diff --git a/src/ontology/components/mondo-tags.owl b/src/ontology/components/mondo-tags.owl index 7ae26963f8..ac4ee810e8 100644 --- a/src/ontology/components/mondo-tags.owl +++ b/src/ontology/components/mondo-tags.owl @@ -7,8 +7,7 @@ xmlns:xsd="http://www.w3.org/2001/XMLSchema#" xmlns:rdfs="http://www.w3.org/2000/01/rdf-schema#" xmlns:mondo="http://purl.obolibrary.org/obo/mondo#" - xmlns:terms="http://purl.org/dc/terms/" - xmlns:oboInOwl="http://www.geneontology.org/formats/oboInOwl#"> + xmlns:terms="http://purl.org/dc/terms/"> @@ -42,12 +41,6 @@ - - - - - - - @@ -17998,6 +17990,14 @@ + + + + + + + + @@ -18170,22 +18170,6 @@ - - - - - - - - - - - - - - - - @@ -19601,14 +19585,6 @@ - - - - - - - - @@ -21309,7 +21285,6 @@ - @@ -22525,14 +22500,6 @@ - - - - - - - - @@ -23004,14 +22971,6 @@ - - - - - - - - @@ -23716,7 +23675,6 @@ - @@ -24772,14 +24730,6 @@ - - - - - - - - @@ -25065,14 +25015,6 @@ - - - - - - - - @@ -25511,7 +25453,6 @@ - @@ -25862,8 +25803,6 @@ - - @@ -26128,14 +26067,6 @@ - - - - - - - - @@ -27478,14 +27409,6 @@ - - - - - - - - @@ -28291,14 +28214,6 @@ - - - - - - - - @@ -28988,14 +28903,6 @@ - - - - - - - - @@ -31565,7 +31472,6 @@ - @@ -43884,14 +43790,6 @@ - - - - - - - - @@ -44361,14 +44259,6 @@ - - - - - - - - @@ -45450,14 +45340,6 @@ - - - - - - - - @@ -45938,7 +45820,6 @@ - @@ -46070,14 +45951,6 @@ - - - - - - - - @@ -46246,7 +46119,6 @@ - @@ -46255,7 +46127,6 @@ - @@ -46264,7 +46135,6 @@ - @@ -46273,7 +46143,6 @@ - @@ -46282,7 +46151,6 @@ - @@ -46519,14 +46387,6 @@ - - - - - - - - @@ -47088,14 +46948,6 @@ - - - - - - - - @@ -47165,13 +47017,6 @@ - - - - - MONDOLEX:0018683 - NCIT:C112831 - @@ -47228,7 +47073,6 @@ - @@ -47313,14 +47157,6 @@ - - - - - - - - @@ -47788,14 +47624,6 @@ - - - - - - - - @@ -47926,14 +47754,6 @@ - - - - - - - - @@ -48505,14 +48325,6 @@ - - - - - - - - @@ -48688,7 +48500,6 @@ - @@ -49078,14 +48889,6 @@ - - - - - - - - @@ -53755,14 +53558,6 @@ - - - - - - - - @@ -53942,14 +53737,6 @@ - - - - - - - - @@ -56787,7 +56574,6 @@ - @@ -57377,14 +57163,6 @@ - - - - - - - - @@ -60016,5 +59794,5 @@ - + diff --git a/src/ontology/imports/chr_terms.txt b/src/ontology/imports/chr_terms.txt index 5a71133fba..04ff8f48d2 100644 --- a/src/ontology/imports/chr_terms.txt +++ b/src/ontology/imports/chr_terms.txt @@ -3,8 +3,10 @@ http://purl.obolibrary.org/obo/CHR_9606-chr1 ## chromosome 1 (Human) http://purl.obolibrary.org/obo/CHR_9606-chr10 http://purl.obolibrary.org/obo/CHR_9606-chr10 ## chromosome 10 (Human) http://purl.obolibrary.org/obo/CHR_9606-chr10p +http://purl.obolibrary.org/obo/CHR_9606-chr10p11.21-p12.31 http://purl.obolibrary.org/obo/CHR_9606-chr10q http://purl.obolibrary.org/obo/CHR_9606-chr10q2 +http://purl.obolibrary.org/obo/CHR_9606-chr10q22.3-q23.3 http://purl.obolibrary.org/obo/CHR_9606-chr10q23 http://purl.obolibrary.org/obo/CHR_9606-chr10q24 http://purl.obolibrary.org/obo/CHR_9606-chr11 @@ -13,9 +15,11 @@ http://purl.obolibrary.org/obo/CHR_9606-chr11p http://purl.obolibrary.org/obo/CHR_9606-chr11p1 http://purl.obolibrary.org/obo/CHR_9606-chr11p13 http://purl.obolibrary.org/obo/CHR_9606-chr11p15 +http://purl.obolibrary.org/obo/CHR_9606-chr11p15-p14 http://purl.obolibrary.org/obo/CHR_9606-chr11p15.4 http://purl.obolibrary.org/obo/CHR_9606-chr11q http://purl.obolibrary.org/obo/CHR_9606-chr11q2 +http://purl.obolibrary.org/obo/CHR_9606-chr11q22.2-q22.3 http://purl.obolibrary.org/obo/CHR_9606-chr11q24 http://purl.obolibrary.org/obo/CHR_9606-chr11q24.1 http://purl.obolibrary.org/obo/CHR_9606-chr12 @@ -27,6 +31,7 @@ http://purl.obolibrary.org/obo/CHR_9606-chr12p12.1 http://purl.obolibrary.org/obo/CHR_9606-chr12q http://purl.obolibrary.org/obo/CHR_9606-chr12q1 http://purl.obolibrary.org/obo/CHR_9606-chr12q14 +http://purl.obolibrary.org/obo/CHR_9606-chr12q15-q21.1 http://purl.obolibrary.org/obo/CHR_9606-chr13 http://purl.obolibrary.org/obo/CHR_9606-chr13 ## chromosome 13 (Human) http://purl.obolibrary.org/obo/CHR_9606-chr13p @@ -42,8 +47,11 @@ http://purl.obolibrary.org/obo/CHR_9606-chr14 ## chromosome 14 (Human) http://purl.obolibrary.org/obo/CHR_9606-chr14q http://purl.obolibrary.org/obo/CHR_9606-chr14q1 http://purl.obolibrary.org/obo/CHR_9606-chr14q11 +http://purl.obolibrary.org/obo/CHR_9606-chr14q11-q22 http://purl.obolibrary.org/obo/CHR_9606-chr14q11.2 http://purl.obolibrary.org/obo/CHR_9606-chr14q12 +http://purl.obolibrary.org/obo/CHR_9606-chr14q22-q23 +http://purl.obolibrary.org/obo/CHR_9606-chr14q24.1-q24.3 http://purl.obolibrary.org/obo/CHR_9606-chr14q3 http://purl.obolibrary.org/obo/CHR_9606-chr14q32 http://purl.obolibrary.org/obo/CHR_9606-chr14q32.2 @@ -52,6 +60,7 @@ http://purl.obolibrary.org/obo/CHR_9606-chr15 ## chromosome 15 (Human) http://purl.obolibrary.org/obo/CHR_9606-chr15q http://purl.obolibrary.org/obo/CHR_9606-chr15q1 http://purl.obolibrary.org/obo/CHR_9606-chr15q11 +http://purl.obolibrary.org/obo/CHR_9606-chr15q11-q13 http://purl.obolibrary.org/obo/CHR_9606-chr15q11.2 http://purl.obolibrary.org/obo/CHR_9606-chr15q13 http://purl.obolibrary.org/obo/CHR_9606-chr15q13.3 @@ -59,14 +68,18 @@ http://purl.obolibrary.org/obo/CHR_9606-chr15q14 http://purl.obolibrary.org/obo/CHR_9606-chr15q2 http://purl.obolibrary.org/obo/CHR_9606-chr15q24 http://purl.obolibrary.org/obo/CHR_9606-chr15q25 +http://purl.obolibrary.org/obo/CHR_9606-chr15q26-qter http://purl.obolibrary.org/obo/CHR_9606-chr16 http://purl.obolibrary.org/obo/CHR_9606-chr16 ## chromosome 16 (Human) http://purl.obolibrary.org/obo/CHR_9606-chr16p http://purl.obolibrary.org/obo/CHR_9606-chr16p1 http://purl.obolibrary.org/obo/CHR_9606-chr16p11 http://purl.obolibrary.org/obo/CHR_9606-chr16p11.2 +http://purl.obolibrary.org/obo/CHR_9606-chr16p11.2-p12.2 http://purl.obolibrary.org/obo/CHR_9606-chr16p12 http://purl.obolibrary.org/obo/CHR_9606-chr16p12.1 +http://purl.obolibrary.org/obo/CHR_9606-chr16p12.1-p12.3 +http://purl.obolibrary.org/obo/CHR_9606-chr16p12.2-p11.2 http://purl.obolibrary.org/obo/CHR_9606-chr16p13 http://purl.obolibrary.org/obo/CHR_9606-chr16p13.1 http://purl.obolibrary.org/obo/CHR_9606-chr16p13.11 @@ -94,6 +107,7 @@ http://purl.obolibrary.org/obo/CHR_9606-chr17q2 http://purl.obolibrary.org/obo/CHR_9606-chr17q21 http://purl.obolibrary.org/obo/CHR_9606-chr17q21.3 http://purl.obolibrary.org/obo/CHR_9606-chr17q21.31 +http://purl.obolibrary.org/obo/CHR_9606-chr17q23.1-q23.2 http://purl.obolibrary.org/obo/CHR_9606-chr18 http://purl.obolibrary.org/obo/CHR_9606-chr18 ## chromosome 18 (Human) http://purl.obolibrary.org/obo/CHR_9606-chr18p @@ -117,14 +131,17 @@ http://purl.obolibrary.org/obo/CHR_9606-chr1p2 http://purl.obolibrary.org/obo/CHR_9606-chr1p21 http://purl.obolibrary.org/obo/CHR_9606-chr1p21.3 http://purl.obolibrary.org/obo/CHR_9606-chr1p3 +http://purl.obolibrary.org/obo/CHR_9606-chr1p32-p31 http://purl.obolibrary.org/obo/CHR_9606-chr1p35 http://purl.obolibrary.org/obo/CHR_9606-chr1p35.2 http://purl.obolibrary.org/obo/CHR_9606-chr1p36 http://purl.obolibrary.org/obo/CHR_9606-chr1q +http://purl.obolibrary.org/obo/CHR_9606-chr1q12-q21 http://purl.obolibrary.org/obo/CHR_9606-chr1q2 http://purl.obolibrary.org/obo/CHR_9606-chr1q21 http://purl.obolibrary.org/obo/CHR_9606-chr1q21.1 http://purl.obolibrary.org/obo/CHR_9606-chr1q4 +http://purl.obolibrary.org/obo/CHR_9606-chr1q41-q42 http://purl.obolibrary.org/obo/CHR_9606-chr1q44 http://purl.obolibrary.org/obo/CHR_9606-chr2 http://purl.obolibrary.org/obo/CHR_9606-chr2 ## chromosome 2 (Human) @@ -140,11 +157,14 @@ http://purl.obolibrary.org/obo/CHR_9606-chr20q1 http://purl.obolibrary.org/obo/CHR_9606-chr20q11 http://purl.obolibrary.org/obo/CHR_9606-chr20q11.2 http://purl.obolibrary.org/obo/CHR_9606-chr20q13 +http://purl.obolibrary.org/obo/CHR_9606-chr20q13.2-q13.3 http://purl.obolibrary.org/obo/CHR_9606-chr20q13.3 http://purl.obolibrary.org/obo/CHR_9606-chr20q13.33 http://purl.obolibrary.org/obo/CHR_9606-chr21 http://purl.obolibrary.org/obo/CHR_9606-chr21 ## chromosome 21 (Human) http://purl.obolibrary.org/obo/CHR_9606-chr21q +http://purl.obolibrary.org/obo/CHR_9606-chr21q22.11-q22.12 +http://purl.obolibrary.org/obo/CHR_9606-chr21q22.13-q22.2 http://purl.obolibrary.org/obo/CHR_9606-chr22 http://purl.obolibrary.org/obo/CHR_9606-chr22 ## chromosome 22 (Human) http://purl.obolibrary.org/obo/CHR_9606-chr22q @@ -154,9 +174,11 @@ http://purl.obolibrary.org/obo/CHR_9606-chr22q11.2 http://purl.obolibrary.org/obo/CHR_9606-chr22q13 http://purl.obolibrary.org/obo/CHR_9606-chr2p http://purl.obolibrary.org/obo/CHR_9606-chr2p1 +http://purl.obolibrary.org/obo/CHR_9606-chr2p12-p11.2 http://purl.obolibrary.org/obo/CHR_9606-chr2p13 http://purl.obolibrary.org/obo/CHR_9606-chr2p13.2 http://purl.obolibrary.org/obo/CHR_9606-chr2p16 +http://purl.obolibrary.org/obo/CHR_9606-chr2p16.1-p15 http://purl.obolibrary.org/obo/CHR_9606-chr2p16.3 http://purl.obolibrary.org/obo/CHR_9606-chr2p2 http://purl.obolibrary.org/obo/CHR_9606-chr2p21 @@ -170,6 +192,7 @@ http://purl.obolibrary.org/obo/CHR_9606-chr2q3 http://purl.obolibrary.org/obo/CHR_9606-chr2q31 http://purl.obolibrary.org/obo/CHR_9606-chr2q31.1 http://purl.obolibrary.org/obo/CHR_9606-chr2q31.2 +http://purl.obolibrary.org/obo/CHR_9606-chr2q32-q33 http://purl.obolibrary.org/obo/CHR_9606-chr2q33 http://purl.obolibrary.org/obo/CHR_9606-chr2q33.1 http://purl.obolibrary.org/obo/CHR_9606-chr2q35 @@ -224,12 +247,16 @@ http://purl.obolibrary.org/obo/CHR_9606-chr6 ## chromosome 6 (Human) http://purl.obolibrary.org/obo/CHR_9606-chr6p http://purl.obolibrary.org/obo/CHR_9606-chr6p2 http://purl.obolibrary.org/obo/CHR_9606-chr6p22 +http://purl.obolibrary.org/obo/CHR_9606-chr6pter-p24 http://purl.obolibrary.org/obo/CHR_9606-chr6q http://purl.obolibrary.org/obo/CHR_9606-chr6q1 +http://purl.obolibrary.org/obo/CHR_9606-chr6q11-q14 http://purl.obolibrary.org/obo/CHR_9606-chr6q16 +http://purl.obolibrary.org/obo/CHR_9606-chr6q24-q25 http://purl.obolibrary.org/obo/CHR_9606-chr7 http://purl.obolibrary.org/obo/CHR_9606-chr7 ## chromosome 7 (Human) http://purl.obolibrary.org/obo/CHR_9606-chr7p +http://purl.obolibrary.org/obo/CHR_9606-chr7p11.2-p13 http://purl.obolibrary.org/obo/CHR_9606-chr7p2 http://purl.obolibrary.org/obo/CHR_9606-chr7p22 http://purl.obolibrary.org/obo/CHR_9606-chr7p22.1 @@ -253,6 +280,7 @@ http://purl.obolibrary.org/obo/CHR_9606-chr8p23.1 http://purl.obolibrary.org/obo/CHR_9606-chr8q http://purl.obolibrary.org/obo/CHR_9606-chr8q1 http://purl.obolibrary.org/obo/CHR_9606-chr8q12 +http://purl.obolibrary.org/obo/CHR_9606-chr8q12.1-q21.2 http://purl.obolibrary.org/obo/CHR_9606-chr8q2 http://purl.obolibrary.org/obo/CHR_9606-chr8q21 http://purl.obolibrary.org/obo/CHR_9606-chr8q21.1 @@ -272,6 +300,8 @@ http://purl.obolibrary.org/obo/CHR_9606-chr9q21 http://purl.obolibrary.org/obo/CHR_9606-chr9q22 http://purl.obolibrary.org/obo/CHR_9606-chr9q22.3 http://purl.obolibrary.org/obo/CHR_9606-chr9q3 +http://purl.obolibrary.org/obo/CHR_9606-chr9q31.1-q31.3 +http://purl.obolibrary.org/obo/CHR_9606-chr9q33.3-q34.11 http://purl.obolibrary.org/obo/CHR_9606-chr9q34 http://purl.obolibrary.org/obo/CHR_9606-chrM http://purl.obolibrary.org/obo/CHR_9606-chrM ## chromosome M (Human) @@ -280,12 +310,15 @@ http://purl.obolibrary.org/obo/CHR_9606-chrX ## chromosome X (Human) http://purl.obolibrary.org/obo/CHR_9606-chrXp http://purl.obolibrary.org/obo/CHR_9606-chrXp1 http://purl.obolibrary.org/obo/CHR_9606-chrXp11 +http://purl.obolibrary.org/obo/CHR_9606-chrXp11.23-p11.22 http://purl.obolibrary.org/obo/CHR_9606-chrXp11.3 http://purl.obolibrary.org/obo/CHR_9606-chrXp2 http://purl.obolibrary.org/obo/CHR_9606-chrXp21 http://purl.obolibrary.org/obo/CHR_9606-chrXp22 +http://purl.obolibrary.org/obo/CHR_9606-chrXp22.13-p22.2 http://purl.obolibrary.org/obo/CHR_9606-chrXp22.3 http://purl.obolibrary.org/obo/CHR_9606-chrXq +http://purl.obolibrary.org/obo/CHR_9606-chrXq12-q13.3 http://purl.obolibrary.org/obo/CHR_9606-chrXq2 http://purl.obolibrary.org/obo/CHR_9606-chrXq22 http://purl.obolibrary.org/obo/CHR_9606-chrXq22.3 @@ -293,41 +326,7 @@ http://purl.obolibrary.org/obo/CHR_9606-chrXq25 http://purl.obolibrary.org/obo/CHR_9606-chrXq26 http://purl.obolibrary.org/obo/CHR_9606-chrXq27 http://purl.obolibrary.org/obo/CHR_9606-chrXq27.2 +http://purl.obolibrary.org/obo/CHR_9606-chrXq27.3-q28 http://purl.obolibrary.org/obo/CHR_9606-chrXq28 http://purl.obolibrary.org/obo/CHR_9606-chrY http://purl.obolibrary.org/obo/CHR_9606-chrY ## chromosome Y (Human) -http://purl.obolibrary.org/obo/CHR_9606-chr10p11.21-p12.31 -http://purl.obolibrary.org/obo/CHR_9606-chr10q22.3-q23.3 -http://purl.obolibrary.org/obo/CHR_9606-chr11p15-p14 -http://purl.obolibrary.org/obo/CHR_9606-chr11q22.2-q22.3 -http://purl.obolibrary.org/obo/CHR_9606-chr12q15-q21.1 -http://purl.obolibrary.org/obo/CHR_9606-chr14q11-q22 -http://purl.obolibrary.org/obo/CHR_9606-chr14q22-q23 -http://purl.obolibrary.org/obo/CHR_9606-chr14q24.1-q24.3 -http://purl.obolibrary.org/obo/CHR_9606-chr15q11-q13 -http://purl.obolibrary.org/obo/CHR_9606-chr15q26-qter -http://purl.obolibrary.org/obo/CHR_9606-chr16p11.2-p12.2 -http://purl.obolibrary.org/obo/CHR_9606-chr16p12.1-p12.3 -http://purl.obolibrary.org/obo/CHR_9606-chr16p12.2-p11.2 -http://purl.obolibrary.org/obo/CHR_9606-chr17q23.1-q23.2 -http://purl.obolibrary.org/obo/CHR_9606-chr17q23.1-q23.2 -http://purl.obolibrary.org/obo/CHR_9606-chr1p32-p31 -http://purl.obolibrary.org/obo/CHR_9606-chr1q12-q21 -http://purl.obolibrary.org/obo/CHR_9606-chr1q41-q42 -http://purl.obolibrary.org/obo/CHR_9606-chr20q13.2-q13.3 -http://purl.obolibrary.org/obo/CHR_9606-chr21q22.11-q22.12 -http://purl.obolibrary.org/obo/CHR_9606-chr21q22.13-q22.2 -http://purl.obolibrary.org/obo/CHR_9606-chr2p12-p11.2 -http://purl.obolibrary.org/obo/CHR_9606-chr2p16.1-p15 -http://purl.obolibrary.org/obo/CHR_9606-chr2q32-q33 -http://purl.obolibrary.org/obo/CHR_9606-chr6pter-p24 -http://purl.obolibrary.org/obo/CHR_9606-chr6q11-q14 -http://purl.obolibrary.org/obo/CHR_9606-chr6q24-q25 -http://purl.obolibrary.org/obo/CHR_9606-chr7p11.2-p13 -http://purl.obolibrary.org/obo/CHR_9606-chr8q12.1-q21.2 -http://purl.obolibrary.org/obo/CHR_9606-chr9q31.1-q31.3 -http://purl.obolibrary.org/obo/CHR_9606-chr9q33.3-q34.11 -http://purl.obolibrary.org/obo/CHR_9606-chrXp11.23-p11.22 -http://purl.obolibrary.org/obo/CHR_9606-chrXp22.13-p22.2 -http://purl.obolibrary.org/obo/CHR_9606-chrXq12-q13.3 -http://purl.obolibrary.org/obo/CHR_9606-chrXq27.3-q28 \ No newline at end of file diff --git a/src/ontology/imports/go_terms.txt b/src/ontology/imports/go_terms.txt index 3a5026e4ff..d1dc07bd89 100644 --- a/src/ontology/imports/go_terms.txt +++ b/src/ontology/imports/go_terms.txt @@ -25,6 +25,9 @@ http://purl.obolibrary.org/obo/GO_0000789 http://purl.obolibrary.org/obo/GO_0000790 http://purl.obolibrary.org/obo/GO_0000791 http://purl.obolibrary.org/obo/GO_0000792 +http://purl.obolibrary.org/obo/GO_0000803 +http://purl.obolibrary.org/obo/GO_0000805 +http://purl.obolibrary.org/obo/GO_0000806 http://purl.obolibrary.org/obo/GO_0000819 http://purl.obolibrary.org/obo/GO_0000820 http://purl.obolibrary.org/obo/GO_0000902 diff --git a/src/ontology/imports/ro_terms.txt b/src/ontology/imports/ro_terms.txt index c1a221d1b3..f4109af692 100644 --- a/src/ontology/imports/ro_terms.txt +++ b/src/ontology/imports/ro_terms.txt @@ -1888,6 +1888,7 @@ http://purl.obolibrary.org/obo/UBERON_0004087 http://purl.obolibrary.org/obo/UBERON_0004088 http://purl.obolibrary.org/obo/UBERON_0004089 http://purl.obolibrary.org/obo/UBERON_0004099 +http://purl.obolibrary.org/obo/UBERON_0004100 http://purl.obolibrary.org/obo/UBERON_0004103 http://purl.obolibrary.org/obo/UBERON_0004105 http://purl.obolibrary.org/obo/UBERON_0004108 @@ -4891,6 +4892,9 @@ http://purl.obolibrary.org/obo/UBERON_0037458 http://purl.obolibrary.org/obo/UBERON_0037459 http://purl.obolibrary.org/obo/UBERON_0037531 http://purl.obolibrary.org/obo/UBERON_0039168 +http://purl.obolibrary.org/obo/UBERON_0039222 +http://purl.obolibrary.org/obo/UBERON_0039228 +http://purl.obolibrary.org/obo/UBERON_0039261 http://purl.obolibrary.org/obo/UBERON_1000004 http://purl.obolibrary.org/obo/UBERON_1000011 http://purl.obolibrary.org/obo/UBERON_1000021 @@ -4951,6 +4955,8 @@ http://purl.obolibrary.org/obo/UBERON_5103631 http://purl.obolibrary.org/obo/UBERON_5103635 http://purl.obolibrary.org/obo/UBERON_5106048 http://purl.obolibrary.org/obo/UBERON_5106052 +http://purl.obolibrary.org/obo/UBERON_7500062 +http://purl.obolibrary.org/obo/UBERON_7500094 http://purl.obolibrary.org/obo/UBERON_8000006 http://purl.obolibrary.org/obo/UBERON_8000007 http://purl.obolibrary.org/obo/UBERON_8300000 @@ -4993,6 +4999,8 @@ http://purl.obolibrary.org/obo/UBERON_8410050 http://purl.obolibrary.org/obo/UBERON_8410051 http://purl.obolibrary.org/obo/UBERON_8410056 http://purl.obolibrary.org/obo/UBERON_8410057 +http://purl.obolibrary.org/obo/UBERON_8420000 +http://purl.obolibrary.org/obo/UBERON_8440004 http://purl.obolibrary.org/obo/chebi#is_substituent_group_from http://purl.obolibrary.org/obo/mondo#part_of_progression_of_disease http://purl.obolibrary.org/obo/pato#has_cross_section diff --git a/src/ontology/reports/mondo-edit-report.html b/src/ontology/reports/mondo-edit-report.html index 8fa976b9e9..20321e4be5 100644 --- a/src/ontology/reports/mondo-edit-report.html +++ b/src/ontology/reports/mondo-edit-report.html @@ -101,28 +101,28 @@ multiple_equivalent_classes MONDO:0021108 owl:equivalentClass - ca34b28c-5e0c-4d6c-b1a8-0bf0de7a98c2genid309184 + 67a448f0-15c8-41ce-b57c-d687c2bf3486genid309541 WARN multiple_equivalent_classes MONDO:0021108 owl:equivalentClass - ca34b28c-5e0c-4d6c-b1a8-0bf0de7a98c2genid309188 + 67a448f0-15c8-41ce-b57c-d687c2bf3486genid309545 WARN multiple_equivalent_classes MONDO:0045024 owl:equivalentClass - ca34b28c-5e0c-4d6c-b1a8-0bf0de7a98c2genid337982 + 67a448f0-15c8-41ce-b57c-d687c2bf3486genid338540 WARN multiple_equivalent_classes MONDO:0045024 owl:equivalentClass - ca34b28c-5e0c-4d6c-b1a8-0bf0de7a98c2genid337986 + 67a448f0-15c8-41ce-b57c-d687c2bf3486genid338544 WARN @@ -152,20 +152,6 @@ oboInOwl:hasExactSynonym XLOA - - WARN - duplicate_exact_synonym - MONDO:0007526 - oboInOwl:hasExactSynonym - XGPT deficiency - - - WARN - duplicate_exact_synonym - MONDO:0020682 - oboInOwl:hasExactSynonym - XGPT deficiency - WARN duplicate_exact_synonym @@ -208,34 +194,6 @@ oboInOwl:hasExactSynonym Wissler-Fanconi syndrome - - WARN - duplicate_exact_synonym - MONDO:0010201 - oboInOwl:hasExactSynonym - Winchester syndrome - - - WARN - duplicate_exact_synonym - MONDO:0018104 - oboInOwl:hasExactSynonym - Winchester syndrome - - - WARN - duplicate_exact_synonym - MONDO:0006058 - oboInOwl:hasExactSynonym - Wilms tumor - - - WARN - duplicate_exact_synonym - MONDO:0019004 - oboInOwl:hasExactSynonym - Wilms tumor - WARN duplicate_exact_synonym @@ -306,6 +264,20 @@ oboInOwl:hasExactSynonym von Reklinghausen disease + + WARN + duplicate_exact_synonym + MONDO:0003584 + oboInOwl:hasExactSynonym + visual cortex disorder + + + WARN + duplicate_exact_synonym + MONDO:0018649 + oboInOwl:hasExactSynonym + visual cortex disorder + WARN duplicate_exact_synonym @@ -1097,6 +1069,20 @@ oboInOwl:hasExactSynonym spinal dysraphism + + WARN + duplicate_exact_synonym + MONDO:0012013 + oboInOwl:hasExactSynonym + spherophakia-brachymorphia syndrome + + + WARN + duplicate_exact_synonym + MONDO:0018096 + oboInOwl:hasExactSynonym + spherophakia-brachymorphia syndrome + WARN duplicate_exact_synonym @@ -1881,6 +1867,20 @@ oboInOwl:hasExactSynonym primary congenital glaucoma + + WARN + duplicate_exact_synonym + MONDO:0001119 + oboInOwl:hasExactSynonym + premature ovarian failure + + + WARN + duplicate_exact_synonym + MONDO:0005387 + oboInOwl:hasExactSynonym + premature ovarian failure + WARN duplicate_exact_synonym @@ -3603,6 +3603,20 @@ oboInOwl:hasExactSynonym mesonephroma + + WARN + duplicate_exact_synonym + MONDO:0012013 + oboInOwl:hasExactSynonym + mesodermal Dysmorphodystrophy, congenital + + + WARN + duplicate_exact_synonym + MONDO:0018096 + oboInOwl:hasExactSynonym + mesodermal Dysmorphodystrophy, congenital + WARN duplicate_exact_synonym @@ -3736,20 +3750,6 @@ oboInOwl:hasExactSynonym MCD - - WARN - duplicate_exact_synonym - MONDO:0007378 - oboInOwl:hasExactSynonym - Maumenee corneal dystrophy - - - WARN - duplicate_exact_synonym - MONDO:0009019 - oboInOwl:hasExactSynonym - Maumenee corneal dystrophy - WARN duplicate_exact_synonym @@ -4275,6 +4275,20 @@ oboInOwl:hasExactSynonym LPP + + WARN + duplicate_exact_synonym + MONDO:0022794 + oboInOwl:hasExactSynonym + loss of chromosome 8 + + + WARN + duplicate_exact_synonym + MONDO:0700035 + oboInOwl:hasExactSynonym + loss of chromosome 8 + WARN duplicate_exact_synonym @@ -5136,20 +5150,6 @@ oboInOwl:hasExactSynonym hypernephroma - - WARN - duplicate_exact_synonym - MONDO:0005803 - oboInOwl:hasExactSynonym - hyperinsulinemic hypoglycemia - - - WARN - duplicate_exact_synonym - MONDO:0017182 - oboInOwl:hasExactSynonym - hyperinsulinemic hypoglycemia - WARN duplicate_exact_synonym @@ -5206,6 +5206,20 @@ oboInOwl:hasExactSynonym Hurler syndrome + + WARN + duplicate_exact_synonym + MONDO:8000010 + oboInOwl:hasExactSynonym + Hughes syndrome + + + WARN + duplicate_exact_synonym + MONDO:8000014 + oboInOwl:hasExactSynonym + Hughes syndrome + WARN duplicate_exact_synonym @@ -5318,6 +5332,20 @@ oboInOwl:hasExactSynonym hereditary ovarian cancer + + WARN + duplicate_exact_synonym + MONDO:0008165 + oboInOwl:hasExactSynonym + hereditary ovalocytosis + + + WARN + duplicate_exact_synonym + MONDO:0017319 + oboInOwl:hasExactSynonym + hereditary ovalocytosis + WARN duplicate_exact_synonym @@ -5647,6 +5675,20 @@ oboInOwl:hasExactSynonym gamma-sarcoglycanopathy + + WARN + duplicate_exact_synonym + MONDO:0005775 + oboInOwl:hasExactSynonym + G6PD deficiency + + + WARN + duplicate_exact_synonym + MONDO:0040671 + oboInOwl:hasExactSynonym + G6PD deficiency + WARN duplicate_exact_synonym @@ -7558,6 +7600,20 @@ oboInOwl:hasExactSynonym chronic inflammatory demyelinating polyneuropathy + + WARN + duplicate_exact_synonym + MONDO:0022794 + oboInOwl:hasExactSynonym + chromosome 8 deletion + + + WARN + duplicate_exact_synonym + MONDO:0700035 + oboInOwl:hasExactSynonym + chromosome 8 deletion + WARN duplicate_exact_synonym @@ -7796,20 +7852,6 @@ oboInOwl:hasExactSynonym Central nervous system Mixed germ cell tumor - - WARN - duplicate_exact_synonym - MONDO:0020603 - oboInOwl:hasExactSynonym - CDPXD - - - WARN - duplicate_exact_synonym - MONDO:0026782 - oboInOwl:hasExactSynonym - CDPXD - WARN duplicate_exact_synonym @@ -8363,6 +8405,20 @@ oboInOwl:hasExactSynonym autosomal recessive axonal Charcot-Marie-Tooth disease type 2T + + WARN + duplicate_exact_synonym + MONDO:0015129 + oboInOwl:hasExactSynonym + autoimmune adrenalitis + + + WARN + duplicate_exact_synonym + MONDO:0100480 + oboInOwl:hasExactSynonym + autoimmune adrenalitis + WARN duplicate_exact_synonym @@ -8580,20 +8636,6 @@ oboInOwl:hasExactSynonym AMC - - WARN - duplicate_exact_synonym - MONDO:0007089 - oboInOwl:hasExactSynonym - Alzheimer disease type 2 - - - WARN - duplicate_exact_synonym - MONDO:0100088 - oboInOwl:hasExactSynonym - Alzheimer disease type 2 - WARN duplicate_exact_synonym @@ -8664,6 +8706,20 @@ oboInOwl:hasExactSynonym AIP + + WARN + duplicate_exact_synonym + MONDO:0007691 + oboInOwl:hasExactSynonym + AIDP + + + WARN + duplicate_exact_synonym + MONDO:0020347 + oboInOwl:hasExactSynonym + AIDP + WARN duplicate_exact_synonym diff --git a/src/ontology/reports/mondo_base_current_release-report.tsv b/src/ontology/reports/mondo_base_current_release-report.tsv new file mode 100644 index 0000000000..2c1955b594 --- /dev/null +++ b/src/ontology/reports/mondo_base_current_release-report.tsv @@ -0,0 +1,24928 @@ +?mondo_term ?label ?definition ?obsoletion_candidate ?obsolete + "disease or disorder" "A disease is a disposition to undergo pathological processes that exists in an organism because of one or more disorders in that organism." "" + "disease characteristic" "An attribute of a disease." "" + "disease susceptibility" "A constitution or condition of the body which makes the tissues react in special ways to certain extrinsic stimuli and thus tends to make the individual more than usually susceptible to certain diseases." "" + "obsolete 46,XX sex reversal" "" "true" + "obsolete 17-hydroxysteroid dehydrogenase deficiency" "" "true" + "adrenocortical insufficiency" "An endocrine or hormonal disorder that occurs when the adrenal cortex does not produce enough of the hormone cortisol and in some cases, the hormone aldosterone. It may be due to a disorder of the adrenal cortex (Addison's disease or primary adrenal insufficiency) or to inadequate secretion of ACTH by the pituitary gland (secondary adrenal insufficiency)." "" + "adrenal cortex disorder" "A disease involving the adrenal cortex." "" + "alopecia, isolated" "" + "genetic alopecia" "An instance of alopecia that is caused by a modification of the individual's genome." "" + "obsolete alopecia-mental retardation syndrome" "" "true" + "obsolete atypical Mycobacteriosis, familial" "" "true" + "obsolete bare lymphocyte syndrome" "" "true" + "inherited bleeding disorder, platelet-type" "" + "hemorrhagic disease" "Spontaneous or near spontaneous bleeding caused by a defect in clotting mechanisms (blood coagulation disorders) or another abnormality causing a structural flaw in the blood vessels (hemostatic disorders)." "" + "inherited" "A characteristic of a disease in which the cause of the disease is a genetic problem inherited from either or both parents." "" + "blood platelet disease" "Disorders caused by abnormalities in platelet count or function." "" + "Mendelian disease" "A disease that is caused by genetic modifications where those modifications are inherited from a parent's genome." "" + "obsolete cerebrooculofacioskeletal syndrome" "" "true" + "obsolete chondrodysplasia" "" "true" + "obsolete choreoathetosis" "" "true" + "obsolete choroidal dystrophy" "" "true" + "colorblindness, partial" "" + "color vision disorder" "The absence of or defect in the perception of colors." "" + "classic complement early component deficiency" "A genetic deficiency of any early component of the classical pathway (C1q, C1r/s, C2, C4, and C3) that is associated with autoimmune diseases due to the failure of clearance of immune complexes (IC) and apoptotic materials, and the impairment of normal humoral response." "" + "complement deficiency" "A genetic deficiency of any of the component of the complement system (including the classical, alternative, and terminal pathway components), that can either be acquired or inherited." "" + "obsolete coronary heart disease" "" "true" + "obsolete deafness, autosomal recessive" "" "true" + "obsolete myotonic dystrophy" "" "true" + "obsolete ectodermal dysplasia" "" "true" + "obsolete elliptocytosis" "" "true" + "obsolete short-rib thoracic dysplasia" "" "true" + "nocturnal enuresis" "Urination during sleep." "" + "enuresis" "An elimination disorder characterized by urinary incontinence, whether involuntary or intentional, which is not due to a medical condition and which occurs at or beyond an age at which continence is expected (usually 5 years)." "" + "infantile liver failure" "" + "genetic parenchymatous liver disease" "" + "obsolete exostoses, multiple" "" "true" + "obsolete familial cold autoinflammatory syndrome" "" "true" + "obsolete Fanconi renotubular syndrome" "" "true" + "obsolete epilepsy, absence" "" "true" + "obsolete epilepsy, hot water" "" "true" + "obsolete corticosterone methyloxidase deficiency" "" "true" + "sleep-related hypermotor epilepsy" "" + "frontal lobe epilepsy" "A localization-related (focal) form of epilepsy characterized by seizures which arise in the frontal lobe. A variety of clinical syndromes exist depending on the exact location of the seizure focus. Frontal lobe seizures may be idiopathic (cryptogenic) or caused by an identifiable disease process such as traumatic injuries, neoplasms, or other macroscopic or microscopic lesions of the frontal lobes (symptomatic frontal lobe seizures). (From Adams et al., Principles of Neurology, 6th ed, pp318-9)" "" + "familial partial epilepsy" "An instance of partial epilepsy that is caused by an inherited modification of the individual's genome." "" + "obsolete fatty liver disease, nonalcoholic" "" "true" + "febrile seizures, familial" "" + "obsolete frontonasal dysplasia" "" "true" + "obsolete glomerulopathy with fibronectin deposits" "" "true" + "obsolete glucocorticoid deficiency" "" "true" + "obsolete hemolytic anemia, nonspherocytic" "" "true" + "obsolete herpes simplex encephalitis, susceptibility" "" "true" + "obsolete hyper-IgE recurrent infection syndrome" "" "true" + "obsolete hypercalciuria, absorptive" "" "true" + "obsolete hyperphenylalaninemia, BH4-deficient" "" "true" + "obsolete hyperphosphatasia with mental retardation syndrome" "" "true" + "obsolete hyperprolinemia" "" "true" + "obsolete hypomagnesemia" "" "true" + "hereditary hypophosphatemic rickets" "Hypophosphatemic rickets is a group of genetic diseases characterized by hypophosphatemia, rickets, and normal serum levels of calcium." "" + "hypophosphatemic rickets" "Rickets due to low serum phosphate concentrations, the cause of which can be nutritional or genetic. This condition is characterized by normal parathyroid hormone concentrations, usually caused by renal phosphate wasting occurring in isolation or as part of a renal tubular disorder, and characterized by resistance to treatment with ultraviolet radiation or vitamin D." "" + "hypothyroidism, congenital, nongoitrous" "" + "congenital hypothyroidism" "A thyroid hormone deficiency present from birth." "" + "obsolete hypouricemia, renal" "" "true" + "obsolete immunodeficiency with hyper-IgM" "" "true" + "obsolete immunoglobulin A deficiency" "" "true" + "obsolete invasive pneumococcal disease, recurrent isolated" "" "true" + "isolated congenital growth hormone deficiency" "" + "combined pituitary hormone deficiencies, genetic form" "Congenital hypopituitarism is characterized by multiple pituitary hormone deficiency, including somatotroph, thyrotroph, lactotroph, corticotroph or gonadotroph deficiencies, due to mutations of pituitary transcription factors involved in pituitary ontogenesis. Congenital hypopituitarism is rare compared with the high incidence of hypopituitarism induced by pituitary adenomas, transsphenoidal surgery or radiotherapy." "" + "obsolete keratoderma, palmoplantar striate" "" "true" + "obsolete leukodystrophy, hypomyelinating" "" "true" + "obsolete macroglobulinemia, Waldenstrom" "" "true" + "obsolete macular dystrophy" "" "true" + "obsolete major affective disorder" "" "true" + "obsolete mandibuloacral dysplasia with lipodystrophy" "" "true" + "obsolete medullary cystic kidney disease" "" "true" + "obsolete melanoma, cutaneous malignant" "" "true" + "obsolete methylmalonic aciduria and homocystinuria" "" "true" + "microcephalic osteodysplastic primordial dwarfism" "" + "microcephaly" "A congenital or acquired developmental disorder in which the circumference of the head is smaller than normal for the person's age and sex." "" + "obsolete microcephaly, primary, autosomal recessive" "" "true" + "isolated microphthalmia" "A microphthalmia that is not part of a larger syndrome." "" + "microphthalmia" "Congenital or developmental anomaly in which the eyeballs are abnormally small." "" + "has an isolated presentation" "An characteristic of a disease in which the disease is manifested as an isolated feature." "" + "obsolete molybdenum cofactor deficiency" "" "true" + "obsolete syndromic microphthalmia" "" "true" + "microvascular complications of diabetes, susceptibility" "" + "inherited disease susceptibility" "A latent susceptibility to disease at the genetic level, which may be activated under certain conditions." "" + "diabetic retinopathy" "A chronic, pathological complication associated with diabetes mellitus, where retinal damages are incurred due to microaneurysms in the vasculature of the retina, progressively leading to abnormal blood vessel growth, and swelling and leaking of fluid from blood vessels, resulting in vision loss or blindness." "" + "mitochondrial complex deficiency" "" + "inborn mitochondrial metabolism disorder" "Diseases caused by abnormal function of the mitochondria. They may be caused by mutations, acquired or inherited, in mitochondrial dna or in nuclear genes that code for mitochondrial components. They may also be the result of acquired mitochondria dysfunction due to adverse effects of drugs, infections, or other environmental causes." "" + "obsolete mitochondrial DNA depletion syndrome" "" "true" + "obsolete mucolipidosis" "" "true" + "obsolete multiple endocrine neoplasia" "" "true" + "mycobacterium tuberculosis, susceptibility" "" + "tuberculosis" "A chronic, recurrent infection caused by the bacterium Mycobacterium tuberculosis. Tuberculosis (TB) may affect almost any tissue or organ of the body with the lungs being the most common site of infection. The clinical stages of TB are primary or initial infection, latent or dormant infection, and recrudescent or adult-type TB. Ninety to 95% of primary TB infections may go unrecognized. Histopathologically, tissue lesions consist of granulomas which usually undergo central caseation necrosis. Local symptoms of TB vary according to the part affected; acute symptoms include hectic fever, sweats, and emaciation; serious complications include granulomatous erosion of pulmonary bronchi associated with hemoptysis. If untreated, progressive TB may be associated with a high degree of mortality. This infection is frequently observed in immunocompromised individuals with AIDS or a history of illicit IV drug use." "" + "hereditary predisposition to infections" "" + "obsolete myopathy, myofibrillar" "" "true" + "obsolete myopathy, reducing body, X-linked" "" "true" + "obsolete nail disorder, nonsyndromic congenital" "" "true" + "obsolete neurodegeneration with brain iron accumulation" "" "true" + "neuronopathy, distal hereditary motor" "" + "motor neuron disorder" "A disease involving the motor neuron." "" + "obsolete neuropathy, hereditary sensory and autonomic" "" "true" + "obsolete nystagmus" "" "true" + "acrocephalopolysyndactyly" "A common presentation of craniosynostosis and polysyndactyly." "" + "acrocephalosyndactyly" "Acrocephalosyndactyly (ACS) syndromes represent a group of inherited congenital malformation disorders characterized by craniosynostosis and fusion or webbing of the fingers or toes, often with other associated manifestations." "" + "nephrolithiasis/osteoporosis, hypophosphatemic" "" + "osteoporosis" "A condition of reduced bone mass, with decreased cortical thickness and a decrease in the number and size of the trabeculae of cancellous bone (but normal chemical composition), resulting in increased fracture incidence. Osteoporosis is classified as primary (Type 1, postmenopausal osteoporosis; Type 2, age-associated osteoporosis; and idiopathic, which can affect juveniles, premenopausal women, and middle-aged men) and secondary osteoporosis (which results from an identifiable cause of bone mass loss)." "" + "obsolete Oto-palato-digital syndrome" "" "true" + "obsolete ovarian dysgenesis" "" "true" + "pelvic organ prolapse" "Abnormal descent of a pelvic organ resulting in the protrusion of the organ beyond its normal anatomical confines. Symptoms often include vaginal discomfort, dyspareunia; urinary stress incontinence; and fecal incontinence." "" + "reproductive system disorder" "A disease involving the reproductive system." "" + "obsolete Griscelli syndrome" "" "true" + "obsolete pigmented nodular adrenocortical disease" "" "true" + "obsolete pituitary hormone deficiency, combined" "" "true" + "obsolete polydactyly, preaxial" "" "true" + "polymicrogyria" "A developmental brain abnormality characterized by an excessive amount of small convolutions on the surface of the brain and cognitive dysfunction." "" + "syndromic intellectual disability" "A intellectual disability that is part of a larger syndrome." "" + "congenital nervous system disorder" "An abnormality of the nervous system that is present at birth or detected in the neonatal period." "" + "rare" "A disease or disorder is defined as rare in Europe when it affects fewer than 1 in 2000. A disease or disorder is defined as rare in the USA when it affects fewer than 200,000 persons at any given time. Here we take the European definition to be consistent with Orphanet." "" + "precocious puberty" "Unusually early sexual maturity." "" + "gonadal disorder" "A non-neoplastic or neoplastic disorder that affects the testis or the ovary." "" + "disorder of development or morphogenesis" "Any disease or disorder that disrupts the process development of an anatomical structure. Can be due to genetic or environmental causes. Typically happens during embryogenesis, but also includes post-embryonic development." "" + "obsolete rare endocrine growth disease" "True" "true" + "obsolete age-related hearing impairment" "" "true" + "progressive external ophthalmoplegia with mitochondrial DNA deletions" "" + "progressive external ophthalmoplegia" "A mitochondrial myopathy characterized by slowly progressive paralysis of the levator palpebrae, orbicularis oculi, and extraocular muscles. Ragged-red fibers and atrophy are found on muscle biopsy. Familial and sporadic forms may occur. Disease onset is usually in the first or second decade of life, and the illness slowly progresses until usually all ocular motility is lost. (From Adams et al., Principles of Neurology, 6th ed, p1422)" "" + "obsolete progressive familial heart block" "" "true" + "obsolete pyloric stenosis, infantile" "" "true" + "Schistosoma mansoni infection, susceptibility" "" + "Schistosoma mansoni infectious disease" "An infection that is caused by Schistosoma mansoni." "" + "obsolete spherocytosis" "" "true" + "obsolete split-hand/foot malformation" "" "true" + "obsolete pulmonary surfactant metabolism dysfunction" "" "true" + "obsolete thyroid dyshormonogenesis" "" "true" + "obsolete thyrotoxic periodic paralysis" "" "true" + "obsolete trichoepithelioma, multiple familial" "" "true" + "obsolete trichorhinophalangeal syndrome" "" "true" + "obsolete tumoral calcinosis" "" "true" + "obsolete vertigo" "" "true" + "obsolete Wilms tumor" "" "true" + "anemia, hypochromic microcytic with iron overload" "" + "hypochromic microcytic anemia" "Anemia in which the circulating RBCs are smaller than the usual size of RBCs (microcytic) and have decreased red color (hypochromic)." "" + "anemia, nonspherocytic hemolytic" "" + "congenital nonspherocytic hemolytic anemia" "Any one of a group of congenital hemolytic anemias in which there is no abnormal hemoglobin or spherocytosis and in which there is a defect of glycolysis in the erythrocyte. Common causes include deficiencies in glucose-6-phosphate isomerase; pyruvate kinase; and glucose-6-phosphate dehydrogenase." "" + "obsolete apnea" "" "true" + "auriculocondylar syndrome" "Auriculo-condylar syndrome (ACS) presents with bilateral external ear malformations ('question mark' ears), mandibular condyle hypoplasia, microstomia, micrognathia, microglossia and facial asymmetry. Additional manifestations include hypotonia, ptosis, cleft palate, puffy cheeks, developmental delay, impaired hearing and respiratory distress." "" + "ear malformation" "" + "oculo-auriculo-vertebral spectrum" "" + "bacteremia, susceptibility" "" + "bacterial infectious disease with sepsis" "An infectious disease caused by bacteria causing sepsis." "" + "obsolete basal ganglia calcification, idiopathic" "" "true" + "bifid nose" "Bifid nose is a rare congenital malformation of presumed autosomal dominant or recessive inheritance characterized by clefting of the nose ranging from a minimally noticeable groove in the columella to complete clefting of the underlying bones and cartilage (resulting in two half noses) with a usually adequate airway. Bifid nose may be seen in frontonasal dysplasia while other malformations such as hypertelorbitism and midline clefts of the lip may also be associated." "" + "median facial cleft" "" + "nose and cavum anomaly" "" + "genetic otorhinolaryngological malformation" "" + "camptodactyly syndrome, Guadalajara" "" + "obsolete cardioencephalomyopathy, fatal infantile" "" "true" + "obsolete cerebellar ataxia, mental retardation, and dysequilibrium syndrome" "" "true" + "cerebelloparenchymal disorder" "" + "Chiari malformation" "A rare genetic brain malformation characterized by displacement of the brain stem and cerebellum through the foramen magnum. It may result in hydrocephalus." "" + "obsolete cortical dysplasia, complex, with other brain malformations" "" "true" + "obsolete diarrhea, congenital" "" "true" + "reticulate pigment disorder" "" + "pigmentation disease" "" + "congenital heart defects, multiple types" "" + "congenital heart disease" "A heart disease that is present at birth. Representative examples include atrial septal defect, ventricular septal defect, tetralogy of Fallot, and patent foramen ovale." "" + "obsolete ectopia lentis, isolated" "" "true" + "obsolete emphysema" "" "true" + "obsolete facial paresis, hereditary congenital" "" "true" + "obsolete factor V and Factor VIII, combined deficiency of" "" "true" + "obsolete focal facial dermal dysplasia" "" "true" + "obsolete fundus dystrophy, pseudoinflammatory" "" "true" + "obsolete gastric cancer" "" "true" + "geleophysic dysplasia" "Geleophysic dysplasia is a rare skeletal dysplasia characterized by short stature, prominent abnormalities in hands and feet, and a characteristic facial appearance (described as \"happy'')." "" + "acromelic dysplasia" "" + "giant axonal neuropathy" "A rare inherited disorder affecting the neurofilaments. It is caused by mutations in the GAN gene. It is characterized by the presence of abnormally large nerve cell axons. Signs and symptoms include difficulty walking, sensory disturbances, lack of motor coordination and abnormal reflexes in the limbs." "" + "axonal neuropathy" "Any nerve disorder affecting the axon of a nerve." "" + "genetic peripheral neuropathy" "Genetic peripheral neuropathy." "" + "glutaric aciduria" "" + "metabolic disease" "A congenital disorder (due to inherited enzyme abnormality) or acquired (due to failure of a metabolically important organ) disorder resulting from an abnormal metabolic process." "" + "obsolete hypercarotenemia and vitamin a deficiency" "" "true" + "obsolete hyperpigmentation, familial progressive" "" "true" + "obsolete hypocalcemia" "" "true" + "immunodeficiency-centromeric instability-facial anomalies syndrome" "The Immunodeficiency, Centromeric region instability, Facial anomalies syndrome (ICF) is a rare autosomal recessive disease characterized by immunodeficiency, although B cells are present, and by characteristic rearrangements in the vicinity of the centromeres (the juxtacentromeric heterochromatin) of chromosomes 1 and 16 and sometimes 9." "" + "autosomal recessive disease" "Autosomal recessive form of disease." "" + "telomere syndrome" "Accelerated aging syndromes often caused by inheritable gene mutations resulting in decreased telomere lengths." "" + "obsolete inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia" "" "true" + "obsolete Kenny-Caffey syndrome" "" "true" + "keratosis follicularis spinulosa decalvans" "Keratosis follicularis spinulosa decalvans is a rare genodermatosis occurring during infancy or childhood, predominantly affecting males, and characterized by diffuse follicular hyperkeratosis associated with progressive cicatricial alopecia of the scalp, eyebrows and eyelashes. Additional findings can include photophobia, corneal dystrophy, facial erythema, and/or palmoplantar keratoderma." "" + "folliculitis" "Inflammation of the hair follicles. Causes include excessive perspiration, skin infections, and skin wounds." "" + "keratosis" "A skin disorder consisting of hypertrophy of the stratum corneum of the skin." "" + "keratosis pilaris atrophicans" "An uncommon form of keratosis pilaris in which there are scar-like follicular depressions and loss of hair." "" + "secondary ectropion" "" + "leukoencephalopathy, megalencephalic" "" + "brain disorder" "A disease affecting the brain or part of the brain." "" + "genetic nervous system disorder" "An instance of nervous system disease that is caused by a modification of the individual's genome." "" + "metaphyseal chondrodysplasia" "" + "Pyle disease" "Pyle disease is a bone dysplasia characterised by genu valgum, metaphyseal anomalies with broadening of the long bones extending into the diaphyses and giving the femora and tibiae an 'Erlenmeyer flask'' appearance, widening of the ribs and clavicles, platyspondyly and cortical thinning." "" + "obsolete microcephalic primordial dwarfism" "" "true" + "" "true" + "familial congenital mirror movements" "Congenital mirror movement disorder is a condition in which intentional movements of one side of the body are mirrored by involuntary movements of the other side. For example, when an affected individual makes a fist with the right hand, the left hand makes a similar movement. The mirror movements in this disorder primarily involve the upper limbs, especially the hands and fingers. This pattern of movements is present from infancy or early childhood and usually persists throughout life, without other associated signs and symptoms. Intelligence and lifespan are not affected." "" + "mosaic variegated aneuploidy syndrome" "Mosaic variegated aneuploidy (MVA) syndrome is a chromosomal anomaly characterized by multiple mosaic aneuploidies that leads to a variety of phenotypic abnormalities and cancer predisposition." "" + "hereditary neoplastic syndrome" "The inherited predisposition toward getting a tumor." "" + "chromosomal disorder" "Clinical conditions caused by an abnormal chromosome constitution in which there is extra or missing chromosome material (either a whole chromosome or a chromosome segment). (from Thompson et al., Genetics in Medicine, 5th ed, p429)" "" + "neoplastic syndrome" "A broad classification for disorders in which the development of neoplasms typically occur in association with a characteristic set of signs or symptoms. These disorders may be inherited or acquired." "" + "mosaic" "A disease characteristic in which the cause of the disease is present in some of the cells of the organism." "" + "obsolete multiple congenital anomalies-hypotonia-seizures syndrome" "" "true" + "obsolete multiple mitochondrial dysfunctions syndrome" "" "true" + "pregnancy loss, recurrent, susceptibility" "" + "obsolete premature aging syndrome" "" "true" + "obsolete progeroid syndrome" "" "true" + "polyposis" "" + "neoplastic polyp" "" + "pulmonary fibrosis and/or bone marrow failure, telomere-related" "" + "pulmonary fibrosis" "Chronic progressive interstitial lung disorder characterized by the replacement of the lung tissue by connective tissue, leading to progressive dyspnea, respiratory failure, or right heart failure. Causes include chronic inflammatory processes, exposure to environmental irritants, radiation therapy, autoimmune disorders, certain drugs, or it may be idiopathic (no identifiable cause)." "" + "bone marrow disorder" "Any disease of the bone marrow." "" + "obsolete retinopathy" "" "true" + "obsolete spondylometaphyseal dysplasia" "" "true" + "symphalangism" "" + "skeletal system disorder" "A disease involving the skeletal system." "" + "thiamine-responsive dysfunction syndrome" "" + "disorder of thiamine metabolism and transport" "" + "transposition of the great arteries" "A congenital cardiac defect in which two heart vessels are reversed (transposed)." "" + "transposition of the great arteries and conotruncal cardiac anomaly" "" + "obsolete Trichohepatoenteric syndrome" "" "true" + "triglyceride storage disease" "An acquired metabolic disease that is has its basis in the disruption of sequestering of triglyceride." "" + "inborn errors of metabolism" "An inherited disorder resulting from an enzyme defect in biochemical and metabolic pathways affecting proteins, fats, carbohydrates metabolism or organelle function." "" + "lysosomal lipid storage disorder" "An inherited metabolic disorder in which harmful amounts of lipids accumulate in cells and tissues. Because of a functionally impaired hydrolase or auxiliary protein, their lipid substrates cannot be degraded, accumulate in the lysosome, and slowly spread to other intracellular membranes." "" + "trigonocephaly" "" + "dysostosis" "A disorder of the development of bone in which ossification is affected." "" + "obsolete episodic pain syndrome, familial" "" "true" + "developmental dysplasia of the hip" "A spectrum of hip abnormalities commonly presenting in infancy involving the relationship between the femoral head and the acetabulum and that includes subluxation or dislocation at rest or upon provocation." "" + "bone development disease" "A disease involving the bone development." "" + "bone marrow failure syndrome" "" + "epilepsy, familial adult myoclonic" "" + "early myoclonic encephalopathy" "Early myoclonic encephalopathy (EME) is characterized clinically by the onset of fragmentary myoclonus appearing in the first month of life, often associated with erratic focal seizures and a suppression-burst EEG pattern." "" + "obsolete adrenal hyperplasia" "" "true" + "autoimmune thyroid disease, susceptibility to" "" + "autoimmune thyroid disease" "Inflammatory disease of the thyroid gland due to autoimmune responses leading to lymphocytic infiltration of the gland. It is characterized by the presence of circulating thyroid antigen-specific T-cells and thyroid autoantibodies. The clinical signs can range from hypothyroidism to thyrotoxicosis depending on the type of autoimmune thyroiditis." "" + "Hashimoto thyroiditis" "An autoimmune disorder caused by the production of autoantibodies against thyroid tissue. There is progressive destruction of the thyroid follicles leading to hypothyroidism." "" + "obsolete breast-ovarian cancer, familial, susceptibility to" "" "true" + "obsolete corneal dystrophy, Fuchs endothelial" "" "true" + "obsolete ectodermal dysplasia-syndactyly syndrome" "" "true" + "encephalopathy, acute, infection-induced" "" + "acute disease" "Disease having a short and relatively severe course." "" + "post-infectious disorder" "A disorder that follows infection but is distinct from the infection itself and its usual manifestations." "" + "Huntington disease and related disorders" "A grouping for Huntington disease and similar diseases." "" + "inherited neurodegenerative disorder" "An inherited disorder characterized by progressive degeneration and atrophy of the nervous system." "" + "obsolete mental retardation, X-linked, nonsyndromic" "" "true" + "microphthalmia, isolated, with cataract" "" + "cataract" "Partial or complete opacity of the crystalline lens of one or both eyes that decreases visual acuity and eventually results in blindness. Some cataracts appear in infancy or in childhood, but most develop in older individuals. (Sternberg Diagnostic Surgical Pathology, 3rd ed.)" "" + "microphthalmia, isolated, with coloboma" "A developmental disorder of the eye characterized by unilateral or bilateral microphthalmia associated with ocular coloboma." "" + "coloboma" "An abnormality in which a part of a structure in one or both eyes is missing." "" + "isolated anophthalmia-microphthalmia syndrome" "Anophthalmia and microphthalmia describe, respectively, the absence of an eye and the presence of a small eye within the orbit." "" + "muscular dystrophy-dystroglycanopathy, type A" "" + "qualitative or quantitative defects of FKRP" "" + "qualitative or quantitative defects of protein O-mannosyltransferase 1" "" + "qualitative or quantitative defects of protein O-mannosyltransferase 2" "" + "disorder of O-mannosylglycan synthesis" "" + "congenital muscular alpha-dystroglycanopathy with brain and eye anomalies" "Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies (MDDGA) is a cobblestone lissencephaly characterized by and considered to be pathognomonic of a continuum of recessive autosomal disorders with brain, ocular and muscular involvement. MDDGA includes Walker-Warburg syndrome, muscle-eye-brain disease, Fukuyama muscular and cerebral dystrophy and muscle eye brain disease with bilateral multicystic leukodystrophy." "True" + "congenital disorder of glycosylation with neurological involvement" "True" + "congenital disorder of glycosylation with developmental anomaly" "True" + "congenital vitreoretinal dysplasia" "" + "myopathy with eye involvement" "True" + "myopathy caused by variation in FKRP" "Any myopathy in which the cause of the disease is a variation in the FKRP gene." "" + "myopathy caused by variation in POMGNT1" "Any myopathy in which the cause of the disease is a variation in the POMGNT1 gene." "" + "muscular dystrophy-dystroglycanopathy, type B" "" + "muscular dystrophy-dystroglycanopathy" "" + "muscular dystrophy-dystroglycanopathy, type C" "" + "obsolete split-hand/foot malformation with long bone deficiency" "" "true" + "obsolete ataxia-telangiectasia-like disorder" "" "true" + "obsolete megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome" "" "true" + "obsolete laryngeal abductor paralysis" "" "true" + "obsolete breasts and/or nipples, aplasia or hypoplasia of" "" "true" + "Neu-Laxova syndrome" "Neu-Laxova syndrome (NLS) is a rare, multiple malformation syndrome characterised by severe intrauterine growth retardation (IUGR), severe microcephaly with a sloping forehead, severe ichthyosis (collodion baby type), and facial dysmorphism." "" + "lissencephaly type 3" "" + "multiple congenital anomalies/dysmorphic syndrome-intellectual disability" "" + "developmental anomaly of metabolic origin" "" + "autosomal ichthyosis syndrome with prominent neurologics signs" "True" + "autosomal ichthyosis syndrome with fatal disease course" "True" + "3-phosphoglycerate dehydrogenase deficiency" "" + "genetic multiple congenital anomalies/dysmorphic syndrome" "An instance of multiple congenital anomalies/dysmorphic syndrome that is caused by an inherited modification of the individual's genome." "" + "obsolete inflammatory skin and bowel disease, neonatal" "" "true" + "microcephaly and chorioretinopathy" "" + "chorioretinitis" "Inflammation of the distal posterior uveal tract (choroid) and its structural and vascular attachments to the retina. It is usually caused by infection and though rare, it is clinically significant due to its most serious sequela: loss of vision." "" + "congenital myasthenic syndrome with tubular aggregates" "A congenital myasthenic syndrome with a finding of tubular aggregates in myofibers." "" + "congenital myasthenic syndrome" "Congenital myasthenic syndrome (CMS) is a group of genetic disorders of impaired neuromuscular transmission at the motor endplate characterized by fatigable muscle weakness." "" + "obsolete hypertrophic osteoarthropathy, primary" "" "true" + "obsolete congenital vitamin K-dependent coagulation factors combined deficiency" "" "true" + "obsolete polyposis syndrome, hereditary mixed" "" "true" + "obsolete spondyloepimetaphyseal dysplasia with joint laxity" "" "true" + "obsolete ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome" "" "true" + "GLUT1 deficiency syndrome" "" + "neurometabolic disease" "" + "glucose transport disorder" "An acquired metabolic disease that is has its basis in the disruption of glucose transport." "" + "metabolic epilepsy" "Metabolic epilepsies are conceptualized as having a distinct metabolic abnormality that has been demonstrated to be associated with a substantially increased risk of developing epilepsy in appropriately designed studies. Metabolic disorders have genetic origin; however, the metabolic abnormalities are a separate disorder interposed between the genetic defect and the epilepsy." "" + "obsolete Schindler disease" "" "true" + "ventricular fibrillation" "A disorder characterized by an electrocardiographic finding of a rapid grossly irregular ventricular rhythm with marked variability in QRS cycle length, morphology, and amplitude. The rate is typically greater than 300 bpm. (CDISC)" "" + "cardiac rhythm disease" "Any variation from the normal rate or rhythm (which may include the origin of the impulse and/or its subsequent propagation) in the heart." "" + "obsolete renal hypodysplasia/aplasia" "" "true" + "polyglucosan body myopathy" "" + "myopathy" "A disease of the muscle in which the muscle fibers do not function properly. This results in muscular weakness." "" + "cortisone reductase deficiency" "A disorder in which there is a failure to regenerate the active glucocorticoid cortisol from cortisone via 11beta-HSD1. The resulting lack of cortisol regeneration stimulates ACTH-mediated adrenal hyperandrogenism, with males manifesting in childhood with precocious pseudopuberty and females presenting in adolescence and early adulthood with hirsutism, oligoamenorrhea, and infertility." "" + "inherited lipid metabolism disorder" "An inherited metabolic disorder caused by an enzyme deficiency, resulting in an inability to oxidize fatty acids for energy production." "" + "adrenogenital syndrome" "Abnormal sex differentiation or congenital disorders of sex development caused by abnormal levels of steroid hormones expressed by the gonads or the adrenal glands, such as in congenital adrenal hyperplasia and adrenal cortex neoplasms. Due to abnormal steroid biosynthesis, clinical features include virilism in females; feminization in males; or precocious sexual development in children." "" + "anomaly of puberty or/and menstrual cycle of genetic origin" "An instance of anomaly of puberty or/and menstrual cycle that is caused by a modification of the individual's genome." "" + "obsolete Otofaciocervical syndrome" "" "true" + "obsolete atrial standstill" "" "true" + "obsolete ataxia-oculomotor apraxia" "" "true" + "obsolete singleton-Merten syndrome" "" "true" + "obsolete linear skin defects with multiple congenital anomalies" "" "true" + "obsolete familial adenomatous polyposis" "" "true" + "Zimmermann-Laband syndrome" "Zimmermann-Laband syndrome (ZLS) is a rare disorder characterized by gingival fibromatosis, coarse facial appearance, and absence or hypoplasia of nails or terminal phalanges of hands and feet." "" + "obsolete thyroid cancer, nonmedullary" "" "true" + "obsolete Heimler syndrome" "" "true" + "obsolete Dehydrated hereditary stomatocytosis" "" "true" + "obsolete skin creases, congenital symmetric circumferential" "" "true" + "obsolete radioulnar synostosis with amegakaryocytic thrombocytopenia" "" "true" + "obsolete cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy" "" "true" + "obsolete hypotonia, infantile, with psychomotor retardation and characteristic facies" "" "true" + "microcephaly, short stature, and impaired glucose metabolism 1" "" + "primary microcephaly-mild intellectual disability-young-onset diabetes syndrome" "" + "prenatal-onset spinal muscular atrophy with congenital bone fractures" "" + "arthrogryposis multiplex congenita" "Arthrogryposis multiplex congenita (AMC) is a group of disorders characterized by congenital limb contractures. It manifests as limitation of movement of multiple limb joints at birth that is usually non-progressive and may include muscle weakness and fibrosis. AMC is always associated with decreased intrauterine fetal movement which leads secondarily to the contractures." "" + "hereditary motor neuron disease" "An instance of motor neuron disease that is caused by an inherited modification of the individual's genome." "" + "spinal muscular atrophy" "Spinal muscular atrophy (SMA) refers to a group of inherited conditions that affect the muscles. The severity of the condition; the associated signs and symptoms; and the age at which symptoms develop varies by subtype. In general, people with SMA experience progressive weakness and atrophy of muscles involved in mobility, the ability to sit unassisted, and head control. Breathing and swallowing may also be affected in severe cases. SMA is generally caused by changes (mutations) in the SMN1 gene and is inherited in an autosomal recessive manner. Extra copies of the SMN2 gene modify the severity of SMA. Rare autosomal dominant (caused by mutations in DYNC1H1, BICD2, or VAPB genes) and X-linked (caused by mutations in UBA1) forms of SMA exist. Treatment is based on the signs and symptoms present in each person." "" + "thiopurine metabolic disease" "" + "striatal degeneration, autosomal dominant" "An adult-onset movement disorder characterized by bradykinesia, dysarthria and muscle rigidity." "" + "striatonigral degeneration" "A progressive neurodegenerative disorder caused by a disruption in the connection between the striatum and the substantia nigra. It is a type of multiple system atrophy (MSA). Signs and symptoms include rigidity, instability, impaired speech, and slow movements." "" + "hypercalcemia, infantile" "A hypercalcemia disease that occurs between 28 days to one year of life.." "" + "hypercalcemia disease" "Abnormally high concentration of calcium in the peripheral blood." "" + "endocrine system disorder" "A disease involving the endocrine system." "" + "nephropathy secondary to a storage or other metabolic disease" "" + "autoimmune disease, multisystem, infantile-onset" "" + "autoimmune disease" "A disorder resulting from loss of function or tissue destruction of an organ or multiple organs, arising from humoral or cellular immune responses of the individual to their own tissue constituents. It may be systemic (e.g., systemic lupus erythematosus), or organ specific, (e.g., thyroiditis)." "" + "hypermanganesemia with dystonia" "" + "obsolete epilepsy, familial focal, with variable foci" "" "true" + "obsolete congenital bilateral aplasia of vas deferens" "" "true" + "obsolete Frontometaphyseal dysplasia" "" "true" + "preimplantation embryonic lethality" "" + "obsolete uncombable hair syndrome" "" "true" + "obsolete anterior segment dysgenesis" "" "true" + "obsolete cerebroretinal microangiopathy with calcifications and cysts" "" "true" + "seminal vesicle acute gonorrhea" "Acute form of gonococcal seminal vesiculitis." "" + "gonococcal seminal vesiculitis" "A gonorrhea that involves the seminal vesicle." "" + "obsolete chikungunya" "" "true" + "acquired carbohydrate metabolism disease" "An acquired metabolic disease that is has its basis in the disruption of carbohydrate metabolism." "" + "acquired metabolic disease" "An instance of metabolic disease that is acquired during the lifetime of the individual." "" + "carbohydrate metabolism disease" "A disease that has its basis in the disruption of carbohydrate metabolic process." "" + "human monocytic ehrlichiosis" "A form of ehrlichiosis associated with Ehrlichia chaffeensis, an obligate intracellular pathogen affecting monocytes and macrophages." "" + "ehrlichiosis" "Human ehrlichiosis and anaplasmosis describe a group of acute febrile tick-borne diseases characterized by an overlapping clinical picture that includes fever, headache, myalgias, arthralgias, skin eruptions, gastrointestinal symptoms and neurological manifestations. Diseases in this group include human monocytotropic ehrlichiosis (HME), human granulocytotropic anaplasmosis (HGA), and human ehrlichiosis ewingii (HEE)." "" + "leukocyte disorder" "A disease involving leukocytes." "" + "mineral metabolism disease" "" + "African tick-bite fever" "" + "infectious disease" "A disorder directly resulting from the presence and activity of a microbial, viral, or parasitic agent. It can be transmitted by direct or indirect contact." "" + "spotted fever" "A type of tick-borne disease which presents on the skin caused by bacteria of the genus Rickettsia." "" + "obsolete Astrakhan spotted fever" "" "true" + "Indian tick typhus" "An infectious disease caused by infection with rickettsia conorii subsp. coronorii." "" + "Rickettsia conorii infectious disease" "" + "Israeli tick typhus" "An infectious disease caused by infection with rickettsia conorii subsp. israelensis." "" + "Far eastern spotted fever" "" + "Flinders island spotted fever" "A spotted fever that has material basis in Rickettsia honei, which is transmitted by cayenne ticks (Amblyomma cajennense). The infection has symptom mild spotted fever, has symptom eschar and has symptom adenopathy." "" + "Japanese spotted fever" "A spotted fever that has material basis in Rickettsia japonica, which is transmitted by ticks (Dermacentor taiwanensis and Haemaphysalis flava). The infection has symptom fever, has symptom eschars, has symptom regional adenopathy, and has symptom rash on extremities." "" + "Rickettsia parkeri spotted fever" "A spotted fever that has material basis in Rickettsia parkeri, which is transmitted by Gulf Coast tick (Amblyomma maculatum). The infection has symptom fever, has symptom headache, has symptom eschar, and has symptom rash." "" + "obsolete Rocky mountain spotted fever" "" "true" + "oropharyngeal anthrax" "A anthrax infection that involves the oropharynx." "" + "anthrax infection" "An infection caused by Bacillus anthracis bacteria. It may affect the lungs, gastrointestinal tract, or skin. Patients with lung infection present with fever, headaches, cough, chest pain and shortness of breath. Patients with gastrointestinal infection present with nausea, vomiting and bloody diarrhea. Patients with skin infection develop blisters and ulcers." "" + "gastrointestinal anthrax" "An anthrax disease that results in infection located in mucosa of gastrointestinal tract, has material basis in Bacillus anthracis, which is transmitted by ingestion of anthrax-infected meat. The infection has symptom lesions, has symptom vomiting of blood, has symptom severe diarrhea, has symptom loss of appetite." "" + "disorder of pharynx" "A non-neoplastic or neoplastic disorder that affects the pharynx. Representative examples include pharyngitis and carcinoma." "" + "digestive system infectious disorder" "A viral, bacterial, fungal, or parasitic infectious process that affects the digestive system." "" + "erysipeloid" "An infection caused by Erysipelothrix rhusiopathiae that is almost wholly restricted to persons who in their occupation handle infected fish, shellfish, poultry, or meat. Three forms of this condition exist: a mild localized form manifested by local swelling and redness of the skin; a diffuse form that might present with fever; and a rare systemic form associated with endocarditis." "" + "Erysipelothrix rhusiopathiae infectious disease" "A disease caused by infection with Erysipelothrix rhusiopathiae." "" + "primary bacterial infectious disease" "" + "pestis minor" "A mild form of bubonic plague characterized by symptoms such as mild fever and lymphadenitis." "" + "bubonic plague" "A plague in which the bacteria have infected the lymphatic system." "" + "adiaspiromycosis" "Adiaspiromycosis is a rare fungal infection in the lung and is caused by inhalation of spores of the saprophytic soil fungus Chrysosporium parvum var crescens (previously known as Emmonsia crescens)." "" + "primary systemic mycosis" "A systemic mycosis that arises from infection in an immunologically normal host." "" + "fungal lung infectious disease" "Pulmonary diseases caused by fungal infections, usually through hematogenous spread." "" + "invasive aspergillosis" "An aspergillosis that is a serious fungal infection of the lung with pneumonia caused by Aspergillus, which spreads to other parts of the body through bloodstream in patients with acute leukemia and recipients of tissue transplants. Clinical symptoms include pulmonary nodules and hemorrhage." "" + "pulmonary aspergilloma" "A aspergillosis that involves the lung." "" + "Keshan disease" "A congestive cardiomyopathy caused by a combination of dietary deficiency of selenium and the presence of a mutated strain of Coxsackievirus." "" + "nutritional deficiency disease" "A condition produced by dietary or metabolic deficiency. The term includes all diseases caused by an insufficient supply of essential nutrients, i.e., protein (or amino acids), vitamins, and minerals. It also includes an inadequacy of calories. (From Dorland, 27th ed; Stedman, 25th ed)" "" + "cardiomyopathy" "A disease of the heart muscle or myocardium proper. Cardiomyopathies may be classified as either primary or secondary, on the basis of etiology, or on the pathophysiology of the lesion: hypertrophic, dilated, or restrictive." "" + "enterovirus infectious disease" "An disease caused by infection with Enterovirus." "" + "tinea barbae" "A dermatophytosis that involves the beard." "" + "dermatophytosis" "A common fungal infection of the stratum corneum of the skin, hair, or nails by a dermatophyte. It is characterized by itching, inflammation, redness of the skin, small papular vesicles, central clearing, fissures, scaling, and/or hair loss in the affected area." "" + "face disorder" "A disease or disorder that involves the face." "" + "ectothrix infectious disease" "A dermatophyte infection of the hair that infects the hair surface." "" + "endothrix infectious disease" "A dermatophyte infection of the hair that nvade the hair shaft and internalize into the hair cell." "" + "piedra" "Either of two diseases resulting from fungal infection of the hair shafts. Black piedra occurs mainly in and on the hairs of the scalp and is caused by Piedraia hortae; white piedra occurs in and on the hairs of the scalp, beard, moustache and genital areas and is caused by Trichosporon species." "" + "tinea imbricata" "A tinea corporis that results in fungal infection located in skin, has material basis in Trichophyton concentricum, which is characterized by ring-like growth in overlapping circles that may have an autosomal dominant genetic predisposition." "" + "tinea corporis" "A dermatophyte disease of the glabrous skin, excluding the scalp, beard, face, hands, feet, and groin." "" + "obsolete la Crosse encephalitis" "" "true" + "obsolete hemophagocytic lymphohistiocytosis" "A rare but potentially life-threatening disorder characterized by the proliferation of histiocytes and macrophages and phagocytosis of red blood cells, white blood cells, and platelets. It may be inherited or secondary, due to infections, autoimmune disorders, or underlying malignancies. Signs and symptoms include fever, lymphadenopathy, hepatomegaly, splenomegaly, and pancytopenia." "" "true" + "dengue shock syndrome" "A dengue disease that involves the most severe form of dengue fever, has material basis in Dengue virus [NCBITaxon:12637] with four serotypes (Dengue virus 1, 2, 3 and 4), which are transmitted by Aedes mosquito bite. The infection has symptom easy bruising, has symptom blood spots, has symptom bleeding gums, and has symptom nosebleeds. It is accompanied by circulatory collapse, involves hypotension, narrow pulse pressure (less than or equal to 20mm Hg), or frank shock. The shock occurs after two to six days of symptoms, followed by collapse, weak pulse, and blueness around the mouth." "" + "Dengue hemorrhagic fever" "A serious condition caused by Dengue virus infection. Patients present with an acute febrile illness followed by restlessness, irritability, and bleeding. It may lead to hemorrhagic shock and death." "" + "secretory diarrhea" "Watery voluminous diarrhea resulting from an imbalance between ion and water secretion and absorption." "" + "diarrheal disease" "The condition of having at least three loose or liquid bowel movements each day." "" + "osmotic diarrheal disease" "A diarrhea that results from the presence of osmotically active, poorly absorbed solutes in the bowel lumen that inhibit normal water and electrolyte absorption." "" + "non-infectious diarrheal disease" "" + "diarrheal disease secondary to altered bowel motility" "A diarrhea that results from either increased or decreased motility in the bowel." "" + "inflammatory diarrhea" "An diarrhea (disease) involving a pathogenic inflammatory response in the intestinal mucosa." "" + "gastrointestinal mucositis" "Inflammation of the mucous membranes lining the gastrointestinal tract." "" + "gastroenteritis" "An inflammatory disorder that affects the upper and lower gastrointestinal tract. Most commonly, this is attributed to viruses; however bacteria, parasites or adverse reactions can also be the culprit. Symptoms include acute diarrhea and vomiting." "" + "fungal infectious disease" "An infection caused by a fungus." "" + "disorder of pilosebaceous unit" "A disease that involves the pilosebaceous unit." "" + "superficial mycosis" "A mycosis that is limited to the stratum corneum and essentially elicits no inflammation." "" + "skin appendage disorder" "A disease that involves the cutaneous appendage." "" + "cutaneous mycosis" "A mycosis that involves the integument and its appendages, including hair and nails. Infection may involve the stratum corneum or deeper layers of the epidermis." "" + "integumentary system disorder" "A disease involving the integumental system." "" + "restricted to specific location" "" + "subcutaneous mycosis" "A mycosis that involves subcutaneous tissue. There are three general types of subcutaneous mycoses: chromoblastomycosis, mycetoma, and sporotrichosis." "" + "systemic mycosis" "A mycosis that involves the lungs, abdominal viscera, bones and or central nervous system." "" + "disseminated" "" + "acute diarrhea" "Acute form of diarrhea." "" + "obsolete intestinal botulism" "" "true" + "asymptomatic dengue" "" + "dengue disease" "Dengue fever (DF), caused by dengue virus, is an arboviral disease characterized by an initial non-specific febrile illness that can sometimes progress to more severe forms manifesting capillary leakage and hemorrhage (dengue hemorrhagic fever, or DHF) and shock (dengue shock syndrome, or DSS)." "" + "obsolete Kartagener syndrome" "" "true" + "adenoiditis" "An inflammatory disease involving a pathogenic inflammatory response in the pharyngeal tonsil." "" + "tonsillitis" "Inflammation of the tonsillar tissue." "" + "nasopharyngitis" "An inflammatory process that affects the nasopharynx." "" + "otomycosis" "Fungus infection of the external ear, usually by aspergillus species" "" + "otitis externa" "Inflammation of the anatomical structures of the outer ear and ear canal secondary to an infectious process. Bacterial etiology is most common, but fungal infection is also possible. Symptoms include erythema, edema, and pain." "" + "skin disorder caused by infection" "Skin diseases caused by bacteria, fungi, parasites, or viruses." "" + "laryngotracheitis" "An inflammation of both larynx and trachea." "" + "laryngitis" "An acute or chronic, bacterial or viral inflammatory process affecting the larynx. Signs and symptoms include sore throat, cough, swallowing difficulties, and hoarseness." "" + "tracheitis" "A tracheal disease which involves bacterial infection of the trachea often caused by Staphylococcus aureus and streptococci that follows a recent viral upper respiratory infection. The symptoms include barking croup cough, loud squeaking noise while breathing, scratchy feeling in the throat, high fever, and production of large amounts of pus-filled secretions." "" + "obsolete Pontiac fever" "" "true" + "aspiration pneumonia" "A type of lung inflammation resulting from the aspiration of food, liquid, or gastric contents into the upper respiratory tract." "" + "pneumonia" "An acute, acute and chronic, or chronic inflammation focally or diffusely affecting the lung parenchyma, caused by an infection in one or both of the lungs (by bacteria, viruses, fungi, or mycoplasma.). Symptoms include cough, shortness of breath, fevers, chills, chest pain, headache, sweating, and weakness." "" + "aspergillosis" "Aspergillosis is an infection, growth, or allergic response caused by the Aspergillus fungus. There are several different kinds of aspergillosis. One kind is allergic bronchopulmonary aspergillosis (also called ABPA), a condition where the fungus causes allergic respiratory symptoms similar to asthma, such as wheezing and coughing, but does not actually invade and destroy tissue. Another kind of aspergillosis is invasive aspergillosis. This infection usually affects people with weakened immune systems due to cancer, AIDS, leukemia, organ transplantation, chemotherapy, or other conditions or events that reduce the number of normal white blood cells. In this condition, the fungus invades and damages tissues in the body. Invasive aspergillosis most commonly affects the lungs, but can also cause infection in many other organs and can spread throughout the body (commonly affecting the kidneys and brain). Aspergilloma, a growth (fungus ball) that develops in an area of previous lung disease such as tuberculosis or lung abscess, is a third kind of aspergillosis. This type of aspergillosis is composed of a tangled mass of fungus fibers, blood clots, and white blood cells. The fungus ball gradually enlarges, destroying lung tissue in the process, but usually does not spread to other areas." "" + "obsolete cryptogenic organizing pneumonia" "" "true" + "obsolete lymphoid interstitial pneumonia" "" "true" + "obsolete inhalation anthrax" "" "true" + "lower respiratory tract disorder" "A disease involving the lower respiratory tract." "" + "respiratory system disorder" "A non-neoplastic or neoplastic disorder that affects the respiratory system. Representative examples include pneumonia, chronic obstructive pulmonary disease, pulmonary failure, lung adenoma, lung carcinoma, and tracheal carcinoma." "" + "tuberculous salpingitis" "An urogenital tuberculosis involving a pathogenic inflammatory response in the fallopian tube." "" + "salpingitis" "Acute or chronic inflammation of the fallopian tube. It is most often caused by Neisseria gonorrhoeae and Chlamydia trachomatis infections. The infections usually originate in the vagina and ascend to the fallopian tube. Symptoms include abdominal, pelvic, and lower back pain, pain during ovulation and sexual intercourse, fever, nausea, and vomiting. Complications include infertility and ectopic pregnancy." "" + "urogenital tuberculosis" "A general term for mycobacterium infections of any part of the urogenital system in either the male or the female." "" + "obsolete autoimmune polyendocrine syndrome type 2" "" "true" + "Kunjin virus infectous disease" "" + "West-Nile encephalitis" "An acute arboviral infection caused by a virus of the Flaviviridae family transmitted by an infected mosquito, that is asymptomatic in the majority of cases but that can present in rare occasions with mild flulike symptoms such as low-grade fever, arthralgia, myalgia, and/or rash, or with neurologic manifestations including meningitis, encephalitis with mental confusion or disorientation, tremors and acute flaccid paralysis/poliomyelitis." "" + "obsolete tick-borne encephalitis" "" "true" + "obsolete monogenic disease" "A genetic disease that is the result of one or more abnormal alleles and may be dominant (a single copy of the abnormal allele is sufficient to give rise to the disease), semi-dominant, or recessive (requiring both copies of the gene to have an abnormal allele)." "" "true" + "Powassan encephalitis" "A disease caused by infection with Powassan virus." "" + "Flaviviridae infectious disease" "Infections with viruses of the family flaviviridae." "" + "viral encephalitis" "Encephalitis resulting from viral infection." "" + "tick-borne infectious disease" "Bacterial, viral, or parasitic diseases transmitted to humans and animals by the bite of infected ticks. The families Ixodidae and Argasidae contain many bloodsucking species that are important pests of man and domestic birds and mammals and probably exceed all other arthropods in the number and variety of disease agents they transmit. Many of the tick-borne diseases are zoonotic." "" + "obsolete Argentine hemorrhagic fever" "" "true" + "obsolete Bolivian hemorrhagic fever" "" "true" + "obsolete Venezuelan hemorrhagic fever" "" "true" + "obsolete Brazilian hemorrhagic fever" "" "true" + "obsolete Chapare hemorrhagic fever" "" "true" + "Whitewater Arroyo hemorrhagic fever" "A viral infectious disease that is a hemorrhagic fever, has material basis in Whitewater Arroyo virus, which is transmitted by white-throated woodrats (Neotoma albigula). The infection has symptom fever, has symptom headache, has symptom myalgia, and has symptom hemorrhagic manifestations." "" + "Arenaviridae infectious disease" "Virus diseases caused by the arenaviridae." "" + "vector-borne disease" "An infectious disease where a pathogen is carried and transmitted by another organism that acts as disease vector." "" + "Hantavirus hemorrhagic fever with renal syndrome, Seoul virus type" "" + "hantavirus hemorrhagic fever with renal syndrome" "A disorder caused by hantaviruses of the family Bunyaviridae. It is transmitted by rodents and is manifested with fever, hemorrhage, and renal failure. Other symptoms include headaches, abdominal and back pain, and blurred vision." "" + "Hantavirus hemorrhagic fever with renal syndrome, Puumala virus type" "" + "obsolete lujo hemorrhagic fever" "" "true" + "Epstein-Barr virus hepatitis" "A viral hepatitis that results in inflammation, located in liver, has material basis in Human herpesvirus 4 and has symptom headache, has symptom fatigue, has symptom fever, has symptom abdominal pain, has symptom nausea, and has symptom jaundice." "" + "Epstein-Barr virus infection" "An infection that is caused by Epstein-Barr virus." "" + "viral hepatitis" "An acute or chronic inflammation of the liver parenchyma caused by viruses. Representative examples include hepatitis A, B, and C, cytomegalovirus hepatitis, and herpes simplex hepatitis." "" + "obsolete Lambert-Eaton myasthenic syndrome" "" "true" + "polycystic echinococcosis" "" + "echinococcosis" "A parasitic infection caused by tapeworm larvae of Echinococcus. It affects livestock and humans. It is characterized by the formation of hydatid cysts mainly in the liver, lungs, spleen, and kidneys. Rupture of the cysts may lead to shock." "" + "liver disorder" "A disease involving the liver." "" + "obsolete selective IgM deficiency disease" "" "true" + "primary amebic meningoencephalitis" "A infectious disease involving the Naegleria fowleri." "" + "protozoa infectious disease" "An infection that is caused by protozoans." "" + "infectious encephalitis" "An acute infectious process that affects the brain tissue. It is usually caused by viruses and less often by bacteria, parasites, and fungi." "" + "granulomatous amebic encephalitis" "Granulomatous amebic encephalitis is a life-threatening infection of the brain caused by the free-living amoebae Acanthamoeba spp., Balamuthia mandrillaris and Sappinia pedata. Acanthamoeba species, are commonly found in lakes, swimming pools, tap water, and heating and air conditioning units. The disease affects immunocompromised peple and is very serious. Symptoms include mental status changes, loss of coordination, fever, muscular weakness or partial paralysis affecting one side of the body, double vision, sensitivity to light and other neurologic problems. The diagnosis is difficult and is often made at advanced stages. Tests useful in the diagnosis include brain scans, biopsies, or spinal taps and in disseminated disease, biopsy of the involved sites and testing by the laboratory experts. Early diagnosis is important for the prognosis. No single drug is effective; hence multiple antibiotics are needed for successful treatment. A combination of surgical and medical interventions involving multiple specialty experts is required to prevent death and morbidity in survivors." "" + "Acanthamoeba infectious disease" "A infectious disease involving the Acanthamoeba." "" + "philophthalmiasis" "A disease caused by infection with Philophthalmus." "" + "echinostomiasis" "Infection by flukes of the genus Echinostoma." "" + "coenurosis" "A parasitic infection that develops in the intermediate hosts of some tapeworm species (Taenia multiceps, T. serialis, T. brauni, or T. glomerata) and are caused by the coenurus, the larval stage of these worms. This disease occurs mainly in sheep and other ungulates, but occasionally can occur in humans too by accidental ingestion of worms' eggs." "" + "taeniasis" "A parasitic infection caused by tapeworms of the genus Taenia. Humans are infected by eating undercooked or raw meat of infected animals. It is usually an asymptomatic infection and patients may become aware of the infection by noticing segments of the tapeworm in their feces. If symptoms are present, they include nausea, abdominal pain, indigestion, constipation, or diarrhea." "" + "mesocestoidiasis" "An disease or disorder caused by infection with Mesocestoides." "" + "Cestode infectious disease" "Infections with true tapeworms of the helminth subclass Cestoda." "" + "acanthocephaliasis" "An disease or disorder caused by infection with Acanthocephala." "" + "helminthiasis" "A parasitic infection characterized by the infestation with worms, mainly in the intestine." "" + "obsolete angiostrongyliasis" "" "true" + "baylisascariasis" "An infection that is caused by the raccoon nematode Baylisascaris procyonis, which is transmitted by the ingestion of embryonated eggs in contaminated soil; symptoms depend on larval migration sites (visceral organs, eye, or brain) provoking severe inflammatory responses." "" + "Ascaridida infectious disease" "Infections with nematodes of the order ascaridida." "" + "dioctophymiasis" "A disease caused by infection with Dioctophyme renale." "" + "Enoplea infectious disease" "Infections with nematodes of the order enoplida." "" + "thelaziasis" "A disease caused by infection with Thelazia." "" + "Rhabditida infectious disease" "Infections with nematodes of the order rhabditida." "" + "obsolete tungiasis" "" "true" + "ophthalmomyiasis" "An myiasis caused by infection with Oestrus ovis." "" + "myiasis" "The infection of a fly larva (maggot) in human tissue, which most commonly occurs in tropical climates. Affected tissues most commonly include skin, especially if open wounds are present, nasal passages, ears, and eyes." "" + "hypodermyiasis" "Infestation with larvae of the genus Hypoderma, the warble fly." "" + "basidiobolomycosis" "A disease caused by infection with Basidiobolus." "" + "Zygomycosis" "Any infection due to a fungus of the Zygomycota phylum. The disease typically involves the rhino-facial-cranial area, lungs, gastrointestinal tract, skin, or less commonly other organ systems. The infecting fungi have a predilection for invading vessels of the arterial system, causing embolization and subsequent necrosis of surrounding tissue." "" + "skin disorder" "Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." "" + "conidiobolomycosis" "" + "penicilliosis" "A disease caused by infection with Talaromyces marneffei." "" + "opportunistic systemic mycosis" "A mycosis that arises from infection in an immunologically compromised host and is systemic." "" + "obsolete fusariosis" "" "true" + "trichosporonosis" "Fungal infections caused by trichosporon that may become systemic especially in an immunocompromised host. Clinical manifestations range from superficial cutaneous infections to systemic lesions in multiple organs." "" + "parasitic Ichthyosporea infectious disease" "A disease caused by infection with Ichthyosporea." "" + "parasitic infectious disease" "A successful invasion of a host by an organism that uses the host for food and shelter." "" + "primary infectious" "A characteristic of an infectious disease in which the disease affects an immunologically normal host." "" + "opportunistic mycosis" "A mycosis that arises from infection in an immunologically compromised host." "" + "aniseikonia" "A condition in which the ocular image of an object as seen by one eye differs in size and shape from that seen by the other." "" + "refractive error" "A defect in the focusing of light on the retina as in astigmatism, myopia, or hyperopia." "" + "Alkhurma hemorrhagic fever" "A disease caused by infection with Alkhumra hemorrhagic fever virus." "" + "Kyasanur forest disease" "Kyasanura forest disease (KFD), caused by the KFD virus, is an arbovirus characterized by an initial fever, headache and myalgia that can progress to a hemorrhagic disease and that in some cases is followed by a second phase characterized by neurological manifestations." "" + "obsolete congenital hypothyroidism" "" "true" + "obsolete enlarged vestibular aqueduct" "" "true" + "hypophosphatemia" "Lower than normal levels of phosphates in the circulating blood." "" + "phosphorus metabolism disease" "A metabolic disorder that affects the phosphate homeostasis." "" + "bacterial infectious disease" "An acute infectious disorder that is caused by gram positive or gram negative bacteria; representative examples include pneumococcal, streptococcal, salmonella, and meningeal infections." "" + "commensal bacterial infectious disease" "A bacterial infectious disease that results in infection by bacteria which are part of the normal human flora when one or more of the defense mechanisms designed to restrict them from the usually sterile internal tissues are breached by accident, by intent (surgery), or by an underlying metabolic or an infectious disorder." "" + "opportunistic bacterial infectious disease" "" + "opportunistic infectious" "A characteristic of an infectious disease in which the disease affects an immunologically compromised host." "" + "obsolete foodborne botulism" "" "true" + "obsolete wound botulism" "" "true" + "obsolete infant botulism" "" "true" + "glandular tularemia" "A tularemia that involves the lymph node." "" + "tularemia" "Tularemia is an infection caused by the bacterium Francisella tularensis. It is more common in rodents and rabbits but has been found in other animals including domestic cats, sheep, birds, and hamsters. Humans can become infected in several different ways: by handling infected animals, through tick or deer fly bites, by drinking contaminated water, or by inhaling contaminated dust or aerosols. Person-to-person transmission has not been reported. The type of tularemia and the particular signs and symptoms vary depending on how the bacteria enter the body. However, fever is seen in most cases. Though tularemia can be life-threatening, most infections can be treated with antibiotics." "" + "lymph node disorder" "Any disorder of the lymph nodes." "" + "typhoidal tularemia" "A tularemia that results in bacteremia and has symptom fever, has symptom chills, has symptom myalgia, has symptom malaise, and has symptom weight loss." "" + "obsolete Carrion disease" "A disease caused by infection with Bartonella bacilliformis." "" "true" + "obsolete familial adenomatous polyposis" "" "true" + "obsolete familial partial lipodystrophy" "" "true" + "obsolete pachyonychia congenita" "" "true" + "obsolete lissencephaly" "" "true" + "Buruli ulcer disease" "A cutaneous infection caused by Mycobacterium ulcerans. It presents with painless nodular swelling of the skin, leading to the formation of necrotizing ulcers." "" + "mycobacterial infectious disease" "Infection due to organisms from the genus Mycobacteria." "" + "hyperphosphatemia" "Abnormally high level of phosphate in the blood." "" + "obsolete epidemic typhus" "" "true" + "endemic typhus" "A bacterial infection caused by Rickettsia typhi." "" + "typhus" "A group of infectious diseases that include epidemic typhus, scrub typhus and murine typhus." "" + "Rickettsia helvetica spotted fever" "A disease caused by infection with Rickettsia helvetica." "" + "sennetsu fever" "An ehlrichiosis caused by Neorickettsia sennetsu." "" + "Neorickettsia infectious disease" "A disease caused by infection with Neorickettsia." "" + "early congenital syphilis" "A congenital syphilis that is manifested between 0 and 2 years old." "" + "congenital syphilis" "A life-threatening bacterial infection of the newborn caused by Treponema pallidum. It is transmitted to the infant from a mother with syphilis through the placenta during pregnancy. Signs and symptoms include irritability, fever, failure to thrive, saddle nose, cutaneous rash, and pneumonia." "" + "multinodular goiter" "Nodular goiter characterized by more than one discrete tissue mass." "" + "nodular goiter" "Goiter characterized by discrete tissue mass(es) that may or may not produce thyroid hormones." "" + "parenchymatous neurosyphilis" "A tertiary neurosyphilis that results when chronic meningoencephalitis causes destruction of cortical parenchyma. The infection has symptom irritability, has symptom difficulty concentrating, has symptom deterioration of memory, has symptom defective judgment, has symptom headaches, has symptom insomnia, has symptom fatigue, and has symptom lethargy." "" + "neurosyphilis" "Infection of the brain or spinal cord by Treponema pallidum. It occurs many years following the original infection which remained untreated. Signs and symptoms include abnormal gait, blindness, depression, paralysis, seizures and dementia." "" + "insomnia" "A sleep disorder characterized by difficulty in falling asleep and/or remaining asleep." "" + "meningovascular neurosyphilis" "A tertiary neurosyphilis that results in inflammation located in arteries of the brain or located in arteries of spinal cord. The infection has symptom headache, has symptom neck stiffness, has symptom dizziness, has symptom behavioral abnormalities, has symptom poor concentration, has symptom memory loss, has symptom lassitude, has symptom insomnia, has symptom blurred vision, has symptom weakness and wasting of shoulder-girdle and arm muscles, has symptom slowly progressive leg weakness with urinary or fecal incontinence or both, and has symptom paralysis of the legs due to thrombosis of spinal arteries." "" + "exanthema subitum" "An infection that is due to human herpesvirus (HHV) types 6 or 7; it is characterized by 3-5 days of high fever followed by the acute onset of a rosy, pink, non-pruritic, macular rash that is predominantly on the neck and trunk." "" + "viral infectious disease" "Any disease caused by a virus." "" + "exanthem" "Any change in the skin which affects its appearance or texture. A rash may be localized to one part of the body, or affect all the skin. Rashes may cause the skin to change color, itch, become warm, bumpy, dry, cracked or blistered, swell and may be painful." "" + "variola major infectious disease" "" + "smallpox" "A condition that is caused by infection with Variola, and that is characterized by small, raised bumps." "" + "spinal polio" "A paralytic poliomyelitis in which the site of paralysis is the spinal cord." "" + "paralytic poliomyelitis" "A poliomyelitis that results in destruction located in motor neurons of central nervous system, has material basis in Human poliovirus 1, has material basis in Human poliovirus 2, or has material basis in Human poliovirus 3, which are transmitted by ingestion of food or water contaminated with feces, or transmitted by direct contact with the oral secretions. The infection has symptom loss of reflexes, has symptom muscle spasms, and has symptom acute flaccid paralysis." "" + "bulbospinal polio" "A paralytic poliomyelitis in which the site of paralysis is the bulbospinal tract." "" + "poliomyelitis" "An acute infectious disorder that affects the nervous system. It is caused by the poliovirus. The virus spreads by direct contact, and can be prevented by prophylaxis with the polio vaccine." "" + "acute nonparalytic poliomyelitis" "A poliomyelitis that does not exhibit paralysis." "" + "O'nyong'nyong fever" "An disease or disorder caused by infection with O'nyong-nyong virus." "" + "Alphavirus infectious disease" "Virus diseases caused by members of the alphavirus genus of the family togaviridae." "" + "Barmah forest virus disease" "A disease caused by infection with Barmah Forest virus." "" + "Ross river fever" "A disease caused by infection with Ross River virus." "" + "Oropouche fever" "A disease caused by infection with Oropouche virus." "" + "Bunyaviridae infectious disease" "Virus diseases caused by the bunyaviridae." "" + "Hantavirus hemorrhagic fever with renal syndrome, Dobrava-Belgrade virus type" "" + "obsolete adult T-cell leukemia/lymphoma" "" "true" + "obsolete posterior polar cataract" "" "true" + "obsolete Charcot-Marie-Tooth disease type 1" "" "true" + "obsolete Charcot-Marie-Tooth disease intermediate type" "" "true" + "disorder of methionine catabolism" "An acquired metabolic disease that is has its basis in the disruption of methionine catabolic process." "" + "inborn disorder of methionine cycle and sulfur amino acid metabolism" "An acquired metabolic disease that is has its basis in the disruption of sulfur amino acid metabolic process." "" + "inborn disorder of aspartate family metabolism" "An acquired metabolic disease that is has its basis in the disruption of aspartate family amino acid metabolic process." "" + "obsolete hereditary sensory neuropathy" "" "true" + "obsolete Saldino-Noonan syndrome" "" "true" + "obsolete JMP syndrome" "" "true" + "Ullrich congenital muscular dystrophy" "Ullrich congenital muscular dystrophy (UCMD) is characterized by early-onset, generalized and slowly progressive muscle weakness, multiple proximal joint contractures, marked hypermobility of the distal joints and normal intelligence." "" + "congenital muscular dystrophy" "A muscular dystrophy that is characterized by diminished muscle tone (hypotonia), progressive muscle weakness and degeneration (atrophy), abnormally fixed joints, spinal rigidity, and delays in reaching motor milestones such as sitting or standing unassisted." "" + "obsolete Walker-Warburg syndrome" "" "true" + "obsolete West syndrome" "" "true" + "orofacial cleft" "" + "spondylocostal dysostosis" "Spondylocostal dysplasia is a rare genetic disorder characterized by defects of the bones of the spine (vertebrae) and abnormalities of the ribs. Ribs can be fused or missing in chaotic patterns. These malformations are present at birth (congenital)." "" + "vertebral column disorder" "A disease involving the vertebral column." "" + "dysostosis of genetic origin" "An instance of dysostosis that is caused by a modification of the individual's genome." "" + "obsolete 2-hydroxyglutaric aciduria" "" "true" + "obsolete d-2-hydroxyglutaric aciduria" "" "true" + "obsolete Sensenbrenner syndrome" "" "true" + "gummatous syphilis" "A tertiary syphilis that is characterized by granulomatous lesions, called gummas, which are characterized by a center of necrotic tissue with a rubbery texture. They form in the liver, bones, and testes but may affect any organ." "" + "tertiary syphilis" "A stage of syphilis that occurs fifteen to thirty years after the initial infection; it can include gumma formation and cardiovascular or central nervous system involvement (neurosyphilis)." "" + "obsolete severe congenital neutropenia" "" "true" + "primary congenital glaucoma" "Primary congenital glaucoma (PCG) is characterized by elevated intraocular pressure (IOP), enlargement of the globe (buphthalmos), edema, and opacification of the cornea with rupture of Descemet's membrane (Haab's striae), thinning of the anterior sclera and iris atrophy, anomalously deep anterior chamber, and structurally normal posterior segment except for progressive glaucomatous optic atrophy. Symptoms include photophobia, blepharospasm, and excessive tearing. Typically, the diagnosis is made in the first year of life. Depending on when treatment is instituted, visual acuity may be reduced and/or visual fields may be restricted. In untreated individuals, blindness invariably occurs." "" + "congenital glaucoma" "Congenital glaucoma (CG) is a developmental glaucoma that results from the abnormal development of the aqueous drainage structure, characterized by an elevated intra-ocular pressure, enlargement of globe (buphthalmos), corneal edema and optic nerve cupping, and presenting clinically with the characteristic triad of epiphora, photophobia and blepharospasm." "" + "obsolete glycogen storage disease IX" "" "true" + "intestinal helminthiasis" "A parasitic helminthiasis infectious disease that involves the intestine." "" + "extrapulmonary tuberculosis" "A tuberculosis that occurs at body sites other than the lung." "" + "pulmonary tuberculosis" "A bacterial infection that affects the lungs and is caused by Mycobacterium tuberculosis. Most patients with tuberculosis do not have symptoms (latent tuberculosis) and are not contagious. When signs and symptoms occur (active tuberculosis), patients become contagious. The signs and symptoms include chronic cough with blood-tinged sputum, night sweats, fever, fatigue, and weight loss." "" + "abdominal tuberculosis" "An extrapulmonary tuberculosis that is located in gastrointestinal tract, located in peritoneum, located in omentum, located in mesentery, located in liver, located in spleen or located in pancreas." "" + "abdominal and pelvic region disorder" "A disease or disorder that involves the abdominal segment of trunk." "True" + "obsolete Askin's tumor" "" "true" + "oral cavity carcinoma in situ" "A in situ carcinoma that involves the oral cavity." "" + "in situ carcinoma" "A malignant epithelial neoplasm which is confined to the epithelial layer without evidence of further tissue invasion." "" + "oral cavity carcinoma" "A carcinoma arising in the oral cavity. Most oral cavity carcinomas are squamous cell carcinomas of the tongue, buccal mucosa, or gums. Less frequent morphologic variants include mucoepidermoid carcinoma and adenocarcinoma." "" + "pharynx carcinoma in situ" "Stage 0 carcinoma of the pharynx according to the American Joint Committee on Cancer, 6th, 7th, and 8th editions." "" + "carcinoma of pharynx" "A carcinoma that involves the pharynx." "" + "gall bladder carcinoma in situ" "A carcinoma in situ involving a gall bladder." "" + "gallbladder carcinoma" "A carcinoma that arises from epithelial cells of the gall bladder" "" + "bile duct carcinoma in situ" "A carcinoma in situ involving a bile duct." "" + "liver carcinoma in situ" "A carcinoma in situ involving a liver." "" + "bile duct carcinoma" "A carcinoma that arises from epithelial cells of the bile duct" "" + "bronchus carcinoma in situ" "A carcinoma in situ involving a bronchus." "" + "bronchogenic carcinoma" "A lung carcinoma arising from the bronchial epithelium." "" + "lung carcinoma in situ" "A carcinoma in situ involving a lung." "" + "respiratory system cancer" "A malignant neoplasm involving the respiratory system" "" + "cancer" "A tumor composed of atypical neoplastic, often pleomorphic cells that invade other tissues. Malignant neoplasms often metastasize to distant anatomic sites and may recur after excision. The most common malignant neoplasms are carcinomas (adenocarcinomas or squamous cell carcinomas), Hodgkin and non-Hodgkin lymphomas, leukemias, melanomas, and sarcomas." "" + "malignant Leydig cell tumor" "A Leydig cell tumor characterized by large tumor size, the presence of cytologic atypia, increased mitotic activity, necrosis, and vascular invasion. Approximately 10% of the testicular Leydig cell tumors show malignant characteristics and metastasize. Leydig cell tumors of the ovary follow a benign clinical course." "" + "Leydig cell tumor" "A sex cord-stromal tumor occurring in the testis and rarely in the ovary. It is predominantly or completely composed of Leydig cells which may contain crystals of Reinke. In males it usually presents as a painless testicular enlargement and it may be associated with gynecomastia and decreased libido. The majority of the cases have a benign clinical course. Approximately 10% of the cases have a malignant clinical course and metastasize. In females it may be associated with androgenic manifestations and it follows a benign clinical course." "" + "reproductive system cancer" "A malignant neoplasm involving the reproductive organ" "" + "malignant Sertoli cell tumor" "A Sertoli cell tumor of the testis or the ovary which metastasizes to another anatomic site." "" + "Sertoli cell tumor" "A sex cord-stromal tumor of the testis or the ovary. It is characterized by the presence of Sertoli cells forming tubules. Leydig cells are rare or absent. It may be associated with Peutz-Jeghers syndrome. In males, the presenting symptom is a slow growing testicular mass. Most cases follow a benign clinical course. In females it may present with estrogenic or androgenic manifestations. The vast majority of cases have a benign clinical course." "" + "malignant Sertoli-Leydig cell tumor" "A malignant form of Sertoli-leydig cell tumor." "" + "Sertoli-Leydig cell tumor" "A sex cord-gonadal stromal tumor consists of leydig cells; sertoli cells; and fibroblasts in varying proportions and degree of differentiation. Most such tumors produce androgens in the Leydig cells, formerly known as androblastoma or arrhenoblastoma. Androblastomas occur in the testis or the ovary causing precocious masculinization in the males, and defeminization, or virilization (virilism) in the females. In some cases, the Sertoli cells produce estrogens." "" + "testicular cancer" "A primary or metastatic malignant neoplasm that affects the testis. Representative examples include seminoma, embryonal carcinoma, sarcoma, leukemia, and lymphoma." "" + "paranasal sinus carcinoma" "A malignant epithelial neoplasm arising in the paranasal sinus." "" + "carcinoma" "A malignant tumor arising from epithelial cells. Carcinomas that arise from glandular epithelium are called adenocarcinomas, those that arise from squamous epithelium are called squamous cell carcinomas, and those that arise from transitional epithelium are called transitional cell carcinomas. Morphologically, the malignant epithelial cells may display abnormal mitotic figures, anaplasia, and necrosis. Carcinomas are graded by the degree of cellular differentiation as well, moderately, or poorly differentiated. Carcinomas invade the surrounding tissues and tend to metastasize to other anatomic sites. Lung carcinoma, skin carcinoma, breast carcinoma, colon carcinoma, and prostate carcinoma are the most frequently seen carcinomas." "" + "bone carcinoma" "A carcinoma that involves the bone element." "" + "paranasal sinus cancer" "A primary or metastatic malignant neoplasm involving the paranasal sinuses." "" + "nasal cavity and paranasal sinus carcinoma" "A carcinoma arising from the nasal cavity or paranasal sinuses." "" + "infiltrating renal pelvis transitional cell carcinoma" "A infiltrating urothelial carcinoma that involves the renal pelvis." "" + "infiltrating urothelial carcinoma" "A invasive carcinoma that involves the urothelium." "" + "infiltrating renal pelvis/ureter urothelial carcinoma" "" + "renal pelvis urothelial carcinoma" "A carcinoma that arises from the transitional epithelium of the renal pelvis. It is associated with tobacco use and usually presents with gross or microscopic hematuria. Urothelial carcinomas of the renal pelvis are usually of higher grade and higher stage compared to bladder urothelial carcinomas." "" + "respiratory system benign neoplasm" "A benign neoplasm that involves the respiratory system." "" + "benign neoplasm" "A neoplasm which is characterized by the absence of morphologic features associated with malignancy (severe cytologic atypia, tumor cell necrosis, and high mitotic rate). Benign neoplasms remain confined to the original site of growth and do not metastasize to other anatomic sites." "" + "benign reproductive system neoplasm" "A non-metastasizing neoplasm that arises from the male or female reproductive system. Representative examples include benign prostate phyllodes tumor, benign Sertoli cell tumor, uterine corpus leiomyoma, and benign ovarian serous tumor." "" + "reproductive system neoplasm" "A benign or malignant, primary or metastatic neoplasm affecting the male and female reproductive system." "" + "bladder benign neoplasm" "A benign abnormal growth of the cells that comprise the bladder." "" + "benign urinary system neoplasm" "A non-metastasizing neoplasm that arises from the organs that comprise the urinary system. Representative examples include renal oncocytoma, bladder inverted papilloma, and urothelial papilloma." "" + "urinary bladder neoplasm" "A benign or malignant, primary or metastatic neoplasm of the bladder. - 2003" "" + "benign digestive system neoplasm" "A non-metastasizing neoplasm arising from any part of the digestive system." "" + "digestive system disorder" "A disease or disorder that involves the digestive system." "" + "digestive system neoplasm" "A neoplasm (disease) that involves the digestive system." "" + "digestive system neuroendocrine tumor, grade 1/2" "A well-differentiated neuroendocrine tumor arising from the digestive system. It is characterized by the presence of cells with features similar to those of the normal endocrine cells of the digestive system. The neoplastic cells express immunohistochemical evidence of neuroendocrine differentiation and hormones. There is mild to moderate nuclear atypia and less than 20 mitoses per 10 HPF. It includes well-differentiated endocrine tumors or carcinoid tumors and well-differentiated endocrine carcinomas." "" + "neuroendocrine neoplasm" "Endocrine tumours, also referred to as neuroendocrine tumours (NETs), are defined by a common phenotype which is characterized by the expression of general markers (neuron specific enolase, chromogranin, synaptophysin) and hormone secretion products. These tumours may be localized in any part of the body and are generally discovered in non-specific situations, i.e. not immediately suggestive of NETs (tests for inherited predisposition to tumours or for a clinical syndrome caused by abnormal hormone secretion)." "" + "tumor grade 1 or 2, general grading system" "" + "digestive system neuroendocrine neoplasm" "A neoplasm with neuroendocrine differentiation arising from the digestive system. It includes neuroendocrine tumors (well-differentiated endocrine tumors or carcinoid tumors and well differentiated endocrine carcinomas) and neuroendocrine carcinomas (poorly differentiated neuroendocrine carcinomas, small cell carcinomas, and large cell neuroendocrine carcinomas)." "" + "anemia" "A reduction in the number of red blood cells, the amount of hemoglobin, and/or the volume of packed red blood cells. Clinically, anemia represents a reduction in the oxygen-transporting capacity of a designated volume of blood, resulting from an imbalance between blood loss (through hemorrhage or hemolysis) and blood production. Signs and symptoms of anemia may include pallor of the skin and mucous membranes, shortness of breath, palpitations of the heart, soft systolic murmurs, lethargy, and fatigability." "" + "microcytic anemia" "Anemia in which the red blood cell volume is decreased." "" + "hypochromic anemia" "Anemia caused by the reduction of hemoglobin in relation to the red cell volume. As a result, the red cells have an area of central pallor which is increased in size. The leading cause is iron deficiency." "" + "obsolete anonychia congenita" "" "true" + "atelosteogenesis" "" + "osteochondrodysplasia" "A term referring to disorders characterized by abnormalities in the development of bones and cartilage." "" + "vitelliform macular dystrophy" "A rare genetic disorder characterized by macular degeneration in the retina resulting in progressive loss of central vision with retention of the peripheral vision." "" + "macular degeneration" "Loss of vision in the central portion of the retina (macula), secondary to retinal degeneration." "" + "genetic macular dystrophy" "Macular dystrophy that is related to a change in a gene." "" + "obsolete Bethlem myopathy" "" "true" + "obsolete fetal alcohol syndrome" "" "true" + "partial fetal alcohol syndrome" "A fetal alcohol spectrum disorder that results in most, but not all, of the growth deficiency and/or craniofacial features of fetal alcohol syndrome including central nervous system dysfunction due to prenatal alcohol exposure." "" + "fetal alcohol spectrum disorder" "A group of disorders caused by a prenatal exposure to maternal consumption of alcohol leading to a range of behavioral, cognitive and neurological deficits in the offspring. It is characterized by physical growth problems, distinct facies, and varying psycho-neurological issues." "" + "obsolete alcohol-related neurodevelopmental disorder" "" "true" + "alcohol-related birth defect" "A physical or cognitive mental abnormality caused by maternal alcohol consumption and its toxic effect on the developing embryo during pregnancy." "" + "spastic cerebral palsy" "A form of cerebral palsy wherein spasticity is the exclusive impairment present." "" + "cerebral palsy" "A group of disorders affecting the development of movement and posture, often accompanied by disturbances of sensation, perception, cognition, and behavior. It results from damage to the fetal or infant brain." "" + "ataxic cerebral palsy" "A form of cerebral palsy caused by damage to cerebellar structures." "" + "obsolete female breast cancer" "" "true" + "obsolete dyskinetic cerebral palsy" "" "true" + "mixed cerebral palsy" "A subtype of cerebral palsy characterized by both the tight muscle tone of spastic cerebral palsy and the writhing, involuntary muscle movements of athetoid cerebral palsy." "" + "obsolete congenital bile acid synthesis defect" "" "true" + "small cell carcinoma" "A neuroendocrine carcinoma composed of small malignant cells which are often said to resemble \"oat cells\" under the microscope. Small cell carcinoma most often affects the lungs. Clinically, this is often a rapidly growing cancer that spreads to distant sites early." "" + "neuroendocrine carcinoma" "A malignant neuroendocrine neoplasm composed of cells containing secretory granules that stain positive for NSE and chromogranin. The neoplastic cells are often round and form clusters or trabecular sheets. Representative examples are small cell carcinoma, large cell neuroendocrine carcinoma, and Merkel cell carcinoma." "" + "obsolete organ system cancer" "" "true" + "obsolete cell type cancer" "" "true" + "anal canal cancer" "A malignant neoplasm involving the anal canal" "" + "intestinal cancer" "A malignant neoplasm involving the intestine" "" + "large intestine disorder" "A disease that involves the large intestine." "" + "obsolete Brown-Vialetto-van Laere syndrome" "" "true" + "malignant pleural solitary fibrous tumor" "A malignant form of pleural solitary fibrous tumor." "" + "pleural solitary fibrous tumor" "A localized neoplasm of probable fibroblastic derivation, that arises from the pleura. It is characterized by the presence of round to spindle-shaped cells, hylanized stroma formation, thin-walled branching blood vessels, and thin bands of collagen." "" + "pleural cancer" "A primary or metastatic malignant neoplasm affecting the pleura. A representative example of primary malignant pleural neoplasm is the malignant pleural mesothelioma. A representative example of metastatic malignant neoplasm to the pleura is metastatic carcinoma that has spread to the pleura from another anatomic site." "" + "specific developmental disorder" "A developmental disorder of mental health that categorizes specific learning disabilities and developmental disorders affecting coordination." "" + "alcohol-induced mental disorder" "" + "alcohol-induced disorders" "Disorders stemming from the misuse and abuse of alcohol." "" + "chorioamnionitis" "A morphologic finding indicating inflammation of the fetal sac membranes. It is characterized by neutrophilic infiltration of the amnion and chorion." "" + "inflammatory disease" "A disease involving a pathogenic inflammatory response in the anatomical structure." "" + "disorder of extraembryonic membrane" "A disease or disorder that involves the extraembryonic membrane." "" + "funisitis" "An acute inflammation of the umbilical cord. It is characterized by the presence of polymorphonuclear cells migrating from the fetal umbilical cord vessels through the umbilical cord towards the bacteria containing amniotic fluid." "" + "omphalitis" "Inflammation of the umbilical cord stump in newborns." "" + "pregnancy disorder" "A disorder that is related to pregnancy. Representative examples include ectopic pregnancy, toxemia of pregnancy, and gestational trophoblastic tumor." "" + "connective tissue disorder" "A disease involving the connective tissue." "" + "electroclinical syndrome" "An epilepsy syndrome that is a group of clinical entities showing a cluster of electro-clinical characteristics, classified according to age at onset, cognitive and developmental antecedents and consequences, motor and sensory examinations, EEG features, provoking or triggering factors, and patterns of seizure occurrence with respect to sleep." "" + "epilepsy" "A brain disorder characterized by episodes of abnormally increased neuronal discharge resulting in transient episodes of sensory or motor neurological dysfunction, or psychic dysfunction. These episodes may or may not be associated with loss of consciousness or convulsions." "" + "neonatal period electroclinical syndrome" "An electroclinical syndrome with onset in the neonatal period less than 44 weeks of gestational age." "" + "infancy electroclinical syndrome" "An electroclinical syndrome with onset in infancy occurring between birth and one year of age." "" + "childhood electroclinical syndrome" "A electroclinical syndrome that occurs during childhood." "" + "adolescence-adult electroclinical syndrome" "An electroclinical syndrome with onset in adolescence and adulthood." "" + "obsolete variable age at onset electroclinical syndrome" "" "true" + "early onset absence epilepsy" "A childhood electroclinical syndrome characterized by the occurrence of typical absence seizures starting between the age of four and ten years." "" + "obsolete Ohtahara syndrome" "" "true" + "obsolete 3-Methylcrotonyl-CoA carboxylase deficiency" "" "true" + "obsolete cerebral folate receptor alpha deficiency" "" "true" + "inborn serine deficiency" "An acquired metabolic disease that is has its basis in the disruption of L-serine biosynthetic process." "" + "inborn disorder of serine family metabolism" "An acquired metabolic disease that is has its basis in the disruption of serine family amino acid metabolic process." "" + "obsolete inborn glycogen metabolism disorder" "" "true" + "obsolete coenzyme Q10 deficiency disease" "" "true" + "inborn vitamin B12 deficiency" "Low serum levels of vitamin B12 (cobalamin) due to poor intestinal absorption, decreased dietary intake, or increased physiologic requirement." "" + "inborn vitamin metabolic disorder" "An acquired metabolic disease that is has its basis in the disruption of vitamin metabolic process." "" + "vitamin B12 deficiency" "A disease characterized by low serum levels of vitamin B12, either inherited or acquired." "" + "X-linked disease" "X-linked form of disease." "" + "sex-linked disease" "" + "autosomal dominant disease" "Autosomal dominant form of disease." "" + "autosomal genetic disease" "A monogenic disease that is has material basis in a mutation in a single gene on one of the non-sex chromosomes." "" + "obsolete autosomal recessive disease" "" "true" + "Y-linked disease" "Y-linked form of disease." "" + "mature T-cell and NK-cell non-Hodgkin lymphoma" "This type of lymphoma is not frequently seen in the western hemisphere. Clinically, with the exception of anaplastic large cell lymphoma, mature T- and NK-cell lymphomas are among the most aggressive of all hematopoietic neoplasms. Representative disease entities include mycosis fungoides, angioimmunoblastic T-cell lymphoma, hepatosplenic T-cell lymphoma, and anaplastic large cell lymphoma." "" + "neoplasm of mature T-cells or NK-cells" "A group of neoplasms composed of T-lymphocytes with a mature (peripheral/post-thymic) immunophenotypic profile and/or NK-cells." "" + "T-cell non-Hodgkin lymphoma" "A non-Hodgkin lymphoma of T-cell lineage. It includes the T lymphoblastic lymphoma and the mature T- and NK-cell lymphomas. -- 2003" "" + "obsolete mantle cell lymphoma" "" "true" + "lymphoplasmacytic lymphoma" "A clonal neoplasm of small B-lymphocytes, lymphoplasmacytoid cells, and plasma cells involving the bone marrow, lymph nodes, and the spleen. The majority of patients have a serum IgM paraprotein." "" + "B-cell neoplasm" "A group of heterogeneous lymphoid tumors generally expressing one or more B-cell antigens or representing malignant transformations of B-lymphocytes." "" + "obsolete marginal zone B-cell lymphoma" "" "true" + "obsolete peripheral T-cell lymphoma" "" "true" + "obsolete splenic marginal zone lymphoma" "" "true" + "obsolete T-cell large granular lymphocyte leukemia" "" "true" + "cerebellar ataxia" "A neurological syndrome characterised by clumsy and unco-ordinated movement of the limbs, trunk, and cranial muscles. It results from pathology in the cerebellum and its connections, or in the proprioceptive sensory pathways." "" + "atactic disorder" "A central nervous system disease that consists of gait impairment, unclear (“scanning”) speech, visual blurring due to nystagmus, hand incoordination, and tremor with movement." "" + "cerebellar disorder" "Diseases that affect the structure or function of the cerebellum. Cardinal manifestations of cerebellar dysfunction include dysmetria, gait ataxia, and muscle hypotonia." "" + "movement disorder" "Neurological conditions resulting in abnormal voluntary or involuntary movement, which may impact the speed, fluency, quality and ease of movement." "" + "obsolete ataxia with oculomotor apraxia type 2" "" "true" + "obsolete batten disease" "" "true" + "metabolic acidosis" "" + "acidosis disorder" "An abnormally high acidity of the blood and other body tissues. Acidosis can be either respiratory or metabolic." "" + "lactic acidosis" "Metabolic acidosis characterized by the accumulation of lactate in the body. It is caused by tissue hypoxia." "" + "obsolete X-linked myopathy with excessive autophagy" "" "true" + "obsolete paramyloidosis" "" "true" + "obsolete adenylosuccinase lyase deficiency" "" "true" + "obsolete ARC syndrome" "" "true" + "obsolete neuroacanthocytosis" "" "true" + "midface dysplasia" "" + "autosomal dominant polycystic liver disease" "An autosomal dominant inherited condition characterized by many cysts of various sizes scattered throughout the liver." "" + "paraganglioma" "A benign or malignant neoplasm arising from paraganglia located along the sympathetic or parasympathetic nerves. Infrequently, it may arise outside the usual distribution of the sympathetic and parasympathetic paraganglia. Tumors arising from the adrenal gland medulla are called pheochromocytomas. Morphologically, paragangliomas usually display a nesting (Zellballen) growth pattern. There are no reliable morphologic criteria to distinguish between benign and malignant paragangliomas. The only definitive indicator of malignancy is the presence of regional or distant metastases." "" + "autonomic nervous system neoplasm" "Benign and malignant neoplasms which arise from or directly involve the central or peripheral elements of the autonomic nervous system." "" + "neurocristopathy" "That disease that arises from defects in the development of tissues containing cells commonly derived from the embryonic neural crest cell lineage." "" + "inherited neuroendocrine tumor" "An instance of neuroendocrine neoplasm that is caused by an inherited modification of the individual's genome." "" + "obsolete Opitz-GBBB syndrome" "" "true" + "secondary progressive multiple sclerosis" "A multiple sclerosis with a clinical course characterized by a progressive accumulation of neurological disability, independent of relapses, following an initial relapsing-remitting (RR) phase." "" + "chronic progressive multiple sclerosis" "A form of multiple sclerosis characterized by a progressive deterioration in neurologic function which is in contrast to the more typical relapsing remitting form. If the clinical course is free of distinct remissions, it is referred to as primary progressive multiple sclerosis. When the progressive decline is punctuated by acute exacerbations, it is referred to as progressive relapsing multiple sclerosis. The term secondary progressive multiple sclerosis is used when relapsing remitting multiple sclerosis evolves into the chronic progressive form. (From Ann Neurol 1994;36 Suppl:S73-S79; Adams et al., Principles of Neurology, 6th ed, pp903-914)" "" + "primary progressive multiple sclerosis" "A multiple sclerosis that is characterized by steady worsening of neurologic functioning, without any distinct relapses or periods of remission. The rate of progression may vary over time, with occasional plateaus or temporary improvements, but the progression is continuous." "" + "progressive relapsing multiple sclerosis" "A multiple sclerosis that is characterized by steadily worsening symptoms and attacks during periods of remission with disease progression from the onset." "" + "short QT syndrome" "A genetic disease of the electrical system of the heart that consists of a constellation of signs and symptoms, consisting of a short QT interval on an EKG (< 300 ms) that does not significantly change with heart rate, tall and peaked T waves, and a structurally normal heart. Short QT syndrome appears to be inherited in an autosomal dominant pattern, and a few affected families have been identified" "" + "heart conduction disease" "A disease that has its basis in the disruption of the heart's electrical conduction system." "" + "obsolete multiple synostoses syndrome" "" "true" + "cone dystrophy" "An inherited ocular disorder characterized by the loss of cone cells, the photoreceptors responsible for both central and color vision." "" + "cerebral creatine deficiency syndrome" "Creatine deficiency syndrome (CDS) comprises a group of inborn errors of creatine metabolism, characterized by a global developmental delay, intellectual disability and associated neurological (seizures, movement disorders, myopathy) and behavioral manifestions. CDS includes two creatine biosynthesis disorders; guanidinoacetate methyltransferase deficiency and L- Arginine: glycine amidinotransferase deficiency, as well as X-linked creatine transporter deficiency." "" + "inherited amino acid metabolic disorder" "An inherited disorder that affects the metabolism of the amino acids. Representative examples include alkaptonuria, homocystinuria, tyrosinemia, and phenylketonuria." "" + "cerebral organic aciduria" "A inherited organic acidemia that involves the brain." "" + "inborn disorder of energy metabolism" "An acquired metabolic disease that is has its basis in the disruption of generation of precursor metabolites and energy." "" + "classical glioblastoma" "A molecular subtype of glioblastoma characterized by lack of p53 mutations, chromosome 7 amplifications or deletions, and high levels of EGFR amplification." "" + "glioblastoma" "The most malignant astrocytic tumor (WHO grade IV). It is composed of poorly differentiated neoplastic astrocytes and it is characterized by the presence of cellular polymorphism, nuclear atypia, brisk mitotic activity, vascular thrombosis, microvascular proliferation and necrosis. It typically affects adults and is preferentially located in the cerebral hemispheres. It may develop from diffuse astrocytoma WHO grade II or anaplastic astrocytoma (secondary glioblastoma, IDH-mutant), but more frequently, it manifests after a short clinical history de novo, without evidence of a less malignant precursor lesion (primary glioblastoma, IDH- wildtype). (Adapted from WHO)" "" + "proneural glioblastoma" "A molecular subtype of glioblastoma that is associated with younger age at presentation and is characterized by p53 mutations and PDGFRa amplifications." "" + "mesenchymal glioblastoma" "A molecular subtype of glioblastoma characterized by the presence of NF1 mutations." "" + "neural glioblastoma" "A molecular subtype of glioblastoma characterized by the expression of the neural markers NEFL, GABRA1, SYT1, and SLC12A5." "" + "nutritional biotin deficiency" "" + "biotin metabolic disease" "A deficiency in biotin through either inherited or acquired causes." "" + "vitamin deficiency disorder" "A disorder that is caused by the deficiency of a vitamin. The deficiency may result from either suboptimal vitamin intake or conditions that prevent the vitamin's use or absorption in the body. Representative examples include beriberi caused by thiamine deficiency, scurvy caused by vitamin C deficiency, and rickets caused by vitamin D deficiency." "" + "eye adnexa disorder" "A disease involving the ocular adnexa." "" + "disorder of orbital region" "A disease that involves the orbital region." "" + "Ochoa syndrome" "Ochoa syndrome is characterized by the association of severe voiding dysfunction and a characteristic facial expression." "" + "syndromic renal or urinary tract malformation" "A renal or urinary tract malformation that is part of a larger syndrome." "" + "obsolete Stargardt disease" "" "true" + "atrioventricular block" "A heart block that is initiated in the atrioventricular node." "" + "atrioventricular dissociation" "Impaired conduction of cardiac impulse that can occur anywhere along the conduction pathway, such as between the sinoatrial node and the right atrium (sa block) or between atria and ventricles (av block). Heart blocks can be classified by the duration, frequency, or completeness of conduction block. Reversibility depends on the degree of structural or functional defects." "" + "first-degree atrioventricular block" "A disorder characterized by an electrocardiographic finding of prolonged PR interval for a specific population. For adults one common threshold is a PR interval greater than 0.20 seconds." "" + "genetic cardiac rhythm disease" "An instance of cardiac rhythm disease that is caused by a modification of the individual's genome." "" + "second-degree atrioventricular block" "Intermittent failure of atrial electrical impulse conduction to the ventricles." "" + "third-degree atrioventricular block" "A disorder characterized by an electrocardiographic finding of complete failure of atrial electrical impulse conduction to the ventricles. This is manifested on the ECG by disassociation of atrial and ventricular rhythms. The atrial rate must be faster than the ventricular rate. (CDISC)" "" + "sinoatrial node disorder" "A disease involving the sinoatrial node." "" + "conduction system disorder" "A disease involving the conducting system of heart." "" + "endocardium disorder" "A disease involving the endocardium." "" + "heart disorder" "A disease involving the heart and/or pericardium." "" + "tricuspid valve disorder" "A disease involving the tricuspid valve." "" + "heart valve disorder" "A disease involving the cardial valve." "" + "obsolete rheumatic heart disease" "" "true" + "arterial disorder" "An impairment of the structure or function of the blood vessels which carry blood away from the heart." "" + "vascular disorder" "A general term used to describe any disease affecting blood vessels]. It includes vascular abnormalities caused by degenerative, metabolic and inflammatory conditions, embolic diseases, coagulative disorders, and functional disorders such as posteri or reversible encephalopathy syndrome." "" + "pericardium disorder" "A disease involving the pericardium." "" + "obsolete pyrimidine metabolic disorder" "" "true" + "generalized dystonia" "" + "dystonic disorder" "A movement disorder characterized by sustained or intermittent muscle contractions, resulting in abnormal movements and/or postures." "" + "focal dystonia" "A dystonia that is localized to a specific part of the body." "" + "multifocal dystonia" "A dystonia that involves two or more unrelated body parts." "" + "segmental dystonia" "A dystonia that affects two or more adjacent parts of the body." "" + "anismus" "A focal dystonia of the pelvic floor muscles during attempted defecation." "" + "skeletal muscle disorder" "A disease involving the skeletal muscle tissue." "" + "cervical dystonia" "Cervical dystonia is a neurological condition characterized by excessive pulling of the muscles of the neck and shoulder resulting in abnormal movements of the head (dystonia).Most commonly, the head turns to one side or the other.Tilting sideways, or to the back or front may also occur.The turning or tilting movements may be accompanied by shaking movement (tremor) and/or soreness of the muscles of the neck and shoulders.Cervical dystonia can occur at any age, but most cases occur in middle age. It often begins slowly and usually reaches a plateau over a few months or years. The cause of cervical dystonia is often unknown. In some cases there is a family history. Several genes have been associated with cervical dystonia, including GNAL, THAP1, CIZ1, and ANO3. Other cases may be linked to an underlying disease (e.g. Parkinson disease), neck trauma, or certain medications. Treatment may include local injections of botulinum toxin, pain medications, benzodiazepines (anti-anxiety medications), anticholinergics,physical therapy, or surgery." "" + "focal hand dystonia" "A focal dystonia that affects a single muscle or small group of muscles in the hand resulting from involuntary muscular contractions." "" + "oculogyric crisis" "A focal dystonia that is characterized by a prolonged involuntary upward deviation of the eyes." "" + "obsolete oromandibular dystonia" "" "true" + "spasmodic dystonia" "A chronic voice disorder characterized by momentary periods of uncontrolled spasms of the muscles of the larynx." "" + "laryngeal disorder" "A non-neoplastic or neoplastic disorder that affects the larynx. Representative examples include laryngitis, vocal cord polyp, squamous papilloma, and carcinoma." "" + "craniofacial dystonia" "A focal dystonia that is characterized as dystonia that affects the muscles of the head, face, and neck." "" + "hemidystonia" "A multifocal dystonia that involves the arm and leg on the same side of the body." "" + "periampullary adenoma" "A adenoma that involves the periampullary region of duodenum." "" + "adenoma" "A neoplasm arising from the epithelium. It may be encapsulated or non-encapsulated but non-invasive. The neoplastic epithelial cells may or may not display cellular atypia or dysplasia. In the gastrointestinal tract, when dysplasia becomes severe it is sometimes called carcinoma in situ. Representative examples are pituitary gland adenoma, follicular adenoma of the thyroid gland, and adenomas (or adenomatous polyps) of the gastrointestinal tract." "" + "adenoma of small intestine" "A adenoma that involves the small intestine." "" + "tumor of duodenum" "A neoplasm (disease) that involves the duodenum." "" + "ampulla of vater neoplasm" "A benign or malignant neoplasm involving the ampulla of Vater." "" + "diabetic encephalopathy" "A brain disease that is characterized by functional impairment of cognition, cerebral signal conduction, neurotransmission and synaptic plasticity, and underlying structural pathology associated with diabetes." "" + "diabetes mellitus" "A metabolic disorder characterized by abnormally high blood sugar levels due to diminished production of insulin or insulin resistance/desensitization." "" + "glomerulosclerosis" "A hardening of the kidney glomerulus caused by scarring of the blood vessels." "" + "glomerular disorder" "A disease involving the renal glomerulus." "" + "kidney failure" "An acute or chronic condition that is characterized by the inability of the kidneys to adequately filter the blood." "" + "limb ischemia" "A ischemia that involves the limb." "" + "ischemic disease" "Lack of blood supply to an area of the body, resulting in impairment of tissue oxygenation." "" + "limb disorder" "A disease or disorder that involves the limb." "True" + "chronic venous insufficiency" "Chronic form of venous insufficiency (disease)." "" + "venous insufficiency" "Impaired venous blood flow or venous return (venous stasis), usually caused by inadequate venous valves. Venous insufficiency often occurs in the legs, and is associated with edema and sometimes with venous stasis ulcers at the ankle." "" + "obsolete Muckle-Wells syndrome" "" "true" + "renal fibrosis" "A final common manifestation of a wide variety of chronic kidney diseases characterized by glomerulosclerosis and tubulointerstitial fibrosis." "" + "oppositional defiant disorder" "A behavior disorder characterized by a persistent pattern of defiant, disobedient, and hostile behavior towards authority figures, manifested by a frequent loss of temper, arguing, becoming angry or vindictive, or other negativistic behaviors." "" + "hemorrhagic cystitis" "Inflammation of the bladder resulting in bloody urine." "" + "cystitis" "Inflammation of the urinary bladder." "" + "pyometritis" "Inflammation of uterine musculature associated with pus in the uterine cavity." "" + "uterine disorder" "A non-neoplastic or neoplastic disorder that affects the uterine corpus or the cervix. Representative examples of non-neoplastic disorders include endometritis and cervicitis. Representative examples of neoplastic disorders include endometrial carcinoma, carcinosarcoma, and cervical carcinoma." "" + "arteritic anterior ischemic optic neuropathy" "An anterior ischemic neuropathy that is the cause of vision loss that occurs in temporal arteritis (aka giant cell arteritis)" "" + "anterior ischemic optic neuropathy" "Anterior ischemic optic neuropathy (AION) is an eye disease characterized by infarction of the optic disk leading to vision loss. It can be nonarteritic (nonarteritic anterior ischemic optic neuropathy or NAION) or arteritic, the latter being associated with giant cell arteritis (GCA; often termed temporal arteritis). Vision loss with both varieties is typically rapid (over minutes, hours, or days) and painless. Symptoms such as a general feeling of being unwell (malaise), muscle aches and pains, headaches over the temple, pain when combing hair, pain in the jaw after chewing, and tenderness over the temporal artery (one of the major arteries of the head) may be present with giant cell arteritis. At exam, visual acuity is reduced and the optic disc is swollen. In both subtypes, visual field examination is often reduced in the inferior and central visual fields. The visual loss is usually permanent, with some recovery possibly occurring within the first weeks or months. The arteritic variety is treated with corticosteroids. Treatment of the nonarteritic variety withaspirinor corticosteroids has not been helpful." "" + "temporal arteritis" "Giant cell arteritis (GCA) is a large vessel vasculitis predominantly involving the arteries originating from the aortic arch and especially the extracranial branches of the carotid arteries." "" + "non-arteritic anterior ischemic optic neuropathy" "" + "tongue squamous cell carcinoma" "A squamous cell carcinoma that arises from the tongue. It usually presents as a painful ulcerated or nodular lesion. The size of the tumor and the status of the lymph nodes are the most important factors that determine prognosis." "" + "squamous cell carcinoma" "A carcinoma arising from squamous epithelial cells. Morphologically, it is characterized by the proliferation of atypical, often pleomorphic squamous cells. Squamous cell carcinomas are graded by the degree of cellular differentiation as well, moderately, or poorly differentiated. Well differentiated carcinomas are usually associated with keratin production and the presence of intercellular bridges between adjacent cells. Representative examples are lung squamous cell carcinoma, skin squamous cell carcinoma, and cervical squamous cell carcinoma." "" + "tongue cancer" "A malignant neoplasm affecting the tongue. The vast majority of cases are carcinomas." "" + "oral cavity squamous cell carcinoma" "A squamous cell carcinoma arising from the oral cavity. It affects predominantly adults in their fifth and sixth decades of life and is associated with alcohol and tobacco use. Human papillomavirus is present in approximately half of the cases. It is characterized by a tendency to metastasize early to the lymph nodes. When the tumor is small, patients are often asymptomatic. Physical examination may reveal erythematous or white lesions or plaques. The majority of patients present with signs and symptoms of locally advanced disease including mucosal ulceration, pain, difficulty with speaking, chewing, and swallowing, bleeding, weight loss, and neck swelling. Patients may also present with swollen neck lymph nodes without any symptoms from the oropharyngeal tumor. The most significant prognostic factors are the size of the tumor and the lymph nodes status." "" + "obsolete Jensen syndrome" "" "true" + "villous adenoma" "An epithelial neoplasm morphologically characterized by the presence of a villous architectural pattern. Most often it occurs in the large intestine, small intestine, and the stomach in which the neoplastic epithelial cells show dysplastic features. It may also arise in the urinary bladder, urethra, and vagina." "" + "glandular cell neoplasm" "" + "lung adenocarcinoma in situ" "A localized non-invasive adenocarcinoma of the lung measuring 3 cm or less. It is characterized by a pure lepidic growth pattern and the lack of stromal, vascular, or pleural invasion." "" + "adenocarcinoma in situ" "A lesion in which the normally situated glands are partially or completely replaced by atypical cells with malignant characteristics." "" + "lung adenocarcinoma" "A carcinoma that arises from the lung and is characterized by the presence of malignant glandular epithelial cells. There is a male predilection with a male to female ratio of 2:1. Usually lung adenocarcinoma is asymptomatic and is identified through screening studies or as an incidental radiologic finding. If clinical symptoms are present they include shortness of breath, cough, hemoptysis, chest pain, and fever. Tobacco smoke is a known risk factor." "" + "obsolete follicular lymphoma" "" "true" + "obsolete small cell neuroendocrine carcinoma" "" "true" + "obsolete Caroli disease" "" "true" + "inclusion body myopathy with Paget disease of bone and frontotemporal dementia" "Inclusion body myopathy with Paget disease of bone and frontotemporal dementia (IBMPFD) is a multisystem degenerative genetic disorder characterized by adult-onset proximal and distal muscle weakness (clinically resembling limb-girdle muscular dystrophy); early-onset Paget disease of bone, manifesting with bone pain, deformity and enlargement of the long-bones; and premature frontotemporal dementia, manifesting first with dysnomia, dyscalculia and comprehension deficits followed by progressive aphasia, alexia, and agraphia. As the disease progresses, muscle weakness begins to affect the other limbs and respiratory muscles, ultimately resulting in respiratory or cardiac failure." "" + "syndromic disease" "A group of signs, symptoms, and clinicopathological characteristics that may or may not have a genetic basis and collectively define an abnormal condition." "" + "inclusion myopathy" "" + "frontotemporal dementia" "Frontotemporal dementia (FTD) comprises a group of neurodegenerative disorders, characterized by progressive changes in behavior, executive dysfunction and language impairment, as a result of degeneration of the medial prefrontal and frontoinsular cortices. Four clinical subtypes have been identified: semantic dementia, progressive non-fluent aphasia, behavioral variant FTD and right temporal lobar atrophy." "" + "primary bone dysplasia with disorganized development of skeletal components" "True" + "intellectual disability" "A broad category of disorders characterized by an impairment to the intelligence an individual possesses. These impairments can result from trauma, birth, or disease and are not restricted to any particular age group." "" + "has a syndromic presentation" "An characteristic of a disease in which the disease is not manifested as an isolated feature but has multiple distinct features." "" + "non-syndromic intellectual disability" "An intellectual disability that is not part of a larger syndrome." "" + "synucleinopathy" "A neurodegenerative disease that is characterized by the abnormal accumulation of aggregates of alpha-synuclein protein in neurons, nerve fibres or glial cells. [url:http://en.wikipedia.org/wiki/Synucleinopathies ]" "" + "neurodegenerative disease" "A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." "" + "obsolete gallbladder adenoma" "" "true" + "obsolete ameloblastoma" "" "true" + "bone ameloblastoma" "A ameloblastoma that involves the bone tissue." "" + "ameloblastoma" "The most common odontogenic tumor, arising from the epithelial component of the embryonic tooth and usually affecting the molar-ramus region of the mandible or maxilla. Although most ameloblastomas are morphologically and clinically benign, they may cause extensive local destruction, recur, or metastasize." "" + "bone benign neoplasm" "A neoplasm that arises from the bone or articular cartilage and does not invade adjacent tissues or metastasize to other anatomic sites." "" + "bone squamous cell carcinoma" "A squamous cell carcinoma that involves the bone tissue." "" + "bone chondrosarcoma" "A chondrosarcoma (disease) that involves the bone tissue." "" + "chondrosarcoma" "A malignant cartilaginous matrix-producing mesenchymal neoplasm arising from the bone and soft tissue. It usually affects middle-aged to elderly adults. The pelvic bones, ribs, shoulder girdle, and long bones are the most common sites of involvement. Most chondrosarcomas arise de novo, but some may develop in a preexisting benign cartilaginous lesion." "" + "bone cancer" "A primary or metastatic malignant neoplasm affecting the bone or articular cartilage." "" + "phalanx chondroma" "A chondroma that involves the phalanx." "" + "chondroma" "A benign well circumscribed neoplasm of hyaline cartilage arising from bone or soft tissue. It is characterized by the presence of chondrocytes." "" + "brain stem medulloblastoma" "A medulloblastoma that involves the brainstem." "" + "medulloblastoma" "A malignant, invasive embryonal neoplasm arising from the cerebellum. It occurs predominantly in children and has the tendency to metastasize via the cerebrospinal fluid pathways. Signs and symptoms include truncal ataxia, disturbed gait, lethargy, headache, and vomiting. There are four histologic variants: classic medulloblastoma, large cell/anaplastic medulloblastoma, desmoplastic/nodular medulloblastoma, and medulloblastoma with extensive nodularity." "" + "brainstem neoplasm" "A neoplasm (disease) that involves the brainstem." "" + "brainstem cancer" "A primary or metastatic malignant neoplasm that affects the brain stem." "" + "sacrum chordoma" "A chordoma (disease) that involves the fused sacrum." "" + "chordoma" "Chordomas are rare malignant tumors arising from embryonic remnants of the notochord in axial skeleton." "" + "spinal chordoma" "A slow-growing malignant bone tumor arising from the remnants of the notochord and occurring in the spine. It is characterized by a lobulated growth pattern, myxoid stroma formation, and the presence of physaliphorous cells." "" + "corpus callosum oligodendroglioma" "A oligodendroglioma that involves the corpus callosum." "" + "oligodendroglioma" "A well-differentiated (WHO grade II), diffusely infiltrating neuroglial tumor, typically located in the cerebral hemispheres. It is composed predominantly of cells which morphologically resemble oligodendroglia. The neoplastic cells have rounded homogeneous nuclei and, on paraffin sections, a swollen, clear cytoplasm ('honeycomb' appearance). (Adapted from WHO)" "" + "brain oligodendroglioma" "A oligodendroglioma that involves the brain." "" + "cerebral hemisphere cancer" "A cancer that involves the cerebral hemisphere." "" + "parietal lobe ependymal tumor" "An ependymal tumor affecting the parietal lobe of the brain." "" + "ependymal tumor" "A group of neoplasms which arise from the ependymal lining of the cerebral ventricles and from the remnants of the central canal of the spinal cord. Ependymal tumors occur predominantly in children and young adults with varied morphological features and biological behavior. There are 4 types: ependymoma, anaplastic ependymoma, myxopapillary ependymoma and subependymoma. (WHO)" "" + "parietal lobe cancer" "A malignant neoplasm involving the parietal lobe" "" + "ependymal tumor of brain" "A tumor arising from the ependymal lining of the ventricles." "" + "salivary gland carcinoma" "A carcinoma that arises from the major or minor salivary glands. Representative examples include carcinoma ex pleomorphic adenoma, adenocarcinoma, adenoid cystic carcinoma, and mucoepidermoid carcinoma." "" + "salivary gland cancer" "A primary or metastatic malignant neoplasm that affects the major or minor salivary glands. Representative examples include carcinoma, lymphoma, and sarcoma." "" + "obsolete inflammatory myofibroblastic tumor" "" "true" + "obsolete conjunctival nevus" "" "true" + "mixed extragonadal germ cell cancer" "A mixed germ cell cancer that is located in areas of the body other than the ovary or testicle." "" + "extragonadal germ cell cancer" "A malignant germ cell tumor that develops as a primary tumor in an anatomic site other than the testis or ovary." "" + "mixed germ cell tumor" "A malignant germ cell tumor characterized by the presence of at least two different germ cell components. The different germ cell components include choriocarcinoma, embryonal carcinoma, yolk sac tumor, teratoma, and seminoma. It occurs in the ovary, testis, and extragonadal sites including central nervous system and mediastinum." "" + "cecum villous adenoma" "A neoplasm that arises from the glandular epithelium of the cecal mucosa. It is characterized by a villous architectural pattern. The neoplastic glandular cells have dysplastic features." "" + "cecal neoplasm" "A benign or malignant neoplasm that affects the cecum. Representative examples of benign neoplasms include lipoma and leiomyoma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and sarcoma. Cecal adenomas always exhibit epithelial dysplasia and are considered premalignant neoplasms." "" + "villous adenoma of colon" "A villous adenoma that involves the colon." "" + "obsolete appendix carcinoid tumor" "A carcinoid tumor (disease) that involves the vermiform appendix." "" "true" + "colon adenoma" "An adenoma that arises from the colon. The group of colonic adenomas includes tubular, villous, and tubulovillous adenomas, traditional serrated adenomas, sessile serrated adenomas/polyps, and familial adenomatous polyposis." "" + "colorectal adenoma" "An adenoma that arises from the colon or rectum. The group of colorectal adenomas includes tubular, villous, and tubulovillous adenomas, traditional serrated adenomas, sessile serrated adenomas/polyps, and familial adenomatous polyposis." "" + "epithelial tumor of colon" "A epithelial neoplasm that involves the colon." "" + "benign colon neoplasm" "A non-metastasizing neoplasm arising from the wall of the colon." "" + "" "true" + "colorectal adenocarcinoma" "The most common type of colorectal carcinoma. It is characterized by the presence of malignant glandular epithelial cells invading through the muscularis mucosa into the submucosa. Histologic variants include mucinous adenocarcinoma, signet ring cell carcinoma, medullary carcinoma, serrated adenocarcinoma, cribriform comedo-type adenocarcinoma, and micropapillary adenocarcinoma." "" + "" "true" + "rectum adenoma" "An adenoma that arises from the rectum. The group of rectal adenomas includes tubular, villous, and tubulovillous adenomas, traditional serrated adenomas, sessile serrated adenomas/polyps, and familial adenomatous polyposis." "" + "epithelial neoplasm of rectum" "A epithelial neoplasm that involves the rectum." "" + "bronchus mucoepidermoid carcinoma" "A mucoepidermoid carcinoma that involves the bronchus." "" + "mucoepidermoid carcinoma" "A carcinoma morphologically characterized the presence of cuboidal mucous cells, goblet-like mucous cells, squamoid cells, cystic changes, and a fibrotic stromal formation. It can occur in several anatomic sites, including parotid gland, oral cavity, paranasal sinus, skin, breast, lung, larynx, and lacrimal ducts. It is classified as low or high grade." "" + "pulmonary mucoepidermoid carcinoma" "A lung carcinoma characterized by the presence of malignant non-keratinizing squamoid cells, mucin-producing cells and intermediate type cells." "" + "lung combined type small cell adenocarcinoma" "A lung combined type small cell carcinoma that has material basis in epithelial tissue of glandular origin." "" + "combined small cell lung carcinoma" "A morphologic variant of small cell lung carcinoma in combination with a non-small cell carcinoma." "" + "adenocarcinoma" "A common cancer characterized by the presence of malignant glandular cells. Morphologically, adenocarcinomas are classified according to the growth pattern (e.g., papillary, alveolar) or according to the secreting product (e.g., mucinous, serous). Representative examples of adenocarcinoma are ductal and lobular breast carcinoma, lung adenocarcinoma, renal cell carcinoma, hepatocellular carcinoma (hepatoma), colon adenocarcinoma, and prostate adenocarcinoma." "" + "obsolete vaginal carcinoma" "" "true" + "trachea mucoepidermoid carcinoma" "A mucoepidermoid carcinoma that involves the trachea." "" + "trachea carcinoma" "A carcinoma that arises from epithelial cells of the trachea." "" + "tonsil squamous cell carcinoma" "A squamous cell carcinoma that involves the tonsil." "" + "tonsil carcinoma" "A carcinoma that involves the tonsil." "" + "oropharynx squamous cell carcinoma" "A squamous cell carcinoma that involves the oropharynx." "" + "pharyngeal squamous cell carcinoma" "A squamous cell carcinoma that arises from the pharynx." "" + "pharynx cancer" "A primary or metastatic malignant neoplasm that affects the pharynx." "" + "head and neck squamous cell carcinoma" "A squamous cell carcinoma that arises from any of the following anatomic sites: lip and oral cavity, nasal cavity, paranasal sinuses, pharynx, larynx, and salivary glands." "" + "obsolete gastrointestinal carcinoma" "" "true" + "obsolete spindle epithelial tumor with thymus-like differentiation tumor" "" "true" + "striated muscle rhabdoid tumor" "A rhabdoid tumor that involves the striated muscle tissue." "" + "rhabdoid tumor" "An aggressive malignant embryonal neoplasm usually occurring during childhood. It is characterized by the presence of large cells with abundant cytoplasm, large eccentric nucleus, and a prominent nucleolus and it is associated with abnormalities of chromosome 22. It can arise from the central nervous system, kidney, and the soft tissues. The prognosis is poor." "" + "muscle tissue disorder" "A disease involving the muscle tissue." "" + "muscle cancer" "A malignant neoplasm affecting the skeletal or smooth muscles. Malignant neoplasms arising from the skeletal muscles are called rhabdomyosarcomas. Malignant neoplasms arising from the smooth muscles are called leiomyosarcomas." "" + "small intestinal neuroendocrine tumor G1" "A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the small intestine. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent." "" + "tumor grade 1, general grading system" "A morphologic qualifier indicating that a cancerous lesion is well differentiated." "" + "small intestine neuroendocrine tumor, well differentiated, low or intermediate grade" "A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the small intestine." "" + "intestinal neuroendocrine tumor G1" "A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the small or large intestine. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent." "" + "jejunal adenocarcinoma" "A adenocarcinoma that involves the jejunum." "" + "small intestine adenocarcinoma" "An adenocarcinoma that arises from the small intestine. Histologic variants include mucinous adenocarcinoma and signet ring cell carcinoma." "" + "jejunal cancer" "A malignant neoplasm involving the jejunum." "" + "obsolete duodenum adenoma" "" "true" + "ovarian melanoma" "A melanoma (disease) that involves the ovary." "" + "metastatic melanoma" "A melanoma that has spread from its primary site to another anatomic site. Melanomas frequently metastasize to lymph nodes, liver, lungs, and brain." "" + "ovarian neuroendocrine neoplasm" "An epithelial neoplasm with neuroendocrine differentiation that arises from the ovary. It includes carcinoid tumor, small cell carcinoma pulmonary type, and large cell neuroendocrine carcinoma." "" + "mucosal melanoma" "A melanoma that arises from a mucosal site." "" + "melanoma" "A malignant, usually aggressive tumor composed of atypical, neoplastic melanocytes. Most often, melanomas arise in the skin (cutaneous melanomas) and include the following histologic subtypes: superficial spreading melanoma, nodular melanoma, acral lentiginous melanoma, and lentigo maligna melanoma. Cutaneous melanomas may arise from acquired or congenital melanocytic or dysplastic nevi. Melanomas may also arise in other anatomic sites including the gastrointestinal system, eye, urinary tract, and reproductive system. Melanomas frequently metastasize to lymph nodes, liver, lungs, and brain." "" + "non-cutaneous melanoma" "Melanoma is a malignant tumor of melanocytes, cells that are derived from the neural crest. Although most melanomas arise in the skin, they also may arise from mucosal surfaces or at other sites to which neural crest cells migrate. (PDQ)" "" + "sublingual gland adenoid cystic carcinoma" "A adenoid cystic carcinoma that involves the sublingual gland." "" + "adenoid cystic carcinoma" "A malignant tumor arising from the epithelial cells. Microscopically, the neoplastic epithelial cells form cylindrical spatial configurations (cribriform or classic type of adenoid cystic carcinoma), cordlike structures (tubular type of adenoid cystic carcinoma), or solid structures (basaloid variant of adenoid cystic carcinoma). Adenoid cystic carcinomas mostly occur in the salivary glands. Other primary sites of involvement include the lacrimal gland, the larynx, and the lungs. Adenoid cystic carcinomas spread along nerve sheaths, resulting in severe pain, and they tend to recur. Lymph node metastases are unusual; hematogenous tumor spread is characteristic." "" + "sublingual gland carcinoma" "A carcinoma that arises from the sublingual gland. Representative examples include cystadenocarcinoma and mucoepidermoid carcinoma." "" + "major salivary gland adenoid cystic carcinoma" "An aggressive carcinoma that arises from the major salivary glands. It is characterized by the presence of malignant epithelial and myoepithelial cells forming cribriform, tubular, and solid patterns. It usually presents as a slow growing mass. Patients develop pain because of the tendency of these carcinomas to invade perineural tissues." "" + "obsolete parotid gland adenoid cystic carcinoma" "" "true" + "obsolete ovarian serous carcinoma" "" "true" + "ovarian clear cell cancer" "An invasive malignant neoplasm that arises from the ovary and is characterized by a predominance of clear and hobnail malignant epithelial cells." "" + "malignant epithelial tumor of ovary" "An invasive malignant tumor that originates from the surface epithelium of the ovary. It is composed of malignant epithelial cells and stroma. Representative examples include serous adenocarcinoma, mucinous adenocarcinoma, endometrioid adenocarcinoma, clear cell adenocarcinoma, and malignant Brenner tumor." "" + "ovarian clear cell tumor" "A benign, borderline, or malignant epithelial tumor of the ovary that is characterized by a predominance of clear and hobnail cells." "" + "cervical neuroblastoma" "A relatively uncommon neuroblastoma that is found in the neck." "" + "neuroblastoma" "Neuroblastoma (NB) is the most common solid, extracranial childhood tumor. It is an aggressive pediatric cancer that originates from neural crest tissues of the sympathetic nervous system." "" + "extracranial neuroblastoma" "A neuroblastoma arising from an anatomic site other than the brain." "" + "neoplasm of neck" "A neoplasm (disease) that involves the neck." "" + "extra-adrenal sympathetic paraganglioma" "A benign or malignant sympathetic paraganglioma arising from paraganglia outside the adrenal gland. Clinical symptoms are related to secretion of catecholamines. Representative examples include the superior and inferior paraaortic and bladder paragangliomas." "" + "sympathetic paraganglioma" "A benign or malignant paraganglioma arising from the chromaffin cells of the paraganglia that are located along the sympathetic nerves. It includes extra-adrenal paragangliomas and paragangliomas that arise from the adrenal medulla. The latter are commonly referred to as pheochromocytomas. Representative examples of extra-adrenal sympathetic paragangliomas include the bladder, and superior and inferior paraaortic paragangliomas. Clinical signs are related to the secretion of catecholamines resulting in hypertension." "" + "retroperitoneal neuroblastoma" "A neuroblastoma that involves the retroperitoneal space." "" + "retroperitoneal neoplasm" "A benign or malignant neoplasm that affects the retroperitoneum." "" + "breast lobular carcinoma" "An adenocarcinoma of the breast arising from the lobules. This is a relatively uncommon carcinoma, represents approximately 10% of the breast adenocarcinomas and is often bilateral or multifocal." "" + "breast adenocarcinoma" "A carcinoma that arises from glandular epithelial cells of the breast" "" + "uterine corpus endometrial carcinoma" "A endometrial carcinoma (disease) that involves the body of uterus." "" + "endometrial carcinoma" "A malignant tumor arising from the epithelium that lines the cavity of the uterine body. The vast majority of endometrial carcinomas are adenocarcinomas; squamous cell and adenosquamous carcinomas represent a minority of the cases. Endometrioid adenocarcinoma is the most frequently seen variant of endometrial adenocarcinoma. Uterine bleeding is an initial clinical sign. The prognosis depends on the stage of the tumor, the depth of myometrial wall invasion, and the degree of differentiation." "" + "uterine corpus cancer" "A malignant neoplasm involving the body of uterus." "" + "endocervical adenocarcinoma" "An adenocarcinoma that arises from the endocervix. It is the most common type of endocervical adenocarcinoma. The neoplastic epithelium shows a pseudostratified architecture and the malignant cells have enlarged, elongated, and hyperchromatic nuclei." "" + "endocervical carcinoma" "A carcinoma that arises from epithelial cells of the endocervix." "" + "cervical adenocarcinoma" "An adenocarcinoma arising from the cervical epithelium. It accounts for approximately 15% of invasive cervical carcinomas. Increased numbers of sexual partners and human papillomavirus (HPV) infection are risk factors. Grossly, advanced cervical adenocarcinoma may present as an exophytic mass, an ulcerated lesion, or diffuse cervical enlargement. Microscopically, the majority of cervical adenocarcinomas are of the endocervical (mucinous) type." "" + "obsolete autosomal recessive hypophosphatemic rickets" "" "true" + "obsolete autosomal recessive cerebellar ataxia" "" "true" + "obsolete hereditary ataxia" "" "true" + "obsolete spastic ataxia" "" "true" + "" "true" + "X-linked cerebellar ataxia" "X-linked form of cerebellar ataxia." "" + "obsolete spinocerebellar ataxia type 4" "" "true" + "spinocerebellar ataxia type 16" "An autosomal recessive form of spinocerebellar ataxia caused by mutation(s) in the STUB1 gene, encoding E3 ubiquitin-protein ligase CHIP." "" + "autosomal dominant cerebellar ataxia" "Autosomal dominant cerebellar ataxia (ADCA) describes a clinically and genetically heterogeneous group of neurodegenerative diseases characterized by a slowly progressive ataxia of gait, stance and limbs, dysarthria and/or oculomotor disorder, due to cerebellar degeneration in the absence of coexisting diseases. The degenerative process can be limited to the cerebellum (ADCA type 3) or may additionally involve the retina (ADCA type 2), optic nerve, ponto-medullary systems, basal ganglia, cerebral cortex, spinal tracts or peripheral nerves (ADCA type 1). In ACDA type 4, a cerebellar syndrome is associated with epilepsy." "" + "obsolete hypomyelinating leukoencephalopathy" "" "true" + "GRID2-related autosomal dominant spinocerebellar ataxia" "" + "obsolete cerebellar ataxia, mental retardation and dysequlibrium syndrome" "" "true" + "infective endocarditis" "Infective endocarditis (IE) is an infection of the inner lining of the heart chambers (endocardium) and valves. This condition is sometimes called 'endocarditis,' although it is important to distinguish it from non-infective endocarditis. IE is caused bybacteria, fungi, or other germs invading the bloodstream and attaching to the heart. IE can damagethe heart and cause serious and sometimes fatal complications. It can develop quickly or slowly depending on what type of germ is causing it and whether there is an underlying heart problem. Common symptoms of IE are fever and other flu-like symptoms, but signs and symptoms can vary. It can also cause problems in many other parts of the body besides the heart. IE is typically treated with antibiotics for several weeks; some individuals may need heart surgery to repair or replace heart valves or remove infected heart tissue." "" + "endocarditis" "Inflammation of the endocardium." "" + "obsolete substance withdrawal disorder" "" "true" + "obsolete C1 inhibitor deficiency" "" "true" + "autoimmune disorder of central nervous system" "A hypersensitivity reaction type II disease that involves the central nervous system." "" + "central nervous system disorder" "A disease involving the central nervous system." "" + "autoimmune disorder of the nervous system" "A disorder characterized by the degeneration of the nervous system due to autoimmunity. Representative examples include multiple sclerosis, Guillain-Barre syndrome, and myasthenia gravis." "" + "autoimmune disorder of endocrine system" "A hypersensitivity reaction type II disease that involves the endocrine system." "" + "obsolete severe combined immunodeficiency due to artemis deficiency" "" "true" + "obsolete CD3zeta deficiency" "" "true" + "recombinase activating gene 1 deficiency" "A severe combined immunodeficiency that is the result of a mutation on Chromosome 6 RAG1 gene involving genetic rearrangement of both the T- and B-lymphocyte receptor genes." "" + "severe combined immunodeficiency" "Severe combined immunodeficiency (SCID) comprises a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes resulting in early-onset severe respiratory infections and failure to thrive. They are classified according to immunological phenotype into SCID with absence of T cells but presence of B cells (T-B+ SCID) or SCID with absence of both (T-B- SCID). Both of these groups include several forms, with or without natural killer (NK) cells." "" + "recombinase activating gene 2 deficiency" "A severe combined immunodeficiency that is the result of a mutation on Chromosome 6 RAG2 gene involving genetic rearrangement of both the T- and B-lymphocyte receptor genes." "" + "obsolete CD45 deficiency" "" "true" + "" "true" + "T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency" "A severe combined immunodeficiency that results from defective IL7R expression causes T-B+NK+ SCID. Loss of IL-7R function leads to the loss of an antiapoptotic signal, resulting in a loss of T-cell selection in thymus." "" + "obsolete CD3delta deficiency" "" "true" + "congenital anemia" "Anemia, the cause of which is present at birth." "" + "congenital" "A characteristic of a disease in which the disease is present at birth, regardless of cause." "" + "congenital hematological disorder" "A disorder of the blood that is present at birth." "" + "obsolete CD3gamma deficiency" "" "true" + "obsolete coronin-1A deficiency" "" "true" + "obsolete CD40 ligand deficiency" "" "true" + "obsolete lambda 5 deficiency" "" "true" + "obsolete immunoglobulin alpha deficiency" "" "true" + "immunoglobulin beta deficiency" "" + "B cell deficiency" "A broad classification of disorders where circulating numbers of B lymphocytes are decreased or ineffective. Complement components and the production of antibodies may also be deficient." "" + "B cell linker protein deficiency" "A hypobammaglobulinemia that is a B cell deficiency that has material basis in a mutation in a cytoplasmic linker or adaptor protein that plays a critical role in B cell development, the B cell linker protein (BLNK) gene. Mutations in this gene cause hypoglobulinemia and absent B cells, a disease in which the pro- to pre-B-cell transition is developmentally blocked. The BLNK gene is associated with intracellular calcium mobilization, essential for cell activation." "" + "agammaglobulinemia" "A decreased level of serum immunoglobulins. It may be inherited or acquired. It is caused by decreased or inefficient production of immunoglobulins from B cells or by a decrease in the numbers of B cells themselves. Low levels of immunoglobulins will affect the immune system's ability to combat bacterial infection. Supplementation of immunoglobulins is needed to prevent worsening outcomes." "" + "obsolete Good syndrome" "" "true" + "autoimmune disorder of exocrine system" "A hypersensitivity reaction type II disease that involves the exocrine system." "" + "autoimmune disease of ear, nose and throat" "An autoimmune form of otorhinolaryngologic disease." "" + "otorhinolaryngologic disease" "Pathological processes of the ear, the nose, and the throat, also known as the ENT diseases." "" + "autoimmune disorder of gastrointestinal tract" "A hypersensitivity reaction type II disease that involves the alimentary part of gastrointestinal system." "" + "autoimmune disorder of musculoskeletal system" "A hypersensitivity reaction type II disease that involves the musculoskeletal system." "" + "musculoskeletal system disorder" "A disease involving the musculoskeletal system." "" + "autoimmune disorder of peripheral nervous system" "A hypersensitivity reaction type II disease that involves the peripheral nervous system." "" + "peripheral nervous system disorder" "A disease involving the peripheral nervous system." "" + "intrinsic cardiomyopathy" "A cardiomyopathy that is due to abnormalities in heart muscle cells." "" + "extrinsic cardiomyopathy" "A cardiomyopathy that is not due to abnormalities in heart muscle cells." "" + "developmental disorder of mental health" "A disease of mental health that occur during a child's developmental period between birth and age 18 resulting in retarding of the child's psychological or physical development." "" + "pervasive developmental disorder" "A category of developmental disorders characterized by impaired communication and socialization skills. The impairments are incongruent with the individual's developmental level or mental age. These disorders can be associated with general medical or genetic conditions." "" + "obsolete autoimmune disease of skin and connective tissue" "" "true" + "complex neurodevelopmental disorder" "A disorder that involves more than one phenotype associated with the central nervous system, including but not limited to intellectual disability, autism, and seizures (epilepsy)." "" + "sexual and gender identity disorders" "A category of psychiatric disorders characterized by a disturbance in sexual desire and in the psychophysiological changes that make up the sexual response cycle." "" + "psychiatric disorder" "A disorder characterized by behavioral and/or psychological abnormalities, often accompanied by physical symptoms. The symptoms may cause clinically significant distress or impairment in social and occupational areas of functioning. Representative examples include anxiety disorders, cognitive disorders, mood disorders and schizophrenia." "" + "paraphilic disorder" "Disorders that include recurrent, intense sexually arousing fantasies, sexual urges, or behaviors generally involving nonhuman objects, suffering of oneself or partners, or children or other nonconsenting partners. (from DSM-V)" "" + "psychosexual disorder" "" + "Munchausen by proxy" "A factitious disorder that involves a care giver's deliberate exaggeration, fabrication, and/or induce physical, psychological, behavioral, and/or mental health problems in others." "" + "factitious disorder" "A category of psychiatric disorders which are characterized by physical or psychological symptoms that are intentionally produced in order to assume the sick role; there is no external incentive for the behavior, such as economic gain or avoiding legal responsibility, and the person is unaware of any self-motivating factors." "" + "aphasia" "A language disorder that involves an acquired impairment of any laguage modality such as producting or comprehending spoken or written language." "" + "language disorder" "A category of disorders characterized by an impairment in the development of an individual's language capabilities, which is in contrast to his/her non-verbal intellect." "" + "mutism" "The inability to generate oral-verbal expression, despite normal comprehension of speech. This may be associated with brain diseases or mental disorders. Organic mutism may be associated with damage to the frontal lobe; brain stem; thalamus; and cerebellum. Selective mutism is a psychological condition that usually affects children characterized by continuous refusal to speak in social situations by a child who is able and willing to speak to selected persons. Kussmal aphasia refers to mutism in psychosis." "" + "writing disorder" "A learning disability that involves impaired written language ability such as impairments in handwriting, spelling, organization of ideas, and composition." "" + "learning disability" "A group of disorders that affect a person's ability to learn or process specific types of information which is in contrast to his/her apparent level of intellect." "" + "nosophobia" "A specific phobia that involves an irrational fear of contracting a disease." "" + "specific phobia" "An anxiety disorder characterized by an intense, irrational fear cued by the presence or anticipation of a specific object or situation. Exposure to the phobic stimulus immediately provokes an anxiety response. In adults, the specific phobia is recognized as excessive or unreasonable." "" + "autoimmune disorder of urogenital tract" "A hypersensitivity reaction type II disease that involves the genitourinary system." "" + "disorder of genitourinary system" "A disease that involves the genitourinary system." "" + "autoimmune disorder of blood" "A hypersensitivity reaction type II disease that involves the blood." "" + "hematologic disorder" "A disease involving the hematopoietic system." "" + "autoimmune disorder of cardiovascular system" "A hypersensitivity reaction type II disease that involves the cardiovascular system." "" + "cardiovascular disorder" "A disease involving the cardiovascular system." "" + "obsolete autonomic peripheral neuropathy" "" "true" + "hypersensitivity reaction disease" "An immune system disease that has basis in dysregulation of the hypersensitivity reaction, an inflammatory response to an exogenous environmental antigen or an endogenous antigen initiated by the adaptive immune system." "" + "immune system disorder" "A disorder resulting from an abnormality in the immune system." "" + "obsolete gluten allergy" "A allergy involving gluten." "" "true" + "primary cutaneous T-cell non-Hodgkin lymphoma" "A T-cell non-Hodgkin lymphoma arising from the skin. Representative examples include mycosis fungoides and primary cutaneous anaplastic large cell lymphoma." "" + "primary cutaneous lymphoma" "Cutaneous lymphoma is a heterogeneous entity with respect to its clinical and pathological features, evolutive profile, prognosis, molecular aetiology and response to therapy. These specifications have been taken into account in recent classifications, which have placed particular importance on the prognostic implications of these different entities." "" + "familial juvenile hyperuricemic nephropathy" "" + "kidney disorder" "A disease involving the kidney." "" + "obsolete sideroblastic anemia with spinocerebellar ataxia" "" "true" + "marantic endocarditis" "Formation of a non-infectious thrombus, referred to as vegetation, on previously undamaged endocardium. It usually occurs as a complication of connective-tissue diseases and cancers because of the associated hypercoagulable state (see thrombophilia)." "" + "thrombotic disease" "The formation of a blood clot in the lumen of a vessel or heart chamber; causes include coagulation disorders and vascular endothelial injury." "" + "blood coagulation disease" "A condition in which there is a deviation from or interruption of the normal coagulation properties of the blood." "" + "pre-malignant neoplasm" "A disease of cellular proliferation that results in abnormal growths in the body, which do not invade or destroy the surrounding tissue but, given enough time, will transform into a cancer." "" + "neoplasm" "A benign or malignant tissue growth resulting from uncontrolled cell proliferation. Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia. Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." "" + "precancerous condition" "A pathological process with signs indicating it may become cancerous. Representative examples include leukoplakia, dysplastic nevus, actinic keratosis, xeroderma pigmentosum, and intraepithelial neoplasia." "" + "lymphatic system cancer" "A malignant neoplasm involving the lymphatic part of lymphoid system" "" + "immune system cancer" "A malignant neoplasm involving the immune system" "" + "lymphatic system disorder" "A disease involving the lymphatic part of lymphoid system." "" + "obsolete estrogen-receptor positive breast cancer" "" "true" + "obsolete estrogen-receptor negative breast cancer" "" "true" + "progesterone-receptor positive breast cancer" "" + "breast cancer" "A primary or metastatic malignant neoplasm involving the breast. The vast majority of cases are carcinomas arising from the breast parenchyma or the nipple. Malignant breast neoplasms occur more frequently in females than in males." "" + "breast carcinoma by gene expression profile" "A header term that includes the following breast carcinoma subtypes determined by gene expression profiling: luminal A breast carcinoma, luminal B breast carcinoma, HER2 positive breast carcinoma, basal-like breast carcinoma, triple-negative breast carcinoma, and normal breast-like subtype of breast carcinoma." "" + "progesterone-receptor negative breast cancer" "" + "obsolete Her2-receptor positive breast cancer" "" "true" + "Her2-receptor negative breast cancer" "" + "obsolete triple-receptor negative breast cancer" "" "true" + "breast benign neoplasm" "A non-metastasizing neoplasm arising from the breast parenchyma." "" + "thoracic benign neoplasm" "A non-metastasizing neoplasm arising from any of the organs of the thoracic cavity. Representative examples include pleural adenomatoid tumor, chest wall lipoma, mediastinal schwannoma, and lung hamartoma." "" + "breast neoplasm" "A benign or malignant neoplasm of the breast parenchyma. It can originate from the ducts, lobules or the breast adipose tissue. Breast neoplasms are much more common in females than males." "" + "obsolete cell type benign neoplasm" "" "true" + "obsolete organ system benign neoplasm" "" "true" + "benign female reproductive system neoplasm" "A non-metastasizing neoplasm that arises from the female reproductive system. Representative examples include uterine corpus leiomyoma, endocervical polyp, and benign ovarian germ cell tumor." "" + "female reproductive system neoplasm" "A benign, precancerous, or malignant neoplasm that affects the female reproductive system. Representative examples include uterine corpus leiomyoma, endocervical polyp, ovarian carcinoma, cervical carcinoma, and endometrial carcinoma." "" + "benign male reproductive system neoplasm" "A non-metastasizing neoplasm that arises from the male reproductive system. Representative examples include benign prostate phyllodes tumor, benign Sertoli cell tumor, seminal vesicle cystadenoma, and epididymal adenomatoid tumor." "" + "male reproductive system disorder" "A disease involving the male reproductive system." "" + "vestibular gland benign neoplasm" "A benign neoplasm that involves the vestibular gland." "" + "vulvar benign neoplasm" "A non-metastasizing neoplasm that arises from the vulva. Representative examples include cellular angiofibroma, melanocytic nevus, nodular hidradenoma, and Bartholin gland adenoma." "" + "benign endocrine neoplasm" "A non-metastasizing, functioning or non-functioning neoplasm that arises from an endocrine organ. Representative examples include thyroid gland follicular adenoma and parathyroid gland adenoma." "" + "endocrine gland neoplasm" "A benign or malignant neoplasm arising from the epithelial cells of an endocrine organ. Representative examples include pituitary gland adenoma, pituitary gland carcinoma, thyroid gland carcinoma, carcinoid tumor, and neuroendocrine carcinoma." "" + "central nervous system organ benign neoplasm" "A benign neoplasm that involves the central nervous system." "" + "nervous system benign neoplasm" "Abnormal growth of cells in the nervous system without evidence of malignant characteristics. Unlike other organ systems, tumors in the central nervous system can have benign histological characteristics but still have life threatening effects due to their location within the neuraxis (e.g., brainstem gliomas)." "" + "central nervous system neoplasm" "A benign or malignant, primary or metastatic neoplasm that affects the brain, meninges, or spinal cord. Representative examples of primary neoplasms include astrocytoma, oligodendroglioma, ependymoma, and meningioma. Representative examples of metastatic neoplasms include carcinoma and leukemia." "" + "cardiovascular organ benign neoplasm" "A benign neoplasm that involves the cardiovascular system." "" + "cardiovascular neoplasm" "A benign or malignant neoplasm that affects the heart and/or vessels. Representative examples of benign neoplasms include atrial myxoma, hemangioma, and lymphangioma. Representative examples of malignant neoplasms include pericardial malignant mesothelioma and angiosarcoma." "" + "immune system organ benign neoplasm" "A benign neoplasm that involves the immune organ." "" + "benign connective and soft tissue neoplasm" "A non-metastasizing neoplasm that arises from the connective and soft tissue. Representative examples include lipoma, leiomyoma, fibroma, and osteoma." "" + "bone neoplasm" "A benign, intermediate, or malignant neoplasm involving the bone or articular cartilage." "" + "uterine benign neoplasm" "A non-metastasizing neoplasm that arises from the uterine corpus or the cervix. Representative examples include leiomyoma, adenomyoma, and endocervical polyp." "" + "tumor of uterus" "A neoplasm (disease) that involves the uterus." "" + "sensory organ benign neoplasm" "A benign neoplasm that involves the sense organ." "" + "neoplasm of thorax" "A neoplasm (disease) that involves the thoracic segment of trunk." "" + "obsolete osteoblastoma" "" "true" + "musculoskeletal system benign neoplasm" "A benign neoplasm that involves the musculoskeletal system." "" + "musculoskeletal system cancer" "A malignant neoplasm involving the musculoskeletal system" "" + "benign glioma" "A form of glioma without malignant characteristics." "" + "glioma" "A benign or malignant brain and spinal cord tumor that arises from glial cells (astrocytes, oligodendrocytes, ependymal cells). Tumors that arise from astrocytes are called astrocytic tumors or astrocytomas. Tumors that arise from oligodendrocytes are called oligodendroglial tumors. Tumors that arise from ependymal cells are called ependymomas." "" + "cartilage cancer" "A cancer involving a cartilage tissue." "" + "central nervous system primitive neuroectodermal neoplasm" "A neuroectodermal tumor that involves the central nervous system." "" + "primitive neuroectodermal tumor" "A malignant neoplasm that originates in the neuroectoderm. The neuroectoderm constitutes the portion of the ectoderm of the early embryo that gives rise to the central and peripheral nervous systems and includes some glial cell precursors." "" + "central nervous system cancer" "A malignant neoplasm involving the central nervous system" "" + "obsolete cerebellar medulloblastoma" "A cerebellum cancer that begins in the lower part of the brain on the floor of the skull." "" "true" + "brain meningioma" "A meningioma (disease) that involves the brain." "" + "meningioma" "A generally slow growing tumor attached to the dura mater. It is composed of neoplastic meningothelial (arachnoidal) cells. It typically occurs in adults, often women and it has a wide range of histopathological appearances. Of the various subtypes, meningothelial, fibrous and transitional meningiomas are the most common. Most meningiomas are WHO grade I tumors, and some are WHO grade II or III tumors. Most subtypes share a common clinical behavior, although some subtypes are more likely to recur and follow a more aggressive clinical course. (Adapted from WHO)" "" + "brain neoplasm" "A neoplasm (disease) that involves the brain." "" + "brain cancer" "A primary or metastatic malignant neoplasm affecting the brain." "" + "vulvar neoplasm" "A benign or malignant neoplasm that affects the vulva. Representative examples include Bartholin gland adenoma, vulvar nodular hidradenoma, vulvar carcinoma, and vulvar melanoma." "" + "cervical benign neoplasm" "A non-metastasizing neoplasm that arises from the cervix. Representative examples include squamous papilloma, endocervical polyp, and rhabdomyoma." "" + "uterine cervix neoplasm" "A neoplasm (disease) that involves the uterine cervix." "" + "fallopian tube benign neoplasm" "A non-metastasizing neoplasm that arises from the fallopian tube. Representative examples include papilloma, adenofibroma, and leiomyoma." "" + "fallopian tube neoplasm" "A benign or malignant neoplasm affecting the fallopian tube. Representative examples of benign neoplasms include papilloma, adenofibroma, and leiomyoma. Representative examples of malignant neoplasms include carcinoma, carcinosarcoma, and adenosarcoma." "" + "ovarian benign neoplasm" "A non-metastasizing neoplasm that arises from the ovary. Representative examples include serous cystadenoma, mucinous cystadenoma, clear cell adenofibroma, benign Brenner tumor, thecoma, and fibroma." "" + "ovarian neoplasm" "A benign, borderline, or malignant neoplasm involving the ovary." "" + "benign vaginal neoplasm" "A non-metastasizing neoplasm that arises from the vagina. Representative examples include squamous papilloma and melanocytic nevus." "" + "vaginal neoplasm" "A benign or malignant neoplasm affecting the vagina. Representative examples of benign neoplasms include squamous papilloma and melanocytic nevus. Representative examples of malignant neoplasms include carcinoma, melanoma, and sarcoma." "" + "nervous system neoplasm" "A neoplasm (disease) that involves the nervous system." "" + "sensory system cancer" "A malignant neoplasm involving the sensory system" "" + "nervous system cancer" "A primary or metastatic malignant neoplasm involving the nervous system." "" + "peritoneal benign neoplasm" "A non-metastasizing neoplasm that arises from the peritoneal cavity. Representative examples include adenomatoid tumor and disseminated peritoneal leiomyomatosis." "" + "peritoneal neoplasm" "A benign or malignant neoplasm that affects the peritoneal cavity. Representative examples of benign neoplasms include adenomatoid tumor and disseminated peritoneal leiomyomatosis. Representative examples of malignant neoplasms include primary peritoneal carcinoma, metastatic carcinoma to the peritoneum, and malignant mesothelioma." "" + "thoracic disorder" "A non-neoplastic or neoplastic disorder that affects the thorax and/or the organs of the thoracic cavity. Representative examples include pleural infection, mediastinitis, thymoma, mediastinal lymphoma, and pleural mesothelioma." "True" + "integumentary system benign neoplasm" "A benign neoplasm that involves the integumental system." "" + "integumentary system cancer" "A malignant neoplasm involving the integumental system" "" + "connective and soft tissue neoplasm" "A benign, intermediate, or malignant neoplasm that affects the connective and soft tissue." "" + "obsolete heavy chain disease" "" "true" + "obsolete alpha chain disease" "" "true" + "obsolete gamma heavy chain disease" "" "true" + "obsolete mu chain disease" "" "true" + "delta-heavy chain disease" "A heavy chain disease that results from an overproduction of delta antibody (IgD)." "" + "heavy chain disease" "Heavy-chain diseases (HCDs) are rare monoclonal lymphoplasma-cell proliferative disorders involving B cells and are characterized by the synthesis of truncated heavy chains without associated light chains." "" + "akinetopsia" "An agnosia that is a loss of motion perception." "" + "agnosia" "A rare disorder characterized by the lack of ability to recognize individuals, objects, shapes, sounds, or smells. There is no loss of memory. It is caused by neurological damage in the brain, specifically in the occipital or parietal lobes." "" + "neuromuscular disease" "Any disease that impairs the functioning of the muscles, either directly, being pathologies of the voluntary muscle, or indirectly, being pathologies of nerves or neuromuscular junctions" "" + "alexithymia" "An agnosia that is a deficiency in understanding, processing, or describing emotions." "" + "amusia" "An agnosia that is a loss of the ability to recognize musical notes, rhythms, and intervals." "" + "anosognosia" "An agnosia that is a loss of the ability to gain feedback about one's own condition or impairments." "" + "apperceptive agnosia" "An agnosia that is a loss of the ability to distinguish visual shapes." "" + "visual agnosia" "An inability to recognize or interpret objects by sight." "" + "apraxia" "Apraxia is a neurological disorder characterized by the inability to perform tasks or movements, despite having the desire and physical ability to perform them. It is caused by damage to the brain, especially the parietal lobe, and can arise from many diseases, tumors, a stroke, or traumatic brain injury. In some cases it is present from birth. There are several types of apraxia, which may occur alone or together. These include: Buccofacial or orofacial apraxia is the inability to carry out facial movements on demand. This may include licking the lips, sticking out the tongue, whistling, coughing, or winking. Ideational apraxia is the inability to carryout learned, complex tasks with multiple, sequential movements. This may include dressing, eating, and bathing. Ideomotor apraxia is the inability to perform a learned task (such as using a tool) or communicate using gestures (like waving good-bye). Limb-kinetic apraxia is the inability to make fine, precise movements with an arm or leg. This may include buttoning a shirt or tying a shoe. Verbal apraxia is difficulty coordinating mouth and speech movements. Verbal apraxia may be acquired or present from birth. Constructional apraxia is the inability to copy, draw, or construct simple figures. Oculomotor apraxia is difficulty moving the eyes on command. Treatment of apraxia may include physical, speech, or occupational therapy. If apraxia occurs as a symptom of another disorder, treatment should be directed to the underlying condition." "" + "perceptual disorders" "Cognitive disorders characterized by an impaired ability to perceive the nature of objects or concepts through use of the sense organs. These include spatial neglect syndromes, where an individual does not attend to visual, auditory, or sensory stimuli presented from one side of the body." "" + "associative visual agnosia" "An agnosia that is a loss of the ability to recognize visual scenes or classes of objects but retain the abilty to describe them." "" + "auditory agnosia" "An agnosia that is a loss of the ability to distinguishing environmental and non-verbal auditory cues including difficulty distinguishing speech from non-speech sounds even though hearing is usually normal." "" + "auditory perceptual disorders" "Acquired or developmental cognitive disorders of AUDITORY PERCEPTION characterized by a reduced ability to perceive information contained in auditory stimuli despite intact auditory pathways. Affected individuals have difficulty with speech perception, sound localization, and comprehending the meaning of inflections of speech." "" + "autotopagnosia" "An agnosia that is a loss of the ability to orient parts of the body." "" + "color agnosia" "An agnosia that is a loss of the ability to recognize a color, while being able to perceive or distinguish it." "" + "cortical deafness" "An agnosia that is a loss of the ability to perceive any auditory information but whose hearing is intact." "" + "finger agnosia" "An agnosia characterized by an inabilty to distinguish, name, or recognize the fingers" "" + "form agnosia" "An agnosia that is a loss of the ability to perceive a whole object while perceiving only parts of details." "" + "integrative agnosia" "Agnosia characterized by the inability to integrate perceptual wholes within knowledge." "" + "mirror agnosia" "An agnosia that is a loss of the ability to acknowledge objects in the neglected field that are visible when a mirror reflects the object visible in the non-neglected field." "" + "pain agnosia" "Loss of the ability to perceive and process pain." "" + "phonagnosia" "An agnosia that is a loss of the ability to recognize familiar voices." "" + "semantic agnosia" "An agnosia that is a loss of the ability to visually recognise an object while maintaining the use of non-visual sensory systems such as feeling, tapping, smelling, rocking or flicking the object to recognise the object." "" + "simultanagnosia" "An agnosia that is a loss of the ability to recgonize a whole image or scene while retianing the ability to recognize objects or details in their visual field one at a time." "" + "social emotional agnosia" "An agnosia that is a loss of the ability to perceive facial expression, body language and intonation, rendering them unable to non-verbally perceive people's emotions and limiting that aspect of social interaction." "" + "astereognosia" "An agnosia that is the loss of the ability to recognize objects by touch based on its texture, size and weight." "" + "tactile agnosia" "An agnosia that is a loss of the ability to recognize or identify objects by touch alone." "" + "time agnosia" "An agnosia that is a loss of the ability to comprehend the succession and duration of events." "" + "topographical agnosia" "An agnosia that is a loss of the ability to rely on visual cues to guide them directionally due to the inability to recognise objects." "" + "verbal auditory agnosia" "An agnosia that is a loss of the ability to recognising spoken words as semantically meaningful." "" + "vision disorder" "Any impairment to the vision." "" + "alexia without agraphia" "Loss of the power to comprehend written materials despite preservation of the ability to write (i.e., alexia without agraphia). This condition is generally attributed to lesions that 'disconnect' the visual cortex of the non-dominant hemisphere from language centers in the dominant hemisphere. This may occur when a dominant visual cortex injury is combined with underlying white matter lesions that involve crossing fibers from the occipital lobe of the opposite hemisphere. (From Adams et al., Principles of Neurology, 6th ed, p483)" "" + "diffuse alopecia areata" "An alopecia areata that involves diffuse loss of hair over the whole scalp." "" + "alopecia areata" "Loss of scalp and body hair involving microscopically inflammatory patchy areas." "" + "inherited organic acidemia" "An inherited disorder that affects the metabolism of any acidic compound containing carbon in a covalent linkage." "" + "inborn disorder of amino acid and other organic acid metabolism" "" + "disorder of organic acid metabolism" "A disease that has its basis in the disruption of organic acid metabolic process." "" + "obsolete survival motor neuron spinal muscular atrophy" "" "true" + "body dysmorphic disorder" "Preoccupations with appearance or self-image causing significant distress or impairment in important areas of functioning." "" + "somatoform disorder" "A category of psychiatric disorders which are characterized by the presence of physical symptoms that suggest a medical condition but are not fully explained by any known medical reasons." "" + "obsolete pain disorder" "" "true" + "obsolete Kleine-Levin syndrome" "" "true" + "bipolar II disorder" "A bipolar disorder that is characterized by at least one hypomanic episode and at least one major depressive episode; with this disorder, depressive episodes are more frequent and more intense than manic episodes." "" + "bipolar disorder" "A disorder of the brain that causes unusual shifts in mood, energy, activity levels and the ability to carry out day-to-day tasks. Often these moods range and shift from periods of elation and energized behavior to those of hopelessness and depression." "" + "seasonal affective disorder" "A syndrome characterized by depressions that recur annually at the same time each year, usually during the winter months. Other symptoms include anxiety, irritability, decreased energy, increased appetite (carbohydrate cravings), increased duration of sleep, and weight gain. sad (seasonal affective disorder) can be treated by daily exposure to bright artificial lights (phototherapy), during the season of recurrence." "" + "depressive disorder" "A melancholy feeling of sadness and despair." "" + "obsolete histidinemia" "" "true" + "obsolete juvenile absence epilepsy" "" "true" + "obsolete succinic semialdehyde dehydrogenase deficiency" "" "true" + "gamma-amino butyric acid metabolism disorder" "An amino acid metabolic disorder characterized by impairment of the GABA catabolic pathway." "" + "inborn disorder of gamma-aminobutyric acid metabolism" "An acquired metabolic disease that is has its basis in the disruption of gamma-aminobutyric acid metabolic process." "" + "obsolete homocarnosinosis" "" "true" + "familial hemiplegic migraine" "A migraine disorder characterized by individual and family history of aura that includes motor weakness." "" + "familial or sporadic hemiplegic migraine" "Hemiplegic migraine (HM) is a rare variety of migraine with aura characterized by the presence of a motor weakness during the aura. Hemiplegic migraine has two main forms depending on the familial history: patients with at least one first- or second-degree relative who has aura including motor weakness have familial hemiplegic migraine (FHM); patients without such familial history have sporadic hemiplegic migraine (SHM)." "" + "genetic central nervous system and retinal vascular disease" "" + "sporadic hemiplegic migraine" "A migraine disorder characterized by an aura that includes motor weakness and the absence of family history." "" + "ischemic colitis" "Inflammation of the colon due to colonic ischemia resulting from alterations in systemic circulation or local vasculature." "" + "colitis" "Inflammation of the colon." "" + "microscopic colitis" "Inflammation of the colon that is only apparent by microscopic examination." "" + "collagenous colitis" "A type of microscopic colitis of unknown etiology. It is characterized by the presence of collagen deposits in the lamina propria of the colonic mucosa. Patients present with chronic watery diarrhea. Colonoscopy reveals normal-appearing mucosa. The diagnosis is made with the microscopic examination of the colonic biopsy samples." "" + "lymphocytic colitis" "Microscopic colitis characterized by the accumulation of lymphocytes in the colonic epithelium and lamina propria. Patients present with chronic watery diarrhea. Colonoscopy reveals normal colonic mucosa. The diagnosis is made with the microscopic examination of the colonic biopsy samples." "" + "Clostridium difficile colitis" "A bacterial infection of the colon secondary to infection with Clostridium difficile bacteria. This infection generally results from the loss of normal gut flora secondary to recent antibiotic use, and manifests as copious watery stools, with associated abdominal pain and myalgia. C. difficile is the most common cause of pseudomembranous colitis, and can progress to toxic megacolon if left untreated." "" + "infectious colitis" "A viral or bacterial infectious process affecting the large intestine." "" + "chemical colitis" "A colitis caused by the introduction of harsh chemicals to the colon by an enema or other procedure. Chemical colitis can resemble ulcerative colitis, infectious colitis and pseudomembranous colitis endoscopically." "" + "diversion colitis" "A colitis which can occur as a complication of ileostomy or colostomy." "" + "Crohn jejunoileitis" "" + "Crohn disease" "A gastrointestinal disorder characterized by chronic inflammation involving all layers of the intestinal wall, noncaseating granulomas affecting the intestinal wall and regional lymph nodes, and transmural fibrosis. Crohn disease most commonly involves the terminal ileum; the colon is the second most common site of involvement." "" + "Crohn ileitis" "An Crohn disease involving a pathogenic inflammatory response in the ileum." "" + "Crohn jejunitis" "An Crohn disease involving a pathogenic inflammatory response in the jejunum." "" + "small bowel Crohn disease" "An Crohn disease involving a pathogenic inflammatory response in the small intestine." "" + "gastroduodenal Crohn disease" "An inflammatory bowel disease characterized by inflammation located in stomach and located in duodenum, has symptom nausea, has symptom vomiting, has symptom weight loss and has symptom loss of appetite." "" + "duodenitis" "Acute or chronic inflammation of the duodenum. Causes include bacterial and viral infections and gastroesophageal reflux disease. Symptoms include vomiting and abdominal pain." "" + "gastritis" "Inflammation of the stomach." "" + "obsolete amyotrophic lateral sclerosis type 13" "" "true" + "obsolete FTDALS" "" "true" + "obsolete Balo concentric sclerosis" "" "true" + "obsolete crest syndrome" "" "true" + "lymph node adenoid cystic carcinoma" "A adenoid cystic carcinoma that involves the lymph node." "" + "lymph node cancer" "A primary or metastatic malignant tumor involving the lymph node. Lymphomas and metastatic carcinomas are representative examples. -- 2004" "" + "agraphia" "An acquired writing disorder causing a loss in the ability to communicate through writing, either due to some motor dysfunction or the inability to spell." "" + "obsolete acrofrontofacionasal dysostosis" "" "true" + "obsolete Adams-Oliver syndrome" "" "true" + "obsolete Baraitser-winter syndrome" "" "true" + "obsolete basal ganglia calcification" "" "true" + "xanthinuria" "A metabolic metabolic disorder characterized by excess urinary excretion of the purine base xanthine." "" + "non-syndromic synpolydactyly" "A synpolydactyly that is not part of a larger syndrome." "" + "synpolydactyly" "A joint presentation of syndactyly (fusion of digits) and polydactyly (production of supernumerary digits)." "" + "non-syndromic polydactyly" "A congenital anomaly of the hand or foot, marked by the presence of supernumerary digits." "" + "non-syndromic syndactyly" "A congenital condition characterized by webbing between the fingers and/or toes, joining the digits together. In rare cases, the joining of the fingers or toes may involve bony fusion between the digits. Common causes include Down Syndrome and hereditary syndactyly." "" + "stutter disorder" "A speech disorder characterized by frequent sound or syllable repetitions, sound prolongations, or other dysfluencies that are inappropriate for the individual's age." "" + "speech disorder" "A term referring to disorders characterized by the disruption of normal speech. It includes stuttering, lisps, dysarthria and voice disorders." "" + "articulation disorder" "A disorder characterized by the failure to use developmentally expected speech sounds that are appropriate for the individual's age (i.e., the individual makes errors in sound production or use or omits sounds such as final consonants)." "" + "specific language impairment" "A language disorder characterized by difficulty in language acquisition despite otherwise normal development and in the absence of any obvious explanatory factors." "" + "obsolete Simpson-Golabi-Behmel syndrome" "" "true" + "idiopathic scoliosis" "A scoliosis with no known cause." "" + "scoliosis" "A congenital or acquired spinal deformity characterized by lateral curvature of the spine." "" + "idiopathic" "A disease characteristic in which the disease has an uncertain or unknown cause." "" + "idiopathic disease" "A disease or disorder for which the cause is of uncertain or unknown." "" + "scapuloperoneal myopathy" "A muscular dystrophy which begins at the lower legs and affects the shoulder region earlier and more severely than distal arm." "" + "Emery-Dreifuss muscular dystrophy" "Emery-Dreifuss muscular dystrophy (EDMD) is characterized by muscular weakness and atrophy, with early joint contractures and cardiomyopathy." "" + "ptosis" "The drooping of the upper eyelid." "" + "eye disorder" "A non-neoplastic or neoplastic disorder that affects the eye. Representative examples include conjunctivitis, glaucoma, cataract, conjunctival squamous cell carcinoma, uveal melanoma, and retinoblastoma." "" + "obsolete congenital ptosis" "" "true" + "obsolete pontocerebellar hypoplasia" "" "true" + "obsolete peeling skin syndrome" "" "true" + "combined oxidative phosphorylation deficiency" "A mitochondrial oxidative phosphorylation disorder in which multiple mitochondrial respiratory chain complexes." "" + "mitochondrial oxidative phosphorylation disorder" "" + "cornea plana" "" + "corneal disorder" "A non-neoplastic or neoplastic disorder that affects the cornea. Representative examples include keratitis, bullous keratopathy, and squamous cell carcinoma." "" + "Ohdo syndrome and variants" "" + "blepharophimosis - intellectual disability syndrome" "" + "obsolete oculodentodigital dysplasia" "" "true" + "dyschromatosis universalis hereditaria" "A pigmentation disease characterized by reticulate hyper- and hypo-pigmentated macules in a generalized distribution." "" + "hyperpigmentation of the skin" "" + "genetic skin disease" "An instance of skin disease that is caused by a modification of the individual's genome." "" + "obsolete megalocornea" "" "true" + "obsolete syndromic X-linked intellectual disability" "" "true" + "uvulitis" "Inflammation of the uvula." "" + "upper respiratory tract disorder" "A disease involving the upper respiratory tract." "" + "mouth disorder" "A disease involving the mouth." "" + "adenoid hypertrophy" "An upper respiratory tract disease characterized by the unusual growth of the adenoid tonsil; has symptom snoring, has symptom hyponasality, has symptom otitis media with effusion, has symptom mouth breathing." "" + "angular cheilitis" "Inflammation of the skin at the corners of the mouth characterized by redness, fissures or crusts." "" + "cheilitis" "An inflammatory process affecting the lip." "" + "obsolete persistent generalized lymphadenopathy" "" "true" + "oral hairy leukoplakia" "An epithelial hyperplasia of the oral cavity mucosa associated with Epstein-Barr virus and found almost exclusively in persons with HIV infection. The lesion consists of a white patch that is often corrugated or hairy." "" + "post-viral disorder" "A post-infectious disorder that follows viral infection but is distinct from the viral infection itself and its usual manifestations." "" + "AIDS" "A syndrome resulting from the acquired deficiency of cellular immunity caused by the human immunodeficiency virus (HIV). It is characterized by the reduction of the Helper T-lymphocytes in the peripheral blood and the lymph nodes. Symptoms include generalized lymphadenopathy, fever, weight loss, and chronic diarrhea. Patients with AIDS are especially susceptible to opportunistic infections (usually pneumocystis carinii pneumonia, cytomegalovirus (CMV) infections, tuberculosis, candida infections, and cryptococcosis), and the development of malignant neoplasms (usually non-Hodgkin lymphoma and Kaposi sarcoma). The human immunodeficiency virus is transmitted through sexual contact, sharing of contaminated needles, or transfusion of contaminated blood." "" + "lung abscess" "A bacterial, fungal or parasitic abscess that develops in the lung parenchyma. Causes include aspiration pneumonia, necrotizing pneumonia, necrotizing malignant tumors, and Wegener's granulomatosis." "" + "abscess" "An inflammatory process characterized by the accumulation of pus within a newly formed tissue cavity which is the result of a bacterial, fungal, or parasitic infection or the presence of a foreign body." "" + "lung disorder" "A disease involving the lung." "" + "respiratory tract infectious disorder" "Invasion of the host RESPIRATORY SYSTEM by microorganisms, usually leading to pathological processes or diseases." "" + "cardiac arrest" "Cessation of breathing and/or cardiac function." "" + "congestive heart failure" "Failure of the heart to pump a sufficient amount of blood to meet the needs of the body tissues, resulting in tissue congestion and edema. Signs and symptoms include shortness of breath, pitting edema, enlarged tender liver, engorged neck veins, and pulmonary rales." "" + "obsolete inguinal hernia" "The protrusion of a sac-like structure containing fibroadipose tissue through an abnormal opening in the inguinal region." "" "true" + "obsolete umbilical hernia" "A congenital defect in the muscles of the abdominal wall that results in the intestines and other abdominal organs developing outside the abdominal wall covered in a sac." "" "true" + "mastoiditis" "Inflammation of the mucosal lining of the mastoid antrum and mastoid air cell system of the mastoid process." "" + "bone inflammation disease" "Inflammation of the bone." "" + "breast abscess" "A breast disease characterized by a collection of pus in the breast." "" + "breast disorder" "A disease involving the breast." "" + "dental abscess" "A tooth disease characterized by a localized collection of pus associated with a tooth." "" + "tooth disorder" "A disease involving the calcareous tooth." "" + "cervical polyp" "A polyp that arises from the surface of the cervix." "" + "polyp" "A usually exophytic mass attached to the underlying tissue by a broad base or a thin stalk. Polyps can be neoplastic or non-neoplastic. Neoplastic polyps usually represent proliferations of the epithelium, and are commonly seen in the gastrointestinal tract. Polyps of the gastrointestinal tract are often called adenomas, are associated with dysplasia, and may eventually transform into carcinomas. Non-neoplastic polyps may be inflammatory, degenerative, or the result of malformations." "" + "cervix disorder" "A non-neoplastic or neoplastic disorder that affects the cervix. Representative examples include cervicitis, endocervical polyp, and carcinoma." "" + "uterine polyp" "A benign protruding lesion arising either from the endometrial cavity (endometrial polyp) or the endocervix (endocervical polyp). It may occasionally recur following complete resection." "" + "obsolete myelomeningocele" "" "true" + "obsolete omphalocele" "" "true" + "anal fistula" "A pathologic tract that connects an opening in the anal canal to the perianal skin. In the vast majority of cases there is a history of perianal abscess." "" + "rectal disorder" "A disease that involves the rectum." "" + "ectopic pregnancy" "An abnormal pregnancy in which the conception is implanted outside the endometrial cavity." "" + "female reproductive system disorder" "A disease involving the female reproductive system." "" + "parameningeal embryonal rhabdomyosarcoma" "An embryonal rhabdomyosarcoma located in the parameningeal region." "" + "embryonal rhabdomyosarcoma" "A poorly circumscribed morphologic variant of rhabdomyosarcoma. It is characterized by the presence of primitive skeletal muscle differentiation in any stage of myogenesis." "" + "glucocorticoid-induced osteoporosis" "An osteoporosis caused by chronic glucocorticoid use. Glucocorticoids impair the replication, differentiation and function of osteoblasts and induce the apoptosis of mature osteoblasts and osteocytes; the also favor osteoclastogenesis leading to an increase in bone resorption." "" + "corticosteroid-induced osteoporosis" "" + "bacillary angiomatosis" "A condition that is caused by infection with Bartonella, and which is characterized by vascular proliferation, usually in immunocompromised individuals." "" + "angiomatosis" "A benign diffuse vascular proliferation usually occurring in young adults. It is characterized by the formation of capillary-sized and cavernous vascular spaces. Patients present with diffuse persistent swelling." "" + "bartonellosis" "An infectious disease produced by bacteria of the genus Bartonella." "" + "benign neoplasm of skin" "A benign neoplasm that involves the zone of skin." "" + "skin disease caused by bacterial infection" "Skin diseases caused by bacteria." "" + "obsolete acrorenal syndrome" "" "true" + "obsolete acrofacial dysostosis" "" "true" + "syndrome caused by partial chromosomal deletion" "A chromosomal disorder consisting of the absence of a part of a chromosome." "" + "syndrome caused by partial chromosomal duplication" "A chromosomal disorder consisting of the presence of a part of a chromosome in more copies than in a regular genome." "" + "epithelial and subepithelial corneal dystrophy" "" + "corneal dystrophy" "The term corneal dystrophy embraces a heterogeneous group of bilateral genetically determined non-inflammatory corneal diseases that are usually restricted to the cornea. The designation is imprecise but remains in vogue because of its clinical value." "" + "epithelial-stromal TGFBI dystrophy" "Any corneal dystrophy (disease) in which the cause of the disease is a mutation in the TGFBI gene." "" + "obsolete corneal stromal dystrophy" "" "true" + "corneal endothelial dystrophy" "A corneal dystrophy (disease) that involves the corneal epithelium." "" + "obsolete nut midline carcinoma" "" "true" + "obsolete Zika fever" "" "true" + "chicken egg allergy" "An egg allergy triggered by Gallus gallus eggs." "" + "allergic disease" "An immune response that occurs following re-exposure to an innocuous antigen, and that requires the presence of existing antibodies against that antigen. This response involves the binding of IgE to mast cells, and may worsen with repeated exposures." "" + "shellfish allergy" "Allergic reaction to shellfish or shellfish products." "" + "allergic respiratory disease" "A respiratory system disease with a basis in a pathological type I hypersensitivity reaction." "" + "obsolete pollen allergy" "A allergy involving pollen." "" "true" + "obsolete Timothy grass allergy" "A allergy involving a Phleum pratense." "" "true" + "autoimmune neuropathy" "An autoimmune form of peripheral neuropathy." "" + "peripheral neuropathy" "A disorder affecting the peripheral nervous system. It manifests with pain, tingling, numbness, and muscle weakness. It may be the result of physical injury, toxic substances, viral diseases, diabetes, renal failure, cancer, and drugs." "" + "drug allergy" "Immunologically mediated adverse reactions to medicinal substances used legally or illegally." "" + "obsolete metal allergy" "A allergy involving a metal allergen." "" "true" + "gastrointestinal allergy" "A allergic disease that involves the digestive tract." "" + "fruit allergy" "A food allergy triggered by a plant fruit product." "" + "obsolete apple allergy" "A allergy involving a Malus domestica." "" "true" + "obsolete apricot allergy" "A allergy involving a Prunus armeniaca." "" "true" + "cherry allergy" "A fruit allergy triggered by Prunus avium plant fruit food product." "" + "Indian plum allergy" "A fruit allergy triggered by Ziziphus mauritiana plant fruit food product." "" + "orange allergy" "A fruit allergy triggered by Citrus sinensis plant fruit food product." "" + "melon allergy" "A fruit allergy triggered by Cucumis melo plant fruit food product." "" + "obsolete peach allergy" "A allergy involving a Prunus persica." "" "true" + "obsolete plum allergy" "A allergy involving a Prunus domestica." "" "true" + "obsolete tomato allergy" "A allergy involving a Solanum lycopersicum." "" "true" + "obsolete fish allergy" "A allergy involving fish." "" "true" + "obsolete Atlantic cod allergy" "A allergy involving a Gadus morhua." "" "true" + "obsolete Atlantic salmon allergy" "A allergy involving a Salmo salar." "" "true" + "obsolete carp allergy" "A allergy involving a Cyprinus carpio." "" "true" + "obsolete zebrafish allergy" "" "true" + "obsolete rainbow trout allergy" "A allergy involving a Oncorhynchus mykiss." "" "true" + "obsolete beta-lactam allergy" "A allergy involving a beta-lactam." "" "true" + "obsolete penicillin allergy" "An allergy to Penicillin." "" "true" + "obsolete cow milk allergy" "A allergy involving cow mile." "" "true" + "obsolete goat milk allergy" "A allergy involving goat milk." "" "true" + "obsolete mollusc allergy" "A allergic disease involving a mollusc food product." "" "true" + "obsolete crustacean allergy" "A allergic disease involving a crustacean food product." "" "true" + "obsolete brown shrimp allergy" "A allergic disease involving a brown shrimp." "" "true" + "obsolete green mud crab allergy" "A allergic disease involving a green mud crab." "" "true" + "obsolete Indian prawn allergy" "A allergic disease involving a Indian prawn." "" "true" + "obsolete tiger prawn allergy" "A allergy involving a Penaeus monodon." "" "true" + "obsolete white shrimp allergy" "A allergy involving a Litopenaeus schmitti." "" "true" + "obsolete snail allergy" "A allergic disease involving a snail food product." "" "true" + "obsolete horned turban snail allergy" "A allergy involving a Turbo cornutus." "" "true" + "latex allergy" "Allergic reaction to products containing processed natural rubber latex such as rubber gloves, condoms, catheters, dental dams, balloons, and sporting equipment. Both T-cell mediated (hypersensitivity, delayed) and IgE antibody-mediated (hypersensitivity, immediate) allergic responses are possible. Delayed hypersensitivity results from exposure to antioxidants present in the rubber; immediate hypersensitivity results from exposure to a latex protein." "" + "obsolete hepatoid adenocarcinoma" "" "true" + "purpura fulminans" "A severe, rapidly fatal reaction occurring most commonly in children following an infectious illness. It is characterized by large, rapidly spreading skin hemorrhages, fever, or shock. Purpura fulminans often accompanies or is triggered by disseminated intravascular coagulation." "" + "disseminated intravascular coagulation" "A pathological process where the blood starts to coagulate throughout the whole body. This depletes the body of its platelets and coagulation factors, and there is an increased risk of hemorrhage." "" + "purpura" "A small blood vessel hemorrhage into the skin and/or mucous membranes. Newer lesions appear reddish in color. Older lesions are usually a darker purple color and eventually become a brownish-yellow color." "" + "obsolete DMD-related dilated cardiomyopathy" "A dilated cardiomyopathy that has material basis in mutations in the DMD gene." "" "true" + "anomalous left coronary artery from the pulmonary artery" "A congenital coronary vessel anomaly in which the left main coronary artery originates from the pulmonary artery instead of from aorta. The congenital heart defect typically results in coronary artery fistula; left-sided heart failure and mitral valve insufficiency during the first months of life." "" + "congenital coronary artery anomaly" "" + "cardiac tuberculosis" "Pathological conditions of the cardiovascular system caused by infection of mycobacterium tuberculosis. Tuberculosis involvement may include the heart; the blood vessels; or the pericardium." "" + "B-cell adult acute lymphocytic leukemia" "An acute B-lymphoblastic leukemia occurring in adults." "" + "B-cell childhood acute lymphoblastic leukemia" "An acute B-lymphoblastic leukemia occurring in children." "" + "adult acute lymphoblastic leukemia" "An acute lymphoblastic leukemia occurring during adulthood." "" + "adult lymphoma" "A lymphoma that occurs in an adult." "" + "fetal nicotine spectrum disorder" "A specific developmental disorder that is characterized by physical, behavioral and learning birth defects resulting from maternal ingestion of nicotine during pregnancy." "" + "abdominal obesity-metabolic syndrome" "" + "overnutrition" "An imbalanced nutritional status resulting from excessive intake of nutrients. Generally, overnutrition generates an energy imbalance between food consumption and energy expenditure leading to disorders such as obesity." "" + "" "true" + "anterior segment dysgenesis 7" "Any anterior segment dysgenesis in which the cause of the disease is a mutation in the PXDN gene." "" + "obsolete lethal congenital contracture syndrome 4" "" "true" + "anencephaly" "A rare neural tube defect during pregnancy, resulting in the absence of a large portion of the brain and skull in the fetus." "" + "cerebral cavernous malformation" "A disorder characterized by malformations in the structure of the capillaries in the brain. It is caused by mutations in the CCM2, KRIT1 and PDCD10 genes. The capillaries fill with blood and stretch, thereby creating cavernous spaces. Some patients experience headaches, seizures, or visual and hearing disturbances. Cerebral hemorrhage may also occur." "" + "central nervous system hemangioma" "A hemangioma arising from the brain and spinal cord." "" + "" "true" + "cerebral cavernous malformation 3" "Any familial cerebral cavernous malformation in which the cause of the disease is a mutation in the PDCD10 gene." "" + "obsolete lymphoproliferative syndrome" "" "true" + "" "true" + "familial temporal lobe epilepsy 3" "" + "congenital diarrhea" "" + "obsolete hypomyelinating leukodystrophy" "" "true" + "obsolete syndromic X-linked intellectual disability Cabezas type" "" "true" + "salmonellosis" "Infections with bacteria of the genus salmonella." "" + "dysentery" "Acute inflammation of the intestine associated with infectious diarrhea of various etiologies, generally acquired by eating contaminated food containing toxins, biological derived from bacteria or other microorganisms. Dysentery is characterized initially by watery feces then by bloody mucoid stools. It is often associated with abdominal pain; fever; and dehydration." "" + "juvenile-onset Parkinson disease" "" + "Parkinson disease" "A progressive degenerative disorder of the central nervous system characterized by loss of dopamine producing neurons in the substantia nigra and the presence of Lewy bodies in the substantia nigra and locus coeruleus. Signs and symptoms include tremor which is most pronounced during rest, muscle rigidity, slowing of the voluntary movements, a tendency to fall back, and a mask-like facial expression." "" + "young-onset Parkinson disease" "A form of Parkinson disease (PD) characterized by an age of onset between 21-45 years, rigidity, painful cramps followed by tremor, bradykinesia, dystonia, gait complaints and falls, and other non-motor symptoms. A slow disease progression and a more pronounced response to dopaminergic therapy are also observed in most YOPD forms." "" + "obsolete early-onset Parkinson disease" "" "true" + "obsolete Waldenstroem's macroglobulinemia" "" "true" + "obsolete myeloid neoplasm" "" "true" + "bone remodeling disease" "A bone disease that results in formation or resorption abnormalities located in bone." "" + "bone disorder" "Diseases of bones." "" + "obsolete bone deterioration disease" "A bone structure disease that results in change or damage of structure located in bone." "" "true" + "obsolete ischemic bone disease" "" "true" + "disease of bone structure" "" + "bone resorption disease" "A disease that has its basis in the disruption of bone resorption. Bone resorption is a process in which specialized cells known as osteoclasts degrade the organic and inorganic portions of bone, and endocytose and transport the degradation products." "" + "obsolete chromosomal disease" "" "true" + "obsolete congenital abnormality" "Any abnormality, anatomical or biochemical, evident at birth or during the neonatal period." "" "true" + "dysbaric osteonecrosis" "A form of avascular necrosis where there is death of a portion of the bone that is thought to be caused by nitrogen embolism." "" + "avascular necrosis" "Necrotic changes in the bone tissue due to interruption of blood supply. Most often affecting the epiphysis of the long bones, the necrotic changes result in the collapse and the destruction of the bone structure." "" + "obsolete metaphyseal dysplasia" "" "true" + "" "true" + "metaphyseal chondrodysplasia, Jansen type" "Jansen's metaphyseal chondrodysplasia (JMC) is a very rare autosomal dominant skeletal dysplasia characterized by short-limbed short stature (due to severe metaphyseal changes that are often discovered in childhood by imaging), waddling gait, bowed legs, contracture deformities of the joints, short hands with clubbed fingers, clinodactyly, prominent upper face and small mandible, as well as chronic parathyroid hormone-independent hypercalcemia, hypercalciuria, and mild hypophosphatemia." "" + "" "true" + "Shwachman-Diamond syndrome" "Shwachman-Diamond syndrome (SDS) is a rare multisystemic syndrome characterized by chronic and usually mild neutropenia, pancreatic exocrine insufficiency associated with steatorrhea and growth failure, skeletal dysplasia with short stature, and an increased risk of bone marrow aplasia or leukemic transformation." "" + "obsolete spondyloepimetaphyseal dysplasia" "" "true" + "fibrous dysplasia" "A genetic, non-inheritable disorder caused by osteoblastic differentiation defects that result in the replacement of bone marrow and trabecular bone by fibrous stroma and immature bone. It usually affects a single bone and less frequently multiple bones. Skull, femur, tibia, and humerus are the most frequently affected bones. It manifests with pain, deformities, and fractures." "" + "acquired" "" + "obsolete craniodiaphyseal dysplasia" "" "true" + "obsolete pycnodysostosis" "" "true" + "obsolete axial osteomalacia" "" "true" + "fibrogenesis imperfecta ossium" "A syndrome that involves abnormality of collagen synthesis in lamellar bones, with manifestations limited to the skeleton. The initial symptom is frequently spontaneous fractures." "" + "obsolete hypochondroplasia" "" "true" + "obsolete achondrogenesis" "" "true" + "obsolete hypochondrogenesis" "" "true" + "obsolete Kniest dysplasia" "" "true" + "obsolete Stickler syndrome" "" "true" + "obsolete acromesomelic dysplasia" "" "true" + "obsolete Charcot-Marie-Tooth disease type 6" "" "true" + "obsolete Charcot-Marie-Tooth disease type 7" "A Charcot-Marie-Tooth disease that is characterized by optic atrophy followed by retinitis pigmentosa." "" "true" + "Charcot-Marie-Tooth disease" "An inherited degenerative disorder involving the peripheral nerves. It is caused by mutations in the genes that are responsible for the production of proteins necessary for the function and structure of the peripheral nerves. It is characterized by muscle atrophy and weakness in the feet, legs, hands, and arms and loss of sensation in the limbs." "" + "neuronal intestinal dysplasia" "" + "colonic disorder" "Pathological processes in the colon region of the large intestine (intestine, large)." "" + "spina bifida occulta" "The mildest form of spina bifida, characterized by any of several neural tube defects which may go undetected until an x-ray is performed. Treatment is symptomatic." "" + "spina bifida" "A congenital neural tube defect in which vertebrae are not fully formed. It results in the protrusion of the spinal cord through the opening of the vertebrae." "" + "obsolete neural tube defect" "" "true" + "obsolete tubular aggregate myopathy" "" "true" + "obsolete reducing body myopathy" "" "true" + "myopathy, lactic acidosis, and sideroblastic anemia" "Mitochondrial myopathy and sideroblastic anemia belongs to the heterogeneous family of metabolic myopathies. It is characterised by progressive exercise intolerance manifesting in childhood, onset of sideroblastic anaemia around adolescence, lactic acidaemia, and mitochondrial myopathy." "" + "inborn mitochondrial myopathy" "Myopathy caused by mitochondrial abnormalities." "" + "mitochondrial disorder due to a defect in mitochondrial protein synthesis" "True" + "inherited sideroblastic anemia" "" + "obsolete congenital myopathy" "" "true" + "obsolete congenital fiber-type disproportion" "" "true" + "myoglobinuria" "" + "rhabdomyolysis" "A clinical syndrome resulting from direct or indirect muscle injury and subsequent release of myoglobin into the plasma." "" + "obsolete multiple pterygium syndrome" "" "true" + "obsolete mitochondrial DNA depletion syndrome 6" "" "true" + "obsolete congenital fibrosis of the extraocular muscles" "" "true" + "childhood acute lymphoblastic leukemia" "An acute lymphoblastic leukemia occurring during childhood. The majority of cases are B-acute lymphoblastic leukemias. Approximately 15% of the cases are T-acute lymphoblastic leukemias." "" + "acute lymphoblastic leukemia" "Leukemia with an acute onset, characterized by the presence of lymphoblasts in the bone marrow and the peripheral blood. It includes the acute B lymphoblastic leukemia and acute T lymphoblastic leukemia." "" + "pediatric lymphoma" "A Hodgkin or non-Hodgkin lymphoma that occurs during childhood." "" + "childhood leukemia" "An acute or chronic leukemia that occurs during childhood." "" + "primary bone lymphoma" "A rare non-Hodgkin lymphoma or even more rarely, a Hodgkin lymphoma that arises from the bone, without lymph node or other extranodal involvement. The femur, spine, and pelvic bones are the most commonly affected sites. The majority of patients present with bone pain in the affected area. A single bone or multiple skeletal sites may be involved. The prognosis is related to the cell type and the stage of the disease." "" + "T-cell childhood acute lymphocytic leukemia" "An acute lymphoblastic leukemia of T-cell origin occurring in children." "" + "childhood precursor T-lymphoblastic lymphoma/leukemia" "A T lymphoblastic leukemia/lymphoma that occurs during childhood." "" + "T-cell acute lymphoblastic leukemia" "Acute lymphoblastic leukemia of T-cell origin. It comprises about 15% of childhood cases and 25% of adult cases. It is more common in males than females. (WHO, 2001)" "" + "precursor B-cell acute lymphoblastic leukemia" "The most frequent type of acute lymphoblastic leukemia. Approximately 75% of cases occur in children under six years of age. This is a good prognosis leukemia. In the pediatric age group the complete remission rate is approximately 95% and the disease free survival rate is 70%. Approximately 80% of children appear to be cured. In the adult age group the complete remission rate is 60-85%. (WHO, 2001)" "" + "lymphoblastic lymphoma" "A lymphoma composed of immature small to medium-sized precursor lymphoid cells (lymphoblasts). It includes the B- and T-cell lymphoblastic lymphoma." "" + "precursor lymphoblastic lymphoma/leukemia" "A neoplasm of immature malignant lymphocytes (lymphoblasts) committed to the B-cell or T-cell lineage. Neoplasms involving the bone marrow and the peripheral blood are called precursor lymphoblastic leukemias or acute lymphoblastic leukemias. Neoplasms involving primarily lymph nodes or extranodal sites are called lymphoblastic lymphomas. -- 2003" "" + "non-Hodgkin lymphoma" "Distinct from Hodgkin lymphoma both morphologically and biologically, non-Hodgkin lymphoma (NHL) is characterized by the absence of Reed-Sternberg cells, can occur at any age, and usually presents as a localized or generalized lymphadenopathy associated with fever and weight loss. The clinical course varies according to the morphologic type. NHL is clinically classified as indolent, aggressive, or having a variable clinical course. NHL can be of B-or T-/NK-cell lineage." "" + "T-cell childhood lymphoblastic lymphoma" "A T lymphoblastic lymphoma that occurs during childhood." "" + "adult acute monocytic leukemia" "A acute monocytic leukemia that occurs in an adult." "" + "acute monocytic leukemia" "Acute monoblastic leukemia (AML-M5), is one of the most common subtypes of acute myeloid leukemia (AML) that is either comprised of more than 80% of monoblasts (AML-M5a) or 30-80% monoblasts with (pro)monocytic differentiation (AML-M5b). AML-M5 presents with asthenia, pallor, fever, and dizziness. Specific features of AML-M5 include hyperleukocytosis, propensity for extramedullary infiltrates, coagulation abnormalities including disseminated intravascular coagulation and neurological disorders. Leukemia cutis and gingival infiltration can also be seen. A characteristic translocation observed in AML-M5 is t(9;11)." "" + "obsolete herpes simplex virus keratitis" "" "true" + "obsolete Cryptococcal meningitis" "" "true" + "cytomegalovirus retinitis" "Infection of the retina by cytomegalovirus characterized by retinal necrosis, hemorrhage, vessel sheathing, and retinal edema. Cytomegalovirus retinitis is a major opportunistic infection in aids patients and can cause blindness." "" + "retinitis" "Inflammation of the retina." "" + "cytomegalovirus infection" "A herpesvirus infection caused by Cytomegalovirus. Healthy individuals generally do not produce symptoms. However, the infection may be life-threatening in affected immunocompromised patients. The virus may cause retinitis, esophagitis, gastritis, and colitis. Morphologically, it is characterized by the presence of intranuclear inclusion bodies." "" + "endophthalmitis" "An infectious process affecting the internal structures of the eye." "" + "infectious disorder of the nervous system" "A infectious disease that involves the nervous system." "" + "viral eye infection" "Infections of the eye caused by minute intracellular agents. These infections may lead to severe inflammation in various parts of the eye - conjunctiva, iris, eyelids, etc. Several viruses have been identified as the causative agents. Among these are Herpesvirus, Adenovirus, Poxvirus, and Myxovirus." "" + "cutaneous candidiasis" "Candidiasis of the skin manifested as eczema-like lesions of the interdigital spaces, perleche, or chronic paronychia. (Dorland, 27th ed)" "" + "candidiasis" "Infection with the organism Candida." "" + "obsolete lupus nephritis" "" "true" + "obsolete myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1" "" "true" + "obsolete myeloid and lymphoid neoplasms associated with PDGFRA rearrangement" "" "true" + "obsolete myeloid neoplasms associated with PDGFRB rearrangement" "" "true" + "myeloid and lymphoid neoplasms associated with FGFR1 abnormalities" "" + "myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2" "" + "obsolete cloacal exstrophy" "" "true" + "obsolete meningococcal meningitis" "" "true" + "obsolete hepatic veno-occlusive disease" "" "true" + "mucositis" "Inflammation of the mucous membranes." "" + "haemophilus meningitis" "Infections of the nervous system caused by bacteria of the genus haemophilus, and marked by prominent inflammation of the meninges. haemophilus influenzae type B is the most common causative organism. The condition primarily affects children under 6 years of age but may occur in adults." "" + "meningitis" "A disorder characterized by acute inflammation of the meninges of the brain and/or spinal cord." "" + "bacterial meningitis" "Inflammation of the membranes surrounding the brain and spinal cord due to a bacterial infection." "" + "haemophilus infectious disease" "Infections with bacteria of the genus haemophilus." "" + "Zika virus congenital syndrome" "A congenital birth syndrome that arises from materal Zika infection." "" + "post-infectious syndrome" "" + "Zika virus infectious disease" "Mosquito-born virus disease characterized by a clinical course that may be asymptomatic or mild with fever, conjunctivitis, muscle and joint pain, headache, exanthema, but may also be associated with severe neurological (meningitis, meningoencephalitis and myelitis) and auto-immune (Guillain-Barre syndrome) complications, as well as a potential increase of birth defects (microcephaly) if the infection occurs during pregnancy." "" + "mixed fibrolamellar hepatocellular carcinoma" "A fibrolamellar carcinoma that is characterized by the presence of both pure fibrolamellar hepatocellular carcinoma and and conventional hepatocellular carcinoma components." "" + "fibrolamellar hepatocellular carcinoma" "A distinctive type of liver cell carcinoma that arises in non-cirrhotic livers and is seen predominantly in young patients. The tumor cells are polygonal and deeply eosinophilic, and are embedded in a fibrous stroma. The prognosis is similar to classical hepatocellular carcinoma that arises in non-cirrhotic livers, and better than hepatocellular carcinoma that arises in cirrhotic livers." "" + "colon medullary carcinoma" "A rare, invasive colon adenocarcinoma characterized by the presence of sheets of malignant epithelial cells with vesicular nuclei, prominent nucleoli, and abundant eosinophilic cytoplasm. It usually has a favorable prognosis." "" + "colorectal medullary carcinoma" "A rare, invasive colorectal adenocarcinoma characterized by the presence of sheets of malignant epithelial cells with vesicular nuclei, prominent nucleoli, and abundant eosinophilic cytoplasm. It usually has a favorable prognosis." "" + "colon adenocarcinoma" "A carcinoma that arises from glandular epithelial cells of the colon" "" + "mixed mucinous and nonmucinous bronchioloalveolar adenocarcinoma" "A rare morphologic variant of bronchiolo-alveolar lung carcinoma characterized by the presence of both mucin and non-mucin producing cells." "" + "minimally invasive lung adenocarcinoma" "A solitary adenocarcinoma arising from the lung measuring 3 cm or less. It is characterized by a predominantly lepidic pattern and 5 mm or less invasion in greatest dimension. It is usually a non-mucinous adenocarcinoma, but rarely may be mucinous." "" + "mucinous bronchioloalveolar adenocarcinoma" "A bronchiolo-alveolar adenocarcinoma that is characterized by a tumour cells containing abundant mucin in their cytoplasm and composed of tall columnar cells growing along alveolar walls without stromal invasion." "" + "mucinous neoplasm" "" + "lung colloid adenocarcinoma" "A morphologic variant of lung adenocarcinoma characterized by the presence of mucin pools containing islands of well differentiated adenocarcinoma cells." "" + "nonmucinous bronchioloalveolar adenocarcinoma" "A bronchiolo-alveolar adenocarcinoma that is characterized by cells with cuboidal or columnar morphology with eosinophilic or clear cytoplasm and shows Clara cell or type 2 pneumocyte differentiation." "" + "obsolete chronic neutrophilic leukemia" "" "true" + "obsolete chronic myelomonocytic leukemia" "" "true" + "malignant hemangioma" "A malignant form of hemangioma." "" + "hemangioma" "A benign vascular lesion characterized by the formation of capillary-sized or cavernous vascular channels." "" + "obsolete malignant epithelioid hemangioendothelioma" "" "true" + "obsolete PTEN hamartoma tumor syndrome" "" "true" + "relapsed/refractory diffuse large B-cell lymphoma" "A diffuse large B-cell lymphoma characterized by less than 50 percent decrease in lesion size with induction therapy or the appearance of new lesions or the appearance of new lesions after attainment of complete remission." "" + "diffuse large B-cell lymphoma" "Diffuse large B-cell lymphoma is the most common subtype of non-Hodgkin lymphoma (NHL) in adults characterized by a median age of presentation in the sixth decade of life (but also rarely occurring in adolescents and children) with the initial presentation being single or multiple rapidly growing masses (that may or may not be painful) in nodal or extranodal sites (such as thyroid, skin, breast, gastrointestinal tract, testes, bone, or brain) and that can be accompanied by symptoms of fever, night sweats and weight loss. DLBCL has an aggressive disease course, with the elderly having a poorer prognosis than younger patients, and with relapses being common." "" + "agenesis of the corpus callosum with peripheral neuropathy" "Corpus callosum agenesis-neuropathy is a neurodegenerative disorder characterized by severe progressive sensorimotor neuropathy beginning in infancy with resulting hypotonia, areflexia, amyotrophy and variable degrees of dysgenesis of the corpus callosum. Additional features include mild-to-severe intellectual and developmental delays, and psychiatric manifestations that include paranoid delusions, depression, hallucinations, and \"autistic-like\" features. Affected individuals are usually wheelchair restricted in the second decade of life and die in the third decade of life. The disease is inherited as an autosomal recessive trait." "" + "bulbospinal muscular atrophy" "" + "myoclonus-dystonia syndrome" "Myoclonus-dystonia syndrome (MDS) is a rare movement disorder characterized by mild to moderate dystonia along with 'lightning-like' myoclonic jerks." "" + "primary myoclonus" "" + "persistent combined dystonia" "" + "complex cortical dysplasia with other brain malformations" "" + "obsolete cortisone reductase deficiency" "" "true" + "obsolete Alzheimer disease 5" "" "true" + "obsolete amelogenesis imperfecta type 1C" "" "true" + "arrhythmogenic right ventricular dysplasia 13" "Any arrhythmogenic right ventricular cardiomyopathy in which the cause of the disease is a mutation in the CTNNA3 gene." "" + "familial isolated arrhythmogenic right ventricular dysplasia" "Familial isolated arrhythmogenic right ventricular dysplasia (ARVC) is the familial autosomal dominant form of ARVC, a heart muscle disease characterized by life-threatening ventricular arrhythmias with left bundle branch block configuration that may manifest with palpitations, ventricular tachycardia, syncope and sudden fatal attacks, and that is due to dystrophy and fibro-fatty replacement of the right ventricular myocardium that may lead to right ventricular aneurysms." "" + "Bartter disease type 4B" "A Bartter disease that has material basis in simultaneous mutation in both the CLCNKA and CLCNKB genes." "" + "infantile Bartter syndrome with sensorineural deafness" "Infantile Bartter syndrome with deafness, a phenotypic variant of Bartter syndrome is characterized by maternal polyhydramnios, premature delivery, polyuria and sensorineural deafness and is associated with hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure, and vascular resistance to angiotensin II." "" + "retinitis pigmentosa 6" "A retinitis pigmentosa that has material basis in variation in the chromosome region Xp21.3-p21.2." "" + "retinitis pigmentosa" "Retinitis pigmentosa (RP) is an inherited retinal dystrophy leading to progressive loss of the photoreceptors and retinal pigment epithelium and resulting in blindness usually after several decades." "" + "X-linked recessive disease" "X-linked recessive form of disease." "" + "obsolete dilated cardiomyopathy 1T" "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the TMPO gene." "" "true" + "autosomal recessive nonsyndromic hearing loss 5" "An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 14q12." "" + "hearing loss, autosomal recessive" "Autosomal recessive form of nonsyndromic deafness." "" + "hereditary spherocytosis type 2" "Any hereditary spherocytosis in which the cause of the disease is a mutation in the SPTB gene." "" + "hereditary spherocytosis" "Hereditary spherocytosis is a congenital hemolytic anemia with a wide clinical spectrum (from symptom-free carriers to severe hemolysis) characterized by anemia, variable jaundice, splenomegaly and cholelithiasis." "" + "cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1" "A CADASIL characterized by migraine, strokes, and white matter lesions that has material basis in heterozygous mutation in the NOTCH3 gene on chromosome 19p13." "" + "cerebral arteriopathy with subcortical infarcts and leukoencephalopathy" "" + "" "true" + "Bernard-Soulier syndrome, type A2, autosomal dominant" "A Bernard-Soulier syndrome characterized by autosomal dominant inheritance of mild to moderate bleeding tendency, thrombocytopenia, and an increased mean platelet size that has material basis in heterozygous mutations in the GP1BA gene on chromosome 17p." "" + "intestinal infectious disease" "An infectious disease involving a pathogenic inflammatory response in the intestinal mucosa." "" + "obsolete thyroid lymphoma" "" "true" + "endometritis" "An acute or chronic, usually bacterial infectious process affecting the endometrium. It may extend to the myometrium and parametrial tissues. Symptoms include lower abdominal pain, vaginal discharge, and vaginal bleeding." "" + "endometrial disorder" "A non-neoplastic or neoplastic disorder that affects the endometrium. Representative examples include endometritis, endometrial hyperplasia, and endometrial carcinoma." "" + "ampulla of vater cancer" "A primary or metastatic malignant neoplasm involving the ampulla of Vater." "" + "duodenum cancer" "A primary or metastatic malignant neoplasm that affects the duodenum. Representative examples include carcinoma, lymphoma, and sarcoma." "" + "malignant tumor of extrahepatic bile duct" "A cancer that involves the extrahepatic bile duct." "" + "small intestine cancer" "A primary or metastatic malignant neoplasm involving the small intestine." "" + "common bile duct neoplasm" "Tumor or cancer of the common bile duct including the ampulla of vater and the sphincter of oddi." "" + "pelvic inflammatory disease" "Pelvic inflammatory disease (PID) is an acute or chronic inflammation in the pelvic cavity. It is most commonly caused by sexually transmitted diseases, including chlamydia and gonorrhea that have ascended into the uterus, fallopian tubes, or ovaries as a result of intercourse or childbirth, or of surgical procedures, including insertion of IUDs or abortion. PID may be either symptomatic or asymptomatic. It may cause infertility and it may raise the risk of ectopic pregnancy. PID is a disease associated with HIV infection." "" + "interstitial emphysema" "Pathologic accumulation of air in the interstitium of the lungs, which is caused by the rupture of alveoli and terminal bronchioles, and is most often seen in premature infants that need mechanical ventilation for respiratory distress syndrome." "" + "pulmonary emphysema" "A subcategory of chronic obstructive pulmonary disease (COPD). It occurs in people who smoke and suffer from chronic bronchitis. It is characterized by inflation of the alveoli, alveolar wall damage, and reduction in the number of alveoli, resulting in difficulty breathing." "" + "compensatory emphysema" "" + "hyperlucent lung" "A lung with reduced markings on its chest radiograph and increased areas of transradiancy (hyperlucency). A hyperlucent lung is usually associated with pulmonary emphysema or pneumothorax." "" + "eye accommodation disease" "Disease that disrupts the process by which the vertebrate eye changes optical power to maintain a clear image or focus on an object as its distance varies." "" + "asymptomatic neurosyphilis" "" + "eyelid melanoma" "A melanoma that arises from the upper or lower eyelid." "" + "cutaneous melanoma" "A primary melanoma arising from atypical melanocytes in the skin. Precursor lesions include acquired and congenital melanocytic nevi, and dysplastic nevi. Several histologic variants have been recognized, including superficial spreading melanoma, acral lentiginous melanoma, nodular melanoma, and lentigo maligna melanoma." "" + "ocular melanoma" "A melanoma that arises from the structures of the eye or ocular adnexa." "" + "eyelid cancer" "A cancer that involves the eyelid." "" + "balloon cell malignant melanoma" "A rare variant of melanoma with a vertical growth phase. It presents as a nodular or polypoid skin lesion. It is characterized by the presence of nodules which contain large melanoma cells with clear, foamy or finely vacuolated cytoplasm. The prognosis is similar to that of other melanomas matched for depth of invasion." "" + "nodular malignant melanoma" "An aggressive form of melanoma, frequently metastasizing to the lymph nodes. It presents as a papular or nodular raised skin lesion. It comprises approximately 10-15% of melanomas. Morphologically, it often displays an epithelioid appearance." "" + "obsolete skin amelanotic melanoma" "" "true" + "subglottis neoplasm" "A benign or malignant neoplasm that affects the subglottic area of the larynx." "" + "laryngeal neoplasm" "A benign or malignant neoplasm involving the larynx." "" + "laryngeal leiomyoma" "A benign smooth muscle neoplasm arising from the larynx. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern." "" + "leiomyoma" "A well-circumscribed benign smooth muscle neoplasm characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern." "" + "benign laryngeal neoplasm" "A non-metastasizing neoplasm that arises from the larynx. Representative examples include squamous papilloma and hemangioma." "" + "larynx squamous papilloma" "A benign exophytic neoplasm that arises from the larynx, usually the true vocal cords. It is related to human papillomavirus infection and may arise as a single or multiple lesions. It is characterized by the presence of a connective tissue core covered by stratified squamous epithelium. Hoarseness is the presenting symptom. Transformation to carcinoma is rare." "" + "squamous papilloma" "A benign epithelial neoplasm characterized by a papillary growth pattern and a proliferation of neoplastic squamous cells without morphologic evidence of malignancy. Most frequently it arises in the oral cavity, nasopharynx, larynx, esophagus, vagina, and vulva." "" + "syphilitic meningitis" "An infectious meningitis caused by infection with Treponema." "" + "infectious meningitis" "Inflammation of the meninges of the brain and/or spinal cord caused by an infectious agent (viral, bacterial, or fungal). Symptoms include headache, fever, vomiting, neck stiffness, photophobia, confusion, and seizures." "" + "Treponema infectious disease" "An disease caused by infection with Treponema." "" + "bacterial meningitis caused by gram-negative bacteria" "" + "syphilitic encephalitis" "An encephalitis caused by infection with Treponema." "" + "encephalitis" "An acute inflammatory process affecting the brain parenchyma. Causes include viral infections and less frequently bacterial infections, toxins, and immune-mediated processes." "" + "gastric leiomyoma" "A rare benign smooth muscle neoplasm arising from the wall of the stomach. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern. Unlike gastrointestinal stromal tumors, gastric leiomyomas are by definition negative for CD34 and CD117 (C-KIT)." "" + "benign neoplasm of stomach" "A benign neoplasm that involves the stomach." "" + "intracranial abscess" "An abscess that is located in the intracranial space." "" + "central nervous system infectious disorder" "An infectious process that affects the brain and/or spinal cord. Representative examples include encephalitis, poliomyelitis, arachnoiditis, and meningitis." "" + "trypanosomiasis" "Infection with protozoa of the genus trypanosoma." "" + "eyelid degenerative disorder" "A neurodegenerative disease that involves the eyelid." "" + "eyelid disorder" "A disease involving the eyelid." "" + "eye degenerative disorder" "A neurodegenerative disease that involves the eye." "" + "acute hydrops keratoconus" "" + "keratoconus" "A degenerative, structural disorder of the eye, characterized by a cone-shaped protrusion of the cornea. It may lead to visual disturbances." "" + "cerebral artery occlusion" "" + "vascular occlusion disorder" "A disorder characterized by occlusion of blood vessels. It differs from thrombosis in that it can be used to describe any form of blockage, not just one formed by a clot." "" + "cerebrovascular disorder" "A disorder resulting from inadequate blood flow in the vessels that supply the brain. Representative examples include cerebrovascular ischemia, cerebral embolism, and cerebral infarction." "" + "arterial occlusion" "Complete closure of the normally patent lumen of the blood vessels which carry blood away from the heart." "" + "vascular insufficiency disorder" "" + "vein disorder" "A disease involving the vein." "" + "psychologic vaginismus" "Involuntary spasm of the outer muscles of the vagina during penetration that results from a psychological cause." "" + "vaginismus" "Tightness of the vaginal wall during vaginal penetration including sexual intercourse. It is caused by involuntary spasm of the pelvic floor muscles, and results in painful intercourse or failure to have intercourse. It may due to psychological conditions, trauma in the vaginal area, or vaginal infection." "" + "mental disorder" "A disease that has its basis in the disruption of mental process." "" + "physiological sexual disorder" "Physiological disturbances in normal sexual performance in either the male or the female." "" + "xerophthalmia" "Dryness of the eye due to inadequate production of tears. Causes include vitamin A deficiency, Sjogren syndrome, rheumatoid arthritis, systemic lupus erythematosus, and scleroderma." "" + "dry eye syndrome" "A syndrome characterized by dryness of the cornea and conjunctiva. It is usually caused by a deficiency in tear production. Symptoms include a feeling of burning eyes and a possible foreign body presence in the eye." "" + "conjunctival degeneration" "" + "conjunctival disorder" "Any disorder of the conjunctiva." "" + "asthenopia" "Term generally used to describe complaints related to refractive error, ocular muscle imbalance, including pain or aching around the eyes, burning and itchiness of the eyelids, ocular fatigue, and headaches." "" + "thymus lymphoma" "A lymphoma that arises from the thymus. Representative examples include mediastinal (thymic) large B-cell lymphoma and Hodgkin lymphoma." "" + "lymphoma" "A malignant (clonal) proliferation of B- lymphocytes or T- lymphocytes which involves the lymph nodes, bone marrow and/or extranodal sites. This category includes Non-Hodgkin lymphomas and Hodgkin lymphomas." "" + "thymus cancer" "A primary or metastatic malignant neoplasm involving the thymus. This category includes malignant thymomas, thymic lymphomas, primary thymic carcinomas, and metastatic carcinomas from other anatomic sites." "" + "mediastinal malignant lymphoma" "A lymphoma that arises from the mediastinum. Representative examples include mediastinal (thymic) large B-cell lymphoma and Hodgkin lymphoma." "" + "cancer of long bone of lower limb" "A cancer that involves the hindlimb long bone." "" + "cancer affecting bone of limb skeleton" "A cancer that involves the limb bone." "" + "cancer of short bone of lower limb" "" + "Meckel diverticulum cancer" "A cancer involving a Meckel's diverticulum." "" + "ileum cancer" "A malignant neoplasm involving the ileum" "" + "Meckel diverticulum neoplasm" "A neoplasm involving a Meckel's diverticulum." "" + "ileal neoplasm" "A benign or malignant neoplasm that affects the wall of the ileum. Representative examples include adenoma, carcinoma, and lymphoma." "" + "small intestine neoplasm" "A benign or malignant neoplasm that affects the small intestine. Representative examples of benign neoplasms include lipoma and leiomyoma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and sarcoma." "" + "lacrimal passage granuloma" "" + "lacrimal apparatus disorder" "A non-neoplastic or neoplastic disorder that affects the lacrimal apparatus." "" + "neuroretinitis" "Neuroretinitis is an inflammation of the neural retina and optic nerve. Pathology: Direct invasion or autoimmune activation against the optic nerve may cause optic nerve vascular inflammation with secondary inflammation and edema in the nerve fiber layer of the retina." "" + "neuritis" "A neuropathy arising from inflammation of one or more nerves." "" + "retinal nerve fibre layer disorder" "A disease that involves the nerve fiber layer of retina." "" + "optic papillitis" "Swelling of the optic disk, usually in association with increased intracranial pressure, characterized by hyperemia, blurring of the disk margins, microhemorrhages, blind spot enlargement, and engorgement of retinal veins. Chronic papilledema may cause optic atrophy and visual loss. (Miller et al., Clinical Neuro-Ophthalmology, 4th ed, p175)" "" + "malignant hypertensive renal disease" "" + "malignant hypertension" "Severe hypertension that is characterized by rapid onset of extremely high blood pressure." "" + "hypertensive nephropathy" "Kidney damage that results from chronically elevated blood pressure; complications include glomerular damage resulting in proteinuria and hematuria." "" + "genetic hypertension" "An instance of hypertension that is caused by a modification of the individual's genome." "" + "renal hypertension" "Hypertension caused by the kidney's hormonal response to narrowing or occlusion of the renal arteries." "" + "diabetic peripheral angiopathy" "Diabetic angiopathy is a form of angiopathy associated with diabetic complications." "" + "peripheral vascular disease" "Any disorder affecting blood flow through the veins or arteries outside of the heart." "" + "type 2 diabetes mellitus" "A type of diabetes mellitus that is characterized by insulin resistance or desensitization and increased blood glucose levels. This is a chronic disease that can develop gradually over the life of a patient and can be linked to both environmental factors and heredity." "" + "endobronchial lipoma" "A rare benign adipose tissue neoplasm located within the lumen of a bronchus. It is predominantly found in males and usually originates within the fatty tissue between bronchial cartilage. May cause irreversible pulmonary damage distally. Two-thirds of the tumors occur on the right side and most are located on the first three subdivisions of the tracheobronchial tree." "" + "bronchial neoplasm" "Tumors or cancer of the bronchi." "" + "lipoma" "A benign, usually painless, well-circumscribed lipomatous tumor composed of adipose tissue." "" + "benign soft tissue neoplasm" "A non-metastasizing neoplasm that arises from the soft tissue." "" + "lung benign neoplasm" "A non-metastasizing neoplasm that arises from the lung parenchyma or the bronchi. Representative examples include lung adenoma, lung hamartoma, and endobronchial lipoma." "" + "spindle cell lipoma" "A benign circumscribed tumor composed of spindled cells, adipocytes, and collagen bundles. There is no evidence of nuclear hyperchromasia or mitotic activity." "" + "spindle cell neoplasm" "A benign or malignant neoplasm characterized by the presence of neoplastic spindle cells." "" + "esophageal lipoma" "A benign adipose tissue neoplasm of the esophagus. Clinical presentation includes obstruction, dysphagia, regurgitation, vomiting and reflux. It may be associated with aspiration and consecutive respiratory infections." "" + "benign neoplasm of esophagus" "A benign neoplasm that involves the esophagus." "" + "skin lipoma" "A benign or malignant adipose tissue neoplasm of the skin." "" + "liver lipoma" "A rare benign adipose tissue neoplasm of the liver." "" + "liver neoplasm" "A benign or malignant epithelial neoplasm that affects the liver parenchyma and intrahepatic bile ducts. Representative examples of benign epithelial neoplasms include hepatocellular adenoma and intrahepatic bile duct adenoma. Representative examples of malignant epithelial neoplasms include hepatocellular carcinoma and intrahepatic cholangiocarcinoma." "" + "pleomorphic lipoma" "A benign circumscribed tumor characterized by small spindle cells, rounded hyperchromatic cells and multinucleated giant cells with radially arranged nuclei." "" + "conventional lipoma" "A benign well-circumscribed tumor, composed of lobules of mature adipocytes, that arises within subcutaneous tissue, deep soft tissues or on the surface of bones." "" + "kidney lipoma" "A rare benign adipose tissue neoplasm of the kidney. It predominantly affects middle-aged females. It may originate from renal parenchymal fat or fat cells within the renal capsule. Clinical presentation includes hematuria and pain." "" + "kidney benign neoplasm" "A non-metastasizing neoplasm that arises from the kidney. Representative examples include cystic nephroma, metanephric adenoma, oncocytoma, and urothelial papilloma of the renal pelvis." "" + "pleural lipoma" "A benign adipose tissue neoplasm of the pleural cavity. It may be purely intra-thoracic or extend to the chest wall." "" + "benign neoplasm of pleura" "A benign neoplasm that involves the pleura." "" + "breast lipoma" "A benign, mesenchymal neoplasm that arises from the breast. It is surrounded by a thin capsule and composed of mature adipose tissue cells. Atypia is absent." "" + "chest wall lipoma" "A benign adipose tissue neoplasm of the chest wall." "" + "benign neoplasm of chest wall" "A benign neoplasm that involves the chest wall." "" + "gallbladder lipoma" "A benign adipose tissue neoplasm involving the gallbladder wall." "" + "inherited soft tissue tumor" "An instance of mesenchymal cell neoplasm that is caused by an inherited modification of the individual's genome." "" + "benign neoplasm of gallbladder" "A benign neoplasm that involves the gall bladder." "" + "hereditary disorder of connective tissue" "An inherited genetic disorder that affects the connective tissues. Representative examples include Ehlers-Danlos syndrome and Marfan syndrome." "" + "biliary tract neoplasm" "A neoplasm that involves the biliary tract." "" + "external ear lipoma" "A benign adipose tissue neoplasm of the external ear." "" + "external ear neoplasm" "A neoplasm (disease) that involves the external ear." "" + "benign neoplasm of ear" "A benign neoplasm that involves the ear." "" + "axillary lipoma" "A benign adipose tissue neoplasm of the axilla." "" + "benign axillary neoplasm" "A non-metastasizing neoplasm that arises from the structures of the axilla." "" + "lipoma of spermatic cord" "A benign adipose tissue neoplasm of the spermatic cord. This is the most common tumor amongst the benign paratesticular lesions." "" + "paratesticular lipoma" "A rare benign adipose tissue neoplasm of the paratesticular tissues. It is incidentally discovered and presents as a non-tender scrotal mass. It affects patients over a wide age range." "" + "male reproductive system neoplasm" "A benign, borderline, or malignant neoplasm that affects the male reproductive system. Representative examples include benign prostate phyllodes tumor, benign testicular Sertoli cell tumor, prostatic intraepithelial neoplasia, prostate carcinoma, testicular seminoma, and testicular embryonal carcinoma." "" + "chondroid lipoma" "A rare benign adipose tissue neoplasm characterized by nests and cord of abundant univacuolated and multivacuolated lipoblasts and mature adipocytes in a prominent myxoid to hyalinized chondroid matrix admix. It predominantly affects females." "" + "extrahepatic bile duct lipoma" "A rare benign adipose tissue neoplasm of the extrahepatic bile duct." "" + "extrahepatic bile duct neoplasm" "A benign or malignant neoplasm that affects the extrahepatic bile ducts. Representative examples include adenoma and adenocarcinoma." "" + "pinta disease" "An endemic bacterial infection caused by Treponema carateum. It is manifested with chronic cutaneous lesions. The early lesions consist of papules and erythematous plaques. The late lesions consist of hypochromic, achromic, hyperpigmented and atrophic lesions. The late skin lesions may cause destruction of bones and cartilage and produce disfiguring changes." "" + "aortic atherosclerosis" "A atherosclerosis that involves the aorta." "" + "atherosclerosis" "Build-up of fatty material and calcium deposition in the arterial wall resulting in partial or complete occlusion of the arterial lumen." "" + "aortic disorder" "Pathology involving the thoracic, thoracoabdominal, or abdominal aorta (including aneurysms). (ACC)" "" + "Histoplasma pericarditis" "An pericarditis (disease) caused by infection with Histoplasma." "" + "pericarditis" "An inflammatory process affecting the pericardium." "" + "histoplasmosis" "A disease caused by the fungus Histoplasma capsulatum. It primarily affects the lungs but can also occur as a disseminated disease that affects additional organs. The acute respiratory disease has symptoms similar to those of a cold or flu and it usually resolves without treatment in healthy individuals. The disseminated form is generally fatal if untreated." "" + "obsolete Brown's tendon sheath syndrome" "" "true" + "exhibitionism" "A disorder characterized by recurrent sexual urges, fantasies, or behaviors involving the exposure of one's genitals to an unsuspecting stranger." "" + "thalassemia" "An inherited blood disorder characterized by a decreased synthesis of one of the polypeptide chains that form hemoglobin. Anemia results from this abnormal hemoglobin formation." "" + "inherited hemoglobinopathy" "An inherited disorder characterized by structural alterations of a globin chain within the hemoglobin molecule." "" + "hemolytic anemia" "Anemia resulting from the premature destruction of the peripheral blood red cells. It may be congenital or it may be caused by infections, medications, or malignancies." "" + "obsolete ehrlichiosis" "" "true" + "pleurisy" "Inflammation of the pleura. It is usually caused by infections. Chest pain while breathing or coughing is the presenting symptom." "" + "pleural disorder" "A non-neoplastic or neoplastic disorder that affects the pleura. Representative examples include pleural infection, pleural mesothelioma, and pleural solitary fibrous tumor." "" + "serositis" "Inflammation of a serous membrane." "" + "cholesterolosis of gallbladder" "A disorder characterized by a change in the gallbladder wall due to excess cholesterol." "" + "gallbladder disorder" "A disease involving the gall bladder." "" + "discharging ear" "Discharge or drainage of fluid from the ear." "" + "auditory system disorder" "A disease involving the auditory system." "" + "mumps infectious disease" "A contagious viral infection caused by the mumps virus. Symptoms include swollen and tender parotid glands, fever, muscle aches and fatigue. Due to vaccination programs, mumps has become a rare disease." "" + "Paramyxoviridae infectious disease" "Infections with viruses of the family paramyxoviridae. This includes morbillivirus infections; respirovirus infections; pneumovirus infections; henipavirus infections; avulavirus infections; and rubulavirus infections." "" + "acute subendocardial myocardial infarction" "Acute form of subendocardial myocardial infarction." "" + "subendocardial myocardial infarction" "An electrocardiographic finding of an injury in leads corresponding to the anatomic region of the subendocardial layer of the wall of the heart." "" + "acute myocardial infarction" "Necrosis of the myocardium, as a result of interruption of the blood supply to the area. It is characterized by a severe and rapid onset of symptoms that may include chest pain, often radiating to the left arm and left side of the neck, dyspnea, sweating, and palpitations." "" + "obsolete left bundle branch block" "A bundle branch block in which the activation of the left ventricle is delayed." "" "true" + "prostate squamous cell carcinoma" "An invasive prostate carcinoma characterized by the presence of squamous differentiation of the malignant cellular infiltrate. There is no evidence of glandular differentiation." "" + "prostate carcinoma" "A carcinoma that arises from epithelial cells of the prostate gland." "" + "malignant prostate phyllodes tumor" "An unusual malignant tumor that arises from the prostate gland. It is characterized by the presence of glandular elements and a cellular stroma that exhibits mitotic activity and nuclear atypia." "" + "malignant urinary system neoplasm" "A primary or metastatic malignant tumor involving the urinary system. Common tumor types include carcinomas, lymphomas, and sarcomas." "" + "prostate cancer" "A primary or metastatic malignant tumor involving the prostate gland. The vast majority are carcinomas." "" + "prostate phyllodes tumor" "An unusual, biphasic benign or malignant neoplasm that arises from the prostate gland. It is characterized by the presence of an epithelial glandular component and a proliferating stroma." "" + "malignant phyllodes tumor" "A phyllodes tumor with sarcomatous stroma. The sarcomatous component is usually of the fibrosarcomatous type. Liposarcomatous, chondrosarcomatous, osteosarcomatous, or rhabdomyosarcomatous differentiation may also occur in the stroma. It may recur and metastasize following surgical resection. The lung and skeleton are the anatomic sites most frequently involved by metastases." "" + "familial periodic paralysis" "A group of genetic neurological disorders caused by mutations in genes involved in the sodium and calcium channels in nerve cells. It is characterized by episodes of muscle paralysis in which the affected muscles become flaccid and the deep tendon reflexes disappear. Between the episodes the affected muscles usually work normally." "" + "periodic paralysis" "" + "inborn metal metabolism disorder" "An inherited metabolic disorder that involves metabolic disturbances in the processing or distribution of dietary minerals." "" + "metabolic myopathy" "A group of rare inherited disorders characterized by a deficiency of enzymes that are involved in metabolic pathways that affect muscles. The disorders are characterized by muscle dysfunction." "" + "prostate lymphoma" "A rare non-Hodgkin or Hodgkin lymphoma that arises from the prostate gland." "" + "monocular esotropia" "A form of ocular misalignment characterized by an excessive convergence of the visual axes, resulting in a 'cross-eye' appearance. An example of this condition occurs when paralysis of the lateral rectus muscle causes an abnormal inward deviation of one eye on attempted gaze." "" + "esotropia" "A form of strabismus in which one or both eyes are deviated medially." "" + "obsolete parotid disease" "" "true" + "obsolete pneumoconiosis" "" "true" + "mixed mineral dust pneumoconiosis" "Pneumoconiosis caused by the inhalation of mixed mineral dust particles." "" + "pneumoconiosis" "An occupational lung disorder caused by inhalation of dust particles. It is characterized by bilateral interstitial lung infiltrates. Representative examples include asbestosis, silicosis, anthracosis, and talc pneumoconiosis." "" + "baritosis" "A rare type of pneumoconiosis caused by long standing exposure to barium dust. It is characterized by the formation of fine dense lesions in the lung parenchyma. The lesions do not affect the lung function and disappear without treatment after the exposure to barium dust stops." "" + "obsolete pulmonary siderosis" "" "true" + "pneumoconiosis due to talc" "Pneumoconiosis caused by exposure to talc. It is characterized by fibrosis and granulomatous changes in the lung parenchyma. Chest x-rays reveal diffuse lung opacities and pleural abnormalities." "" + "slate pneumoconiosis" "Pneumoconiosis caused by exposure to slate dust." "" + "kaolin pneumoconiosis" "Pneumoconiosis caused by inhalation of kaolin dust." "" + "glaucomatous atrophy of optic disc" "" + "optic atrophy" "A disorder characterized by loss of optic nerve fibers. It may be inherited or acquired. Acquired causes include ischemia, optic nerve neuropathy, glaucoma, trauma, radiation, brain tumors, and multiple sclerosis. It leads to vision disturbances." "" + "glaucoma" "Increased pressure in the eyeball due to obstruction of the outflow of aqueous humor." "" + "chronic meningitis" "Chronic form of meningitis (disease)." "" + "blepharophimosis" "The abnormal narrowness of the palpebral fissure in the horizontal direction caused by the lateral displacement of the medial canthi of the eyelids. (Dorland, 27th ed)" "" + "solitary cyst of breast" "A single, fluid-filled cyst in the breast parenchyma." "" + "breast cyst" "A cystic lesion located in breast tissue." "" + "obsolete natural killer cell leukemia" "" "true" + "obsolete breast fibroadenosis" "" "true" + "obsolete fibrosclerosis of breast" "" "true" + "chronic leukemia" "A slowly progressing leukemia characterized by a clonal (malignant) proliferation of maturing and mature myeloid cells or mature lymphocytes. When the clonal cellular population is composed of myeloid cells, the process is called chronic myelogenous leukemia. When the clonal cellular population is composed of lymphocytes, it is classified as chronic lymphocytic leukemia, hairy cell leukemia, or T-cell large granular lymphocyte leukemia." "" + "leukemia" "A malignant (clonal) hematologic disorder, involving hematopoietic stem cells and characterized by the presence of primitive or atypical myeloid or lymphoid cells in the bone marrow and the blood. Leukemias are classified as acute or chronic based on the degree of cellular differentiation and the predominant cell type present. Leukemia is usually associated with anemia, fever, hemorrhagic episodes, and splenomegaly. Common leukemias include acute myeloid leukemia, chronic myelogenous leukemia, acute lymphoblastic or precursor lymphoblastic leukemia, and chronic lymphocytic leukemia. Treatment is vital to patient survival; untreated, the natural course of acute leukemias is normally measured in weeks or months, while that of chronic leukemias is more often measured in months or years." "" + "eosinophilic meningitis" "Meningitis in which eosinophils predominate in the cerebrospinal fluid." "" + "epididymis cancer" "A primary or metastatic malignant neoplasm that affects the epididymis. Representative examples include primary epididymal adenocarcinoma and metastatic carcinoma to the epididymis arising from another anatomic site." "" + "epididymal neoplasm" "A benign or malignant neoplasm that affects the epididymis. Representative examples include epididymal adenomatoid tumor and epididymal adenocarcinoma." "" + "male reproductive organ cancer" "A primary or metastatic malignant neoplasm involving the male reproductive system. Representative examples include prostate carcinoma, penile carcinoma, testicular seminoma, and testicular embryonal carcinoma." "" + "epididymal adenocarcinoma" "A rare adenocarcinoma that arises from the epididymis. It usually presents as a scrotal mass and may be associated with testicular pain." "" + "obsolete lymphoblastic leukemia" "" "true" + "suppression amblyopia" "A nonspecific term referring to impaired vision. Major subcategories include stimulus deprivation-induced amblyopia and toxic amblyopia. Stimulus deprivation-induced amblyopia is a developmental disorder of the visual cortex. A discrepancy between visual information received by the visual cortex from each eye results in abnormal cortical development. strabismus and refractive errors may cause this condition. Toxic amblyopia is a disorder of the optic nerve which is associated with alcoholism, tobacco smoking, and other toxins and as an adverse effect of the use of some medications." "" + "amblyopia" "Decreased vision that results from abnormal visual development." "" + "ametropic amblyopia" "" + "disuse amblyopia" "" + "prolymphocytic leukemia" "A mature B- or T- cell leukemia with progressive clinical course. It is characterized by the presence of medium-sized lymphocytes with visible nucleoli (prolymphocytes) in the peripheral blood, bone marrow, and spleen." "" + "pneumonic plague" "A plague in which the bacteria have infected the lungs." "" + "plague" "Plague is a severe bacterial infection caused by the gram-negative bacterium Yersinia pestis." "" + "seminal vesicle chronic gonorrhea" "Chronic form of gonococcal seminal vesiculitis." "" + "obsolete bacterial infectious disease" "A infectious disease involving the Bacteria." "" "true" + "gonorrhea" "A common sexually transmitted bacterial infection caused by Neisseria gonorrhoeae. It is transmitted through vaginal, oral, or anal intercourse. Infected individuals may be asymptomatic. Symptoms in males include burning sensation during urination, discharge from the penis, and painful swelling of the testes. Symptoms in females include painful urination, vaginal discharge, and vaginal bleeding between periods. If untreated, the infection may lead to pelvic inflammatory disease." "" + "vesiculitis" "An inflammatory disease involving a pathogenic inflammatory response in the seminal vesicle." "" + "acute pericementitis" "An acute inflammatory process that affects the tissues that surround and support the teeth." "" + "periodontitis" "An acute or chronic inflammatory process that affects the tissues that surround and support the teeth." "" + "Klippel-Feil syndrome" "A congenital, musculoskeletal condition characterized by the fusion of at least two vertebrae of the neck. Common symptoms include a short neck, low hairline at the back of the head, and restricted mobility of the upper spine. This syndrome can cause chronic headaches as well as pain in both the neck and the back.Other features may involve various other body parts or systems. Sometimes, KFS occurs as a feature of another disorder or syndrome, such as Wildervanck syndrome or hemifacial microsomia. In these cases, people have the features of both KFS and the additional disorder. KFS may be caused by mutations in the GDF6 or GDF3 gene and inherited in an autosomal dominant manner; or, it may be caused by mutations in the MEOX1 gene and inherited in an autosomal recessive manner. Treatment is symptomatic and may include medications, surgery, and/or physical therapy." "" + "keratoconus, stable condition" "" + "purulent acute otitis media" "Acute form of suppurative otitis media." "" + "suppurative otitis media" "Inflammation of the middle ear with purulent discharge." "" + "Mooren ulcer" "" + "corneal ulcer" "Area of epithelial tissue loss from corneal surface; associated with inflammatory cells in the cornea and anterior chamber." "" + "mycotic corneal ulcer" "" + "marginal corneal ulcer" "" + "hypopyon ulcer" "" + "hypopyon" "An accumulation of pus in the anterior chamber of the eye." "" + "infectious anterior uveitis" "An infectious disease involving a pathogenic inflammatory response in the anterior uvea." "" + "ring corneal ulcer" "" + "perforated corneal ulcer" "" + "lymphoid system disorder" "A disease or disorder that involves the lymphoid system." "" + "nasopharyngeal disorder" "A non-neoplastic or neoplastic disorder that affects the nasopharynx. Representative examples include nasopharyngitis, angiofibroma, and carcinoma." "" + "dentin caries" "A dental caries that involves the dentine." "" + "dental caries" "The decay of a tooth, in which it becomes softened, discolored, and/or porous." "" + "patellar tendinitis" "A tendinitis that involves the patella." "" + "tendinitis" "Inflammation of a tendon, usually resulting from an overuse injury. It is characterized by swelling of the tendon, tenderness around the inflamed tendon, and pain while moving the affected area of the body." "" + "obsolete diaphragm disease" "" "true" + "esophageal atresia" "A congenital abnormality of the esophagus in which the upper esophagus ends as a blind pouch and does not connect with the lower esophagus; it is often accompanied by a tracheoesophageal fistula. Signs and symptoms in a newborn with this abnormality include excessive salivation, choking, coughing, and the development of cyanosis and respiratory distress when fed." "" + "esophageal disorder" "A non-neoplastic or neoplastic disorder that affects the esophagus. Representative examples of non-neoplastic disorders include esophagitis and esophageal ulcer. Representative examples of neoplastic disorders include carcinomas, lymphomas, and melanomas." "" + "intestinal atresia" "A congenital malformation characterized by the absence of a normal opening in a part of the intestine. It can occur either in the small or the large intestine." "" + "intestinal disorder" "A non-neoplastic or neoplastic disorder that affects the small or large intestine." "" + "imperforate anus" "A congenital birth defect characterized by the absence of a normal anal opening. It may be associated with other congenital abnormalities." "" + "anus disorder" "A non-neoplastic or neoplastic disorder that affects the anal canal or anal margin. Representative examples of non-neoplastic disorders include hemorrhoids and anal ulcer. Representative examples of neoplastic disorders include carcinoma, lymphoma, and melanoma." "" + "isolated anorectal malformation" "Anorectal malformations (ARM) comprise a wide spectrum of malformations involving the distal anus and rectum as well as the urinary and genital tracts, which can affect boys and girls." "" + "obsolete adrenal cortical hypofunction" "" "true" + "orbital granuloma" "A granuloma located on the orbit of the eye." "" + "chronic orbital inflammation" "" + "Dressler syndrome" "A pericarditis characterized by inflammation, occurring after injury, located in pericardium." "" + "malignant otitis externa" "An otitis externa which involves infection of the external ear that has spread to involve the skull bone containing part of the ear canal, the middle ear, and the inner ear. It is caused by the bacteria Pseudomonas. This is common in people with weakened immune systems and in older people with diabetes." "" + "acute otitis externa" "Acute form of otitis externa." "" + "chronic fungal otitis externa" "Chronic form of otomycosis." "" + "acute infection of pinna" "An otitis externa which involves bacterial infections often related to underlying comorbidities as well as trauma. Common sources of trauma include ear piercing, boxing, blunt trauma, burns, bite wounds and iatrogenic insults. The common bacterial pathogens are staphylococcal and streptococcal species." "" + "double pterygium" "" + "pterygium" "A wedge-shaped fibrovascular lesion arising from the bulbar conjunctiva and extending to the cornea. It is caused by chronic exposure to solar ultraviolet radiation, heat, and dust. It may cause severe vision loss. Studies have linked pterygium to neoplastic proliferation and suggest that it may be a stem cell disorder." "" + "conjunctival pterygium" "" + "gastric cancer" "A primary or metastatic malignant neoplasm involving the stomach." "" + "digestive system cancer" "A primary or metastatic malignant neoplasm involving any part of the digestive system." "" + "gastric neoplasm" "A benign or malignant neoplasm involving the stomach." "" + "malignant gastric granular cell tumor" "A metastasizing granular cell tumor that arises from the stomach." "" + "granular cell cancer" "An uncommon granular cell tumor which may metastasize to other anatomic sites. Morphologic characteristics include the presence of spindling neoplastic cells, necrosis, extensive pleomorphism, prominent nucleoli, and increased mitiotic activity." "" + "obsolete gastric fundus cancer" "" "true" + "gastric lymphoma" "An extranodal lymphoma that arises from the stomach with the bulk of the mass located in the stomach. The vast majority of cases are diffuse large B-cell lymphomas and B-cell lymphomas of the mucosa-associated lymphoid tissue." "" + "gastrointestinal lymphoma" "A non-Hodgkin or Hodgkin lymphoma that arises from any part of the digestive system, with the bulk of the disease localized to that site." "" + "microinvasive gastric cancer" "An invasive adenocarcinoma confined to the mucosa or mucosa and submucosa of the gastric wall. The regional lymph nodes may or may not be involved. It usually occurs in the lesser curvature. The 5-year survival rate following resection is between 80 percent and 95 percent, and remains high even when lymph node metastases are present." "" + "gastric adenocarcinoma" "A carcinoma that arises from glandular epithelial cells of the stomach" "" + "pylorus cancer" "A malignant neoplasm involving the pylorus." "" + "pyloric antrum cancer" "A malignant neoplasm involving the pyloric antrum." "" + "cardia cancer" "A malignant neoplasm involving the cardia of stomach." "" + "acute eustachian salpingitis" "Acute form of otosalpingitis." "" + "otosalpingitis" "An inflammatory disease involving a pathogenic inflammatory response in the pharyngotympanic tube." "" + "supine hypotensive syndrome" "A vascular disease that is characterized by severe supine hypotension in late pregnancy, whose clinical presentation ranges from minimal cardiovascular alterations to severe shock, resulting from inferior vena cava compression by gravid uterus." "" + "hypotensive disorder" "Blood pressure that is abnormally low." "" + "late yaws" "Late yaws is the tertiary, non-contagious stage of yaws, endemic tropical treponemal nonvenereal infection. Late yaws is characterized by destructive and deforming lesions of the skin, bones, and joints." "" + "yaws" "An endemic, infectious, nonvenereal disease in humans that presents mainly in children younger than 15 years. The disease occurs primarily in warm, humid, tropical areas of Africa, Asia, South America, and Oceania, among poor rural populations where conditions of overcrowding and poor sanitation prevail. Infection with Treponema pertenue, a subspecies of Treponema pallidum, causes the disease." "" + "cutaneous syphilis" "Cutaneous lesions arising from infection with Treponema pallidum. In the primary stage, 18-21 days following infection, one or more chancres appear. If untreated, the subsequent stages of the disease appear as syphilids. These eruptions are superficial, nondestructive, exanthematic, transient, macular roseolas that may later be maculopapular or papular polymorphous or scaly, pustular, pigmented eruptions.(Arnold, Odom, and James, Andrew's Diseases of the Skin, 8th ed, p409)" "" + "early yaws" "Early yaws includes primary and secondary stages of yaws, endemic tropical treponemal nonvenereal infection: development of initial lesion at inoculation site followed by widespread dissemination of treponemes and generalized secondary granulomatous lesions that may relapse repeatedly." "" + "osteomalacia" "A metabolic bone disease that results from either a deficiency in vitamin D, or an abnormality in the metabolism of vitamin D, or a deficiency of calcium in the diet. The most common symptoms are bone pain and muscle weakness. When it occurs in children it is commonly referred to as rickets. (Diagnostic Surgical Pathology, 3rd ed.) --2003" "" + "obsolete leukodystrophy" "" "true" + "obsolete adrenoleukodystrophy" "" "true" + "mild pre-eclampsia" "A pre-eclampsia characterized by the presence of hypertension without evidence of end-organ damage, in a woman who was normotensive before 20 weeks' gestation." "" + "preeclampsia" "Preeclampsia is a hypertensive disorder of pregnancy that is characterized by new-onset hypertension with proteinuria presenting after 20 weeks of gestation, and depending on mild or severe forms may initially present with severe headache, visual disturbances, and hyperreflexia." "" + "idiopathic progressive polyneuropathy" "" + "polyneuropathy" "A disease or disorder affecting more than one nerve." "" + "chronic tic disorder" "A neurological disorder presenting in childhood that is characterized by either motor or phonic tics, but not both, that occur daily or nearly daily for at least a year and are not attributed to an identifiable cause." "" + "tic disorder" "Disorders characterized by recurrent TICS that may interfere with speech and other activities. Tics are sudden, rapid, nonrhythmic, stereotyped motor movements or vocalizations which may be exacerbated by stress and are generally attenuated during absorbing activities. Tic disorders are distinguished from conditions which feature other types of abnormal movements that may accompany another another condition. (From DSM-IV, 1994)" "" + "steatorrhea" "A finding of an excessive amount of fat in the stool." "" + "glucose intolerance" "The inability to regulate blood glucose levels resulting in hyperglycemia." "" + "glucose metabolism disease" "A metabolic disorder characterized by abnormal blood glucose levels." "" + "glucose-galactose malabsorption" "Glucose-galactose malabsorption (GGM) is a very rare, potentially lethal, genetic metabolic disease characterized by impaired glucose-galactose absorption resulting in severe watery diarrhea and dehydration with onset inthe neonatal period." "" + "hyperglycemia" "Abnormally high level of glucose in the blood." "" + "obsolete short bowel syndrome" "" "true" + "tropical sprue" "A rare disorder of the digestive tract characterized by malabsorption and anemia. It is likely caused by infection leading to small intestinal mucosal injury, bacterial overgrowth and inflammatory changes. It is most prevalent in residents and visitors to tropical and subtropical climates. Clinical signs include anorexia, abdominal bloating, diarrhea and weight loss. Clinical course may progress to deficiencies of folate, vitamin B12 and iron. Prognosis is favorable with nutrient replacement and antibiotic therapy, however relapses are common." "" + "malabsorption syndrome" "A syndrome resulting from the inadequate absorption of nutrients in the small intestine. Symptoms include abdominal pain, bloating, and diarrhea." "" + "pancreatic steatorrhea" "" + "pancreas disorder" "A non-neoplastic or neoplastic disorder that affects the pancreas. Representative examples of non-neoplastic disorders include pancreatitis and pancreatic insufficiency. Representative examples of neoplastic disorders include cystadenomas, carcinomas, lymphomas, and neuroendocrine neoplasms." "" + "acute gonococcal cervicitis" "Acute form of gonococcal cervicitis." "" + "gonococcal cervicitis" "" + "acute cervicitis" "Acute inflammation of the cervix. Clinical manifestations include mucopurulent vaginal discharge and burning sensation." "" + "cervicitis" "An acute or chronic inflammatory process that affects the cervix. Causes include sexually transmitted diseases and bacterial infections. Clinical manifestations include abnormal vaginal bleeding and vaginal discharge." "" + "lymph node neoplasm" "A neoplasm involving a lymph node." "" + "Fanconi renotubular syndrome" "A genetic or acquired disorder characterized by impairment of the function of the proximal tubules of the kidney. It results in decreased reabsorption of electrolytes, glucose, amino acids, and other nutrients." "" + "renal tubular transport disease" "Genetic defects in the selective or non-selective transport functions of the kidney tubules." "" + "renal tubule disorder" "A disease that involves the renal tubule." "" + "primary optic atrophy" "" + "interstitial nephritis" "Inflammation of the renal tubules and supporting tissues of the kidney." "" + "nephritis" "Inflammation of renal tissue." "" + "partial optic atrophy" "" + "schizotypal personality disorder" "A disorder characterized by an enduring pattern of inability to establish close relationships coupled with cognitive or perceptual distortions, odd beliefs and speech, and eccentric behavior and appearance." "" + "personality disorder" "A diverse category of psychiatric disorders characterized by behavior that deviates markedly from the expectations of the individual's culture; this pattern of deviation is pervasive and inflexible and is stable over time. The behavioral pattern negatively interferes with relationships and work." "" + "acute inferoposterior infarction" "" + "acute inferolateral myocardial infarction" "" + "acute anterolateral myocardial infarction" "Acute form of anterolateral myocardial infarction." "" + "anterolateral myocardial infarction" "Myocardial infarction in which the anterior wall of the heart is involved. Anterior wall myocardial infarction is often caused by occlusion of the left anterior descending coronary artery. It can be categorized as anteroseptal or anterolateral wall myocardial infarction." "" + "lipoma of colon" "A benign adipose tissue neoplasm originating in the colon. It is the second most common benign lesion of the colon after benign adenomatous polyps. Older patients are more likely to be affected, and most lesions are located at the right side of large bowel. Colon lipomas may lead to intestinal obstruction." "" + "colorectal lipoma" "A rare benign adipose tissue neoplasm arising from the wall of the colon and rectum." "" + "colon leiomyoma" "A well-circumscribed benign smooth muscle neoplasm arising from the colon. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern." "" + "colorectal leiomyoma" "A well-circumscribed benign smooth muscle neoplasm arising from the colorectal area. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern." "" + "colonic lymphangioma" "A lymphangioma arising from the colon." "" + "lymphangioma" "A benign lesion composed of dilated lymphatic channels. Painless swelling is the usual clinical manifestation." "" + "residual stage of open angle glaucoma" "" + "open-angle glaucoma" "Chronic outflow obstruction of the eye's drainage canals that can lead to increased internal eye pressure and optic nerve damage." "" + "mediastinum neuroblastoma" "A neuroblastoma arising from the mediastinum." "" + "mediastinal neural neoplasm" "A neurogenic tumor that arises from the mediastinum. Neural tumors are the most common tumors that arise from the posterior mediastinum. Representative examples include Schwannoma, neurofibroma, and neuroblastoma." "" + "mediastinal cancer" "A malignant neoplasm involving the mediastinum" "" + "peripheral nervous system cancer" "Malignant growth of cells in the peripheral nervous system (PNS)or Autonomic Nervous System (ANS), without specification as to location" "" + "mediastinum ganglioneuroblastoma" "A ganglioneuroblastoma arising from the mediastinum." "" + "ganglioneuroblastoma" "A neuroblastic tumor characterized by the presence of neuroblastic cells, ganglion cells, and a stroma with Schwannian differentiation constituting more than fifty-percent of the tumor volume. There are two histologic subtypes identified: ganglioneuroblastoma, intermixed and ganglioneuroblastoma, nodular." "" + "peripheral ganglioneuroblastoma" "A ganglioneuroblastoma arising from the peripheral nervous system." "" + "obsolete juvenile glaucoma" "" "true" + "separation anxiety disorder" "An anxiety disorder characterized by recurrent excessive distress due to fear of separation from the home or from major attachment figures; the distress is developmentally inappropriate and causes impairment in social, academic, or other areas of functioning." "" + "anxiety disorder" "A category of psychiatric disorders which are characterized by anxious feelings or fear often accompanied by physical symptoms associated with anxiety." "" + "lactocele" "Single or multiple, milk-containing nodules in the breast. It is caused by obstruction of the breast ducts during lactation. Needle aspiration of the milk is the treatment of choice." "" + "lactation disease" "" + "hypertrophy of breast" "Excessive enlargement of one or both breasts. Causes include pregnancy, obesity, and penicillamine therapy. It may result in neck, back, and shoulder pain." "" + "fat necrosis of breast" "Localized necrosis of the adipose tissue in the breast. Clinically, it may present as a mass. Causes include injury, surgical procedures, and radiation treatment." "" + "obsolete chronic endophthalmitis" "" "true" + "giardiasis" "An infection of the small intestine caused by the flagellated protozoan giardia lamblia. It is spread via contaminated food and water and by direct person-to-person contact." "" + "parasitic intestinal disorder" "Infections of the INTESTINES with PARASITES, commonly involving PARASITIC WORMS. Infections with roundworms (NEMATODE INFECTIONS) and tapeworms (CESTODE INFECTIONS) are also known as HELMINTHIASIS." "" + "toxic diffuse goiter" "" + "hyperthyroidism" "Overactivity of the thyroid gland resulting in overproduction of thyroid hormone and increased metabolic rate. Causes include diffuse hyperplasia of the thyroid gland (Graves' disease), single nodule in the thyroid gland, and thyroiditis. The symptoms are related to the increased metabolic rate and include weight loss, fatigue, heat intolerance, excessive sweating, diarrhea, tachycardia, insomnia, muscle weakness, and tremor." "" + "secondary hypertension" "High blood pressure caused by an underlying medical condition." "" + "obsolete cerebral lipidosis" "" "true" + "broad ligament malignant neoplasm" "A malignant neoplasm involving the broad ligament of uterus." "" + "uterine adnexa cancer" "" + "disorder of uterine broad ligament" "A disease or disorder that involves the broad ligament of uterus." "" + "petrositis" "Inflammation of petrous bone." "" + "osteomyelitis" "An acute or chronic inflammation of the bone and its structures due to infection with pyogenic bacteria." "" + "skull disorder" "A non-neoplastic or neoplastic disorder that affects structures of the skull." "" + "chronic pyelonephritis" "Persistent pyelonephritis." "" + "pyelonephritis" "An inflammatory process affecting the kidney. The cause is most often bacterial, but may also be fungal in nature. Signs and symptoms may include fever, chills, flank pain, painful and frequent urination, cloudy or bloody urine, and confusion." "" + "chronic kidney disease" "Impairment of the renal function secondary to chronic kidney damage persisting for three or more months." "" + "obsolete thrombotic thrombocytopenic purpura" "" "true" + "Fiedler's myocarditis" "" + "myocarditis" "Myocarditis is a condition that is characterized by inflammation of the heart muscle (myocardium). Some affected people have no noticeable symptoms of the condition. When present, signs and symptoms may include chest pain, abnormal heartbeat, shortness of breath, fatigue, signs of infection (i.e. fever, headache, sore throat, diarrhea), and leg swelling. Myocarditis can be caused by a variety of factors including infections (viral, bacterial, parasitic, and fungal), allergic reactions to certain medications, and exposure to certain chemicals. It can also be associated with other inflammatory conditions such as lupus, Wegener's granulomatosis, giant cell arteritis and Takayasu's arteritis. Most cases occur sporadically in people with no family history of the condition. Treatment aims to address the underlying cause of the condition. Medications and rarely, a heart transplant may be needed if the heart muscle becomes weak." "" + "acute myocarditis" "The sudden onset of inflammation of heart muscle with myocellular necrosis; this is generally secondary to an infectious cause, and patients often have a recent history of a flu-like illness." "" + "bacterial myocarditis" "Myocarditis that is caused by an infection with a bacterial agent." "" + "familial polycythemia" "Polycythemia that occurs in groups of related individuals." "" + "polycythemia" "Abnormally high mass or concentration of red blood cells in the blood, either due to an increase in erythropoiesis or a decrease in plasma volume." "" + "mesenteric lymphadenitis" "Inflammation of the mesenteric lymph nodes." "" + "lymphadenitis" "Acute or chronic inflammation of one or more lymph nodes. It is usually caused by an infectious process." "" + "methemoglobinemia" "An inherited or acquired condition characterized by abnormally increased levels of methemoglobin in the blood." "" + "hemoglobinopathy" "" + "Queensland tick typhus" "A spotted fever that has material basis in Rickettsia australis, which is transmitted by ticks (Ixodes holocyclus). The infection has symptom fever, has symptom headache, has symptom myalgia, has symptom maculopapular rash, and has symptom lymphadenopathy." "" + "premature menopause" "Cessation of menstruation before the age of 40. Symptoms include hot flashes, night sweats, mood swings, and decreased sex drive." "" + "ovarian dysfunction" "The inability of the ovaries to function." "" + "primary ovarian failure" "Absent or premature cessation of ovarian function due to a pathologic process originating within the ovaries." "" + "chronic frontal sinusitis" "Inflammation of the frontal sinus that typically lasts beyond eight weeks. It is caused by infections, allergies, and the presence of sinus polyps or a deviated septum. Signs and symptoms include headache, nasal discharge, swelling in the face, dizziness, and breathing difficulties." "" + "frontal sinusitis" "An acute or chronic inflammatory process affecting the mucous membrane of the frontal sinus." "" + "chronic rhinosinusitis" "Chronic form of sinusitis." "" + "sinusitis" "An acute or chronic inflammatory process affecting the mucous membranes of any sinus cavity." "" + "chronic maxillary sinusitis" "Inflammation of the maxillary sinus that typically lasts beyond eight weeks. It is caused by infections, allergies, and the presence of sinus polyps or a deviated septum. Signs and symptoms include headache, nasal discharge, swelling in the face, dizziness, and breathing difficulties." "" + "maxillary sinusitis" "An acute or chronic inflammatory process affecting the mucous membrane of the maxillary sinus." "" + "chronic sphenoidal sinusitis" "Inflammation of the sphenoid sinus that typically lasts beyond eight weeks. It is caused by infections, allergies, and the presence of sinus polyps or a deviated septum. Signs and symptoms include headache, nasal discharge, swelling in the face, dizziness, and breathing difficulties." "" + "sphenoid sinusitis" "An acute or chronic inflammatory process affecting the mucous membrane of the sphenoid sinus." "" + "obsolete filariasis" "" "true" + "acute gonococcal epididymo-orchitis" "Acute form of gonococcal epididymo-orchitis." "" + "gonococcal epididymo-orchitis" "" + "gastric ulcer" "An ulcerated lesion in the mucosal surface of the stomach. It may progress to involve the deeper layers of the gastric wall." "" + "peptic ulcer disease" "A mucosal erosion that occurs in the esophagus, stomach or duodenum. Symptoms can include abdominal pain, nausea and vomiting, and bleeding." "" + "stomach disorder" "A disease involving the stomach." "" + "tibialis tendinitis" "A tendinitis that involves the tibialis." "" + "nasal cavity cancer" "A malignant neoplasm involving the nasal cavity" "" + "nasal cavity neoplasm" "A benign or malignant neoplasm that affects the nasal cavity. Representative examples of benign neoplasms include Schneiderian papilloma and salivary gland-type adenoma. Representative examples of malignant neoplasms include carcinoma and lymphoma." "" + "head and neck cancer" "A primary or metastatic malignant neoplasm affecting the head and neck. Representative examples include oral cavity squamous cell carcinoma, laryngeal squamous cell carcinoma, and salivary gland carcinoma." "" + "nasal cavity olfactory neuroblastoma" "An olfactory neuroblastoma arising in the nasal cavity." "" + "olfactory neuroblastoma" "An olfactory neuroblastoma arising in the paranasal sinus." "" + "nasal cavity lymphoma" "A primary lymphoma that affects the nasal cavity and the bulk of the tumor is in this anatomic area." "" + "obsolete duodenum adenocarcinoma" "" "true" + "sexual sadism disorder" "A disorder characterized by recurrent sexual urges, fantasies, or behaviors involving acts (real, not simulated) in which the psychological or physical suffering of a victim is sexually exciting to the individual." "" + "malignant essential hypertension" "Essential hypertension with rapid progression to severe high blood pressure, papilledema, and renal failure." "" + "essential hypertension" "Hypertension that presents without an identifiable cause." "" + "hypertensive disorder" "Persistently high systemic arterial blood pressure. Based on multiple readings (blood pressure determination), hypertension is currently defined as when systolic pressure is consistently greater than 140 mm Hg or when diastolic pressure is consistently 90 mm Hg or more." "" + "voyeurism" "A disorder characterized by recurrent sexual urges, fantasies, or behaviors involving observing an unsuspecting person who is naked, disrobing, or engaging in sexual activity." "" + "chylocele of tunica vaginalis" "" + "testicular disorder" "A non-neoplastic or neoplastic disorder affecting the testis. Representative examples include torsion, infarction, germ cell tumor, sex cord-stromal tumor, lymphoma, and leukemia." "" + "Murray valley encephalitis" "An disease caused by infection with Murray Valley encephalitis virus." "" + "angiodysplasia of intestine" "A angiodysplasia that involves the intestine." "" + "angiodysplasia" "Acquired degenerative dilation or expansion (ectasia) of normal blood vessels, often associated with aging. They are isolated, tortuous, thin-walled vessels and sources of bleeding. They occur most often in mucosal capillaries of the gastrointestinal tract leading to gastrointestinal hemorrhage and anemia." "" + "sexual masochism disorder" "A disorder characterized by recurrent sexual urges, fantasies, or behaviors involving the act (real, not simulated) of being humiliated, beaten, bound, or otherwise made to suffer." "" + "obsolete Edwards syndrome" "" "true" + "middle ear cholesterol granuloma" "As accumulation of granulation tissue in the middle ear that results from the degeneration of blood and a chronic inflammatory response." "" + "otitis media" "Inflammation of the anatomical structures of the middle ear, which is most often caused by an infectious process. Symptoms include erythema and edema of the tympanic membrane, pain, and possibly fever." "" + "salivary gland disorder" "A disease involving the saliva-secreting gland." "" + "paralytic strabismus" "" + "strabismus" "Strabismus is the intermittent or constant misalignment of an eye so that its line of vision is not pointed at the same object as the other eye. Strabismus is caused by an imbalance in the extraocular muscles which control the positioning of the eyes. Strabismus is normal in newborns but should resolve by the time the baby is 6 months old. In older children with strabismus, the brain may learn to ignore the input from one eye, and this may lead to amblyopia, a potentially permanent decrease in vision in that eye if not corrected." "" + "partial third-nerve palsy" "" + "oculomotor nerve paralysis" "Paralysis of the oculomotor nerve." "" + "total third-nerve palsy" "" + "fourth cranial nerve palsy" "A cranial nerve palsy that involves the trochlear nerve." "" + "cranial nerve palsy" "Injury to any of the cranial nerves or their nuclei in the brain resulting in muscle weakness." "" + "trochlear nerve disorder" "A disease involving the trochlear nerve." "" + "meningocele" "A congenital abnormality in which the meninges protrude through a defect in the spinal column or the cranium." "" + "iliac vein thrombophlebitis" "A thrombophlebitis that involves the iliac vein." "" + "thrombophlebitis" "Inflammation of the veins associated with the presence of a thrombus." "" + "hydrocephalus" "A disorder characterized by an abnormal increase of cerebrospinal fluid in the ventricles of the brain." "" + "benign essential hypertension" "A condition of mild to moderate high blood pressure that has no identifiable cause." "" + "amnestic disorder" "Systematic and extensive loss of memory caused by organic or psychological factors. The loss may be temporary or permanent, and may involve old or recent memories." "" + "cognitive disorder" "A disease affects cognitive processes." "" + "gender dysphoria" "A marked difference between the individual's expressed/experienced gender and the gender others would assign him or her, and it must continue for at least six months. (from DSM-5)" "" + "gender identity disorder" "A disorder characterized by a strong and persistent cross-gender identification (such as stating a desire to be the other sex or frequently passing as the other sex) coupled with persistent discomfort with his or her sex (manifested in adults, for example, as a preoccupation with altering primary and secondary sex characteristics through hormonal manipulation or surgery)." "" + "Siberian tick typhus" "A spotted fever that has material basis in Rickettsia sibirica, which is transmitted by ticks (Dermacentor nuttalli, Dermacentor marginatus and Haemaphysalis concinna). The infection has symptom fever, has symptom eschar, has symptom regional adenopathy, and has symptom maculopapular rash." "" + "gastrojejunal ulcer" "" + "borderline personality disorder" "A disorder characterized by an enduring pattern of unstable self-image and mood together with volatile interpersonal relationships, self-damaging impulsivity, recurrent suicidal threats or gestures and/or self-mutilating behavior." "" + "dependent personality disorder" "A disorder characterized by an enduring pattern of an extreme need to be taken care of together with fear of separation that lead the individual to urgently seek out and submit to another person and allow that person to make decisions that impact all areas of the individual's life." "" + "obsessive-compulsive personality disorder" "A disorder characterized by an enduring pattern of inflexibility, extreme orderliness, and perfectionism which interfere with efficiency and which may manifest in many different contexts, including work and leisure activities, financial matters, and issues of morality or ethics." "" + "multiple personality disorder" "A disorder characterized by the presence of two or more identities with distinct patterns of perception and personality which recurrently take control of the person's behavior; this is accompanied by a retrospective gap in memory of important personal information that far exceeds ordinary forgetfulness. The changes in identity are not due to substance use or to a general medical condition." "" + "dissociative disorder" "A category of psychiatric disorders which are characterized by a disruption in the usually integrated functions of consciousness, memory, identity, and/or perception of the environment." "" + "schizoid personality disorder" "A disorder characterized by an enduring pattern of extreme social detachment and lack of involvement in interpersonal activities, coupled with emotional coldness." "" + "impulse control disorder" "A category of behaviors that can be loosely defined as the failure to resist an impulsive act or behavior that may be harmful to self or others." "" + "paranoid personality disorder" "A disorder characterized by an enduring pattern of behavior based on the pervasive belief that the motives of others are malevolent and that they should not be trusted." "" + "antisocial personality disorder" "A disorder characterized by a pervasive pattern of disregard for and violation of the rights of others that is manifested in childhood or early adolescence. (adapted from DSM-IV)" "" + "tongue disorder" "A disease involving the tongue." "" + "spastic diplegia" "A type of cerebral palsy characterized by spasticity and hypertonia of the lower extremities bilaterally, particularly the legs, hips, and pelvis; this is the most common (70%) form of cerebral palsy." "" + "spastic hemiplegia" "A type of spastic cerebral palsy characterized by increased muscle tone of the arm and leg on the same side of the body." "" + "hemiplegia" "Severe or complete loss of motor function on one side of the body. This condition is usually caused by brain diseases that are localized to the cerebral hemisphere opposite to the side of weakness. Less frequently, brain stem lesions; cervical spinal cord diseases; peripheral nervous system diseases; and other conditions may manifest as hemiplegia. The term hemiparesis (see paresis) refers to mild to moderate weakness involving one side of the body." "" + "spastic monoplegia" "A spastic cerebral palsy that affects only one limb." "" + "palsy" "A general term most often used to describe severe or complete loss of muscle strength due to motor system disease from the level of the cerebral cortex to the muscle fiber. This term may also occasionally refer to a loss of sensory function. (From Adams et al., Principles of Neurology, 6th ed, p45)" "" + "acute salpingo-oophoritis" "Acute form of salpingo-oophoritis." "" + "salpingo-oophoritis" "" + "acute salpingitis" "Acute inflammation of the fallopian tube. It is most often caused by Neisseria gonorrhoeae and Chlamydia trachomatis infections. The infections usually originate in the vagina and ascend to the fallopian tube. Symptoms include abdominal, pelvic, and lower back pain, pain during ovulation and sexual intercourse, fever, nausea, and vomiting. Complications include infertility and ectopic pregnancy." "" + "oophoritis" "Inflammation of the ovary, generally caused by an ascending infection of organisms from the endocervix." "" + "conjunctival vascular disorder" "A disorder of the vasculature of the cornea." "" + "ocular vascular disorder" "A disorder that is caused by pathologic changes in the ocular vasculature." "" + "immature cataract" "A cataract disease in which the cataract contains some transparent protein" "" + "senile cataract" "A cataract with no obvious cause occurring in persons over 50 years old." "" + "lens disorder" "A disease involving the lens of camera-type eye." "" + "anorectal stricture" "" + "pseudopterygium" "" + "pinguecula" "A yellowish thickened lesion on the conjunctiva near the cornea representing a benign degenerative change in the conjunctiva caused by the leakage and deposition of certain blood proteins through the permeable capillaries near the limbus." "" + "bullous keratopathy" "Keratopathy that is characterized by the presence of epithelial bullae." "" + "keratopathy" "Any disorder of the cornea." "" + "corneal edema" "Hazy, swollen cornea." "" + "secondary corneal edema" "" + "idiopathic corneal edema" "" + "contact lens corneal edema" "" + "chronic rapidly progressive glomerulonephritis" "Chronic form of rapidly progressive glomerulonephritis." "" + "rapidly progressive glomerulonephritis" "Inflammation of the glomeruli that is characterized by a rapid loss in renal function with glomerular crescent formation observed on biopsy; it is often seen in patients with concomitant autoimmune disease, like Goodpasture's syndrome or systemic lupus erythematosus." "" + "dissociative amnesia" "A disorder characterized by a retrospective gap in memory of important personal information, usually of a traumatic or stressful nature; the memory loss far exceeds ordinary forgetfulness and is not the result of substance use or the consequence of a medical condition." "" + "depersonalization disorder" "A disorder characterized by persistent or recurrent episodes of feeling detached from one's self (either one's body or one's mental processes), although the sufferer remains aware that this is only a feeling and does not represent reality." "" + "urinary bladder cancer" "A primary or metastatic malignant neoplasm involving the bladder." "" + "esophagus lymphoma" "An extranodal lymphoma that arises from the esophagus with the bulk of the mass located in the esophagus. Dysphagia may be the presenting symptom. The vast majority of cases are diffuse large B-cell lymphomas and B-cell lymphomas of the mucosa-associated lymphoid tissue." "" + "esophageal cancer" "A primary or metastatic malignant neoplasm involving the esophagus." "" + "obsolete esophageal carcinoma" "" "true" + "Brucella suis brucellosis" "An disease or disorder caused by infection with Brucella suis." "" + "brucellosis" "Brucellosis is a bacterial infection that spreads from animals to people via unpasteurized dairy products or by exposure to contaminated animal products or infected animals. Animals that are most commonly infected include sheep, cattle, goats, pigs, and dogs. Brucellosis can cause of range of signs and symptoms, some of which may persist or recur. Initial symptoms may include fever, sweats, malaise, anorexia, headache, fatigue, and/or pain in the muscles, joints, and/or back. Symptoms that may persist or recur include fevers, arthritis, swelling of the testicle and scrotum, swelling of the heart (endocarditis), neurologic symptoms (in up to 5% of cases), chronic fatigue, depression, and/or swelling of the liver or spleen. People who are in jobs or settings that increase exposure to the bacteria are at increased risk for infection. Antibiotics are used to treat brucellosis. Recovery may take a few weeks to several months, and relapses are common. Death from brucellosis is rare, occurring in no more than 2% of cases." "" + "hirudiniasis" "An disease or disorder caused by infection with Hirudinea." "" + "parasitic ectoparasitic infectious disease" "Infestations by parasites which live on, or burrow into, the surface of their host's epidermis. Most ectoparasites are arthropods." "" + "esophageal melanoma" "A melanoma affecting the esophageal wall. Melanoma in the esophagus is more commonly metastatic than primary. Primary melanomas of the esophagus are polypoid and clinically aggressive. (WHO, 2000)" "" + "esophageal neuroendocrine tumor" "A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the esophagus." "" + "digestive system melanoma" "A melanoma that arises from any part of the digestive system." "" + "obsolete chorioretinal scar" "" "true" + "retinal disorder" "Any disease or disorder of the retina." "" + "obsolete rickettsialpox" "" "true" + "Rickettsiaceae infectious disease" "Infections with bacteria of the family rickettsiaceae." "" + "psychologic dyspareunia" "" + "neurological pain disorder" "A nervous system disorder that has pain as a major feature." "" + "qualitative platelet defect" "" + "acquired thrombocytopenia" "An instance of thrombocytopenia that is acquired during the lifetime of the individual." "" + "thrombocytopenia" "A laboratory test result indicating that there is an abnormally small number of platelets in the circulating blood." "" + "dislocation of ear ossicle" "Ossicular chain dislocation is a separation of the middle ear bones. It results in a hearing loss due to sound not being transmitted properly (conductive hearing loss). Ossicular chain dislocation is also called ossicular chain discontinuity." "" + "" "true" + "benign prostatic hyperplasia" "A non-cancerous nodular enlargement of the prostate gland. It is characterized by the presence of epithelial cell nodules, and stromal nodules containing fibrous and smooth muscle elements. It is the most common urologic disorder in men, causing blockage of urine flow." "" + "prostatic cyst" "" + "prostate disorder" "A disease involving the prostate gland." "" + "prolapse of lacrimal gland" "" + "disorder of lacrimal gland" "A disease that involves the lacrimal gland." "" + "esophagus sarcoma" "A malignant soft tissue neoplasm that arises from the esophagus. Representative examples include Kaposi sarcoma, leiomyosarcoma, rhabdomyosarcoma, and synovial sarcoma." "" + "sarcoma" "A usually aggressive malignant neoplasm of the soft tissue or bone. It arises from muscle, fat, fibrous tissue, bone, cartilage, and blood vessels. Sarcomas occur in both children and adults. The prognosis depends largely on the degree of differentiation (grade) of the neoplasm. Representative subtypes are liposarcoma, leiomyosarcoma, osteosarcoma, and chondrosarcoma." "" + "soft tissue sarcoma" "A malignant neoplasm arising from muscle tissue, adipose tissue, blood vessels, fibrous tissue, or other supportive tissues excluding the bones." "" + "hypersecretion glaucoma" "" + "aqueous misdirection" "" + "neonatal respiratory failure" "" + "acute respiratory failure" "Life-threatening respiratory failure that develops rapidly. Causes include injury, sepsis, drug overdose, and pancreatitis. It manifests with dyspnea and cyanosis and may lead to cardiovascular shock." "" + "respiratory failure" "The significant impairment of gas exchange within the lungs resulting in hypoxia, hypercarbia, or both, to the extent that organ tissue perfusion is severely compromised. Causes include chronic obstructive pulmonary disease, asthma, emphysema, acute respiratory distress syndrome, pneumonia, pulmonary edema, pneumothorax, and congestive heart failure. Treatment requires intubation and mechanical ventilation until the time the lungs recover sufficient function." "" + "common wart" "A wart caused by human papillomavirus. It can appear anywhere on the skin." "" + "benign epithelial skin neoplasm" "A form of epithelial skin neoplasm without malignant characteristics." "" + "enophthalmos" "Abnormal recession of the eyeball within the eye socket." "" + "disease of orbital part of eye adnexa" "Diseases of the bony orbit and contents except the eyeball." "" + "total internal ophthalmoplegia" "" + "pupil disorder" "A disease involving the pupil." "" + "non-suppurative otitis media" "A otitis media which involves transudation of fluid in the middle ear without pus formation." "" + "serous glue ear" "Chronic form of serous otitis media." "" + "serous otitis media" "" + "chronic non-suppurative otitis media" "Chronic form of non-suppurative otitis media." "" + "acute conjunctivitis" "Acute inflammation of the conjunctiva." "" + "conjunctivitis" "Inflammation of the conjunctiva of the eye." "" + "allescheriosis" "A primary systemic mycosis that results in systemic fungal infection, has material basis in Pseudallescheria boydii, which results in formation of abscesses." "" + "pulp degeneration" "Deterioration of the normal pulp tissue." "" + "dental pulp disorder" "A disease involving the dental pulp." "" + "pseudomembranous conjunctivitis" "Conjunctivitis that is characterized by formation of a pseudomembrane." "" + "bacterial conjunctivitis" "Inflammation of the conjunctiva caused by a variety of bacterial agents." "" + "acute laryngopharyngitis" "An upper respiratory tract disease which involves inflammation of both larynx and pharynx." "" + "serous conjunctivitis except viral" "" + "hypoparathyroidism" "Hypoparathyroidism is is an endocrine disorder in which the parathyroid glands in the neck do not produce enough parathyroid hormone (PTH). Common signs and symptoms includeabdominal pain, brittle nails, cataracts, dry hair and skin,muscle cramps,tetany, pain in the face, legs, and feet, seizures, tingling sensation,and weakened tooth enamel (in children). It may be caused byinjury to the parathyroid glands (e.g., during surgery). Other causes, include low blood magnesium levels, a side effect of radioactive iodine treatment for hyperthyroidism, metabolic alkalosis, DiGeorge syndrome, and type I polyglandular autoimmune syndrome. The goal of treatment is to restore the calcium and mineral balance in the body." "" + "parathyroid gland disorder" "A disease involving the parathyroid gland." "" + "esophageal varices" "Abnormally dilated veins of the esophagus." "" + "varicose disease" "A vascular disease characterized by the presence of enlarged and tortuous veins." "" + "congenital T-cell immunodeficiency" "A broad classification of inherited disorders presenting at birth that affect the cell-mediated aspect of the immune response. Circulating numbers of T lymphocytes are decreased or ineffective." "" + "T-cell immunodeficiency" "A broad classification of disorders that affect the cell-mediated aspect of the immune response. Circulating numbers of T lymphocytes are decreased or ineffective." "" + "primary immunodeficiency disease" "A disorder in which the immune system is unable to mount an adequate immune response." "" + "Angelucci syndrome" "Atopic conjunctivitis that is of relatively short duration and that has a rapid onset." "" + "atopic conjunctivitis" "Conjunctivitis due to hypersensitivity to various allergens." "" + "opioid abuse" "A substance abuse that involves the recurring use of opioid drugs despite negative consequences." "" + "substance abuse" "The use of a drug for a reason other than which it was intended or in a manner or in quantities other than directed." "" + "acute contagious conjunctivitis" "Acute inflammation of the conjunctiva characterized by pink or red color in the eyes." "" + "chronic tympanitis" "Chronic form of tympanitis." "" + "tympanitis" "An inflammatory disease involving a pathogenic inflammatory response in the tympanic membrane." "" + "chronic otitis media" "Chronic form of otitis media (disease)." "" + "conjunctival folliculosis" "" + "small intestine diverticulitis" "A diverticulitis that involves the small intestine." "" + "diverticulitis" "An infection that develops in the diverticula of the intestinal tract. Signs and symptoms include abdominal pain, fever, and leukocytosis." "" + "small intestine disorder" "A disease that involves the small intestine." "" + "acute orbital inflammation" "" + "orbital periostitis" "" + "periostitis" "Inflammation of the periosteum. The condition is generally chronic, and is marked by tenderness and swelling of the bone and an aching pain. Acute periostitis is due to infection, is characterized by diffuse suppuration, severe pain, and constitutional symptoms, and usually results in necrosis. (Dorland, 27th ed)" "" + "orbital osteomyelitis" "" + "orbital tenonitis" "" + "adhesive otitis media" "An auditory system disease that is characterized by a thin retracted ear drum becomes sucked into the middle-ear space and stuck (i.e., adherent) to the ossicles and other bones of the middle ear." "" + "appendix cancer" "A malignant neoplasm involving the vermiform appendix" "" + "appendiceal neoplasm" "A benign or malignant neoplasm involving the appendix." "" + "cecum cancer" "A malignant neoplasm involving the caecum" "" + "disorder of appendix" "A disease or disorder that involves the vermiform appendix." "" + "appendix lymphoma" "A lymphoma arising from the appendix. The majority of lymphomas affecting the appendix represent disease extension from the intestinal wall; primary lymphomas of the appendix are rare." "" + "cecum lymphoma" "An extranodal lymphoma that arises from the cecum. The majority are B-cell non-Hodgkin lymphomas." "" + "polycythemia neonatorum" "A condition in which the red blood cell level is greater than established reference ranges in a newborn." "" + "anemia of prematurity" "A blood disorder characterized by low hemoglobin levels in premature neonates that usually spontaneously resolves within 3-6 months post birth. A combination of factors including the transition from the liver to the bone marrow for erythropoiesis in a neonate, blood loss experienced during delivery, the shortened life span of fetal blood cells, and an acclimation to a relatively hyperoxic environment outside the womb can predispose a neonate to this condition." "" + "neonatal anemia" "The mildest form of erythroblastosis fetalis in which anemia is the chief manifestation." "" + "transient neonatal neutropenia" "" + "neutropenia" "A decrease in the number of neutrophils found in the blood." "" + "disseminated intravascular coagulation in newborn" "A clotting condition characterized as a disruption in the homeostatic balance of the coagulation and fibrinolytic systems presenting as a pathological activation of coagulation mechanisms leading to the formation of small clots inside the blood vessels throughout the body of the newborn." "" + "thrombophilia" "A condition characterized by an abnormally high level of thrombi. Causes include thrombotic thrombocytopenic purpura, disseminated intravascular coagulation, bone marrow disorders, and antiphospholipid antibody syndrome." "" + "vitamin K deficiency hemorrhagic disease" "Deficiency of vitamin K. It may lead to bleeding, manifested with ecchymoses, petechiae, and hematomas. In infants it may cause hemorrhagic disease of newborn with intracranial and retroperitoneal bleeding." "" + "social phobia" "An anxiety disorder characterized by an intense, irrational fear of one or more social or performance situations in which the individual believes that he or she will be scrutinized by others. Exposure to social situations immediately provokes an anxiety response. In adults, the social phobia is recognized as excessive or unreasonable." "" + "phobic disorder" "An anxiety disorder characterized by an intense, irrational fear of an object, activity, or situation. The individual seeks to avoid the object, activity, or situation. In adults, the individual recognizes that the fear is excessive or unreasonable." "" + "obsolete rabies" "" "true" + "trachoma" "A chronic infection of the conjunctiva and cornea caused by chlamydia trachomatis." "" + "chlamydia trachomatis infectious disease" "An infection that is caused by Chlamydia trachomatis." "" + "keratomalacia" "An eye disorder that results from vitamin A deficiency, with basis in disruption of maintenance of the specialized epithelial surfaces, leading to atrophic changes in the normal mucosal surface, with loss of goblet cells, and replacement of the normal epithelium by an inappropriate keratinized stratified squamous epithelium. In addition, the substantia propria of the cornea breaks down and liquefies, resulting in keratomalacia." "" + "corneal degeneration" "" + "chronic apical periodontitis" "Chronic form of periapical periodontitis." "" + "periapical periodontitis" "Inflammation of the periapical tissue. It includes general, unspecified, or acute nonsuppurative inflammation. Chronic nonsuppurative inflammation is periapical granuloma. Suppurative inflammation is periapical abscess." "" + "chronic periodontitis" "A chronic inflammatory process that affects the tissues that surround and support the teeth." "" + "Plummer disease" "Nodular enlargement of the thyroid gland associated with hyperthyroidism." "" + "obsolete solar retinopathy" "" "true" + "obsolete peripheral scars of retina" "" "true" + "ventilation pneumonitis" "An extrinsic allergic alveolitis caused by inhalation of antigens from thermophilic actinomycetes species growing in air conditioners and humidifiers. Fungi like Aureobasidium sp and Candida albicans that survive in the contaminated water in humidifiers and air conditioners are also known to cause the disease." "" + "extrinsic allergic alveolitis" "An inflammatory interstitial lung disease caused by hypersensitivity reaction to inhalation or ingestion of antigens. The antigens are usually related to the patient's occupation. It can present as an acute illness with flu-like symptoms, subacute with repeated episodes of pneumonia, or chronic with dyspnea and productive cough. The majority of patients recover following the cessation of the exposure to the antigen that causes the disease. Chronic exposure may eventually progress to interstitial lung fibrosis." "" + "arteriovenous hemangioma/malformation" "A benign vascular lesion characterized by the presence of a complex network of communicating arterial and venous vascular structures." "" + "retinal microaneurysm" "" + "retinal vascular disorder" "Retinal damage resulting from diminished blood flow/oxygenation due to abnormalities of the retinal vessels. Causes include hypertension, diabetes, thrombosis, embolism, and hemorrhage." "" + "vertebral artery occlusion" "" + "occlusion precerebral artery" "" + "pituitary gland infarction" "Ischemic necrosis of the pituitary gland." "" + "necrosis of pituitary" "Ischemic or hemorrhagic necrosis of the pituitary gland." "" + "cercarial dermatitis" "An unusual presentation of schistosomiasis characterized by a pruritic papular rash in the perigenital or periumbilical area due to an allergic reaction to schistosoma eggs deposited in the skin." "" + "schistosomiasis" "An infectious disease caused by parasitic trematodes of the genus Schistosoma that colonize human blood vessels and release eggs that can cause granulomatous reactions leading to acute (swimmer's itch or acute schistosomiasis syndrome) or chronic disease. Depending on where the eggs lodge, manifestations of chronic schistosomiasis can include diarrhea, abdominal pain, loss of appetite, anemia (intestines), hepatosplenism, periportal fibrosis with portal hypertension (liver), urogenital inflammation and scarring, hematuria and dysuria (genitourinary system). Other patients may be asymptomatic." "" + "skin infection" "An inflammatory process affecting the skin, caused by bacteria, viruses, parasites, or fungi. Examples of bacterial infection include carbuncles, furuncles, impetigo, erysipelas, and abscesses. Examples of viral infection include shingles, warts, molluscum contagiosum, and pityriasis rosea. Examples of parasitic infection include scabies and lice. Examples of fungal infection include athlete's foot, yeast infection, and ringworm." "" + "parasitic skin disorder" "Skin diseases caused by ARTHROPODS; HELMINTHS; or other parasites." "" + "Mobitz type II atrioventricular block" "A disorder characterized by an electrocardiographic finding of intermittent failure of atrial electrical impulse conduction to the ventricles, characterized by a relatively constant PR interval prior to the block of an atrial impulse. (CDISC)" "" + "African histoplasmosis" "An disease or disorder caused by infection with Histoplasma capsulatum var. duboisii." "" + "Histoplasma capsulatum infectious disease" "An disease or disorder caused by infection with Histoplasma capsulatum." "" + "histoplasmosis retinitis" "An retinitis caused by infection with Histoplasma capsulatum." "" + "fungal infection of eye" "Infection by a variety of fungi, usually through four possible mechanisms: superficial infection producing conjunctivitis, keratitis, or lacrimal obstruction; extension of infection from neighboring structures - skin, paranasal sinuses, nasopharynx; direct introduction during surgery or accidental penetrating trauma; or via the blood or lymphatic routes in patients with underlying mycoses." "" + "obsolete Kyasanur forest disease" "" "true" + "schizophreniform disorder" "A disorder that differs from schizophrenia specifically in total duration (schizophreniform disorder lasts at least 1 month but less than 6 months whereas schizophrenia lasts at least 6 months); schizophreniform disorder also typically causes less impairment in the individual's social and occupational functioning." "" + "psychotic disorder" "An abnormal condition of the mind that involves a loss of contact with reality. People experiencing psychosis may exhibit personality changes and thought disorder. Depending on its severity, this may be accompanied by unusual or bizarre behavior, as well as difficulty with social interaction and impairment in carrying out daily life activities." "" + "erysipelas" "An infection of the upper layers of the skin caused by species of streptococcus. Erysipelas results in a fiery red rash with raised edges that can easily be distinguished from the skin around it. The affected skin may be warm to the touch." "" + "streptococcal infection" "Any of the several infectious disorders caused by members of streptococcus, a genus of gram positive bacteria belonging to the family Streptococcaceae. Streptococcal infections are classified into Groups A, B, C, D and G." "" + "dermatitis" "An inflammatory process affecting the skin. Signs include red rash, itching, and blister formation. Representative examples are contact dermatitis, atopic dermatitis, and seborrheic dermatitis." "" + "obsolete Lemierre syndrome" "" "true" + "gingival recession" "A loss of gum tissue resulting in an exposure of the roots of the teeth." "" + "gingival disorder" "A disease involving the gingiva." "" + "scleral disorder" "A disorder affecting the sclera. Examples include inflammatory processes (e.g., scleritis and episcleritis), and degenerative processes. Primary tumors of the sclera are extremely rare." "" + "stone in bladder diverticulum" "" + "bladder calculus" "A concretion in the urinary bladder." "" + "bladder diverticulum" "" + "lens subluxation" "A partial dislocation of the lens of the eye." "" + "functional diarrhea" "" + "megacolon" "An abnormal dilation of the colon not due to obstruction." "" + "anal spasm" "" + "spinal meningioma" "Spinal meningioma isa rare type of spinal cord cancer. The spinal cord is part of the central nervous system. This tumor often affects middle-aged women. Tumors of the spinal cord can be either primary or arise from other primary tumors (metastatic), and are typically slow growing. The initial signs and symptoms include headacheand recent onset of seizures. Other features are motor deficits, sensory deficits, pain, and sphincter dysfunction. The thoracic spine (middle back) is the most common site, followed by the cervical spine (neck). These tumors are rarely seen in the lumbar region (lower back). T he only proven risk factor in the development of meningioma is exposure to ionizing radiation. Also, patients with neurofibromatosis type 2 are at increased risk of developing meningioma. Surgery is the treatment of choice and complete tumor removal is reached in the vast majority of patients. The prognosis after surgical resection is excellent." "" + "intraspinal meningioma" "A meningioma that arises from the spinal meninges." "" + "spinal cord neoplasm" "A neoplasm (disease) that involves the spinal cord." "" + "expressive language disorder" "A disorder characterized by an impairment in the development of an individual's expressive language which is in contrast to his/her nonverbal intellect and receptive language development. The impairment may be acquired (i.e., due to a brain lesion or head trauma) or developmental (i.e., no known neurological insult)." "" + "cerebral arteritis" "An inflammatory disease involving a pathogenic inflammatory response in the cerebral artery." "" + "central nervous system vasculitis" "Vasculitis affecting the blood vessels of the brain and/or spinal cord." "" + "arteritis" "An inflammatory process affecting an artery." "" + "obsolete adult respiratory distress syndrome" "A syndrome characterized by progressive life-threatening RESPIRATORY INSUFFICIENCY in the absence of known LUNG DISEASES, usually following a systemic insult such as surgery or major TRAUMA." "" "true" + "spinal cord cancer" "A primary or metastatic malignant neoplasm affecting the spinal cord. Representative examples include lymphoma, melanoma, and sarcoma." "" + "choroiditis" "An inflammatory process that affects the choroid." "" + "optic choroid disorder" "A disease involving the optic choroid." "" + "posterior uveitis" "Inflammation of the choroid as well as the retina and vitreous body. Some form of visual disturbance is usually present. The most important characteristics of posterior uveitis are vitreous opacities, choroiditis, and chorioretinitis." "" + "vasculitis" "Vasculitis represents a clinically heterogenous group of diseases of multifactorial etiology characterized by inflammation of either large-sized vessels (large-vessel vasculitis, e.g. Giant-cell arteritis and Takayasu arteritis), medium-sized vessels (medium-vessel vasculitis e.g. polyarteritis nodosa and Kawasaki disease), or small-sized vessels (small-vessel vasculitis, e.g. granulomatosis with polyangiitis, microscopic polyangiitis, immunoglobulin A vasculitis, and cutaneous leukocytoclastic angiitis). Vasculitis occurs at any age, may be acute or chronic, and manifests with general symptoms such as fever, weight loss and fatigue, as well as more specific clinical signs depending on the type of vessels and organs affected. The degree of severity is variable, ranging from life or sight threatening disease (e.g. BehC'et disease) to relatively minor skin disease." "" + "alternating exotropia" "A form of ocular misalignment where the visual axes diverge inappropriately. For example, medial rectus muscle weakness may produce this condition as the affected eye will deviate laterally upon attempted forward gaze. An exotropia occurs due to the relatively unopposed force exerted on the eye by the lateral rectus muscle, which pulls the eye in an outward direction." "" + "exotropia" "A form of strabismus in which the eyes are deviated laterally." "" + "fallopian tube endometriosis" "Endometriosis that affects the fallopian tube. Symptoms include infertility, pelvic pain, painful menstruation, and painful intercourse." "" + "endometriosis" "The growth of functional endometrial tissue in anatomic sites outside the uterine body. It most often occurs in the pelvic organs." "" + "fallopian tube disorder" "A disease involving the fallopian tube." "" + "endosalpingiosis" "A benign pathologic process characterized by the transformation of the mesothelium into fallopian tube epithelium. It occurs in the peritoneum and may affect the serosa surface of the uterus and the adnexa. It may be asymptomatic or present as pelvic pain." "" + "endometriosis of intestine" "Endometriosis that affects the intesines." "" + "endometriosis of pelvic peritoneum" "" + "disorder of peritoneum" "A non-neoplastic or neoplastic disorder that affects the peritoneal cavity. Representative examples of non-neoplastic disorders include peritonitis and panniculitis. Representative examples of neoplastic disorders include adenomatoid tumor, primary peritoneal carcinoma, metastatic carcinoma to the peritoneum, and malignant mesothelioma." "" + "endometriosis in cutaneous scar" "" + "endometriosis of rectovaginal septum and vagina" "Endometriosis that affects the vagina. It is characterized by the presence of endometrial stroma with or without endometrial-type glands in the vagina." "" + "obsolete endometriosis of ovary" "" "true" + "allergic cutaneous vasculitis" "Inflammation of the small vessels of the skin that is mediated by the immune system." "" + "atopic eczema" "A chronic inflammatory genetically determined disease of the skin marked by increased ability to form reagin (IgE), with increased susceptibility to allergic rhinitis and asthma, and hereditary disposition to a lowered threshold for pruritus. It is manifested by lichenification, excoriation, and crusting, mainly on the flexural surfaces of the elbow and knee. In infants it is known as infantile eczema." "" + "hypersensitivity vasculitis" "A small vessel vasculitis affecting the skin and/or internal organs. It is characterized by the presence of neutrophils and fibrinoid necrosis in small arteries and venules. It may be idiopathic or the result of drug treatment, infections, food intake, collagen vascular disorders, inflammatory bowel disease, or cancer." "" + "cutaneous vasculitis" "Inflammation of the blood vessel wall characterized by palpable purpura." "" + "brain compression" "" + "autonomic nervous system disorder" "A disease involving the autonomic nervous system." "" + "autonomic neuropathy" "An inherited or acquired peripheral neuropathy affecting the autonomic nervous system. It results in disruption of the involuntary body functions. Inherited causes include Fabry disease and porphyrias. Acquired causes include diabetes, uremia, hepatic disorders, vitamin deficiencies, toxins, and drug toxicities." "" + "subglottis cancer" "A malignant neoplasm that affects the subglottic area of the larynx. The vast majority of cases are squamous cell carcinomas." "" + "larynx cancer" "A primary or metastatic malignant neoplasm involving the larynx. The majority are carcinomas." "" + "Horner syndrome" "Horner's syndrome is a rare condition characterized by miosis (constriction of thepupil), ptosis (drooping of the upper eyelid), and anhidrosis (absence of sweating of the face). It iscaused by damage to the sympathetic nerves of the face. The underlying causes of Horner's syndrome vary greatly and may include a tumor, stroke, or other damage to a part of the brain called the brain stem ; injury to the carotid artery ;and trauma to the brachial plexus. In rare cases, Horner's syndrome is congenital (present from birth) and associated with a lack of pigmentation of the iris (colored part of the eye). Treatment of Horner's syndrome depends on the underlying cause." "" + "idiopathic peripheral autonomic neuropathy" "" + "acquired night blindness" "An instance of night blindness that is acquired during the lifetime of the individual." "" + "night blindness" "Inability to see clearly in dim light." "" + "cardiac tamponade" "Acute compression of the heart caused by increased intrapericardial pressure due to the collection of blood or fluid in the pericardium from rupture of the heart, penetrating trauma, or progressive effusion." "" + "pericardial effusion" "Fluid collection within the pericardial sac, usually due to inflammation." "" + "congenital mitral valve insufficiency" "Dysfunction of the mitral valve characterized by incomplete valve closure." "" + "mitral valve disorder" "A disease involving the mitral valve." "" + "diabetic autonomic neuropathy" "Autonomic neuropathy that is caused by diabetes mellitus." "" + "diabetic neuropathy" "A chronic, pathological complication associated with diabetes mellitus, where nerve damages are incurred due to diabetic microvascular injury involving small blood vessels that supply these nerves, resulting in peripheral and/or autonomic nerve dysfunction." "" + "rumination disorder" "Rumination disorder is the backward flow of recently eaten food from the stomach to the mouth. The food is then re-chewed and swallowed or spat out. A non-purposeful contraction of stomach muscles is involved in rumination. It may be initially triggered by a viral illness, emotional distress, or physical injury. In many cases, no underlying trigger is identified. Behavioral therapy is the mainstay of treatment." "" + "eating disorder" "A broad group of psychological disorders with abnormal eating behaviors leading to physiological effects from overeating or insufficient food intake." "" + "hypertensive heart disease" "Abnormal enlargement of the heart resulting from long-standing hypertension." "" + "abnormal pupillary function" "" + "benign hypertensive renal disease" "" + "laryngostenosis" "Narrowing of the laryngeal airway." "" + "recurrent corneal erosion" "" + "corneal abscess" "An abscess of the cornea." "" + "deep keratitis" "" + "corneal infection" "A viral or bacterial infectious process affecting the cornea. Symptoms include pain and redness in the eye, photophobia and eye watering." "" + "corneal deposit" "" + "third cranial nerve disorder" "A disease involving the oculomotor nerve." "" + "neuro-ophthalmological disease" "" + "Bowman's membrane folds or rupture" "" + "obsolete Chandler syndrome" "" "true" + "acute serous otitis media" "A acute transudative otitis media with thin, watery and sterile effusion." "" + "acute transudative otitis media" "Acute form of non-suppurative otitis media." "" + "acute allergic serous otitis media" "A acute serous otitis media caused by an allergen." "" + "allergic otitis media" "A otitis media (disease) with a basis in a pathological type I hypersensitivity reaction." "" + "chondrocalcinosis" "An acute episode of pain, swelling, and redness, sometimes associated with fever. It is caused by the deposition of calcium pyrophosphate crystals in the joints." "" + "arthritic joint disease" "An inflammatory process affecting a joint. Causes include infection, autoimmune processes, degenerative processes, and trauma. Signs and symptoms may include swelling around the affected joint and pain." "" + "neurocirculatory asthenia" "A clinical syndrome characterized by palpitation, shortness of breath, labored breathing, subjective complaints of effort and discomfort, all following slight physical exertion. Other symptoms may be dizziness, tremulousness, sweating, and insomnia. Neurocirculatory asthenia is most typically seen as a form of anxiety disorder." "" + "streptococcal meningitis" "An infectious meningitis caused by infection with Streptococcus." "" + "phlyctenulosis" "" + "keratoconjunctivitis" "Inflammation of both the cornea and the conjunctiva." "" + "functional gastric disease" "" + "bladder lateral wall cancer" "" + "ring staphyloma" "" + "scleral staphyloma" "" + "pericardium cancer" "A malignant neoplasm involving the pericardium." "" + "heart cancer" "A malignant neoplasm involving the heart" "" + "neoplasm of pericardium" "A neoplasm (disease) that involves the pericardium." "" + "infant gynecomastia" "Transient bilateral swelling of breast tissue in a neonate that results from the waning influence of maternal estrogen." "" + "gynecomastia" "Development of breast tissue in males." "" + "hyperandrogenism" "A condition caused by the excessive secretion of androgens from the adrenal cortex; the ovaries; or the testes. The clinical significance in males is negligible. In women, the common manifestations are hirsutism and virilism as seen in patients with polycystic ovary syndrome and adrenocortical hyperfunction." "" + "difference of sexual differentiation" "A congenital disorder characterized by abnormalities in the development of the sexual characteristics." "" + "acne" "An inflammatory process of the sebaceous glands which is characterized by comedones, nodules, papules and/or pustules on the skin." "" + "penile cancer" "A primary or metastatic malignant neoplasm that affects the penis. Representative examples include penile carcinoma and penile sarcoma." "" + "penile neoplasm" "A benign, borderline, or malignant neoplasm that affects the penis. Representative examples include penile hemangioma, penile intraepithelial neoplasia, and penile carcinoma." "" + "dental pulp necrosis" "Death of pulp tissue with or without bacterial invasion. When the necrosis is due to ischemia with superimposed bacterial infection, it is referred to as pulp gangrene. When the necrosis is non-bacterial in origin, it is called pulp mummification." "" + "pelvic muscle wasting" "" + "prolapse of female genital organ" "" + "thyroid hormone resistance syndrome" "An inherited autosomal recessive trait, characterized by peripheral resistance to thyroid hormones and the resulting elevation in serum levels of thyroxine and triiodothyronine." "" + "inherited thyroid metabolism disease" "An acquired metabolic disease that is has its basis in the disruption of thyroid hormone metabolic process." "" + "hyperthyroxinemia" "Abnormally elevated thyroxine level in the blood." "" + "hypothyroidism" "Abnormally low levels of thyroid hormone." "" + "accommodative spasm" "" + "presbyopia" "The normal decreasing elasticity of the crystalline lens that leads to loss of accommodation." "" + "conjunctival deposit" "" + "palindromic rheumatism" "A syndrome that involves sudden and rapidly developing attacks of arthritis with a remission period that results in no joint damage or symptoms." "" + "hydrarthrosis" "Accumulation of watery fluid in the cavity of a joint. (Dorland, 27th ed)" "" + "rheumatic disorder" "Inflammatory and degenerative diseases of connective tissue structures, such as arthritis." "" + "obsolete Patau syndrome" "" "true" + "hypertrichosis of eyelid" "A hypertrichosis (disease) that involves the eyelid." "" + "hypertrichosis" "Excessive hair growth anywhere on the body." "" + "hypotrichosis of eyelid" "A hypotrichosis that involves the eyelid." "" + "hypotrichosis" "A congenital condition, usually due to genetic aberrations, that is characterized by a lack of hair growth on the head and/or body." "" + "familial hyperlipidemia" "An instance of hyperlipidemia (disease) that is caused by an inherited modification of the individual's genome." "" + "hyperlipidemia" "" + "inflamed seborrheic keratosis" "" + "seborrheic keratosis" "A common benign skin neoplasm usually affecting older individuals. The lesions usually are multiple and arise in the face, chest, and shoulders. They appear as black or brown, slightly elevated skin lesions." "" + "acute apical periodontitis" "" + "portal vein thrombosis" "The formation of a blood clot (thrombus) in the portal vein." "" + "hepatic vascular disorder" "A non-neoplastic or neoplastic vascular disorder that affects the liver. Representative examples include veno-occlusive disease, hemangioma, lymphangioma, and angiosarcoma." "" + "cardiovascular cancer" "A primary or metastatic malignant neoplasm involving the cardiovascular system." "" + "thoracic cancer" "A primary or metastatic malignant neoplasm affecting the tissues of the thorax." "" + "heart neoplasm" "A neoplasm (disease) that involves the heart." "" + "selective IgA deficiency disease" "A dysgammaglobulinemia characterized by low or undetectable serum levels of immunoglobulin class A (IgA). It is the most common primary antibody deficiency. It may be inherited or the reversible sequela of infection or certain drugs. It may be caused by decreased or inefficient class-switching from progenitor B cells without any corresponding decreases in the other isotypes. Though affected persons may be asymptomatic, low levels of IgA will reduce the immune system's ability to combat infection where IgA is normally secreted, at mucosal surfaces. Selective IgA deficiency is seen in greater proportion among patients with autoimmune disorders." "" + "dysgammaglobulinemia" "An immunologic deficiency state characterized by selective deficiencies of one or more, but not all, classes of immunoglobulins." "" + "selective immunoglobulin deficiency disease" "A broad classification of dysgammaglobulinemias characterized by low or undetectable serum levels of one of the five immunoglobulin classes. Deficiencies of immunoglobulins present variably according to isotype. Selective deficiencies may be caused by decreased or inefficient production from progenitor B cells without any corresponding decreases in the other isotypes. The clinical course and prognosis is dependent upon the severity of the selective deficiency and associated morbidity." "" + "blood protein disease" "" + "impaired renal function disease" "Any disease in which the causes of the disease is a perturbation of the kidney leading to its dysfunction." "" + "obsolete neonatal diabetes mellitus" "" "true" + "antidepressant type abuse" "A substance abuse that involves the recurring use of antidepressant drugs despite negative consequences." "" + "obsolete distal muscular dystrophy" "" "true" + "facioscapulohumeral muscular dystrophy" "An autosomal dominant disorder affecting the skeletal muscles of the face, scapula, and upper arm. Patients present with muscle weakness in these anatomic areas. The muscle weakness eventually spreads to other skeletal muscles as well." "" + "progressive muscular dystrophy" "" + "obsolete Lyme disease" "" "true" + "odontoclasia" "" + "parametrium malignant neoplasm" "A malignant neoplasm involving the parametrium." "" + "uterine cancer" "Primary or metastatic malignant neoplasm involving the uterine corpus and/or the cervix." "" + "round ligament malignant neoplasm" "A malignant neoplasm involving the round ligament of uterus." "" + "peritoneum cancer" "A malignant neoplasm involving the peritoneum" "" + "ligament disorder" "A disease or disorder that involves the ligament." "" + "Bordetella parapertussis infectious disease" "Any disease caused by infection with by Bordetella parapertussis. The symptoms are similar but less severe than Bordetella pertussis whooping cough." "" + "bordetellosis" "Any disease caused by infection with organisms of the genus Bordetella." "" + "pertussis" "A contagious bacterial respiratory infection caused by Bordetella pertussis. It is characterized by severe and uncontrollable cough, resulting in a whooping sound during breathing following the cough." "" + "obsolete acute endophthalmitis" "" "true" + "ocular siderosis" "A hemosiderosis that involves the camera-type eye." "" + "hemosiderosis" "Accumulation of iron in internal organs." "" + "iron deficiency anemia" "Anemia caused by low iron intake, inefficient iron absorption in the gastrointestinal tract, or chronic blood loss." "" + "bronchial disorder" "A disease involving the bronchus." "" + "obsolete Kohler disease" "" "true" + "blind hypotensive eye" "" + "ocular hypotension" "Abnormally low intraocular pressure often related to chronic inflammation (uveitis)." "" + "spontaneous ocular nystagmus" "Involuntary movements of the eye that are divided into two types, jerk and pendular. Jerk nystagmus has a slow phase in one direction followed by a corrective fast phase in the opposite direction, and is usually caused by central or peripheral vestibular dysfunction. Pendular nystagmus features oscillations that are of equal velocity in both directions and this condition is often associated with visual loss early in life. (Adams et al., Principles of Neurology, 6th ed, p272)" "" + "pathologic nystagmus" "Involuntary movements of the eyeballs. The presence or absence of nystagmus is often used in the diagnosis of a variety of neurological and visual disorders." "" + "obsolete leukocoria" "An abnormal white reflection from the retina of the eye." "" "true" + "blind hypertensive eye" "" + "regular astigmatism" "" + "astigmatism" "Unequal curvature of the refractive surfaces of the eye. Thus a point source of light cannot be brought to a point focus on the retina but is spread over a more or less diffuse area. This results from the radius of curvature in one plane being longer or shorter than the radius at right angles to it. (Dorland, 27th ed)" "" + "necrosis of ear ossicle" "" + "middle ear disorder" "A disease involving the middle ear." "" + "splenic sequestration" "" + "splenic disorder" "A disease involving the spleen." "" + "chronic congestive splenomegaly" "Chronic form of congestive splenomegaly." "" + "congestive splenomegaly" "" + "phthisical cornea" "" + "chronic laryngitis" "Persistent laryngitis usually caused by smoking, heavy alcohol consumption, voice abuse, or gastroesophageal reflux disease. It results in hoarseness and other voice changes." "" + "protein-energy malnutrition" "A nutritional deficit that is caused by inadequate protein or calorie intake." "" + "bladder neck cancer" "A malignant neoplasm involving the neck of urinary bladder." "" + "disorder of neck of urinary bladder" "" + "urinary bladder posterior wall cancer" "" + "bladder sarcoma" "A malignant mesenchymal cell neoplasm that affects the urinary bladder." "" + "bladder trigone cancer" "A malignant neoplasm involving the trigone of urinary bladder." "" + "bladder dome cancer" "Cancer of the upper, convex surface of the bladder." "" + "urinary bladder anterior wall cancer" "" + "vitreous syneresis" "" + "vitreous disorder" "A disease involving the vitreous humor." "" + "urachus cancer" "A malignant neoplasm involving the urachus." "" + "ureteric orifice cancer" "A malignant neoplasm involving the ureteral orifice." "" + "ureter cancer" "A malignant neoplasm involving the ureter" "" + "bladder lymphoma" "A lymphoma that involves the urinary bladder." "" + "hepatorenal syndrome" "Hepatorenal syndrome is a form of impaired kidney function that occurs in individuals with advanced chronic liver disease. As many as 40% of individuals with cirrhosis and ascites will develop hepatorenal syndrome. Symptoms may include fatigue, abdominal pain, and a general feeling of ill health (malaise). There are two distinct types of hepatorenal syndrome. Type I progresses quickly (within days), leading to kidney failure. Individuals with type I typically have dramatically reduced urine output, edema, and jaundice, and often suffer from hepatic encephalopathy. Type II progresses more slowly, over weeks or months, and the symptoms are less severe. The cause of hepatorenal syndrome is unknown. A contributing factor seems to be a narrowing of the blood vessels that connect into the kidneys. This causes a decrease in blood flow to the kidneys, impairing their function. In some cases, triggers or precipitating factors (infections, blood loss from the gastrointestinal tract, low blood pressure) are involved. Treatment is aimed at helping the liver work better and maintaining kidney function. In many cases, a liver transplant is needed. In some cases, individuals also need a kidney transplant." "" + "acute kidney failure" "Sudden and sustained deterioration of the kidney function characterized by decreased glomerular filtration rate, increased serum creatinine or oliguria." "" + "degenerative myopia" "Excessive axial myopia associated with complications (especially posterior staphyloma and choroidal neovascularization) that can lead to blindness." "" + "myopia" "The condition in which the individual does not see far distances clearly." "" + "cortical blindness" "Visual impairment due to visual cortex dysfunction." "" + "blindness (disorder)" "The lack of vision. It is caused by neurological or physiological factors." "" + "visual cortex disorder" "A disease involving the visual cortex." "" + "visual epilepsy" "Clinical or subclinical disturbances of cortical function due to a sudden, abnormal, excessive, and disorganized discharge of brain cells. Clinical manifestations include abnormal motor, sensory and psychic phenomena. Recurrent seizures are usually referred to as epilepsy or 'seizure disorder.'" "" + "reflex epilepsy" "Reflex epilepsy refers to epilepsies where recurrent seizures are provoked by a clearly defined extrinsic (most commonly) or intrinsic triggering stimuli such as flashing lights (photosensitive epilepsy), startling noises (startle epilepsy), urinating (micturition induced seizures), exposure to hot-water (hot water epilepsy), eating, reading, and thinking, while being associated with an enduring abnormal predisposition to have such seizures (thereby meeting the conceptual definition of epilepsy)." "" + "penile sarcoma" "A malignant soft tissue neoplasm that arises from the penis. Representative examples include Kaposi sarcoma, leiomyosarcoma, and angiosarcoma." "" + "glans penis cancer" "A malignant neoplasm involving the glans penis." "" + "coronary artery disorder" "Narrowing of the coronary arteries due to fatty deposits inside the arterial walls. The diagnostic criteria may include documented history of any of the following: documented coronary artery stenosis greater than or equal to 50% (by cardiac catheterization or other modality of direct imaging of the coronary arteries); previous coronary artery bypass surgery (CABG); previous percutaneous coronary intervention (PCI); previous myocardial infarction. (ACC)" "" + "transient refractive change" "" + "indeterminate leprosy" "A leprosy that is an early form of the disease which causes one to a few hypopigmented or erythematous macules." "" + "leprosy" "Leprosy is a chronic infectious disease affecting primarily the skin and peripheral nervous system." "" + "monocular exotropia" "" + "peripheral focal chorioretinitis" "" + "focal chorioretinitis" "" + "chronic erythremia" "" + "macular keratitis" "" + "keratitis" "A corneal disease that is characterized by inflammation of the cornea." "" + "abnormal threshold of rods" "" + "mononeuropathy" "Disease or trauma involving a single peripheral nerve in isolation, or out of proportion to evidence of diffuse peripheral nerve dysfunction. Mononeuropathy multiplex refers to a condition characterized by multiple isolated nerve injuries. Mononeuropathies may result from a wide variety of causes, including ischemia; traumatic injury; compression; connective tissue diseases; cumulative trauma disorders; and other conditions." "" + "ureter benign neoplasm" "Cancer or tumors of the ureter which may cause obstruction leading to hydroureter, hydronephrosis, and pyelonephritis. hematuria is a common symptom." "" + "ureter neoplasm" "A benign or malignant neoplasm that affects the ureter." "" + "ureter leiomyoma" "A benign smooth muscle neoplasm arising from the ureter. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern." "" + "schwannoma of ureter" "A benign nerve sheath tumor composed of Schwann cells, occurring in the ureter." "" + "schwannoma" "A benign, usually encapsulated slow growing tumor composed of Schwann cells. It affects peripheral and cranial nerves. It recurs infrequently and only rare cases associated with malignant transformation have been reported." "" + "peripheral nerve schwannoma" "A benign, usually encapsulated slow growing tumor of the peripheral nervous system composed of Schwann cells. It recurs infrequently and only rare cases associated with malignant transformation have been reported." "" + "benign neoplasm of peripheral nervous system" "" + "female breast nipple and areola cancer" "" + "female breast carcinoma" "A carcinoma that arises from the breast in females. It is the most common malignant tumor that affects females." "" + "vaginal cancer" "A primary or metastatic malignant neoplasm involving the vagina. Representative examples include carcinomas and sarcomas." "" + "female reproductive organ cancer" "A primary or metastatic malignant neoplasm involving the female reproductive system. Representative examples include endometrial carcinoma, cervical carcinoma, ovarian carcinoma, uterine corpus leiomyosarcoma, adenosarcoma, malignant mixed mesodermal (mullerian) tumor, and gestational choriocarcinoma." "" + "labium majus cancer" "A malignant neoplasm involving the labium majora." "" + "vulva cancer" "A primary or metastatic malignant neoplasm involving the vulva." "" + "skin cancer" "A malignant neoplasm involving the zone of skin" "" + "ecthyma" "An ulcerative pyoderma usually caused by group A beta-hemolytic streptococcal infection at the site of minor trauma. (Dorland, 27th ed)" "" + "impetigo" "A contagious bacterial cutaneous infection that affects children and is usually caused by Staphylococcus aureus. It usually presents in the face with honey colored scabs." "" + "dermatophytosis of groin and perianal area" "Dermatophytosis involving the stratum corneum of the skin of the groin and perianal area." "" + "peripheral nervous system neoplasm" "A benign or malignant neoplasm arising from a peripheral nerve or the perineural sheaths." "" + "tracheal cancer" "A malignant neoplasm involving the trachea" "" + "trachea neoplasm" "A neoplasm (disease) that involves the trachea." "" + "ischemic neuropathy" "Neuropathy that is caused by inadequate blood supply." "" + "esophagitis" "An acute or chronic inflammatory disease affecting the esophageal wall." "" + "postmenopausal atrophic vaginitis" "Inflammation of the vagina due to thinning of the vaginal wall and decreased lubrication associated with reduced estrogen levels at menopause." "" + "vaginitis" "A non-infectious or infectious inflammatory process affecting the vagina." "" + "synostosis" "A disease characterized by abnormal union between adjacent bones or parts of a single bone formed by osseous material, such as ossified connecting cartilage or fibrous tissue." "" + "conjunctival concretion" "" + "ulceroglandular tularemia" "A tularemia that results in painful regional lymphadenopathy and an ulcerated skin lesion." "" + "osteopoikilosis" "A rare autosomal dominant inherited disorder characterized by the presence of small areas of increased density throughout the bones." "" + "osteosclerosis" "Abnormally high bone density." "" + "atrophy of testis" "Loss of testicular volume." "" + "tracheal lymphoma" "A rare lymphoma that arises from the trachea. Signs and symptoms include dyspnea, cough, wheezing, and stridor." "" + "trachea sarcoma" "A rare malignant soft tissue neoplasm that arises from the trachea." "" + "trachea squamous cell carcinoma" "A rare squamous cell carcinoma that arises from the mucosal lining of the trachea. It usually grows as an intraluminal mass and later invades extraluminal structures. The majority of patients present with hemoptysis, coughing, dyspnea, or stridor." "" + "trigeminal nerve neoplasm" "Benign and malignant neoplasms which arise from or metastasize to the trigeminal or fifth cranial nerve which provides sensory innervation to the face, oral cavity and sinuses and the muscles of mastication. Clinical features may include facial pain or sensory loss or weakness of jaw closure." "" + "cranial nerve neoplasm" "Abnormal growth of the cells that comprise the cranial nerves." "" + "trigeminal nerve disorder" "A disease involving the trigeminal nerve." "" + "frontal lobe neoplasm" "A neoplasm involving a frontal lobe." "" + "neoplasm of cerebral hemisphere" "A neoplasm involving a cerebral hemisphere." "" + "primary aldosteronism" "An endocrine disorder characterized by excessive production of aldosterone by the adrenal glands. Causes include adrenal gland adenoma and adrenal gland hyperplasia. The overproduction of aldosterone results in sodium and water retention and hypokalemia. Patients present with high blood pressure, muscle weakness, and headache." "" + "adrenal gland disorder" "A disease involving the adrenal gland." "" + "adrenal cortex adenoma" "A benign neoplasm that can arise from any of the adrenal cortical layers. It can be associated with the overproduction of glucocorticoids (Cushing's syndrome), androgenic or estrogenic steroids (adrenogenital syndrome), or mineralocorticoids (Conn's syndrome). (Sternberg Diagnostic Surgical Pathology, 3rd ed.)" "" + "drug-induced mental disorder" "" + "substance-induced psychosis" "" + "sarcoid meningitis" "Meningitis that arises from sarcoidosis." "" + "non-infectious meningitis" "" + "neurosarcoidosis" "A sarcoidosis that involves the nervous system." "" + "obsolete Rett syndrome" "" "true" + "mediastinum neurofibroma" "A neurofibroma that arises from the posterior mediastinum. Excision is usually curative." "" + "neurofibroma" "An intraneural or extraneural neoplasm arising from nerve tissues and neural sheaths. It is composed of perineurial-like fibroblasts and Schwann cells. It usually presents as a localized cutaneous lesion and less often as a circumscribed peripheral nerve mass. Patients with neurofibromatosis type 1 present with multiple masses. Neurofibromas which arise from major nerves and plexiform neurofibromas are precursor lesions to malignant peripheral nerve sheath tumors." "" + "Dieulafoy lesion" "Dieulafoy lesion is an abnormally large artery (a vessel that takes blood from the heart to other areas of the body) in the lining of the gastrointestinal system. It is most common in the stomach but can occur in other locations, including the small and large intestine. Dieulafoy lesions can cause severe and sudden gastrointestinal bleeding. The condition occurs in people of all ages, but is more common in males than in females.Depending upon the site of the bleeding, symptoms may include vomiting up blood (hematemesis); sticky, dark-colored stools (melena); passage of fresh blood in the stool (hematochezia); or coughing up blood (hemoptysis). Some affected individuals may only present with blood pressure problems. Treatment may include endoscopic and/or surgical techniques. Though treatment can be effective, Dieulafoy lesions and the associated blood loss can be fatal, especially if not diagnosed and treated promptly." "" + "pylorospasm" "" + "transient arthropathy" "Arthropathy that is not permanent." "" + "arthropathy" "Any disorder of the joints." "" + "deep corneal vascularisation" "" + "corneal neovascularization" "New blood vessels originating from the corneal veins and extending from the limbus into the adjacent corneal stroma. Neovascularization in the superficial and/or deep corneal stroma is a sequel to numerous inflammatory diseases of the ocular anterior segment, such as trachoma, viral interstitial keratitis, microbial keratoconjunctivitis, and the immune response elicited by corneal transplantation." "" + "toxic or nutritional optic neuropathy" "A disease with basis in optic nerve damage secondary to a toxic substance and/or nutritional deficiency." "" + "optic neuritis" "Optic neuritis is inflammation of the optic nerve, the nerve that carries the visual signal from the eye to the brain.The conditionmay cause sudden, reduced vision in the affected eye(s). While the cause of optic neuritis is unknown, it has been associated with autoimmune diseases, infections, multiple sclerosis, drug toxicity and deficiency of vitamin B-12. Vision often returns to normal within 2-3 weeks without treatment. In some cases, corticosteroids are given to speed recovery. If known, the underlying cause should be treated." "" + "obsolete sodoku disease" "" "true" + "vaginal disorder" "A non-neoplastic or neoplastic disorder that affects the vagina. Representative examples include vaginal infection, vaginal polyp, and vaginal squamous cell carcinoma." "" + "inflammatory spondylopathy" "" + "spondylitis" "The inflammation of a vertebra." "" + "bullous retinoschisis" "" + "retinoschisis" "An inherited or acquired disorder characterized by splitting of the retina into two layers. It results in loss of vision." "" + "iron metabolism disease" "Disorders in the processing of iron in the body: its absorption, transport, storage, and utilization. (From Mosby's Medical, Nursing, & Allied Health Dictionary, 4th ed)" "" + "pulmonary alveolar proteinosis" "A rare lung disorder characterized by the filling of the pulmonary alveoli with proteinaceous material which stains positive with periodic acid-Schiff stain. It may be idiopathic or secondary due to hematologic malignancies or the inhalation of mineral dusts. Signs and symptoms include dyspnea, cough and low grade fever." "" + "postinflammatory pulmonary fibrosis" "" + "episcleritis periodica fugax" "" + "neurotrophic keratoconjunctivitis" "" + "pica disease" "An eating disorder characterized by the persistent eating of nonnutritive substances such as clay or soil; this behavior must be inappropriate to the level of the individual's development." "" + "dysthymic disorder" "A chronic mood disorder in which the symptoms are similar to, though milder than, those diagnosed in depression." "" + "mood disorder" "A cognitive disorder a disturbance in which the person's mood is hypothesized to be the main underlying feature." "" + "tympanosclerosis" "The formation of dense connective tissue in the tympanic membrane that does not necessarily cause or lead to loss of hearing." "" + "tympanic membrane disorder" "A disease involving the tympanic membrane." "" + "Chagas disease" "A parasitic infection caused by Trypanosoma cruzi. It is transmitted by insect bites. It is characterized by an acute and chronic phase; in the acute phase patients may have fever, malaise, and swelling at the site of the insect bite. In the chronic phase patients develop hepatosplenomegaly, lymphadenopathy, cardiomyopathy and arrhythmias." "" + "obsolete neurogenic bladder" "Malfunctioning urinary bladder due to central nervous system disorders or damage to the peripheral nerves that are involved in the control of urination. Causes include spinal cord injuries, neural tube defects, brain tumors, strokes, and peripheral neuropathies (e.g., AIDS neuropathy and diabetic neuropathy)." "" "true" + "low compliance bladder" "" + "urinary bladder disorder" "A disease involving the urinary bladder." "" + "detrusor sphincter dyssynergia" "" + "obsolete alveolar echinococcosis" "" "true" + "lymphocytic choriomeningitis" "A form of meningitis caused by lymphocytic choriomeningitis virus. mice and other rodents serve as the natural hosts, and infection in humans usually occurs through inhalation or ingestion of infectious particles. Clinical manifestations include an influenza-like syndrome followed by stiff neck, alterations of mentation, ataxia, and incontinence. Maternal infections may result in fetal malformations and injury, including neonatal hydrocephalus, aqueductal stenosis, chorioretinitis, and microcephaly. (From Joynt, Clinical Neurology, 1996, Ch26, pp1-3)" "" + "viral infection of central nervous system" "" + "obsolete arachnoiditis" "" "true" + "peripheral retinal degeneration" "Degeneration of the peripheral retina." "" + "retinal degeneration" "Degeneration of the retina." "" + "pseudoretinitis pigmentosa" "" + "senile reticular retinal degeneration" "" + "Blessig's cysts" "" + "retinal lattice degeneration" "" + "cobblestone retinal degeneration" "" + "secondary vitreoretinal degeneration" "" + "ulnar nerve lesion" "A peripheral nerve lesion that involves the ulnar nerve." "" + "peripheral nerve lesion" "" + "ulnar neuropathy" "Disease involving the ulnar nerve from its origin in the brachial plexus to its termination in the hand. Clinical manifestations may include paresis or paralysis of wrist flexion, finger flexion, thumb adduction, finger abduction, and finger adduction. Sensation over the medial palm, fifth finger, and ulnar aspect of the ring finger may also be impaired. Common sites of injury include the axilla, cubital tunnel at the elbow, and Guyon's canal at the wrist. (From Joynt, Clinical Neurology, 1995, Ch51 pp43-5)" "" + "neuritis of upper limb" "A neuritis that involves the forelimb." "" + "radial neuropathy" "Disease involving the radial nerve. Clinical features include weakness of elbow extension, elbow flexion, supination of the forearm, wrist and finger extension, and thumb abduction. Sensation may be impaired over regions of the dorsal forearm. Common sites of compression or traumatic injury include the axilla and radial groove of the humerus." "" + "brachial plexus neuropathy" "A brachial plexus disorder characterized by regional paresthesia, pain and muscle weakness, and limited movement in the arm or hand." "" + "dyshormonogenic goiter" "" + "goiter" "Enlargement of the thyroid gland usually caused by lack of iodine in the diet, hyperthyroidism, or thyroid nodules. Symptoms include difficulty in breathing and swallowing." "" + "descending colon cancer" "A malignant neoplasm involving the descending colon." "" + "malignant colon neoplasm" "A primary or metastatic malignant neoplasm that affects the colon. Representative examples include carcinoma, lymphoma, and sarcoma." "" + "splenic flexure cancer" "A malignant neoplasm involving the splenic flexure of colon." "" + "sigmoid colon cancer" "A malignant neoplasm involving the sigmoid colon." "" + "sigmoid neoplasm" "Tumors or cancer of the sigmoid colon." "" + "superficial keratitis" "" + "punctate epithelial keratoconjunctivitis" "" + "obsolete specific bursitis often of occupational origin" "" "true" + "synovial plica syndrome" "" + "synovium disorder" "A disease or disorder that involves the layer of synovial tissue." "" + "cascade stomach" "" + "anal margin squamous cell carcinoma" "A squamous cell carcinoma arising from the perianal skin." "" + "skin squamous cell carcinoma" "A carcinoma arising from the squamous cells of the epidermis. Skin squamous cell carcinoma is most commonly found on sun-exposed areas. The majority of the tumors are well-differentiated." "" + "anal margin carcinoma" "A carcinoma that arises from epithelial cells of the perianal skin" "" + "anal squamous cell carcinoma" "A squamous cell carcinoma (SCC) arising from the anal canal or the anal margin (perianal skin). Human papillomavirus is detected in the majority of cases. Homosexual HIV-positive men have an increased risk of developing anal squamous cell carcinoma in comparison to the general male population. Symptoms include anal pruritus, discomfort when sitting, pain, change in bowel habit, and bleeding. The prognosis is generally better for anal margin SCC than for anal canal SCC." "" + "histoplasmosis meningitis" "An infectious meningitis caused by infection with Histoplasma capsulatum." "" + "fungal meningitis" "Meningitis caused by fungal agents which may occur as opportunistic infections or arise in immunocompetent hosts." "" + "testicular lymphoma" "A lymphoma that arises from the testis and is not associated with lymphoma in another anatomic site." "" + "testicular sex cord-stromal neoplasm" "A benign or malignant tumor that arises from the testis. It is composed of granulosa cells, Leydig cells, Sertoli cells, and fibroblasts. Each of these cell types may constitute the only cellular component that is present in the tumor or it may be mixed with other cell types in various combinations. The prognosis can not always be predicted on histologic grounds alone. Approximately, ten percent of these tumors may metastasize. Representative examples include granulosa cell tumor, Leydig cell tumor, Sertoli cell tumor, and tumors of the thecoma-fibroma group." "" + "medulloadrenal hyperfunction" "" + "chronic salpingo-oophoritis" "Chronic form of salpingo-oophoritis." "" + "chronic salpingitis" "Chronic inflammation of the fallopian tube. It usually follows an acute inflammatory attack." "" + "agranulocytosis" "A decrease in the number of mature granulocytes (neutrophils, eosinophils, and basophils) in the peripheral blood." "" + "non-syndromic developmental defect of the eye" "A developmental defect of the eye that is not part of a larger syndrome." "" + "obsolete aniridia" "" "true" + "anisometropia" "A condition of an inequality of refractive power of the two eyes." "" + "cutaneous diphtheria" "A usually mild form of diphtheria characterized by infection of the skin by corynebacterium diphtheria and the resulting formation of a chronic, shallow ulcer that is sometimes bordered or followed by a bulla." "" + "pyoderma" "Any skin disease that is pyegenic." "" + "malignant tumor of undescended testis" "" + "femoral vein thrombophlebitis" "A thrombophlebitis that involves the femoral vein." "" + "testicular leukemia" "A myeloid or more commonly lymphoid leukemia (acute or chronic) affecting the testis. Microscopically, there is interstitial infiltration of the testis by leukemic cells. Acute lymphoblastic leukemia with testicular involvement is not uncommon in boys. Sometimes (up to 10% of the cases), testicular involvement may be the initial manifestation of relapsed acute lymphoblastic leukemia. --03" "" + "bone marrow cancer" "Malignant neoplasms that either originate from the bone marrow (e.g. myeloid leukemias) or involve the bone marrow as secondary-metastatic tumors (e.g. metastatic carcinomas to the bone marrow). --2003" "" + "obsolete Crimean-Congo hemorrhagic fever" "" "true" + "paranoid schizophrenia" "A subtype of schizophrenia characterized by prominent delusions (typically persecutory or grandiose) or hallucinations in the context of a relative preservation of cognitive functioning and affect." "" + "schizophrenia" "A major psychotic disorder characterized by abnormalities in the perception or expression of reality. It affects the cognitive and psychomotor functions. Common clinical signs and symptoms include delusions, hallucinations, disorganized thinking, and retreat from reality." "" + "atypical depressive disorder" "A mood disorder that is characterized by mood reactivity (paradoxical anhedonia) and positivity, significant weight gain or increased appetite (\"comfort eating\"), excessive sleep or somnolence (hypersomnia), a sensation of heaviness in limbs known as leaden paralysis, and significant social impairment as a consequence of hypersensitivity to perceived interpersonal rejection." "" + "obsolete Vogt-Koyanagi-Harada disease" "" "true" + "intrahepatic bile duct cancer" "A cancer that involves the intrahepatic bile duct." "" + "bile duct cancer" "A malignant neoplasm involving the bile duct" "" + "gallbladder cancer" "A malignant neoplasm involving the gall bladder" "" + "anterior corneal pigmentation" "" + "obsolete urticaria pigmentosa" "" "true" + "corneal granular dystrophy" "A stromal corneal dystrophy that is caused by mutation(s) in the TGFBI gene." "" + "cough variant asthma" "An asthma that is characterized by chronic nonproductive cough without shortness of breath." "" + "asthma" "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors resulting in recurring periods of wheezing (a whistling sound while breathing), chest tightness, shortness of breath, mucus production and coughing. The symptoms appear due to a variety of triggers such as allergens, irritants, respiratory infections, weather changes, exercise, stress, reflux disease, medications, foods and emotional anxiety." "" + "kyphoscoliotic heart disease" "" + "chronic pulmonary heart disease" "Heart disease which occurs as a result of a primary pulmonary disease. Cor pulmonale most often manifests as right ventricular hypertrophy; it can also lead to right ventricular failure." "" + "cor pulmonale" "Hypertrophy and dilation of the right ventricle of the heart that is caused by pulmonary hypertension. This condition is often associated with pulmonary parenchymal or vascular diseases, such as chronic obstructive pulmonary disease and pulmonary embolism." "" + "obsolete transvestism" "A disorder characterized by recurrent sexual urges, fantasies, or behaviors in a heterosexual male involving cross-dressing." "" "true" + "hematocele of tunica vaginalis testis" "Hemorrhage into a canal or cavity of the body, such as the space covered by the serous membrane (tunica vaginalis) around the testis leading to testicular hematocele or scrotal hematocele." "" + "male genital organ stricture" "" + "male genital organ vascular disease" "" + "varicocele" "A condition characterized by the dilated tortuous veins of the spermatic cord with a marked left-sided predominance. Adverse effect on male fertility occurs when varicocele leads to an increased scrotal (and testicular) temperature and reduced testicular volume." "" + "pelvic varices" "A varicose disease that involves the pelvic region of trunk." "" + "scrotal disorder" "A disease or disorder that involves the scrotum." "" + "retroperitoneal lymphoma" "A lymphoma that involves the retroperitoneal space." "" + "retroperitoneal cancer" "A primary or metastatic malignant neoplasm involving the retroperitoneum. The vast majority of cases are carcinomas, lymphomas, or sarcomas." "" + "retroperitoneal sarcoma" "A sarcoma involving a retroperitoneal space." "" + "retroperitoneum carcinoma" "A carcinoma that arises from epithelial cells of the retroperitoneal space." "" + "primary eye hypotony" "" + "fetishism" "A disorder characterized by recurrent sexual urges, fantasies, or behaviors involving the use of nonliving objects such as women's wearing apparel (the \"fetish\")." "" + "alcoholic hepatitis" "Acute hepatitis resulting from ingestion of alcohol." "" + "hepatitis" "An active inflammatory process affecting the liver for more than six months. Causes include viral infections, autoimmune disorders, drugs, and metabolic disorders." "" + "alcoholic liver diseases" "A disorder caused by damage to the liver parenchyma due to alcohol consumption. It may present with an acute onset or follow a chronic course, leading to cirrhosis." "" + "prostatocystitis" "" + "prostatitis" "An infectious or non-infectious inflammatory process affecting the prostate gland." "" + "viral labyrinthitis" "An labyrinthitis caused by infection with Viruses." "" + "labyrinthitis" "Inflammation of the inner ear. The cause is often not clear. It may be due to a virus, but it can also arise from bacterial infection, head injury, extreme stress, an allergy, or as a reaction to medication." "" + "ear infection" "A viral or bacterial infection that affects the external, middle, or inner ear. It may follow an upper respiratory infection. Signs and symptoms include pain, ear discharge, ear fullness, hearing loss, vertigo, nausea, and vomiting." "" + "patulous eustachian tube" "A eustachian tube disorder with a wider eustachian tube which allows a larger bolus of bacteria-laden material from the nasopharynx during an infection to enter the middle ear, causing a more fulminant infection." "" + "eustachian tube disorder" "A disease involving the pharyngotympanic tube." "" + "endocrine exophthalmos" "" + "lateral displacement of eye" "" + "thyrotoxic exophthalmos" "" + "intermittent proptosis" "" + "pulsating exophthalmos" "" + "prolapse of urethra" "Prolapse of the urethral mucosa from the exterior urethral opening." "" + "urethral disorder" "A disease involving the urethra." "" + "anterior horn disorder" "Anterior horn disease is one of a number of medical disorders affecting the anterior horn of the spinal cord. Anterior horn diseases include spinal muscular atrophy, poliomyelitis and amyotrophic lateral sclerosis." "" + "spastic entropion" "" + "entropion" "The turning inward (inversion) of the edge of the eyelid, with the tarsal cartilage turned inward toward the eyeball. (Dorland, 27th ed)" "" + "kleptomania" "A disorder characterized by the recurrent failure to resist the impulse to steal items of little intrinsic value; the individual experiences a rising subjective sense of tension before the theft and a sense of gratification or relief during the theft." "" + "intermittent explosive disorder" "A disorder characterized by recurrent episodes of serious assaultive acts or destruction of property due to a failure to resist aggressive impulses; the degree of aggression during these episodes is grossly out of proportion to any psychosocial provocation. The aggressive episodes are not etiologically linked to another mental disorder, a general medical condition, or substance use." "" + "pyromania" "A disorder characterized by a fascination with fire and recurrent episodes of fire setting during which the individual experiences a rising subjective sense of tension before the fire setting and a sense of gratification or relief when setting the fire. There is no ulterior motive (such as monetary gain or the expression of political ideology) to the fire setting." "" + "luxation of globe" "" + "globe disease" "" + "thyrocalcitonin secretion disease" "" + "thyroid gland disorder" "A disease involving the thyroid gland." "" + "labia minora cancer" "A malignant neoplasm that affects the labia minora." "" + "conjugate gaze palsy" "" + "pancytopenia" "A finding of low numbers of red and white blood cells and platelets in the peripheral blood." "" + "secondary hyperparathyroidism of renal origin" "" + "secondary hyperparathyroidism" "Overproduction of parathyroid hormone in response to influence external to the parathyroid glands." "" + "non-renal secondary hyperparathyroidism" "" + "capillariasis" "A infectious disease involving the Capillaria." "" + "pes anserinus tendinitis or bursitis" "" + "enthesopathy" "A disorder involving the attachment of a tendon or ligament to a bone" "" + "ocular hyperemia" "" + "vagus nerve disorder" "A disease involving the vagus nerve." "" + "glossopharyngeal nerve disorder" "A disease involving the glossopharyngeal nerve." "" + "vaginal leiomyoma" "A benign smooth muscle neoplasm arising from the vagina. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern." "" + "tuberculous epididymitis" "An urogenital tuberculosis involving a pathogenic inflammatory response in the epididymis." "" + "epididymitis" "Inflammation of the epididymis. Its clinical features include enlarged epididymis, a swollen scrotum; pain; pyuria; and fever. It is usually related to infections in the urinary tract, which likely spread to the epididymis through either the vas deferens or the lymphatics of the spermatic cord." "" + "male genital tuberculosis" "Mycobacterium infections of the male reproductive tract (genitalia, male)." "" + "retinal ischemia" "A ischemic disease that involves the retina." "" + "neurovascular disorder" "A disorder of the nervous system related to a vascular etiology." "" + "retinal perforation" "A usually small tearing of the retina occurring when the vitreous separates from the retina. It may lead to retinal detachment. Symptoms include flashes and floaters." "" + "retinal detachment" "An eye emergency condition which may lead to blindness if left untreated. It is characterized by the separation of the inner retina layers from the underlying pigment epithelium. Causes include trauma, advanced diabetes mellitus, high myopia, and choroid tumors. Symptoms include sudden appearance of floaters, sudden light flushes, and blurred vision." "" + "bagassosis" "An occupational lung disorder caused by inhalation of bagasse dust. In the acute phase, it manifests as cough, dyspnea, fever, chills, and weakness. Chronic exposure may lead to interstitial lung fibrosis." "" + "plantar nerve lesion" "A peripheral nerve lesion that involves the plantar nerve." "" + "lesion of sciatic nerve" "A peripheral nerve lesion that involves the sciatic nerve." "" + "mononeuritis of lower limb" "A mononeuritis simplex that involves the hindlimb." "" + "common peroneal nerve lesion" "A peripheral nerve lesion that involves the common fibular nerve." "" + "lumbosacral plexus lesion" "A nerve plexus disease that involves the lumbosacral nerve plexus." "" + "sciatic neuropathy" "Disease or damage involving the SCIATIC NERVE, which divides into the PERONEAL NERVE and TIBIAL NERVE (see also PERONEAL NEUROPATHIES and TIBIAL NEUROPATHY). Clinical manifestations may include SCIATICA or pain localized to the hip, PARESIS or PARALYSIS of posterior thigh muscles and muscles innervated by the peroneal and tibial nerves, and sensory loss involving the lateral and posterior thigh, posterior and lateral leg, and sole of the foot. The sciatic nerve may be affected by trauma; ISCHEMIA; COLLAGEN DISEASES; and other conditions. (From Adams et al., Principles of Neurology, 6th ed, p1363)" "" + "tibial nerve palsy" "" + "obsolete von willebrand disease" "" "true" + "hypermobility of coccyx" "" + "spondyloarthropathy" "A group of inflammatory rheumatic diseases associated with arthritis and enthesitis, and often involving the axial skeleton. The most common form of spondyloarthritis is ankylosing spondylitis. Other forms include axial spondyloarthritis, peripheral spondyloarthritis, reactive arthritis, psoriatic arthritis/spondylitis and enteropathic arthritis/spondylitis." "" + "atrophic nonflaccid tympanic membrane" "" + "hepatic coma" "A syndrome characterized by central nervous system dysfunction in association with liver failure, including portal-systemic shunts. Clinical features include lethargy and confusion (frequently progressing to coma); asterixis; nystagmus, pathologic; brisk oculovestibular reflexes; decorticate and decerebrate posturing; muscle spasticity; and bilateral extensor plantar reflexes (see reflex, babinski). electroencephalography may demonstrate triphasic waves. (From Adams et al., Principles of Neurology, 6th ed, pp1117-20; Plum & Posner, Diagnosis of Stupor and Coma, 3rd ed, p222-5)" "" + "hepatic encephalopathy" "Hepatic encephalopathy is a syndrome observed in some patients with cirrhosis. It is defined as a spectrum of neuropsychiatric abnormalities in patients with liver dysfunction, when other known brain disease has been excluded.Signs and symptomsmay be debilitating, and they can begin mildly and gradually, or occur suddenly and severely. They may includepersonality or moodchanges, intellectual impairment, abnormal movements,a depressed level of consciousness, and other symptoms.There are several theories regarding the exact cause, butdevelopment of the condition isprobablyat least partiallydue to the effect of substances that are toxic to nerve tissue (neurotoxic), which are typically present with liver damage and/or liver disease. Treatment depends upon the severity of mental status changes and upon the certainty of the diagnosis." "" + "hemolytic-uremic syndrome" "Acute kidney injury associated with microangiopathic hemolytic anemia and thrombocytopenia." "" + "familial hemolytic anemia" "A congenital hemolytic anemia caused by defects of the erythrocyte membrane, enzyme deficiencies, or hemoglobinopathies." "" + "thrombotic microangiopathy" "The syndromes of microangiopathic hemolytic anemia, thrombocytopenia, and variable signs of organ impairment, due to platelet aggregation in the microcirculation." "" + "inherited blood coagulation disorder" "Hemorrhagic and thrombotic disorders that occur as a consequence of inherited abnormalities in blood coagulation." "" + "obsolete rare constitutional hemolytic anemia" "True" "true" + "obsolete Duane retraction syndrome" "" "true" + "ulceration of vulva" "" + "vulvar disease" "A non-neoplastic or neoplastic disorder that affects the vulva. Representative examples include infection, Bartholin gland adenoma, and vulvar carcinoma." "" + "dyscalculia" "A wide group of related learning disorders characterized by difficulties with mathematics and manipulating numbers; the difficulty with math may be caused or exacerbated by visuo-spatial or language processing difficulties." "" + "phacolytic glaucoma" "An abnormal condition characterized by an acute autoimmune reaction of the eye. It is caused by hypersensitivity of the eye to the protein of the crystalline lens and commonly follows trauma to the crystalline lens or cataract surgery. Associated symptoms include swelling and inflammation of the eye, severe pain, and blurred vision. The substance of the lens is invaded by polymorphonuclear cells and mononuclear phagocytes. Accurate diagnosis must differentiate between this condition and infectious endophthalmitis. Therapy is supportive and commonly includes the administration of corticosteroids and atropine. Refractory cases may require surgical removal of the lens." "" + "phacogenic glaucoma" "Secondary glaucoma caused by either excessive size or spheric shape of the lens." "" + "neonatal thyrotoxicosis" "A hypermetabolic syndrome characterized by tachycardia, palpitations, tremor, weight loss, and moist skin that is caused by the elevation of thyroid hormone levels in the serum of the newborn infant or thyroid-axis receptor activation, most commonly due to transplacental passage of thyroid stimulating globulins." "" + "thyrotoxicosis" "A hypermetabolic syndrome caused by the elevation of thyroid hormone levels in the serum. Signs and symptoms include tachycardia, palpitations, tremor, weight loss, warm weather intolerance, and moist skin. Causes include Graves disease, toxic nodular goiter, toxic thyroid nodule, and lymphocytic thyroiditis." "" + "urethral obstruction" "Blockage of the normal flow of urine in the urethra." "" + "olecranon bursitis" "A bursitis that involves the olecranon." "" + "bursitis" "Inflammation or irritation of a synovial bursa, the fibrous sac that acts as a cushion between moving structures of bones, muscles, tendons or skin." "" + "Potter sequence" "A rare, lethal congenital malformation characterized by bilateral renal agenesis and the absence or decreased volume of amniotic fluid (oligohydramnios). The presence of oligohydramnios gives rise to congenital anomalies that include hypoplastic lungs, lower extremities abnormalities, and characteristic facial features (low-set ears, widely separated eyes, nose flattening, and receding chin). Newborn infants usually die of respiratory failure." "" + "oligohydramnios" "A lower than normal quantity of amniotic fluid in the amniotic sac as compared to normal values. Typically associated with an amniotic fluid index (AFI) of less than 5 cm or a single maximum vertical pocket (MVP) of less than 2 cm." "" + "bilateral renal agenesis" "Bilateral renal agenesis is the most profound form of renal agenesis, characterized by complete absence of kidney development, absent ureters and subsequent absence of fetal renal function resulting in Potter sequence with pulmonary hypoplasia related to oligohydramnios, which is fatal shortly after birth." "" + "perineocele" "" + "hypertrophic pyloric stenosis" "An abnormality characterized by thickening of the muscle in the wall of the pylorus. It results in the narrowing of the pyloric channel. The overlying mucosa may appear hypertrophic as well. Clinical signs and symptoms appear early in life and include projectile vomiting and dehydration." "" + "pyloric stenosis" "Narrowing of the pyloric lumen caused either by hypertrophy of the surrounding muscles or tissue scarring due to a chronic peptic ulcer." "" + "displacement of cardia through esophageal hiatus" "" + "hiatus hernia" "Herniation of the upper part of the stomach through the diaphragm." "" + "vestibulocochlear nerve disorder" "A disease involving the vestibulocochlear nerve." "" + "retrocochlear disease" "Pathological processes involving the vestibulocochlear nerve; brainstem; or central nervous system. When hearing loss is due to retrocochlear pathology, it is called retrocochlear hearing loss." "" + "cranial nerve neuropathy" "A neoplastic or non-neoplastic disorder that affects one of the cranial nerves." "" + "head disorder" "A disease involving the head." "" + "binocular vision disease" "Any inability to efficiently utilize and/or sustain binocular vision." "" + "abnormal retinal correspondence" "" + "calcium metabolic disease" "Disorders in the processing of calcium in the body: its absorption, transport, storage, and utilization." "" + "nephrocalcinosis" "Nephrocalcinosis is a disorder that occurs when too much calcium is deposited in the kidneys. It commonly occurs in premature infants. Individuals may not have symptoms or may have symptoms related to thecondition causing nephrocalcinosis. If kidney stones are present, symptoms may include blood in the urine, fever and chills, nausea and vomiting, and severe pain in the belly area, sides of the back (flank), groin, or testicles. Later symptoms may be associated with chronic kidney failure. It may be caused by use of certain medications or supplements, infection, or any condition that leads to high levels of calcium in the blood or urine including hyperparathyroidism, renal tubular acidosis, Alport syndrome, Bartter syndrome,and a variety of other conditions. Some of the underlying disorders that can cause nephrocalcinosis are genetic, with the inheritance pattern depending on the specific disorder. Treatment differs depending on the cause of nephrocalcinosis and often aims to prevent more calcium from being deposited in the kidneys." "" + "calcinosis" "Deposition of calcium in the tissues. It may be the result of a metabolic disorder or long-standing infection, or it may be associated with the presence of cancer." "" + "mixed receptive-expressive language disorder" "A disorder characterized by an impairment in the development of an individual's expressive and receptive language capabilities which is in contrast to his/her nonverbal intellect. The impairment may be acquired (i.e., due to a brain lesion or head trauma) or developmental (i.e., no known neurological insult)." "" + "acoustic neuroma" "A type of benign brain tumor that begins in the Schwann cells, which produce the myelin that protects the acoustic nerve - the nerve of hearing." "" + "obsolete locked-in syndrome" "" "true" + "benign smooth muscle neoplasm" "A benign mesenchymal neoplasm arising from smooth muscle tissue." "" + "obsolete Friedreich ataxia" "" "true" + "capillary disorder" "A disease involving a capillary." "" + "chronic gonococcal salpingitis" "Chronic form of gonococcal salpingitis." "" + "gonococcal salpingitis" "An salpingitis caused by infection with Neisseria gonorrhoeae." "" + "telangiectasis" "Local dilatation of small vessels resulting in red discoloration of the skin or mucous membranes." "" + "vascular ectasia" "" + "respiratory syncytial virus infectious disease" "Infection with the respiratory syncytial virus, an RNA virus of the genus Pneumovirus, in the family Paramyxoviridae, which is characterized by the formation of syncytia in tissue culture. It causes minor respiratory infection with rhinitis and cough in adults, but is capable of causing severe bronchitis and bronchopneumonia in young children." "" + "Mononegavirales infectious disease" "Infections with viruses of the order mononegavirales. The concept includes filoviridae infections; paramyxoviridae infections; and rhabdoviridae infections." "" + "viral respiratory tract infection" "A respiratory tract infection caused by a virus. Viruses represent the most common causes of upper and lower respiratory tract infections and include rhinoviruses, influenza viruses, parainfluenza viruses, and respiratory syncytial virus." "" + "hernia of ovary and fallopian tube" "" + "corneal staphyloma" "" + "lacrimal duct cancer" "A primary or metastatic malignant neoplasm affecting the lacrimal duct." "" + "lacrimal system cancer" "A cancer that involves the lacrimal apparatus." "" + "obsolete tolosa-hunt syndrome" "" "true" + "cicatricial ectropion" "" + "ectropion" "The turning outward (eversion) of the edge of the eyelid, resulting in the exposure of the palpebral conjunctiva. (Dorland, 27th ed)" "" + "diabetic polyneuropathy" "" + "ocular motility disease" "" + "hallucinogen abuse" "A substance abuse that involves the recurring use of hallucinogenic drugs despite negative consequences." "" + "mucopolysaccharidosis type 1" "The most common type of mucopolysaccharidosis. It is inherited in an autosomal recessive pattern. It comprises a group of lysosomal storage diseases which includes the most severe form (Hurler syndrome) and the mildest form (Scheie syndrome)." "" + "mucopolysaccharidosis" "A group of autosomal recessive or X-linked inherited lysosomal storage disorders affecting the metabolism of mucopolysaccharides, resulting in the accumulation of mucopolysaccharides in the body. Signs and symptoms include organomegaly, mental retardation, abnormal skeletal development, heart disorders, hearing loss, and central nervous system deficiencies." "" + "lysosomal storage disease with skeletal involvement" "True" + "metabolic disease with corneal opacity" "True" + "obsolete eyebrow hypertrophy" "" "true" + "obsolete mucopolysaccharidosis type 4" "" "true" + "chronic lacrimal gland enlargement" "" + "dacryoadenitis" "Inflammation and enlargement of the lacrimal gland." "" + "obsolete vaginal enterocele" "" "true" + "quadriplegia" "Paralysis of all four limbs." "" + "senile entropion" "" + "Achilles bursitis" "An bursitis involving a pathogenic inflammatory response in the calcaneal tendon." "" + "skeletal ligament disorder" "A disease or disorder that involves the skeletal ligament." "" + "choreatic disease" "A neurological condition affecting the involuntary movements. It is characterized by brief, non-repetitive irregular muscle contractions. It is seen in patients with Huntington's disease." "" + "neurodegenerative disease with chorea" "True" + "Huntington disease-like syndrome" "" + "hypochondriasis" "A somatoform disorder in which an individual is preoccupied with having a serious illness despite not having been given a corroborating diagnosis." "" + "submandibular gland disorder" "A disease involving the submandibular gland." "" + "benign lymphoepithelial lesion of salivary gland" "A benign lesion that involves the salivary glands, usually the parotid gland. It affects females more often than males and it may be a manifestation of autoimmune diseases such as Sjogren syndrome. There is an increased incidence of benign lymphoepithelial lesions in HIV-positive patients. It is characterized by the presence of a marked lymphocytic infiltrate and epi-myoepithelial islands in the affected salivary gland. Patients usually present with firm and painless swelling of the affected salivary gland. There is an increased risk for development of lymphoma." "" + "obsolete Mikulicz disease" "" "true" + "mucocele of salivary gland" "A benign cyst located in the salivary gland that is lined by epithelium and filled with mucoid fluid, tissue, or other material; it is usually caused by duct obstruction." "" + "Plasmodium ovale malaria" "An malaria caused by infection with Plasmodium ovale." "" + "malaria" "Malaria is a serious and sometimes fatal disease caused by a parasite that commonly infects a certain type of mosquito which feeds on humans. Infection with malaria parasites may result in a wide variety of symptoms, ranging from absent or very mild symptoms to severe disease and even death. People who get malaria are typically very sick with high fevers, shaking chills, and flu-like illness. In general, malaria is a curable disease if diagnosed and treated promptly and correctly.Treatment depends on many factors including disease severity, the species of malaria parasite causing the infection and the part of the world in which the infection was acquired." "" + "labia minora carcinoma" "A carcinoma that arises from the labia minora." "" + "skin carcinoma" "A carcinoma that arises from epithelial cells of the zone of skin" "" + "vulvar carcinoma" "A carcinoma that arises from epithelial cells of the mammalian vulva" "" + "paralytic lagophthalmos" "" + "lagophthalmos" "" + "" "true" + "aleukemic leukemia" "A leukemia characterized by the absence of leukemic cells in the peripheral blood." "" + "central nervous system leukemia" "Leukemia infiltrating the central nervous system structures." "" + "central nervous system hematopoietic neoplasm" "A primary or metastatic neoplasm of hematopoietic origin that affects the brain, meninges, or spinal cord. Representative examples include Hodgkin and non-Hodgkin lymphomas, histiocytic tumors, and leukemias." "" + "intrapelvic lymph node leukemic reticuloendotheliosis" "" + "hairy cell leukemia" "Hairy cell leukemia (HCL) is a rare type of leukemia in which abnormal B-lymphocytes are present in the bone marrow, spleen and peripheral blood. It is a slowly progressive chronic lymphocytic leukemia (CLL). The name comes from the abnormally shaped lymphocytes with hair-like projections." "" + "vagus nerve neoplasm" "A neoplasm involving a vagus nerve." "" + "glossopharyngeal nerve neoplasm" "A neoplasm involving a glossopharyngeal nerve." "" + "leukopenia" "A laboratory test result indicating a decreased number of white blood cells in the peripheral blood." "" + "acute dacryocystitis" "Acute form of dacryocystitis." "" + "dacryocystitis" "Inflammation of the lacrimal sac." "" + "phlegmonous dacryocystitis" "" + "carotid stenosis" "A narrowing of the carotid artery lumen. It is usually caused by the formation of an atherosclerotic plaque. Symptoms are usually present when there is severe narrowing or obstruction of the arterial lumen and manifest as ischemic cerebrovascular accidents." "" + "carotid artery disorder" "A disease involving the carotid artery segment." "" + "vertebrobasilar insufficiency" "Localized or diffuse reduction in blood flow through the vertebrobasilar arterial system, which supplies the brain stem; cerebellum; occipital lobe; medial temporal lobe; and thalamus. Characteristic clinical features include syncope; lightheadedness; visual disturbances; and vertigo. brain stem infarctions or other brain infarction may be associated." "" + "brain ischemia" "Diminished or absent blood supply to the brain caused by obstruction (thrombosis or embolism) of an artery resulting in neurologic damage." "" + "transient ischemic attack" "A brief attack (from a few minutes to an hour) of cerebral dysfunction of vascular origin, with no persistent neurological deficit." "" + "intra-abdominal lymph node mast cell malignancy" "" + "epidemic keratoconjunctivitis" "Keratoconjunctivitis resulting from infection by adenoviruses." "" + "adenoviridae infectious disease" "An infectious process caused by adenovirus. The virus may cause respiratory illness, conjunctivitis, gastroenteritis, and cystitis." "" + "viral conjunctivitis" "Conjunctivitis resulting from viral infection." "" + "lobomycosis" "A chronic, fungal, subcutaneous infection endemic in rural regions in South America and Central America. The causal organism is Lacazia labol." "" + "dermatomycosis" "Superficial infections of the skin or its appendages by any of various fungi." "" + "transient global amnesia" "A condition characterized by sudden, temporary, usually short-lived memory loss, not associated with a neurologic disorder. Affected individuals lose memory function for recent events and have a decreased ability to retain new information. It is usually a solitary event." "" + "balanoposthitis" "" + "balanitis" "An infectious or non-infectious inflammatory process that affects the glans penis. Symptoms include redness and pain of the glans penis and foreskin and discharge." "" + "posthitis" "An inflammatory disease involving a pathogenic inflammatory response in the prepuce of penis." "" + "obsolete relapsing fever" "" "true" + "louse-borne relapsing fever" "An infection that is caused by certain species of Rickettsia or Borrelia, which are transmitted to humans from infected lice; it is characterized by sudden fever, chills, headaches, myalgia, arthralgia, nausea, and possibly a rash. Symptoms usually persist for two to nine days, then disappear, with recurrence after several weeks if the patient remains untreated." "" + "relapsing fever" "Relapsing fever is an infection caused by bacteria of the genus Borrelia, excluding those responsible for Lyme disease belonging to the Borrelia burgdorferi complex." "" + "tick-borne relapsing fever" "An infection that is caused by certain species of Rickettsia or Borrelia, which are transmitted to humans from infected ticks; it is characterized by sudden fever, chills, headaches, myalgia, arthralgia, nausea, and possibly a rash. Symptoms usually persist for two to nine days, then disappear, with recurrence after several weeks if the patient remains untreated." "" + "Rickettsiosis" "A group of infectious diseases that is caused by Rickettsia." "" + "mechanical lagophthalmos" "" + "cicatricial lagophthalmos" "" + "acute sphenoidal sinusitis" "Acute form of sphenoid sinusitis." "" + "corpus luteum cyst" "A ovarian cyst (disease) that involves the corpus luteum." "" + "ovarian cyst" "" + "traumatic glaucoma" "" + "dementia" "Loss of intellectual abilities interfering with an individual's social and occupational functions. Causes include Alzheimer's disease, brain injuries, brain tumors, and vascular disorders." "" + "tinea unguium" "A fungal infection of the nail, usually caused by dermatophytes; yeasts; or nondermatophyte molds." "" + "nail infection" "An infectious process affecting the nail." "" + "Jaccoud syndrome" "" + "branch retinal artery occlusion" "An occlusion of a branch of the retinal artery." "" + "retinal artery occlusion" "An occlusion of the retinal artery." "" + "vertebral artery insufficiency" "A syndrome which occurs as a result of the occlusion of one of the vertebral arteries. It may be caused by atherosclerosis, embolism or hemorrhage. Collateral circulation through the circle of Willis is usually comprised as well. Clinical signs may include vertigo, nystagmus, dysarthria, ataxia and sensorimotor deficits. Clinical course may lead to persistence of neurologic deficits. Prognosis is variable with a substantial risk for recurrent infarction." "" + "intracranial arteriosclerosis" "Vascular diseases characterized by thickening and hardening of the walls of arteries inside the skull. There are three subtypes: (1) atherosclerosis with fatty deposits in the arterial intima; (2) Monckeberg's sclerosis with calcium deposits in the media and (3) arteriolosclerosis involving the small caliber arteries. Clinical signs include headache; confusion; transient blindness (amaurosis fugax); speech impairment; and hemiparesis." "" + "arteriosclerosis disorder" "A vascular disorder characterized by thickening and hardening of the walls of the arteries." "" + "central retinal artery occlusion" "Blockage of the central retinal artery." "" + "bladder leiomyoma" "A well-circumscribed benign smooth muscle neoplasm arising from the bladder. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern." "" + "bladder squamous papilloma" "A rare, benign neoplasm of bladder that is composed of papillary cores with overlying histologically benign squamous epithelium." "" + "mechanical entropion" "" + "cicatricial entropion" "" + "protein-deficiency anemia" "" + "deficiency anemia" "" + "gonococcal spondylitis" "An spondylitis caused by infection with Neisseria gonorrhoeae." "" + "severe pre-eclampsia" "Preeclampsia with a systolic blood pressure of 160 mmHg or higher, or a diastolic blood pressure of 110 mmHg or higher on two occasions at least 4 hours apart while on bedrest. It is associated with thrombocytopenia (platelets less than 100,000 per microliter), impaired liver function (twice normal elevation of hepatic transaminases; severe, persistent right upper quadrant or epigastric pain), progressive renal insufficiency (serum creatinine greater than 1.1 mg/dL or doubling of baseline in the absence of other renal disease), pulmonary edema, or new-onset cerebral or visual disturbances." "" + "hordeolum externum" "A hordeolum that results from obstruction and infection of an eyelash follicle and adjacent glands of Zeis or Moll glands. Follicle obstruction may be associated with blepharitis." "" + "hordeolum" "An acute, localized swelling of the eyelid that may be external or internal and usually is a pyogenic (typically staphylococcal) infection or abscess." "" + "blepharitis" "Inflammation of the eyelids near the eyelashes." "" + "exophthalmic ophthalmoplegia" "" + "facial paralysis" "Severe or complete loss of facial muscle motor function. This condition may result from central or peripheral lesions. Damage to CNS motor pathways from the cerebral cortex to the facial nuclei in the pons leads to facial weakness that generally spares the forehead muscles. facial nerve diseases generally results in generalized hemifacial weakness. neuromuscular junction diseases and muscular diseases may also cause facial paralysis or paresis." "" + "ophthalmoplegia" "Weakness or paralysis of at least one of the muscles controlling the movement of the eye. It results from degeneration of the muscles or the neural pathways involved in the eye movement. Representative disorders causing ophthalmoplegia include ocular myopathies and multiple sclerosis." "" + "acute proliferative glomerulonephritis" "Inflammation of the glomeruli status post infection with nephritogenic streptococci, most often group A beta hemolytic streptococcus." "" + "proliferative glomerulonephritis" "A constellation of renal disorders characterized by an increase number of cells in the glomerulus; these disorders generally present with nephrotic syndrome, and generally progress to end stage renal failure over a matter of weeks to years, depending on the etiology. Examples include IgA nephropathy, membranoproliferative glomerulonephritis, and rapidly progressive glomerulonephritis." "" + "crescentic glomerulonephritis" "A histopathologic term for a pattern of diseases characterized by extensive crescent formation in the glomeruli; patients present clinically with rapid deterioration of renal function, and possible progression to end-stage renal failure within weeks or months." "" + "benign secondary hypertension" "Mild to moderate high blood pressure that is caused by an underlying medical condition." "" + "benign renovascular hypertension" "" + "esophageal candidiasis" "Esophagitis resulting from Candida." "" + "fungal esophagitis" "Infection of the esophagus caused by fungi, most often candida albicans and candida tropicalis. It usually affects patients with immunodeficiency disorders or diabetes mellitus. Symptoms include dysphagia and pain on swallowing." "" + "acute cystitis" "An acute infection of the bladder. It is usually caused by bacteria. Signs and symptoms include increased frequency of urination, pain or burning during urination, fever, cloudy or bloody urine, and suprapubic pain." "" + "bacterial urinary tract infection" "A bacterial infectious process affecting any part of the urinary tract, most commonly the bladder and the urethra. Symptoms include urinary urgency and frequency, burning sensation during urination, lower abdominal discomfort, and cloudy urine." "" + "scrotum squamous cell carcinoma" "A rare squamous cell carcinoma that arises from the scrotum. It has been associated with exposure to environmental and industrial carcinogens. The prognosis depends on the extent of lymph node involvement." "" + "scrotal carcinoma" "A carcinoma that arises from epithelial cells of the scrotum." "" + "scrotum melanoma" "A melanoma (disease) that involves the scrotum." "" + "scrotum neoplasm" "A benign or malignant neoplasm that affects the scrotum." "" + "prepuce cancer" "A malignant neoplasm involving the prepuce." "" + "spermatic cord cancer" "A malignant neoplasm involving the spermatic cord." "" + "dissociated nystagmus" "" + "megaesophagus" "An abnormal dilation of the esophagus not due to obstruction." "" + "nontoxic goiter" "Sporadic enlargement of the thyroid gland that is not associated with changes in thyroid function or malignancy." "" + "" "true" + "prostate neoplasm" "A neoplasm (disease) that involves the prostate gland." "" + "proliferative diabetic retinopathy" "Advanced retinopathy due to diabetes mellitus characterized by the formation of new vessels in the retina. The new vessels are abnormal and fragile. If hemorrhage occurs due to the vascular fragility, there is increased risk of vision loss or blindness." "" + "background diabetic retinopathy" "An early stage of diabetic retinopathy that is characterized by retinal hemorrhage and exudate, but without proliferation of the blood vessels." "" + "obsolete right bundle branch block" "" "true" + "hole retinal cyst" "" + "degeneration of macula and posterior pole" "" + "submucous uterine fibroid" "" + "uterine corpus leiomyoma" "A benign smooth muscle neoplasm arising from the body of the uterus. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern." "" + "oculoglandular tularemia" "A tularemia that results in inflammation of eye and swelling of lymph glands in front of the ear." "" + "retinal dystrophies primarily involving Bruch's membrane" "A retinal dystrophy with etiology arising from Bruch's membrane, the site of drusen generation." "" + "inherited retinal dystrophy" "An instance of retinal degeneration that is caused by an inherited modification of the individual's genome." "" + "streptobacillus infectious disease" "" + "gram-negative bacterial infections" "Infections caused by bacteria that show up as pink (negative) when treated by the gram-staining method." "" + "internal pathological resorption of tooth" "" + "tooth resorption" "Resorption of calcified dental tissue, involving demineralization due to reversal of the cation exchange and lacunar resorption by osteoclasts. There are two types: external (as a result of tooth pathology) and internal (apparently initiated by a peculiar inflammatory hyperplasia of the pulp). (From Jablonski, Dictionary of Dentistry, 1992, p676)" "" + "obsolete lung cancer" "" "true" + "tooth hard tissue disease" "" + "mucocele of appendix" "Accumulation of mucus within the appendix." "" + "bronchus cancer" "A malignant neoplasm involving the bronchus" "" + "diverticulitis of colon" "Inflammation of the colonic diverticula, generally with abscess formation and subsequent perforation." "" + "obsolete porphyria" "" "true" + "erythropoietic protoporphyria" "A rare congenital metabolic disorder characterized by an inborn error of porphyrin-heme biosynthesis. Signs and symptoms include painful cutaneous photosensitivity leading to blistering and scarring of the exposed skin areas, erythrodontia, red discoloration of urine, hemolytic anemia, and splenomegaly." "" + "hepatic porphyria" "A group of metabolic diseases due to deficiency of one of a number of liver enzymes in the biosynthetic pathway of heme. They are characterized by the accumulation and increased excretion of porphyrins or its precursors. Clinical features include neurological symptoms (porphyria, acute intermittent), cutaneous lesions due to photosensitivity (porphyria cutanea tarda), or both (hereditary coproporphyria). Hepatic porphyrias can be hereditary or acquired as a result of toxicity to the hepatic tissues." "" + "inherited porphyria" "Porphyrias constitute a group of eight hereditary metabolic diseases characterized by intermittent neuro-visceral manifestations, cutaneous lesions or by the combination of both." "" + "obsolete Rift valley fever" "" "true" + "intestinal tuberculosis" "A tuberculosis that involves the intestine." "" + "gastrointestinal tuberculosis" "Tuberculosis that involves any region of the gastrointestinal tract, mostly in the distal ileum and the cecum. In most cases, mycobacterium tuberculosis is the pathogen. Clinical features include abdominal pain; fever; and palpable mass in the ileocecal area." "" + "obsolete crater-like holes of optic disc" "" "true" + "vaginal mullerian papilloma" "A benign papilloma that arises from the vagina in infants and young women." "" + "vaginal glandular neoplasm" "A benign or malignant neoplasm that arises from the vagina and is characterized by the presence of neoplastic glandular epithelial cells. Representative examples include adenoma, endometrioid adenocarcinoma, and clear cell adenocarcinoma." "" + "papilloma" "A benign epithelial neoplasm that projects above the surrounding epithelial surface and consists of villous or arborescent outgrowths of fibrovascular stroma." "" + "glandular papilloma" "" + "diphtheritic cystitis" "A cystits which involves inflammation and formation of a dense fibrous false membrane on the mucous membrane of the bladder." "" + "diphtheritic peritonitis" "A peritonitis which involves inflammation of peritoneal cavity by Corynebacterium diphtheriae." "" + "peritonitis" "Inflammation of the peritoneum due to infection by bacteria or fungi. Causes include liver disease, perforation of the gastrointestinal tract or biliary tract, and peritoneal dialysis. Patients usually present with abdominal pain and tenderness, fever, chills, and nausea and vomiting. It is an emergency medical condition that requires prompt medical attention and treatment." "" + "pancreatic mucinous ductal ectasia" "" + "exocrine pancreatic insufficiency" "Inability of the exocrine pancreas to produce and secrete an adequate amount of digestive enzymes into the small intestine. Patients present with symptoms of malabsorption syndrome, abdominal discomfort, and bloating. Causes include chronic pancreatitis, cystic fibrosis, and autoimmune disorders." "" + "chronic follicular conjunctivitis" "" + "chronic conjunctivitis" "Conjunctivitis that is persistent and long-standing." "" + "anatomical narrow angle borderline glaucoma" "" + "borderline glaucoma" "" + "diabetic cataract" "" + "toxic optic neuropathy" "" + "hypertrophy of tongue papillae" "" + "parasitic conjunctivitis" "" + "laryngeal cartilage cancer" "A malignant neoplasm involving the laryngeal cartilage." "" + "pedophilia" "A disorder characterized by recurrent sexual urges, fantasies, or behaviors involving sexual activity with a prepubescent child or children." "" + "ego-dystonic sexual orientation" "A gender identity disorder that is characterized by having a sexual orientation or an attraction that is at odds with one's idealized self-image, causing anxiety and a desire to change one's orientation or become more comfortable with one's sexual orientation." "" + "diffuse interstitial keratitis" "" + "interstitial keratitis" "" + "senile ectropion" "" + "obsolete Ehlers-Danlos syndrome" "" "true" + "reading disorder" "A learning disability involving difficulty reading resulting primarily from neurological factors which affect any part of the reading process." "" + "tinea profunda" "A dermatophytosis that involves the deep dermal layers." "" + "tinea manuum" "A dermatophytosis that involves the hands." "" + "hand disorder" "A disease or disorder that involves the manus." "" + "megaloblastic anemia" "Anemia characterized by the presence of unusually large erythroblasts in the bone marrow called megaloblasts. It is usually caused by vitamin B12 or folic acid deficiency. Other causes include toxins and drugs." "" + "macrocytic anemia" "Anemia that is characterized by increased red blood cell volume." "" + "labia majora carcinoma" "A carcinoma that arises from the labia majora." "" + "pure red-cell aplasia" "A disease characterized by normocytic, normochromic anemia, low hematocrit, reticulocytopenia, and selective erythroid hypoplasia." "" + "idiopathic aplastic anemia" "Aplastic anemia without a known cause." "" + "cerebral sarcoidosis" "Sarcoidosis of the cerebrum." "" + "sarcoidosis" "Sarcoidosis is a multisystemic disorder of unknown cause characterized by the formation of immune granulomas in involved organs." "" + "cardiac sarcoidosis" "Sarcoidosis affecting the tissues of the heart." "" + "non-familial restrictive cardiomyopathy" "" + "pulmonary sarcoidosis" "Sarcoidosis affecting the lung parenchyma. It is characterized by the presence of non-necrotizing granulomas in the lung tissues. It is manifested with dyspnea, cough, fever, night sweats, fatigue, and weight loss." "" + "secondary interstitial lung disease specific to adulthood associated with a systemic disease" "True" + "hypercalcemic sarcoidosis" "Sarcoidosis with a complication of hypercalcemia." "" + "perforation of bile duct" "A rupture in the wall of the extrahepatic or intrahepatic bile duct due to traumatic or pathologic processes." "" + "bile duct disorder" "A disease involving the bile duct." "" + "alexia" "A receptive visual aphasia characterized by the loss of a previously possessed ability to comprehend the meaning or significance of handwritten words, despite intact vision. This condition may be associated with posterior cerebral artery infarction (infarction, posterior cerebral artery) and other brain diseases." "" + "inherited aplastic anemia" "An inborn condition characterized by deficiencies of red cell precursors that sometimes also includes leukopenia and thrombocytopenia." "" + "aplastic anemia" "Anemia resulting from bone marrow failure (aplastic or hypoplastic bone marrow). The production of erythroblasts and red cells is markedly decreased, and it may be associated with decreased production of granulocytes (granulocytopenia) and platelets (thrombocytopenia) as well. Aplastic anemia may be idiopathic or secondary due to bone marrow damage by toxins, radiation, or immunologic factors." "" + "bejel" "A chronic skin and tissue disease caused by infection by the endemicum subspecies of the spirochete Treponema pallidum." "" + "syphilis" "A contagious bacterial infection caused by the spirochete Treponema pallidum. It is a sexually transmitted disorder, although it can also be transmitted from the mother to the fetus in utero. Typically, it is initially manifested with a single sore which heals without treatment. If the infection is left untreated, the initial stage is followed by skin rash and mucous membrane lesions. A late stage follows, which is characterized by damage of the internal organs, including the nervous system." "" + "basilar artery occlusion" "" + "corneal argyrosis" "" + "posterior corneal pigmentation" "" + "scleritis" "Inflammation of the sclera." "" + "gonococcal bursitis" "An bursitis caused by infection with Neisseria gonorrhoeae." "" + "gonococcal synovitis" "An synovitis (disease) caused by infection with Neisseria gonorrhoeae." "" + "synovitis" "Inflammation of a synovial membrane." "" + "gonococcal infection of joint" "" + "urethral intrinsic sphincter deficiency" "" + "muscular disorder" "Acquired, familial, and congenital disorders of skeletal muscle and smooth muscle." "" + "central pterygium" "" + "progressive peripheral pterygium" "" + "supraglottis cancer" "A malignant neoplasm that affects the supraglottic area of the larynx. The vast majority of cases are squamous cell carcinomas." "" + "supraglottis neoplasm" "A benign or malignant neoplasm that affects the supraglottic area of the larynx." "" + "balanitis xerotica obliterans" "A chronic and progressive inflammatory process that affects the glans penis and the foreskin. It presents with white atrophic patches in the glans of penis and foreskin and it is often associated with the development of a sclerotic, whitish ring in the tip of the foreskin that may lead to phimosis. It is also known as lichen sclerosus of the penis." "" + "childhood disintegrative disease" "A pediatric disorder characterized by normal development for at least the first two years of life followed by a severe regression in language, social interaction, bowel or bladder control, and/or motor skills. The affected individual may also exhibit repetitive and stereotyped patterns of behavior similar to autism." "" + "active cochleovestibular Meniere disease" "" + "Meniere disease" "A disease of the inner ear (labyrinth) that is characterized by fluctuating sensorineural hearing loss; tinnitus; episodic vertigo; and aural fullness. It is the most common form of endolymphatic hydrops." "" + "active vestibular Meniere disease" "" + "active cochlear Meniere disease" "" + "urethral syndrome" "" + "benign vaginal mixed epithelial and mesenchymal neoplasm" "A non-metastasizing neoplasm that arises from the vagina and is characterized by the presence of benign epithelial and benign mesenchymal elements." "" + "trigonitis" "Inflammation of the trigone of the urinary bladder." "" + "occlusion of tributary of retinal vein" "" + "central retinal vein occlusion" "Blockage of the central retinal vein." "" + "tuberous sclerosis" "Hereditary disease characterized by seizures, mental retardation, developmental delay, and skin and ocular lesions. First signs usually occur during infancy or childhood but in rare cases may not occur until 2nd or 3rd decade." "" + "neurocutaneous syndrome" "A group of disorders characterized by ectodermal-based malformations and neoplastic growths in the skin, nervous system, and other organs." "" + "hamartoma" "A benign and excessive tumor-like growth of mature cells and normal tissues which grow in a disorganized pattern." "" + "paranasal sinus disorder" "A disease involving the paranasal sinus." "" + "nasal disorder" "A disease involving the nose." "" + "neonatal infective mastitis" "" + "mastitis" "Inflammation of breast tissue during lactation or postpartum due to an obstructed duct or infection. Mastitis can also occur in non-breastfeeding women, and rarely in men." "" + "tetanus neonatorum" "A syndrome of generalized rigidity with muscle spasms and seizures in the neonatal period resulting from Clostridium tetani toxin production." "" + "tetanus" "A serious infectious disorder that follows wound contamination by the Gram-positive bacterium Clostridium tetani. The bacteria produce a neurotoxin called tetanospasmin, which causes muscle spasm in the jaw and other anatomic sites." "" + "obsolete osteopetrosis" "" "true" + "purulent labyrinthitis" "A labyrinthitis which is a bacterial infectious disease of the inner ear, often causing deafness and loss of vestibular function. This is caused when bacteria spread to the inner ear during the course of severe acute otitis media, purulent meningitis, or an enlarging cholesteatoma." "" + "cornea squamous cell carcinoma" "A rare squamous cell carcinoma that arises from the cornea." "" + "eye carcinoma" "A carcinoma that arises from epithelial cells of the eye" "" + "cornea cancer" "A malignant neoplasm involving the cornea." "" + "hyperparathyroidism" "Hyperfunction of the parathyroid glands resulting in the overproduction of parathyroid hormone. It may be primary or secondary; primary hyperparathyroidism is caused by parathyroid adenoma, parathyroid hyperplasia, parathyroid carcinoma, and multiple endocrine neoplasia. It is associated with hypercalcemia and hypophosphatemia. Signs and symptoms include weakness, fatigue, nausea, vomiting, constipation, depression, bone pain, osteoporosis, cystic bone lesions, and kidney stones. Secondary hyperparathyroidism is caused by the chronic stimulation of the parathyroid glands in patients with chronic renal failure, rickets, and malabsorption syndromes." "" + "interval angle-closure glaucoma" "" + "primary angle-closure glaucoma" "An angle-closure glaucoma characterized by closure of the anterior chamber angle by an intrinsic defect such that aqueous outflow is blocked and the intraocular pressure becomes inappropriately elevated leading to optic nerve damage and visual field loss. Primary angle-closure glaucoma has symptom progressive peripheral vision loss, decreased vision, and pain, redness, and headache in acute cases. Primary angle closure glaucoma can be caused by anatomically narrow angle, defects in the trabecular meshwork, and iris abnormalities. Primary angle-closure glaucoma has a strong genetic component." "" + "paranasal sinus lymphoma" "A lymphoma that arises from the paranasal sinus. Representative examples include diffuse large B-cell lymphoma and extranodal NK/T-cell lymphoma, nasal type." "" + "angle-closure glaucoma" "The sudden increase of intraocular pressure, resulting in pain and an abrupt decrease in visual acuity." "" + "subserous uterine fibroid" "" + "optic disk drusen" "Optic disk bodies composed primarily of acid mucopolysaccharides that may produce pseudopapilledema (elevation of the optic disk without associated intracranial hypertension) and visual field deficits. Drusen may also occur in the retina (see retinal drusen). (Miller et al., Clinical Neuro-Ophthalmology, 4th ed, p355)" "" + "optic nerve disorder" "A non-neoplastic or neoplastic disorder affecting the optic nerve (second cranial nerve)." "" + "tibial collateral ligament bursitis" "" + "maxillary sinus carcinoma" "A carcinoma that arises from the maxillary sinus. Representative examples include squamous cell carcinoma, adenocarcinoma, and adenoid cystic carcinoma." "" + "jaw cancer" "A malignant neoplasm involving the jaw skeleton" "" + "digestive system carcinoma" "A malignant neoplasm that arises from the epithelium of any part of the digestive system. Representative examples include colorectal carcinoma, esophageal carcinoma, and pancreatic carcinoma." "" + "maxillary sinus neoplasm" "A benign or malignant neoplasm that affects the maxillary sinus. Representative examples of benign neoplasms include Schneiderian papilloma and salivary gland-type adenoma. Representative examples of malignant neoplasms include carcinoma and lymphoma." "" + "cortical senile cataract" "A senile cataract that involves the lens cortex." "" + "cortical cataract" "A cataract (disease) that involves the lens cortex." "" + "cholestasis" "Impairment of the bile flow caused by obstruction within the liver, or outside the liver in the bile duct system." "" + "alveolar periostitis" "A condition sometimes occurring after tooth extraction, particularly after traumatic extraction, resulting in a dry appearance of the exposed bone in the socket, due to disintegration or loss of the blood clot. It is basically a focal osteomyelitis without suppuration and is accompanied by severe pain (alveolalgia) and foul odor. (Dorland, 28th ed)" "" + "female infertility of uterine origin" "" + "eclampsia" "A potentially life-threatening pregnancy-related disorder characterized by tonic-clonic seizures in association with hypertension after the twentieth week of gestation and up to six weeks postpartum and in the absence of other potential causes of seizures." "" + "toxemia of pregnancy" "A pregnancy induced hypertensive state that occurs after 20 weeks of gestation characterized by an increase in blood pressure, along with body swelling and proteinuria." "" + "obsolete vaginal carcinosarcoma" "" "true" + "frontal sinus cancer" "A malignant neoplasm involving the frontal sinus." "" + "frontal sinus neoplasm" "A benign or malignant neoplasm that affects the frontal sinus. Representative examples of benign neoplasms include Schneiderian papilloma and salivary gland-type adenoma. Representative examples of malignant neoplasms include carcinoma and lymphoma." "" + "paranasal sinus neoplasm" "A benign or malignant neoplasm that affects the paranasal sinuses. Representative examples of benign neoplasms include Schneiderian papilloma and salivary gland-type adenoma. Representative examples of malignant neoplasms include carcinoma and lymphoma." "" + "paranasal sinus sarcoma" "A malignant soft tissue neoplasm that arises from the paranasal sinus." "" + "obsolete patent foramen ovale" "" "true" + "photokeratitis" "Injury to the cornea secondary to ultraviolet light." "" + "radiation-induced disorder" "A non-neoplastic or neoplastic disorder which results from exposure to radiation. Examples of non-neoplastic disorders include dermatitis, enteritis, stomatitis, pneumonitis, and cerebritis. Examples of neoplastic disorders include myelodysplastic syndromes, leukemias, and sarcomas." "" + "favism" "A condition associated with glucose-6-phosphate dehydrogenase deficiency, which is characterized by hemolysis." "" + "G6PD deficiency" "An X-linked recessive inherited disorder caused by mutations in the G6PD gene. It is characterized by the absence or presence of very low levels of glucose-6-phosphate dehydrogenase. Patients develop hemolytic anemia usually in response to infection or exposure to drugs." "" + "dentine erosion" "A tooth erosion, non-bacterial that involves the dentine." "" + "tooth erosion, non-bacterial" "Progressive loss of tooth tissue by chemical processes that do not involve bacterial action. (Jablonski, Dictionary of Dentistry, 1992, p296)" "" + "ethmoid sinus cancer" "A malignant neoplasm involving the ethmoid sinus." "" + "ethmoidal sinus neoplasm" "A benign or malignant neoplasm that affects the ethmoid sinus. Representative examples of benign neoplasms include Schneiderian papilloma and salivary gland-type adenoma. Representative examples of malignant neoplasms include carcinoma and lymphoma." "" + "polyneuropathy in collagen vascular disease" "" + "eversion of lacrimal punctum" "" + "stenosis of lacrimal punctum" "" + "stenosis of lacrimal passage" "" + "acquired tear duct stenosis" "" + "nasolacrimal duct disorder" "A disease or disorder that involves the nasolacrimal duct." "" + "gastrin secretion abnormality" "" + "endocrine pancreas disorder" "A disease involving the endocrine pancreas." "" + "infective urethral stricture" "" + "urethral stricture" "Narrowing of any part of the urethra. It is characterized by decreased urinary stream and often other obstructive voiding symptoms." "" + "ulcer of anus and rectum" "" + "post-vaccinal encephalitis" "An acute or subacute inflammatory process of the central nervous system characterized histologically by multiple foci of perivascular demyelination. Symptom onset usually occurs several days after an acute viral infection or immunization, but it may coincide with the onset of infection or rarely no antecedent event can be identified. Clinical manifestations include confusion, somnolence, fever, nuchal rigidity, and involuntary movements. The illness may progress to coma and eventually be fatal. (Adams et al., Principles of Neurology, 6th ed, p921)" "" + "posterior scleritis" "" + "chronic duodenal ileus" "" + "duodenal obstruction" "Blockage of the normal flow of stomach contents through the duodenum." "" + "prostate calculus" "A concretion in the prostate." "" + "lower urinary tract calculus" "A urolithiasis that involves the lower urinary tract." "" + "acute gonococcal cystitis" "Acute form of gonococcal cystitis." "" + "gonococcal cystitis" "An cystitis caused by infection with Neisseria gonorrhoeae." "" + "dermoid cyst of skin" "A benign hamartomatous tumor that possesses various epidermal derivatives and is due to sequestration of skin along the lines of embryonic closure." "" + "dermoid cyst" "A mature teratoma characterized by the presence of a cyst which is lined by mature tissue resembling the epidermis and the epidermal appendages. It occurs in the ovary, testis, and extragonadal sites including central nervous system and skin." "" + "skin neoplasm" "A benign or malignant tumor involving the skin. Representative examples of benign skin neoplasms include the benign melanocytic skin nevus, acanthoma, sebaceous adenoma, sweat gland adenoma, lipoma, hemangioma, fibroma, and benign fibrous histiocytoma. Representative examples of malignant skin neoplasms include basal cell carcinoma, squamous cell carcinoma, melanoma, and Kaposi sarcoma." "" + "vaginal squamous papilloma" "A benign papillary neoplasm that arises from the vagina and is characterized by the presence of a fibrovascular stalk lined by normal squamous epithelium. There is no evidence of atypia or relation to human papillomavirus." "" + "vaginal squamous tumor" "A benign or malignant neoplasm that arises from the squamous epithelium of the vagina. Representative examples include condyloma acuminatum, squamous papilloma, and squamous cell carcinoma." "" + "premature ejaculation" "A disorder characterized by persistent or recurrent ejaculation before or after penetration and before the person wishes it." "" + "uterine corpus adenomatoid tumor" "A benign mesothelial tumor of the serosal surface of the uterine body and myometrium. It is characterized by the presence of gland-like structures." "" + "adenomatoid tumor" "A benign neoplasm arising from mesothelial cells. It is characterized by the formation of glandular and tubular patterns. It can occur in several anatomic sites including the pleura, peritoneum, and epididymis." "" + "benign mesothelioma" "A benign proliferative neoplasm made up of epithelial and mesenchymal cells of the mesothelium which make up part of the serosal covering and lining of various organ surfaces within the body." "" + "benign neoplasm of corpus uteri" "A benign neoplasm that involves the body of uterus." "" + "mature cataract" "A cataract that produces swelling and opacity of the entire lens; cataracts are removed before maturity." "" + "endometrial stromal nodule" "A non-infiltrating, benign mesenchymal neoplasm arising from the uterine corpus. It is characterized by the presence of neoplastic cells that resemble the cells of the proliferative phase of endometrial stroma and numerous thin-walled small vessels. It usually presents with abnormal uterine bleeding and menorrhagia." "" + "mixed endometrial stromal and smooth muscle tumor" "A benign or malignant mesenchymal neoplasm of the uterine corpus. Representative examples include leiomyoma, leiomyosarcoma, and endometrial stromal sarcoma." "" + "malignant renovascular hypertension" "" + "malignant secondary hypertension" "" + "uterine inflammatory disease" "" + "hepatic infarction" "" + "nutmeg liver" "" + "neurofibroma of spinal cord" "A neurofibroma that arises from the spinal cord." "" + "spinal cord lipoma" "A benign adipose tissue neoplasm of the spinal cord. It is usually associated with dysraphism in which the intraspinal component communicates with a subcutaneous lipoma through a defect in the posterior elements of the spine. Non-dysraphic intramedullary spinal cord lipomas are very rare." "" + "central nervous system lipoma" "A rare benign adipose tissue neoplasm of the central nervous system frequently found in midline locations such as the corpus callosum, the quadrigeminal plate, the hypothalamus, the spinal canal or the cauda equina. Some contain Schwann cells, bone, cartilage or hamartomatous blood vessels." "" + "benign neoplasm of spinal cord" "A benign neoplasm that involves the spinal cord." "" + "neonatal urinary tract infectious disease" "" + "epiphora due to insufficient drainage" "" + "excessive tearing" "Diseases of the lacrimal apparatus." "" + "Pthirus pubis infestation" "Infestation of the pubic hair by the pthirus pubis parasite which results in mild to intense itching and macular lesions. The parasite, also known as crab lice, is transmitted through skin to skin contact with an infected person or through direct contact with infested objects." "" + "lice infestation" "A contagious infestation of parasitic insects found on the head (Pediculus humanus capitis), body (Pediculus humanus corporis), or pubic area (Pthirus pubis) that typically cause itching and rash." "" + "plantar wart" "A wart in the plantar surface of the foot. It is caused by human papillomavirus." "" + "foot disorder" "A disease or disorder that involves the pes." "" + "primary viral infectious disease" "The initial viral infectious disase that causes illness." "" + "obsolete epidermodysplasia verruciformis" "" "true" + "chancroid" "Chancroid is a bacterial infection that is spread through sexual contact. It is caused by a type of bacteria called Haemophilus ducreyi. Chancroid is characterized by a small bump on the genital which becomes a painful ulcer. Men may have just one ulcer, but women often develop four or more.About half of the people who are infected with a chancroid will develop enlarged inguinal lymph nodes, the nodes located in the fold between the leg and the lower abdomen. In some cases, the nodes will break through the skin and cause draining abscesses. The swollen lymph nodes and abscesses are often called buboes. Chancroid infections can be treated with antibiotics, including azithromycin, ceftriaxone, ciprofloxacin, and erythromycin. Large lymph node swellings need to be drained, either with a needle or local surgery." "" + "bacterial sexually transmitted disease" "Bacterial diseases that are potentially transmitted or propagated by sexual conduct." "" + "hypermobility syndrome" "" + "localized anterior staphyloma" "" + "equatorial staphyloma" "" + "staphyloma posticum" "" + "acute tympanitis" "" + "myringitis bullosa hemorrhagica" "A tympanic membrane disease that is characterized by blisters on the eardrum resulting from infection." "" + "anterior scleritis" "" + "female breast central part cancer" "" + "squamous cell neoplasm" "A neoplasm that is composed of squamous epithelial cells. Squamous cell carcinoma is a representative example." "" + "obsolete familial combined hyperlipidemia" "A type of familial lipid metabolism disorder characterized by a variable pattern of elevated plasma cholesterol and/or triglycerides. Multiple genes on different chromosomes may be involved, such as the major late transcription factor (upstream stimulatory factors) on chromosome 1." "" "true" + "chronic subinvolution of uterus" "" + "adhesions of uterus" "" + "hypoglossal nerve disorder" "A disease involving the hypoglossal nerve." "" + "tetanic cataract" "A cataract resulting from hypocalcemia." "" + "parasitic eyelid infestation" "" + "parasitic eye infection" "Mild to severe infections of the eye and its adjacent structures (adnexa) by adult or larval protozoan or metazoan parasites." "" + "squamous blepharitis" "" + "obsolete patent ductus arteriosus" "" "true" + "extrapyramidal and movement disease" "" + "scleroperikeratitis" "" + "acute closed-angle glaucoma" "Acute form of angle-closure glaucoma." "" + "facial neuralgia" "Neuralgic syndromes which feature chronic or recurrent facial pain as the primary manifestation of disease. Disorders of the trigeminal and facial nerves are frequently associated with these conditions." "" + "neuralgia" "A pain disorder characterize by pain in the distribution of a nerve or nerves" "" + "facial nerve disorder" "A disease involving the facial nerve." "" + "cranial neuralgia" "A neuralgia that involves the cranial neuron projection bundle." "" + "multiple cranial nerve palsy" "" + "focal labyrinthitis" "A labyrinthitis which is an infectious inflammatory disease of a circumscribed area of either the vestibular or the cochlear portion of the labyrinth, or of both together. This is caused by a chronic suppurative otitis media, mastoiditis, or cholesteatoma." "" + "hypoactive sexual desire disorder" "A disorder characterized by a recurrent or persistent lack of desire for sexual activity. The lack of sexual desire is not attributable to another psychiatric disorder or to the physiological effects of substance use or a general medical condition." "" + "hypolipoproteinemia" "Conditions with abnormally low levels of lipoproteins in the blood. This may involve any of the lipoprotein subclasses, including alpha-lipoproteins (high-density lipoproteins); beta-lipoproteins (low-density lipoproteins); and prebeta-lipoproteins (very-low-density lipoproteins)." "" + "sick sinus syndrome" "A constellation of signs and symptoms which may include syncope, fatigue, dizziness, and alternating periods of bradycardia and atrial tachycardia, which is caused by sinoatrial node dysfunction." "" + "obsolete hypobetalipoproteinemia" "" "true" + "white piedra" "A superficial mycosis due to T beigelii that is characterized by a soft, friable, beige nodule of the distal ends of hair shafts." "" + "acquired color blindness" "Non-heritable difficulty in distinguishing colors." "" + "nerve plexus disorder" "A disease that involves the nerve plexus." "" + "somatization disorder" "Disorders having the presence of physical symptoms that suggest a general medical condition but that are not fully explained by a another medical condition, by the direct effects of a substance, or by another mental disorder. The symptoms must cause clinically significant distress or impairment in social, occupational, or other areas of functioning. In contrast to factitious disorders and malingering, the physical symptoms are not under voluntary control. (apa, dsm-V)" "" + "irregular astigmatism" "" + "bacterial esophagitis" "An acute bacterial infection that affects the esophagus. Symptoms include severe pain on swallowing and retrosternal pain. Endoscopic examination reveals esophageal mucosal ulcerations and pseudomembranous formations." "" + "lacrimal duct obstruction" "Blockage of the tear duct." "" + "visual pathway disorder" "A disorder of the neural pathway from the optic nerve to the visual cortex." "" + "amenorrhea" "The absence of menses in a woman who has achieved reproductive age." "" + "acute gonococcal salpingitis" "Acute form of gonococcal salpingitis." "" + "acute gonococcal prostatitis" "Acute form of gonococcal prostatitis." "" + "gonococcal prostatitis" "An prostatitis (disease) caused by infection with Neisseria gonorrhoeae." "" + "obsolete interstitial cystitis" "" "true" + "obsolete schistosomiasis" "" "true" + "uterine corpus epithelioid leiomyoma" "A morphologic variant of uterine corpus leiomyoma characterized by the presence of round or polygonal epithelioid smooth muscle cells forming clusters." "" + "uterine corpus dissecting leiomyoma" "A rare morphologic variant of uterine corpus leiomyoma. Macroscopically, it is characterized by large, fungating, and multinodular neoplasm masses arising from the uterine corpus, and extending into the broad ligament or the peritoneal cavity. Microscopically, it shows neoplastic smooth muscle cells infiltrating the myometrium. The neoplastic cells are arranged in a micronodular pattern. Hydropic changes and increased vascularity are also present." "" + "uterus interstitial leiomyoma" "" + "uterine corpus myxoid leiomyoma" "A morphologic variant of uterine corpus leiomyoma characterized by extensive myxoid degeneration of the neoplasm connective tissue stroma." "" + "uterine corpus lipoleiomyoma" "A rare morphologic variant of uterine corpus leiomyoma characterized by the presence of scattered islands of mature adipocytes within the smooth muscle neoplasm." "" + "uterine corpus bizarre leiomyoma" "A morphologic variant of uterine corpus leiomyoma characterized by significant cytologic atypia. The atypical cells are large with pleomophic hyperchromatic nuclei." "" + "bizarre leiomyoma" "A morphologic variant of leiomyoma characterized by the presence of pleomorphic muscle cells with bizarre hyperchromatic nuclei and eosinophilic cytoplasm." "" + "nuclear senile cataract" "A senile cataract that involves the lens nucleus." "" + "nuclear cataract" "A cataract (disease) that involves the lens nucleus." "" + "Morgagni cataract" "A form of hypermature cataract formed by liquefaction of the cortex and sinking of the dense nucleus to the bottom of the capsular bag." "" + "hypermature cataract" "" + "female breast lower-outer quadrant cancer" "" + "primary lacrimal atrophy" "" + "small intestine lymphoma" "A non-Hodgkin or Hodgkin lymphoma that arises from the small intestine." "" + "contact blepharoconjunctivitis" "" + "blepharoconjunctivitis" "Inflammation of both the eyelids and the conjunctiva." "" + "rubeosis iridis" "" + "splenic artery aneurysm" "" + "Brucella canis brucellosis" "A brucellosis involving an infection caused by Brucella canis [NCBITaxon:36855] in dogs and humans. The disease has symptom fever, has symptom sweats, has symptom weakness, has symptom weight loss, has symptom headache, has symptom lymphadenopathy and has symptom splenomegaly." "" + "Tietze syndrome" "Idiopathic painful nonsuppurative swellings of one or more costal cartilages, especially of the second rib. The anterior chest pain may mimic that of coronary artery disease." "" + "algoneurodystrophy" "" + "complex regional pain syndrome" "Complex regional pain syndrome (CRPS) is a rare neurologic disease painful progressive condition that corresponds to a group of disorders characterized by a disproportionate spontaneous or stimulus-induced pain, accompanied by a variably mixed myriad of autonomic and motor disorders including symptoms such as swelling, allodynia, skin blood supply and trophic disturbances. CRPS most often affects one of the arms, legs, hands, or feet and usually occurs after an injury or trauma to that limb." "" + "folic acid deficiency anemia" "" + "malignant parietal pleura tumor" "" + "malignant visceral pleura tumor" "" + "aorta atresia" "An aortic disease that is characterized by an absence of an opening from the left ventricle of the heart into the aorta." "" + "residual stage angle-closure glaucoma" "" + "obsolete autoimmune polyendocrinopathy syndrome" "" "true" + "bipolar I disorder" "A bipolar disorder that is characterized by at least one manic or mixed episode." "" + "phaeohyphomycosis" "An opportunistic fungal infection caused by any of a variety of normally saprophytic fungi with hyaline hyphal elements. For example, Fusarium spp. infect neutropenic patients to cause pneumonia, fungemia, and disseminated infection with cutaneous lesions." "" + "alternariosis" "Opportunistic fungal infection by a member of Alternaria genus." "" + "paraurethral gland cancer" "A malignant neoplasm involving the paraurethral gland." "" + "paraurethral gland neoplasm" "A neoplasm (disease) that involves the paraurethral gland." "" + "acute poststreptococcal glomerulonephritis" "Acute post streptococcal glomerulonephritis is an immunologic response of the kidney to infection, characterized by the sudden appearance of edema, hematuria, proteinuria and hypertension. It is essentially a disease of childhood that accounts for approximately 90% of renal disorders in children. The disease occurs especially in children between the ages of 2 and 12 years and young adults, and more often in male than in female." "" + "glomerulonephritis" "A renal disorder characterized by damage in the glomeruli. It may be acute or chronic, focal or diffuse, and it may lead to renal failure. Causes include autoimmune disorders, infections, diabetes, and malignancies." "" + "acute diffuse glomerulonephritis" "An acute inflammation of the glomeruli, in which all glomeruli are affected, resulting in acute renal failure." "" + "diffuse glomerulonephritis" "Inflammation of the glomeruli, in which all glomeruli are affected, resulting in renal failure." "" + "obsolete vestibular nystagmus" "" "true" + "geniculate ganglionitis" "Diseases of the facial nerve or nuclei. Pontine disorders may affect the facial nuclei or nerve fascicle. The nerve may be involved intracranially, along its course through the petrous portion of the temporal bone, or along its extracranial course. Clinical manifestations include facial muscle weakness, loss of taste from the anterior tongue, hyperacusis, and decreased lacrimation." "" + "sensory ganglionopathy" "A disease or disorder that involves the sensory ganglion." "" + "toxic labyrinthitis" "A labyrinthitis induced by alcohol, drug ingestion, or occasionally, inhaled substances that are toxic to the inner ear. Drugs like aminoglycosides, furosemide, ethacrynic acid, acetylsalicyclic acid, amiodarone, quinine, cisplatinum, barbiturates, quinine, anti-Alzheimer's medications, anticonvulsants, antidepressants, and anxiolytics can be ototoxic." "" + "epicondylitis" "Inflammation of the lateral epicondyle." "" + "renal artery atheroma" "A atherosclerosis that involves the renal artery." "" + "renal artery disease" "A disease involving the renal artery." "" + "infertility due to extratesticular cause" "" + "male infertility" "The inability of the male to effect fertilization of an ovum after a specified period of unprotected intercourse. Male sterility is permanent infertility." "" + "acquired hypertrophic pyloric stenosis" "An instance of hypertrophic pyloric stenosis that is acquired during the lifetime of the individual." "" + "anus cancer" "A malignant neoplasm involving the anus" "" + "anus neoplasm" "A benign or malignant neoplasm that affects the anal canal or anal margin. Representative examples of benign neoplasms include squamous papilloma and papillary hidradenoma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and melanoma." "" + "rectal cancer" "A primary or metastatic malignant neoplasm that affects the rectum. Representative examples include carcinoma, lymphoma, and sarcoma." "" + "median rhomboid glossitis" "" + "glossitis" "Inflammation of the tongue." "" + "toxic shock syndrome" "A rare acute life-threatening systemic bacterial noncontagious illness caused by exotoxins from bacteria of either the Streptococcus pyogenes or Staphylococcus aureus type. It is characterized by high fever, hypotension, rash, multi-organ dysfunction, and cutaneous desquamation during the early convalescent period. The toxins affect the host immune system, causing an exuberant and pathological host inflammatory response. Laboratory findings include leukocytosis, elevated prothrombin time, hypoalbuminemia, hypocalcemia, and pyuria." "" + "bacteriuria" "The presence of bacteria in the urine which is normally bacteria-free. These bacteria are from the urinary tract and are not contaminants of the surrounding tissues. Bacteriuria can be symptomatic or asymptomatic. Significant bacteriuria is an indicator of urinary tract infection." "" + "urinary system disorder" "A disease involving the renal system." "" + "blue toe syndrome" "A condition that is caused by recurring atheroembolism in the lower extremities. It is characterized by cyanotic discoloration of the toes, usually the first, fourth, and fifth toes. Discoloration may extend to the lateral aspect of the foot. Despite the gangrene-like appearance, blue toes may respond to conservative therapy without amputation." "" + "cholesterol embolism" "Blocking of a blood vessel by cholesterol-rich atheromatous deposits, generally occurring in the flow from a large artery to small arterial branches. It is also called arterial-arterial embolization or atheroembolism which may be spontaneous or iatrogenic. Patients with spontaneous atheroembolism often have painful, cyanotic digits of acute onset." "" + "abducens nerve neoplasm" "A neoplasm involving a abducens nerve." "" + "abducens nerve disorder" "A non-neoplastic or neoplastic disorder affecting the abducens nerve (sixth cranial nerve)." "" + "lateral cystocele" "" + "midline cystocele" "" + "Allen-Masters syndrome" "A syndrome characterized by laceration in the posterior leaf of broad ligament along with abnormally mobile cervix." "" + "anus lymphoma" "A usually large cell non-Hodgkin lymphoma of B-cell phenotype, arising from the anus. Lymphomas originating from the anal region are rare in the general population, but they are seen with a higher frequency in HIV-positive patients, particularly homosexual men." "" + "rectum lymphoma" "An extranodal lymphoma that arises from the rectum. The majority are B-cell non-Hodgkin lymphomas." "" + "ovarian disorder" "A disease involving the ovary." "" + "pulp erosion" "A tooth erosion, non-bacterial that involves the dental pulp." "" + "obsolete malignant anus melanoma" "" "true" + "spinal cord lymphoma" "A non-Hodgkin or Hodgkin lymphoma that arises in the spinal cord as a primary lesion." "" + "primary central nervous system lymphoma" "A non-Hodgkin or Hodgkin lymphoma that arises in the brain or spinal cord as a primary lesion. There is no evidence of lymphoma outside the central nervous system at the time of diagnosis." "" + "spinal cord melanoma" "A melanoma (disease) that involves the spinal cord." "" + "primary melanoma of the central nervous system" "A melanoma that affects the central nervous system. It is characterized by pleomorphism, melanin pigmentation, a high mitotic rate, necrosis, and hemorrhage. It is a highly aggressive and radioresistant tumor. The prognosis is usually poor." "" + "spinal cord sarcoma" "A sarcoma that arises from the spinal cord." "" + "central nervous system sarcoma" "A sarcoma that arises from the central nervous system." "" + "acute retrobulbar neuritis" "Acute form of retrobulbar neuritis." "" + "retrobulbar neuritis" "" + "obstructive hydrocephalus" "An abnormal accumulation of cerebrospinal fluid within the ventricles of the brain that occurs as a consequence of an obstruction at any location within the ventricular system that prevents cerebrospinal fluid flowing into the subarachnoid space." "" + "bilateral hyperactive labyrinth" "" + "inner ear disorder" "A non-neoplastic or neoplastic disorder affecting the inner ear. Causes are inner ear infections, head injuries, and neoplasms (e.g., acoustic schwannoma). Symptoms include dizziness, imbalance, nausea, and vision problems." "" + "uveal disorder" "A non-neoplastic or neoplastic disorder that affects the uvea. Representative examples include uveitis, chorioretinitis, and uveal melanoma." "" + "rheumatic congestive heart failure" "" + "rheumatic heart disease" "An autoinflammatory condition following an infection with Group A Beta Hemolytic Streptococcus (GABHS), in which the heart is attacked by antibodies formed in reaction to a recent GABHS infection. Chief anatomic changes of the valve include leaflet thickening, commissural fusion, and shortening and thickening of the tendinous cords, all of which can result in valvular dysfunction." "" + "obsolete central neurocytoma" "" "true" + "selective IgG subclass deficiency" "A classification of dysgammaglobulinemias characterized by low or undetectable serum levels of one of the four immunoglobulin class G (IgG) subclasses. Selective IgG1 deficiency is rare and primarily decreases the immune response to bacterial protein antigens. Selective IgG2 deficiency is the most common subclass deficiency among children and primarily leads to an inadequate response to bacterial polysaccharide antigens. Selective IgG3 deficiency is the most common subclass deficiency among adults and also primarily lowers the response to bacterial proteins. Selective IgG4 deficiency may be a clinically insignificant developmental variant, as IgG4 is a subclass that is virtually undetectable until the end of the first decade of life. Low levels of any IgG subclass will reduce the immune system's effectiveness and thus the clinical presentation of these diseases is usually recurrent infection, particularly by encapsulated bacteria." "" + "immunoglobulin heavy chain deficiency" "" + "selective IgG immunodeficiency" "A broad classification of dysgammaglobulinemias characterized by low or undetectable serum levels of immunoglobulin class G (IgG). Deficiencies of IgG present variably according to subclass. IgG deficiencies are typically relative among subclasses and not absolute. Thus even with a given selective IgG subclass deficiency, total IgG levels may still fall within normal range. The clinical course and prognosis is dependent upon the severity of the deficiency and associated morbidity." "" + "congenital agammaglobulinemia" "An instance of agammaglobulinemia that is present from birth." "" + "calcific tendinitis" "" + "polyneuropathy due to drug" "" + "inflammatory and toxic neuropathy" "" + "bicipital tenosynovitis" "" + "tenosynovitis" "Inflammation of the synovial lining of a tendon sheath. Causes include trauma, tendon stress, bacterial disease (gonorrhea, tuberculosis), rheumatic disease, and gout. Common sites are the hand, wrist, shoulder capsule, hip capsule, hamstring muscles, and Achilles tendon. The tendon sheaths become inflamed and painful, and accumulate fluid. Joint mobility is usually reduced." "" + "posterior dislocation of lens" "" + "adult dermatomyositis" "Dermatomyositis in an adult." "" + "dermatomyositis" "Dermatomyositis (DM) is a type of idiopathic inflammatory myopathy characterized by evocative skin lesions and symmetrical proximal muscle weakness." "" + "obsolete hypophosphatasia" "" "true" + "renal tubular acidosis" "A group of genetic disorders of the kidney tubules characterized by the accumulation of metabolically produced acids with elevated plasma chloride, hyperchloremic metabolic acidosis. Defective renal acidification of urine (proximal tubules) or low renal acid excretion (distal tubules) can lead to complications such as hypokalemia, hypercalcinuria with nephrolithiasis and nephrocalcinosis, and rickets." "" + "ochronosis disorder" "A disorder characterized by bluish-black discoloration of the cartilaginous tissues due to accumulation of homogentisic acid. It is associated with alkaptonuria. Signs and symptoms include dark urine, skin pigmentation, and arthritis." "" + "tracheal calcification" "Abnormal deposits of calcium in the tracheal tissue." "" + "tracheal disorder" "A non-neoplastic or neoplastic disorder that affects the trachea. Representative examples of non-neoplastic disorders include congenital malformations and infection. Representative examples of neoplastic disorders include carcinoma and lymphoma." "" + "acute frontal sinusitis" "Acute form of frontal sinusitis." "" + "oligospermia" "Decreased number of spermatozoa in the semen." "" + "scleromalacia perforans" "A rare form of necrotizing anterior scleritis without pain in which the sclera is notably white, avascular and thin. Both choroidal exposure and staphyloma formation may occur." "" + "necrotizing scleritis" "A severe form of scleritis with subtypes: necrotising zonal granulomatous inflammation, diffuse non-granulomatous chronic inflammation, mixed pattern of acute purulent inflammation mixed with granulomatous inflammation and sarcoidal pattern." "" + "orbital cyst" "" + "gastrointestinal tularemia" "A tularemia that results in formation of ulcerative lesions located in gastrointestinal tract. The infection has symptom fever, has symptom chills, has symptom malaise, has symptom muscle aches, and has symptom vomiting." "" + "chronic perichondritis of pinna" "Chronic form of perichondritis of auricle." "" + "perichondritis of auricle" "An otitis externa involving infection of the tissue surrounding the cartilage of the earlobe (pinna), ear canal, or both. It may be caused by injury, burns, insect bites, ear piercing, or a boil on the ear. The common bacterial causative agent is Pseudomonas aeruginosa. Symptoms include redness, pain, fever, swelling of the earlobe and pus accumulation between the cartilage and the layer of connective tissue around it." "" + "epiphora due to excess lacrimation" "" + "cystoid macular retinal degeneration" "" + "chronic purulent otitis media" "Otitis media that persists for at least six weeks, and that is associated with otorrhea through a perforated tympanic membrane." "" + "chronic atticoantral disease" "A chronic purulent otitis media which involves perforation in the attic region (pars flaccida of the tympanic membrane) or at the posterosuperior margin, with in-growth of squamous epithelium into the middle ear. This is caused as a result of poor ventilation of the middle ear and episodes of infection." "" + "pyoureter" "An abscess that is located in the ureter." "" + "ureteral disorder" "A non-neoplastic or neoplastic disorder affecting the ureter." "" + "urinary tract infection" "" + "vitreoretinal dystrophy" "" + "dystrophies primarily involving the retinal pigment epithelium" "" + "retinal dystrophy in systemic or cerebroretinal lipidoses" "" + "pulmonary valve insufficiency" "Dysfunction of the pulmonary valve characterized by incomplete valve closure." "" + "pulmonary valve disorder" "A disease involving the pulmonary valve." "" + "suppurative cholangitis" "Cholangitis that is characterized by pyogenic organisms." "" + "cholangitis" "An acute or chronic inflammatory process affecting the biliary tract." "" + "ascending cholangitis" "Acute infection of the bile ducts caused by bacteria ascending from the small intestine." "" + "acute cholangitis" "Cholangitis that is both sudden in onset and of a relatively short duration." "" + "pericholangitis" "Inflammation of the tissue surrounding the biliary ducts." "" + "obsolete atrophic vulva" "" "true" + "obsolete primary hypertrophic osteoarthropathy" "" "true" + "neurogenic arthropathy" "Chronic progressive degeneration of the stress-bearing portion of a joint, with bizarre hypertrophic changes at the periphery. It is probably a complication of a variety of neurologic disorders, particularly tabes dorsalis, involving loss of sensation, which leads to relaxation of supporting structures and chronic instability of the joint. (Dorland, 27th ed)" "" + "nervous system disorder" "A non-neoplastic or neoplastic disorder that affects the brain, spinal cord, or peripheral nerves." "" + "brawny scleritis" "" + "obsolete LEOPARD syndrome" "" "true" + "vulvar dystrophy" "A non-neoplastic lesion that affects the vulva and is characterized by thinning or thickening of the skin and dryness." "" + "skin epithelioid hemangioma" "A hemangioma arising from the skin. It is characterized by the presence of epithelioid endothelial cells." "" + "epithelioid hemangioma" "A hemangioma characterized by the presence of epithelioid endothelial cells." "" + "skin hemangioma" "A hemangioma arising from the skin." "" + "pleuropneumonia" "Inflammation of the lung parenchyma that is associated with pleurisy, inflammation of the pleura." "" + "generalized anxiety disorder" "An anxiety disorder characterized by excessive and difficult-to-control worry about a number of life situations. The worry is accompanied by restlessness, fatigue, inability to concentrate, irritability, muscle tension, and/or sleep disturbance and lasts for at least 6 months." "" + "Plasmodium malariae malaria" "Malaria resulting from infection by Plasmodium malariae." "" + "mixed malaria" "A malaria that involves infection with more than one species of Plasmodium at the same time." "" + "postencephalitic Parkinson disease" "A disease believed to be caused by a viral illness that triggers degeneration of the nerve cells in the substantia nigra. Overall, this degeneration leads to clinical parkinsonism." "" + "secondary Parkinson disease" "A condition with a clinical picture similar to that of Parkinson disease, but which is caused by external factors, including medication." "" + "parkinsonian syndrome due to neurodegenerative disease" "True" + "hyperestrogenism" "Abnormally high level of estrogen." "" + "suppurative thyroiditis" "Acute inflammatory disease of the thyroid gland due to infections by bacteria; fungi; or other microorganisms. Symptoms include tender swelling, fever, and often with leukocytosis." "" + "thyroiditis" "Inflammation of the thyroid gland. This category includes Hashimoto thyroiditis, Riedel thyroiditis, acute thyroiditis, subacute thyroiditis, and radiation-induced thyroiditis." "" + "obsolete Riedel's fibrosing thyroiditis" "" "true" + "acute thyroiditis" "Acute form of thyroiditis (disease)." "" + "corneal ectasia" "" + "Norwegian scabies" "A rare, severe form of scabies that is associated with immunosuppression. It is characterized by an immense number of mites and hyperkeratotic crusted lesions, and is usually accompanied by lymphadenopathy and eosinophilia." "" + "scabies" "A contagious skin infection that is caused by the burrowing parasitic mite, Sarcoptes scabiei, and is characterized by intense itching and small, raised red spots in the area of the mite burrows." "" + "neoplasm of parietal lobe" "A neoplasm (disease) that involves the parietal lobe." "" + "pyuria" "The presence of excessive white blood cells in the urine as determined by urinalysis." "" + "thrombophlebitis migrans" "A thrombophlebitis that is characterized by repeated occurances of thrombophlebitis in different locations." "" + "protozoal dysentery" "A dysentery that involves protozoan infection." "" + "capillary leak syndrome" "A syndrome characterized by leakage of intravascular fluids into the extravascular space. This syndrome is observed in patients who demonstrate a state of generalized leaky capillaries following shock syndromes, low-flow states, ischemia-reperfusion injuries, toxemias, medications, or poisoning. It can lead to generalized edema and multiple organ failure." "" + "critical illness polyneuropathy" "" + "obsolete autosomal dominant cerebellar ataxia" "" "true" + "labyrinthine bilateral reactive loss" "" + "obsolete Alpers syndrome" "" "true" + "obsolete glossopharyngeal neuralgia" "" "true" + "abnormality of glucagon secretion" "" + "obsolete cerebral degeneration disease" "" "true" + "chronic tubotympanic suppurative otitis media" "A suppurative otitis media which is an inflammatory disease of the middle ear cleft characterized by the presence of a persisting perforation within the pars tensa of the tympanic membrane, intermittent profuse muco-purulent otorrhea and gradually progressive conductive hearing loss of more than 12 weeks duration. It is caused by episodes of upper respiratory infections." "" + "sclerosing keratitis" "" + "chronic closed-angle glaucoma" "Chronic form of angle-closure glaucoma." "" + "gonadal dysgenesis" "A congenital disorder characterized by the presence of extremely hypoplastic gonads preventing the development of secondary sex characteristics." "" + "hypogonadism" "A disorder characterized by decreased function of the gonads. Clinical manifestations in both males and females include poor libido, infertility, and osteoporosis. Additional signs in males include erectile dysfunction, muscle atrophy, gynecomastia and increased abdominal fat. In females, additional signs include shrinking of the breasts and loss of, or failure to develop menstruation." "" + "obsolete 46 XY gonadal dysgenesis" "" "true" + "mixed gonadal dysgenesis" "A type of defective gonadal development in patients with a wide spectrum of chromosomal mosaic variants. Their karyotypes are of partial sex chromosome monosomy resulting from an absence or an abnormal second sex chromosome (X or Y). Karyotypes include 45,X/46,xx; 45,X/46,xx/47,xxx; 46,xxp-; 45,X/46,xy; 45,X/47,xyy; 46,xypi; etc. The spectrum of phenotypes may range from phenotypic female to phenotypic male including variations in gonads and internal and external genitalia, depending on the ratio in each gonad of 45,X primordial germ cells to those with normal 46,xx or 46,xy constitution." "" + "Turner syndrome" "Turner syndrome is a chromosomal disorder associated with the complete or partial absence of an X chromosome." "" + "obsolete hypokalemic periodic paralysis" "" "true" + "farmer's lung disease" "Hypersensitivity pneumonitis caused by the repeated exposure and inhalation of biological dust (such as hay dust, mold spores, or other agricultural products). It is considered a type II hypersensitivity inflammatory reaction. In the acute phase, signs and symptoms include fever, chills, cough, dyspnea, headache, and chest tightness. The subacute phase manifests as chronic cough, dyspnea, anorexia, and weight loss. The chronic phase results from the prolonged exposure to the antigen and is characterized by severe dyspnea and irreversible damage to the lungs." "" + "occupational allergic alveolitis" "Occupational allergic alveolitis designates a hypersensitivity pneumonitis resulting from the inhalation of an antigen to which an individual has been previously sensitized in his/her occupational environment. Symptoms vary depending on the antigen and the form (acute, subacute, chronic) of the disease. They may be cough, dyspnea, chills, fever, weight loss, loss of appetite and general malaise" "" + "Brucella melitensis brucellosis" "A brucellosis that involves an infection caused by Brucella melitensis [NCBITaxon:29459] in cattle, goats, sheep and humans. The disease has symptom fever, has symptom malaise, has symptom anorexia, has symptom limb pain and has symptom back pain." "" + "Brucella abortus brucellosis" "A bacterial infection caused by Brucella abortus that spreads from cattle to humans. Brucella abortus can cause of range of signs and symptoms including fever, chills, sweats, weight loss, malaise, headaches, myalgia, and arthralgia." "" + "hemangioma of orbit" "A hemangioma arising from the orbit." "" + "cavernous hemangioma of orbit" "A cavernous hemangioma arising from the orbit." "" + "cavernous hemangioma" "A hemangioma characterized by the presence of cavernous vascular spaces." "" + "chorea gravidarum" "A rare movement disorder developed during pregnancy, characterized by involuntary jerky motion (chorea) and inability to maintain stable position of body parts (athetosis). rheumatic fever and collagen vascular disorders are frequently associated with this disease. Chorea may vary from mild to severe and occurs in approximately 1 per 2,000 to 3,000 pregnancies. (From Md Med J 1997 Sep;46(8):436-9)" "" + "ureteral lymphoma" "A lymphoma that involves the ureter." "" + "regional ureteric cancer" "Carcinoma of the ureter without spread to any other region." "" + "ureter carcinoma" "A carcinoma that arises from epithelial cells of the ureter." "" + "dumping syndrome" "A disorder of the gastrointestinal tract. It is typically caused by the rapid emptying of undigested food from the stomach to the small intestine following gastroesophageal surgery but may be seen secondary to diabetes or the use of certain medications. Clinical signs may be seen 30-60 minutes after eating (early dumping): cramping, nausea, vomiting and diarrhea or they may be seen 1-3 hours later as a result of hyperinsulinemic hypoglycemia (late dumping): sweating, dizziness, confusion and heart palpitations. Untreated, the clinical course progresses to malnutrition and weight loss." "" + "postgastrectomy syndrome" "Sequelae of gastrectomy from the second week after operation on. Include recurrent or anastomotic ulcer, postprandial syndromes (dumping syndrome and late postprandial hypoglycemia), disordered bowel action, and nutritional deficiencies." "" + "obsolete Wolman disease" "" "true" + "obsolete cholesterol ester storage disease" "" "true" + "Niemann-Pick disease" "A group of inherited, severe metabolic disorders in which sphingomyelin accumulates in lysosomes in cells. The lysosomes normally transport material through and out of the cell." "" + "non-Langerhans cell histiocytosis" "Group of disorders which feature accumulations of active HISTIOCYTES and LYMPHOCYTES, but where the histiocytes are not LANGERHANS CELLS. The group includes HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS; SINUS HISTIOCYTOSIS; xanthogranuloma; reticulohistiocytoma; juvenile XANTHOGRANULOMA; xanthoma disseminatum; as well as the lipid storage diseases (SEA-BLUE HISTIOCYTE SYNDROME; and NIEMANN-PICK DISEASES)." "" + "sphingolipidosis" "An inherited metabolic disorder that affects the lysosomal degradation of the spinhgolipids. Representative examples include Gaucher disease, Tay-Sachs disease, and Niemann-Pick disease." "" + "peripheral degeneration of cornea" "" + "candidal paronychia" "A candidiasis that results in fungal infection of the outer-most layer located in nail, has material basis in Candida species. The infection causes painful, red, swollen area around the nail, often at the cuticle or at the site of a hangnail or other injury." "" + "partial arterial retinal occlusion" "A partial occlusion of the retinal artery." "" + "Argyll Robertson pupil" "" + "senile degeneration of brain" "" + "external pathological resorption" "" + "atrophic glossitis" "" + "malignant cardiac peripheral nerve sheath neoplasm" "A very rare malignant peripheral nerve sheath tumor that arises from the heart." "" + "heart sarcoma" "A malignant soft tissue neoplasm that arises from the heart. The majority of cases are angiosarcomas." "" + "malignant peripheral nerve sheath tumor" "Malignant peripheral nerve sheath tumor (MPNST) is a rare and often aggressive soft tissue sarcoma occurring in a wide range of anatomical sites." "" + "malignant cardiac germ cell tumor" "A rare malignant germ cell tumor that arises from the pericardium." "" + "malignant germ cell tumor" "A gonadal or extragonadal malignant neoplasm that arises from germ cells. Representative examples include embryonal carcinoma, yolk sac tumor, and seminoma." "" + "cardiac germ cell tumor" "A germ cell tumor that arises within the myocardium or cardiac chambers. The reported cases have been teratomas and yolk sac tumors." "" + "rete testis adenocarcinoma" "A carcinoma that arises from glandular epithelial cells of the rete testis" "" + "rete testis neoplasm" "A benign or malignant neoplasm that affects the rete testis. Representative examples include adenoma and adenocarcinoma." "" + "seminal vesicle adenocarcinoma" "A carcinoma that arises from glandular epithelial cells of the seminal vesicle" "" + "seminal vesicle tumor" "A benign or malignant neoplasm that affects the seminal vesicle. Representative examples include cystadenoma and adenocarcinoma." "" + "sphenoidal sinus cancer" "A malignant neoplasm involving the sphenoidal sinus." "" + "sphenoidal sinus neoplasm" "A benign or malignant neoplasm that affects the sphenoid sinus. Representative examples of benign neoplasms include Schneiderian papilloma and salivary gland-type adenoma. Representative examples of malignant neoplasms include carcinoma and lymphoma." "" + "sphenoid sinus squamous cell carcinoma" "A squamous cell carcinoma that arises from the mucosal epithelial surface of the sphenoid sinus. Patients may present with nasal fullness, obstruction, and/or epistaxis." "" + "paranasal sinus squamous cell carcinoma" "A squamous cell carcinoma that arises from the mucosal epithelial surface of the ethmoid, frontal, maxillary, or sphenoid sinus. Patients may present with nasal fullness, obstruction, and/or epistaxis." "" + "steroid-induced glaucoma - borderline" "" + "root resorption" "Resorption in which cementum or dentin is lost from the root of a tooth owing to cementoclastic or osteoclastic activity in conditions such as trauma of occlusion or neoplasms. (Dorland, 27th ed)" "" + "Foster-Kennedy syndrome" "Conditions which produce injury or dysfunction of the second cranial or optic nerve, which is generally considered a component of the central nervous system. Damage to optic nerve fibers may occur at or near their origin in the retina, at the optic disk, or in the nerve, optic chiasm, optic tract, or lateral geniculate nuclei. Clinical manifestations may include decreased visual acuity and contrast sensitivity, impaired color vision, and an afferent pupillary defect." "" + "papilledema" "Swelling around the optic disc, usually due to increased intracranial pressure or pressure on the optic nerve by a tumor." "" + "primary pulmonary hypertension" "Increased blood pressure in the arteries of the lungs; the etiology is unknown." "" + "anaerobic meningitis" "" + "anaerobic bacteria infectious disease" "" + "obsolete disease of cellular proliferation" "" "true" + "postsurgical hypothyroidism" "" + "atheroembolism of kidney" "A cholesterol embolism that involves the kidney." "" + "obsolete acrodysostosis" "" "true" + "serous labyrinthitis" "A labyrinthitits in which bacterial toxins invade the inner ear. It is the most common complication of acute or chronic middle ear infections." "" + "obsolete VACTERL association" "" "true" + "infectious otitis interna" "Inflammation of the anatomical structures of the inner ear secondary to an infectious process. Symptoms include severe vertigo, nausea, vomiting, anxiety, and pain. Viral etiology is most common, and recent history of an upper respiratory infection is common. In rare cases an infection of the middle ear can spread to the inner ear, resulting in a bacterial or fungal etiology." "" + "major depressive disorder" "An episode of depression lasting two or more weeks without an intervening episode of mania." "" + "FG syndrome" "FG syndrome (FGS) is a genetic condition that affects many parts of the body and occurs almost exclusively in males. 'FG' represents the surname initials of the firstindividuals diagnosed with the disorder.People withFG syndrome frequently have intellectual disability ranging from mild to severe, hypotonia, constipation and/or anal anomalies, a distinctive facial appearance, broad thumbs and great toes,alarge head compared to body size (relative macrocephaly), and abnormalities of the corpus callosum. Medical problems including heart defects, seizures, undescended testicle, and an inguinal hernia have also been reported in some affected individuals. Researchers have identified five regions of the X chromosome that are linked to FG syndrome in affected families. Mutations in the MED12 gene appears to be the most common cause of this disorder, leading to FG syndrome 1. Other genes involved with FG syndrome include FLNA (FGS2), CASK (FGS4), UPF3B (FGS6), and BRWD3 (FGS7).FGS is inherited in an X-linked recessive pattern.Individualized early intervention and educational services are important so that each child can reach their fullest potential." "" + "obsolete hereditary angioedema" "" "true" + "methylmalonic acidemia" "A rare autosomal recessive inherited disorder caused by mutations of the MUT, MMAA, MMAB, MMADHC, and MCEE genes. It is characterized by abnormalities in the metabolism of lipids and proteins. Signs and symptoms usually appear early in life and vary from mild to life threatening. They include vomiting, dehydration, hypotonia, developmental delays, hepatomegaly, lethargy, intellectual disabilities, and chronic kidney disease." "" + "simple vascular malformation" "" + "lymphatic vessel neoplasm" "A benign or malignant neoplasm arising from the lymphatic vessels." "" + "benign epithelial neoplasm" "A neoplasm arising from the epithelial cells. It is characterized by the absence of morphologic features associated with malignancy (severe cytologic atypia, tumor cell necrosis, and high mitotic rate). Benign epithelial neoplasms remain confined to the original site of growth and only rarely metastasize to other anatomic sites." "" + "autosomal recessive Ehlers-Danlos syndrome, vascular type" "The rare autosomal recessive form of the vascular type of Ehlers-Danlos syndrome. vEDS is almost always inherited in an autosomal dominant manner but rare examples of biallelic inheritance have been reported." "" + "Ehlers-Danlos syndrome, vascular type" "Ehlers-Danlos syndrome type IV, also known as the vascular type of Ehlers-Danlos syndrome (EDS), is an inherited connective tissue disorder defined by characteristic facial features (acrogeria) in most patients, translucent skin with highly visible subcutaneous vessels on the trunk and lower back, easy bruising, and severe arterial, digestive and uterine complications, which are rarely, if at all, observed in the other forms of EDS." "" + "obsolete brittle cornea syndrome" "" "true" + "benign familial neonatal epilepsy" "A condition marked by recurrent seizures that occur during the first 4-6 weeks of life despite an otherwise benign neonatal course. Autosomal dominant familial and sporadic forms have been identified. Seizures generally consist of brief episodes of tonic posturing and other movements, apnea, eye deviations, and blood pressure fluctuations. These tend to remit after the 6th week of life. The risk of developing epilepsy at an older age is moderately increased in the familial form of this disorder. (Neurologia 1996 Feb;11(2):51-5)" "" + "olivopontocerebellar atrophy" "A group of sporadic and inherited neurodegenerative disorders affecting the cerebellum, pons, and inferior olives." "" + "obsolete Leber congenital amaurosis" "" "true" + "obsolete hypohidrotic ectodermal dysplasia" "" "true" + "obsolete Blount disease" "" "true" + "periodontal disorder" "An inflammatory process of the gingival tissues and/or periodontal membrane of the teeth, resulting in an abnormally deep gingival sulcus, possibly producing periodontal pockets and loss of alveolar bone support." "" + "mouth mucosa disorder" "A disease or disorder that involves the mouth mucosa." "" + "obsolete sensory system disease" "A disease involving the sensory system." "" "true" + "obsolete cystic echinococcosis" "" "true" + "obsolete cholera" "" "true" + "avoidant personality disorder" "A disorder characterized by an enduring pattern of avoidance of social situations and interpersonal contact due to overwhelming feelings of social inadequacy and a hypersensitivity to negative evaluation or rejection." "" + "chronic gonorrhea of cervix" "Chronic form of gonococcal cervicitis." "" + "chronic cervicitis" "Chronic inflammation of the cervix." "" + "cecal disorder" "Pathological developments in the cecum." "" + "colon carcinoma" "A carcinoma that arises from epithelial cells of the colon" "" + "colorectal carcinoma" "A malignant epithelial neoplasm that arises from the colon or rectum and invades through the muscularis mucosa into the submucosa. The vast majority are adenocarcinomas." "" + "colon lymphoma" "An extranodal lymphoma that arises from the colon. The majority are B-cell non-Hodgkin lymphomas." "" + "colorectal lymphoma" "An extranodal lymphoma that arises from the colon or rectum. The majority are B-cell non-Hodgkin lymphomas." "" + "penile disorder" "A non-neoplastic or neoplastic disorder that affects the penis. Representative examples of non-neoplastic disorders include phimosis, balanitis, and hypospadias. Representative examples of neoplastic disorders include hemangioma, penile intraepithelial neoplasia, and penile carcinoma." "" + "head and neck carcinoma" "A carcinoma that arises from the head and neck region. Representative examples include oral cavity squamous cell carcinoma, laryngeal squamous cell carcinoma, and salivary gland carcinoma." "" + "mechanical ectropion" "An ectropion with a mechanical etiology." "" + "spastic ectropion" "" + "communicating hydrocephalus" "An abnormal accumulation of cerebrospinal fluid within the ventricles of the brain that occurs as a consequence of impaired cerebrospinal fluid reabsorption by the arachnoid granulations." "" + "alcohol abuse" "The use of alcoholic beverages to excess, either on individual occasions (\"binge drinking\") or as a regular practice." "" + "alcohol-related disorders" "Disorders related to or resulting from abuse or mis-use of alcohol." "" + "pulmonary systemic sclerosis" "" + "systemic sclerosis" "A chronic disorder, possibly autoimmune, marked by excessive production of collagen which results in hardening and thickening of body tissues. The two types of systemic scleroderma, limited cutaneous and diffuse cutaneous are classified with focus on the extent of affected skin. A relationship exists between the extent of skin area affected and degree of internal organ/system involvement. Systemic scleroderma can manifest itself in pulmonary fibrosis, Raynaud's syndrome, digestive system telangiectasias, renal hypertension and/or pulmonary hypertension." "" + "thrombocytopenia due to immune destruction" "A general class of thrombocytopenia due to immune destruction of platelets. It includes idiopathic thrombocytopenic purpura, as well as immune destruction-related thrombocytopenias due to other reasons (e.g., AIDS, transfusion, lupus erythematosus)." "" + "obsolete hypoglycemic coma" "" "true" + "obsolete breast cancer" "" "true" + "benign eccrine breast spiradenoma" "A very rare, benign sweat gland neoplasm that affects the breast. It is characterized by the proliferation of basaloid epithelial cells." "" + "benign spiradenoma" "A benign epithelial neoplasm with eccrine or apocrine differentiation, arising from the sweat glands. It usually presents as a solitary, well circumscribed, firm nodule in the face and upper trunk. It is characterized by the presence of basaloid cells forming nodules in the dermis. Cases of carcinoma arising from long standing spiradenomas have been reported." "" + "breast fibroadenoma" "A benign tumor of the breast characterized by the presence of stromal and epithelial elements. It presents as a painless, solitary, slow growing, firm, and mobile mass. It is the most common benign breast lesion. It usually occurs in women of childbearing age. The majority of fibroadenomas do not recur after complete excision. A slightly increased risk of developing cancer within fibroadenomas or in the breast tissue of patients previously treated for fibroadenomas has been reported." "" + "breast fibroepithelial neoplasm" "A benign or malignant biphasic neoplasm that arises from the breast parenchyma. It is characterized by the presence of an epithelial and a mesenchymal (stromal) component. The typical examples are fibroadenoma and phyllodes tumor." "" + "breast leiomyoma" "A well-circumscribed benign smooth muscle neoplasm arising from the breast. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern." "" + "breast adenoma" "A benign, well circumscribed neoplasm that arises from the breast. Representative examples include apocrine adenoma, tubular adenoma, and pleomorphic adenoma." "" + "obsolete breast duct papilloma" "" "true" + "intraductal papilloma" "An intraluminal papillary epithelial neoplasm arising within the ducts. Representative examples are the intraductal breast papilloma and the salivary gland intraductal papilloma." "" + "intraductal papillary breast neoplasm" "A benign or malignant papillary neoplasm that arises anywhere in the ductal system of the breast. It is characterized by fibrovascular structures lined by epithelial proliferations. This category includes intraductal papilloma and intraductal papillary carcinoma." "" + "intraductal breast neoplasm" "A benign or malignant epithelial neoplasm that arises anywhere in the ductal system of the breast. This category includes intraductal papilloma, intraductal papillary carcinoma, ductal hyperplasia with or without atypia, and ductal carcinoma in situ." "" + "breast myofibroblastoma" "A myofibroblastoma occurring in the breast of both women and men. It presents as a slowly growing mass." "" + "myofibroblastoma" "A benign, well circumscribed soft tissue neoplasm characterized by the presence of spindle shaped myofibroblasts and mast cells in a collagenous stroma." "" + "breast papillomatosis" "A benign breast neoplasm characterized by the proliferation of multiple papillomas." "" + "papillomatosis" "Glandular or squamous cell neoplastic proliferations characterized by the formation of multiple papillary structures diffusely involving a specific anatomic site." "" + "breast angiomatosis" "A benign diffuse vascular proliferation in the breast. It is characterized by the formation of capillary-sized and cavernous vascular spaces." "" + "benign breast adenomyoepithelioma" "A benign, nodular tumor that arises from the breast parenchyma. It is characterized by the proliferation of myoepithelial cells around spaces that are lined by epithelial cells. Occasionally, adenomyoepitheliomas may undergo malignant transformation." "" + "breast adenomyoepithelioma" "A usually benign tumor arising from the breast. It is characterized by the proliferation of cells with myoepithelial differentiation around spaces which are lined by epithelial cells. Rarely, the epithelial and/or myoepithelial cells may undergo malignant transformation. Cases with malignant transformation may follow an aggressive clinical course, including recurrences and local and distant metastases." "" + "breast myoepithelial tumor" "A benign or malignant tumor that arises from the breast and originates from or is composed of myoepithelial cells. Representative examples include adenomyoepithelioma, myoepitheliosis, and malignant myoepithelioma." "" + "female breast upper-inner quadrant cancer" "" + "female breast lower-inner quadrant cancer" "" + "female breast axillary tail cancer" "A cancer that involves the UBERON:0035289." "" + "ventricular septal defect" "The presence of a defect (opening) in the septum that separates the two ventricles of the heart. It can be congenital or acquired." "" + "heart septal defect" "A congenital disorder characterized by the presence of an abnormal communication between the atria or the ventricles of the heart due to defects in the cardiac septum." "" + "supratentorial cancer" "Primary and metastatic (secondary) tumors of the brain located above the tentorium cerebelli, a fold of dura mater separating the CEREBELLUM and brain STEM from the cerebral hemispheres and DIENCEPHALON (i.e., THALAMUS and HYPOTHALAMUS and related structures). In adults, primary neoplasms tend to arise in the supratentorial compartment, whereas in children they occur more frequently in the infratentorial space. Clinical manifestations vary with the location of the lesion, but SEIZURES; APHASIA; HEMIANOPSIA; hemiparesis; and sensory deficits are relatively common features. Metastatic supratentorial neoplasms are frequently multiple at the time of presentation." "" + "melanotic neuroectodermal tumor" "A rare neoplasm usually occurring in infants. It is characterized by the presence of a mixture of melanin-containing epithelial cells and smaller neuroblast-like cells. It may involve the skull and facial bones, or the epididymis. It usually has a benign clinical course." "" + "malignant pineal area germ cell neoplasm" "A malignant germ cell tumor that arises in the pineal region. Representative examples include germinoma, immature teratoma, choriocarcinoma, embryonal carcinoma and yolk sac tumor." "" + "central nervous system germ cell tumor" "A unique group of rare tumors of the central nervous system that affect mainly children and adolescents. Their morphologic and biologic profile corresponds to that of homologous germ cell tumors that arise in the gonads and in other extragonadal sites. Representative examples include: germinoma, embryonal carcinoma, yolk sac tumor, choriocarcinoma, and teratoma." "" + "pineal gland cancer" "Abnormal malignant growth of the cells that comprise the pineal parenchyma." "" + "Behcet syndrome arthropathy" "Arthropathy resulting from Behcet's syndrome." "" + "spontaneous tension pneumothorax" "" + "pneumothorax" "Abnormal presence of air in the pleural cavity." "" + "low implantation of placenta" "" + "placenta praevia" "Abnormal placentation in which the placenta implants in the lower segment of the uterus (the zone of dilation) and may cover part or all of the opening of the cervix. It is often associated with serious antepartum bleeding and premature labor." "" + "obsolete neuroendocrine tumor" "" "true" + "obsolete congenital ichthyosiform erythroderma" "" "true" + "Richter syndrome" "Transformation of chronic lymphocytic leukemia into aggressive non-Hodgkin's lymphoma, usually diffuse large B-cell lymphoma (immunoblastic or centroblastic variant). Occasional cases of transformation to Hodgkin's lymphoma have also been described, particularly in patients treated with purine nucleotide analogues. Molecular genetic studies suggest that in approximately half of the cases, the lymphoma is clonally related to the underlying chronic lymphocytic leukemia, whereas in the remaining cases the lymphoma probably represents a secondary, unrelated neoplasm." "" + "secondary neoplasm" "A neoplasm that arises from a pre-existing lower grade lesion, or as a result of a primary lesion that has spread to secondary sites, or due to a complication of a cancer treatment." "" + "B-cell chronic lymphocytic leukemia" "B-cell chronic lymphocytic leukemia (B-CLL) is a type of B-cell non-Hodgkin lymphoma, and the most common form of leukemia in Western countries, affecting elderly adults (mean age of 67 and 72 years) with a slight male predominance (1.7:1), and characterized by a highly variable clinical presentation that can include asymptomatic disease or non-specific B-symptoms such as unintentional weight loss, severe fatigue, fever (without evidence of infection), and night sweats as well as cervical lymphadenopathy, splenomegaly and frequent infections. Some patients can also develop autoimmune complications such as autoimmune hemolytic anemia or immune thrombocytopenia. The clinical course is extremely heterogeneous with survival ranging from a few months to several decades." "" + "obsolete neuroectodermal tumor" "" "true" + "benign shuddering attacks" "" + "clear cell acanthoma" "An acanthoma characterized by the presence of psoriasiform epidermal acanthosis and basal cells with pale cytoplasm." "" + "acanthoma" "A benign skin neoplasm composed of epithelial cells." "" + "partial retinal vein occlusion" "" + "retinal vein occlusion" "An occlusion of the retinal vein." "" + "retinal vascular occlusion" "An occlusion of the retinal vasculature." "" + "eccrine sweat gland neoplasm" "A neoplasm involving a eccrine sweat gland." "" + "sweat gland neoplasm" "A benign or malignant neoplasm arising from the sweat glands." "" + "obsolete cryptosporidiosis" "" "true" + "small intestine leiomyoma" "A benign smooth muscle neoplasm arising from the small intestine. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern." "" + "benign neoplasm of small intestine" "A benign neoplasm that involves the small intestine." "" + "obsolete conjunctival squamous cell carcinoma" "" "true" + "vascular cancer" "A malignant neoplasm arising from the blood vessels." "" + "blood vessel neoplasm" "A neoplasm arising from arteries or veins." "" + "malignant conjunctival melanoma" "A malignant melanoma within the conjunctiva of the eye." "" + "conjunctival cancer" "A malignant neoplasm involving the conjunctiva." "" + "obsolete ocular melanoma" "" "true" + "facial nerve neoplasm" "A neoplasm involving a facial nerve." "" + "lip disorder" "A disease involving the lip." "" + "conversion disorder" "Conversion disorder is a disorder in which a person experiences blindness, paralysis, or other symptoms affecting the nervous system that cannot be explained solely by a physical illness or injury. Symptoms usually begin suddenly after a period of emotional or physical distress or psychological conflict. Conversion disorder is thought to be caused by the bodys reaction to a stressful physical or emotional event. Some research has identified potential neurological changes that may be related to symptoms of the disorder. Diagnosis of conversion disorder is based on identifying particular signs that are common among people with the disorder, as well as performing tests to rule out other causes of the symptoms. Treatment may include psychotherapy, hypnosis, and stress management training to help reduce symptoms. Treatment of any underlying psychological disorder is also recommended. The affected body part may require physical or occupational therapy until symptoms resolve." "" + "toxic megacolon" "An acute form of megacolon, severe pathological dilatation of the colon. It is associated with clinical conditions such as ulcerative colitis; crohn disease; amebic dysentery; or clostridium enterocolitis." "" + "labyrinthine unilateral reactive loss" "" + "unilateral hyperactive labyrinth" "" + "thyroid cancer" "A malignant neoplasm involving the thyroid gland" "" + "thyroid tumor" "A benign or malignant neoplasm affecting the thyroid gland." "" + "malignant endocrine neoplasm" "A malignant neoplasm affecting the endocrine glands. Representative examples include thyroid gland carcinoma, parathyroid gland carcinoma, pituitary gland carcinoma, and adrenal cortex carcinoma." "" + "pituitary cancer" "A primary or metastatic malignant neoplasm affecting the pituitary gland. Representative examples include functioning or non-functioning carcinomas arising from the anterior lobe of the pituitary gland, chordomas, chondrosarcomas, and metastatic carcinomas from the breast, lung, and gastrointestinal tract." "" + "skull cancer" "A malignant neoplasm involving the skull." "" + "thalamic cancer" "A cancer involving a dorsal plus ventral thalamus." "" + "pituitary tumor" "A benign or malignant neoplasm affecting the pituitary gland. The vast majority are adenomas arising from the anterior lobe of the pituitary gland." "" + "adrenal rest tumor" "A benign, testicular or ovarian tumor, derived from adrenal embryonic rest cells. It is composed of hyperplastic adrenal cortical tissue, and it is associated with congenital adrenal hyperplasia." "" + "obsolete peritoneal mesothelioma" "" "true" + "benign peritoneal mesothelioma" "A rare, benign neoplasm that arises from the peritoneum and is characterized by the presence of gland like structures. Cytologic atypia is absent." "" + "peritoneal mesothelioma" "A benign or malignant mesothelial neoplasm that arises from the peritoneum." "" + "peritoneal carcinoma" "A rare carcinoma that arises from the peritoneum and resembles the malignant surface epithelial-stromal tumors that arise from the ovary. Serous adenocarcinoma is the most common histologic variant. It affects women almost exclusively. The diagnosis of primary peritoneal carcinoma can be made only if both ovaries are not involved by tumor, or, if the ovaries are involved, the tumor is confined to the ovarian surface without invasion of the ovarian stroma and the peritoneal involvement is greater than the ovarian surface involvement." "" + "pancreas lymphoma" "A lymphoma that arises from the pancreas with the bulk of the tumor localized to this organ. The vast majority of cases are non-Hodgkin lymphomas of B-cell phenotype and include mucosa-associated lymphoid tissue lymphomas, follicular lymphomas, and diffuse large B-cell lymphomas." "" + "malignant pancreatic neoplasm" "A malignant neoplasm involving the pancreas." "" + "obsolete pancreatic cancer" "" "true" + "malignant exocrine pancreas neoplasm" "A malignant neoplasm that arises from the epithelial cells of the exocrine pancreatic tissue." "" + "pancreatic exocrine neoplasm" "A benign or malignant neoplasm that arises from the epithelial cells of the exocrine pancreatic tissue." "" + "pancreas sarcoma" "A rare malignant soft tissue neoplasm that occurs primarily in the pancreas." "" + "ossifying fibroma" "A well circumscribed lesion of the bone, most frequently arising from the posterior mandible. It is characterized by the presence of fibrous tissue and a mineralized component which may be woven bone, lamellar bone, or cementum-like material. Complete removal is recommended, since it continues to enlarge if left untreated." "" + "mononeuritis simplex" "Neuritis of a single nerve." "" + "secondary lacrimal atrophy" "" + "status epilepticus" "A life-threatening situation in which the brain is in a continuous state of seizure." "" + "obsolete childhood absence epilepsy" "" "true" + "mononeuritis multiplex" "A painful asymmetric asynchronous sensory and motor peripheral neuropathy involving isolated damage to at least 2 separate nerve areas; associated with (but not limited to) systemic disorders such as diabetes, vasculitis, amyloidosis, direct tumor involvement, polyarteritis nodosa, rheumatoid arthritis, systemic lupus erythematosus, and paraneoplastic syndromes. It also may be associated with Lyme disease, Wegener's granulomatosis, Sjogren syndrome, cryoglobulinemia, hypereosinophilia, temporal arteritis, scleroderma, sarcoidosis, leprosy, acute viral hepatitis A, and acquired immunodeficiency syndrome." "" + "upper limb mononeuronitis" "A disease affecting a single peripheral nerve of the upper limb." "" + "neoplasm of jaw" "A neoplasm (disease) that involves the jaw skeleton." "" + "skull neoplasm" "A benign or malignant neoplasm that affects the bones and structures of the skull." "" + "chronic rheumatic pericarditis" "Chronic form of rheumatic pericarditis." "" + "rheumatic pericarditis" "" + "disorder of visual system" "A disease that involves the visual system." "" + "eczematous dermatitis of eyelid" "" + "noninfectious dermatoses of eyelid" "" + "allergic contact dermatitis of eyelid" "A allergic contact dermatitis that involves the eyelid." "" + "allergic contact dermatitis" "An inflammatory skin condition caused by an immune response to direct contact between the skin and an allergen. It consists of a delayed type of allergic reaction at the affected site with resulting red, swollen, and blistered skin that may itch or leak." "" + "eye allergy" "An allergic disease involving a pathogenic inflammatory response in the camera-type eye." "" + "sigmoid disease" "Pathological processes in the sigmoid colon region of the large intestine (intestine, large)." "" + "vagina sarcoma" "A malignant mesenchymal neoplasm that arises from the vagina. Representative examples include botryoid-type embryonal rhabdomyosarcoma, leiomyosarcoma, and endometrioid stromal sarcoma." "" + "cutaneous undifferentiated pleomorphic sarcoma" "An undifferentiated pleomorphic sarcoma arising from the skin. It is characterized by the presence of spindle cells in a storiform pattern and histiocytes with abundant cytoplasm." "" + "undifferentiated pleomorphic sarcoma" "An undifferentiated soft tissue sarcoma characterized by the presence of a pleomorphic malignant cellular infiltrate. It is also known as malignant fibrous histiocytoma." "" + "skin sarcoma" "A sarcoma that arises from the skin. Representative examples include Kaposi sarcoma, angiosarcoma, lymphangiosarcoma, liposarcoma, and leiomyosarcoma." "" + "histiocytoma" "A mesenchymal tumor composed of fibroblastic and histiocytic cells." "" + "bone sarcoma" "A sarcoma that arises from the bone. Representative examples are osteosarcoma and chondrosarcoma." "" + "vaginal yolk sac tumor" "A rare yolk sac tumor that arises from the vagina. Patients present with abnormal vaginal bleeding or bloody discharge." "" + "yolk sac tumor" "A non-seminomatous malignant germ cell tumor composed of primitive germ cells. It is the most common malignant germ cell tumor in the pediatric population. It occurs in the infant testis, ovary, sacrococcygeal region, vagina, uterus, prostate, abdomen, liver, retroperitoneum, thorax, and pineal/third ventricle. The tumor mimics the yolk sac of the embryo and produces alpha-fetoprotein (AFP). Treatment includes: surgical resection, radiation, and chemotherapy. This tumor is very responsive to chemotherapy regimens that include cisplatinum." "" + "vaginal germ cell malignant tumor" "A malignant germ cell tumor that involves the vagina." "" + "obsolete hyperuricemia" "" "true" + "developmental defect during embryogenesis" "A disease that has its basis in the disruption of embryonic morphogenesis." "" + "obsolete Coffin-Siris syndrome" "" "true" + "obsolete sphingolipidosis" "" "true" + "hypothalamic disorder" "Neoplastic, inflammatory, infectious, and other diseases of the hypothalamus. Clinical manifestations include appetite disorders; autonomic nervous system diseases; sleep disorders; behavioral symptoms related to dysfunction of the limbic system; and neuroendocrine disorders." "" + "thalamic disorder" "A disorder of the thalamus. Causes include brain neoplasms, cerebrovascular disorders, brain trauma, brain hypoxia, infections, and brain hemorrhage. Signs and symptoms include movement and sensory abnormalities, visual abnormalities, ataxia, and coma." "" + "obsolete dysostosis" "" "true" + "intermittent squint" "" + "telogen effluvium" "A scalp hair loss condition characterized by excessive shedding of hair in the resting phase of growth, usually following a fever or major body stress." "" + "alopecia" "Hair loss usually from the scalp. It may result in bald spots or spread to the entire scalp or the entire epidermis. It may be androgenetic or caused by chemotherapeutic agents, compulsive hair pulling, autoimmune disorders or congenital conditions." "" + "trichomoniasis" "An infection that is caused by Trichomonas." "" + "cholecystitis" "An acute or chronic inflammation involving the gallbladder wall. It may be associated with the presence of gallstones." "" + "genetic biliary tract disease" "Genetic biliary tract disease." "" + "obsolete fallopian tube carcinoma" "" "true" + "fallopian tube cancer" "A primary or metastatic malignant neoplasm that affects the fallopian tube. Representative examples include carcinoma, carcinosarcoma, and leiomyosarcoma." "" + "fallopian tube leiomyosarcoma" "An aggressive malignant smooth muscle neoplasm, arising from the fallopian tube. It is characterized by a proliferation of neoplastic spindle cells." "" + "leiomyosarcoma" "An uncommon, aggressive malignant smooth muscle neoplasm, usually occurring in post-menopausal women. It is characterized by a proliferation of neoplastic spindle cells. Morphologic variants include epithelioid, granular cell, inflammatory and myxoid leimyosarcomas." "" + "obsolete cerebral palsy" "" "true" + "obsolete fallopian tube carcinosarcoma" "" "true" + "fallopian tube adenosarcoma" "An extremely rare malignant neoplasm that arises from the fallopian tube and is characterized by the presence of a benign epithelial component and a sarcomatous component." "" + "adenosarcoma" "A low grade malignant neoplasm characterized by the presence of a benign epithelial component (tubular and cleft-like glands) and a low grade sarcomatous component that contains varying amounts of fibrous and smooth muscle tissues. In a minority of cases, the sarcomatous component contains heterologous elements including striated muscle, cartilage, and fat. It occurs in the uterine corpus, ovary, fallopian tube, cervix, and vagina. It may recur and in a minority of cases may metastasize to distant anatomic sites." "" + "fallopian tube carcinosarcoma" "A carcinosarcoma that arises from the fallopian tube. It usually affects postmenopausal women and presents with abdominal pain, abdominal distension or genital bleeding. The prognosis is usually poor." "" + "thymus lipoma" "A well-circumscribed tumor of the thymus composed of islands of normal thymic parenchyma and mature adipose tissue. It is not clear if thymolipoma is a neoplastic or non-neoplastic lesion." "" + "benign neoplasm of thymus" "A benign neoplasm that involves the thymus." "" + "rectal neoplasm" "A benign or malignant neoplasm that affects the rectum. Representative examples of benign neoplasms include lipoma and leiomyoma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and sarcoma. Rectal adenomas always exhibit epithelial dysplasia and are considered premalignant neoplasms." "" + "colorectal neoplasm" "A benign or malignant neoplasm that affects the colon or rectum. Representative examples of benign neoplasms include lipoma and leiomyoma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and sarcoma. Colorectal adenomas always exhibit epithelial dysplasia and are considered premalignant neoplasms." "" + "rectum malignant melanoma" "An aggressive malignant melanocytic neoplasm that arises from the rectum." "" + "rectum neuroendocrine neoplasm" "A neoplasm with neuroendocrine differentiation that arises from the rectum. It includes well differentiated neuroendocrine tumors (low and intermediate grade) and poorly differentiated neuroendocrine carcinomas (high grade)." "" + "rectal carcinoma" "A malignant epithelial neoplasm that arises from the rectum and invades through the muscularis mucosa into the submucosa. The vast majority are adenocarcinomas." "" + "rectum sarcoma" "A malignant soft tissue neoplasm that arises from the rectum. Representative examples include angiosarcoma, Kaposi sarcoma, and leiomyosarcoma." "" + "rectum adenocarcinoma" "An adenocarcinoma arising from the rectum. It is more frequently seen in populations with a Western type diet and in patients with a history of chronic inflammatory bowel disease. Signs and symptoms include intestinal bleeding, anemia, and change in bowel habits. According to the degree of cellular differentiation, rectal adenocarcinomas are divided into well, moderately, and poorly differentiated. Histologic variants include mucinous adenocarcinoma, signet ring cell carcinoma, medullary carcinoma, serrated adenocarcinoma, cribriform comedo-type adenocarcinoma, and micropapillary adenocarcinoma." "" + "chronic eustachian salpingitis" "Chronic form of otosalpingitis." "" + "giant cell tumor" "A benign, intermediate, or malignant tumor that arises from the bone or soft tissue. It is characterized by the presence of multinucleated osteoclast-like giant cells." "" + "neuroma" "A tumor that grows from a nerve or is composed of nerve cells and nerve fibers." "" + "nerve sheath neoplasm" "A benign or malignant neoplasm arising from the perineural cells in the sheaths surrounding the nerves. Representative examples include neurofibroma, schwannoma, and malignant peripheral nerve sheath tumor." "" + "preretinal fibrosis" "A membrane on the vitreal surface of the retina resulting from the proliferation of one or more of three retinal elements: (1) fibrous astrocytes; (2) fibrocytes; and (3) retinal pigment epithelial cells. Localized epiretinal membranes may occur at the posterior pole of the eye without clinical signs or may cause marked loss of vision as a result of covering, distorting, or detaching the fovea centralis. Epiretinal membranes may cause vascular leakage and secondary retinal edema. In younger individuals some membranes appear to be developmental in origin and occur in otherwise normal eyes. The majority occur in association with retinal holes, ocular concussions, retinal inflammation, or after ocular surgery. (Newell, Ophthalmology: Principles and Concepts, 7th ed, p291)" "" + "obsolete connective tissue cancer" "A malignant neoplasm involving the connective tissue" "" "true" + "hyperinsulinism" "Abnormally high levels of insulin in the blood." "" + "placenta cancer" "A malignant neoplasm involving the placenta." "" + "placenta neoplasm" "A neoplasm (disease) that involves the placenta." "" + "obsolete placental choriocarcinoma" "" "true" + "obsolete gestational choriocarcinoma" "" "true" + "exostosis" "Non-neoplastic overgrowth of bone." "" + "hyperostosis" "Excessive thickening of bone." "" + "communication disorder" "A disorder characterized by an individual's inability to comprehend or share ideas or feelings because of an impairment in language, speech, or hearing." "" + "drug-induced hepatitis" "Liver disease lasting six months or more, caused by an adverse drug effect. The adverse effect may result from a direct toxic effect of a drug or metabolite, or an idiosyncratic response to a drug or metabolite." "" + "drug-induced liver injury" "A spectrum of clinical liver diseases ranging from mild biochemical abnormalities to acute liver failure, caused by drugs, drug metabolites, and chemicals from the environment." "" + "acute maxillary sinusitis" "Acute form of maxillary sinusitis." "" + "vulvar nodular hidradenoma" "A benign neoplasm that arises from sweat glands in the vulva and is characterized by the presence of lobules composed of epithelial cells with clear cytoplasm." "" + "nodular hidradenoma" "A benign epithelial neoplasm arising from the sweat glands. It presents as a nodular lesion usually in the scalp, trunk, and proximal extremities. It is characterized by a nodular growth pattern. Complete excision is curative." "" + "benign neoplasm of sweat gland" "A benign neoplasm that involves the sweat gland." "" + "hidradenoma" "A benign epithelial neoplasm arising from the sweat glands. Variants include the clear cell and nodular hidradenoma." "" + "vulvar syringoma" "A benign neoplasm that arises from eccrine ducts in the vulva and is characterized by the presence of tubules and cysts which are lined by epithelial cells in the densely fibrotic dermis." "" + "syringoma" "A benign sweat gland neoplasm usually affecting the lower eyelids and upper cheeks. The lesions are papular and are usually numerous. Morphologically, there are nests, cords, and tubules of epithelial cells present, surrounded by a dense stroma in the reticular dermis." "" + "vulvar angiokeratoma" "An uncommon benign lesion in the vulva. It manifests with multiple papular lesions which are purple in color. They are usually asymptomatic. Histologically, there is hyperkeratosis, papillomatosis, and dilated blood vessels in the papillary dermis." "" + "angiokeratoma" "A vascular lesion in the papillary dermis resulting from ectasia of pre-existing vessels. It is associated with secondary proliferative changes in the overlying epidermis (hyperkeratosis). It can present with widespread lesions (angiokeratoma corporis diffusum, often associated with inborn errors of metabolism) or as a localized lesion (angiokeratoma of Fordyce, angiokeratoma circumscriptum, and angiokeratoma of Mibelli)." "" + "angiokeratoma of Fordyce" "An angiokeratoma that is located on the scrotum or vulva." "" + "Bartholin gland benign neoplasm" "A benign neoplasm that affects the Bartholin gland. Representative examples include adenoma, adenomyoma, adenocarcinoma, and squamous cell carcinoma." "" + "Bartholin gland neoplasm" "A benign or malignant neoplasm that affects the Bartholin gland. Representative examples include adenoma, adenomyoma, adenocarcinoma, and squamous cell carcinoma." "" + "vestibular papilloma" "A benign papillary neoplasm that arises from the vulva and is characterized by the presence of a delicate fibrovascular stalk lined by squamous epithelium. There is no evidence of epithelial atypia." "" + "vulvar squamous neoplasm" "A benign, precancerous, or malignant neoplasm that arises from the squamous epithelium of the vulva. Representative examples include vestibular papilloma, intraepithelial neoplasia, and squamous cell carcinoma." "" + "perinatal intestinal perforation" "" + "intestinal perforation" "A rupture in the wall of the small or large intestine due to traumatic or pathologic processes." "" + "minor vestibular glands adenoma" "A rare, benign neoplasm that arises from the vulva It is characterized by the presence of clusters of small glands lined by mucinous epithelial cells. Bartholin duct structures are not present." "" + "vulvar glandular neoplasm" "A benign or malignant neoplasm that arises from the vulva and is composed of glandular epithelial cells. Representative examples include adenoma of the minor vestibular glands, Bartholin gland adenoma, and Bartholin gland adenocarcinoma." "" + "benign urethral neoplasm" "Abnormal growth of the cells of the urethra (lower urinary tract) without malignant characteristics." "" + "benign mixed tumor of the vulva" "A benign neoplasm that arises from the vulva and is characterized by the presence of epithelial cells forming nests and tubules in a fibrotic stroma. It may recur locally and complete excision is recommended." "" + "eccrine mixed tumor of skin" "A rare, benign, slow-growing and painless neoplasm of sweat glands. It usually arises in the head and neck. It is characterized by the presence of a mesenchymal chondroid stroma, fibrosis, and epithelial structures." "" + "mixed neoplasm" "A neoplasm composed of at least two distinct cellular populations." "" + "vulvar trichoepithelioma" "A benign neoplasm that arises from the vulva and is characterized by the presence of nests of monomorphic basaloid cells forming small cysts that contain keratin." "" + "trichoblastoma" "A benign hair follicle neoplasm with trichoblastic differentiation. It usually presents as a solitary papular lesion It most often presents on the head and neck area, but it may develop in any anatomic site containing hair follicles. Because of its benign nature, treatment usually is not required, provided that the diagnosis has been established with certainty." "" + "outlet dysfunction constipation" "" + "constipation disorder" "Irregular and infrequent or difficult evacuation of the bowels." "" + "bowel dysfunction" "Any disease in which the causes of the disease is a perturbation of the lower digestive tract leading to its dysfunction." "" + "transient arthritis" "Arthritis that is not permanent." "" + "vulvar melanoma" "A usually pigmented, nodular or polypoid malignant neoplasm that originates from melanocytes and arises from the vulva. It presents with bleeding and dysuria." "" + "sweat gland cancer" "A malignant neoplasm that affects the sweat glands." "" + "vulval Paget disease" "An uncommon intraepithelial malignant neoplasm of eccrine or apocrine origin, arising from the vulva. It usually affects post-menopausal women. In approximately 10-20% of the cases there is an associated anorectal, or urothelial carcinoma or a skin appendage adenocarcinoma identified. It presents as a red, eczematous lesion. Microscopically, it is characterized by the presence of the typical Paget cells which are large, round cells with abundant cytoplasm and prominent nuclei." "" + "Paget disease" "A malignant neoplasm composed of large cells with large nuclei, prominent nucleoli, and abundant pale cytoplasm (Paget cells). Paget cell neoplasms include Paget disease of the nipple and extramammary Paget disease which may affect the vulva, penis, anus, skin and scrotum." "" + "extramammary Paget disease" "A malignant neoplasm in which there is infiltration of the skin by neoplastic large cells with abundant pale cytoplasm and large nuclei with prominent nucleoli (Paget cells). It may affect the anus, penis, scrotum, and vulva." "" + "vulvar adenocarcinoma" "An adenocarcinoma that arises from the vulva. Representative examples include Bartholin gland adenocarcinoma, eccrine adenocarcinoma, apocrine adenocarcinoma, and sebaceous carcinoma." "" + "obsolete vulva adenocarcinoma" "" "true" + "heel spur" "A bony outgrowth on the lower surface of the calcaneus. Though often presenting along with plantar fasciitis (fasciitis, plantar), they are not considered causally related." "" + "obsolete vulva squamous cell carcinoma" "" "true" + "immunodeficiency disease" "Disease in which there is a deficiency or defect in the mechanisms of immunity, either cellular or humoral." "" + "pneumonic tularemia" "A tularemia that is located in lungs. The bacteria are transmitted by breathing dusts or aerosols containing the organisms. The infection has symptom cough, has symptom chest has symptom pain, and has symptom difficulty breathing." "" + "obsolete tularemia" "" "true" + "brain germinoma" "A germinoma (disease) that involves the brain." "" + "germinoma" "A malignant germ cell tumor arising in the central nervous system. It is characterized by the presence of primitive, large malignant germ cells and lymphocytes." "" + "central nervous system germinoma" "A malignant germ cell tumor arising from the central nervous system. It is composed of uniform cells resembling primitive germ cells. These cells have large, vesicular nuclei, prominent nucleoli and a clear, glycogen-rich cytoplasm. Additional features are lymphoid or lymphoplasmacytic infiltrates and, less frequently, scattered syncytiotrophoblastic giant cells. (Adapted from WHO)" "" + "obsolete atypical teratoid rhabdoid tumor" "" "true" + "brain sarcoma" "A sarcoma arising from the brain." "" + "temporal lobe cancer" "A cancer that involves the temporal lobe." "" + "neoplasm of temporal lobe" "A neoplasm (disease) that involves the temporal lobe." "" + "urethral urothelial papilloma" "Papilloma's are benign epithelial neoplasms that produce visible warty projections from epithelial surfaces. Papilloma's of the urethra typically occur just within or on the external meatus. - 2003" "" + "urothelial papilloma" "A rare benign condition, characterized by a papillary growth in the urinary tract with a central fibrovascular core. The latter is lined by normal urothelium." "" + "urethra leiomyoma" "A benign smooth muscle neoplasm arising from the urethra. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern." "" + "ovarian malignant mesothelioma" "A rare malignant mesothelial neoplasm that usually involves both the ovarian surface and the ovarian stroma. In most cases there is bilateral ovarian involvement." "" + "malignant mesothelioma" "A malignant neoplasm of the pleura or peritoneum, arising from mesothelial cells. It is associated with exposure to asbestos." "" + "ovarian cancer" "A primary or metastatic malignant neoplasm involving the ovary. Most primary malignant ovarian neoplasms are either carcinomas (serous, mucinous, or endometrioid adenocarcinomas) or malignant germ cell tumors. Metastatic malignant neoplasms to the ovary include carcinomas, lymphomas, and melanomas." "" + "malignant ovarian cyst" "A cystic cancerous tumor arising from the ovary." "" + "ovarian sarcoma" "A rare, aggressive malignant mesenchymal neoplasm that arises from the ovary. The prognosis is poor." "" + "tuberculous oophoritis" "An urogenital tuberculosis involving a pathogenic inflammatory response in the ovary." "" + "ovarian lymphoma" "A lymphoma that affects the ovary. Lymphomatous involvement of the ovary is rare and in approximately half of the cases both ovaries are affected." "" + "obsolete malignant ovarian surface epithelial-stromal neoplasm" "" "true" + "ovarian epithelial tumor" "A benign, borderline, or malignant tumor that originates from the surface epithelium of the ovary. It is composed of epithelial cells and stroma. Representative examples of benign tumors include serous cystadenoma, mucinous cystadenoma, and benign Brenner tumor. Representative examples of borderline tumors include serous surface papillary tumor, mucinous adenofibroma, and borderline Brenner tumor. Representative examples of malignant tumors include serous adenocarcinoma, mucinous adenocarcinoma, endometrioid adenocarcinoma, and malignant Brenner tumor." "" + "epithelial neoplasm" "A benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas." "" + "ovarian Wilms tumor" "An embryonal neoplasm arising from the ovary with morphologic features resembling Wilms tumor of the kidney. It occurs during the reproductive age and may present as a rapidly growing adnexal mass." "" + "Wilms tumor" "An embryonal neoplasm characterized by the presence of epithelial, mesenchymal, and blastema components. The vast majority of cases arise from the kidney. A small number of cases with morphologic features resembling Wilms tumor of the kidney have been reported arising from the ovary and the cervix." "" + "obsolete malignant ovarian germ cell neoplasm" "" "true" + "nasal cavity disorder" "A disease involving the nasal cavity." "" + "enamel caries" "A dental caries that involves the enamel." "" + "eyelid neoplasm" "A benign or malignant neoplasm that affects the eyelid. Representative examples include hemangioma, nevus, and carcinoma." "" + "eye neoplasm" "A neoplasm (disease) that involves the eye." "" + "ocular cancer" "A benign or malignant neoplasm affecting the structures of the eye." "" + "carbuncle" "An infection of cutaneous and subcutaneous tissue that consists of a cluster of boils. Commonly, the causative agent is staphylococcus aureus. Carbuncles produce fever, leukocytosis, extreme pain, and prostration." "" + "ascending colon cancer" "A malignant neoplasm involving the ascending colon." "" + "post-surgical hypoinsulinemia" "" + "acute perichondritis of pinna" "Acute form of perichondritis of auricle." "" + "factor XIII deficiency" "An acquired or inherited coagulation disorder due to reduced levels and activity of factor XIII." "" + "coagulation protein disease" "Congenital or acquired deficiency of one of the coagulation factors. It results in bleeding." "" + "factor VII deficiency" "A coagulation disorder characterized by the partial or complete absence of factor VII activity in the blood." "" + "factor X deficiency" "A coagulation disorder characterized by the partial or complete absence of factor X activity in the blood." "" + "obsolete myeloproliferative neoplasm" "" "true" + "thrombocytosis disease" "A disease characterized by higher than normal platelet counts in the peripheral blood." "" + "basilar artery insufficiency" "A syndrome which occurs as a result of the occlusion of the basilar artery. It may be caused by atherosclerosis, embolism or hemorrhage. Clinical signs include dizziness, headache, vomiting, hemiparesis or hemiplegia, dysarthria, dysphagia, blurred vision and loss of consciousness. The clinical course is variable and is dependent upon the extent of the occlusion and the location of the clot along the basilar artery which determines the resultant neurologic impairment. Prognosis is dismal in cases where a complete occlusion occurs with rapid deterioration of neurological function." "" + "granulomatous hepatitis" "Hepatitis that is characterized by the presence of granulomas." "" + "spondylosis" "A degenerative spinal disease that can involve any part of the vertebra, the intervertebral disk, and the surrounding soft tissue." "" + "hypertrophic elongation of cervix" "" + "ankylosis" "Fixation and immobility of a joint." "" + "pharyngitis" "Inflammation of the throat most often caused by viral and bacterial infections. Other causes include allergens, chemical substances, and trauma." "" + "head or neck disorder/disorder" "Any disease or disorder affecting the head and/or neck region." "True" + "hidradenitis" "An inflammatory disease involving a pathogenic inflammatory response in the apocrine sweat gland." "" + "apocrine sweat gland disorder" "A disease that involves the apocrine sweat gland." "" + "capillary lymphangioma" "A lymphangioma that involves the capillary." "" + "benign blood vessel neoplasm" "A benign neoplasm arising from arteries or veins." "" + "obsolete atrophy of prostate" "" "true" + "stereotypic movement disorder" "Motor behavior that is repetitive, often seemingly driven, and nonfunctional. This behavior markedly interferes with normal activities or results in severe bodily self-injury. The behavior is not due to the direct physiological effects of a substance or a general medical condition. (dsm-iv, 1994)" "" + "malt worker's lung" "An extrinsic allergic alveolitis caused by infection with Aspergillus." "" + "allergic bronchopulmonary aspergillosis" "Allergic bronchopulmonary aspergillosis (ABPA) is a rare immunologic pulmonary disorder caused by hypersensitivity to Aspergillus fumigatus, clinically manifesting with poorly controlled asthma and recurrent pulmonary infiltrates." "" + "obstructive lung disease" "Any disorder marked by obstruction of conducting airways of the lung. airway obstruction may be acute, chronic, intermittent, or persistent." "" + "dyspepsia" "An uncomfortable, often painful feeling in the stomach, resulting from impaired digestion. Symptoms include burning stomach pain, bloating, heartburn, nausea, and vomiting. Causes include gastritis, gastric ulcer, gastroesophageal reflux disease, pancreatic disease, and gallbladder disease." "" + "viral gastritis" "Inflammation of the stomach resulting from viral infection." "" + "polyclonal hypergammaglobulinemia" "A laboratory test result indicating abnormally high proliferation of gamma globulins in the blood originating from multiple cell lines." "" + "plasma protein metabolism disease" "An inherited metabolic disorder that involves plasma protein metabolism malfunction." "" + "monoclonal paraproteinemia disease" "A disease characterized by the presence of excessive amounts of paraprotein or single monoclonal gammaglobulin in the blood. It is usually due to an underlying immunoproliferative disorder or hematologic neoplasms, especially multiple myeloma." "" + "monoclonal gammopathy" "A condition characterized by the abnormal presence of monoclonal immunoglobulins in the blood or urine." "" + "generalized atherosclerosis" "Atherosclerosis that is not localized." "" + "obsolete arteriosclerotic cardiovascular disease" "" "true" + "colonic neoplasm" "A benign or malignant neoplasm that affects the colon. Representative examples of benign neoplasms include lipoma and leiomyoma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and sarcoma. Colonic adenomas always exhibit epithelial dysplasia and are considered premalignant neoplasms." "" + "benign neoplasm of large intestine" "A benign neoplasm that involves the large intestine." "" + "West Nile fever" "A mosquito-borne viral illness caused by the west nile virus, a flavivirus and endemic to regions of Africa, Asia, and Europe. Common clinical features include headache; fever; maculopapular rash; gastrointestinal symptoms; and lymphadenopathy. meningitis; encephalitis; and myelitis may also occur. The disease may occasionally be fatal or leave survivors with residual neurologic deficits. (From Joynt, Clinical Neurology, 1996, Ch26, p13; Lancet 1998 Sep 5;352(9130):767-71)" "" + "neuroaxonal dystrophy" "A nonspecific term referring both to the pathologic finding of swelling of distal portions of axons in the brain and to disorders which feature this finding. Neuroaxonal dystrophy is seen in various genetic diseases, vitamin deficiencies, and aging. Infantile neuroaxonal dystrophy is an autosomal recessive disease characterized by arrested psychomotor development at 6 months to 2 years of age, ataxia, brain stem dysfunction, and quadriparesis. Juvenile and adult forms also occur. Pathologic findings include brain atrophy and widespread accumulation of axonal spheroids throughout the neuroaxis, peripheral nerves, and dental pulp. (From Davis & Robertson, Textbook of Neuropathology, 2nd ed, p927)" "" + "obsolete gangliosidosis" "" "true" + "iris disorder" "A disease involving the iris." "" + "glandular cystitis" "A reactive inflammatory disorder affecting the bladder. It is characterized by the development of small cysts in the bladder wall. The cysts are lined by metaplastic glandular cells." "" + "chronic cystitis" "Recurrent infections of the urinary bladder." "" + "obsolete ovarian cancer" "" "true" + "clitoris cancer" "A malignant neoplasm that affects the clitoris." "" + "clitoris neoplasm" "A neoplasm involving a clitoris." "" + "cutaneous granular cell tumor" "A granular cell tumor that involves the zone of skin." "" + "granular cell tumor" "An unusual benign or malignant neoplasm characterized by the presence of neoplastic large polygonal cells with granular, eosinophilic cytoplasm which contains abundant lysosomes. It was originally thought to be a tumor originating from muscle cells and was named granular cell myoblastoma. Subsequent studies have suggested a derivation from Schwann cells. It affects females more often than males and it usually presents as a solitary mass. A minority of patients have multiple tumors. It can arise from many anatomic sites including the posterior pituitary gland, skin, oral cavity, esophagus, stomach, heart, mediastinum, and breast." "" + "dermis tumor" "A benign, intermediate, or malignant neoplasm that arises from the dermis." "" + "obsolete granular cell tumor" "" "true" + "cutaneous ganglioneuroma" "A ganglioneuroma arising from the skin." "" + "ganglioneuroma" "A benign neuroblastic tumor of the sympathetic nervous system that occurs in childhood. Ganglioneuroma typically arises from the sympathetic trunk in the mediastinum. Histologic features include spindle cell proliferation (resembling a neurofibroma) and the presence of large ganglion cells. Common presenting features include a palpable abdominal mass, hepatomegaly, and a thoracic mass detected on routine chest X-ray." "" + "obsolete gangliocytoma" "" "true" + "skin glomus tumor" "A glomus tumor arising from the skin. It usually presents as a small red-blue nodule and it often associated with pain at the site." "" + "glomus tumor" "A rare benign or malignant mesenchymal neoplasm arising from cells that resemble the modified smooth muscle cells of the glomus body. The majority of glomus tumors occur in the distal extremities." "" + "obsolete glomus tumor" "" "true" + "epidermal appendage tumor" "A benign or malignant neoplasm that arises from the hair follicles, sebaceous glands, or sweat glands." "" + "cutaneous glomangioma" "A glomus tumor arising from the skin. It is characterized by the presence of dilated veins surrounded by glomus cells." "" + "glomangioma" "A morphologic variant of the glomus tumor characterized by the presence of dilated veins, surrounded by small clusters of glomus cells. Glomangiomas are most often present in patients with multiple lesions." "" + "dermis disorder" "A disease that involves the dermis." "" + "frontal sinus squamous cell carcinoma" "A squamous cell carcinoma that arises from the mucosal epithelial surface of the frontal sinus. Patients may present with nasal fullness, obstruction, and/or epistaxis." "" + "obsolete acromegaly" "" "true" + "protein S deficiency" "Protein S deficiency is a disorder that causes abnormal blood clotting. When someone bleeds, the blood begins a complicated series of rapid chemical reactions involving proteins called blood coagulation factors to stop the bleeding. Other proteins in the blood, such as protein S, usually regulate these chemical reactions to prevent excessive clotting. When protein S is missing (deficient), clotting may not be regulatednormally and affected individuals havean increased risk of forming a blood clot called a thrombosis. People at risk to haveprotein S deficiencyare those with an individual or family history of multiple blood clots in the veins. Treatment may include taking medication known as blood thinners to decrease the chance of developing a blood clot." "" + "angular blepharoconjunctivitis" "A blepharoconjunctivitis that is characterized by fissuring, scaling, maceration and erythema of the lateral or medial canthal area." "" + "giant papillary conjunctivitis" "Conjunctivitis that is associated with contact lens wear, and which is characterized by giant papillae in the tarsal conjunctiva." "" + "papillary conjunctivitis" "Conjunctivitis that is characterized by the formation of papillae on the palpebral conjunctiva." "" + "anterior dislocation of lens" "" + "disorder of central nervous system or retinal vasculature" "" + "vernal conjunctivitis" "Inflammation of the cornea that is seasonal in nature." "" + "obsolete hereditary spastic paraplegia" "" "true" + "motor peripheral neuropathy" "Inflammation or degeneration of the peripheral motor nerves." "" + "central nervous system origin vertigo" "An illusion of movement, either of the external world revolving around the individual or of the individual revolving in space. Vertigo may be associated with disorders of the inner ear (ear, inner); vestibular nerve; brainstem; or cerebral cortex. Lesions in the temporal lobe and parietal lobe may be associated with focal seizures that may feature vertigo as an ictal manifestation. (From Adams et al., Principles of Neurology, 6th ed, pp300-1)" "" + "trachea leiomyoma" "A benign smooth muscle neoplasm arising from the trachea. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern." "" + "benign neoplasm of trachea" "A benign neoplasm that involves the trachea." "" + "sensory peripheral neuropathy" "Inflammation or degeneration of the sensory nerves." "" + "cherry hemangioma" "A capillary hemangioma of the skin, presenting as a red papular lesion." "" + "capillary hemangioma" "A common hemangioma characterized by the presence of capillary-sized vascular channels without prominent epithelioid endothelial cells." "" + "obsolete enamel erosion" "" "true" + "intracranial cavernous angioma" "A cavernous hemangioma arising from the brain and meninges." "" + "intracranial hemangioma" "A hemangioma arising from the brain and meninges." "" + "benign neoplasm of brain" "A benign neoplasm that involves the brain." "" + "alcoholic psychosis" "A group of mental disorders associated with organic brain damage and caused by poisoning from alcohol." "" + "nephrosis" "Pathological processes of the KIDNEY without inflammatory or neoplastic components. Nephrosis may be a primary disorder or secondary complication of other diseases. It is characterized by the NEPHROTIC SYNDROME indicating the presence of PROTEINURIA and HYPOALBUMINEMIA with accompanying EDEMA." "" + "splenic abscess" "An abscess that is located in the spleen." "" + "hematopoietic and lymphoid system neoplasm" "Neoplasms of the hematopoietic system, including hematopoietic cell neoplasms (e.g. leukemias, lymphomas) and non-hematopoietic cell neoplasms that can affect the hematopoietic system (e.g. lymph node and splenic sarcomas). --2003" "" + "chronic inflammatory demyelinating polyneuritis" "An immunologic inflammatory disorder characterized by loss of myelin in the peripheral nerves. Patients present with progressive weakness and loss of sensory function in the legs and arms." "" + "demyelinating polyneuropathy" "Polyneuropathy that is characterized by demyelination of axons." "" + "chronic polyneuropathy" "Polyneuropathy that is persistent or long-standing in nature." "" + "intra-abdominal hemangioma" "A hemangioma arising from organs within the abdominal cavity." "" + "extratemporal epilepsy" "An epilepsy syndrome that is located in an area of the brain other than the temporal lobe." "" + "obsolete hemangioma" "" "true" + "tactile epilepsy" "" + "granulomatous angiitis" "Inflammation of the arteries that is characterized by the presence of granulomas." "" + "chondromalacia" "Pathological processes involving the chondral tissue (cartilage)." "" + "articular cartilage disorder" "A disease involving the articular cartilage of joint." "" + "splenic hemangioma" "A hemangioma arising from the spleen." "" + "benign neoplasm of spleen" "A benign neoplasm that involves the spleen." "" + "obsolete corneal dystrophy" "" "true" + "obsolete malignant histiocytic disease" "" "true" + "barbiturate dependence" "A drug dependence that involves the continued use of barbiturates despite problems related to use of the substance." "" + "drug dependence" "Drug dependence - replaced the term \"drug addiction\" and is defined as a state, psychic and sometimes also physical, resulting from the interaction between a living organism and a drug, characterized by behavioral and other responses that always include a compulsion to take the drug on a continuous or periodic basis in order to experience its psychic effects, and sometimes to avoid the discomfort of its absence. Tolerance may or may not be present. A person may be dependent on more than one drug." "" + "obsolete chondrodysplasia punctata" "" "true" + "obsolete agammaglobulinemia" "" "true" + "familial nephrotic syndrome" "An instance of nephrotic syndrome that is caused by an inherited modification of the individual's genome." "" + "nephrotic syndrome" "A collection of symptoms that include severe edema, proteinuria, and hypoalbuminemia; it is indicative of renal dysfunction." "" + "glottis cancer" "A malignant neoplasm that affects the glottic area of the larynx. The vast majority of cases represent squamous cell carcinomas." "" + "glottis neoplasm" "A benign or malignant neoplasm that affects the glottic area of the larynx." "" + "glottis carcinoma" "A carcinoma that arises from epithelial cells of the glottis." "" + "laryngeal carcinoma" "Carcinoma that arises from the laryngeal epithelium. More than 90% of laryngeal carcinomas are squamous cell carcinomas. The remainder are adenoid cystic carcinomas, mucoepidermoid carcinomas and carcinomas with neuroendocrine differentiation." "" + "hepatic flexure cancer" "A malignant neoplasm involving the hepatic flexure of colon." "" + "periosteal chondroma" "A benign neoplasm of bone surface composed of hyaline cartilage. It arises beneath the periosteum and is characterized by the presence of chondrocytes, a lobulated growth pattern, and calcification." "" + "connective tissue neoplasm" "Neoplasms composed of connective tissue, including elastic, mucous, reticular, osseous, and cartilaginous tissue. The concept does not refer to neoplasms located in connective tissue." "" + "benign chondrogenic neoplasm" "A non-metastasizing cartilaginous matrix-producing neoplasm characterized by the presence of neoplastic chondrocytes. Representative examples include osteochondroma and chondroma." "" + "transverse colon cancer" "A malignant neoplasm involving the transverse colon." "" + "serous surface papilloma" "A non-invasive papillary serous epithelial neoplasm usually arising from the ovary." "" + "papillary epithelial neoplasm" "" + "obsolete Wolffian duct adenoma" "" "true" + "kidney hemangiopericytoma" "A hemangiopericytoma arising from the kidney." "" + "hemangiopericytoma" "An antiquated term that refers to benign or malignant mesenchymal neoplasms characterized by the presence of neoplastic spindle-shaped to round cells arranged around thin-walled branching vascular spaces." "" + "kidney neoplasm" "A benign or malignant neoplasm affecting the kidney. Representative examples of benign renal neoplasms include fibroma, lipoma, oncocytoma, and juxtaglomerular cell tumor. Representative examples of malignant renal neoplasms include renal cell carcinoma, renal pelvis carcinoma, Wilms tumor, rhabdoid tumor, sarcoma, and lymphoma." "" + "kidney cancer" "Primary or metastatic malignant neoplasm involving the kidney." "" + "papillary serous cystadenocarcinoma" "A malignant cystic serous epithelial neoplasm characterized by the presence of malignant glandular epithelial cells forming papillary structures. Stromal invasion is present." "" + "papillary cystadenocarcinoma" "A malignant cystic serous or mucinous epithelial neoplasm characterized by the presence of malignant glandular epithelial cells forming papillary structures. Stromal invasion is present." "" + "serous cystadenocarcinoma" "A malignant serous cystic neoplasm usually involving the ovary or the pancreas. It is characterized by the presence of invasive malignant glandular epithelial cells which often form papillary structures." "" + "cystadenoma" "A benign or borderline cystic epithelial neoplasm arising from the glandular epithelium. The epithelial cells line the cystic spaces which contain serous or mucinous fluid. Representative examples include ovarian and pancreatic cystadenomas." "" + "cystic neoplasm" "A benign or malignant neoplasm that contains a single or multiple cystic spaces. Examples include cystadenoma, mucinous cystadenocarcinoma, and serous cystadenocarcinoma." "" + "ovarian Brenner tumor" "A benign, borderline, or malignant transitional cell neoplasm arising from the ovary. It constitutes between 1% and 2% of all ovarian neoplasms. The average age at presentation is about 50 years. Grossly it is usually unilateral, firm and white or yellowish. Microscopically it consists of solid and cystic nests of epithelial cells resembling transitional epithelium surrounded by an abundant stromal component of dense, fibroblastic nature." "" + "Brenner tumor" "A usually benign tumor composed of solid and cystic nests of epithelial cells resembling transitional epithelium; it is surrounded by an abundant stromal component that is dense and fibroblastic in nature." "" + "breast pericanalicular fibroadenoma" "A morphologic variant of breast fibroadenoma without clinical significance. It is characterized by circumferential proliferation of stromal cells around the ducts. This results in the formation of rounded ductal-epithelial structures." "" + "ovarian monodermal and highly specialized teratoma" "A teratoma of the ovary composed exclusively or predominantly of a single type of tissue derived from the ectoderm or endoderm. A representative example is struma ovarii which is a teratoma composed exclusively or predominantly of thyroid tissue." "" + "ovarian monodermal teratoma" "A teratoma that arises from the ovary and is characterized by the presence of tissues derived exclusively from one embryonic germ cell layer." "" + "mesothelioma" "A usually malignant and aggressive neoplasm of the mesothelium which is often associated with exposure to asbestos." "" + "obsolete parachordoma" "" "true" + "sebaceous adenoma" "A benign, well circumscribed neoplasm arising from the sebaceous glands. It usually presents as a small yellowish tumor in the sun exposed skin of head and neck. It is characterized by the presence of sebaceous cells aggregates with a peripheral rim of basaloid cells." "" + "sebaceous gland neoplasm" "A benign or malignant neoplasm that arises from the sebaceous glands. Representative examples include sebaceous adenoma and sebaceous carcinoma." "" + "epithelial skin neoplasm" "A epithelial neoplasm that involves the zone of skin." "" + "spleen angiosarcoma" "A malignant vascular neoplasm arising from the spleen." "" + "angiosarcoma" "A malignant tumor arising from the endothelial cells of the blood vessels. Microscopically, it is characterized by frequently open vascular anastomosing and branching channels. The malignant cells that line the vascular channels are spindle or epithelioid and often display hyperchromatic nuclei. Angiosarcomas most frequently occur in the skin and breast. Patients with long-standing lymphedema are at increased risk of developing angiosarcoma." "" + "spleen cancer" "A malignant neoplasm involving the spleen" "" + "breast intracanalicular fibroadenoma" "A morphologic variant of breast fibroadenoma without clinical significance. It is characterized by distortion and compression of the ducts by proliferating stromal cells." "" + "cystic teratoma" "" + "teratoma" "A non-seminomatous germ cell tumor characterized by the presence of various tissues which correspond to the different germinal layers (endoderm, mesoderm, and ectoderm). It occurs in the testis, ovary, and extragonadal sites including central nervous system, mediastinum, lung, and stomach. According to the level of differentiation of the tissues which comprise the tumor, teratomas are classified as mature or immature. Mature teratomas are composed of well differentiated, adult-type tissues. Immature teratomas are composed of immature, fetal-type tissues. Testicular teratomas in children follow a benign clinical course. Mature ovarian teratomas without a fetal-type component have an excellent outcome. The prognosis of immature ovarian teratomas is related to the grade and stage of the tumor." "" + "myoepithelial tumor" "A benign or malignant tumor characterized by the presence of cells that show myoepithelial differentiation. Based on its morphologic features, it is classified as benign or malignant. A representative example of benign myoepithelioma is benign salivary gland myoepithelioma. Representative examples of malignant myoepithelioma or myoepithelial carcinoma are malignant breast myoepithelioma and salivary gland myoepithelial carcinoma." "" + "sweat gland disorder" "A disease involving the sweat gland." "" + "benign mesenchymoma" "A term describing a benign soft tissue tumor which consists of two or more mesenchymal lines of differentiation, excluding a fibroblastic line of differentiation." "" + "mesenchymoma" "A term describing a soft tissue tumor which consists of two or more mesenchymal lines of differentiation, excluding a fibroblastic line of differentiation." "" + "Pacinian tumor" "A neurofibroma characterized by the presence of structures which resemble Vater-Pacini corpuscles." "" + "obsolete transitional cell carcinoma" "" "true" + "benign cystic nephroma" "A benign encapsulated neoplasm of the kidney, characterized by the presence of cysts separated by septa. There are no solid areas present. The septa are lined by one layer of epithelial cells that have eosinophilic or clear cytoplasm. The cystic spaces contain serous or hemorrhagic fluid." "" + "mixed epithelial stromal tumor of the kidney" "A rare, usually benign neoplasm that arises from the kidney. It usually affects females. It is characterized by the presence of a biphasic pattern with tubular and cystic structures in a spindle cell stroma. Patients usually present with flank pain and hematuria." "" + "mixed epithelial stromal tumor" "" + "liver angiosarcoma" "A malignant vascular neoplasm arising from the liver." "" + "liver sarcoma" "A malignant soft tissue neoplasm that arises from the liver. Representative examples include angiosarcoma, undifferentiated (embryonal) sarcoma, rhabdomyosarcoma, and leiomyosarcoma." "" + "intracystic papillary adenoma" "A papillary epithelial neoplasm arising in a cystically dilated breast duct." "" + "intraductal breast papilloma" "A benign papillary neoplasm that arises anywhere in the ductal system of the breast. It is characterized by fibrovascular structures lined by benign epithelial and myoepithelial proliferations. Intraductal breast papillomas are classified as central, when they arise in large ducts, or peripheral, when they arise in the terminal ductal lobular units." "" + "obsolete adenofibroma" "" "true" + "obsolete ossifying fibromyxoid tumor" "" "true" + "obsolete skin sarcoma" "" "true" + "obsolete lymphangiosarcoma" "" "true" + "" "true" + "benign muscle neoplasm" "A benign mesenchymal neoplasm arising from smooth, skeletal, or cardiac muscle tissue." "" + "obsolete Leydig cell tumor" "" "true" + "renal adenoma" "An adenoma arising from the renal cortex." "" + "nephrogenic adenofibroma" "A benign, solitary, and partially cystic neoplasm arising from the kidney. It occurs in children and adults. Presenting symptoms include hematuria and polycythemia. It is characterized by the presence of epithelial nodules embedded in a stroma containing spindle cells." "" + "fibroepithelial neoplasm" "A benign, borderline, or malignant neoplasm characterized by the presence of an epithelial and a fibrous component. Representative examples are fibroadenoma and phyllodes tumor." "" + "liver cancer" "An epithelial or non-epithelial malignant neoplasm that arises from the liver. Representative examples include hepatocellular carcinoma, intrahepatic cholangiocarcinoma, lymphoma, and sarcoma." "" + "mucinous adenofibroma" "A benign adenofibroma characterized by the presence of epithelial cells which contain intracytoplasmic mucin and a fibrotic stroma. A representative example is the ovarian mucinous adenofibroma. Cases with epithelial atypia described in the ovary lacking stromal invasion are designated as borderline mucinous adenofibromas and have a low grade malignant potential." "" + "adenofibroma" "A benign neoplasm characterized by the presence of connective tissue stroma and epithelial structures. It occurs in the ovary, fallopian tube, uterine corpus, and cervix. Cases of adenofibroma of the ovary with low grade malignant potential have also been reported." "" + "tenosynovial giant cell tumor, localized type" "A well-circumscribed, lobulated tumor, completely or partially covered by a fibrous capsule. It usually arises in the fingers. It is characterized by the presence of mononuclear cells, multinucleated osteoclast-like giant cells, hemosiderin-laden macrophages, foam cells, and an inflammatory infiltrate. The tumor is slow-growing, usually developing over several years. Clinical presentation includes painless edema of the affected site." "" + "tenosynovial giant cell tumor" "A tumor usually arising in the synovium of joints, bursa or tendon sheath. It is characterized by the presence of mononuclear cells, multinucleated osteoclast-like giant cells, hemosiderin-laden macrophages, foam cells, and an inflammatory infiltrate. According to the growth pattern, it is classified as localized or diffuse." "" + "benign synovial neoplasm" "A benign neoplasm arising from the synovial membrane. Examples include the diffuse giant cell tumor of tendon sheath and localized giant cell tumor of tendon sheath." "" + "malignant tenosynovial giant cell tumor" "An uncommon malignant tumor arising from the tendon sheath. Morphologically, it is characterized by the presence of a cellular infiltrate reminiscent of a giant cell tumor with prominent malignant characteristics. Recurrent giant cell tumors with a sarcomatous dedifferentiation are included in this category as well." "" + "malignant giant cell tumor" "A malignant neoplasm characterized by then presence of atypical giant cells." "" + "synovium cancer" "A cancer that involves the layer of synovial tissue." "" + "synovium neoplasm" "A benign or malignant soft tissue neoplasm arising exclusively from the synovial membrane. Examples include the diffuse giant cell tumor of tendon sheath, localized giant cell tumor of tendon sheath, and malignant giant cell tumor of tendon sheath." "" + "liver hemangioma" "A hemangioma arising from the liver." "" + "congenital hemangioma" "A hemangioma present and fully formed at birth. The different types are Rapidly involuting congenital hemangiomas (RICH), Partially involuting congenital hemangioma (PICH) and Non-involuting congenital hemangiomas (NICH)." "" + "hereditary hyperbilirubinemia" "An inherited disorder affecting the metabolism of bilirubin. It results in increased levels of bilirubin in the blood. Representative examples of this condition include Gilbert syndrome and Crigler-Najjar syndrome." "" + "hyperbilirubinemia" "A disease characterized by elevated level of the pigment bilirubin in the blood." "" + "inborn disorder of bilirubin metabolism" "An instance of bilirubin metabolism disease that is caused by an inherited modification of the individual's genome." "" + "pyeloureteritis cystica" "" + "pyelitis" "Inflammation of the renal pelvis." "" + "narcissistic personality disorder" "A disorder characterized by an enduring pattern of grandiose beliefs and arrogant behavior together with an overwhelming need for admiration and a lack of empathy for (and even exploitation of) others." "" + "glycogen storage disease" "An inherited metabolic disorder characterized either by defects in glycogen synthesis or defects in the breaking down of glycogen. It results either in the creation of abnormal forms of glycogen or accumulation of glycogen in the tissues." "" + "inborn carbohydrate metabolic disorder" "An acquired metabolic disease that is has its basis in the disruption of carbohydrate metabolic process." "" + "glycogen storage disease I" "Glycogenosis due to glucose-6-phosphatase (G6P) deficiency or glycogen storage disease, (GSD), type 1, is a group of inherited metabolic diseases, including types a and b, and characterized by poor tolerance to fasting, growth retardation and hepatomegaly resulting from accumulation of glycogen and fat in the liver." "" + "gastric hemangioma" "A hemangioma arising from the stomach." "" + "ethmoid sinus squamous cell carcinoma" "A squamous cell carcinoma that arises from the mucosal epithelial surface of the ethmoid sinus. Patients may present with nasal fullness, obstruction, and/or epistaxis." "" + "obsolete ethmoid sinus adenoid cystic carcinoma" "" "true" + "ethmoid sinus adenocarcinoma" "A carcinoma that arises from glandular epithelial cells of the epithelial cell" "" + "transient tic disorder" "A neurological disorder presenting in childhood that is characterized by motor and/or phonic tics that occur daily or nearly daily for one to twelve months and are not attributed to an identifiable cause." "" + "obsolete chorioangioma" "" "true" + "adamantinoma" "A low grade malignant neoplasm arising from the long bones. The tibia is the most frequently affected bone site. Patients present with swelling which may or may not be associated with pain. Morphologically, it is characterized by a biphasic pattern consisting of an epithelial and an osteofibrous component. The vast majority of cases recur if they are not treated with radical surgery. In a minority of cases the tumor may metastasize to other anatomic sites including lymph nodes, lungs, liver, brain, and skeleton." "" + "obsolete inherited syndrome with bone tumors as a major feature" "True" "true" + "rectosigmoid junction neoplasm" "A benign or malignant neoplasm that affects the rectosigmoid region. Representative examples of benign neoplasms include lipoma and leiomyoma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and sarcoma. Rectosigmoid adenomas always exhibit epithelial dysplasia and are considered premalignant neoplasms." "" + "rectosigmoid carcinoma" "A malignant epithelial neoplasm that arises from the rectosigmoid area and invades through the muscularis mucosa into the submucosa. The vast majority are adenocarcinomas. About 50% of colorectal carcinomas occur in the rectosigmoid area." "" + "rectosigmoid junction cancer" "A primary or metastatic malignant neoplasm that affects the rectosigmoid area. Representative examples include carcinoma, lymphoma, and sarcoma." "" + "lung sarcoma" "A malignant mesenchymal neoplasm that arises from the lung. Representative examples include Kaposi sarcoma, leiomyosarcoma, and synovial sarcoma." "" + "lung cancer" "A malignant neoplasm involving the lung." "" + "idiopathic interstitial pneumonia" "A class of diffuse lung diseases that typically affect the pulmonary interstitium, although some also have a component affecting the airways (for instance, Cryptogenic organizing pneumonitis)." "" + "primary interstitial lung disease specific to adulthood" "" + "obsolete acute interstitial pneumonia" "" "true" + "obsolete nonspecific interstitial pneumonia" "" "true" + "malignant neoplasm of acoustic nerve" "A malignant neoplasm involving the vestibulocochlear nerve." "" + "malignant cranial nerve neoplasm" "Abnormal malignant growth of the cells that comprise the cranial nerve." "" + "auditory system cancer" "A malignant neoplasm involving the auditory system" "" + "vestibulocochlear nerve neoplasm" "A neoplasm (disease) that involves the vestibulocochlear nerve." "" + "oculomotor nerve cancer" "A cancer involving a oculomotor nerve." "" + "oculomotor nerve neoplasm" "A neoplasm involving a oculomotor nerve." "" + "dehydration polycythemia" "Polycythemia resulting from dehydration." "" + "acquired secondary polycythemia" "An instance of secondary polycythemia that is acquired during the lifetime of the individual." "" + "acquired polycythemia" "An instance of polycythemia that is acquired during the lifetime of the individual." "" + "obsolete stress polycythemia" "" "true" + "erythropoietin polycythemia" "Polycythemia that is caused by excess erythropoietin." "" + "Jervell and Lange-Nielsen syndrome" "An autosomal recessive inherited syndrome caused by mutations in the KCNE1 and KCNQ1 genes. It is characterized by congenital hearing loss and arrhythmia. It is a form of long QT syndrome." "" + "familial long QT syndrome" "A hereditary cardiac disease characterized by a prolongation of the QT interval at basal ECG and by a high risk of life-threatening arrhythmias." "" + "syndromic genetic hearing loss" "" + "long QT syndrome" "A condition that is characterized by episodes of fainting (syncope) and varying degree of ventricular arrhythmia as indicated by the prolonged QT interval. The inherited forms are caused by mutation of genes encoding cardiac ion channel proteins. The two major forms are Romano-Ward syndrome (also known as long QT syndrome 1) and Jervell-Lange Nielsen syndrome." "" + "torsades de pointes" "A malignant form of polymorphic ventricular tachycardia that is characterized by heart rate between 200 and 250 beats per minute, and qrs complexes with changing amplitude and twisting of the points. The term also describes the syndrome of tachycardia with prolonged ventricular repolarization, long qt intervals exceeding 500 milliseconds or bradycardia. Torsades de pointes may be self-limited or may progress to ventricular fibrillation." "" + "bruxism" "Excessive clenching of the jaw and grinding of the teeth." "" + "sleep-wake disorder" "Abnormal sleep-wake schedule or pattern associated with the circadian rhythm which affect the length, timing, and/or rigidity of the sleep-wake cycle relative to the day-night cycle." "" + "melancholia" "A subtype of depression characterized by the inability to find pleasure in positive things combined with physical agitation, insomnia, or decreased appetite." "" + "obsolete hemoglobin c disease" "" "true" + "obsolete hemoglobinopathy" "" "true" + "uterine carcinoma" "A carcinoma involving a uterus." "" + "endometrial cancer" "Primary or metastatic malignant neoplasm involving the endometrium (mucous membrane that lines the endometrial cavity)." "" + "laryngeal sarcoma" "A rare malignant soft tissue neoplasm that arises from the larynx." "" + "nodular degeneration of cornea" "" + "prostatic adenoma" "Focal benign glandular hyperplasia in the prostate gland." "" + "benign neoplasm of prostate" "A benign neoplasm that involves the prostate gland." "" + "benign prostate phyllodes tumor" "A rare benign neoplasm that arises from the prostate gland and is characterized by the presence of hyperplastic glands and stroma that contains spindle-shaped cells." "" + "benign phyllodes tumor" "A benign, circumscribed fibroepithelial neoplasm arising from the breast and rarely the prostate gland. It is characterized by the presence of epithelial structures which are arranged in clefts and by a hypercellular mesenchymal stroma which is organized in leaf-like structures. There is no evidence of cellular atypia or sarcomatous features." "" + "prostate leiomyoma" "A benign smooth muscle neoplasm arising from the prostate. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern." "" + "thyroid adenoma" "A adenoma that involves the thyroid gland." "" + "exocervical carcinoma" "A carcinoma that arises from the squamous epithelium of the exocervix." "" + "cervical carcinoma" "A carcinoma arising from either the exocervical squamous epithelium or the endocervical glandular epithelium. The major histologic types of cervical carcinoma are: squamous carcinoma, adenocarcinoma, adenosquamous carcinoma, adenoid cystic carcinoma and undifferentiated carcinoma." "" + "obsolete cervix carcinoma" "" "true" + "Treacher-Collins syndrome" "Treacher-Collins syndrome is a congenital disorder of craniofacial development characterized by bilateral symmetrical oto-mandibular dysplasia without abnormalities of the extremities, and associated with several head and neck defects." "" + "branchial arch or oral-acral syndrome" "" + "mandibulofacial dysostosis" "A hereditary disorder occurring in two forms: the complete form (Franceschetti's syndrome) is characterized by antimongoloid slant of the palpebral fissures, coloboma of the lower lid, micrognathia and hypoplasia of the zygomatic arches, and microtia. It is transmitted as an autosomal trait. The incomplete form (Treacher Collins syndrome) is characterized by the same anomalies in less pronounced degree. It occurs sporadically, but an autosomal dominant mode of transmission is suspected. (Dorland, 27th ed)" "" + "genetic syndromic Pierre Robin syndrome" "" + "genetic otorhinolaryngologic disease" "An instance of otorhinolaryngologic disease that is caused by a modification of the individual's genome." "" + "syndromic palpebral coloboma" "" + "eyelids malposition disorder" "" + "malposition of external canthus" "" + "syndrome with a symptomatic strabismus" "True" + "genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability" "An instance of multiple congenital anomalies/dysmorphic syndrome without intellectual disability that is caused by an inherited modification of the individual's genome." "" + "obsolete eyebrow/eyelashes distichiasis" "" "true" + "obsolete acute pancreatitis" "" "true" + "type IV hypersensitivity disease" "A disease that has its basis in the disruption of type IV hypersensitivity." "" + "membranoproliferative glomerulonephritis" "Inflammation of the glomeruli characterized by deposits at the intraglomerular mesangium, resulting in thickening of the glomerular basement membrane, activation of complement, and impaired kidney function secondary to damaged glomeruli." "" + "lacrimal gland carcinoma" "A carcinoma that arises from epithelial cells of the lacrimal gland." "" + "lacrimal gland cancer" "A malignant neoplasm involving the lacrimal gland." "" + "lacrimal gland neoplasm" "A neoplasm (disease) that involves the lacrimal gland." "" + "bronchiolitis" "Inflammation of the bronchioles characterized by swelling of the bronchioles and mucus accumulation. It is usually caused by the respiratory syncytial virus and affects children. Signs and symptoms include coughing, wheezing, and shortness of breath." "" + "disorder of ear" "A disease that involves the ear." "" + "hyperimmunoglobulin syndrome" "" + "lacrimal gland carcinoma ex pleomorphic adenoma" "A carcinoma arising in a pre-existing pleomorphic adenoma in the lacrimal gland." "" + "carcinoma ex pleomorphic adenoma" "A carcinoma arising in a pre-existing pleomorphic adenoma. It most often occurs in the parotid gland and less often in the submandibular gland and minor salivary gland. Patients usually present with a history of a long-standing mass which recently had undergone rapid growth. The prognosis depends on the invasiveness of the malignant component. Patients with non-invasive or minimally invasive tumors usually have a good prognosis following surgical resection. Invasive tumors are usually aggressive and are associated with recurrences and metastases." "" + "photosensitive trichothiodystrophy" "A trichothiodystrophy that is photosensitive, and caused by defects in the NER pathway" "" + "trichothiodystrophy" "Trichothiodystrophy or TTD is a heterogeneous group disorders characterized by short, brittle hair with low-sulphur content (due to an abnormal synthesis of the sulphur containing keratins)." "" + "DNA repair disease" "A disease that has its basis in the disruption of DNA repair." "" + "synovial bursa disorder" "A disease or disorder that involves the synovial bursa." "" + "malignant mixed neoplasm" "A malignant neoplasm composed of a carcinomatous epithelial component and a sarcomatous mesenchymal component. Representative examples include malignant mixed mesodermal (Mullerian) tumor of the female reproductive system and carcinosarcoma of the salivary gland and the lung." "" + "cystic kidney disease" "A congenital or acquired kidney disorder characterized by the presence of renal cysts." "" + "primary hyperoxaluria" "A hereditary disorder characterized by excessive oxalate production, leading to hyperoxaluria." "" + "disorder of glyoxylate metabolism" "" + "lacrimal gland adenocarcinoma" "A carcinoma that arises from glandular epithelial cells of the lacrimal gland" "" + "anuria" "Absence of urine output." "" + "prostate neuroendocrine neoplasm" "A neoplasm with neuroendocrine differentiation that arises from the prostate gland. This category includes carcinoid tumors and small cell carcinomas." "" + "mixed germ cell-sex cord-stromal tumor" "A biphasic neoplasm that arises from the ovary or the testis. It is characterized by the presence of neoplastic germ cells and neoplastic sex cord-stromal cells. It includes the gonadoblastoma and mixed germ cell-sex cord stromal tumor, unclassifiable." "" + "endometrioid tumor" "A benign, borderline, or malignant epithelial tumor of the female reproductive system characterized by the presence of glands and/or cysts lined by neoplastic cells that resemble endometrial cells." "" + "nipple neoplasm" "A benign or malignant neoplasm that arises in the area of the nipple." "" + "obsolete breast ductal carcinoma" "" "true" + "breast neuroendocrine neoplasm" "A neoplasm that arises from the breast and is composed of cells of neuroendocrine origin. Most cases are neuroendocrine carcinomas. Primary carcinoid tumors of the breast are very rare." "" + "lobular neoplasia" "A spectrum of non-invasive neoplastic lesions that arise from the terminal ductal lobular units of the breast. There is atypical small epithelial cell proliferation. Pagetoid involvement of the terminal ducts may or may not be present. In the minority of cases, there is a risk for subsequent development of invasive ductal or invasive lobular carcinoma." "" + "breast carcinoma in situ" "A in situ carcinoma that involves the breast." "" + "breast granular cell tumor" "A usually benign neoplasm that arises from the breast. It presents as a single, firm, and painless mass. It is characterized by the presence of neoplastic cells with eosinophilic granular cytoplasm." "" + "malignant breast phyllodes tumor" "A phyllodes tumor of the breast characterized by infiltrative margins and a sarcomatous stromal component. The sarcomatous stroma usually displays features of fibrosarcoma. Liposarcomatous, osteosarcomatous, or rhabdomyosarcomatous elements may also be present." "" + "breast phyllodes tumor" "A benign, malignant, or borderline circumscribed biphasic neoplasm that arises from the breast. It usually affects middle-aged women. It is characterized by the presence of a double layer of epithelial cells that are arranged in clefts, surrounded by a spindle cell mesenchymal (stromal) component." "" + "breast sarcoma" "A malignant mesenchymal neoplasm that arises from the breast. Representative examples include angiosarcoma, liposarcoma, leiomyosarcoma, rhabdomyosarcoma, and extraskeletal osteosarcoma." "" + "substance-related disorder" "A category of psychiatric disorders which include disorders related to the taking of a drug of abuse (including alcohol, prescribed medications and recreational drugs)." "" + "prostatic acinar adenocarcinoma" "An invasive adenocarcinoma of the prostate gland composed of secretory cells. It is the most common histologic type of prostate adenocarcinoma. Several morphologic variants exist, including atrophic, pseudohyperplastic, foamy gland, and oncocytic variants." "" + "acinar cell carcinoma" "A carcinoma that arises from epithelial cells of the acinar cell" "" + "prostate adenocarcinoma" "A carcinoma that arises from glandular epithelial cells of the prostate gland" "" + "colon signet ring cell adenocarcinoma" "An invasive adenocarcinoma of the colon characterized by the presence of malignant glandular epithelial cells which contain prominent intracytoplasmic mucin (signet ring cells). The signet ring cells constitute more than 50% of the malignant cells." "" + "signet ring cell carcinoma" "A usually aggressive, poorly differentiated invasive adenocarcinoma characterized by the presence of malignant glandular cells in which the nucleus is pressed to one side by the presence of intracytoplasmic mucus. It may arise from the stomach, small and large intestine, ampulla of Vater, appendix, gallbladder, pancreas, lung, bladder, breast, and prostate gland." "" + "colorectal signet ring cell carcinoma" "An invasive colorectal adenocarcinoma characterized by the presence of malignant glandular epithelial cells with prominent intracytoplasmic mucin resulting in the displacement of the nuclei. The malignant glandular cells with intracytoplasmic mucin constitute more than 50% of the malignant cellular infiltrate." "" + "submucosal invasive colon adenocarcinoma" "An adenocarcinoma of the colon that has invaded into the submucosa." "" + "invasive carcinoma" "A carcinoma that is not confined to the epithelium, and has spread to the surrounding stroma." "" + "obsolete food allergy" "Gastrointestinal disturbances, skin eruptions, or shock due to allergic reactions to allergens in food." "" "true" + "obsolete glioblastoma multiforme" "" "true" + "obsolete astrocytoma" "" "true" + "obsolete gliosarcoma" "" "true" + "brain glioblastoma" "A WHO grade IV malignant astrocytic tumor that arises from the brain, usually the cerebral hemispheres. It is characterized by the presence of poorly differentiated astrocytes, cellular polymorphism, nuclear atypia, and increased mitotic activity. The prognosis is poor." "" + "brain glioma" "A malignant glioma that involves the brain." "" + "obsolete giant cell glioblastoma" "" "true" + "adult astrocytic tumour" "An astrocytic tumor occurring during adulthood. Representative examples include diffuse astrocytoma, anaplastic astrocytoma, and glioblastoma." "" + "astrocytic tumor" "A glial tumor of the brain or spinal cord showing astrocytic differentiation. It includes the following clinicopathological entities: pilocytic astrocytoma, diffuse astrocytoma, anaplastic astrocytoma, pleomorphic xanthoastrocytoma, subependymal giant cell astrocytoma, and glioblastoma." "" + "obsolete grade III astrocytoma" "" "true" + "childhood astrocytic tumor" "An astrocytic tumor appearing before the age of twenty one without designation of benign or malignant nor designated location." "" + "childhood neoplasm" "A benign or malignant neoplasm arising during childhood." "" + "astrocytoma (excluding glioblastoma)" "A tumor of the brain or spinal cord showing astrocytic differentiation. It includes the following clinicopathological entities: pilocytic astrocytoma, diffuse astrocytoma, anaplastic astrocytoma, pleomorphic xanthoastrocytoma, and subependymal giant cell astrocytoma." "" + "obsolete early myoclonic encephalopathy" "" "true" + "gingival overgrowth" "Excessive growth of the gingiva either by an increase in the size of the constituent cells (gingival hypertrophy) or by an increase in their number (gingival hyperplasia). (From Jablonski's Dictionary of Dentistry, 1992, p574)" "" + "gingivitis" "A disorder involving inflammation of the gums; may affect surrounding and supporting structures of the teeth." "" + "stomatitis" "Inflammation of the oral mucosa due to local or systemic factors." "" + "non-specific granulomatous orchitis" "Granulomatous inflammation of the testis. It is characterized by the formation of granulomas around the seminiferous tubules. History of trauma may be present. It is assumed to be a reactive process due to autoimmune phenomena." "" + "orchitis" "Inflammation of one or both testes due to viral or bacterial infections. Signs and symptoms include enlargement or tenderness of the affected testis, inguinal lymphadenopathy, blood in the semen, and pain during urination, intercourse, or ejaculation." "" + "obsolete germ cell and embryonal cancer" "Neoplasms composed of primordial germ cells of embryonic gonads or of elements of the germ layers of the embryo, mammalian. The concept does not refer to neoplasms located in the gonads or present in an embryo or fetus." "" "true" + "stenosis of lacrimal sac" "" + "papillary adenocarcinoma" "A morphologic variant of adenocarcinoma. It is characterized by the presence of a papillary growth pattern. Representative examples include thyroid gland papillary carcinoma, invasive papillary breast carcinoma, and ovarian serous surface papillary adenocarcinoma." "" + "papillary carcinoma" "A malignant epithelial neoplasm characterized by a papillary growth pattern. A papillary carcinoma may be composed of glandular cells (papillary adenocarcinoma), squamous cells (papillary squamous cell carcinoma), or transitional cells (papillary transitional cell carcinoma). Bladder carcinoma is a representative example of papillary transitional cell carcinoma." "" + "hepatobiliary neoplasm" "A benign or malignant neoplasm that affects the liver parenchyma, bile ducts, and gallbladder. Representative examples of benign neoplasms include hepatocellular adenoma, bile duct adenoma, and gallbladder lipoma. Representative examples of malignant neoplasms include hepatocellular carcinoma, intrahepatic and extrahepatic cholangiocarcinoma, and gallbladder carcinoma." "" + "hepatobiliary disorder" "A non-neoplastic or neoplastic disorder that affects the liver, bile ducts, and gallbladder. Representative examples of non-neoplastic disorders include hepatitis, cirrhosis, cholangitis, and cholecystitis. Representative examples of neoplastic disorders include hepatocellular adenoma, hepatocellular carcinoma, and cholangiocarcinoma." "" + "tenosynovitis of foot and ankle" "" + "gallbladder papillary neoplasm" "A non-invasive, papillary epithelial neoplasm that arises from the epithelium of the gallbladder. Intraepithelial neoplasia is present." "" + "gallbladder neoplasm" "A neoplasm (disease) that involves the gall bladder." "" + "porphyria" "Porphyria is a group of diseases in which substances called porphyrins build up, negatively affecting the skin or nervous system. Most types are inherited, but porphyria cutanea tarda may also be due to increased iron in the liver, hepatitis C, alcohol, or HIV/AIDS." "" + "obsolete rare hereditary metabolic disease with peripheral neuropathy" "True" "true" + "obsolete multiple symmetrical lipomatosis" "" "true" + "tendon sheath disorder" "A disease that involves the tendon sheath." "" + "pigmented villonodular synovitis" "Pigmented villonodular synovitis (PVNS) is a rare benign proliferative disorder of the synovial membrane primarily affecting young adults (with a peak age of onset in the second to fourth decade of life) characterized by proliferative, locally invasive tumor-like lesions, usually involving a single joint, tendon sheath or bursae (most commonly the joints of the knee and hip and rarely others such as the ankle, shoulder and temporomandibular joints). It presents with pain and limitation of motion along with swelling, heat and tenderness over the involved joint, eventually leading to arthritic degeneration and significant locomotor deficit, if left untreated. PVNS can recur in patients even after treatment." "" + "cutaneous mucinosis" "The mucinoses are a diverse group of disorders which have in common the deposition of basophilic, finely granular and stringy material (mucin) in the connective tissues of the dermis (dermal mucinoses), in the pilosebaceous follicles (follicular mucinoses), or in the epidermis and tumors derived therefrom (epithelial mucinoses)." "" + "obsolete hyperlipoproteinemia type III" "" "true" + "dermal unilateral segmental cavernous angioma" "" + "keratoacanthoma" "A dome-shaped, rapidly growing skin lesion composed of well differentiated squamous cells. It represents a proliferation of the infundibular epithelium of the hair follicle and its morphologic distinction from a well differentiated carcinoma may be difficult or impossible. Keratoacanthomas affect males more frequently than females and the majority tend to regress spontaneously. It has been suggested that keratoacanthoma represents a distinct subtype of squamous cell carcinoma of the skin." "" + "soft tissue neoplasm" "A benign, intermediate, or malignant neoplasm that arises from the soft tissue. The most common types are lipomatous (fatty), vascular, smooth muscle, fibrous, and fibrohistiocytic neoplasms." "" + "obsolete malignant spindle cell melanoma" "" "true" + "papillary adenoma" "An adenoma characterized by the presence of papillary epithelial patterns." "" + "fallopian tube papilloma" "A benign epithelial neoplasm that arises from the fallopian tube. It is characterized by the presence of fibrovascular stalks lined by serous epithelial cells." "" + "verrucous papilloma" "A benign epithelial neoplasm characterized by a papillary growth pattern, lack of significant cytologic atypia, and a wart-like appearance." "" + "skin papilloma" "A benign papillary neoplastic growth on the skin composed of epithelial cells and a fibrous stalk. It usually develops in the eyelid, axilla, neck, upper chest, and groin." "" + "inverted papilloma" "An endophytic benign papillary epithelial neoplasm that results from the invagination and proliferation of epithelial cells in the underlying stroma. Representative examples are the inverted urothelial papilloma that arises from the urinary tract and inverted Schneiderian papilloma that arises from the nasal cavity or paranasal sinuses." "" + "obsolete progressive muscular atrophy" "" "true" + "obsolete oligodendroglioma" "" "true" + "childhood oligodendroglioma" "An oligodendroglioma that arises from the central nervous system and occurs during childhood." "" + "childhood malignant neoplasm" "A malignant tumor that occurs in children. Representative examples include soft tissue and bone sarcomas (e.g. osteosarcoma) and embryonal neoplasms (e.g. hepatoblastoma and rhabdoid tumor)." "" + "spinal cord oligodendroglioma" "A oligodendroglioma that involves the spinal cord." "" + "spinal cord glioma" "A neoplasm that arises from glial cells in the spinal cord. Representative examples include astrocytoma, oligodendroglioma, and ependymoma." "" + "malignant glioma" "A grade III or grade IV glioma arising from the central nervous system. This category includes glioblastoma, anaplastic astrocytoma, anaplastic ependymoma, anaplastic oligodendroglioma, and anaplastic oligoastrocytoma." "" + "adult oligodendroglioma" "An oligodendroglioma occurring during adulthood." "" + "spinal cord disorder" "A disease involving the spinal cord." "" + "benign peripheral nerve sheath tumor" "" + "low grade glioma" "A grade I or grade II glioma arising from the central nervous system. This category includes pilocytic astrocytoma, diffuse astrocytoma, subependymal giant cell astrocytoma, ependymoma, oligodendroglioma, oligoastrocytoma, and angiocentric glioma." "" + "cellular schwannoma" "A morphologic variant of schwannoma characterized by hypercellularity, Antoni A pattern, and the absence of well-formed Verocay bodies." "" + "schwannoma of twelfth cranial nerve" "A schwannoma that involves the hypoglossal nerve." "" + "hypoglossal nerve neoplasm" "A neoplasm involving a hypoglossal nerve." "" + "c-P angle neurinoma" "" + "cerebellopontine angle tumor" "A neoplasm that affects the cerebellopontine angle. Representative examples include vestibular schwannoma and meningioma." "" + "vascular myelopathy" "" + "sympathetic neurilemmoma" "A benign tumor derived from schwann cells of the peripheral sympathetic nervous system, including the sympathetic plexus." "" + "trigeminal schwannoma" "A schwannoma that involves the trigeminal nerve." "" + "microcystic/reticular schwannoma" "The rarest histopathologic subtype of Schwannoma. The reported cases have been located in the gastrointestinal submucosa or subcutaneous tissue. Morphologically it is characterized by the presence of a microcyst-rich network of spindle cells with minimal amount of cytoplasm and Antoni A tissue." "" + "obsolete schwannomatosis" "" "true" + "melanotic neurilemmoma" "A rare circumscribed, non-encapsulated and grossly pigmented nerve sheath tumor. It is composed of cells with the immunophenotypic and electron microscopic features of Schwann cells which contain melanosomes and are positive for melanoma markers. It usually involves spinal nerve roots but may occur in other locations. It may be associated with PRKAR1A gene mutation and Carney complex. Malignant behavior has been reported in a significant number of patients." "" + "plexiform schwannoma" "A schwannoma characterized by a plexiform or multinodular growth pattern. It usually arises from the skin or subcutaneous tissues in the extremities, trunk, and head and neck." "" + "obsolete junctional epidermolysis bullosa" "" "true" + "lysosomal storage disease" "A metabolic disorder caused by mutations in proteins critical for lysosomal function, including lysosomal enzymes, lysosomal integral membrane proteins, and proteins involved in the post-translational modification and trafficking of lysosomal proteins." "" + "demyelinating disease" "A broad group of disorders that affect the myelin sheaths that cover the neurons. Myelin sheathes cover neuronal axons in the central and peripheral nervous system and function to increase travelling impulse speeds. Disruption of this sheath impairs neuronal transmission and can result in disorders such as multiple sclerosis and Guillain-Barre syndrome, among others." "" + "jejunal somatostatinoma" "A somatostatin-producing neuroendocrine tumor that arises from the jejunum. It is characterized by the presence of tubulo-glandular structures." "" + "jejunal neuroendocrine tumor, well differentiated, low or intermediate grade" "A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the jejunum." "" + "jejunal neoplasm" "A benign or malignant neoplasm that affects the wall of the jejunum. Representative examples include adenoma, carcinoma, and lymphoma." "" + "myelitis" "An inflammatory process affecting the spinal cord. Causes include viral infections, autoimmune disorders, vascular disorders, and toxic agents. Symptoms include weakness, paresthesia, sensory loss, pain, and incontinence." "" + "encephalomyelitis" "Inflammation of the brain and the spinal cord." "" + "obsolete complex regional pain syndrome" "" "true" + "tracheal stenosis" "Narrowing of the lumen of the trachea." "" + "gastric dilatation" "Abnormal distention of the stomach due to accumulation of gastric contents that may reach 10 to 15 liters. Gastric dilatation may be the result of gastric outlet obstruction; ileus; gastroparesis; or denervation." "" + "high pressure neurological syndrome" "A syndrome related to increased atmospheric pressure and characterized by tremors, nausea, dizziness, decreased motor and mental performance, and seizures. This condition may occur in those who dive deeply (c. 1000 ft) usually while breathing a mixture of oxygen and helium. The condition is associated with a neuroexcitatory effect of helium." "" + "neoplasm of mature B-cells" "A neoplasm of follicle centre B cells which has at least a partial follicular pattern. Follicular lymphomas comprise about 35% of adult non-Hodgkin lymphomas in the U.S. and 22% worldwide. Most patients have widespread disease at diagnosis. Morphologically, follicular lymphomas are classified as Grade 1, Grade 2, and Grade 3, depending on the percentage of the large lymphocytes present. The vast majority of cases (70-95%) express the BCL-2 rearrangement [t(14;18)]. Histological grade correlates with prognosis. Grades 1 and 2 follicular lymphomas are indolent and grade 3 is more aggressive (adapted from WHO, 2001)." "" + "primary organ-specific lymphoma" "" + "Epstein-Barr virus-associated malignant lymphoproliferative disorder" "" + "aspiration pneumonitis" "Inflammation of the lungs due to the inhalation of solid or liquid material." "" + "pneumonitis" "An inflammatory process affecting the lung parenchyma. It is a milder form of lung inflammation compared to pneumonia." "" + "obsolete pleomorphic rhabdomyosarcoma" "" "true" + "prostate embryonal rhabdomyosarcoma" "A malignant mesenchymal neoplasm of the prostate. It is characterized by the presence of skeletal muscle exhibiting embryonic features." "" + "prostate rhabdomyosarcoma" "A malignant mesenchymal neoplasm with skeletal muscle differentiation affecting the prostate." "" + "obsolete prostate rhabdomyosarcoma" "" "true" + "embryonal extrahepatic bile duct rhabdomyosarcoma" "An embryonal rhabdomyosarcoma that arises from the extrahepatic bile ducts." "" + "extrahepatic bile duct rhabdomyosarcoma" "A malignant mesenchymal tumor with skeletal muscle differentiation, arising from the extrahepatic bile ducts." "" + "rhabdomyosarcoma" "A rare aggressive malignant mesenchymal neoplasm arising from skeletal muscle. It usually occurs in children and young adults. Only a small percentage of tumors arise in the skeletal muscle of the extremities. The majority arise in other anatomical sites." "" + "liver rhabdomyosarcoma" "A malignant mesenchymal tumor with skeletal muscle differentiation affecting the liver." "" + "extrahepatic bile duct sarcoma" "A malignant soft tissue neoplasm that arises from the extrahepatic bile ducts. Representative examples include Kaposi sarcoma, leiomyosarcoma, and rhabdomyosarcoma." "" + "botryoid rhabdomyosarcoma" "A morphologic variant of embryonal rhabdomyosarcoma arising from organs with a mucosal epithelial surface. It is characterized by the formation of a cambium layer in the affected tissue and polypoid nodules within an abundant myxoid stroma." "" + "orbit embryonal rhabdomyosarcoma" "A malignant mesenchymal neoplasm that arises from the orbit. It is characterized by the presence of skeletal muscle tissue exhibiting embryonic features." "" + "orbit rhabdomyosarcoma" "A malignant mesenchymal neoplasm with skeletal muscle differentiation that arises from the orbit." "" + "orbit sarcoma" "A malignant soft tissue neoplasm that arises from the structures of the orbit. The majority of the cases are rhabdomyosarcomas." "" + "spindle cell rhabdomyosarcoma" "An uncommon variant of rhabdomyosarcoma characterized by the presence of whorls of spindle cells forming a storiform pattern. In children it usually arises in the paratesticular region. In adults it usually arises from the deep soft tissues in the head and neck." "" + "spindle cell sarcoma" "A malignant mesenchymal neoplasm composed of spindle-shaped cells. This is a morphologic term which can be applied to a wide range of sarcomas." "" + "subacute leukemia" "A leukemia that is in between acute and chronic leukemia and is characterized by a moderate duration or severity." "" + "mucinous ovarian cystadenoma" "A benign neoplasm of the ovary characterized by the presence of cystic structures lined by mucinous columnar epithelial cells." "" + "mucinous cystadenoma" "A benign or low malignant potential cystic epithelial neoplasm composed of cells which contain intracytoplasmic mucin. It may arise from the ovary, pancreas, appendix, and lung." "" + "ovarian cystadenoma" "A benign ovarian surface epithelial-stromal tumor characterized by the presence of cystic structures lined by serous epithelial cells, mucinous columnar epithelial cells, or endometrial-type well-differentiated cells." "" + "obsolete syringomyelia" "" "true" + "breast fibrocystic change, proliferative type" "Breast fibrocystic change characterized by the presence of epithelial cell hyperplasia. Epithelial atypia may be present or absent." "" + "breast fibrocystic disease" "Fibrosis associated with cyst formation in the breast parenchyma." "" + "thymus neoplasm" "A neoplasm that affects the thymus. Representative examples include thymoma and carcinoma." "" + "encapsulated thymoma" "A thymoma that is confined within the capsule and may display benign or malignant morphologic characteristics." "" + "thymoma" "A neoplasm arising from the epithelial cells of the thymus. Although thymomas are usually encapsulated tumors, they may invade the capsule and infiltrate the surrounding tissues or even metastasize to distant anatomic sites. The following morphologic subtypes are currently recognized: type A, type B, type AB, metaplastic, micronodular, microscopic, and sclerosing thymoma. Thymomas type B are further subdivided into types B1, B2, and B3. Thymoma type B3 usually has the most aggressive clinical course." "" + "thymoma type A" "A thymic epithelial neoplasm characterized by the presence of spindle and/or oval neoplastic epithelial cells. Lymphocytic infiltration is minimal or absent. It may be associated with myasthenia gravis or pure red cell aplasia. The majority of cases occur in the anterior mediastinum as Masaoka stage I tumors. Approximately 20% of the cases occur as stage II or stage III tumors. Type A thymoma generally behaves as a benign tumor and the overall survival is reported to be 100% at 5 and 10 years." "" + "obsolete thymoma type AB" "" "true" + "combined thymoma" "" + "obsolete dendritic cell thymoma" "" "true" + "invasive malignant thymoma" "A malignant thymoma that extends beyond the capsule and infiltrates the surrounding tissues." "" + "thymic carcinoma" "Thymic carcinoma (TC) is a type of thymic epithelial neoplasm characterized by a high malignant potential." "" + "obsolete thymic carcinoma" "" "true" + "monkeypox" "An infection that is caused by an Orthopoxvirus, which is transmitted by primates or rodents, and which is characterized by a prodromal syndrome of fever, chills, headache, myalgia, and lymphedema; initial symptoms are followed by a generalized papular rash that typically progresses from vesiculation through crusting over the course of two weeks." "" + "vaccinia" "The cutaneous and occasional systemic reactions associated with vaccination using smallpox (variola) vaccine." "" + "obsolete chordoma" "" "true" + "notochordal tumor" "A bone tumor arising from the remnants of the fetal notochord. This category includes the chordoma and benign notochordal cell tumor." "" + "embryonal neoplasm" "A usually malignant neoplasm composed of primitive (immature) tissues that resemble fetal tissues. Medulloblastoma, Ependymoblastoma, Pineoblastoma, and Wilms tumor are representative embryonal neoplasms. --2003" "" + "germinomatous germ cell tumor" "A term that refers to germinoma, seminoma, or dysgerminoma." "" + "teratocarcinoma" "A germ cell tumor characterized by the presence of an embryonal carcinoma component and a teratoma component." "" + "obsolete mixed germ cell cancer" "" "true" + "nongerminomatous germ cell tumor" "A term that refers to teratoma, embryonal carcinoma, yolk sac tumor, choriocarcinoma, or mixed forms of these tumors." "" + "angiomyolipoma" "A neoplasm with perivascular epithelioid cell differentiation often associated with tuberous sclerosis. It is characterized by a mixture of epithelioid cells, smooth muscle, vessels, and mature adipose tissue. The kidney is the most common site of involvement. Other sites of involvement include the liver, lung, lymph nodes, and retroperitoneum. The vast majority of cases follow a benign clinical course. However, cases of metastatic angiomyolipomas with sarcomatoid features have been described." "" + "neoplasm with perivascular epithelioid cell differentiation" "A soft tissue neoplasm composed of perivascular epithelioid cells. Representative examples include angiomyolipoma, clear cell-sugar-tumor of the lung, and lymphangioleiomyomatosis." "" + "pericytic neoplasm" "A benign or malignant mesenchymal neoplasm arising from the perivascular cells of the connective and soft tissues. It is characterized by the presence of pericytes that grow in a circumferential pattern around vessels." "" + "mesenchymal cell neoplasm" "A benign, intermediate, or malignant neoplasm that arises from the mesenchyma-derived cells of the soft tissue or bone. Representative examples include lipoma, leiomyoma, leiomyosarcoma and osteosarcoma." "" + "hepatic angiomyolipoma" "An angiomyolipoma arising from the liver." "" + "epithelioid type angiomyolipoma" "An angiomyolipoma composed exclusively or predominantly by polygonal epithelioid cells with eosinophilic cytoplasm, often associated with cytologic atypia." "" + "obsolete lymphangioleiomyomatosis" "" "true" + "obsolete gangliosidosis GM2" "" "true" + "obsolete gangliosidosis GM1" "" "true" + "obsolete benign epilepsy with centrotemporal spikes" "" "true" + "partial epilepsy" "A seizure caused by a localized disorder." "" + "histrionic personality disorder" "A disorder characterized by an enduring pattern of excessively intense and superficial emotionality, attention seeking behavior, seductive appearance and speech, self dramatization and/or theatrical behavior." "" + "xanthomatosis" "A condition marked by the development of widespread xanthomas, yellow tumor-like structures filled with lipid deposits. Xanthomas can be found in a variety of tissues including the skin; tendons; joints of knees and elbows. Xanthomatosis is associated with disturbance of lipid metabolism and formation of foam cells." "" + "xanthoma" "A non-neoplastic disorder characterized by a localized collection of histiocytes containing lipid. Xanthomas usually occur in the skin and subcutaneous tissues, but occasionally they may involve the deep soft tissues." "" + "bone angiosarcoma" "A high-grade malignant vascular neoplasm that arises from the bone. It is characterized by the presence of neoplastic cells with endothelial differentiation." "" + "vascular bone neoplasm" "A benign, intermediate, or malignant vascular neoplasm that arises from the bone." "" + "osteosarcoma" "A usually aggressive malignant bone-forming mesenchymal neoplasm, predominantly affecting adolescents and young adults. It usually involves bones and less frequently extraosseous sites. It often involves the long bones (particularly distal femur, proximal tibia, and proximal humerus). Pain with or without a palpable mass is the most frequent clinical symptom. It may spread to other anatomic sites, particularly the lungs." "" + "undifferentiated high grade pleomorphic sarcoma of bone" "A rare, high-grade pleomorphic malignant neoplasm arising from the bone. It usually presents with pain which may or may not be associated with swelling in the affected area. It is characterized by the presence of spindle-shaped cells, polygonal or epithelioid cells, multinucleated giant cells, and inflammatory cells. The neoplastic cells exhibit nuclear pleomorphism and high mitotic activity. It metastasizes frequently, most often in the lungs." "" + "bone fibrosarcoma" "A usually aggressive malignant neoplasm arising from the bone. It is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation in a herringbone growth pattern." "" + "fibrosarcoma" "A malignant mesenchymal fibroblastic neoplasm affecting the soft tissue and bone." "" + "localized osteosarcoma" "A non-disseminated osteosarcoma." "" + "extraosseous osteosarcoma" "An osteosarcoma arising from the soft tissue." "" + "multifocal osteogenic sarcoma" "A primary bone osteosarcoma affecting multiple bone sites." "" + "pediatric osteosarcoma" "An osteosarcoma occurring in childhood." "" + "bone leiomyosarcoma" "A rare aggressive malignant smooth muscle neoplasm, arising from the bone. It is characterized by a proliferation of neoplastic spindle cells." "" + "Ewing sarcoma of bone" "A small round cell bone tumor that lacks morphologic, immunohistochemical, and electron microscopic evidence of neuroectodermal differentiation. It represents one of the two ends of the spectrum called Ewing sarcoma/peripheral neuroectodermal tumor. It often affects the diaphysis or metaphyseal-diaphyseal portion of long bones. Clinical findings include pain and a mass in the involved area. fever, anemia, leukocytosis, and an increased sedimentation rate are often seen. X-ray examination reveals osteolytic lesions. The prognosis depends on the stage, anatomic location, and size of the tumor." "" + "Ewing sarcoma" "A small round cell tumor that lacks morphologic, immunohistochemical, and electron microscopic evidence of neuroectodermal differentiation. It represents one of the two ends of the spectrum called Ewing sarcoma/peripheral neuroectodermal tumor. It affects mostly males under age 20, and it can occur in soft tissue or bone. Pain and the presence of a mass are the most common clinical symptoms." "" + "Ewing sarcoma/peripheral primitive neuroectodermal tumor of bone" "A spectrum of malignant tumors arising from the bone and characterized morphologically by the presence of small round cells. Ewing sarcoma and peripheral primitive neuroectodermal tumor represent the ends of a spectrum, with Ewing sarcoma lacking evidence of neural differentiation and the markers that characterize the peripheral primitive neuroectodermal tumor. Ewing sarcoma and peripheral primitive neuroectodermal tumor may share cytogenetic abnormalities, proto-oncogene expression, cell culture and immunohistochemical abnormalities. Pain and the presence of a mass are the most common clinical symptoms." "" + "spinal accessory nerve neoplasm" "A neoplasm involving a accessory XI nerve spinal component." "" + "accessory nerve disorder" "A disease involving the accessory XI nerve." "" + "chondroblastic osteosarcoma" "An osteosarcoma characterised by the presence of atypical cartilage of variable cellularity. It may or may not be associated with the presence of myxoid areas or focal bone formation." "" + "conventional osteosarcoma" "A high grade malignant bone-forming mesenchymal neoplasm producing osteoid. The tumor arises from the medullary portion of the bone. It affects the long bones and most commonly, the distal femur, proximal tibia, and proximal humerus. Pain with or without a palpable mass is the most common clinical presentation. It usually has an aggressive growth and may metastasize through the hematogenous route. The lung is the most frequent site of metastasis." "" + "peripheral osteosarcoma" "A usually aggressive malignant bone-forming mesenchymal neoplasm arising from the surface of the bone." "" + "bone osteosarcoma" "A usually aggressive malignant bone-forming mesenchymal neoplasm arising from the bone. It may arise de novo or from a pre-existing lesion of the bone. Pain and a palpable mass are the most frequent clinical sign and symptom. It may spread to other anatomic sites, particularly the lungs." "" + "small cell osteogenic sarcoma" "An osteosarcoma usually arising from the metaphysis of long bones. It is characterized by the presence of small cells and osteoid production. The prognosis is usually unfavorable." "" + "small cell sarcoma" "A sarcoma characterized by the presence of small round or elongated malignant cells with a small amount of cytoplasm." "" + "metachronous osteosarcoma of the bone" "A bone osteosarcoma that has metastasized to skeletal or extraskeletal sites." "" + "head and neck neoplasm" "A benign or malignant neoplasm that affects the anatomic structures of the head and neck region. Representative examples of benign neoplasms include salivary gland pleomorphic adenoma and nasal cavity papilloma. Representative examples of malignant neoplasms include oral cavity squamous cell carcinoma, laryngeal squamous cell carcinoma, and salivary gland carcinoma." "" + "liposarcoma of bone" "A very rare malignant adipose tissue neoplasm that arises from the bone." "" + "liposarcoma" "A usually painless malignant tumor that arises from adipose tissue. Microscopically, it may contain a spectrum of neoplastic adipocytes ranging from lipoblasts to pleomorphic malignant adipocytes. Morphologic variants include: well differentiated, dedifferentiated, pleomorphic, and myxoid liposarcoma. The metastatic potential is higher in less differentiated tumors." "" + "histiocytosis" "A morphologic finding indicating tissue infiltration by non-neoplastic or neoplastic histiocytes." "" + "optic nerve neoplasm" "Benign and malignant neoplasms which arise from or metastasize to the optic or second cranial nerve which extends from the optic disc of the eye and joins the optic chiasm. Clinical features may include visual loss, proptosis, and local pain. The majority of optic nerve tumors or optic gliomas." "" + "subclavian artery aneurysm" "A subclavian aneurysm is weakness or bulging in the wall of the subclavian artery, which is located below the collarbone. If the aneurysm ruptures, it can cause life-threatening, uncontrolled bleeding. Blood clots caused by the aneurysm can potentially lead to stroke or loss of fingers, the hand or, in rare cases, the entire arm." "" + "trochlear nerve neoplasm" "A neoplasm involving a trochlear nerve." "" + "vestibular disorder" "Pathological processes of the vestibular labyrinth which contains part of the balancing apparatus. Patients with vestibular diseases show instability and are at risk of frequent falls." "" + "idiopathic granulomatous myositis" "" + "myositis" "An inflammatory disease involving a pathogenic inflammatory response in the muscle tissue." "" + "cerebritis" "Inflammation of the cerebrum." "" + "brain inflammatory disease" "An inflammatory disease involving a pathogenic inflammatory response in the brain." "" + "viral laryngitis" "Acute inflammation of the larynx caused by viruses, including rhinovirus, influenza virus, parainfluenza virus, and adenovirus." "" + "acute laryngitis" "An acute inflammatory process affecting the larynx. It is caused by bacteria, viruses, or vocal strain. Signs and symptoms include sore throat, cough, swallowing difficulties, and hoarseness." "" + "mammary Paget disease" "A malignant neoplasm in which there is infiltration of the skin overlying the breast by neoplastic large cells with abundant pale cytoplasm and large nuclei with prominent nucleoli (Paget cells). It is almost always associated with an intraductal or invasive ductal carcinoma of the breast. The clinical features include focal skin reddening, and eczema. Retraction of the nipple may sometimes occur." "" + "scrotum Paget disease" "A mammary Paget's disease that involves the scrotum." "" + "scrotum cancer" "A primary or metastatic malignant neoplasm affecting the scrotum." "" + "anal Paget disease" "A slowly spreading, erythematous eczematoid plaque in the anal region. Histologically, the basal part or whole thickness of the squamous epithelium is infiltrated by large cells with abundant pale cytoplasm and large nuclei. Half of the cases are associated with an internal malignancy, most often a colorectal adenocarcinoma. The other half of the cases, have a high local recurrence rate and they may become invasive (WHO)." "" + "anus adenocarcinoma" "An adenocarcinoma arising in the anal canal epithelium, including the mucosal surface, the anal glands, and the lining of fistulous tracts. The prognosis is related to the stage at diagnosis." "" + "anal carcinoma" "A carcinoma that arises from epithelial cells of the anus" "" + "Paget disease of the penis" "A premalignant condition morphologically characterised by the presence of the characteristic Paget cells in the intraepithelial tissue of the penis. It presents as a smooth raised reddish area that may or may not be painful. -- 2003" "" + "adenocarcinoma of penis" "A adenocarcinoma that involves the penis." "" + "cutaneous Paget disease" "A skin carcinoma that is characterized by infiltration of the skin by neoplastic large cells with abundant pale cytoplasm and large nuclei with prominent nucleoli." "" + "iris cancer" "A malignant neoplasm involving the iris." "" + "uveal cancer" "A primary or metastatic malignant neoplasm that affects the choroid, ciliary body, or iris." "" + "iris neoplasm" "A neoplasm (disease) that involves the iris." "" + "uvea neoplasm" "A neoplasm (disease) that involves the uvea." "" + "blepharochalasis" "An eyelid disease that is characterized by exacerbations and remissions of eyelid edema, which results in a stretching and subsequent atrophy of the eyelid tissue, leading to the formation of redundant folds over the lid margins." "" + "obsolete plague" "" "true" + "obsolete systemic mastocytosis" "" "true" + "extrahepatic bile duct signet ring cell carcinoma" "An adenocarcinoma that arises from the extrahepatic bile ducts. It is characterized by the presence of signet ring malignant epithelial cells." "" + "extrahepatic bile duct adenocarcinoma" "A carcinoma that arises from glandular epithelial cells of the extrahepatic bile duct" "" + "extrahepatic bile duct carcinoma" "A carcinoma that arises from epithelial cells of the extrahepatic bile duct." "" + "bile duct adenocarcinoma" "A carcinoma that arises from glandular epithelial cells of the bile duct" "" + "pancreatic signet ring cell adenocarcinoma" "A rare pancreatic ductal adenocarcinoma with poor prognosis. It is characterized by the presence of malignant signet ring cells infiltrating the pancreatic parenchyma in an individual cell pattern." "" + "pancreatic ductal adenocarcinoma" "An infiltrating adenocarcinoma that arises from the epithelial cells of the pancreas. It affects males more often than females and the patients are usually over 50 years of age. Microscopically it is characterized by the presence of glandular (ductal) differentiation and desmoplastic stroma formation. Signs and symptoms include pain, loss of weight, and jaundice. It grows rapidly and is usually detected after it has metastasized to other anatomic sites. The prognosis is usually poor." "" + "gallbladder signet ring cell adenocarcinoma" "An adenocarcinoma that arises from the gallbladder. It is characterized by the presence of signet ring malignant epithelial cells." "" + "gallbladder adenocarcinoma" "A carcinoma that arises from glandular epithelial cells of the gall bladder." "" + "obsolete gallbladder adenocarcinoma" "" "true" + "ampullary signet ring cell adenocarcinoma" "An adenocarcinoma arising from the ampulla of Vater. Morphologically, it is characterized by the presence of mucin-containing signet-ring cells." "" + "ampulla of vater adenocarcinoma" "A carcinoma that arises from glandular epithelial cells of the hepatopancreatic ampulla" "" + "duodenal adenocarcinoma" "A carcinoma that arises from glandular epithelial cells of the duodenum." "" + "carcinoma of the ampulla of vater" "A carcinoma arising from the ampulla of Vater. The vast majority of cases are adenocarcinomas. Signs and symptoms include jaundice, abdominal pain, anorexia, nausea, vomiting, and weight loss." "" + "signet ring cell breast carcinoma" "An invasive breast adenocarcinoma characterized by the presence of malignant epithelial cells with signet ring appearance." "" + "invasive breast carcinoma" "A carcinoma that infiltrates the breast parenchyma. The vast majority are adenocarcinomas arising from the terminal ductal lobular unit (TDLU). Often, the invasive adenocarcinoma co-exists with ductal or lobular carcinoma in situ. It is the most common carcinoma affecting women." "" + "acinar prostate adenocarcinoma, signet ring variant" "A morphologic variant of acinar adenocarcinoma of the prostate gland characterized by the presence of signet ring malignant cells." "" + "obsolete dermatofibrosarcoma protuberans" "" "true" + "stricture or kinking of ureter" "" + "neurofibrosarcoma" "A malignant tumor that arises from small cutaneous nerves, is locally aggressive, and has a potential for metastasis. Characteristic histopathologic features include proliferating atypical spindle cells with slender wavy and pointed nuclei, hypocellular areas, and areas featuring organized whorls of fibroblastic proliferation. The most common primary sites are the extremities, retroperitoneum, and trunk. These tumors tend to present in childhood, often in association with neurofibromatosis 1. (From DeVita et al., Cancer: Principles & Practice of Oncology, 5th ed, p1662; Mayo Clin Proc 1990 Feb;65(2):164-72)" "" + "adult fibrosarcoma" "A malignant mesenchymal neoplasm composed of fibroblasts. It is characterized by collagen production and a herringbone architectural pattern. It is more commonly seen in middle-aged and older adults. It usually affects the deep soft tissues of extremities, trunk, head and neck. Adult fibrosarcomas may recur and metastasize to the lungs and bones." "" + "conventional fibrosarcoma" "A malignant mesenchymal neoplasm composed of fibroblasts, and characterized by collagen production and usually a herringbone architectural pattern." "" + "pediatric fibrosarcoma" "A malignant neoplasm arising from the deep soft tissues in children. It is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation in a herringbone growth pattern." "" + "cerebral infarction" "An ischemic condition of the brain, producing a persistent focal neurological deficit in the area of distribution of the cerebral arteries." "" + "brain infarction" "Tissue necrosis in any area of the brain, including the cerebral hemispheres, the cerebellum, and the brain stem. Brain infarction is the result of a cascade of events initiated by inadequate blood flow through the brain that is followed by hypoxia and hypoglycemia in brain tissue. Damage may be temporary, permanent, selective or pan-necrosis." "" + "chronic wasting disease" "A transmissible spongiform encephalopathy (prion disease) of deer and elk characterized by chronic weight loss leading to death. It is thought to spread by direct contact between animals or through environmental contamination with the prion protein (prions)." "" + "prion disease" "A transmissible disease that is caused by a protein that is able to induce abnormal folding of normal cellular proteins, leading to characteristic spongiform brain changes, which are associated with neuronal loss without an inflammatory response. Such disorders have typically long incubation periods, but are then generally rapidly progressive and are uniformly fatal." "" + "non-human animal disease" "A disease that occurs in animals." "" + "choroid plexus cancer" "A malignant neoplasm involving the choroid plexus" "" + "cerebral ventricle cancer" "A neoplasm that involves a brain ventricle. It may be a primary neoplasm arising from a brain ventricle, a metastasis from a distant anatomic site, or an extension of an invasive neoplasm from an adjacent brain structure." "" + "choroid plexus neoplasm" "An intraventricular papillary neoplasm that originates from the choroid plexus epithelium. It includes the choroid plexus papilloma, atypical choroid plexus papilloma, and choroid plexus carcinoma." "" + "adult choroid plexus neoplasm" "A choroid plexus neoplasm that occurs in an adult." "" + "atypical choroid plexus papilloma" "A choroid plexus papilloma characterized by increased mitotic activity." "" + "childhood choroid plexus carcinoma" "A choroid plexus carcinoma that occurs during childhood." "" + "choroid plexus carcinoma" "A malignant neoplasm arising from the choroid plexus. It shows anaplastic features and usually invades neighboring brain structures. Cerebrospinal fluid metastases are frequent. (Adapted from WHO)" "" + "childhood choroid plexus neoplasm" "A neoplasm that arises from the choroid plexus in the brain and occurs during childhood." "" + "obsolete mast-cell sarcoma" "" "true" + "superior mesenteric artery syndrome" "Superior mesenteric artery syndrome (SMAS) is a digestive condition that occurs when the duodenum (the first part of the small intestine) is compressed between two arteries (the aorta and the superior mesenteric artery). This compression causes partial or complete blockage of the duodenum. Symptoms vary based on severity, but can be severely debilitating. Symptoms may include abdominal pain, fullness, nausea, vomiting, and/or weight loss. SMAS typically is due toloss of the mesenteric fat pad (fatty tissue that surrounds the superior mesenteric artery). The most common cause is significant weight loss caused by medical disorders, psychological disorders, or surgery. In younger patients, it most commonly occurs after corrective spinal surgery for scoliosis. Delays in diagnosis may result in significant complications. Depending on the cause and severity, treatment options may include addressing the underlying cause, dietary changes (small feedings or a liquid diet), and/or surgery. Symptoms may not resolve completely after treatment." "" + "duodenal disorder" "Pathological conditions in the duodenum region of the small intestine (intestine, small)." "" + "intestinal obstruction" "Blockage of the normal flow of the intestinal contents within the bowel." "" + "obsolete pseudomyxoma peritonei" "" "true" + "obsolete meningioma" "" "true" + "liver and intrahepatic bile duct neoplasm" "A benign or malignant neoplasm that affects the liver parenchyma or intrahepatic bile ducts. Representative examples of benign neoplasms include hepatocellular adenoma, and bile duct adenoma. Representative examples of malignant neoplasms include hepatocellular carcinoma, intrahepatic cholangiocarcinoma, and lymphoma." "" + "intracranial sinus thrombosis" "Formation or presence of a blood clot (thrombus) in the cranial sinuses, large endothelium-lined venous channels situated within the skull. Intracranial sinuses, also called cranial venous sinuses, include the superior sagittal, cavernous, lateral, petrous sinuses, and many others. Cranial sinus thrombosis can lead to severe headache; seizure; and other neurological defects." "" + "intracranial thrombosis" "Formation or presence of a blood clot (thrombus) in a blood vessel within the skull. Intracranial thrombosis can lead to thrombotic occlusions and brain infarction. The majority of the thrombotic occlusions are associated with atherosclerosis." "" + "lateral sinus thrombosis" "Formation or presence of a blood clot (thrombus) in the lateral sinuses. This condition is often associated with ear infections (otitis media or mastoiditis) without antibiotic treatment. In developed nations, lateral sinus thrombosis can result from craniocerebral trauma; brain neoplasms; neurosurgical procedures; thrombophilia; and other conditions. Clinical features include headache; vertigo; and increased intracranial pressure." "" + "cavernous sinus thrombosis" "Formation or presence of a blood clot (thrombus) in the cavernous sinus of the brain. Infections of the paranasal sinuses and adjacent structures, craniocerebral trauma, and thrombophilia are associated conditions. Clinical manifestations include dysfunction of cranial nerves iii, iv, V, and vi, marked periorbital swelling, chemosis, fever, and visual loss. (From Adams et al., Principles of Neurology, 6th ed, p711)" "" + "sagittal sinus thrombosis" "Formation or presence of a blood clot (thrombus) in the superior sagittal sinus or the inferior sagittal sinus. Sagittal sinus thrombosis can result from infections, hematological disorders, craniocerebral trauma; and neurosurgical procedures. Clinical features are primarily related to the increased intracranial pressure causing headache; nausea; and vomiting. Severe cases can evolve to seizures or coma." "" + "sex cord-stromal tumor" "A neoplasm involving a sex cord." "" + "ovarian gonadoblastoma" "A neoplasm that arises from the ovary and is composed of tissues that resemble dysgerminoma or seminoma and are admixed with sex cord tissues. It is found in children or young adults and usually is associated with secondary sex organs abnormalities. The majority of patients present as phenotypic females with virilization. The minority of patients present as phenotypic males with feminization. It typically affects both gonads. If a malignant germ cell component is present, it may metastasize to other anatomic sites." "" + "gonadoblastoma" "A mixed germ cell/sex cord-stromal tumor characterized by the presence of large germ cells which resemble seminoma cells and small cells which resemble Sertoli or granulosa cells. It occurs in the testis and the ovary and is identified in children and adults. It is often associated with gonadal dysgenesis and abnormal karyotype." "" + "malignant sex cord stromal tumor of ovary" "Malignant sex cord stromal tumor (SCST) of ovary is a rare ovarian cancer arising from granulosa, theca, sertoli and leydig cells or stromal fibroblasts, occurring at any age and presenting with abdominal or pelvic mass, and characterized (with the exception of fibroma) by the production of sex steroids resulting in manifestations of hormone excess, with a relatively favorable prognosis." "" + "testicular gonadoblastoma" "A testicular mixed germ cell-sex cord-stromal tumor. It is usually associated with mixed gonadal dysgenesis and ambiguous genitalia. It is characterized by the presence of nests of large neoplastic germ cells and immature cells that resemble Sertoli cells." "" + "obsolete pancreatic ductal carcinoma" "" "true" + "obsolete epithelioid trophoblastic tumor" "" "true" + "ovarian mucinous cystadenocarcinoma" "An invasive cystic adenocarcinoma arising from the ovary. It is characterized by the presence of malignant glandular epithelial cells which contain intracytoplasmic mucin. The malignant cells invade the ovarian stroma and the cystic spaces contain mucoid material. In a minority of cases both ovaries are involved by the tumor. The prognosis for stage I tumors is excellent. Patients with metastases usually have a poor prognosis." "" + "mucinous cystadenocarcinoma" "An invasive adenocarcinoma characterized by cystic changes and the presence of malignant glandular cells which contain intracytoplasmic mucin. It may arise from the ovary, pancreas, appendix, and lung." "" + "ovarian cystadenocarcinoma" "An adenocarcinoma that arises from the ovary and is characterized by the presence of cystic structures. It includes the serous cystadenocarcinoma, mucinous cystadenocarcinoma, and clear cell cystadenocarcinoma." "" + "ovarian mucinous adenocarcinoma" "An invasive adenocarcinoma that arises from the ovary and is characterized by the presence of malignant epithelial cells that contain intracytoplasmic mucin. There is cellular atypia, increased layering of cells, complexity of glands, and papillary formations." "" + "cystadenocarcinoma" "A malignant cystic epithelial neoplasm arising from the glandular epithelium. The malignant epithelial cells invade the stroma. The cystic spaces contain serous or mucinous fluid. Representative examples include ovarian and pancreatic cystadenocarcinomas." "" + "ovarian adenocarcinoma" "An adenocarcinoma that arises from the ovary. It is the most common type of ovarian carcinoma. It includes the serous adenocarcinoma, mucinous adenocarcinoma, clear cell adenocarcinoma, and endometrioid adenocarcinoma." "" + "appendix mucinous cystadenocarcinoma" "An adenocarcinoma arising from the appendix, characterized by the presence of mucinous stroma formation and cystic structures." "" + "mucinous adenocarcinoma of the appendix" "Mucinous adenocarcinoma of the appendix is a very rare, slow growing, well-differentiated epithelial neoplasm of the appendix characterized by abundant mucin production. Clinically, it presents as acute appendicitis (with abdominal pain, fever, leukocytosis) or as pseudomyxoma peritonei (wide-spread presence of mucin within the peritoneal cavity), however some patients may be completely asymptomatic at the time of diagnosis. In many cases, a second gastrointestinal malignancy is present." "" + "obsolete appendix adenocarcinoma" "" "true" + "breast mucinous cystadenocarcinoma" "An invasive breast adenocarcinoma characterized by the presence of tall columnar neoplastic cells that contain intracytoplasmic mucin. Grossly, cystic changes are identified." "" + "breast mucinous carcinoma" "An invasive adenocarcinoma of the breast characterized by the presence of islands of small and uniform cells, surrounded by large amounts of mucin. Pure mucinous breast carcinomas generally have a favorable prognosis." "" + "cervix endometriosis" "Endometriosis that affects the cervix. Most patients are asymptomatic. Some patients may present with recurrent minimal uterine bleeding." "" + "invasive ductal breast carcinoma" "The most common type of invasive breast carcinoma, accounting for approximately 70% of breast carcinomas. The gross appearance is usually typical with an irregular stellate outline. Microscopically, randomly arranged epithelial elements are seen. When large sheets of malignant cells are present, necrosis may be seen. With adequate tissue sampling, in situ carcinoma can be demonstrated in association with the infiltrating carcinoma. The in situ component is nearly always ductal but occasionally may be lobular or both." "" + "mucinous adenocarcinoma" "An invasive adenocarcinoma composed of malignant glandular cells which contain intracytoplasmic mucin. Often, the infiltrating glandular structures are associated with mucoid stromal formation. It may arise from the large and small intestine, appendix, stomach, lung, ovary, breast, corpus uteri, cervix, vagina, and salivary gland." "" + "obsolete Kallmann syndrome" "" "true" + "infiltrating angiolipoma" "An uncommon lipoma characterized by prominent vascularity that invades the surrounding deep tissue." "" + "angiolipoma" "A lipoma with prominent vascularity. The vascular tissue is more abundant at the periphery of the tumor and contains fibrin thrombi. It occurs more frequently in younger individuals as a painful subcutaneous nodule, often on the arms." "" + "infiltrating lipoma" "A benign tumor, composed of lobules of mature adipocytes, that penetrates the surrounding tissue from which it arises. There is usually a higher local recurrence rate when compared with non-infiltrating lipomas." "" + "obsolete angiolipoma" "" "true" + "epidural spinal canal angiolipoma" "An uncommon lipoma characterized by prominent vascularity that arises in the epidural space of the spinal canal." "" + "epidural spinal canal neoplasm" "A primary or metastatic neoplasm that involves the space between the vertebral periosteum and dura mater that surrounds the spinal cord." "" + "childhood spinal cord tumor" "A benign or malignant neoplasm affecting the spinal cord during childhood." "" + "spinal cord intramedullary teratoma" "" + "central nervous system teratoma" "A mature or immature teratoma that affects the central nervous system." "" + "primary germ cell tumor of central nervous system" "" + "extragonadal teratoma" "Extragonadal teratoma is an extremely rare, benign or malignant germ cell tumor characterized, clinically, by a teratoma presenting in an extragonadal location (e.g. retroperitoneum, mediastinum, craniofacial or sacrococcygeal region, intraosseous, solid organs) and, histologically, by displaying well-differentiated structures, as well as immature elements. Presenting symptoms are variable depending on size and location of tumor." "" + "central nervous system nongerminomatous germ cell tumor" "Germ cell tumors of the central nervous system other than germinoma. This category includes teratoma, choriocarcinoma, embryonal carcinoma, and yolk sac tumor." "" + "conus medullaris neoplasm" "A neoplasm (disease) that involves the conus medullaris." "" + "sella turcica neoplasm" "A benign or malignant neoplasm that occurs in sella turcica. Representative examples include craniopharyngioma and pituitary gland adenoma." "" + "skull base neoplasm" "A benign or malignant neoplasm that affects the skull base." "" + "pituitary gland disorder" "A disease involving the pituitary gland." "" + "olfactory nerve neoplasm" "Benign and malignant neoplasms which arise from or metastasize to the olfactory or first cranial nerve. Clinical features may include facial pain and impairments of taste or smell." "" + "olfactory nerve disorder" "A disease involving the olfactory nerve." "" + "obsolete cutaneous mastocytosis" "" "true" + "mast cell neoplasm" "A heterogeneous group of disorders characterized by the abnormal growth and accumulation of mast cells in one or more organ systems. Recent data suggest that most variants of mast cell neoplasms are clonal disorders. (WHO, 2001)" "" + "myeloid neoplasm" "Proliferation of myeloid cells originating from a primitive stem cell." "" + "obsolete diffuse cutaneous mastocytosis" "" "true" + "cutaneous solitary mastocytoma" "A variant of cutaneous mastocytosis which occurs as a single lesion usually in infants. It is found mostly in the wrist and trunk and there is no atypical cytomorphology." "" + "rhabdoid tumor of the kidney" "A rhabdoid tumor that arises from the kidney. It occurs in children and it is associated with abnormalities of chromosome 22. It is characterized by the presence of cells with a large eccentric nucleus, prominent nucleolus, and abundant cytoplasm. The prognosis is poor." "" + "kidney sarcoma" "A sarcoma involving a kidney." "" + "childhood kidney neoplasm" "A kidney neoplasm that occurs during childhood." "" + "lung neoplasm" "A benign or malignant, primary or metastatic neoplasm involving the lungs. Representative examples of benign neoplasms include adenoma, papilloma, chondroma, and endobronchial lipoma. Representative examples of malignant neoplasms include carcinoma, carcinoid tumor, sarcoma, and lymphoma." "" + "" "true" + "anal mucinous adenocarcinoma" "An anal adenocarcinoma characterized by the presence of mucoid stroma formation." "" + "rectum mucinous adenocarcinoma" "An invasive adenocarcinoma of the rectum characterized by the presence of pools of extracellular mucin. Malignant glandular epithelial cells are present in the mucin collections. Mucin constitutes more than 50% of the lesion." "" + "anal canal adenocarcinoma" "An anal adenocarcinoma arising from the anal canal mucosa. Morphologically, it resembles the adenocarcinoma which arises from the colorectal glandular epithelium. Symptoms include anal pruritus, discomfort when sitting, pain, change in bowel habit, and bleeding." "" + "anal canal carcinoma" "A carcinoma that arises from epithelial cells of the anal canal" "" + "ampulla of vater mucinous adenocarcinoma" "A carcinoma with glandular differentiation arising from the ampulla of Vater. Morphologically, it is characterized by the presence of mucoid stroma formation." "" + "extrahepatic bile duct mucinous adenocarcinoma" "An adenocarcinoma that arises from the extrahepatic bile ducts. It is characterized by the presence of extracellular mucin that constitutes more than fifty-percent of the tumor." "" + "acute sanguinous otitis media" "A acute transudative otitis media which involves bloody effusion." "" + "uterine ligament mucinous adenocarcinoma" "A rare mucinous adenocarcinoma that arises from the uterine ligament." "" + "uterine ligament adenocarcinoma" "A rare adenocarcinoma that arises from the uterine ligament." "" + "cervical mucinous adenocarcinoma" "A usually well to moderately differentiated cervical adenocarcinoma characterized by the presence of malignant glandular cells that contain significant amount of intracytoplasmic mucin." "" + "uterine ligament cancer" "A primary or metastatic malignant neoplasm that affects the uterine ligament." "" + "adenocarcinoma of cervix uteri" "A adenocarcinoma that involves the uterine cervix." "" + "obsolete prostate colloid adenocarcinoma" "" "true" + "fallopian tube mucinous adenocarcinoma" "An extremely rare adenocarcinoma that arises from the fallopian tube. It is characterized by the presence of neoplastic epithelial cells that contain intracytoplasmic mucin. The cases that have been reported are predominantly in situ mucinous adenocarcinomas." "" + "fallopian tube mucinous tumor" "A rare borderline or malignant epithelial tumor of the fallopian tube characterized by the presence of neoplastic epithelial cells that contain intracytoplasmic mucin and may resemble the epithelial cells of the endocervix or gastrointestinal tract." "" + "fallopian tube adenocarcinoma" "A carcinoma that arises from glandular epithelial cells of the fallopian tube" "" + "fallopian tube carcinoma" "A carcinoma that arises from epithelial cells of the fallopian tube." "" + "endometrial mucinous adenocarcinoma" "A primary, usually low grade adenocarcinoma of the endometrium in which the majority of the malignant epithelial cells contain abundant intracytoplasmic mucin." "" + "endometrium adenocarcinoma" "An adenocarcinoma arising from the uterine body cavity. This is the most frequent malignant tumor affecting the uterine body, and is linked to estrogen therapy. Most patients present with uterine bleeding and are over age 40 at the time of diagnosis. The prognosis depends on the stage of the tumor, the depth of the uterine wall invasion, and the histologic subtype. Endometrioid adenocarcinoma is the most frequently seen morphologic variant of endometrial adenocarcinoma." "" + "bladder colloid adenocarcinoma" "" + "bladder adenocarcinoma" "A carcinoma that arises from glandular epithelial cells of the urinary bladder" "" + "urinary bladder carcinoma" "A carcinoma that arises from epithelial cells of the urinary bladder" "" + "ovarian carcinoma" "A malignant neoplasm originating from the surface ovarian epithelium. It accounts for the greatest number of deaths from malignancies of the female genital tract and is the fifth leading cause of cancer fatalities in women. It is predominantly a disease of older white women of northern European extraction, but it is seen in all ages and ethnic groups. Adenocarcinomas constitute the vast majority of ovarian carcinomas. The pattern of metastatic spread in ovarian carcinoma is similar regardless of the microscopic type. The most common sites of involvement are the contralateral ovary, peritoneal cavity, para-aortic and pelvic lymph nodes, and liver. Lung and pleura are the most common sites of extra-abdominal spread. The primary form of therapy is surgical. The overall prognosis of ovarian carcinoma remains poor, a direct result of its rapid growth rate and the lack of early symptoms. --2002" "" + "obsolete mucinous stomach adenocarcinoma" "" "true" + "extramedullary plasmacytoma" "A plasma cell neoplasm arising at an extraosseous site. There is no involvement of the bone marrow. It most frequently involves the oropharynx, nasopharynx, sinuses, and larynx. Other sites of involvement include the gastrointestinal tract, central nervous system, breast, skin, lymph nodes, and bladder. A minority of patients have a monoclonal gammopathy. Treatment includes radiation therapy. Progression to plasma cell myeloma occurs in a minority of patients." "" + "plasmacytoma" "Plasmacytoma is a localized mass of neoplastic monoclonal plasma cells that represents approximately 5% of all plasma cell neoplasms. There are two separate entities: primary plasmacytoma of the bone and extramedullary plasmacytoma of the soft tissues. Of the extramedullary plasmacytomas, 80% occur in the head and neck, usually in the upper respiratory tract. The median age at diagnosis is 50 years and the male to female ratio is 3:1. Long-term survival is possible following local radiotherapy, particularly for soft tissue presentations." "" + "solitary osseous plasmacytoma" "A localized, clonal (malignant) plasma cell infiltrate in the bone, without peripheral blood involvement. The most commonly affected bones are the vertebrae, ribs, skull, pelvis and femur. X-rays examination reveals a solitary lytic lesion." "" + "solitary plasmacytoma of chest wall" "A solitary plasmacytoma that arises from the chest wall." "" + "chest wall lymphoma" "A lymphoma that affects the structures of the chest wall. The majority of cases are diffuse large B-cell lymphomas." "" + "acute allergic sanguinous otitis media" "A acute sanguinous otitis media caused by an allergen." "" + "vulva verrucous carcinoma" "A highly differentiated squamous cell carcinoma that arises from the vulva. It is characterized by the presence of a warty and hyperkeratinized surface, malignant cells with abundant eosinophilic cytoplasm, minimal cytologic atypia, and absence or rarity of mitotic figures. The tumor infiltrates the underlying stroma with a pushing border." "" + "verrucous carcinoma" "A well differentiated squamous cell carcinoma characterized by a papillary growth pattern, acanthosis, mild cytologic atypia, and pushing tumor margins. The most commonly affected anatomic sites are the oral cavity, nasal cavity, larynx, esophagus, anus, vagina, vulva, and the plantar region of the foot." "" + "vulvar squamous cell carcinoma" "An invasive squamous cell carcinoma arising from the vulva. Risk factors include the human papilloma virus and cigarette smoking. Precursor lesions include the vulvar intraepithelial neoplasia, lichen sclerosus with associated squamous cell hyperplasia, and chronic granulomatous vulvar disease such as granuloma inguinale. Symptoms include vulvar pruritus or irritation, discharge, bleeding, and pain. The following morphologic variants have been identified: keratinizing, non-keratinizing, basaloid, warty, verrucous, keratoacanthoma-like, and squamous cell carcinoma with tumor giant cells. Risk factors for recurrence include advanced stage, tumor diameter greater than 2.5 cm, multifocality, capillary-like space involvement, associated vulvar intraepithelial neoplasia grades 2 or 3, and margins of resection involved by tumor. (WHO, 2003)" "" + "bladder verrucous carcinoma" "A verrucous carcinoma that involves the urinary bladder." "" + "bladder squamous cell carcinoma" "A squamous cell carcinoma of the bladder arising from metaplastic epithelium. It represents less than 10% of bladder carcinomas. The exception is the Middle East along the Nile Valley, where it represents the most common form of carcinoma because of the endemic nature of schistosomiasis. Bladder squamous cell carcinoma is often associated with long-standing chronic inflammation of the bladder and usually has a poor prognosis. The diagnosis of squamous cell carcinoma of the bladder should be reserved for those tumors that are predominantly keratin forming." "" + "cervical verrucous carcinoma" "A highly differentiated variant of cervical squamous cell carcinoma characterized by the presence of a warty surface and stromal invasion with pushing borders. The malignant cells have abundant cytoplasm and minimal nuclear atypia. Koilocytosis is not present." "" + "cervical squamous cell carcinoma" "A squamous cell carcinoma arising from the cervical epithelium. It usually evolves from a precancerous cervical lesion. Increased numbers of sexual partners and human papillomavirus (HPV) infection are risk factors for cervical squamous cell carcinoma. The following histologic patterns have been described: conventional squamous cell carcinoma, papillary squamous cell carcinoma, transitional cell carcinoma, lymphoepithelioma-like carcinoma, verrucous carcinoma, condylomatous carcinoma and spindle cell carcinoma. Survival is most closely related to the stage of disease at the time of diagnosis." "" + "papillary carcinoma of the cervix uteri" "A papillary carcinoma that involves the uterine cervix." "" + "esophagus verrucous carcinoma" "A rare variant of esophageal squamous cell carcinoma. It is an exophytic, cauliflower-like or papillary mass that can arise in any part of the esophagus. This variant of squamous cell carcinoma grows slowly and invades locally, with a very low metastasizing potential. (WHO)" "" + "esophageal squamous cell carcinoma" "Esophageal squamous cell carcinoma (ESCC) is a type of esophageal carcinoma (EC) that can affect any part of the esophagus, but is usually located in the upper or middle third." "" + "urethral verrucous carcinoma" "A verrucous carcinoma that involves the urethra." "" + "urethra squamous cell carcinoma" "A well differentiated, moderately differentiated, or poorly differentiated squamous cell carcinoma that arises from the male or female urethra." "" + "carcinoma of urethra" "A carcinoma that involves the urethra." "" + "plantar verrucous skin carcinoma" "A verrucous carcinoma that involves the plantar part of pes." "" + "larynx verrucous carcinoma" "A well differentaited, non-metastasizing squamous cell carcinoma arising from the larynx. It is an exophytic, warty, and slow growing tumor affecting predominantly older men. It is associated with tobacco smoking. Symptoms include hoarseness, airway obstruction, weight loss, dysphagia, and throat pain. If left untreated, it may cause extensive local destruction." "" + "laryngeal squamous cell carcinoma" "A squamous cell carcinoma that arises from the larynx. It is the most common histologic type of laryngeal carcinoma. It can arise from the glottis, supraglottic area, or it can be transglottic. Glottic squamous cell carcinoma is the most frequent laryngeal carcinoma in the United States. The symptoms, clinical behavior and the prognosis depend on the site of origin within the larynx." "" + "obsolete protein C deficiency" "A rare thrombophilia disorder characterized by deficiency of protein C. It results in venous thromboembolism." "" "true" + "true hermaphroditism" "A rare condition characterized by the unequivocal presence of both testicular and ovarian tissues in an individual. It is usually manifested with ambiguous external genitalia." "" + "leukorrhea" "Whitish or yellowish mucosal vaginal discharge." "" + "vaginal discharge" "Normal or abnormal secretions from the vagina. Mucus produced by the cervical glands is discharged from the vagina naturally, especially during the childbearing years. Causes of abnormal vaginal discharge include infectious agents (e.g., Neisseria gonorrhea, Chlamydia trachomatis, Trichomonas, and Candida albicans), the presence of foreign bodies, and cervical or vaginal cancer." "" + "interstitial lung disease" "A diverse group of lung diseases that affect the lung parenchyma. They are characterized by an initial inflammation of pulmonary alveoli that extends to the interstitium and beyond leading to diffuse pulmonary fibrosis. Interstitial lung diseases are classified by their etiology (known or unknown causes), and radiological-pathological features." "" + "intraventricular meningioma" "A meningioma that affects the ventricles of the brain." "" + "malignant tumor of meninges" "A cancer that involves the meningeal cluster." "" + "cerebral meningioma" "A meningioma that affects the cerebral hemispheres." "" + "" "true" + "chordoid glioma of the third ventricle" "A rare, slow-growing neuroepithelial neoplasm of uncertain origin affecting adults. It is located in the third ventricle. It is characterized by the presence of epithelioid cells which express GFAP, and mucinous stroma which contains lymphoplasmacytic infiltrates." "" + "obsolete chordoid glioma" "" "true" + "anovulation" "The absence of ovulation." "" + "external ear disorder" "A disease involving the external ear." "" + "obsolete pleural empyema" "" "true" + "epidural spinal canal meningioma" "A meningioma that arises in the epidural spinal canal space." "" + "central nervous system chondroma" "An extraskeletal chondroma usually arising from the dura." "" + "soft tissue chondroma" "A benign neoplasm arising from the extraskeletal soft tissues near tendons and joints. It is a well circumscribed tumor characterized by the presence of chondrocytes, a lobulated hyaline cartilage growth pattern, and in some cases calcification." "" + "" "true" + "glossopharyngeal nerve paralysis" "Paralysis of the glossopharyngeal nerve." "" + "Shwartzman phenomenon" "Hemorrhagic necrosis that was first demonstrated in rabbits with a two-step reaction, an initial local (intradermal) or general (intravenous) injection of a priming endotoxin (endotoxins) followed by a second intravenous endotoxin injection (provoking agent) 24 h later. The acute inflammation damages the small blood vessels. The following intravascular coagulation leads to capillary and venous thrombosis and necrosis. Shwartzman phenomenon can also occur in other species with a single injection of a provoking agent, and during infections or pregnancy. Its susceptibility depends on the status of immune system, coagulation, fibrinolysis, and blood flow." "" + "vascular hemostatic disease" "Pathological processes involving the integrity of blood circulation. Hemostasis depends on the integrity of blood vessels, blood fluidity, and blood coagulation. Majority of the hemostatic disorders are caused by disruption of the normal interaction between the vascular endothelium, the plasma proteins (including blood coagulation factors), and platelets." "" + "obsolete craniopharyngioma" "" "true" + "diencephalic cancer" "A cancer involving a diencephalon." "" + "adamantinous craniopharyngioma" "A craniopharyngioma consisting of broad strands, cords and bridges of a multistratified squamous epithelium with peripheral palisading of nuclei. Diagnostic features include nodules of compact 'wet' keratin and dystrophic calcification. (Adapted from WHO)" "" + "craniopharyngioma" "A benign, partly cystic, epithelial tumor of the sellar region, presumably derived from Rathke pouch epithelium. It affects mainly children and young adults. There are two clinicopathological forms: adamantinomatous craniopharyngioma and papillary craniopharyngioma. The most significant factor associated with recurrence is the extent of surgical resection, with lesions greater than 5 cm in diameter carrying a markedly worse prognosis. (Adapted from WHO)" "" + "papillary craniopharyngioma" "A craniopharyngioma composed of sheets of squamous epithelium which separate to form pseudopapillae. This variant typically lacks nuclear palisading, wet keratin, calcification, and cholesterol deposits. Clinically, endocrine deficiencies are more often associated with papillary craniopharyngioma than with the adamantinomatous type. (Adapted from WHO)" "" + "hemangiopericytic tumor" "A term that refers to vascular neoplasms with a prominent hemangiopericytic growth pattern." "" + "neoplasm of testis" "A neoplasm (disease) that involves the testis." "" + "large cell medulloblastoma" "A medulloblastoma composed of large cells with prominent nucleoli and a larger amount of cytoplasm in contrast with the cells of the classic medulloblastoma." "" + "cerebellar vermis medulloblastoma" "A medulloblastoma arising from the vermis of the cerebellum." "" + "obsolete medullomyoblastoma" "" "true" + "adult medulloblastoma" "A medulloblastoma arising from the brain, occurring in adults." "" + "adult cerebellar neoplasm" "A cerebellar neoplasm that occurs in an adult." "" + "adult central nervous system primitive neuroectodermal neoplasm" "A central nervous system embryonal tumor, not otherwise specified that occurs in adults." "" + "melanotic medulloblastoma" "A rare malignant embryonal neoplasm characterized by the presence of small cells which resemble the cells of classic medulloblastoma and a minor population of melanin-forming neuroepithelial cells. It usually has an unfavorable clinical course." "" + "childhood medulloblastoma" "A medulloblastoma occurring in children." "" + "childhood cerebellar neoplasm" "A neoplasm that affects the cerebellum and occurs during childhood." "" + "childhood central nervous system primitive neuroectodermal neoplasm" "A central nervous system embryonal tumor, not otherwise specified that occurs in childhood." "" + "nodular medulloblastoma" "A medulloblastoma characterized by nodularity and neuronal differentiation." "" + "phlebitis" "Inflammation of a vein." "" + "colonic pseudo-obstruction" "Functional obstruction of the colon leading to megacolon in the absence of obvious colonic diseases or mechanical obstruction. When this condition is acquired, acute, and coexisting with another medical condition (trauma, surgery, serious injuries or illness, or medication), it is called Ogilvie's syndrome." "" + "functional colonic disease" "Chronic or recurrent colonic disorders without an identifiable structural or biochemical explanation. The widely recognized irritable bowel syndrome falls into this category." "" + "intestinal pseudo-obstruction" "Intestinal pseudo-obstruction is a digestive disorder in whichthe intestinal walls are unable to contract normally (called hypomotility); the conditionresembles a true obstruction, but no actual blockage exists. Signs and symptoms may include abdominal pain; vomiting; diarrhea; constipation; malabsorption of nutrients leading to weight loss and/or failure to thrive ; and other symptoms. It may be classified as neuropathic (from lack of nerve function)or myopathic (from lack of muscle function), depending on the source of the abnormality. The condition is sometimes inherited (in an X-linked recessive or autosomal dominant manner)and may be caused by mutations in the FLNA gene; it may also be acquired after certain illnesses. The goal of treatment is to provide relief from symptoms andensure that nutritional support is adequate." "" + "ileus" "Decrease in peristalsis in the absence of a mechanical bowel obstruction." "" + "apocrine adenoma" "A benign epithelial neoplasm arising from the apocrine sweat glands. Representative examples include tubular apocrine adenoma and external auditory canal ceruminous adenoma." "" + "apocrine sweat gland neoplasm" "A benign or malignant sweat gland neoplasm with apocrine differentiation. Representative examples include apocrine adenoma, ceruminous adenocarcinoma, and apocrine breast carcinoma." "" + "sweat gland adenoma" "A benign epithelial neoplasm arising from the sweat glands. Representative examples include tubular apocrine adenoma, syringofibroadenoma, and hidradenoma." "" + "lung carcinoma" "A carcinoma that arises from epithelial cells of the lung" "" + "respiratory tract neoplasm" "A benign or malignant, primary or metastatic neoplasm involving the respiratory tract." "" + "pancreatic serous cystadenoma" "A benign, non-metastasizing cystic epithelial neoplasm arising from the exocrine pancreas. It is composed of glycogen-rich epithelial cells which produce a watery fluid. Signs and symptoms include abdominal mass, abdominal pain, nausea, vomiting, and weight loss." "" + "serous cystadenoma" "A serous neoplasm in which the cysts and papillae are lined by a single layer of cells without atypia, architectural complexity or invasion." "" + "pancreatic cystadenoma" "A non-metastasizing cystic epithelial neoplasm arising from the exocrine pancreas." "" + "pancreatic serous cystic neoplasm" "A benign or malignant epithelial neoplasm that is usually cystic and arises from the exocrine pancreas. It is characterized by the presence of neoplastic epithelial cells that produce fluid similar to serum. Representative examples include serous cystadenoma and serous cystadenocarcinoma." "" + "main bronchus cancer" "A malignant neoplasm involving the main bronchus." "" + "lipomatous cancer" "A malignant mesenchymal neoplasm arising from adipocytes." "" + "tumor of adipose tissue" "A neoplasm (disease) that involves the adipose tissue." "" + "adrenal carcinoma" "A carcinoma involving a adrenal gland." "" + "adrenal gland cancer" "A malignant neoplasm involving the adrenal gland" "" + "adrenal gland neoplasm" "A neoplasm (disease) that involves the adrenal gland." "" + "obsolete adrenal cortical adenocarcinoma" "" "true" + "obsolete Loeffler endocarditis" "" "true" + "obsolete thyroid carcinoma" "" "true" + "trabecular follicular adenocarcinoma" "" + "thyroid gland follicular carcinoma" "A differentiated adenocarcinoma arising from the follicular cells of the thyroid gland. The nuclear features which characterize the thyroid gland papillary carcinoma are absent. Radiation exposure is a risk factor and it comprises approximately 10% to 15% of thyroid cancers. Clinically, it usually presents as a solitary mass in the thyroid gland. It is generally unifocal and thickly encapsulated and shows invasion of the capsule or the vessels. Diagnostic procedures include thyroid ultrasound and fine needle biopsy." "" + "trabecular adenocarcinoma" "A malignant epithelial neoplasm characterized by the presence of a trabecular glandular architectural pattern." "" + "obsolete thyroid gland medullary carcinoma" "" "true" + "obsolete Meige syndrome" "" "true" + "obsolete tuberculosis" "" "true" + "obsolete urinary system cancer" "" "true" + "Bartholin gland transitional cell carcinoma" "A rare carcinoma that arises from the Bartholin gland and is characterized by the presence of malignant urothelial-type epithelial cells." "" + "transitional cell carcinoma" "A malignant neoplasm arising from the transitional epithelium, usually affecting the urinary bladder, ureter, or renal pelvis. It may or may not have a papillary configuration. It is graded 1 to 3 or 4 according to the degree of cellular differentiation and architectural patterns. Grade 1 transitional cell carcinoma is histologically benign but it may recur. Transitional cell carcinomas may also affect the upper respiratory tract and the ovaries." "" + "bartholin gland carcinoma" "A carcinoma that arises from the Bartholin gland. It usually affects women over fifty and presents with enlargement of the Bartholin gland. Various histologic subtypes have been identified and include adenocarcinoma, squamous cell carcinoma, adenoid cystic carcinoma, adenosquamous carcinoma, transitional cell carcinoma, and small cell carcinoma." "" + "obsolete ovary transitional cell carcinoma" "" "true" + "non-keratinizing sinonasal squamous cell carcinoma" "A squamous cell carcinoma of the sinonasal tract characterized by a plexiform or ribbon-like growth pattern, cytological atypia, and lack of histological evidence of keratinization." "" + "nasal cavity and paranasal sinus squamous cell carcinoma" "A rare, keratinizing or non-keratinizing squamous cell carcinoma arising from the mucosal epithelium of the nasal cavity or the paranasal sinuses. It affects most often the maxillary sinus. Less frequently, it arises from the nasal cavity, ethmoid sinus, sphenoid sinus, and frontal sinus. Symptoms include nasal fullness, epistaxis, rhinorhea, pain, and paresthesia. Patients with nasal squamous cell carcinoma usually present earlier than patients with maxillary sinus carcinoma and have a better prognosis compared to the latter group." "" + "endometrial transitional cell carcinoma" "A rare primary carcinoma of the endometrium characterized by the presence of malignant epithelial cells resembling urothelial transitional cells. The malignant transitional cells constitute at least 90% of the tumor cells." "" + "fallopian tube transitional cell carcinoma" "A rare transitional cell carcinoma that arises from the fallopian tube." "" + "primary prostate urothelial carcinoma" "An urothelial carcinoma that arises from the urothelial lining of the prostatic ducts or the prostatic urethra." "" + "obsolete papillary transitional carcinoma" "" "true" + "urethra transitional cell carcinoma" "A transitional cell carcinoma that arises from the male or female urethra." "" + "urothelial carcinoma" "A malignant neoplasm derived from the transitional epithelium of the urinary tract (urinary bladder, ureter, urethra, or renal pelvis). It is frequently papillary." "" + "sarcomatoid transitional cell carcinoma" "A poorly differentiated transitional cell carcinoma characterized by the presence of malignant cells with spindle cell morphologic features." "" + "sarcomatoid carcinoma" "A malignant epithelial neoplasm characterized by the presence of spindle cells and anaplastic morphologic features. Giant cells and a sarcomatous component may also be present." "" + "obsolete spindle cell carcinoma" "" "true" + "leather-bottle stomach" "A cancer-related condition in which the gastric wall becomes thickened and rubbery (leather-bottle stomach). It is most often associated with diffuse gastric adenocarcinomas." "" + "cancer-related condition" "A disorder either associated with an increased risk for malignant transformation (e.g., intraepithelial neoplasia, leukoplakia, dysplastic nevus, myelodysplastic syndrome) or that develops as a result of the presence of an existing malignant neoplasm (e.g., paraneoplastic syndrome)." "" + "diffuse gastric adenocarcinoma" "An adenocarcinoma arising from the stomach. Microscopically, it is characterized by the presence of a diffuse infiltrate, composed of individual adenocarcinoma cells or groups of adenocarcinoma cells in a fibrous or mucoid stroma. Many cells contain mucin droplets, producing a signet-ring configuration." "" + "eosinophilic gastritis" "An eosinophilic gastroenteritis that is characterized by inflammation of the stomach." "" + "eosinophilic gastroenteritis" "Eosinophilic gastroenteritis (EGE) is a rare benign gastrointestinal disease characterized by the presence of abnormal and nonspecific gastro-intestinal (GI) manifestations, associated with an eosinophilic infiltration of the GI tract, which can affect several segments and involve several layers within the GI wall." "" + "obsolete eosinophilic gastroenteritis" "" "true" + "bacterial gastritis" "Gastritis resulting from bacteria." "" + "fungal gastritis" "Gastritis resulting from fungi." "" + "lymphocytic gastritis" "" + "necrotizing gastritis" "A variant of phlegmonous gastritis, typically progressing to gastric gangrene." "" + "granulomatous gastritis" "Gastritis that is associated with the presence of granulomas." "" + "skeletal muscle cancer" "A malignant neoplasm arising from skeletal muscle." "" + "skeletal muscle neoplasm" "A benign or malignant mesenchymal neoplasm arising from skeletal muscle." "" + "central nervous system rhabdomyosarcoma" "A malignant mesenchymal neoplasm with skeletal muscle differentiation affecting the central nervous system." "" + "mediastinum rhabdomyosarcoma" "A malignant mesenchymal tumor with skeletal muscle differentiation affecting the mediastinum." "" + "mediastinum sarcoma" "A rare sarcoma that arises from the mediastinum. Examples include liposarcoma, leiomyosarcoma, and angiosarcoma." "" + "mediastinal soft tissue cancer" "A malignant neoplasm that arises from the soft tissues of the mediastinum." "" + "rectum rhabdomyosarcoma" "A malignant mesenchymal tumor with skeletal muscle differentiation affecting the rectum." "" + "prostate sarcoma" "A rare malignant soft tissue neoplasm that arises from the prostate gland. Representative examples include leiomyosarcoma, rhabdomyosarcoma, and stromal sarcoma." "" + "ectomesenchymoma" "An aggressive malignant mesenchymal neoplasm of the nervous system or soft tissues. It is characterized by the presence of a sarcomatous component (most often rhabdomyosarcoma) and a ganglionic or a neuroectodermal component." "" + "central nervous system mesenchymal non-meningothelial tumor" "A benign or malignant mesenchymal neoplasm originating in the central nervous system or the meninges and showing fibrous, fibrohistiocytic, adipose, myoid, endothelial, chondroid or osseous, but not meningothelial differentiation. Depending on the histological features and clinical behavior of these neoplasms, their grade ranges from benign (WHO grade I) to highly malignant (WHO grade IV). (Adapted from WHO)" "" + "gallbladder rhabdomyosarcoma" "A rhabdomyosarcoma that is located in the gallbladder." "" + "gallbladder sarcoma" "A malignant soft tissue neoplasm that arises from the gallbladder. Representative examples include Kaposi sarcoma, leiomyosarcoma, and rhabdomyosarcoma." "" + "ovary rhabdomyosarcoma" "A malignant mesenchymal tumor with skeletal muscle differentiation affecting the ovaries." "" + "breast rhabdomyosarcoma" "A malignant mesenchymal tumor with skeletal muscle differentiation affecting the breast." "" + "testis rhabdomyosarcoma" "A malignant mesenchymal tumor with skeletal muscle differentiation affecting the testis." "" + "testis sarcoma" "A sarcoma that arises from the testis. The majority of cases arise from teratomas or spermatocytic seminomas." "" + "bile duct sarcoma" "A sarcoma that involves the bile duct." "" + "rhabdomyosarcoma with mixed embryonal and alveolar features" "A rhabdomyosarcoma composed of embryonic and alveolar components. It is characterized by the presence of spindle cells with myoblastic differentiation, a myxoid stroma, and fibrous septa. These tumors were previously considered variants of alveolar rhabdomyosarcoma. The lack of PAX3-FOXO1 fusions in most of these tumors suggests that are biologically and clinically related to embryonal rhabdomyosarcoma." "" + "anus rhabdomyosarcoma" "A malignant mesenchymal tumor with skeletal muscle differentiation affecting the anus." "" + "anus sarcoma" "A malignant soft tissue neoplasm arising from the anus. Representative examples include leiomyosarcoma, rhabdomyosarcoma, and Kaposi sarcoma." "" + "pancreatic cystadenocarcinoma" "A cystic adenocarcinoma that arises from the pancreas. It includes the acinar cell and serous cystadenocarcinoma subtypes." "" + "pancreatic adenocarcinoma" "A carcinoma that arises from glandular epithelial cells of the pancreas" "" + "bile duct mucinous cystic neoplasm with an associated invasive carcinoma" "A mucinous cystic neoplasm that arises from the intrahepatic or extrahepatic bile ducts and it is associated with an invasive carcinomatous component." "" + "bile duct cystadenoma" "An epithelial, usually multiloculated neoplasm arising from the intrahepatic or extrahepatic bile ducts. It occurs predominantly in females. Signs and symptoms include abdominal mass, abdominal pain, and jaundice. Morphologically, the cystic spaces are lined by columnar epithelium and contain mucinous or serous fluid." "" + "tricuspid valve insufficiency" "The backflow of blood from the right ventricle into the right atrium, owning to imperfect functioning/insufficiency of the tricuspid valve." "" + "testicular trophoblastic tumor" "A tumor that arises from the testis and is composed of neoplastic trophoblastic cells. The vast majority of cases are choriocarcinomas." "" + "trophoblastic neoplasm" "A gestational or non-gestational neoplasm composed of neoplastic trophoblastic cells. Representative examples include hydatidiform mole and choriocarcinoma." "" + "testicular pure germ cell tumor" "A germ cell tumor that arises from the testis and is characterized by the presence of one histologic component. This category includes seminoma, teratoma, embryonal carcinoma, yolk sac tumor, and trophoblastic tumor." "" + "testicular non-seminomatous germ cell tumor" "A testicular germ cell tumor characterized by the absence of a seminomatous component. It includes embryonal carcinoma, yolk sac tumor, choriocarcinoma, teratoma, and mixed forms." "" + "obsolete testicular germ cell tumor non-seminomatous" "" "true" + "testicular germ cell tumor" "A germ cell tumor arising from the testis. Representative examples include teratoma, seminoma, embryonal carcinoma, and yolk sac tumor." "" + "cervical adenosarcoma" "A rare malignant mixed epithelial and mesenchymal neoplasm that arises from the cervix and is characterized by the presence of malignant mesenchymal elements and benign epithelial elements." "" + "malignant mixed epithelial and mesenchymal tumor of cervix uteri" "" + "cervical carcinosarcoma" "A mixed epithelial and mesenchymal neoplasm that arises from the cervix and is characterized by the presence of malignant mesenchymal elements and benign or malignant epithelial elements. This category includes adenosarcoma and carcinosarcoma." "" + "carcinosarcoma" "A malignant tumor composed of a mixture of carcinomatous and sarcomatous elements." "" + "uterine carcinosarcoma" "A usually aggressive malignant neoplasm arising from the uterine corpus and less often the cervix. It is characterized by the presence of two components: a malignant epithelial component and a sarcomatous component. In the uterine corpus the epithelial component is usually glandular whereas in the cervix is usually non-glandular. Carcinosarcoma of the cervix, although it is aggressive, it may have a better prognosis compared to the uterine corpus carcinosarcoma." "" + "uterine corpus adenosarcoma" "A primary polypoid malignant neoplasm of the uterine corpus characterized by the presence of a sarcomatous mesenchymal component and a benign epithelial component. Patients usually present with abnormal vaginal bleeding. It is considered a low grade malignant neoplasm and may recur following resection." "" + "uterine body mixed cancer" "A primary malignant neoplasm of the uterine corpus characterized by the presence of an epithelial and a mesenchymal component. This category includes carcinosarcoma, carcinofibroma, and adenosarcoma." "" + "uterine corpus mixed epithelial and mesenchymal neoplasm" "A primary, benign or malignant neoplasm of the uterine corpus characterized by the presence of an epithelial and a mesenchymal component. Representative examples include adenomyoma, adenosarcoma, and carcinosarcoma." "" + "ovarian adenosarcoma" "A biphasic neoplasm that arises from the ovary and is characterized by the presence of mullerian-type epithelial tissue in a mesenchymal sarcomatous stroma. The presence of a high grade sarcomatous component is associated with recurrences and metastases." "" + "ovarian carcinosarcoma" "A highly aggressive malignant neoplasm arising from the ovary. Morphologically, it is a high grade tumor, composed of carcinomatous and sarcomatous elements." "" + "vaginal adenosarcoma" "A malignant mixed epithelial and mesenchymal neoplasm that arises from the vagina and is characterized by the presence of a malignant mesenchymal component and a benign or atypical mullerian-type epithelial component." "" + "vaginal carcinosarcoma" "An aggressive mixed epithelial and mesenchymal neoplasm that arises from the vagina and is characterized by the presence of a malignant epithelial component and a malignant mesenchymal component." "" + "colon neuroendocrine neoplasm" "A neoplasm with neuroendocrine differentiation that arises from the colon. It includes well differentiated neuroendocrine tumors (low and intermediate grade) and poorly differentiated neuroendocrine carcinomas (high grade)." "" + "intestinal neuroendocrine neoplasm" "A neoplasm with neuroendocrine differentiation that arises from the small or large intestine. It includes well differentiated neuroendocrine tumors (low and intermediate grade) and poorly differentiated neuroendocrine carcinomas (high grade)." "" + "intestinal neoplasm" "A benign or malignant neoplasm involving the small or large intestine." "" + "nail disorder" "A disease involving the nail." "" + "erythrasma" "A chronic bacterial infection of major folds of the skin, caused by Corynebacterium minutissimum." "" + "common bile duct disorder" "A disease involving the common bile duct." "" + "biliary tract disorder" "A disease involving the biliary tree." "" + "intraorbital meningioma" "A meningioma that affects the intraorbital structures." "" + "orbit neoplasm" "A benign or malignant neoplasm that affects the orbit." "" + "orbital cancer" "A primary or metastatic malignant neoplasm involving the orbit." "" + "obsolete gastrointestinal adenoma" "" "true" + "obsolete gastrointestinal neuroendocrine benign tumor" "" "true" + "skull base chordoma" "A slow-growing malignant bone tumor arising from the remnants of the notochord and occurring in the base of the skull. It is characterized by a lobulated growth pattern, myxoid stroma formation, and the presence of physaliphorous cells.." "" + "obsolete chondroid chordoma" "" "true" + "obsolete dentinogenesis imperfecta" "" "true" + "primary syphilis" "The subclinical or symptomatic stage of syphilis, occurring at an average of three weeks after contact with an infected individual. It manifests with one or more painless, indurated ulcers (chancres) of the skin or mucous membranes at the site of inoculation. These lesions heal spontaneously within a few weeks." "" + "secondary syphilis" "The secondary stage of syphilis typically that is characterized by generalized rash (including palms and soles), mucocutaneous lesions, and lymphadenopathy. It usually begins one to two months after the primary stage." "" + "differentiating neuroblastoma" "A neuroblastoma in which the differentiating neuroblasts constitute more than five-percent of the tumor cells." "" + "cerebral neuroblastoma" "A neuroblastoma arising from the cerebral hemispheres." "" + "intracranial primitive neuroectodermal tumor" "A primitive neuroectodermal tumor that involves the brain." "" + "blood group incompatibility" "" + "obsolete pseudohypoparathyroidism" "" "true" + "echolalia" "A symptom of neurologic or psychiatric dysfunction in which the individual involuntarily and meaninglessly repeats a recently heard word, series of words, or a song." "" + "obsolete scleroderma" "" "true" + "peroneal neuropathy" "Disease involving the common peroneal nerve or its branches, the deep and superficial peroneal nerves. Lesions of the deep peroneal nerve are associated with paralysis of dorsiflexion of the ankle and toes and loss of sensation from the web space between the first and second toe. Lesions of the superficial peroneal nerve result in weakness or paralysis of the peroneal muscles (which evert the foot) and loss of sensation over the dorsal and lateral surface of the leg. Traumatic injury to the common peroneal nerve near the head of the fibula is a relatively common cause of this condition. (From Joynt, Clinical Neurology, 1995, Ch51, p31)" "" + "brain stem glioma" "A neuroglial tumor that arises from the brain stem." "" + "infratentorial cancer" "Malignant neoplasms which arise or occur within the intracranial cavity below the tentorium cerebelli. This includes neoplasms within the brain and/or surrounding spaces." "" + "cerebellar neoplasm" "A benign or malignant (primary or metastatic) tumor involving the cerebellum. -- 2003" "" + "childhood brain stem neoplasm" "A neoplasm that affects the brain stem and occurs during childhood." "" + "childhood infratentorial neoplasm" "A neoplasm that affects the infratentorial region of the brain and occurs during childhood." "" + "infratentorial neoplasm" "A benign or malignant neoplasm that occurs in brain parenchymal tissue below the tentorium cerebelli." "" + "brainstem intraparenchymal clear cell meningioma" "A morphologic variant of meningioma arising from the brain stem. It is characterized by the presence of clear glycogen-rich polygonal cells." "" + "clear cell meningioma" "A WHO grade II morphologic variant of meningioma characterized by the presence of clear glycogen-rich polygonal cells." "" + "posterior cranial fossa meningioma" "A meningioma that affects the posterior cranial fossa." "" + "malignant ovarian Brenner tumor" "A malignant neoplasm that arises from the ovary and is characterized by the presence of an invasive malignant transitional cell component and nests of benign transitional cells in a fibrotic stroma. When the neoplasm is confined to the ovary, the prognosis is good." "" + "congenital structural myopathy" "A group of rare genetic muscle disorders characterized by hypotonia, muscle weakness, and delayed development of motor skills." "" + "uterine corpus endometrial stromal sarcoma" "A uterine corpus sarcoma originating from the endometrial stroma. It is further subdivided into low grade and high grade endometrial stromal sarcoma." "" + "endometrioid stromal sarcoma" "A malignant mesenchymal neoplasm that affects the uterine corpus, and rarely, the ovaries, cervix, and vagina. In the uterine corpus it is classified as low grade or high grade endometrial stromal sarcoma. In the remainder of the anatomic sites it is classified as low grade endometrioid stromal sarcoma." "" + "uterine corpus sarcoma" "A malignant mesenchymal neoplasm arising from the wall of the uterine corpus (uterine body). The most representative examples are leiomyosarcoma and endometrial stromal sarcoma." "" + "smooth muscle cancer" "A malignant neoplasm arising from smooth muscle." "" + "smooth muscle tumor" "A benign or malignant myomatous neoplasm arising from smooth muscle." "" + "obsolete extraosseous Ewing's sarcoma" "" "true" + "clear cell sarcoma" "A rare malignant neoplasm with melanocytic differentiation characterized by the presence of polygonal or spindle shaped clear cells. This sarcoma usually affects the tendons and aponeuroses and is associated with a poor prognosis due to recurrences and metastases." "" + "malignant spindle cell neoplasm" "A malignant neoplasm characterized by the presence of atypical spindle cells." "" + "pulmonary immaturity" "" + "conjunctivochalasis" "" + "obsolete conjunctival disease" "" "true" + "intravascular angioleiomyoma" "A morphologic variant of angioleiomyoma characterized by the adherence of neoplastic smooth muscle cells to the walls of vascular channels." "" + "angioleiomyoma" "A benign, slow-growing neoplasm that arises from the dermis or subcutaneous tissue. It is characterized by the presence of well-differentiated smooth muscle cells which are arranged around numerous vessels." "" + "vascular neoplasm" "A benign, intermediate, or malignant neoplasm arising from vascular tissue including arteries, veins, venous sinuses, lymphatic vessels, arterioles and capillaries. It may occur in essentially any body location and is characterized by the presence of vascular channel formation and endothelial cells." "" + "penis basal cell carcinoma" "A basal cell carcinoma of the penis with an indolent clinical course. It is usually superficial and arises from the shaft and rarely the glans." "" + "skin basal cell carcinoma" "The most frequently seen skin cancer. It arises from basal cells of the epidermis and pilosebaceous units. Clinically it is divided into the following types: nodular, ulcerative, superficial, multicentric, erythematous, and sclerosing or morphea-like. More than 95% of these carcinomas occur in patients over 40. They develop on hair-bearing skin, most commonly on sun-exposed areas. Approximately 85% are found on the head and neck and the remaining 15% on the trunk and extremities. Basal cell carcinoma usually grows in a slow and indolent fashion. However, if untreated, the tumor may invade the subcutaneous fat, skeletal muscle and bone. Distant metastases are rare. Excision, curettage and irradiation cure most basal cell carcinomas." "" + "squamous cell carcinoma of penis" "A squamous cell carcinoma arising from the penis. It occurs chiefly in the squamous epithelium of the glans, coronal sulcus, and foreskin. Etiologic factors include phimosis, lichen sclerosus, smoking, ultraviolet irradiation, history of warts or condylomas, and lack of circumcision. Human papilloma virus is present in a subset of penile squamous cell carcinomas. Patients may present with an exophytic or flat ulcerative mass in the glans or a large primary tumor with inguinal nodal and skin metastases. Morphologic variants include the basaloid carcinoma, warty (condylomatous) carcinoma, verrucous carcinoma, and sarcomatoid (spindle cell) carcinoma. (WHO, 2004)" "" + "scrotum basal cell carcinoma" "A scrotal carcinoma that involves the basal cell." "" + "nodular basal cell carcinoma" "A basal cell carcinoma of the skin that often appears as elevated nodules which may become ulcerated." "" + "metatypical basal cell carcinoma" "A skin carcinoma displaying cytological characteristics intermediate to nodular basal cell carcinoma and squamous cell carcinoma." "" + "skin pigmented basal cell carcinoma" "A basal cell carcinoma that contains large amounts of melanin. The melanin is produced by symbiotic nontumoral proliferating melanocytes. - 2002." "" + "anal margin basal cell carcinoma" "A basal cell carcinoma arising from the perianal skin. Local excision is the treatment of choice. Metastases are extremely rare." "" + "sebaceous basal cell carcinoma" "" + "external ear basal cell carcinoma" "A basal cell carcinoma that arises from the skin of the external ear." "" + "external ear squamous cell carcinoma" "A squamous cell carcinoma that arises from the skin of the external ear." "" + "external ear carcinoma" "A carcinoma that arises from epithelial cells of the external ear" "" + "external ear cancer" "A malignant neoplasm involving the external ear." "" + "micronodular basal cell carcinoma" "A basal cell carcinoma of the skin characterized by the presence of small nodules that permeate the dermis. It presents as an elevated or flat infiltrating tumor, usually in the back." "" + "gynatresia" "A congenital or acquired occlusion of an opening in any part of the female genital tract." "" + "adamantinoid basal cell epithelioma" "" + "skin fibroepithelial basal cell carcinoma" "A variant of basal cell carcinoma presenting as an elevated or erythematous nodular lesion usually in the back. Morphologically, it is characterized by the presence of cords of basaloid cells extending from the epidermis into the dermis, creating a fenestrating pattern. It follows an indolent course." "" + "morpheaform basal cell carcinoma" "A histologic variant of basal cell carcinoma of the skin characterized by the presence of strands and nests of malignant cells that are embedded in a dense fibrotic stroma." "" + "skin clear cell basal cell carcinoma" "A morphologic variant of basal cell carcinoma characterized by the presence of clear cells." "" + "skin adenoid basal cell carcinoma" "A variant of basal cell carcinoma morphologically characterized by the presence of thin strands of basaloid cells forming a reticulate pattern." "" + "tonsil cancer" "A primary or metastatic malignant neoplasm that affects the tonsil." "" + "follicular basal cell carcinoma" "" + "skin infiltrative basal cell carcinoma" "A variant of basal cell carcinoma presenting as a pale, indurated plaque, usually in the upper trunk or face. Morphologically, it is characterized by the presence of strands, cords, and columns of basaloid cells infiltrating the dermis. Perineural invasion may be present and the basaloid cell infiltrate may extend into deeper tissues." "" + "superficial multifocal basal cell carcinoma" "A superficial basal cell carcinoma of the skin characterized by the presence of lobules of basaloid cells which are separated by large distances and represent multifocal discrete tumors." "" + "vulva basal cell carcinoma" "A slow growing, locally infiltrating carcinoma that arises from the vulva. It is characterized by the presence of malignant cells that resemble the basal cells that are present in the epidermis." "" + "skin cystic basal cell carcinoma" "" + "sarcomatoid basal cell carcinoma" "" + "sarcomatoid squamous cell carcinoma" "A poorly differentiated squamous cell carcinoma characterized by the presence of malignant cells with spindle cell features." "" + "signet ring basal cell carcinoma" "" + "radiculopathy" "Disease involving a spinal nerve root (see spinal nerve roots) which may result from compression related to intervertebral disk displacement; spinal cord injuries; spinal diseases; and other conditions. Clinical manifestations include radicular pain, weakness, and sensory loss referable to structures innervated by the involved nerve root." "" + "polyradiculopathy" "A radiculopathy that is present in more than one nerve." "" + "polyradiculoneuropathy" "Diseases characterized by injury or dysfunction involving multiple peripheral nerves and nerve roots. The process may primarily affect myelin or nerve axons. Two of the more common demyelinating forms are acute inflammatory polyradiculopathy (guillain-barre syndrome) and polyradiculoneuropathy, chronic inflammatory demyelinating. Polyradiculoneuritis refers to inflammation of multiple peripheral nerves and spinal nerve roots." "" + "large cell acanthoma" "" + "epidermolytic acanthoma" "A benign epithelial verrucous lesion of the skin. Morphologically, it is characterized by the presence of epidermolytic hyperkeratosis and papillomatosis." "" + "acantholytic acanthoma" "A benign epithelial neoplasm of the skin. It presents as a papular or nodular lesion. Morphologically, it is characterized by the presence of hyperkeratosis, acanthosis, papillomatosis, and prominent acantholysis." "" + "obsolete non-Langerhans-cell histiocytosis" "" "true" + "parovarian cyst" "A cyst (cysts) near the ovary, derived from anomalies of the fallopian tubes or the broad ligament. The paramesonephric type consists of ciliated cells similar to the oviduct epithelium. The mesonephric type consisted of an epithelium with minimally surface structures. They can be found on the thin oviduct (paratubal cysts) or near its fimbriated end (hydatid of Morgagni)." "" + "embryonic cyst of fallopian tube" "" + "splenic manifestation of prolymphocytic leukemia" "A prolymphocytic leukemia that involves the spleen." "" + "splenic manifestation of leukemia" "A leukemia (disease) that involves the spleen." "" + "dermatophytosis of scalp or beard" "Dermatophytosis involving the stratum corneum of the skin of the scalp and beard area." "" + "scalp disorder" "A disease or disorder that involves the scalp." "" + "lymphocele" "A cystic lesion containing lymph. It usually results from injury, gynecologic surgery, or urologic surgery." "" + "ciliary body cancer" "A malignant neoplasm involving the ciliary body." "" + "ciliary body neoplasm" "A neoplasm (disease) that involves the ciliary body." "" + "ciliary body disorder" "A disease involving the ciliary body." "" + "amelanotic melanoma" "A melanoma characterized by the complete absence of melanin pigment in the melanoma cells. It occurs more frequently on the face and it is often associated with desmoplastic reaction." "" + "posterior mediastinum cancer" "A malignant neoplasm involving the posterior mediastinum." "" + "epithelioid cell melanoma" "A melanoma characterized by the presence of malignant large epithelioid melanocytes." "" + "cervical cancer" "A primary or metastatic malignant neoplasm involving the cervix." "" + "malignant breast melanoma" "A melanoma that arises usually from the breast skin and less often from the breast glandular tissue. Primary breast melanomas are rare." "" + "stomach diverticulosis" "A pathological condition characterized by the presence of a number of gastric diverticula in the stomach." "" + "orbit alveolar rhabdomyosarcoma" "A malignant mesenchymal neoplasm that arises in the orbit. It is characterized by the presence of round cells with myoblastic differentiation and a fibrovascular stroma." "" + "papillary squamous carcinoma" "A well differentiated squamous cell carcinoma characterized by a papillary, exophytic growth pattern and hyperkeratosis. The most commonly affected anatomic sites are the larynx, penis, cervix, vagina, and vulva." "" + "obsolete myofibroma" "" "true" + "peripheral primitive neuroectodermal tumor of bone" "A small round cell tumor with neural differentiation arising from the bone. It may be associated with pain." "" + "peripheral primitive neuroectodermal tumor" "A small round cell tumor with neural differentiation arising from the soft tissues or bone." "" + "peripheral primitive neuroectodermal tumor of soft tissues" "A small round cell tumor with neural differentiation arising from the soft tissues." "" + "extraskeletal Ewing sarcoma/peripheral primitive neuroectodermal tumor" "A spectrum of malignant tumors arising from the soft tissues, characterized morphologically by the presence of small round cells. Ewing sarcoma and peripheral primitive neuroectodermal tumor represent the ends of a spectrum, with Ewing sarcoma lacking evidence of neural differentiation and the markers that characterize the peripheral primitive neuroectodermal tumor. Ewing sarcoma and peripheral primitive neuroectodermal tumor may share cytogenetic abnormalities, proto-oncogene expression, cell culture and immunohistochemical abnormalities. Pain and the presence of a mass are the most common clinical symptoms." "" + "extraskeletal Ewing sarcoma" "A rare malignant neoplasm of the soft tissues. It is typically a disease of children and young adults. Most commonly occurs in the paravertebral region, chest wall, pelvis and lower extremities. Treatment includes local excision with consideration for post-operative chemotherapy and/or radiotherapy." "" + "obsolete neuromuscular junction disease" "" "true" + "reticulohistiocytic granuloma" "A rare cutaneous lesion composed of eosinophilic histiocytes, which are often multinucleated. The lesions are yellow-brown papules affecting any part of the body. Patients are usually adult men. The prognosis is excellent. -- 2003" "" + "obsolete pustulosis of palm and sole" "" "true" + "obsolete neuromuscular disease" "" "true" + "spongiotic dermatitis" "A chronic inflammatory skin condition characterized by itchiness and a rash in the chest and abdominal areas. It affects males more than females and is usually contracted at a relatively young age. It is thought to be caused by an allergic reaction to food, insect bites, or medication." "" + "cervix melanoma" "An aggressive malignant tumor of melanocytic origin that arises from the cervix." "" + "benign fibrous histiocytoma" "A benign neoplasm composed of fibroblastic spindle cells in a whorled storiform pattern. It is characterized by the presence of foam cells, inflammatory cells, hemosiderin deposition and stromal hemorrhage." "" + "benign deep fibrous histiocytoma" "A rare, well-circumscribed, pseudo-encapsulated benign fibrous histiocytoma that arises entirely within the subcutaneous tissue or deep soft tissue. It usually affects the extremities or the head and neck region. It recurs locally in a minority of cases." "" + "adenocarcinofibroma" "A carcinoma arising from the ovary. It is characterized by the presence of malignant epithelial cells in a fibrotic stroma. Histologic variants include clear cell, serous, mucinous, and endometrioid adenocarcinofibroma." "" + "obsolete juvenile xanthogranuloma" "" "true" + "pancreatic somatostatinoma" "A neuroendocrine tumor arising from the delta cells of the pancreas. It is characterized by inappropriate secretion of somatostatin and associated with diabetes mellitus, hypochlorhydria, gallbladder disease, diarrhea, steatorrhea, anemia, and weight loss." "" + "pancreatic delta cell neuroendocrine tumor" "A usually malignant neuroendocrine tumor arising from the delta cells of the pancreas. It may be associated with inappropriate secretion of somatostatin and an associated clinical syndrome, or it may be hormonally inactive (non-functioning)." "" + "pancreatic neuroendocrine tumor" "Pancreatic endocrine tumor, also known as pancreatic neuroendocrine tumor (PNET), describes a group of endocrine tumors originating in the pancreas that are usually indolent and benign, but may have the potential to be malignant. They can be functional, exhibiting a hormonal hypersecretion syndrome, but can be non-functional presenting with non-specific symptoms and include insulinoma, glucagonoma, VIPoma, somatostatinoma (SSoma), PPoma and Zollinger-Ellison syndrome (ZES, or gastrinoma) and other ectopic hormone producing tumors (such as GRFoma)." "" + "small intestine neuroendocrine neoplasm" "A neoplasm with neuroendocrine differentiation that arises from the small intestine. It includes well differentiated neuroendocrine tumors (low and intermediate grade) and poorly differentiated neuroendocrine carcinomas (high grade)." "" + "cavernous sinus meningioma" "A meningioma that affects the cavernous sinus." "" + "skull base meningioma" "A meningioma that arises from the skull base." "" + "anterior cranial fossa meningioma" "A meningioma that affects the anterior cranial fossa." "" + "extragonadal germinoma" "" + "germ cell tumor" "A benign or malignant, gonadal or extragonadal neoplasm that originates from germ cells. Representative examples include teratoma, seminoma, embryonal carcinoma, and yolk sac tumor." "" + "extragonadal germ cell tumor" "A germ cell tumor arising in an anatomic site other than the testis or ovary (e.g., central nervous system, lung, mediastinum, and retroperitoneum)." "" + "seminoma" "A radiosensitive malignant germ cell tumor found in the testis (especially undescended), and extragonadal sites (anterior mediastinum and pineal gland). It is characterized by the presence of uniform cells with clear or dense cytoplasm which contains glycogen, and by a large nucleus which contains one or more nucleoli. The neoplastic germ cells form aggregates separated by fibrous septa. The fibrous septa contain chronic inflammatory cells, mainly lymphocytes." "" + "dysgerminoma" "A malignant germ cell tumor characterized by the presence of a monotonous primitive germ cell population. The neoplastic cells form aggregates and have an abundant pale cytoplasm and uniform nuclei. The aggregates of the germ cells are separated by fibrous septa which contain inflammatory cells, mostly T-lymphocytes. It arises primarily in the ovaries, but can occur both primarily and secondarily at other sites, particularly the central nervous system. It responds to chemotherapy and radiotherapy. Its prognosis is related to the tumor stage." "" + "cervical alveolar soft part sarcoma" "An alveolar soft part sarcoma arising from the cervix." "" + "alveolar soft part sarcoma" "An alveolar soft part sarcoma occurring in adults. The most common site of involvement is the extremity, particularly the deep soft tissues of the thigh." "" + "sarcoma of cervix uteri" "A sarcoma involving a uterine cervix." "" + "macular retinal edema" "Accumulation of intraretinal fluid and protein in the macula, which may result in swelling and decreased central vision." "" + "retinal edema" "" + "obsolete Bartter disease" "" "true" + "childhood kidney cell carcinoma" "A renal cell carcinoma that occurs during childhood." "" + "renal cell carcinoma" "A carcinoma that arises from glandular epithelial cells of the kidney" "" + "renal cell adenocarcinoma" "A carcinoma arising from the renal parenchyma. There is a strong correlation between cigarette smoking and the development of renal cell carcinoma. The clinical presentation includes : hematuria, flank pain and a palpable lumbar mass. A high percentage of renal cell carcinomas are diagnosed when an ultrasound is performed for other purposes. Radical nephrectomy is the standard intervention procedure. Renal cell carcinoma is generally considered to be resistant to radiation treatment and chemotherapy." "" + "childhood malignant kidney neoplasm" "A malignant neoplasm that affects the kidney and occurs in childhood." "" + "hereditary renal cell carcinoma" "An instance of renal cell carcinoma (disease) that is caused by an inherited modification of the individual's genome." "" + "hyperaldosteronism" "Overproduction of aldosterone by the adrenal glands, which may lead to hypokalemia and/or hypernatremia." "" + "adrenal gland hyperfunction" "Excess production of adrenal cortex hormones." "" + "multilocular clear cell renal cell carcinoma" "A rare type of renal cell carcinoma. It is a well-circumscribed multicystic mass without solid areas. The inner lining of the cystic structures is composed of clear cells." "" + "clear cell renal carcinoma" "A malignant epithelial neoplasm of the kidney characterized by the presence of lipid-containing clear cells within a vascular network. The tumor may metastasize to unusual sites and late metastasis is common." "" + "mucinous tubular and spindle renal cell carcinoma" "A low grade carcinoma of the kidney characterized by the presence of tubules which are separated by mucinous stroma. Often the tubular structures have a spindle cell appearance. Patients are usually asymptomatic and occasionally they may present with hematuria or flank pain." "" + "sarcomatoid renal cell carcinoma" "A high grade carcinoma of the kidney. It is not a distinct clinicopathological entity and includes a diverse group of renal cell carcinomas which have been transformed from a lower to a higher grade." "" + "obsolete pseudohypoaldosteronism" "" "true" + "rhinitis" "An inflammation of the mucous membrane lining the nose, usually associated with nasal discharge." "" + "obsolete malignant biphasic mesothelioma" "" "true" + "obsolete sarcomatoid mesothelioma" "" "true" + "malignant peritoneal solitary fibrous tumor" "A malignant form of peritoneal solitary fibrous tumor." "" + "peritoneal solitary fibrous tumor" "A rare, usually benign fibroblastic neoplasm that arises from the peritoneum. It is characterized by the presence of prominent hemangiopericytoma-like vessels." "" + "obsolete myotonic disease" "" "true" + "potassium deficiency disease" "Any disorder caused by an insufficient amount or availability of potassium, which generally manifests with myalgia, tetany, hypotension, polyuria, and polydipsia." "" + "nutritional disorder" "Any condition related to a disturbance between proper intake and utilization of nourishment." "" + "obsolete orofaciodigital syndrome" "" "true" + "central nervous system angiosarcoma" "A malignant vascular neoplasm arising from the brain, spinal cord or meninges." "" + "pediatric angiosarcoma" "An angiosarcoma occurring in childhood." "" + "aorta angiosarcoma" "A malignant vascular neoplasm arising from the aorta." "" + "aortic malignant tumor" "A cancer that involves the aorta." "" + "breast angiosarcoma" "A malignant vascular neoplasm arising from the breast." "" + "conventional angiosarcoma" "An angiosarcoma characterized by the presence of malignant spindle endothelial cells." "" + "gallbladder angiosarcoma" "An angiosarcoma that is located in the gallbladder." "" + "thyroid gland angiosarcoma" "A usually aggressive malignant vascular tumor primarily involving the thyroid gland. It is often associated with longstanding nodular goiter." "" + "thyroid sarcoma" "A malignant soft tissue neoplasm primarily involving the thyroid gland." "" + "skin angiosarcoma" "A malignant vascular neoplasm arising from the skin." "" + "endometrioid stromal sarcoma of the cervix" "A rare sarcoma that arises from the cervix. This category includes low grade endometrioid stromal sarcoma and undifferentiated endocervical sarcoma." "" + "endometrioid stromal and related neoplasms of the cervix" "A category of rare neoplasms that arise from the cervix. It includes low grade endometrioid stromal sarcoma and undifferentiated endocervical sarcoma." "" + "superior vena cava angiosarcoma" "A malignant vascular neoplasm arising from the superior vena cava." "" + "great vessel cancer" "A malignant neoplasm arising from the great vessels." "" + "prostate angiosarcoma" "A malignant vascular neoplasm arising from the prostate." "" + "mediastinum angiosarcoma" "A malignant vascular neoplasm arising from the mediastinum." "" + "ovarian angiosarcoma" "A malignant vascular neoplasm arising from the ovary." "" + "cystic, mucinous, and serous neoplasm" "Neoplasms containing cyst-like formations or producing mucin or serum." "" + "dysgraphia" "Loss or impairment of the ability to write (letters, syllables, words, or phrases) due to an injury to a specific cerebral area or occasionally due to emotional factors. This condition rarely occurs in isolation, and often accompanies aphasia. (From Adams et al., Principles of Neurology, 6th ed, p485; apa, Thesaurus of Psychological Index Terms, 1994)" "" + "nominal aphasia" "Impaired ability to retrieve words; in particular, an inability to recall the names of objects and people." "" + "retrograde amnesia" "The loss of access to memories that were previously encoded; this disorder is most commonly preceded by trauma, including physical brain injury, stroke, or seizure, but may also be psychogenic in origin. Memory loss may be temporary or permanent, but the ability to encode new memories or skills is not generally affected." "" + "pediatric mesenchymal chondrosarcoma" "A mesenchymal chondrosarcoma occurring in children." "" + "mesenchymal chondrosarcoma" "A morphologic variant of chondrosarcoma arising from bone and soft tissue. It is characterized by the presence of malignant small round cells, biphasic growth pattern, and well differentiated hyaline cartilage. Clinical presentation includes pain and swelling. The clinical course is aggressive, with local recurrences and distant metastases." "" + "adult mesenchymal chondrosarcoma" "A mesenchymal chondrosarcoma occurring in adults." "" + "obsolete extraskeletal mesenchymal chondrosarcoma" "A rare malignant tumor of soft tissue characterized by a bimorphic pattern composed of undifferentiated small round cells and islands of well differentiated hyaline cartilage." "" "true" + "obsolete extraosseous chondrosarcoma" "A chondrosarcoma that is located in exclusively soft tissue." "" "true" + "anal gland neoplasm" "Tumors or cancer of the anal gland." "" + "thymic large cell neuroendocrine carcinoma" "An aggressive, non-small cell, poorly differentiated thymic neuroendocrine carcinoma, characterized by the presence of a high mitotic rate and, almost always, necrosis." "" + "large cell neuroendocrine carcinoma" "A usually aggressive carcinoma composed of large malignant cells which display neuroendocrine characteristics. It is characterized by the presence of high mitotic activity and necrotic changes. The vast majority of cases are positive for neuron-specific enolase. Representative examples include lung, breast, cervical, and thymic neuroendocrine carcinomas." "" + "thymic neuroendocrine carcinoma" "Thymic neuroendocrine carcinoma is a type of thymic epithelial neoplasm displaying evidence of neuroendocrine differentiation." "" + "obsolete type C thymoma" "" "true" + "ovarian large-cell neuroendocrine carcinoma" "A carcinoma that arises from the ovary and is characterized by the presence of large malignant cells exhibiting neuroendocrine differentiation. The prognosis is poor." "" + "lung large cell carcinoma" "A poorly differentiated non-small cell lung carcinoma composed of large polygonal cells without evidence of glandular or squamous differentiation. There is a male predilection." "" + "large cell carcinoma" "A malignant epithelial neoplasm composed of large, atypical cells." "" + "non-small cell lung carcinoma" "A group of at least three distinct histological types of lung cancer, including non-small cell squamous cell carcinoma, adenocarcinoma, and large cell carcinoma. Non-small cell lung carcinomas have a poor response to conventional chemotherapy." "" + "non specific chronic endometritis" "Chronic endometritis characterized by the presence of plasmacytic infiltrates in the endometrium. There are no granulomas present." "" + "chronic endometritis" "A non-granulomatous or granulomatous chronic inflammation of the endometrium. Causes include sexually transmitted pathogens and gynecological procedures. Patients may present with irregular bleeding." "" + "granulomatous endometritis" "Chronic inflammation of the endometrium characterized by the presence of epithelioid granulomas. Causes include tuberculosis, fungal infections, parasitic infections, and sarcoidosis." "" + "choroid plexus meningioma" "A meningioma that affects the choroid plexus." "" + "benign meningioma" "A grade I, slowly growing meningioma. Only a minority of tumors recur following complete resection." "" + "benign neoplasm of meninges" "A benign neoplasm that involves the meningeal cluster." "" + "secretory meningioma" "A WHO grade I meningioma characterized by the presence of epithelial differentiation and numerous intracellular PAS positive bodies that are rich in glycogen." "" + "lymphoplasmacyte-rich meningioma" "A WHO grade I meningioma characterized by the presence of prominent chronic inflammatory infiltrates that predominate over the meningioma cells." "" + "pediatric meningioma" "A meningioma that occurs during childhood." "" + "microcystic meningioma" "A WHO grade I meningioma characterized by the presence of intercellular microcystic spaces that contain mucinous fluid." "" + "biliary tract cancer" "A malignant neoplasm involving the biliary tree" "" + "bile duct neoplasm" "A benign or malignant neoplasm that affects the intrahepatic or extrahepatic bile ducts. Representative examples of benign neoplasms include bile duct adenoma and extrahepatic bile duct lipoma. Representative examples of malignant neoplasms include intrahepatic and extrahepatic cholangiocarcinoma." "" + "myomatous neoplasm" "A benign or malignant mesenchymal neoplasm arising from smooth, skeletal, or cardiac muscle." "" + "intestinal benign neoplasm" "A benign neoplasm that involves the intestine." "" + "obsolete hydranencephaly" "" "true" + "inverted transitional cell papilloma" "A benign papillary neoplasm composed of transitional cells and characterized by an endophytic growth pattern." "" + "transitional cell papilloma" "A benign papillary neoplasm composed of transitional cells which show preservation of the nuclear polarity." "" + "nasal cavity inverting papilloma" "A benign neoplasm that arises from the ciliated respiratory mucosa that lines the nasal cavity. It results from the invagination and proliferation of epithelial cells in the underlying stroma. Clinical manifestations include nasal obstruction, epistaxis, and anosmia. It has the tendency to recur and extend to adjacent structures. Inverted papillomas are occasionally associated with the development or presence of carcinomas, usually squamous cell carcinomas." "" + "submandibular adenitis" "Inflammation of the submandibular lymph nodes." "" + "cervical lymphadenitis" "Inflammation of the cervical lymph nodes." "" + "sialadenitis" "Sialadenitis is an infection of the salivary glands. It is usually caused by a virus or bacteria. The parotid (in front ofthe ear) and submandibular (under the chin) glands are most commonly affected. Sialadenitis may be associated with pain, tenderness, redness, and gradual, localized swelling of the affected area. Sialadenitis most commonly affects the elderly and chronically ill especially those with dry mouth or who are dehydrated, but can also affected people of any age including newborn babies. Diagnosis is usually made by clinical exam but a CT scan, MRI scan or ultrasound may be done if the doctor suspects an abscess or to look for stones. Treatment may include an antibiotic (if bacterial), warm compresses, increasing fluid intake and good oral hygiene. Most salivary gland infections go away on their own or are cured with treatment. Complications are not common." "" + "postauricular lymphadenitis" "Inflammation of the postauricular lymph nodes." "" + "suppurative lymphadenitis" "A form of lymphadenitis that is characterized by formation of pus; it is most often caused by staphylococcal or streptococcal bacteria." "" + "axillary lymphadenitis" "An infection of the lymph nodes in the axilla." "" + "obsolete epidermolysis bullosa simplex" "" "true" + "retinal cancer" "A malignant neoplasm involving the retina." "" + "retina neoplasm" "A neoplasm (disease) that involves the retina." "" + "trilateral retinoblastoma" "Trilateral retinoblastoma refers to bilateral (or less often unilateral) retinoblastoma associated with an intracranial primitive neuroectodermal tumor in the pineal or suprasellar region. This syndrome is often associated with a increased familial incidence of retinoblastoma. (From Cancer 86(1): 135-141, 1999)." "" + "retinoblastoma" "A malignant tumor that originates in the nuclear layer of the retina. As the most common primary tumor of the eye in children, retinoblastoma is still relatively uncommon, accounting for only 1% of all malignant tumors in pediatric patients. Approximately 95% of cases are diagnosed before age 5. These tumors may be multifocal, bilateral, congenital, inherited, or acquired. Seventy-five percent of retinoblastomas are unilateral; 60% occur sporadically. A predisposition to retinoblastoma has been associated with 13q14 cytogenetic abnormalities. Patients with the inherited form also appear to be at increased risk for secondary nonocular malignancies such as osteosarcoma, malignant fibrous histiocytoma, and fibrosarcoma." "" + "obsolete familial retinoblastoma" "" "true" + "bilateral retinoblastoma" "Retinoblastoma involving both eyes. This occurs in the majority of patients with the inherited variant. A minority of patient with bilateral retinoblastoma were found to have involvement of the pineal gland as well." "" + "unilateral retinoblastoma" "A retinoblastoma that only involves a single eye." "" + "intraocular retinoblastoma" "Retinoblastoma restricted to local involvement." "" + "extraocular retinoblastoma" "Retinoblastoma that has spread beyond the eye e.g. to brain, soft tissue/bone, bone marrow." "" + "mastocytoma" "A localized tumor composed of sheets of mast cells without atypia. It includes the cutaneous mastocytoma which involves the dermis and subcutaneous tissue, and the extracutaneous mastocytoma. Most cases of extracutaneous mastocytoma have been reported in the lung." "" + "obsolete indolent systemic mastocytosis" "" "true" + "filamentary keratitis" "" + "venous hemangioma" "A rare slow growing benign tumor of aberrant and ectatic venous connections." "" + "congenital anomaly of cardiovascular system" "A disease that has its basis in the disruption of cardiovascular system development." "" + "uremic neuropathy" "Neuropathy resulting from uremia." "" + "uremia" "A clinical syndrome associated with the retention of renal waste products or uremic toxins in the blood. It is usually the result of renal insufficiency. Most uremic toxins are end products of protein or nitrogen catabolism, such as urea or creatinine. Severe uremia can lead to multiple organ dysfunctions with a constellation of symptoms." "" + "thymic mucoepidermoid carcinoma" "A rare primary thymic carcinoma, characterized by the presence of squamous cells, intermediate type cells, and mucus-producing cells. Published information on clinical course is limited to single-case reports." "" + "thymus gland adenocarcinoma" "A rare primary thymic carcinoma, characterized by the presence of carcinoma cells with glandular differentiation." "" + "mucoepidermoid breast carcinoma" "A carcinoma of the breast characterized by pools of mucin and islands of malignant squamous cells. Mucoepidermoid carcinomas of the breast are extremely rare." "" + "metaplastic breast carcinoma" "A group of invasive breast carcinomas characterized by the presence of an adenocarcinomatous component which is admixed with a dominant component that is composed of squamous cells, spindle cells, or mesenchymal cells." "" + "intramuscular hemangioma" "A hemangioma arising from skeletal muscle." "" + "deep hemangioma" "A hemangioma arising from the deep soft tissues." "" + "extrahepatic bile duct mucoepidermoid carcinoma" "A mucoepidermoid carcinoma that arises from the extrahepatic bile ducts." "" + "cutaneous mucoepidermoid carcinoma" "A mucoepidermoid carcinoma that involves the zone of skin." "" + "lacrimal gland mucoepidermoid carcinoma" "An extremely rare carcinoma that arises from the lacrimal gland. It is characterized by the presence of infiltrating nests of epidermoid cells and mucus producing cells." "" + "mucoepidermoid esophageal carcinoma" "A rare carcinoma of the esophagus which contains squamous cells, mucus secreting cells, and cells of an intermediate type. (WHO)" "" + "esophageal adenocarcinoma" "A malignant tumor with glandular differentiation arising predominantly from Barrett mucosa in the lower third of the esophagus. Rare examples of esophageal adenocarcinoma deriving from ectopic gastric mucosa in the upper esophagus have also been reported. Grossly, esophageal adenocarcinomas are similar to esophageal squamous cell carcinomas. Microscopically, adenocarcinomas arising in the setting of Barrett esophagus are typically papillary and/or tubular. The prognosis is poor." "" + "obsolete mucoepidermoid thyroid carcinoma" "" "true" + "laryngeal mucoepidermoid carcinoma" "A rare mucoepidermoid carcinoma of the larynx. It usually arises from the supraglottic area. Hoarseness and dysphagia are the presenting symptoms." "" + "childhood mediastinal neurogenic neoplasm" "" + "neoplasm of mediastinum" "A neoplasm (disease) that involves the mediastinum." "" + "obsolete endophthalmitis" "" "true" + "nerve plexus neoplasm" "A neoplasm (disease) that involves the nerve plexus." "" + "obsolete intraneural perineurioma" "" "true" + "obsolete perineurioma" "" "true" + "nerve root neoplasm" "Benign and malignant neoplasms arising from one or more of the cervical, thoracic, lumbar, sacral, or coccygeal nerve roots. The majority of these tumors are benign. Clinical manifestations may include pain, weakness and loss of sensation along the course of the involved nerve root. Large tumors may cause spinal cord compression." "" + "epicardium cancer" "A malignant neoplasm involving the epicardium." "" + "neoplasm of epicardium" "A neoplasm (disease) that involves the epicardium." "" + "obsolete verrucous keratotic hemangioma" "" "true" + "cervicomedullary junction neoplasm" "" + "foramen magnum meningioma" "A meningioma that affects the foramen magnum." "" + "gastric neuroendocrine neoplasm" "A neoplasm with neuroendocrine differentiation that arises from the stomach. It includes well differentiated neuroendocrine tumors (low and intermediate grade) and poorly differentiated neuroendocrine carcinomas (high grade)." "" + "malignant gastric germ cell tumor" "A malignant germ cell tumor that arises from the stomach. It includes choriocarcinoma and immature teratoma." "" + "obsolete bone giant cell sarcoma" "" "true" + "subglottic hemangioma" "A hemangioma arising from the subglottic area." "" + "benign neoplasm of subglottis" "A benign neoplasm that involves the subglottis." "" + "obsolete calciphylaxis" "" "true" + "testicular Brenner tumor" "An uncommon usually benign neoplasm that arises from the testis. It is characterized by the presence of cysts lined by transitional cells and solid nests of transitional cells in a spindle cell stroma." "" + "obsolete histiocytoid hemangioma" "" "true" + "mixed testicular germ cell cancer" "A malignant germ cell tumor that arises from the testis and is characterized by the presence of more than one histologic component. Representative examples include mixed choriocarcinoma and embryonal carcinoma, mixed embryonal carcinoma and seminoma, and mixed yolk sac tumor and teratoma." "" + "malignant testicular germ cell tumor" "A malignant tumor predominantly affecting young men and often associated with cryptorchidism. Seminoma is the most frequently seen malignant testicular germ cell tumor, followed by embryonal carcinoma and yolk sac tumor." "" + "middle cranial fossa meningioma" "A meningioma that affects the middle cranial fossa." "" + "multiple system atrophy" "Multiple system atrophy (MSA) is a neurodegenerative disorder characterized by autonomic failure (cardiovascular and/or urinary), parkinsonism, cerebellar impairment and corticospinal signs with a median survival of 6-9 years." "" + "obsolete multiple system atrophy" "" "true" + "testicular Leydig cell tumor" "A sex cord-stromal tumor that arises from the testis and is characterized by the presence of cells that resemble the successive stages of development of Leydig cells. It usually presents as a painless testicular mass. Gynecomastia is present in approximately thirty percent of the cases. Libido may be decreased. In children, precocious puberty may be present. A minority of cases exhibit malignant characteristics." "" + "tumor of testis and paratestis" "" + "breast hemangioma" "A capillary or cavernous hemangioma arising from the breast." "" + "embryoma" "True" + "classic pulmonary blastoma" "A pulmonary blastoma composed of a mixture of irregular tubular structures and mesenchymal elements." "" + "pulmonary blastoma" "A malignant neoplasm of the lung composed of tubular structures and immature mesenchymal elements, which may differentiate towards skeletal and smooth muscle, cartilage or a combination of muscle and cartilage. This is a nodular tumor found in the periphery of the lung. It can occur at any age. The prognosis is related to the stage of the disease at the time of resection. Pulmonary blastoma is divided into two subtypes: epithelial predominant and biphasic." "" + "epithelial predominant pulmonary blastoma" "A non-encapsulated, well defined pulmonary blastoma, composed of irregular tubular structures. It affects mostly middle-aged adults and it is rare in children. The prognosis is better compared to the biphasic pulmonary blastoma." "" + "mesoblastic nephroma" "A solid, unencapsulated tumor of the kidney composed of spindle mesenchymal cells that resemble fibroblasts or muscle cells. The homogeneous mass typically extends into the renal parenchyma and replaces most of the kidney. In most cases, mesoblastic nephroma is benign and occurs in the fetus or newborn, and rarely in the older child or the adult." "" + "obsolete congenital mesoblastic nephroma" "" "true" + "obsolete rapidly progressive glomerulonephritis" "" "true" + "exudative glomerulonephritis" "Inflammation of the glomeruli with infiltration by polymorphonuclear leukocytes." "" + "focal embolic glomerulonephritis" "Inflammation of a specific segment of glomeruli, which is associated with subacute bacterial endocarditis, and frequently produces microscopic hematuria without azotemia." "" + "anti-basement membrane glomerulonephritis" "Inflammation of the glomeruli secondary to presence of autoantibodies directed at specific antigenic targets within the glomerular basement membrane, causing hematuria, proteinuria, and impaired renal function." "" + "subacute glomerulonephritis" "A term that refers to glomerular damage resulting in hematuria, proteinuria, and azotemia. The histopathologic changes include rapidly progressive glomerulonephritis and membranoproliferative glomerulonephritis." "" + "mesangial proliferative glomerulonephritis" "Mesangial proliferative glomerulonephritis (MPGN) is a condition that affects the kidneys. Many experts consider it a variant of minimal change disease, but some experts believe it is a separate condition. It may present with nephrotic syndrome, which is a group of symptoms that include protein in the urine (proteinuria), low blood protein levels, high cholesterol levels, high triglyceride levels, and swelling. It can also present with blood in the urine (hematuria). MPGN is characterized by an increased number of mesangial cells in the glomeruli in the kidneys and damage to the glomeruli. Glomeruli are the structures that help filter wastes and fluids. MPGN may occur in several renal diseases such as IgA nephropathy (commonly), IgM nephropathy, lupus nephritis, and C1q nephropathy.However, in some cases, the underlying cause of MPGN remains unclear. Treatment may depend on the cause (if known) and may include steroids, mycophenolate mofetil, and/or cyclophosphamide, and other therapies to treat specific symptoms. Most people with MPGN have a good prognosis, but some may develop chronic kidney disease, which can progress to end stage renal failure." "" + "immune-complex glomerulonephritis" "Inflammation of the glomeruli characterized by the accumulation of antibody-antigen immune complexes, resulting in glomerular damage and impaired kidney function." "" + "cerebellopontine angle embryonal tumor" "A central nervous system embryonal tumor, not otherwise specified arising from the cerebellopontine angle of the infratentorial brain." "" + "medulloepithelioma" "A rare, usually aggressive malignant embryonal neoplasm of the central nervous system occurring in children. It is characterized by the presence of neuroepithelial cells which form papillary, trabecular, or tubular structures and absence of C19MC amplification. Symptoms include headache, nausea, and vomiting." "" + "central nervous system Ewing sarcoma/peripheral primitive neuroectodermal tumor" "A rare Ewing sarcoma/peripheral primitive neuroectodermal tumor that affects the central nervous system either as a primary dural neoplasm or by direct extension from adjacent soft tissues or bone." "" + "supratentorial primitive neuroectodermal tumor" "A central nervous system embryonal tumor, not otherwise specified arising from the supratentorial region." "" + "obsolete ependymoblastoma" "" "true" + "space motion sickness" "Disorder characterized by nausea, vomiting, and dizziness, possibly in response to vestibular disorientation or fluid shifts associated with space flight. (From Webster's New World Dictionary)" "" + "motion sickness" "A sensation of discomfort that results from a discordant relationship between visualized movement and any movement sensed by the vestibular system, which is characterized by dizziness, nausea, and vomiting." "" + "obsolete SM-AHNMD" "" "true" + "obsolete aggressive systemic mastocytosis" "" "true" + "obsolete movement disease" "" "true" + "adult brainstem gliosarcoma" "" + "adult brainstem glioma" "A brain stem glioma that occurs in an adult." "" + "adult brain stem neoplasm" "A brainstem neoplasm that occurs in an adult." "" + "hemangioma of peripheral nerve" "A hemangioma arising from the peripheral nerves." "" + "obsolete adenosquamous carcinoma" "" "true" + "disappearing bone disease" "Syndromes of bone destruction where the cause is not obvious such as neoplasia, infection, or trauma. The destruction follows various patterns: massive (Gorham disease), multicentric (hajdu-cheney syndrome), or carpal/tarsal." "" + "malignant myoepithelioma" "An infiltrating malignant tumor characterized by the presence of atypical cells with myoepithelial differentiation. Representative examples include malignant breast myoepithelioma and salivary gland myoepithelial carcinoma." "" + "obsolete sebaceous carcinoma" "An adenocarcinoma with sebaceous differentiation. It presents as a painless mass and it may be multifocal. It grows in the ocular adnexae and in the skin of head and neck, trunk, genitals, and extremities. It is characterized by the presence of malignant cells with multivesicular and clear cytoplasm. It may recur and metastasize." "" "true" + "obsolete benign ependymoma" "" "true" + "obsolete pilomyxoid astrocytoma" "" "true" + "cauda equina intradural extramedullary astrocytoma" "" + "cauda equina neoplasm" "A neoplasm involving a cauda equina." "" + "cerebellar astrocytoma" "Benign and malignant neoplasms of the cerebellum that arise from astrocytes. During childhood the majority are benign pilocytic astrocytomas. In adults both benign and relatively higher grade forms may occur. The most common presenting symptoms are headache, nausea, vomiting, ataxia of gait or limb, paresis, diplopia, and dizziness. Objective signs include weakness, long tract signs, dysmetria, gait ataxia, papilledema, and nystagmus. Surgical resection is often curative." "" + "brain astrocytoma" "A astrocytoma (excluding glioblastoma) that involves the brain." "" + "obsolete pilocytic astrocytoma" "" "true" + "obsolete pleomorphic xanthoastrocytoma" "" "true" + "cerebellar pilocytic astrocytoma" "A WHO Grade 1 astrocytoma which arises in the cerebellum. The tumor is composed of spindle shaped cells with numerous collections of reddish astrocytic fibers called Rosenthal fibers. Over 80% or the cerebellar astrocytomas of childhood are pilocytic. Pilocytic astrocytomas may rarely occur in adults. They are usually treated by surgical resection and in most cases have a favorable prognosis." "" + "pilocytic astrocytoma" "Pilocytic astrocytoma is a rare subtype of low-grade glioma of the central nervous system characterized by a well circumscribed, often cystic, brain tumor with a discrete mural nodule and long, hair-like projections that extend from the neoplastic astrocytes. Depending on the primary localization and the size of the tumor, patients can present with signs of raised intracranial pressure (headache, vomiting, papilledema), blurred vision, decreased visual acuity, ataxia and/or nystagmus, among others. It is most commonly located in the cerebellum, but ocurrence in the hypothalamus, brain stem, optic chiasma, and hemispheres has also been reported." "" + "benign neoplasm of cerebellum" "A benign neoplasm that involves the cerebellum." "" + "diencephalic astrocytomas" "A astrocytoma that involves the diencephalon." "" + "gliofibroma" "An astrocytic tumor affecting young people. Morphologically, it is characterized by the presence of collagenous tissue surrounding neoplastic astrocytes. In some cases the collagen is produced by the tumor cells (desmoplastic astrocytoma), whereas in others it is produced by mesenchymal cells (mixed glioma/fibroma)." "" + "pineal gland astrocytoma" "A astrocytoma that involves the pineal body." "" + "glomeruloid hemangioma" "" + "brain stem astrocytic neoplasm" "An astrocytoma that arises from the brain stem." "" + "spinal cord astrocytoma" "A low or high grade astrocytoma that arises in the spinal cord." "" + "salivary gland adenoid cystic carcinoma" "An adenoid cystic carcinoma arising from the salivary gland. It is characterized by the presence of epithelial and myoepithelial cells forming tubular, cribriform, and solid patterns. It usually presents as a slow growing mass. Patients may experience pain because of the tumor propensity for perineural invasion. The tumor may follow an aggressive clinical course with recurrences and mestastases to distant sites including lungs, bones, brain, and liver." "" + "obsolete cervical adenoid cystic carcinoma" "" "true" + "prostate adenoid cystic carcinoma" "An adenoid cystic carcinoma that arises from the prostate gland." "" + "obsolete laryngeal adenoid cystic carcinoma" "" "true" + "obsolete lacrimal gland adenoid cystic carcinoma" "" "true" + "cutaneous adenocystic carcinoma" "A adenoid cystic carcinoma that involves the skin of body." "" + "sweat gland carcinoma" "A carcinoma arising from the sweat glands. Representative examples include tubular carcinoma, spiradenocarcinoma, eccrine carcinoma, hidradenocarcinoma, and apocrine carcinoma." "" + "lung adenoid cystic carcinoma" "A rare usually indolent lung carcinoma characterized by a cribiform and tubular pattern and the presence of glandular epithelial cells. Clinical symptoms include shortness of breath, cough, wheeze, hemopytsis and chest pain." "" + "obsolete trachea adenoid cystic carcinoma" "" "true" + "adenoid cystic breast carcinoma" "An adenoid cystic carcinoma primarily involving the breast. Three morphologic patterns are seen: cribriform, trabecular, and solid. The prognosis is excellent." "" + "esophageal adenoid cystic carcinoma" "An infrequent esophageal carcinoma arising from esophageal glands. (WHO)" "" + "Bartholin gland adenoid cystic carcinoma" "A carcinoma that arises from the Bartholin gland and is characterized by the presence of islands of uniform malignant cells forming cribriform patterns." "" + "Bartholin gland adenocarcinoma" "A carcinoma that arises from glandular epithelial cells of the major vestibular gland." "" + "obsolete juvenile myoclonic epilepsy" "" "true" + "middle ear adenocarcinoma" "A carcinoma that arises from glandular epithelial cells of the middle ear" "" + "middle ear carcinoma" "A carcinoma that arises from epithelial cells of the middle ear" "" + "middle ear cancer" "A malignant neoplasm involving the middle ear" "" + "rete ovarii adenocarcinoma" "An exceptionally rare adenocarcinoma that arises from the rete ovarii." "" + "rete ovarii neoplasm" "A benign or malignant neoplasm that arises from the rete ovarii which is located in the ovarian hilus. It includes adenoma, cystadenoma, cystadenofibroma, and adenocarcinoma." "" + "adenocarcinoma of liver and intrahepatic biliary tract" "" + "hemangioma of lung" "A hemangioma that involves the lung." "" + "peritoneal serous adenocarcinoma" "A rare, serous adenocarcinoma that arises from the lining of the peritoneum. It affects females. The clinical behavior and pathologic characteristics are similar to the serous adenocarcinoma that arises from the ovary." "" + "serous adenocarcinoma" "An adenocarcinoma that is characterized by the presence of papillary patterns and cellular budding. Psammoma bodies may be present. Representative examples include cervical serous adenocarcinoma, endometrial serous adenocarcinoma, ovarian serous adenocarcinoma, and primary peritoneal serous adenocarcinoma." "" + "appendix carcinoma" "A carcinoma that arises from epithelial cells of the vermiform appendix" "" + "cecum carcinoma" "A carcinoma that arises from epithelial cells of the caecum" "" + "epithelial tumor of the appendix" "A epithelial neoplasm that involves the vermiform appendix." "" + "granular cell carcinoma" "An adenocarcinoma characterized by the presence of malignant epithelial cells with granular cytoplasm." "" + "small intestine carcinoma" "A carcinoma that arises from epithelial cells of the small intestine" "" + "urethra adenocarcinoma" "A carcinoma that arises from glandular epithelial cells of the urethra" "" + "obsolete esophagus adenocarcinoma" "" "true" + "pituitary gland basophilic carcinoma" "" + "pituitary adenocarcinoma" "A rare adenocarcinoma with poor prognosis, arising from the adenohypophysial cells of the anterior lobe of the pituitary gland or pre-existing adenomas. The majority are hormonally functioning neoplasms, usually producing prolactin or ACTH. The diagnosis is based on the presence of metastases. Syndromes associated with pituitary gland carcinomas include hyperprolactinemia, Cushing disease, and acromegaly." "" + "obsolete pituitary carcinoma" "" "true" + "villous adenocarcinoma" "An adenocarcinoma characterized by the presence of a villous architectural pattern. It may arise from a villous adenoma." "" + "renal pelvis adenocarcinoma" "A carcinoma that arises from glandular epithelial cells of the renal pelvis" "" + "renal pelvis carcinoma" "A carcinoma arising in the renal pelvis. The majority of renal pelvis carcinomas are transitional cell and less frequently squamous cell carcinomas." "" + "acquired hemangioma" "A hemangioma that is not present at birth but develops later in life." "" + "obsolete eccrine adenocarcinoma" "" "true" + "breast secretory carcinoma" "A rare, low grade invasive adenocarcinoma of the breast characterized by the presence of cells that secrete milk-like material. Morphologically, it usually appears as a circumscribed lesion, composed of cystic spaces, tubular structures, and solid areas." "" + "intrahepatic cholangiocarcinoma" "A carcinoma that arises from the intrahepatic bile duct epithelium in any site of the intrahepatic biliary tree. Grossly, the malignant lesions are solid, nodular, and grayish. Morphologically, the vast majority of cases are adenocarcinomas. Signs and symptoms include malaise, weight loss, right upper quadrant abdominal pain, and night sweats. Early detection is difficult and the prognosis is generally poor." "" + "cholangiocarcinoma" "A carcinoma that arises from the intrahepatic biliary tree (intrahepatic cholangiocarcinoma) or from the junction, or adjacent to the junction, of the right and left hepatic ducts (hilar cholangiocarcinoma). Grossly, the malignant lesions are solid, nodular, and grayish. Morphologically, the vast majority of cases are adenocarcinomas. Signs and symptoms include malaise, weight loss, right upper quadrant abdominal pain, and night sweats. Early detection is difficult and the prognosis is generally poor." "" + "nasal cavity adenocarcinoma" "A carcinoma that arises from glandular epithelial cells of the nasal cavity" "" + "nasal cavity carcinoma" "A carcinoma that arises from epithelial cells of the nasal cavity" "" + "obsolete ampulla of vater carcinoma" "" "true" + "apocrine adenocarcinoma" "A carcinoma with apocrine differentiation arising from the sweat glands. It presents as single or multiple nodular lesions which may be ulcerated or hemorrhagic and is usually in the axilla and less often in the anogenital region. It grows in the dermis and infiltrates subcutaneous tissues. It is characterized by the presence of large cells with abundant eosinophilic cytoplasm and large often vesicular nuclei. Most cases are slow growing tumors and have a prolonged course." "" + "apocrine sweat gland cancer" "A malignant neoplasm involving the apocrine sweat gland." "" + "ureter adenocarcinoma" "A carcinoma that arises from glandular epithelial cells of the ureter" "" + "obsolete ureter carcinoma" "" "true" + "gastroesophageal junction adenocarcinoma" "A carcinoma that arises from glandular epithelial cells of the esophagogastric junction." "" + "obsolete sclerosing hemangioma" "" "true" + "central nervous system melanocytic neoplasm" "A primary tumor of the central nervous system that arises from leptomeningeal melanocytes. It may present as a diffuse proliferative leptomeningeal process (often as a component of the neurocutaneous melanosis complex) or as a distinct mass lesion." "" + "melanocytic neoplasm" "" + "meninges hemangiopericytoma" "A solitary fibrous tumor/hemangiopericytoma that arises from the meninges." "" + "obsolete spindle cell hemangioma" "" "true" + "obsolete Nelson syndrome" "" "true" + "prosopagnosia" "Impaired ability to recognize other human faces in the absence of a vision disorder. It may be a congenital disorder or the result of brain injury." "" + "obsolete myelodysplastic/myeloproliferative neoplasm" "" "true" + "obsolete lymphedema" "" "true" + "obsolete extraosseous Ewings sarcoma-primitive neuroepithelial tumor" "" "true" + "alcoholic pancreatitis" "Acute or chronic inflammation of the pancreas due to excessive alcohol drinking. Alcoholic pancreatitis usually presents as an acute episode but it is a chronic progressive disease in alcoholics." "" + "pancreatitis" "Inflammation of the pancreas." "" + "essential tremor" "A relatively common disorder characterized by a fairly specific pattern of tremors which are most prominent in the upper extremities and neck, inducing titubations of the head. The tremor is usually mild, but when severe may be disabling. An autosomal dominant pattern of inheritance may occur in some families (i.e., familial tremor). (Mov Disord 1988;13(1):5-10)" "" + "optic nerve astrocytoma" "A astrocytoma (excluding glioblastoma) that involves the cranial nerve II." "" + "optic nerve glioma" "A glioma that affects the optic nerve. This condition can be seen in association with neurofibromatosis 1. It is most commonly seen in the pediatric age group." "" + "optic tract astrocytoma" "An astrocytoma that affects the optic tract. This condition can be seen in association with neurofibromatosis 1. It is most commonly seen in the pediatric age group." "" + "optic pathway glioma" "Optic pathway glioma (OPG) is a benign tumor that develop along the optic nerve (chiasm, tracts, and radiations) characterized by impairment or loss of vision and may be accompanied by diencephalic symptoms such as reduced growth and alteration in sleeping patterns. OPG are often linked to neurofibromatosis type 1 (NF1)." "" + "atypical polypoid adenomyoma" "An adenomyoma characterized by the presence of marked glandular architectural complexity." "" + "adenomyoma" "A benign neoplasm characterized by the presence of a glandular and a mesenchymal (fibromyomatous) component. It occurs in the uterine corpus and the cervix. A variant of adenomyoma associated with glandular architectural complexity is called atypical polypoid adenomyoma. Simple polypectomy is usually curative. Atypical polypoid adenomyoma may recur following polypectomy." "" + "adenomyoma of uterine corpus" "A usually polypoid, benign neoplasm that arises from the uterine corpus. It is characterized by the presence of benign epithelial glands embedded in benign fibromyomatous tissue." "" + "cervical adenomyoma" "A rare, benign, usually polypoid neoplasm that arises from the cervix. It is characterized by the presence of a glandular component and a smooth muscle cell component. Variants include the endocervical type, endometrial type, and atypical polypoid adenomyoma." "" + "obsolete Camurati-Engelmann disease" "" "true" + "obsolete fibrolamellar carcinoma" "" "true" + "hepatocellular clear cell carcinoma" "A morphologic variant of hepatocellular carcinoma characterized by the presence of clear cells." "" + "clear cell adenocarcinoma" "A malignant neoplasm composed of glandular epithelial clear cells. Various architectural patterns may be seen, including papillary, tubulocystic, and solid." "" + "hepatocellular carcinoma" "A malignant tumor that arises from hepatocytes. Hepatocellular carcinoma is relatively rare in the United States but very common in all African countries south of the Sahara and in Southeast Asia. Most cases are seen in patients over the age of 50 years, but this tumor can also occur in younger individuals and even in children. Hepatocellular carcinoma is more common in males than females and is associated with hepatitis B, hepatitis C, chronic alcohol abuse and cirrhosis. Serum elevation of alpha-fetoprotein occurs in a large percentage of patients with hepatocellular carcinoma. Grossly, hepatocellular carcinoma may present as a single mass, as multiple nodules, or as diffuse liver involvement. Microscopically, there is a wide range of differentiation from tumor to tumor (well differentiated to poorly differentiated tumors). Hepatocellular carcinomas quickly metastasize to regional lymph nodes and lung. The overall median survival of untreated liver cell carcinoma is about 4 months. The most effective treatment of hepatocellular carcinoma is complete resection of the tumor. Lately, an increasing number of tumors have been treated with liver transplantation." "" + "aflatoxin-related hepatocellular carcinoma" "A hepatocellular carcinoma that develops following exposure to aflatoxin." "" + "sclerosing hepatic carcinoma" "An uncommon type of hepatocelluar carcinoma, morphologically characterized by significant fibrosis around the sinusoid-like spaces and atrophy of the tumor trabeculae." "" + "obsolete pineal parenchymal tumor of intermediate differentiation" "" "true" + "adult pineal parenchymal tumor" "A pineal parenchymal cell neoplasm (pineocytoma or pineoblastoma) occurring in adults." "" + "pineal parenchymal cell neoplasm" "A neoplasm arising from the pineocyte, a cell with photosensory and neuroendocrine functions. It may be composed of mature elements or primitive, immature cells. The cellular composition determines the biological behavior and clinical outcome. Three types are recognized: pineoblastoma, pineocytoma, and pineal parenchymal tumor of intermediate differentiation (Adapted from WHO.)" "" + "pineal body neoplasm" "A neoplasm (disease) that involves the pineal body." "" + "benign granular cell tumor" "A granular cell tumor that is confined to the site of origin, without metastatic potential." "" + "esophageal granular cell tumor" "A tumor that usually presents with small nodules or small sessile polyps, predominantly in the distal esophagus. Histologically, it is composed of sheets of oval to polygonal cells with a small central nucleus and abundant granular cytoplasm. This is usually a benign tumor. (WHO, 2000) -- 2003" "" + "neoplasm of esophagus" "A neoplasm (disease) that involves the esophagus." "" + "vulvar granular cell tumor" "A usually benign granular cell tumor that arises from the vulva." "" + "cardiac granular cell neoplasm" "A very rare granular cell tumor that arises from the heart." "" + "benign neoplasm of epicardium" "A benign neoplasm that involves the epicardium." "" + "mediastinal granular cell myoblastoma" "An exceptionally rare, generally benign, granular cell tumor that arises from the mediastinum. All the reported cases were located in the posterior mediastinum." "" + "neurohypophysis granular cell tumor" "A generally benign intrasellar and/or suprasellar mass arising from the neurohypophysis or infundibulum. It is composed of nests of large cells with granular, eosinophilic cytoplasm due to abundant intracytoplasmic lysosomes. It generally has a slow progression and lacks invasive growth. (Adapted from WHO)" "" + "posterior pituitary gland neoplasm" "A low-grade neoplasm that arises from the neurohypophysis. It includes the granular cell tumor of the neurohypophysis and pituicytoma." "" + "hobnail hemangioma" "A hemangioma characterized by the presence of hobnail endothelial cells." "" + "obsolete melioidosis" "" "true" + "papillary meningioma of the cerebellum" "A papillary meningioma that affects the cerebellum." "" + "papillary meningioma" "A WHO grade III meningioma characterized by the predominance of a perivascular pseudopapillary pattern." "" + "rhabdoid meningioma" "A WHO grade III meningioma characterized by the predominant presence of rhabdoid cells forming sheets." "" + "basosquamous carcinoma" "A basal cell carcinoma which displays squamous differentiation. The neoplastic cells have more abundant cytoplasm with more marked keratinization than typical basal cell carcinomas. It usually has a more aggressive clinical course compared to typical basal cell carcinoma, and it may produce regional or widespread metastases." "" + "adjustment disorder" "A category of psychiatric disorders which are characterized by emotional or behavioral symptoms that develop within 3 months of a stressor and do not persist for more than an additional 6 months after the stressor is no longer present." "" + "obsolete myxopapillary ependymoma" "" "true" + "mixed glioma" "A tumor composed of two or more glial cell types (astrocytes, ependymal cells, and oligodendrocytes)." "" + "obsolete subependymal giant cell astrocytoma" "" "true" + "obsolete ganglioglioma" "" "true" + "iodine hypothyroidism" "" + "sternum cancer" "A malignant neoplasm involving the sternum" "" + "sternal neoplasm" "A benign or malignant neoplasm that affects the sternum." "" + "malignant ear neoplasm" "A malignant neoplasm that affects the ear. Representative examples include ceruminous adenocarcinoma and squamous cell carcinoma of the external ear and adenocarcinoma of the middle ear." "" + "neoplasm of middle ear" "A neoplasm (disease) that involves the middle ear." "" + "ear neoplasm" "A neoplasm (disease) that involves the ear." "" + "inner ear cancer" "A malignant neoplasm involving the internal ear." "" + "inner ear neoplasm" "A rare neoplasm that arises from the inner ear. Representative examples include lipoma and acoustic schwannoma." "" + "testicular infarct" "Ischemic necrosis of the testis usually caused by torsion of the spermatic cord, trauma, or severe epididymo-orchitis." "" + "swayback" "Congenital locomotor ataxia of lambs, thought to be associated with copper deficiency. It is characterized clinically by progressive incoordination of the hind limbs and pathologically by disruption of neuron and myelin development in the central nervous system. It is caused by a deficiency of metabolizable copper in the ewe during the last half of her pregnancy. (Dorland, 28th ed; Stedman, 26th ed)" "" + "ovarian cystic teratoma" "A teratoma that arises from the ovary and is characterized by the presence of cystic structures. Representative example is the dermoid cyst." "" + "ovarian germ cell tumor" "A neoplasm that arises from the ovary and originates from germ cells. Representative examples include teratoma, embryonal carcinoma, yolk sac tumor, and dysgerminoma." "" + "mature ovarian teratoma" "An ovarian teratoma which may be cystic, composed entirely of well differentiated, adult-type tissues, without evidence of fetal-type tissues." "" + "mediastinum leiomyoma" "A benign smooth muscle neoplasm arising from the mediastium. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern." "" + "benign neoplasm of mediastinum" "A benign neoplasm that involves the mediastinum." "" + "fallopian tube leiomyoma" "A benign smooth muscle neoplasm arising from the fallopian tube. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern." "" + "extrahepatic bile duct leiomyoma" "A benign smooth muscle neoplasm arising from an extrahepatic bile duct. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern." "" + "liver leiomyoma" "A benign smooth muscle neoplasm arising from the liver. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern." "" + "central nervous system leiomyoma" "A benign smooth muscle neoplasm arising from the central nervous system. It is characterized by the presence of intersecting fascicles composed of spindle cells that often lack mitotic activity." "" + "deep leiomyoma" "A rare benign smooth muscle neoplasm arising from deep tissue. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern." "" + "simple partial epilepsy" "" + "leiomyoma cutis" "A benign smooth muscle neoplasm arising from the arrector pili muscle, tunica media of blood vessels, and dartos muscle of the genitalia. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern." "" + "anus leiomyoma" "A well-circumscribed benign smooth muscle neoplasm arising from the anus. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern." "" + "rectum leiomyoma" "A well-circumscribed benign smooth muscle neoplasm arising from the rectum. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern." "" + "benign neoplasm of anus" "A benign neoplasm that involves the anus." "" + "lung leiomyoma" "A benign smooth muscle neoplasm arising from the lung. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern." "" + "pericardium leiomyoma" "A benign smooth muscle neoplasm arising from the pericardium. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern." "" + "benign neoplasm of pericardium" "A benign neoplasm that involves the pericardium." "" + "leiomyomatosis" "A condition characterized by the presence of numerous small benign smooth muscle neoplasms located throughout the body." "" + "cellular leiomyoma" "A morphologic variant of classic leiomyoma characterized by a dense cellular infiltrate composed of spindle or round cells with scant cytoplasm and a less obvious interlacing fascicle pattern." "" + "gallbladder leiomyoma" "A benign smooth muscle neoplasm arising from the gallbladder. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern." "" + "vulvar leiomyoma" "A benign smooth muscle neoplasm arising from the vulva. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern." "" + "appendix leiomyoma" "A well-circumscribed benign smooth muscle neoplasm arising from the appendix. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern." "" + "benign neoplasm of appendix" "A benign neoplasm that involves the vermiform appendix." "" + "dartoic leiomyoma" "A cutaneous leiomyoma arising from the dartos muscle of the scrotum or labia majora." "" + "epithelioid neurofibroma" "A rare neurofibroma with epithelioid morphology." "" + "neurofibroma of gallbladder" "A non-metastasizing encapsulated neoplasm arising from nerves in the gallbladder. Morphologically, it is characterized by the presence of fibroblasts and Schwann cells." "" + "plexiform neurofibroma" "An elongated and multinodular neurofibroma, formed when the tumor involves either multiple trunks of a plexus or multiple fascicles of a large nerve, such as the sciatic. Some plexiform neurofibromas resemble a bag of worms, others produce a massive ropy enlargement of the nerve. (Adapted from WHO.)" "" + "cellular neurofibroma" "A neurofibroma characterized by the presence of areas with increased cellularity." "" + "atypical neurofibroma" "A neurofibroma characterized by the presence of cellular pleomorphism." "" + "multiple mucosal neuroma" "" + "pleural mesothelioma" "A neoplasm that arises from the mesothelial cells of the pleura. The primary cause is exposure to asbestos. The major histologic variants are the epithelioid malignant mesothelioma, desmoplastic malignant mesothelioma, and sarcomatoid malignant mesothelioma. Patients present with persistent cough and shortness of breath." "" + "pleural neoplasm" "A benign or malignant neoplasm that involves the serous membrane that lines the lungs and thoracic cavity. Most pleural neoplasms are metastatic. Diffuse malignant mesothelioma is the most common primary malignant neoplasm of the pleura." "" + "obsolete pleural cancer" "" "true" + "Monckeberg arteriosclerosis" "A type of arteriosclerosis in which calcification of the tunica media is the predominant feature." "" + "endometrial stromal tumor" "Neoplasms of the endometrial stroma that sometimes involve the myometrium. These tumors contain cells that may closely or remotely resemble the normal stromal cells. Endometrial stromal neoplasms are divided into three categories: (1) benign stromal nodules; (2) low-grade stromal sarcoma, or endolymphatic stromal myosis; and (3) malignant endometrial stromal sarcoma (sarcoma, endometrial stromal)." "" + "endometrium neoplasm" "A neoplasm (disease) that involves the endometrium." "" + "ovarian endometrioid stromal and related neoplasms" "A category of rare neoplasms that arise from the ovary. It includes low grade endometrioid stromal sarcoma and undifferentiated sarcoma." "" + "endometrioid stromal and related neoplasms" "A category of mesenchymal gynecologic neoplasms. It includes endometrial stromal nodule, endometrioid stromal sarcoma, and undifferentiated sarcoma. Endometrial stromal nodule has been described in the uterine corpus only. Histologically, it is characterized by the lack of infiltration of the surrounding tissues. Endometrioid stromal sarcoma affects the uterine corpus, and rarely, the ovaries, cervix, and vagina. In the uterine corpus it is classified as low grade or high grade endometrial stromal sarcoma. In the remainder of the anatomic sites it is classified as low grade endometrioid stromal sarcoma. Undifferentiated sarcoma was previously also known as high grade endometrial stromal sarcoma. In 2014, high grade endometrial stromal sarcoma was reclassified and is currently considered a distinct and rare neoplasm that affects the uterine corpus only. It appears to have a prognosis that falls between low grade endometrial stromal sarcoma and undifferentiated sarcoma. The latter affects the uterine corpus and rarely the remainder of the anatomic sites." "" + "endometrioid stromal sarcoma of the vagina" "A rare sarcoma that arises from the vagina. This category includes low grade endometrioid stromal sarcoma and undifferentiated vaginal sarcoma." "" + "endometrioid stromal and related neoplasms of the vagina" "A category of rare neoplasms that arise from the vagina. It includes low grade endometrioid stromal sarcoma and undifferentiated sarcoma." "" + "endometrium carcinoma in situ" "A carcinoma in situ involving a endometrium." "" + "uterus carcinoma in situ" "A carcinoma in situ involving a uterus." "" + "nonanaplastic kidney Wilms tumor" "Wilms tumor of the kidney characterized by the absence of nuclear anaplasia." "" + "kidney Wilms tumor" "An embryonal pediatric tumor of the kidney which may also be seen rarely in adults. The peak incidence of Wilms tumor is between the second and fifth year of life. Microscopically, it is composed of a mixture of cellular elements (blastemal, stromal, and epithelial). The most common sites of metastasis include the regional lymph nodes, lungs, and liver." "" + "metachronous kidney Wilms' tumor" "Wilms tumor arising in the remaining kidney following treatment of the original Wilms tumor." "" + "Wilms tumor 1" "" + "mixed cell type kidney Wilms' tumor" "Wilms tumor of the kidney characterized by the presence of blastema, epithelial, and mesenchymal components (triphasic pattern) or a combination of two of them (biphasic pattern)." "" + "blastema predominant kidney Wilms tumor" "Wilms tumor of the kidney characterized by the predominance of the blastema component." "" + "hereditary Wilms tumor" "Familial embryonal neoplasm derived from nephrogenic blastemal cells. Several lines of differentiation, including blastemal, stromal and epithelial, are usually expressed. Comprises approximately 1% of Wilms tumors. (AFIP fascicle version 2.0)" "" + "epithelial predominant Wilms' tumor" "Wilms tumor of the kidney characterized by the predominance of the epithelial component. The epithelial cells may form papillary and tubular patterns and pseudorosettes." "" + "" "true" + "cervical Wilms tumor" "An embryonal neoplasm arising from the cervix with morphologic features resembling Wilms tumor of the kidney." "" + "obsolete stromal predominant kidney Wilms' tumor" "" "true" + "nodular ganglioneuroblastoma" "A ganglioneuroblastoma characterized by the presence of neuroblastic cells in a Schwannian stroma, and the formation of hemorrhagic neuroblastic nodules." "" + "intermixed schwannian stroma-rich ganglioneuroblastoma" "A ganglioneuroblastoma characterized by the presence of neuroblastic cells in a Schwannian stroma, without the presence of hemorrhagic neuroblastic nodules." "" + "fallopian tube adenomatoid tumor" "A benign neoplasm that arises from the fallopian tube and originates from mesothelial cells. It is characterized by the presence of gland-like structures that are lined by flat or cuboidal cells. It is usually discovered as an incidental finding." "" + "ureteral obstruction" "Blockage in any part of the ureter causing obstruction of urine flow from the kidney to the urinary bladder. The obstruction may be congenital, acquired, unilateral, bilateral, complete, partial, acute, or chronic. Depending on the degree and duration of the obstruction, clinical features vary greatly such as hydronephrosis and obstructive nephropathy." "" + "urinary tract obstruction" "Blockage of the normal flow of contents of the urinary tract." "" + "ovarian teratoma" "A non-seminomatous germ cell tumor arising from the ovary. It is characterized by the presence of various tissues which correspond to the different germinal layers (endoderm, mesoderm, and ectoderm). According to the level of differentiation of the tissues which comprise the tumor, ovarian teratomas are classified as mature or immature. Mature teratomas are composed of well differentiated, adult-type tissues. Immature teratomas are composed of immature, fetal type-tissues. Mature ovarian teratomas without a fetal-type component have an excellent outcome. The prognosis of immature ovarian teratomas is related to the grade and stage of the tumor." "" + "malignant struma ovarii" "An ovarian mature teratoma characterized by the presence of aberrant thyroid tissue with morphologic changes identical to thyroid carcinoma. Patients may present with abdominal mass and unusual symptoms due to thyrotoxicosis, or with Meigs syndrome (ascites and pleural effusion)." "" + "struma ovarii" "An ovarian mature teratoma characterized by the presence of aberrant thyroid tissue. The aberrant thyroid tissue shows morphologic changes identical to thyroid adenoma or carcinoma. Patients may present with abdominal mass and unusual symptoms due to thyrotoxicosis, or Meigs syndrome (ascites and pleural effusion)." "" + "teratoma with malignant transformation" "A teratoma which is characterized by morphologic transformation to malignancy and an aggressive clinical course. The malignant component most often is sarcomatous or carcinomatous." "" + "immature ovarian teratoma" "A malignant germ cell tumor arising from the ovary. It usually affects females in their first two decades of life. It contains variable amounts of immature embryonal tissues. Based on the amount of immature neuroepithelial component, immature teratomas are graded from 1 to 3. The stage and grade of the tumor and the grade of the metastatic tumor are the important factors that predict prognosis. The use of cisplatin-based combination chemotherapy has significantly improved the survival rates of the patients." "" + "benign struma ovarii" "A mature monodermal teratoma that arises from the ovary and is characterized by the presence of benign, thyroid-type tissues." "" + "acute necrotizing encephalitis" "A fulminant and often fatal demyelinating disease of the brain which primarily affects young adults and children. Clinical features include the rapid onset of weakness, seizures, and coma. It may follow a viral illness or mycoplasma pneumoniae infections but in most instances there is no precipitating event. Pathologic examination reveals marked perivascular demyelination and necrosis of white matter with microhemorrhages. (Adams et al., Principles of Neurology, 6th ed, pp924-5)" "" + "acute hemorrhagic encephalitis" "Acute encephalitis that is characterized by bleeding." "" + "obsolete von Economo disease" "" "true" + "obsolete hepatoerythropoietic porphyria" "" "true" + "malignant glomus tumor" "A very rare morphologic variant of glomus tumor with a size greater than 2 cm. The tumor arises in subfascial or visceral tissues. It is characterized by the presence of atypical mitotic figures, or marked nuclear atypia, or the combination of both. It has an aggressive clinical course." "" + "subungual glomus tumor" "A glomus tumor arising in the finger and usually associated with pain." "" + "nail tumor" "A neoplasm involving a nail." "" + "benign perivascular tumor" "A benign mesenchymal neoplasm arising from the perivascular cells of the connective and soft tissues. It is characterized by the presence of pericytes that grow in a circumferential pattern around vessels." "" + "retinal hemangioblastoma" "A hemangioblastoma that arises from the retina. It is typically a sign of von Hippel-Lindau disease. It may also be seen as an isolated entity without systemic involvement." "" + "hemangioblastoma" "Hemangioblastoma is a rare, benign, highly vascularized tumor of the central nervous system, most often located in the cerebellum or spinal cord, presenting in adulthood and manifesting with dizziness, nausea, malaise, headache, bladder or bowel dysfunction, numbness, weakness and pain in the upper or lower extremities, and often associated with von Hippel-Lindau disease (VHL). Exceptional cases of hemangioblastoma arising outside of the central nervous system have been reported." "" + "hemangioma of retina" "A hemangioma that involves the retina." "" + "obsolete hemangioblastoma" "" "true" + "hilar cholangiocarcinoma" "A cholangiocarcinoma that arises from the junction, or adjacent to the junction, of the right and left hepatic ducts." "" + "inflammatory leiomyosarcoma" "A morphologic variant of leiomyosarcoma characterized by the presence of an inflammatory infiltrate admixed with malignant spindle cells." "" + "conventional leiomyosarcoma" "An uncommon, aggressive malignant smooth muscle neoplasm. It is characterized by the presence of atypical large spindle or round cells, nuclear palisading, tumor cell necrosis, mitotic figures and may be associated with vascular invasion." "" + "central nervous system leiomyosarcoma" "An aggressive malignant smooth muscle neoplasm, arising from the central nervous system. It is characterized by a proliferation of neoplastic spindle cells." "" + "malignant central nervous system mesenchymal, non-meningothelial neoplasm" "A metastasizing mesenchymal, non-meningothelial neoplasm that arises from the central nervous system." "" + "granular cell leiomyosarcoma" "An aggressive malignant smooth muscle neoplasm. It is characterized by the presence of malignant smooth muscle cells with granular cytoplasmic changes." "" + "colon leiomyosarcoma" "An aggressive malignant smooth muscle neoplasm that arises from the colon. It is characterized by a proliferation of neoplastic spindle cells." "" + "colon sarcoma" "A malignant soft tissue neoplasm that arises from the colon. Representative examples include angiosarcoma, Kaposi sarcoma, and leiomyosarcoma." "" + "heart leiomyosarcoma" "An aggressive malignant smooth muscle neoplasm, arising from the heart. It is characterized by a proliferation of neoplastic spindle cells." "" + "ovary leiomyosarcoma" "An aggressive malignant smooth muscle neoplasm, arising from the ovary. It is characterized by a proliferation of neoplastic spindle cells." "" + "epithelioid leiomyosarcoma" "A morphologic variant of leiomyosarcoma characterized by the presence of epithelioid round cells with eosinophilic to clear cytoplasm." "" + "lung leiomyosarcoma" "An aggressive malignant smooth muscle neoplasm, arising from the lung. It is characterized by a proliferation of neoplastic spindle cells." "" + "anus leiomyosarcoma" "An aggressive malignant smooth muscle neoplasm, arising from the anus. It is characterized by a proliferation of neoplastic spindle cells." "" + "rectum leiomyosarcoma" "An aggressive malignant smooth muscle neoplasm that arises from the rectum. It is characterized by a proliferation of neoplastic spindle cells." "" + "myxoid leiomyosarcoma" "A morphologic variant of leiomyosarcoma characterized by the presence of cellular pleomorphism, malignant cells with large nuclei, and a myxoid stroma." "" + "small intestine leiomyosarcoma" "An aggressive malignant smooth muscle neoplasm, arising from the small intestine. It is characterized by a proliferation of neoplastic spindle cells." "" + "small intestinal sarcoma" "A malignant soft tissue neoplasm that arises from the small intestine. Representative examples include leiomyosarcoma, angiosarcoma, and Kaposi sarcoma." "" + "mesenchymal tumor of small intestine" "" + "cutaneous leiomyosarcoma" "An aggressive malignant smooth muscle neoplasm, arising from the skin. It is characterized by a proliferation of neoplastic spindle cells." "" + "malignant dermis tumor" "A malignant neoplasm involving the dermis." "" + "gallbladder leiomyosarcoma" "An aggressive malignant smooth muscle neoplasm, arising from the gallbladder. It is characterized by a proliferation of neoplastic spindle cells." "" + "esophagus leiomyosarcoma" "An aggressive malignant smooth muscle neoplasm, arising from the esophagus. It is characterized by a proliferation of neoplastic spindle cells." "" + "gastric leiomyosarcoma" "An aggressive malignant smooth muscle neoplasm, arising from the stomach. It is characterized by a proliferation of neoplastic spindle cells." "" + "prostate leiomyosarcoma" "An aggressive malignant smooth muscle neoplasm, arising from the prostate. It is characterized by a proliferation of neoplastic spindle cells." "" + "vagina leiomyosarcoma" "An aggressive malignant smooth muscle neoplasm, arising from the vagina. It is characterized by a proliferation of neoplastic spindle cells." "" + "retroperitoneal leiomyosarcoma" "An aggressive malignant smooth muscle neoplasm, arising from the retroperitoneum. It is characterized by a proliferation of neoplastic spindle cells." "" + "breast leiomyosarcoma" "An aggressive malignant smooth muscle neoplasm, arising from the breast. It is characterized by a proliferation of neoplastic spindle cells." "" + "vulvar leiomyosarcoma" "An aggressive malignant smooth muscle neoplasm, arising from the vulva. It is characterized by a proliferation of neoplastic spindle cells." "" + "vulva sarcoma" "A malignant mesenchymal neoplasm that arises from the vulva. Representative examples include childhood botryoid-type embryonal rhabdomyosarcoma, alveolar soft part sarcoma, and leiomyosarcoma." "" + "kidney leiomyosarcoma" "An aggressive malignant smooth muscle neoplasm, arising from the kidney. It is characterized by a proliferation of neoplastic spindle cells." "" + "laryngeal leiomyosarcoma" "An aggressive malignant smooth muscle neoplasm, arising from the larynx. It is characterized by a proliferation of neoplastic spindle cells." "" + "obsolete uterus leiomyosarcoma" "" "true" + "mediastinum leiomyosarcoma" "An aggressive malignant smooth muscle neoplasm, arising from the mediastinum. It is characterized by a proliferation of neoplastic spindle cells." "" + "extrahepatic bile duct leiomyosarcoma" "An aggressive malignant smooth muscle neoplasm, arising from an extrahepatic bile duct. It is characterized by a proliferation of neoplastic spindle cells." "" + "liver leiomyosarcoma" "An aggressive malignant smooth muscle neoplasm, arising from the liver. It is characterized by a proliferation of neoplastic spindle cells." "" + "obsolete endometrial clear cell adenocarcinoma" "" "true" + "neuroendocrine disorder" "A disease or disorder that affects the neuroendocrine gland, any of the organized aggregations of cells that function as secretory or excretory organs and that release hormones in response to neural stimuli." "" + "fallopian tube clear cell adenocarcinoma" "A rare adenocarcinoma of the fallopian tube composed of malignant glandular epithelium containing clear cells." "" + "uterine ligament clear cell adenocarcinoma" "A clear cell adenocarcinoma of the uterine ligament composed mainly of clear or hobnob cells. The clear cells are large, bizarre, and multinucleated." "" + "cervical clear cell adenocarcinoma" "A rare morphologic variant of cervical adenocarcinoma composed of clear and hobnail cells. It is associated with in utero exposure to diethylstilbestrol (DES)." "" + "obsolete cervical clear cell adenocarcinoma" "" "true" + "bladder clear cell adenocarcinoma" "A rare morphologic variant of bladder adenocarcinoma characterized by the presence of malignant glandular epithelial cells and clear cells distributed in a tubulo-cystic, papillary, or diffuse pattern. There is a female predilection. Clinical presentation includes hematuria and dysuria." "" + "urethra clear cell adenocarcinoma" "A morphologic variant of urethral adenocarcinoma characterized by the presence of tubulocystic or papillary structures lined with clear cuboidal or hobnail cells." "" + "ampulla of vater clear cell adenocarcinoma" "A carcinoma with glandular differentiation arising from the ampulla of Vater. Morphologically, it is characterized by the presence of glycogen-rich cells with hyperchromatic nuclei." "" + "extrahepatic bile duct clear cell adenocarcinoma" "A morphologic variant of extrahepatic bile duct adenocarcinoma characterized by the presence of malignant glandular epithelium composed of clear cells." "" + "epithelial-myoepithelial carcinoma" "A malignant neoplasm which occurs mostly in the major salivary glands (most frequently in the parotid gland), but also in the minor salivary glands of the oral mucosa and the tracheobronchial tree. It is characterized by the presence of ductal structures which are lined by an inner layer of cuboidal epithelial-type cells and an outer layer of myoepithelial cells with clear or eosinophilic cytoplasm." "" + "glycogen-rich clear cell breast carcinoma" "An uncommon, usually aggressive adenocarcinoma of the breast characterized by the presence of clear cells that contain glycogen." "" + "glycogen-rich carcinoma" "A carcinoma characterized by the presence of malignant epithelial cells with abundant clear cytoplasm which contains glycogen. A representative example is the glycogen-rich, clear cell breast carcinoma." "" + "vulvar alveolar soft part sarcoma" "An alveolar soft part sarcoma arising from the vulva." "" + "fallopian tube germ cell tumor" "A rare germ cell tumor that affects the fallopian tube. The vast majority of cases are teratomas." "" + "thymus gland disorder" "A non-neoplastic or neoplastic disorder that affects the thymus. Representative examples include thymic hyperplasia, thymoma, and thymic carcinoma." "" + "testicular granulosa cell tumor" "A rare sex cord-stromal tumor that arises from the testis. It is characterized by the presence of granulosa-like cells and Call-Exner bodies. There are two variants described, the adult and the juvenile." "" + "granulosa cell tumor" "A slow-growing, malignant tumor, characterize by the presence of granulosa-like cells and Call-Exner bodies, that is almost always found in the ovary. In rare cases, it has also been found in the testicle. There are two types of granulosa cell tumor that can be distinguished under the microscope: the adult and the juvenile. The testicular juvenile granulosa cell tumors are perhaps the most common congenital testicular neoplasms." "" + "epulis" "A non-neoplastic nodular lesion that arises from the gingiva." "" + "gingival hypertrophy" "Abnormal enlargement or overgrowth of the gingivae brought about by enlargement of existing cells." "" + "anterograde amnesia" "Loss of the ability to form new memories beyond a certain point in time. This condition may be organic or psychogenic in origin. Organically induced anterograde amnesia may follow craniocerebral trauma; seizures; anoxia; and other conditions which adversely affect neural structures associated with memory formation (e.g., the hippocampus; fornix (brain); mammillary bodies; and anterior thalamic nuclei). (From Memory 1997 Jan-Mar;5(1-2):49-71)" "" + "pineal region yolk sac tumor" "A yolk sac tumor that involves the pineal body." "" + "central nervous system endodermal sinus tumor" "A yolk sac tumor that arises from the central nervous system and occurs during childhood." "" + "childhood endodermal sinus tumor" "A yolk sac tumor that occurs during childhood." "" + "malignant childhood germ cell neoplasm" "A malignant germ cell tumor that occurs during childhood." "" + "childhood central nervous system germ cell tumor" "A germ cell tumor of the central nervous system occurring in children." "" + "yolk sac tumor of central nervous system" "A malignant germ cell tumor of the central nervous system composed of primitive-appearing epithelial cells - putatively representing yolk sac endoderm - set in a loose, variably cellular, and often conspicuously myxoid matrix, resembling extra-embryonic mesoblast. Eosinophilic hyaline globules immunoreactive for AFP are a diagnostic feature. (WHO)" "" + "testicular yolk sac tumor" "A non-seminomatous malignant germ cell tumor arising from the testis. It affects infants, young children, and postpubertal males. It is the most frequently seen testicular neoplasm during childhood. The vast majority of patients present with an asymptomatic scrotal mass. The tumor mimics the yolk sac of the embryo and produces alpha-fetoprotein (AFP). It metastasizes to distant anatomic sites. Prognostic factors relate to the clinical stage and the degree of AFP elevation." "" + "testicular non-seminomatous germ cell cancer" "A classification of testicular cancers that arise in specialized sex cells called germ cells. Nonseminomas include embryonal carcinoma, teratoma, choriocarcinoma, and yolk sac tumor." "" + "adult yolk sac tumor" "A yolk sac tumor that occurs in an adult." "" + "adult germ cell tumor" "A germ cell tumor that occurs during adulthood." "" + "adult central nervous system germ cell tumor" "A germ cell tumor of the central nervous system occurring in adults." "" + "sleep disorder" "A change from the patient's baseline sleeping pattern, in the hours slept and/or an alteration/dysfunction in the stages of sleep." "" + "obsolete ovarian yolk sac tumor" "" "true" + "ovarian primitive germ cell tumor" "A malignant tumor that arises from the ovary and is characterized by the presence of malignant germ cell components but lacks a teratoma component." "" + "malignant germ cell tumor of ovary" "Malignant germ cell tumor of ovary is a rare ovarian cancer arising from germ cells in the ovary, frequently unilateral at diagnosis which characteristically presents during adolescence with pelvic mass, fever, vaginal bleeding and acute abdomen." "" + "Wolffian duct adenocarcinoma" "A cervical adenocarcinoma that arises from mesonephric remnants. It is usually characterized by the presence of tubular glands lined by cuboidal epithelial cells." "" + "mesonephric adenocarcinoma" "An adenocarcinoma of the cervix or the vagina arising from mesonephric remnants." "" + "mesonephric neoplasm" "An epithelial neoplasm of the female reproductive system arising from mesonephric remnants." "" + "breast hemangiopericytoma" "A hemangiopericytoma arising from the breast." "" + "retroperitoneal hemangiopericytoma" "A benign or malignant hemangiopericytoma arising from the retroperitoneum." "" + "hair follicle neoplasm" "A benign or malignant neoplasm arising from the hair follicle." "" + "skin pilomatrix carcinoma" "A very rare, locally aggressive, malignant neoplasm of the hair follicle. The majority of the cases arise de novo, however malignant transformation from a pre-existing pilomatricoma has been reported. It usually presents as a solitary nodule in the head and neck, upper extremities, or buttocks. Morphologically, it is characterized by the presence of aggregates of basaloid cells infiltrating the dermis. Masses of ghost cells are present in the cellular aggregates. Complete surgical excision is the treatment of choice. If it is not completely removed, it usually recurs, but it rarely metastasizes to distant anatomic sites." "" + "skin appendage carcinoma" "A carcinoma arising from the sebaceous glands, sweat glands, or the hair follicles. Representative examples include sebaceous carcinoma, apocrine carcinoma, eccrine carcinoma, and pilomatrical carcinoma." "" + "obsolete rare skin tumor or hamartoma" "" "true" + "obsolete hemoglobin d disease" "" "true" + "obsolete hemoglobin E disease" "" "true" + "internuclear ophthalmoplegia" "" + "obsolete bile duct adenoma" "" "true" + "Bartholin gland adenoma" "A rare, benign neoplasm that arises from the Bartholin gland and is characterized by the presence of clustered glands and tubules lined by mucin-secreting epithelial cells." "" + "bile duct adenoma" "A benign, well-demarcated polypoid neoplasm arising from the bile duct epithelium. According to the growth pattern, it is classified as tubular, papillary, or tubulopapillary. Adenomas arising from the extrahepatic bile ducts usually produce symptoms related to biliary obstruction." "" + "mixed cell adenoma" "An adenoma characterized by the presence of a mixed epithelial cell population." "" + "lung adenoma" "A benign, well circumscribed epithelial neoplasm that arises from the bronchus or the lung parenchyma. Representative examples include alveolar adenoma, papillary adenoma, and mucus gland adenoma." "" + "middle ear adenoma" "A benign, well-circumscribed glandular neoplasm that arises from the middle ear and may exhibit neuroendocrine differentiation. It usually presents with conductive hearing loss." "" + "benign neoplasm of middle ear" "A benign neoplasm that involves the middle ear." "" + "oncocytic adenoma" "A benign neoplasm composed of large cells with abundant eosinophilic granular cytoplasm. Representative examples include oncocytic adenomas of the thyroid gland, parathyroid gland, and pituitary gland." "" + "oncocytic neoplasm" "A usually benign neoplasm composed of large cells with abundant eosinophilic granular cytoplasm. Representative examples include oncocytic neoplasms of the thyroid gland, and kidney. (NCI05)" "" + "clear cell adenoma" "A benign neoplasm composed of glands containing epithelial clear cells." "" + "bronchus adenoma" "A benign lung neoplasm characterized by the presence of a fibrovascular stroma lined by cuboidal to columnar cells. Patients are usually asymptomatic and it is incidentally discovered as a pulmonary nodule during chest X-ray examination. Surgical excision is curative." "" + "brain hemangioma" "A hemangioma arising from the brain." "" + "functioning pituitary gland adenoma" "A hormone producing pituitary gland adenoma, associated with a hormonal syndrome." "" + "functioning pituitary gland neoplasm" "A hormone producing pituitary gland tumor, associated with a hormonal syndrome." "" + "pituitary gland adenoma" "A non-metastasizing tumor that arises from the adenohypophysial cells of the anterior lobe of the pituitary gland. The tumor can be hormonally functioning or not. The diagnosis can be based on imaging studies and/or radioimmunoassays. Due to its location in the sella turcica, expansion of the tumor mass can impinge on the optic chiasm or involve the temporal lobe, third ventricle and posterior fossa A frequently associated physical finding is bitemporal hemianopsia which may progress to further visual loss." "" + "prolactin producing pituitary tumor" "An adenoma or carcinoma of the anterior lobe of the pituitary gland that produces prolactin." "" + "lipoadenoma" "An adenoma in which the neoplastic epithelial cells are admixed with adipose tissue cells." "" + "hyperopia" "A refractive error in which rays of light entering the eye parallel to the optic axis are brought to a focus behind the retina, as a result of the eyeball being too short from front to back. It is also called farsightedness because the near point is more distant than it is in emmetropia with an equal amplitude of accommodation. (Dorland, 27th ed)" "" + "water-clear cell adenoma" "A rare parathyroid gland adenoma composed of neoplastic cells with abundant cytoplasm. The cytoplasm of the neoplastic cells is usually not entirely clear, and is often variably vacuolated, foamy, and granular." "" + "vaginal adenoma" "A glandular epithelial neoplasm that arises from the vagina and shows intestinal differentiation." "" + "microcystic adenoma" "A benign epithelial neoplasm characterized by a microcystic pattern. The cystic spaces are lined by small cuboidal cells without evidence of significant cytologic atypia." "" + "obsolete lung oat cell carcinoma" "" "true" + "occult small cell lung carcinoma" "A small cell lung carcinoma detectable by sputum cytology only. The primary tumor is undetectable radiographically or during bronchoscopy; therefore, it can not be assessed." "" + "small cell lung carcinoma" "Small cell lung cancer (SCLC) is a highly aggressive malignant neoplasm, accounting for 10-15% of lung cancer cases, characterized byrapid growth, and early metastasis. SCLC usually manifests as a large hilar mass with bulky mediastinal lymphadenopathy presenting clinically with chest pain, persistent cough, dyspnea, wheezing, hoarseness, hemoptysis, loss of appetite, weight loss, and neurological and endocrine paraneoplastic syndromes. SCLC is primarily reported in elderly people with a history of long-term tobacco exposure." "" + "combined lung carcinoma" "A lung carcinoma characterized by the presence of large or small neuroendocrine carcinoma cells in combination with malignant glandular or squamous epithelial cells." "" + "urinary bladder villous adenoma" "An exophytic glandular neoplasm of the bladder, morphologically similar to its intestinal counterpart. It often coexists with in situ or infiltrating bladder adenocarcinoma." "" + "obsolete bladder flat intraepithelial lesion" "" "true" + "bladder papillary urothelial neoplasm" "A papillary epithelial neoplasm that involves the urinary bladder urothelium." "" + "papillary urothelial neoplasm" "A neoplastic lesion of the urinary tract transitional cell epithelium characterized by papillary formations. -- 2003" "" + "urothelial neoplasm" "A neoplasm involving a urothelium." "" + "intrahepatic bile duct adenoma" "A rare adenoma that arises from the intrahepatic biliary tree." "" + "extrahepatic bile duct adenoma" "An adenoma that arises from the extrahepatic bile ducts. It is classified as papillary, tubular, or tubulopapillary." "" + "papillary hidradenoma" "A benign neoplasm arising from the sweat glands. It presents as a slow growing cystic nodular lesion most often in the skin of the vulva and the perianal region. It is characterized by the presence of cystic and large papillary structures. The papillary structures contain connective tissue and are covered by two layers of epithelium. Complete excision is curative." "" + "clear cell hidradenoma" "An uncommon benign neoplasm of the sweat glands characterized by the presence of clear cells." "" + "obsolete syringocystadenoma papilliferum" "" "true" + "eccrine papillary adenoma" "A benign neoplasm arising from the sweat glands. It is characterized by the presence of eccrine ducts in the dermis containing intraluminal papillary projections." "" + "obsolete laryngeal neuroendocrine tumor" "" "true" + "cochlear disorder" "Pathological processes of the snail-like structure (cochlea) of the inner ear (labyrinth) which can involve its nervous tissue, blood vessels, or fluid (endolymph)." "" + "conjunctival intraepithelial neoplasm" "" + "squamous cell intraepithelial neoplasia" "" + "conjunctival tumor" "A benign or malignant neoplasm that affects the conjunctiva. Representative examples include papilloma, squamous cell carcinoma, and melanoma." "" + "bile duct papillary neoplasm" "A non-invasive, papillary epithelial neoplasm that arises from the epithelium of the intrahepatic or extrahepatic bile ducts." "" + "obsolete bile duct mucinous cystic neoplasm" "" "true" + "obsolete ovarian serous adenofibroma" "" "true" + "uterine corpus adenofibroma" "A usually polypoid, benign neoplasm that arises from the endometrial cavity. It is characterized by the presence of a mesenchymal core component and an epithelial component that forms a lining on the mesenchymal core." "" + "cervical adenofibroma" "A benign, polypoid neoplasm that arises from the cervix. It is characterized by the presence of epithelial and mesenchymal elements." "" + "clear cell adenofibroma" "A benign neoplasm characterized by the presence of glandular structures which contain clear cells and a fibrotic stroma." "" + "fallopian tube serous adenofibroma" "A rare, benign, asymptomatic neoplasm that arises from the fallopian tube. The majority of cases are incidental findings during operation for an unrelated gynecologic disorder. The tumors are round and solitary and contain connective tissue and papillary or tubular structures lined by serous-type epithelium." "" + "serous adenofibroma" "A benign adenofibroma characterized by the presence of serous secretory cells and minute cystic spaces filled with watery fluid. A representative example is the ovarian serous adenofibroma. Cases with epithelial atypia described in the ovary lacking stromal invasion are designated as borderline serous adenofibromas and have a low grade malignant potential." "" + "papillary adenofibroma" "A biphasic polypoid neoplasm characterized by the presence of papillary projections that are lined by epithelial cells and fibrotic stroma." "" + "ovarian endometrioid adenofibroma" "A benign neoplasm of the ovary characterized by the presence of glandular structures with endometrial-type well-differentiated cells in a fibrotic stroma." "" + "cystadenofibroma" "A benign or borderline neoplasm that arises from the ovaries and the fallopian tubes. It is characterized by the presence of cystic glandular structures and fibrous tissue." "" + "fibrous synovial sarcoma" "" + "synovial sarcoma" "Synovial sarcoma is an aggressive soft tissue sarcoma, occurring most commonly in adolescents and young adults (15 to 40 years), usually localized near the large joints of the extremities but also in the head and neck, mediastinum and viscera (lung, kidney etc), clinically presenting as a deep seated swelling or a painful mass often with an initial indolent course and is characterized by its local invasiveness and a propensity to metastasize. The origin of synovial sarcoma is likely from multipotent mesenchymal cells and not synovium (contrary to its name)." "" + "spindle cell synovial sarcoma" "A synovial sarcoma characterized by the presence of a spindle cell component only." "" + "monophasic synovial sarcoma" "A synovial sarcoma characterized by the presence of an epithelial or a spindle cell component only." "" + "mediastinum synovial sarcoma" "A synovial sarcoma arising from the mediastinum." "" + "biphasic synovial sarcoma" "A synovial sarcoma characterized by the presence of both an epithelial and a spindle cell component." "" + "epithelioid cell synovial sarcoma" "A synovial sarcoma characterized by the presence of an epithelial cell component only. The epithelial cells are arranged in glandular or papillary structures." "" + "cellular ependymoma" "An ependymoma which shows conspicuous cellularity without a significant increase in mitotic rate. (Adapted from WHO)" "" + "ependymoma" "A WHO grade II, slow growing tumor of children and young adults, usually located intraventricularly. It is the most common ependymal neoplasm. It often causes clinical symptoms by blocking cerebrospinal fluid pathways. Key histological features include perivascular pseudorosettes and ependymal rosettes. (WHO)" "" + "Pediculus humanus capitis infestation" "A infectious disease involving Pediculus humanus capitis." "" + "spinal cord ependymoma" "An ependymoma that arises from the spinal cord." "" + "malignant ependymoma" "A malignant form of ependymoma." "" + "ependymal tumor of spinal cord" "An ependymal tumor that arises from the spinal cord." "" + "tanycytic ependymoma" "A variant of ependymoma, often found in the spinal cord, with tumor cells arranged in fascicles of variable width and cell density. Ependymal rosettes are generally absent, so this lesion must be distinguished from astrocytic neoplasms, but its EM characteristics are ependymal. (Adapted from WHO.)" "" + "papillary ependymoma" "A rare variant of ependymoma characterized by well formed papillae. Tumor cell processes abutting capillaries are usually GFAP-positive. Differential diagnoses include choroid plexus papilloma, papillary meningioma and metastatic papillary carcinoma. (Adapted from WHO)" "" + "clear cell ependymoma" "An ependymoma, often supratentorial in location, characterized by the presence of ependymal cells with a perinuclear halo." "" + "brain stem ependymoma" "An ependymoma that arises from the brain stem." "" + "childhood ependymoma" "An ependymoma that arises from the central nervous system and occurs during childhood." "" + "toxic pneumonitis" "A pneumonia that is an acute inflammation of the lungs induced by inhalation of metal fumes or toxic gases and vapors. It is a sentinel health event (occupational) associated with exposure to ammonia (refrigeration, fertilizer, and oil refining industries), chlorine (alkali and bleach industries), nitrogen oxides (silo fillers, arc welders, and nitric acid industry), sulfur dioxide (paper, refrigeration, and oil refining industries), cadmium (processors and cadmium smelters), trimellitic anhydride (plastics and organic chemical synthesis), and vanadium pentoxide (boilermakers). The two types of pulmonary agents are central and peripheral. Central pulmonary agents, for example, ammonia, are water soluble irritants that injure the upper airways. Peripheral pulmonary agents, for example, phosgene, NOx, and PFIB, are slightly water soluble irritants that injure the alveolar-capillary membranes. Chlorine has both central and peripheral effects." "" + "pineal region dysgerminoma" "A dysgerminoma (disease) that involves the pineal body." "" + "dysgerminoma of ovary" "A malignant germ cell tumor arising from the ovary. Morphologically, it is identical to seminoma and consists of a monotonous population of germ cells with abundant pale cytoplasm and uniform nuclei. The stroma invariably contains chronic inflammatory cells, mostly T-lymphocytes. It responds to chemotherapy or radiotherapy and the prognosis relates to the tumor stage." "" + "Pediculus humanus corporis infestation" "A infectious disease involving the Pediculus humanus corporis." "" + "obsolete gastric squamous cell carcinoma" "" "true" + "obsolete penis squamous cell carcinoma" "" "true" + "obsolete colon squamous cell carcinoma" "" "true" + "basaloid squamous cell carcinoma" "A squamous cell carcinoma characterized by the presence of cells with hyperchromatic nuclei, scant amount of cytoplasm, and peripheral nuclear palisading." "" + "basaloid carcinoma" "A malignant epithelial neoplasm characterized by the presence of neoplastic cells with hyperchromatic nuclei, small amount of cytoplasm, and peripheral nuclear palisading." "" + "pseudoglandular squamous cell carcinoma" "A squamous cell carcinoma characterized by the formation of gland-like structures." "" + "obsolete anal squamous cell carcinoma" "" "true" + "obsolete middle ear squamous cell carcinoma" "" "true" + "ampulla of vater squamous cell carcinoma" "A carcinoma with squamous differentiation arising from the ampulla of Vater. Signs and symptoms include jaundice, abdominal pain, anorexia, nausea, vomiting, and weight loss." "" + "extrahepatic bile duct squamous cell carcinoma" "A carcinoma that arises from the extrahepatic bile ducts. It is composed entirely by malignant squamous epithelial cells." "" + "squamous cell carcinoma of the small intestine" "A carcinoma that arises from the small intestine. It is composed of malignant squamous cells." "" + "obsolete rectum squamous cell carcinoma" "" "true" + "lacrimal gland squamous cell carcinoma" "A squamous cell carcinoma that involves the lacrimal gland." "" + "thymus squamous cell carcinoma" "A rare primary thymic carcinoma, characterized by the presence of keratinizing or non-keratinizing malignant squamous cells. Approximately 10-20% of cases occur in combination with thymoma. The prognosis depends on the tumor stage and the degree of cellular differentiation." "" + "ovarian squamous cell carcinoma" "A usually high grade squamous cell carcinoma that arises from the ovary and is not associated with a germ cell tumor. The prognosis is poor." "" + "ovarian squamous cell neoplasm" "A squamous cell tumor that arises from the ovary and is not associated with a germ cell tumor." "" + "obsolete endometrial squamous cell carcinoma" "" "true" + "renal pelvis squamous cell carcinoma" "A squamous cell carcinoma that involves the renal pelvis." "" + "obsolete gallbladder squamous cell carcinoma" "" "true" + "sarcomatoid squamous cell skin carcinoma" "A squamous cell carcinoma of the skin with a prominent spindle cell component." "" + "keratinizing squamous cell carcinoma" "Squamous cell carcinomas with morphologically prominent production of keratin." "" + "squamous cell bile duct carcinoma" "A squamous cell carcinoma that involves the bile duct." "" + "squamous cell carcinoma of liver and intrahepatic biliary tract" "Squamous cell carcinoma of liver and intrahepatic biliary tract is an extremely rare, primary, malignant liver and biliray tract epithelial tumor originating in the intrahepatic bile duct epithelium histologically characterized by the presence of keratinization and/or intracellular bridges. Patients typically present abdominal pain in the right upper quadrant, jaundice, nausea, vomiting, anorexia, weight loss, fever and/or dyspepsia." "" + "ureter squamous cell carcinoma" "A rare squamous cell carcinoma that arises from the ureter." "" + "fallopian tube squamous cell carcinoma" "A rare squamous cell carcinoma that arises from the fallopian tube." "" + "anal canal neuroendocrine neoplasm" "A neoplasm with neuroendocrine differentiation that arises from the anal canal. It includes well differentiated neuroendocrine tumors (low and intermediate grade) and poorly differentiated neuroendocrine carcinomas (high grade)." "" + "femoral cancer" "A cancer involving a femur." "" + "neoplasm of femur" "A neoplasm (disease) that involves the femur." "" + "pulmonary artery choriocarcinoma" "A rare choriocarcinoma that arises from a pulmonary artery." "" + "choriocarcinoma" "An aggressive malignant tumor arising from trophoblastic cells. The vast majority of cases arise in the uterus and represent gestational choriocarcinomas that derive from placental trophoblastic cells. Approximately half of the cases develop from a complete hydatidiform mole. A minority of cases arise in the testis or the ovaries. There is often marked elevation of human chorionic gonadotropin (hCG) in the blood. Choriocarcinomas disseminate rapidly through the hematogenous route; the lungs are most frequently affected." "" + "choriocarcinoma of ovary" "A choriocarcinoma arising from the ovary. When it appears before puberty is of germ cell origin. In children and young adults signs and symptoms include precocious pseudopuberty and vaginal bleeding. Serum human chorionic gonadotropin is elevated. Germ cell derived ovarian choriocarcinoma should be differentiated from primary or metastatic gestational choriocarcinoma affecting the ovary. The prognosis of germ cell derived choriocarcinoma is less favorable and requires more aggressive chemotherapy treatment regimens compared to gestational choriocarcinoma." "" + "choriocarcinoma of testis" "A malignant germ cell tumor arising from the testis. It represents the rarest of the testicular germ cell tumors. Histologically it is characterized by the presence of syncytiotrophoblasts and cytotrophoblasts." "" + "pineal region choriocarcinoma" "A choriocarcinoma (disease) that involves the pineal body." "" + "choriocarcinoma of the central nervous system" "A malignant germ cell tumor of the central nervous system characterized by extra-embryonic differentiation along trophoblastic lines. The diagnosis requires the identification of cytotrophoblastic elements, as well as syncytiotrophoblastic giant cells. (WHO)" "" + "obsolete testicular germ cell cancer" "" "true" + "mediastinal mesenchymal tumor" "A benign or malignant soft tissue neoplasm of the mediastinum. Representative examples of benign mediastinal soft tissue neoplasms include chondroma, leiomyoma, lipoma, and rhabdomyoma. Representative examples of malignant mediastinal soft tissue neoplasms include angiosarcoma, leiomyosarcoma, liposarcoma, osteosarcoma, rhabdomyosarcoma, and synovial sarcoma." "" + "gastric teratoma" "A mature or immature teratoma that arises from the stomach." "" + "malignant teratoma" "A malignant form of teratoma." "" + "fallopian tube teratoma" "A teratoma that arises from the fallopian tube. It is a rare tumor, often found incidentally." "" + "adult teratoma" "A teratoma that occurs in an adult." "" + "mature teratoma" "A teratoma which may be cystic; it is composed entirely of well differentiated, adult-type tissues, without evidence of fetal-type tissues." "" + "mediastinum teratoma" "A teratoma that involves the mediastinum." "" + "extragonadal non-dysgerminomatous germ cell tumor" "" + "mediastinal germ cell tumor" "A germ cell tumor that arises from the mediastinum. Representative examples include seminoma, embryonal carcinoma, yolk sac tumor, teratoma, and mixed germ cell tumor." "" + "malignant syringoma" "A malignant form of syringoma." "" + "eccrine sweat gland cancer" "An cancer with eccrine differentiation arising from the sweat glands.B" "" + "obsolete malignant acrospiroma" "" "true" + "obsolete VIPoma" "" "true" + "male orgasm disorder" "Persistent delay or absence in orgasm not accounted for by a medical reason." "" + "orgasm disorder" "" + "gastrin-producing neuroendocrine tumor" "A gastrin-producing neuroendocrine tumor. It is usually located in the pancreas but it is also found at other anatomic sites, including the stomach and small intestine." "" + "gastric gastrin-producing neuroendocrine tumor" "A well differentiated neuroendocrine tumor that arises from the stomach. It produces gastrin and it may be associated with Zollinger-Ellison syndrome." "" + "gastric neuroendocrine tumor, well differentiated, low or intermediate grade" "A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the stomach." "" + "pancreatic gastrin-producing neuroendocrine tumor" "A usually malignant gastrin-producing neuroendocrine tumor arising from the pancreas. It may or may not be associated with inappropriate secretion of gastrin and an associated clinical syndrome." "" + "obsolete lung giant cell carcinoma" "" "true" + "obsolete Ferguson-Smith tumor" "A rare genetic neoplastic disorder with an autosomal dominant pattern of inheritance characterized by multiple, recurrent skin cancers that spontaneously resolve. It has been described almost exclusively in families of Scottish origin. It is caused by a mutation in the tumor-suppressing gene, TGFBR1, on chromosome 9. Clinical presentation is usually rapidly growing squamous cell carcinomas or keratoacanthomas that primarily localize to sun-exposed areas. Appearance of the neoplasms occurs over several weeks before receding over the course of several months if untreated. The regression of the lesions leaves pitting cicatrices but no other known sequelae." "" "true" + "Volkmann contracture" "An ischemic contracture of the forearm that most often occurs secondary to trauma." "" + "acute pyelonephritis" "Sudden onset pyelonephritis." "" + "aggressive digital papillary adenocarcinoma" "" + "digital papillary eccrine carcinoma" "An adenocarcinoma arising from the sweat glands. Most cases present as nodular lesions on the digits, usually in the hands. It is characterized by the presence of epithelial cells in the dermis forming nodules. Cystic structures containing papillary projections are also present. It may recur and metastasize, most commonly to the lungs." "" + "papillary eccrine carcinoma" "" + "eccrine carcinoma" "An adenocarcinoma with eccrine differentiation arising from the sweat glands. It includes the following subtypes: ductal eccrine adenocarcinoma, papillary eccrine carcinoma, and eccrine porocarcinoma." "" + "breast papillary carcinoma" "A breast carcinoma characterized by the formation of irregular, finger-like projections of fibrous stroma covered with neoplastic epithelial cells." "" + "breast ductal adenocarcinoma" "A breast carcinoma arising from the ducts. While ductal carcinomas can arise at other sites, this term is universally used to refer to carcinomas of the breast. Ductal carcinomas account for about two thirds of all breast cancers. Two types of ductal carcinomas have been described: ductal carcinoma in situ (DCIS) and invasive ductal carcinoma. The latter often spreads to the axillary lymph nodes and other anatomic sites. The two forms of ductal carcinoma often coexist." "" + "obsolete gastric papillary adenocarcinoma" "" "true" + "papillary thymic adenocarcinoma" "A rare primary thymic adenocarcinoma, characterized by a papillary growth pattern. There are only a few published cases, and no good data regarding prognosis." "" + "fallopian tube papillary adenocarcinoma" "An adenocarcinoma that arises from the fallopian tube and is characterized by a papillary architectural pattern." "" + "obsolete fallopian tube serous adenocarcinoma" "" "true" + "precursor T-lymphoblastic lymphoma/leukemia" "A neoplasm of lymphoblasts committed to the T-cell lineage, typically composed of small to medium-sized blast cells. When the neoplasm involves predominantly the bone marrow and the peripheral blood, it is called T acute lymphoblastic leukemia. When it involves nodal or extranodal sites it is called T lymphoblastic lymphoma. (WHO, 2001)" "" + "T-cell and NK-cell neoplasm" "" + "lymphoid neoplasm" "A neoplasm composed of a lymphocytic cell population which is usually malignant (clonal) by molecular genetic and/or immunophenotypic analysis. Lymphocytic neoplasms include Hodgkin and non-Hodgkin lymphomas, acute and chronic lymphocytic leukemias, and plasma cell neoplasms." "" + "T-cell adult acute lymphocytic leukemia" "An acute T-lymphoblastic leukemia occurring in adults." "" + "acute T cell leukemia" "" + "T-cell leukemia" "A malignant disease of the T-lymphocytes in the bone marrow, thymus, and/or blood." "" + "dental pulp calcification" "" + "intradural extramedullary spinal canal neoplasm" "A neoplasm that occurs within the spinal canal in the space between the spinal cord and the dura mater. Representative examples include meningioma, neurofibroma, and sarcoma. Signs and symptoms include local and radicular pain, weakness and spinal cord compression." "" + "obsolete histiocytic and dendritic cell cancer" "" "true" + "adenosquamous breast carcinoma" "An invasive breast carcinoma characterized by the presence of tubular and glandular neoplastic cell structures, admixed with islands of neoplastic cells showing squamous differentiation." "" + "adenosquamous carcinoma" "A carcinoma composed of malignant glandular cells and malignant squamous cells." "" + "squamous cell breast carcinoma" "A rare carcinoma that arises from the breast parenchyma and is entirely composed of squamous cells." "" + "adenosquamous bile duct carcinoma" "An adenosquamous carcinoma that arises from the bile ducts." "" + "liver adenosquamous carcinoma" "A rare carcinoma that arises from the intrahepatic bile ducts and is composed of malignant glandular cells and malignant squamous cells." "" + "esophageal adenosquamous carcinoma" "An esophageal carcinoma characterized by the presence of distinguishable squamous and glandular carcinomatous components." "" + "thymic adenosquamous carcinoma" "A rare carcinoma that arises from the thymus and is characterized by the presence of glandular and squamous carcinomatous components." "" + "obsolete adenosquamous gallbladder carcinoma" "" "true" + "ampulla of vater adenosquamous carcinoma" "A carcinoma with glandular and squamous differentiation arising from the ampulla of Vater. Signs and symptoms include jaundice, abdominal pain, anorexia, nausea, vomiting, and weight loss." "" + "extrahepatic bile duct adenosquamous carcinoma" "A carcinoma that arises from the extrahepatic bile ducts. It is characterized by the presence of glandular and squamous malignant epithelial components." "" + "adenosquamous colon carcinoma" "An unusual colon carcinoma characterized by the presence of glandular and squamous carcinomatous components. The two carcinomatous components may be admixed within the tumor, or the two may appear separately in different areas." "" + "colorectal adenosquamous carcinoma" "An unusual colorectal carcinoma characterized by the presence of glandular and squamous carcinomatous components. The two carcinomatous components may be admixed within the tumor, or the two may appear separately in different areas." "" + "squamous cell carcinoma of colon" "A squamous cell carcinoma that involves the colon." "" + "Bartholin gland adenosquamous carcinoma" "A carcinoma that arises from the Bartholin gland and is characterized by the presence of malignant glandular epithelial cells and malignant squamous epithelial cells." "" + "bartholin gland squamous cell carcinoma" "A carcinoma that arises from the Bartholin gland and is characterized by the presence of malignant squamous epithelial cells." "" + "endometrial adenosquamous carcinoma" "A rare endometrial carcinoma characterized by the presence of both malignant glandular and malignant squamous cellular components." "" + "endometrial squamous cell carcinoma" "A primary carcinoma of the endometrium characterized by the presence of malignant squamous cells." "" + "optic nerve sheath meningioma" "A meningioma that affects the sheath of the optic nerve." "" + "adenosquamous prostate carcinoma" "An infrequent invasive carcinoma of the prostate gland characterized by the presence of both glandular and squamous neoplastic components. It is more often located in the transitional zone of the prostate gland and it tends to rapidly metastasize to the bones." "" + "obsolete cervical adenosquamous carcinoma" "" "true" + "obsolete adenosquamous pancreas carcinoma" "" "true" + "malignant giant cell tumor of soft parts" "An undifferentiated pleomorphic sarcoma characterized by the presence of osteoclast-like giant cells and cellular pleomorphism." "" + "diffuse pulmonary fibrosis" "Diffuse replacement of the lung tissue by connective tissue." "" + "localized pulmonary fibrosis" "Replacement of the lung tissue by connective tissue in a specific area of the lung." "" + "urethral villous adenoma" "An epithelial neoplasm of the urethra, which is morphologically characterized by the presence of a villous architectural pattern." "" + "urethra neoplasm" "A neoplasm (disease) that involves the urethra." "" + "obsolete choroid plexus carcinoma" "" "true" + "bilateral hypoactive labyrinth" "" + "disorder of optic chiasm" "A disease that involves the optic chiasma." "" + "lipid-rich carcinoma" "A carcinoma characterized by the presence of malignant epithelial cells with clear cytoplasm which contains neutral lipids. A representative example is the lipid-rich breast carcinoma." "" + "obsolete labyrinthine dysfunction" "" "true" + "nasopharyngeal type undifferentiated carcinoma" "A nonkeratinizing carcinoma which occurs predominantly in the nasopharynx but also in the tonsils and rarely in other anatomic sites. It is characterized by the presence of large malignant cells with vesicular nuclei, prominent nucleoli, syncytial growth pattern, and a lymphoplasmacytic infiltrate." "" + "pleomorphic carcinoma" "A usually aggressive malignant epithelial neoplasm composed of cells with significant cytologic atypia and nuclear pleomorphism." "" + "comedocarcinoma" "A high grade carcinoma characterized by the presence of comedo-type of tumor cell necrosis in which the necrotic areas are surrounded by a solid proliferation of malignant pleomorphic cells." "" + "" "true" + "colorectal cancer" "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." "" + "obsolete cribriform carcinoma" "" "true" + "extragonadal nonseminomatous germ cell tumor" "A malignant non-seminomatous germ cell tumor that develops as a primary tumor in an anatomic site other than the testis or ovary." "" + "obsolete embryonal testis carcinoma" "" "true" + "ovarian embryonal carcinoma" "An embryonal carcinoma arising from the ovary. Signs and symptoms include the presence of an abdominal mass and abdominal pain." "" + "embryonal carcinoma" "A non-seminomatous malignant germ cell tumor characterized by the presence of large germ cells with abundant cytoplasm resembling epithelial cells, geographic necrosis, high mitotic activity, and pseudoglandular and pseudopapillary structures formation. It can arise from the testis, ovary, and extragonadal sites (central nervous system and mediastinum)." "" + "malignant non-dysgerminomatous germ cell tumor of ovary" "A malignant germ cell tumor other than dysgerminoma that arises from the ovary." "" + "hereditary breast ovarian cancer syndrome" "An autosomal dominant inherited syndrome caused by mutations in the BRCA1 or BRCA2 genes. Patients are at high risk of developing breast cancer, particularly before the age of fifty, high risk of developing a second primary breast cancer, and high risk of developing both breast and ovarian cancer." "" + "familial ovarian cancer" "An instance of ovarian cancer that is caused by an inherited modification of the individual's genome." "" + "hereditary breast carcinoma" "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." "" + "obsolete rare malignant breast tumor" "Any of the forms of breast cancer that have a rare incidence." "True" "true" + "obsolete atypical lipomatous tumor" "" "true" + "cerebral cortex disorder" "A disease or disorder that involves the cerebral cortex." "" + "adult liposarcoma" "A malignant neoplasm arising from adipocytes, that occurs in adults. The tumor maybe one of several histologic types including well-differentiated, dedifferentiated, myxoid/round cell, and pleomorphic liposarcoma." "" + "esophagus liposarcoma" "A malignant adipose tissue neoplasm of the esophagus, characterized by multivacuolated lipoblasts with hyperchromatic nuclei, a solid pattern of growth, and a rich vascular network. It arises from the mucosal and submucosal layers of the lower esophagus. Clinical presentation includes progressive dysphagia, nausea, throat discomfort, and foreign body sensation." "" + "pediatric liposarcoma" "A rare malignant neoplasm arising from adipocytes, that occurs in children. The tumor maybe one of several histologic types including well-differentiated, dedifferentiated, myxoid/round cell, and pleomorphic liposarcoma." "" + "larynx liposarcoma" "A rare malignant adipose tissue neoplasm of the larynx. It predominantly affects males. Clinical presentation includes dysphonia, dysphagia and respiratory symptoms. The supraglottis is the most common site of involvement." "" + "liposarcoma of the ovary" "A malignant adipose tissue neoplasm of the ovary." "" + "fibroblastic liposarcoma" "A liposarcoma characterized by the presence of a fibroblastic component." "" + "kidney liposarcoma" "A rare malignant adipose tissue neoplasm of the fat cells surrounding the kidney, usually of the well-differentiated or myxoid type. It may be associated with tuberous sclerosis." "" + "gastric liposarcoma" "A malignant adipose tissue neoplasm of the stomach." "" + "breast liposarcoma" "A malignant adipose tissue neoplasm of the breast." "" + "mixed liposarcoma" "A malignant neoplasm characterized by the presence of a combination of liposarcomatous morphologic subtypes: myxoid/round cell and well differentiated/dedifferentiated liposarcoma or myxoid/round cell and pleomorphic liposarcoma." "" + "sclerosing liposarcoma" "A morphologic variant of well differentiated liposarcoma occurring most often in the retroperitoneum and paratesticular area. It is characterized by the presence of bizarre hyperchromatic stromal cells and rare multivacuolated lipoblasts within a fibrous stroma." "" + "well-differentiated liposarcoma" "A locally aggressive malignant neoplasm composed of mature adipocytes showing cell size variation and nuclear atypia. It is often associated with the presence of hyperchromatic multinucleated stromal cells, and varying numbers of lipoblasts. There are three histologic subtypes, sclerosing, inflammatory, and spindle cell liposarcoma. These tumors do not usually metastasize unless they undergo dedifferentiation." "" + "atypical lipomatous tumor" "An intermediate, locally aggressive lipomatous neoplasm. Microscopically, the adipose tissue contains large and pleomorphic lipoblasts, and is dissected by fibrous septa containing spindle cells. It requires a wide local excision, may recur locally, but never metastasizes." "" + "spindle cell liposarcoma" "A morphologic variant of well differentiated liposarcoma characterized by the presence of bland spindle cells and lipoblasts within a myxoid or fibrous stroma." "" + "" "true" + "myxoid liposarcoma" "A liposarcoma characterized by the presence of round non-lipogenic primitive mesenchymal cells and small signet ring lipoblasts within a myxoid stoma with a branching vascular pattern. This category includes hypercellular lesions with round cell morphology, formerly known as round cell liposarcoma." "" + "median nerve neuropathy" "Disease involving the median nerve, from its origin at the brachial plexus to its termination in the hand. Clinical features include weakness of wrist and finger flexion, forearm pronation, thenar abduction, and loss of sensation over the lateral palm, first three fingers, and radial half of the ring finger. Common sites of injury include the elbow, where the nerve passes through the two heads of the pronator teres muscle (pronator syndrome) and in the carpal tunnel (carpal tunnel syndrome)." "" + "vulvar liposarcoma" "A rare malignant adipose tissue neoplasm of the vulva." "" + "cutaneous liposarcoma" "A malignant adipose tissue neoplasm of the skin." "" + "mediastinum liposarcoma" "A malignant adipose tissue neoplasm of the anterior, middle or posterior mediastinum." "" + "intracranial liposarcoma" "A malignant adipose tissue neoplasm of the intracranial region." "" + "non-functioning pituitary gland neoplasm" "A hormone producing or non-producing pituitary gland adenoma or carcinoma, not associated with a hormonal syndrome." "" + "non-functioning endocrine neoplasm" "A hormone producing or non-producing endocrine neoplasm, not associated with a hormonal syndrome." "" + "functioning endocrine neoplasm" "A hormone producing endocrine neoplasm, associated with a hormonal syndrome." "" + "obsolete adrenal neuroblastoma" "A neuroblastoma arising from the adrenal gland." "" "true" + "adrenal medulla cancer" "A malignant neoplasm involving the adrenal medulla" "" + "adrenal medulla neoplasm" "A neoplasm (disease) that involves the adrenal medulla." "" + "seminal vesicle cystadenoma" "A rare benign cystadenoma that arises from the seminal vesicle." "" + "rete ovarii cystadenoma" "An exceptionally rare cystadenoma that arises from the rete ovarii." "" + "rete ovarii adenoma" "An adenoma that arises from the rete ovarii. It is composed of elongated tubules. The clinical course is benign." "" + "uterine ligament papillary cystadenoma associated with von Hippel-Lindau disease" "A benign mesonephric neoplasm that arises from the uterine ligament and occurs in women with von Hippel-Lindau disease. It is a cystic lesion characterized by the presence of multiple papillary excrescences." "" + "papillary cystadenoma" "A serous or mucinous benign or low malignant potential cystic epithelial neoplasm. It is characterized by the presence of glandular epithelial cells forming papillary structures." "" + "von Hippel-Lindau disease" "Von Hippel-Lindau disease (VHL) is a familial cancer predisposition syndrome associated with a variety of malignant and benign neoplasms, most frequently retinal, cerebellar, and spinal hemangioblastoma, renal cell carcinoma (RCC), and pheochromocytoma." "" + "uterine ligament neoplasm" "A benign, borderline, or malignant neoplasm that affects the uterine ligaments. Representative examples include Wolffian adnexal tumor, papillary cystadenoma, and adenocarcinoma." "" + "obsolete diffuse peritoneal leiomyomatosis" "" "true" + "intravenous leiomyomatosis" "A rare benign neoplasm characterized by the presence of smooth muscle cells growing within veins." "" + "nerve compression syndrome" "Any nerve disorder caused by the entrapment and compression of a nerve." "" + "salpingitis isthmica nodosa" "Formation of nodules in the isthmus of the fallopian tube due to fallopian tube diverticulosis. It may cause infertility or ectopic pregnancy." "" + "pyosalpinx" "The presence of pus in the fallopian tube. It is usually caused by acute salpingitis. The fallopian tube is distended and filled with pus. Histologic examination reveals edema and acute and chronic inflammation. Symptoms include fever, vaginal discharge, and pelvic pain." "" + "small intestinal vasoactive intestinal peptide producing tumor" "A neuroendocrine tumor that arises from the small intestine and produces vasoactive intestinal peptide." "" + "VIPoma" "VIPoma is an extremely rare type of pancreatic neuroendocrine tumor that secretes vasoactive intestinal polypeptide (VIP) leading to the manifestations of watery diarrhea, hypokalemia and achlorhydia or hypochhlorhydia (known as WDHA syndrome)." "" + "pancreatic vasoactive intestinal peptide producing tumor" "A usually malignant pancreatic neuroendocrine tumor producing vasoactive intestinal peptide (VIP). It may or may not be associated with inappropriate secretion of VIP and an associated clinical syndrome." "" + "obsolete pancreatic acinar cell adenocarcinoma" "" "true" + "acinic cell breast carcinoma" "A breast adenocarcinoma characterized by the presence of serous (acinic cell) differentiation." "" + "breast carcinoma" "A carcinoma that arises from epithelial cells of the breast" "" + "" "true" + "ovarian serous adenocarcinoma" "An adenocarcinoma that arises from the ovary and is characterized by the presence of malignant epithelial cells that, in well differentiated tumors, resemble the epithelium of the fallopian tube or, in poorly differentiated tumors, show anaplastic features and marked nuclear atypia." "" + "uterine ligament serous adenocarcinoma" "A rare serous adenocarcinoma that arises from the uterine ligament." "" + "cervical serous adenocarcinoma" "A rare adenocarcinoma that arises from the cervix. It is characterized by the presence of papillary patterns and cellular budding. Psammoma bodies are often seen." "" + "rheumatic pulmonary valve disease" "A rheumatologic disorder that involves the pulmonary valve." "" + "uterine corpus serous adenocarcinoma" "A serous adenocarcinoma that involves the uterine corpus." "" + "pancreatic serous cystadenocarcinoma" "A metastasizing, slow-growing malignant epithelial neoplasm that arises from the exocrine pancreas. It is characterized by the presence of cysts and is composed of glycogen-rich malignant epithelial cells which produce a watery fluid. Signs and symptoms include upper gastrointestinal bleeding, weight loss, jaundice, and abdominal pain." "" + "endocervicitis" "Inflammation of the endocervix." "" + "malignant mesenchymoma" "A term describing a malignant soft tissue tumor which consists of two or more mesenchymal lines of differentiation, excluding a fibroblastic line of differentiation." "" + "proteinuria" "The presence of abnormal amounts of protein in the urine." "" + "sebaceous breast carcinoma" "A very rare breast adenocarcinoma with sebaceous differentiation." "" + "sebaceous adenocarcinoma" "An adenocarcinoma with sebaceous differentiation. It presents as a painless mass and it may be multifocal. It grows in the ocular adnexae and in the skin of head and neck, trunk, genitals, and extremities. It is characterized by the presence of malignant cells with multivesicular and clear cytoplasm. It may recur and metastasize." "" + "vulvar sebaceous carcinoma" "A carcinoma that arises from the vulva. It is characterized by the presence of malignant basaloid glandular epithelial cells that resemble sebaceous epithelium and are arranged in cords and nests." "" + "clear cell-sugar-tumor of the lung" "A rare benign lung tumor with perivascular epithelioid cell differentiation. It is composed of round or oval cells with abundant clear or eosinophilic cytoplasm and distinct cell borders. The vast majority of patients are asymptomatic and the tumors are discovered incidentally. Excision is curative." "" + "benign PEComa" "A tumor with perivascular epithelioid cell differentiation characterized by the absence of pleomorphism and scarcity or absence of mitotic figures." "" + "lung PEComa" "A lung tumor that arises from perivascular epithelioid cells (PECs)." "" + "lung meningioma" "A primary or metastatic meningioma that is present in the lung. The lung is the most frequent site of metastasis of meningiomas." "" + "lung hilum neoplasm" "A benign or malignant neoplasm that arises from the hilar region of the lung." "" + "verruciform xanthoma of skin" "A rare, benign wart-like skin lesion of unknown etiology that is usually found in the genital or perianal area and consists of hyperkeratosis and aggregates of foam cell macrophages." "" + "hematopoietic and lymphoid cell neoplasm" "A neoplasm arising from hematopoietic cells found in the bone marrow, peripheral blood, lymph nodes and spleen (organs of the hematopoietic system). Hematopoietic cell neoplasms can also involve other anatomic sites (e.g. central nervous system, gastrointestinal tract), either by metastasis, direct tumor infiltration, or neoplastic transformation of extranodal lymphoid tissues. The commonest forms are the various types of leukemia, Hodgkin and non-Hodgkin lymphomas, myeloproliferative neoplasms, and myelodysplastic syndromes." "" + "obsolete oral submucous fibrosis" "" "true" + "giant hemangioma" "A cavernous hemangioma characterized by the presence of hylanized vascular channels and is often associated with the presence of calcifications, fibrosis, and hemorrhage." "" + "cavernous hemangioma of colon" "A cavernous hemangioma arising from the colon." "" + "cavernous hemangioma of face" "A cavernous hemangioma arising from the face." "" + "atrophic flaccid tympanic membrane" "" + "mixed hepatoblastoma" "A hepatoblastoma characterized by the presence of fetal and embryonal epithelial components and a mesenchymal component." "" + "hepatoblastoma" "Hepatoblastoma (HB) is a malignant hepatic tumor and is the most common pediatric liver cancer. It is characterized by anorexia, weight loss and an enlarged abdomen. HB is more common in patients with familial adenomatous polyposis (FAP), and can occur in patients with other pre-existing liver conditions. About 5% of HB cases are associated with genetic factors, especially overgrowth syndromes, such as Beckwith-Wiedemann syndrome (BWS) or hemihypertrophy." "" + "macrotrabecular hepatoblastoma" "A pure fetal or fetal and embryonal epithelial hepatoblastoma characterized by the presence of broad trabeculae." "" + "acute urate nephropathy" "Urolithiasis in which the composition of the stones is predominantly urate." "" + "nephrolithiasis" "The presence of a calculus in the pelvis of the kidney; this is most often composed of mineral salts and proteins." "" + "stork bite" "" + "capillary malformation" "" + "childhood parosteal osteosarcoma" "A low grade malignant bone-forming mesenchymal neoplasm arising from the surface of the bone. It occurs in childhood and usually affects the distal posterior femur, the proximal tibia, and proximal humerus. Painless swelling is the usual clinical sign. The prognosis is usually excellent." "" + "juxtacortical osteosarcoma" "A low grade malignant bone-forming mesenchymal neoplasm arising from the surface of the bone. It usually affects the distal posterior femur, the proximal tibia, and proximal humerus. Painless swelling is the usual clinical sign. Most patients are young adults and the prognosis is usually excellent." "" + "cerebral lymphoma" "A non-Hodgkin or Hodgkin lymphoma that arises in the cerebral hemispheres as a primary lesion." "" + "hemoglobinuria" "A laboratory test result which indicates free hemoglobin in the urine." "" + "obsolete methotrexate-associated lymphoproliferation" "" "true" + "B-cell lymphoma, unclassifiable, with features intermediate between diffuse large b-cell lymphoma and classical Hodgkin lymphoma" "A group of lymphomas displaying molecular, morphologic, immunophenotypic, and clinical overlap between classical Hodgkin lymphoma and diffuse large B-cell lymphoma. This term particularly applies to mediastinal lymphomas with overlapping features of mediastinal (thymic) large B-cell lymphoma and classical Hodgkin lymphoma." "" + "breast lymphoma" "A lymphoma that arises from the breast. There is no history of extramammary breast lymphoma and ipsilateral axillary lymph node involvement does not exclude the diagnosis of primary breast lymphoma. Most patients present with a painless breast lump. The vast majority of cases are B-cell non-Hodgkin lymphomas. Diffuse large B-cell lymphoma, follicular lymphoma, and extranodal marginal zone B-cell lymphoma of mucosa associated lymphoid tissue are the most common types of primary non-Hodgkin lymphoma of the breast. Primary Hodgkin lymphoma of the breast is rare." "" + "obsolete endometrioid ovary carcinoma" "" "true" + "uterine ligament endometrioid adenocarcinoma" "A rare endometrioid adenocarcinoma that arises from the uterine ligament. Some of the reported cases were associated with endometriosis." "" + "endometrioid adenocarcinoma" "An adenocarcinoma characterized by the presence of malignant glandular epithelial cells resembling endometrial cells. It can arise from the uterine body, ovary, fallopian tube, cervix, vagina, and uterine ligament." "" + "cervical endometrioid adenocarcinoma" "A cervical adenocarcinoma with the histologic characteristics of the endometrioid adenocarcinoma of the endometrium." "" + "normocytic anemia" "Anemia in which the red blood cell volume is normal." "" + "fallopian tube endometrioid adenocarcinoma" "An adenocarcinoma that arises from the fallopian tube and resembles the endometrioid adenocarcinoma of the uterus. It usually has a favorable prognosis." "" + "obsolete spermatocytoma" "" "true" + "extragonadal seminoma" "" + "testicular seminoma" "A malignant germ cell tumor arising from the testis. It is believed that it is derived from the sexually undifferentiated embryonic gonad. Treatment with radiotherapy is highly successful when the tumor is diagnosed in localized stages, which represents the majority of presentations of seminoma." "" + "posteroinferior myocardial infarction" "An electrocardiographic finding of an injury in leads corresponding to the anatomic region of the posteroinferior wall of the heart." "" + "myocardial infarction" "Gross necrosis of the myocardium, as a result of interruption of the blood supply to the area, as in coronary thrombosis." "" + "septal myocardial infarction" "A myocardial infarction (disease) that involves the cardiac septum." "" + "posterior myocardial infarction" "" + "apical myocardial infarction" "An electrocardiographic finding of an injury in leads corresponding to the anatomic region of the apex of the heart." "" + "posterolateral myocardial infarction" "An electrocardiographic finding of an injury in leads corresponding to the anatomic region of the posterolateral wall of the heart." "" + "inferolateral myocardial infarct" "An electrocardiographic finding of an injury in leads corresponding to the anatomic region of the inferolateral wall of the heart." "" + "lateral myocardial infarction" "" + "silent myocardial infarction" "A history of myocardial infarction in the absence of clinical symptoms and positive electrocardiographic findings." "" + "anteroseptal myocardial infarction" "" + "periosteal chondrosarcoma" "A chondrosarcoma arising from the surface of bone. It is characterized by a lobulated growth pattern, high mitotic activity, myxoid stroma formation, and necrotic changes. It occurs in adults. Clinical presentation includes pain, and sometimes swelling." "" + "myxoid chondrosarcoma" "A chondrosarcoma characterized by the presence of myxoid changes." "" + "localized chondrosarcoma" "A non-disseminated skeletal or extraskeletal chondrosarcoma." "" + "" "true" + "clear cell chondrosarcoma" "A rare, usually low grade chondrosarcoma characterized by the presence of tumor cells with clear cytoplasm. It usually arises in the epiphyseal ends of long bones." "" + "retroperitoneal germ cell neoplasm" "A germ cell tumor that involves the retroperitoneal space." "" + "endocardium cancer" "A malignant neoplasm involving the endocardium." "" + "neoplasm of endocardium" "A neoplasm (disease) that involves the endocardium." "" + "well differentiated papillary mesothelioma" "A localized or multifocal mesothelioma arising from the peritoneum and less often the pleura. Cases arising from the peritoneum predominantly occur in women. It is characterized by the formation of papillae, covered by a single layer of blunt mesothelial cells. Mitotic figures are not present. There is no evidence of severe cytologic atypia. It has a relatively favorable clinical outcome, compared to malignant mesothelioma." "" + "adult anaplastic ependymoma" "An anaplastic ependymoma occurring in adults." "" + "anaplastic ependymoma" "Anaplastic ependymoma is a rare, malignant type of ependymoma that most often arises in the supratentorial region of the brain of children and young adults and that manifests with variable symptoms including headaches, nausea, vision impairment, memory loss and difficulty walking." "" + "childhood malignant mesenchymoma" "A malignant mesenchymoma occurring in children." "" + "adult malignant mesenchymoma" "A malignant mesenchymoma occurring in adults." "" + "clear cell cystadenofibroma" "A benign neoplasm characterized by the presence of cystic glandular and fibrous tissues and clear cells." "" + "ovarian clear cell cystadenofibroma" "A benign neoplasm of glandular epithelium characterized by the presence of clear or hobnail cells within a dense fibrous stroma and cystic structures." "" + "ovarian clear cell adenofibroma" "An uncommon benign neoplasm of glandular epithelium characterized by the presence of clear or hobnail cells within a dense fibrous stroma." "" + "obsolete meningeal melanocytoma" "" "true" + "non-invasive verrucous carcinoma of the penis" "" + "penis verrucous carcinoma" "A slow growing, locally recurring, very well differentiated papillary squamous cell carcinoma that arises from the penis. It is characterized by the presence of acanthosis and hyperkeratosis. The neoplastic infiltrate extends into the underlying stroma with a pushing border. Koilocytotic atypia is not present." "" + "papillary carcinoma of the penis" "A squamous cell carcinoma that arises from the penis and is characterized by the presence of a papillary growth pattern." "" + "brachial plexus neoplasm" "A neoplasm (disease) that involves the brachial nerve plexus." "" + "thyroid gland diffuse sclerosing papillary carcinoma" "A morphologic variant of papillary carcinoma of the thyroid gland that more often affects young patients and commonly metastasizing to the lungs. It is characterized by a diffuse infiltration of the thyroid gland by malignant follicular cells, squamous metaplasia, stromal fibrosis, and lymphocytic infiltration." "" + "thyroid gland papillary carcinoma" "A differentiated adenocarcinoma arising from the follicular cells of the thyroid gland. Radiation exposure is a risk factor and it is the most common malignant thyroid lesion, comprising 75% to 80% of all thyroid cancers in iodine sufficient countries. Diagnostic procedures include thyroid ultrasound and fine needle biopsy. Microscopically, the diagnosis is based on the distinct characteristics of the malignant cells, which include enlargement, oval shape, elongation, and overlapping of the nuclei. The nuclei also display clearing or have a ground glass appearance." "" + "uterus intravascular leiomyomatosis" "A rare benign neoplasm characterized by the presence of smooth muscle cells growing within the veins of the uterine corpus. The intravascular neoplasm growth occurs outside the confines of an adjacent leiomyoma." "" + "uterine corpus diffuse leiomyomatosis" "An unusual condition characterized by the presence of numerous small benign smooth muscle neoplasms located throughout the body of the uterus." "" + "obsolete uterine corpus leiomyomatosis" "" "true" + "adult brainstem mixed glioma" "" + "adult brainstem astrocytoma" "" + "distal biliary tract carcinoma" "A carcinoma that arises from the common bile duct distal to the insertion of the cystic duct." "" + "extrahepatic bile duct small cell adenocarcinoma" "An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the extrahepatic bile ducts. It is characterized by the presence of malignant small cells." "" + "liver neuroendocrine carcinoma" "An extremely rare, aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the liver." "" + "agoraphobia" "An anxiety disorder characterized by an intense, irrational fear of venturing out into open places or situations in which help (or escape) might not be available should excessive anxiety or panic symptoms develop." "" + "ovarian mixed germ cell neoplasm" "An ovarian malignant germ cell tumor characterized by the presence of at least two different germ cell components. At least one of the germ cell components is primitive. The most common combination of germ cell elements is dysgerminoma and yolk sac tumor." "" + "obsolete malignant peripheral nerve sheath tumor" "" "true" + "angiokeratoma of mibelli" "" + "angiokeratoma circumscriptum" "" + "bladder urachal squamous cell carcinoma" "" + "bladder urachal carcinoma" "Urachal cancer is a type of bladder cancer, making up less than 1% of all bladder cancers. The urachus is a structure normally only present during development in the womb that connects the bellybutton and the bladder. This connection normally disappears before birth, but in some people remains. Urachalcancers are usually diagnosed in adults in their 50's and 60's and may develop at the dome or anterior wall of the bladder, along the midline of the body (including the belly button), and between the pubis symphasis and the bladder.Most urachal cancersare adenocarcinomas (cancers that develop from gland cells).Others may besarcomas (which develop from connective tissue -such as leiomyosarcoma, rhabdomyosarcoma, and malignant fibrous histiocytoma), small cell carcinomas, transitional cell cancer, and mixed neoplasias. Most individuals with urachal cancer have symptoms of with hematuria (blood in urine). Other symptoms may include abdominal pain, a palpable abdominal mass, mucinuria, and bacteriuria. Treatment usually involved surgery to remove the cancer." "" + "renal pelvis papillary urothelial carcinoma" "A papillary transitional cell carcinoma that arises from the renal pelvis." "" + "renal pelvis papillary tumor" "A papillary tumor originating in the renal pelvis." "" + "papillary transitional cell carcinoma" "A non-invasive or invasive transitional cell carcinoma characterized by a papillary growth pattern. It may occur in the bladder or the renal pelvis." "" + "renal pelvis neoplasm" "A neoplasm (disease) that involves the renal pelvis." "" + "kidney fibrosarcoma" "A usually aggressive malignant neoplasm arising from the kidney. It is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation in a herringbone growth pattern." "" + "kidney osteogenic sarcoma" "An osteosarcoma arising from the kidney." "" + "internal auditory canal meningioma" "A meningioma that affects the internal auditory canal." "" + "blunt duct adenosis of breast" "Breast adenosis characterized by the presence of ducts with distended lumen and columnar cell metaplasia." "" + "non-proliferative fibrocystic change of the breast" "Breast fibrocystic change characterized by the absence of epithelial cell hyperplasia." "" + "breast adenosis" "A non-neoplastic disorder characterized by epithelial and/or myoepithelial tissue growth in the breast lobules. It may be associated with apocrine changes or sclerosis." "" + "apocrine adenosis of breast" "Breast adenosis characterized by the presence of extensive apocrine metaplasia." "" + "animal phobia" "An overwhelming, irrational, and persistent fear of animals." "" + "breast fibrosarcoma" "A usually aggressive malignant neoplasm arising from the breast. It is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation in a herringbone growth pattern." "" + "aleukemic leukemia cutis" "Infiltration of the skin and subcutaneous tissue by leukemic cells without evidence of leukemia in the bone marrow and peripheral blood. It results in clinically identifiable skin lesions. It may be the first manifestation of acute leukemia, preceding the involvement of the bone marrow and peripheral blood by the leukemic process." "" + "adult central nervous system teratoma" "A mature or immature teratoma affecting the central nervous system and occurring in adults." "" + "adult central nervous system mature teratoma" "A central nervous system mature teratoma that occurs in an adult." "" + "central nervous system mature teratoma" "A teratoma composed exclusively of fully differentiated, 'adult-type' tissue elements that are sometimes arranged in a pattern resembling normal tissue relationships. Mitotic activity is low or absent. The more common ectodermal components present in a mature teratoma include skin, brain and choroid plexus. The more common mesodermal components include cartilage, bone, fat and muscle (both smooth and striated). And the most common endodermal components are cysts lined by epithelia of respiratory or enteric type and in some cases pancreatic or hepatic tissue. (Adapted from WHO)" "" + "adult central nervous system immature teratoma" "" + "central nervous system immature teratoma" "A variant of teratoma composed of incompletely differentiated components resembling fetal tissues. Even if the immature component is only a minor element of an otherwise differentiated teratoma, the tumor is still classified as immature. (Adapted from WHO)" "" + "cancerophobia" "An overwhelming, irrational, and persistent fear of being diagnosed with cancer." "" + "malignant testicular Leydig cell tumor" "A Leydig cell tumor characterized by a large size, cellular atypia, high mitotic activity, vascular invasion and necrotic changes. The prognosis is usually poor." "" + "selective IgE deficiency disease" "A rare dysgammaglobulinemia characterized by low or undetectable serum levels of immunoglobulin class E (IgE). It is an uncommon primary antibody deficiency. It is most likely an inherited immunodeficiency. It may be caused by decreased or inefficient class-switching from progenitor B cells without any corresponding decreases in the other isotypes. Most affected persons appear asymptomatic but may show a predisposition to autoimmune and respiratory diseases." "" + "AIDS phobia" "An overwhelming, irrational, and persistent fear of contracting Acquired Immune Deficiency Syndrome." "" + "juvenile type testicular granulosa cell tumor" "A rare sex cord-stromal tumor that arises from the testis. It is the most frequent congenital testicular neoplasm and is usually diagnosed during the perinatal period. It usually presents as an asymptomatic scrotal or abdominal mass. Morphologically it is characterized by the presence of cysts that are lined by cells resembling granulosa and theca cells." "" + "heart fibrosarcoma" "A usually aggressive malignant neoplasm arising from the heart. It is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation in a herringbone growth pattern." "" + "heart malignant hemangiopericytoma" "A malignant hemangiopericytoma arising in the heart." "" + "spindle cell intraocular melanoma" "A melanoma arising from the choroid, ciliary body, or the iris. It is characterized by the presence of spindle-shaped melanocytes." "" + "uveal melanoma" "A melanoma derived from melanocytes of the uveal tract. It is the most common primary intraocular tumor in the United States and Western Europe. Similar to melanoma of the skin, it is rare in Africa and Asia. Diagnostic procedures include ophthalmoscopic exam, fluorescein angiography and ultrasound. Treatment includes: surgical excision of the eye, iridocyclectomy and tumor resection. Recent treatments also include radiotherapy or photo coagulation. Classification of uveal melanomas recognizes four cell types within these tumors: epithelioid, intermediate, mixed cell, and spindle cell types. The spindle cell type uveal melanomas are further sub-classified as spindle cell type A and spindle cell type B." "" + "spindle cell melanoma" "A melanoma characterized by the presence of malignant spindle-shaped melanocytes." "" + "choroid spindle cell melanoma" "A spindle cell melanoma that involves the optic choroid." "" + "malignant choroid melanoma" "A uveal melanoma that arises from the choroid. It is the most common primary malignant intraocular tumor. It usually affects Caucasians of northern European descent. It usually remains asymptomatic for a long period. When signs and symptoms occur, they include blurred vision, visual field loss, floaters, and ocular pain. Tumor size is the most important factor that relates to prognosis." "" + "ciliary body spindle cell melanoma" "A spindle cell melanoma that involves the ciliary body." "" + "malignant ciliary body melanoma" "A rare uveal melanoma that arises from the ciliary body. Patients may present with blurred vision, visual field loss, floaters, and ocular pain. The prognosis is usually poor." "" + "iris spindle cell melanoma" "A spindle cell melanoma that involves the iris." "" + "telangiectatic glomangioma" "A glomus tumor characterized by huge vascular channel formations." "" + "flying phobia" "An overwhelming, irrational, and persistent fear of traveling in an aircraft." "" + "upper digestive tract disorder" "A disease or disorder that involves the upper digestive tract." "" + "childhood germ cell tumor" "A germ cell tumor that occurs during childhood." "" + "frontal sinus Schneiderian papilloma" "A papilloma that arises from the ciliated respiratory mucosa that lines the frontal sinus. It is classified as inverted papilloma and oncocytic papilloma." "" + "paranasal sinus Schneiderian papilloma" "A papilloma that arises from the ciliated respiratory mucosa that lines the paranasal sinuses. It is classified as inverted papilloma and oncocytic papilloma." "" + "benign neoplasm of frontal sinus" "A benign neoplasm that involves the frontal sinus." "" + "nasal vestibule squamous papilloma" "A benign exophytic squamous cell neoplasm with papillary growth that arises from the nasal vestibule." "" + "benign neoplasm of nasal cavity" "A benign neoplasm that involves the nasal cavity." "" + "Brown-Sequard syndrome" "Brown-Sequard syndrome is a rare neurological condition that results from an injury or damage to one side of the spinal cord. This condition results in weakness or paralysis on one side of the body (hemiparaplegia) and a loss of sensation on the opposite side (hemianesthesia). Brown-Sequard syndrome most commonly occurs in the the thoracic spine (upper and middle back). There are several causes of Brown-Sequard syndrome, including: a spinal cord tumor, trauma (such as a puncture wound to the neck or back), infectious or inflammatory diseases (tuberculosis or multiple sclerosis), and disk herniation. Treatment for this condition varies depending on the underlying cause." "" + "paraplegia" "Complete paralysis of the lower half of the body including both legs, often caused by damage to the spinal cord." "" + "urinary tract non-invasive transitional cell neoplasm" "" + "ovarian mucinous neoplasm" "A benign, borderline, or malignant epithelial tumor of the ovary characterized by the presence of neoplastic epithelial cells that contain intracytoplasmic mucin and may resemble the epithelial cells of the endocervix or gastrointestinal tract." "" + "childhood testicular germ cell tumor" "A germ cell tumor that arises from the testis during childhood." "" + "childhood gonadal germ cell tumor" "A germ cell tumor that arises from the testis or ovary and occurs during childhood." "" + "childhood testicular neoplasm" "A neoplasm that arises from the testis during childhood." "" + "childhood ovarian yolk sac tumor" "A yolk sac tumor that arises from the ovary and occurs in children." "" + "pediatric ovarian germ cell tumor" "A germ cell tumor that arises from the ovary and occurs in children." "" + "ovarian yolk sac tumor" "A usually rapidly growing malignant germ cell tumor arising from the ovary. It usually occurs in children and adolescents. Signs and symptoms include abdominal pain and a large abdominal or pelvic mass. The serum alpha-fetoprotein is almost always elevated preoperatively. Morphologically, there is marked heterogeneity due to numerous patterns of differentiation coexisting in the same tumor. The most common pattern is reticular." "" + "leptomeningeal melanoma" "A melanoma that arises from leptomeningeal melanocytes." "" + "malignant leptomeningeal tumor" "A primary or metastatic malignant tumor involving the leptomeninges." "" + "acute stress disorder" "An anxiety disorder precipitated by an experience of intense fear or horror while exposed to a traumatic (especially life-threatening) event. The disorder is characterized by dissociative symptoms; vivid recollections of the traumatic event; avoidance of stimuli associated with the traumatic event; and a constant state of hyperarousal for no more than one month." "" + "pediatric leptomeningeal melanoma" "A melanoma that arises from leptomeningeal melanocytes and occurs in childhood." "" + "childhood malignant melanoma" "A melanoma that occurs during childhood." "" + "adult leptomeningeal melanoma" "A melanoma that arises from leptomeningeal melanocytes and occurs in adulthood." "" + "signet ring cell variant cervical mucinous adenocarcinoma" "A rare cervical mucinous adenocarcinoma characterized by the presence of signet ring cells." "" + "herpetic gastritis" "Gastritis resulting from herpes virus." "" + "Herpesviridae infectious disease" "Virus diseases caused by the herpesviridae." "" + "thoracic spinal canal and spinal cord meningioma" "A meningioma that arises from the meninges of the thoracic region of the spinal cord." "" + "jugular foramen meningioma" "A meningioma that affects the jugular foramen." "" + "intracerebral cystic meningioma" "A cystic meningioma that grows within the cerebral hemispheres." "" + "cerebral convexity meningioma" "A meningioma that affects the cerebral sulcus." "" + "lateral ventricle meningioma" "A meningioma that affects the lateral ventricle of the brain." "" + "renal pelvis inverted papilloma" "A neoplasm of the renal pelvis in which the epithelial cells grow downward into the underlying supportive tissue." "" + "renal pelvis urothelial papilloma" "A benign neoplasm of the renal pelvis that involves the transitional epithelium projecting above the surrounding epithelial surface and consisting of villous or arborescent outgrowths of fibrovascular stroma." "" + "inverted urothelial papilloma" "An endophytic lesion in the urinary tract which shares several morphologic features with urothelial papilloma. This lesion may recur after complete excision. Transitional cell carcinomas may arise within inverted urothelial papillomas." "" + "benign neoplasm of renal pelvis" "A benign neoplasm that involves the renal pelvis." "" + "immune deficiency disease" "" + "obsolete gliomatosis cerebri" "" "true" + "bronchitis" "An acute or chronic inflammatory process affecting the bronchi." "" + "tracheobronchitis" "Inflammation of the tracheobronchial tree." "" + "uterine corpus epithelioid leiomyosarcoma" "A morphologic variant of leiomyosarcoma arising from the uterine corpus. It is characterized by the presence of epithelioid round cells with eosinophilic to clear cytoplasm." "" + "leiomyosarcoma of the corpus uteri" "An aggressive malignant smooth muscle neoplasm, arising from the uterine corpus. It is characterized by a proliferation of neoplastic spindle cells." "" + "lymphopenia" "Reduction in the number of lymphocytes." "" + "nasal cavity carcinoma in situ" "A in situ carcinoma that involves the nasal cavity." "" + "childhood testicular choriocarcinoma" "A choriocarcinoma that arises from the testis during childhood." "" + "childhood testicular mixed germ cell cancer" "A malignant mixed germ cell neoplasm that arises from the testis during childhood." "" + "childhood embryonal testis carcinoma" "An embryonal carcinoma that arises from the testis during childhood." "" + "testicular embryonal carcinoma" "A malignant germ cell neoplasm arising from the testis. It is composed of primitive epithelial cells arranged in solid, papillary, and glandular configurations. Most patients present with a testicular mass, which may be associated with pain. More than half of the patients have metastatic disease at diagnosis. The form of treatment following radical orchiectomy is stage dependent." "" + "hereditary papillary renal cell carcinoma" "A familial carcinoma inherited in an autosomal dominant trait. It is characterized by the development of multiple, bilateral papillary renal cell carcinomas. The carcinomas range from microscopic lesions to clinically symptomatic tumors. It is associated with activating mutations of the MET oncogene." "" + "papillary renal cell carcinoma" "A rare subtype of renal cell carcinoma, arising from the renal tubular epithelium and showing a papillary growth pattern, which typically manifests with hematuria, flank pain, palpable abdominal mass or nonspecific symptoms, such as fatigue, weight loss or fever. Symptoms related to metastatic spread, such as bone pain or persistent cough, are frequently associated since early diagnosis is not common. It is typically multifocal, bilateral, and in most cases sporadic, although different hereditary syndromes, such as Hereditary leiomyoma renal cell carcinoma, Birt-Hogg-DubC) syndrome and Tuberous sclerosis, may predispose to the development of papillary renal cell carcinoma." "" + "prostatic urethra urothelial carcinoma" "An urothelial carcinoma that arises from the urothelial lining of the prostatic urethra." "" + "prostatic urethral cancer" "A male urethral cancer that involves the prostatic urethra." "" + "male urethral cancer" "A cancer involving a male urethra." "" + "ovarian endometrial cancer" "A benign, borderline, or malignant epithelial tumor of the ovary characterized by the presence of glands and/or cysts lined by neoplastic cells that resemble endometrial cells." "" + "obsolete uterine carcinosarcoma" "" "true" + "obsolete mediastinal neurilemmoma" "" "true" + "ovarian small cell carcinoma" "A carcinoma that arises from the ovary and is characterized by the presence of small malignant cells. It includes small cell carcinoma, hypercalcemic type and small cell carcinoma, pulmonary type." "" + "rectum Kaposi sarcoma" "A Kaposi sarcoma arising from the rectum." "" + "Kaposi's sarcoma" "A malignant neoplasm characterized by a vascular proliferation which usually contains blunt endothelial cells. Erythrocyte extravasation and hemosiderin deposition are frequently present. The most frequent site of involvement is the skin; however it may also occur internally. It generally develops in people with compromised immune systems including those with acquired immune deficiency syndrome (AIDS)." "" + "colorectal Kaposi sarcoma" "A Kaposi sarcoma that arises from the colon or rectum." "" + "obsolete inflammatory MFH" "" "true" + "obsolete epithelioid sarcoma" "" "true" + "conventional malignant hemangiopericytoma" "A malignant hemangiopericytoma characterized by the presence of necrotic changes and in some cases high mitotic activity." "" + "hemangiopericytoma, malignant" "An uncommon malignant neoplasm arising from pericytes. Distinction between benign and malignant hemangiopericytoma may be difficult or even impossible on morphologic grounds alone." "" + "corneal intraepithelial neoplasm" "A squamous cell intraepithelial neoplasia that involves the cornea." "" + "cornea neoplasm" "A neoplasm (disease) that involves the cornea." "" + "aortic valve disorder" "A disease involving the aortic valve." "" + "cardiac ventricle disorder" "A disease or disorder that involves the cardiac ventricle." "" + "malignant pericardial mesothelioma" "A rare neoplasm of mesothelial origin that arises from the pericardium." "" + "thyroid hyalinizing trabecular adenoma" "A rare, circumscribed or encapsulated tumor arising from the follicular cells of the thyroid gland. It is characterized by a trabecular growth pattern and hyalinized stroma formation. The vast majority of cases have a benign clinical course." "" + "follicular thyroid adenoma" "A benign, encapsulated tumor, arising from the follicular cells of the thyroid gland. It may be associated with thyroid hormone secretion but it does not have malignant characteristics." "" + "obsolete follicular thyroid adenoma" "" "true" + "mediastinal extraskeletal osteosarcoma" "An osteosarcoma arising from the mediastinum." "" + "malignant mediastinum hemangiopericytoma" "A malignant hemangiopericytoma arising in the mediastinum." "" + "bladder diffuse clear cell adenocarcinoma" "A rare morphologic variant of bladder adenocarcinoma characterized by the presence of malignant glandular epithelial cells and clear cells forming a diffuse pattern." "" + "ovarian seromucinous tumor" "A benign, borderline, or malignant mixed epithelial tumor of the ovary. It is characterized by the presence of more than one epithelial cell type, most often serous and endocervical-type mucinous." "" + "ovarian papillary tumor" "A benign, borderline, or malignant epithelial tumor that arises from the ovary and is characterized by the presence of papillary proliferations. Representative examples include surface papilloma, borderline serous surface papillary tumor, and serous surface papillary adenocarcinoma." "" + "obsolete gastric diffuse adenocarcinoma" "" "true" + "obsolete Cronkhite-Canada syndrome" "" "true" + "obsolete peritoneal serous papillary adenocarcinoma" "" "true" + "childhood mature teratoma of the ovary" "A mature teratoma that arises from the ovary and occurs in children." "" + "childhood teratoma of the ovary" "A mature or immature teratoma that arises from the ovary and occurs in children." "" + "ovarian biphasic or triphasic teratoma" "A germ cell tumor that arises from the ovary and is composed of tissues that originate from two or three of the following germ layers, endoderm, ectoderm, or mesoderm." "" + "non-invasive bladder papillary urothelial neoplasm" "A papillary neoplasm of the urinary bladder in which the transitional cells form papillae. The papillary structures exhibit minimal architectural distortion and minimal atypia. Mitoses are infrequent. Patients are at an increased risk of developing new papillary lesions. Occasionally, the new lesions are urothelial carcinomas." "" + "obsolete transient hypogammaglobulinemia of infancy" "" "true" + "hereditary kidney oncocytoma" "An inherited condition characterized by the development of kidney oncocytomas which are often bilateral and multifocal. This condition may be connected to Birt-Hogg-Dube syndrome." "" + "kidney oncocytoma" "A benign tumor of the kidney, characterized by the presence of large cells with abundant eosinophilic granular cytoplasm. The majority of these tumors are discovered incidentally, during work-up of other conditions." "" + "mediastinum seminoma" "An extragonadal malignant germ cell tumor that arises from the mediastinum. It is characterized by the presence of uniform cells with clear or eosinophilic cytoplasm, round nucleus with one or more nucleoli, and distinct cellular borders. It usually arises from the anterior mediastinum. It may present with respiratory distress, chest pain, or superior vena cava syndrome or it may be asymptomatic, with the tumor detected on routine chest x-ray. The prognosis of mediastinal pure seminomas is favorable compared to the mediastinal non-seminomatous malignant germ cell tumors." "" + "mediastinal malignant germ cell tumor" "An extragonadal malignant germ cell tumor that arises from the mediastinum. This category includes seminoma, embryonal carcinoma, yolk sac tumor, choriocarcinoma, mixed germ cell tumors, and immature malignant teratoma." "" + "transient hypogammaglobulinemia" "A broad classification for humoral immunodeficiencies. These disorders may be caused by inadequate activation of progenitor B cells, defective class-switching or the effects of medications. Despite the potential for increased susceptibility to infection, these disorders are self-limited with eventual normalization of serum antibody levels." "" + "syndromic agammaglobulinemia" "A agammaglobulinemia that is part of a larger syndrome." "" + "growth hormone-producing pituitary gland carcinoma" "A rare, hormonally functioning or non-functioning pituitary gland adenocarcinoma that produces growth hormone. It may be associated with acromegaly." "" + "growth hormone-producing pituitary gland neoplasm" "An adenoma or carcinoma of the anterior lobe of the pituitary gland that produces growth hormone." "" + "chromophil adenoma of the kidney" "A controversial term, used for renal papillary lesions which measure 1cm or less in diameter and contain small, regular nuclei." "" + "type 1 papillary adenoma of the kidney" "" + "type 2 papillary adenoma of the kidney" "" + "obsolete severe combined immunodeficiency" "" "true" + "gastric cardia carcinoma" "A carcinoma that arises from epithelial cells of the cardia of stomach." "" + "gastric carcinoma" "A carcinoma that arises from epithelial cells of the stomach." "" + "gastric cardia adenocarcinoma" "A carcinoma that arises from glandular epithelial cells of the cardia of stomach." "" + "malignant thyroid stimulating hormone producing neoplasm of pituitary gland" "A rare, hormonally functioning or non-functioning pituitary gland adenocarcinoma that produces thyrotropin." "" + "TSH producing pituitary tumor" "An adenoma or carcinoma of the anterior lobe of the pituitary gland that produces thyrotropin." "" + "obsolete malignant ACTH producing neoplasm of pituitary gland" "" "true" + "ovarian mucinous adenocarcinofibroma" "A malignant neoplasm of the ovary with an invasive epithelial component and a fibrotic stroma. The epithelial component is characterized by the presence of malignant epithelial cells with intracytoplasmic mucin. Cystic spaces are also present which contain mucoid material." "" + "mucinous ovarian cancer" "An invasive malignant neoplasm that arises from the ovary and is characterized by the presence of malignant epithelial cells that contain intracytoplasmic mucin and may resemble the epithelial cells of the endocervix or gastrointestinal tract. It includes mucinous adenocarcinoma and mucinous adenocarcinofibroma." "" + "epicardium lipoma" "A rare benign adipose tissue neoplasm of the epicardium of the heart." "" + "heart lipoma" "A rare benign adipose tissue neoplasm of the heart usually originating in the epicardial or pericardial fatty tissue." "" + "benign neoplasm of heart" "A benign neoplasm that involves the heart." "" + "childhood cerebellar astrocytic neoplasm" "Benign and malignant astrocytomas that arise from astrocytes in the cerebellum. More than 80% of childhood cerebellar astrocytomas are pilocytic astrocytomas which have a favorable prognosis. The remainder are composed of diffuse or fibrillary subtypes with malignant astrocytomas occurring only rarely in the cerebellum during childhood." "" + "cerebral hemisphere lipoma" "A rare benign adipose tissue neoplasm within the cerebral hemisphere often associated with partial or complete agenesis of the corpus callosum." "" + "benign neoplasm of cerebrum" "A benign neoplasm that involves the telencephalon." "" + "corpus callosum lipoma" "A rare benign adipose tissue neoplasm of the corpus callosum." "" + "viral esophagitis" "Viral infection of the esophagus. It often occurs in immunocompromised patients and it is caused by cytomegalovirus or herpes simplex virus. Symptoms include pain on swallowing, fever, and retrosternal burning." "" + "non-hereditary degenerative ataxia" "" + "ectopic thymus" "A condition in which the thymus gland is abnomally located; this can be secondary to failure of descent during fetal development, or failure of involution." "" + "clivus chordoma" "A slow-growing malignant bone tumor arising from the remnants of the notochord and occurring in the clivus. It is characterized by a lobulated growth pattern, myxoid stroma formation, and the presence of physaliphorous cells." "" + "clivus chondroid chordoma" "A slow-growing malignant bone tumor arising from the remnants of the notochord and occurring in the clivus. It is characterized by a lobulated growth pattern, myxoid stroma formation, the presence of physaliphorous cells and cartilage." "" + "chondroid chordoma" "A slow-growing malignant bone tumor arising from the remnants of the notochord and occurring in the base of the skull. The tumor is characterized by a lobulated growth pattern, myxoid stroma formation, and the presence of physaliphorous cells and cartilage." "" + "ovarian fetiform teratoma" "A rare type of teratoma that arises from the ovary and resembles a malformed fetus." "" + "ovarian solid teratoma" "A mature teratoma that arises from the ovary and presents as a large solid mass. It contains multiple cysts that vary in size. Small foci of hemorrhage are also present." "" + "obsolete tibial adamantinoma" "" "true" + "obsolete immature teratoma of ovary" "" "true" + "adult malignant hemangiopericytoma" "A malignant hemangiopericytoma occurring in the adult population." "" + "adult intracranial malignant hemangiopericytoma" "A solitary fibrous tumor/hemangiopericytoma, grade 3 that arises from the brain and occurs in the adult population." "" + "anterior optic tract meningioma" "A meningioma that affects the anterior visual pathway." "" + "optic tract meningioma" "A meningioma that affects the visual pathway." "" + "bilateral meningioma of optic nerve" "Meningiomas that affects both optic nerves." "" + "cerebellopontine angle meningioma" "A meningioma that affects the cerebellopontine angle." "" + "vulvar eccrine adenocarcinoma" "An eccrine adenocarcinoma that arises from the sweat glands in the vulva." "" + "melanotic psammomatous malignant peripheral nerve sheath tumor" "A malignant peripheral nerve sheath tumor characterized by the presence of malignant cells that contain melanin and formation of psammoma bodies." "" + "malignant melanocytic neoplasm of the peripheral nerve sheath" "A rare variant of malignant peripheral nerve sheath tumor. It is characterized by the presence of malignant cells that contain melanin." "" + "chronic lymphocytic leukemia/small lymphocytic lymphoma" "An indolent, mature B-cell neoplasm composed of small, round B-lymphocytes. When the bone marrow and peripheral blood are involved, the term chronic lymphocytic leukemia is used. The term small lymphocytic lymphoma is restricted to cases which do not show leukemic involvement of the bone marrow and peripheral blood." "" + "acral lentiginous melanoma" "A form of melanoma occurring most often on the plantar, palmar, subungual, and periungual skin. It presents as a pigmented macular lesion with irregular borders. Morphologically, it consists of atypical spindled and dendritic melanocytes. The epidermis is often hyperplastic and there is pagetoid infiltration of the epidermis by anaplastic cells." "" + "liver extraskeletal osteosarcoma" "An osteosarcoma arising from the liver." "" + "diffuse meningeal melanocytosis" "A diffuse or multifocal proliferation of uniform nevoid polygonal cells in the leptomeninges. Cells may spread into the Virchow-Robin spaces without frank invasion of the brain. Diffuse melanocytosis carries a poor prognosis even in the absence of histologic malignancy. (WHO)" "" + "anterior foramen magnum meningioma" "A meningioma that affects the anterior foramen magnum." "" + "childhood brain stem glioma" "An abnormal growth of the cells that comprise the tissues of the brainstem. While the tumor may be histologically benign, it can produce great morbidity due to its location. It presents most commonly in the first two decades of life." "" + "childhood brainstem astrocytoma" "An astrocytoma that arises from the brain stem and occurs during childhood." "" + "obsolete metanephric adenoma" "" "true" + "ovarian papillary cystadenoma" "A serous cystadenoma of the ovary characterized by the presence of small papillary projections in the inner surface of the cysts." "" + "ovarian surface papilloma" "A benign serous neoplasm characterized by the presence of papillary proliferations on the surface of the ovary." "" + "ovarian serous surface papillary adenocarcinoma" "A serous adenocarcinoma that arises from the ovary and is characterized by the presence of a papillary architectural pattern." "" + "childhood central nervous system mature teratoma" "A mature teratoma that arises from the central nervous system during childhood." "" + "eyelid carcinoma" "A carcinoma that arises from epithelial cells of the eyelid." "" + "obsolete cervical adenoid basal carcinoma" "" "true" + "choroid cancer" "A malignant neoplasm involving the optic choroid." "" + "ovarian endometrioid adenocarcinofibroma" "A malignant neoplasm of the ovary characterized by the presence of malignant glandular cells resembling endometrial cells in a fibrotic stroma." "" + "ceruminous carcinoma" "An infiltrating adenocarcinoma derived from ceruminous glands in the external auditory canal." "" + "vulvar apocrine adenocarcinoma" "An apocrine adenocarcinoma that arises from the sweat glands in the vulva." "" + "central nervous system fibrosarcoma" "A usually aggressive malignant neoplasm arising from the central nervous system. It is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation in a herringbone growth pattern." "" + "obsolete cerebellar liponeurocytoma" "" "true" + "lipoma of the rectum" "A benign adipose tissue neoplasm of the rectum." "" + "benign neoplasm of rectum" "A benign neoplasm that involves the rectum." "" + "mucinous cystadenofibroma" "A benign neoplasm characterized by the presence of cystic structures lined by mucinous columnar epithelial cells in a fibrotic stroma." "" + "ovarian mucinous adenofibroma" "A benign neoplasm of the ovary characterized by the presence of glands with mucinous columnar epithelial cells in a fibrotic stroma." "" + "childhood testicular mixed embryonal carcinoma and teratoma" "A malignant testicular mixed germ cell neoplasm that occurs during childhood. It is characterized by the presence of embryonal carcinoma and teratoma components." "" + "infiltrating bladder urothelial carcinoma, clear cell variant" "An invasive transitional cell carcinoma of the bladder characterized by the presence of clear cells." "" + "infiltrating bladder urothelial carcinoma" "An invasive transitional cell carcinoma that arises from the urinary bladder urothelium." "" + "bladder transitional cell carcinoma" "The most common morphologic subtype of urinary bladder carcinoma (over 90% of cases). It arises from the transitional epithelium. It most often affects males in their sixth and seventh decades of life. Hematuria is the most common symptom at presentation. Pathologic stage is the strongest predictor of survival." "" + "bladder signet ring cell adenocarcinoma" "A signet ring cell carcinoma that involves the urinary bladder." "" + "acinar lung adenocarcinoma" "A morphologic variant of lung adenocarcinoma characterized by the presence of acinar structures composed of columnar or cuboidal cells. (NCI05)" "" + "rete testis adenoma" "A benign epithelial neoplasm arising from the rete testis." "" + "mediastinal melanocytic neurilemmoma" "A melanotic schwannoma that affects the mediastinum." "" + "periosteal osteogenic sarcoma" "An intermediate grade malignant bone-forming mesenchymal neoplasm with chondroblastic differentiation. It arises from the surface of the bone and affects the diaphysis or diaphyseal- metaphyseal portion of the long bones. A painless mass or swelling is the most common clinical sign. It is associated with a better prognosis than conventional osteosarcoma." "" + "breast capillary hemangioma" "A capillary hemangioma arising from the breast." "" + "breast epithelioid hemangioma" "A hemangioma characterized by the presence of epithelioid endothelial cells, arising from the breast." "" + "pediatric myxoid chondrosarcoma" "A myxoid chondrosarcoma occurring in children." "" + "adult myxoid chondrosarcoma" "A myxoid chondrosarcoma occurring in adults." "" + "cerebellar hemangioblastoma" "A histologically benign tumor, usually cystic with a vascular mural nodule, that is most often found in the cerebellum though it has been reported at other sites within the neuraxis. It is associated with von Hippel-Lindau disease (VHL gene located on chr 3p25-26)." "" + "brain stem hemangioblastoma" "A hemangioblastoma that involves the brainstem." "" + "benign neoplasm of brain stem" "A benign neoplasm that involves the brainstem." "" + "benign vaginal mixed tumor" "A non-metastasizing, well circumscribed neoplasm that arises from the vagina and is characterized by the presence of a predominant benign mesenchymal component and benign glandular or squamous epithelial cells." "" + "lung occult squamous cell carcinoma" "A squamous cell lung carcinoma detectable by sputum cytology only. The primary tumor is undetectable radiographically or during bronchoscopy; therefore, it can not be assessed." "" + "squamous cell lung carcinoma" "A carcinoma arising from squamous bronchial epithelial cells. It may be keratinizing or non-keratinizing. Keratinizing squamous cell carcinoma is characterized by the presence of keratinization, pearl formation, and/or intercellular bridges. Non-keratinizing squamous cell carcinoma is characterized by the absence of keratinization, pearl formation, and intercellular bridges. Cigarette smoking and arsenic exposure are strongly associated with squamous cell lung carcinoma." "" + "ovarian yolk sac tumor, glandular pattern" "A yolk sac tumor that arises from the ovary and is characterized by the presence of extensive differentiation into endodermal type glandular structures." "" + "ovarian yolk sac tumor, hepatoid pattern" "A yolk sac tumor that arises from the ovary and is characterized by the presence of extensive differentiation into hepatic tissue." "" + "ovarian yolk sac tumor, polyvesicular vitelline pattern" "A yolk sac tumor that arises from the ovary and is characterized by the presence of multiple dilated spaces lined by cells that resemble mesothelial cells. The dilated spaces coexist with columnar epithelial tissues." "" + "clivus meningioma" "A meningioma that affects the clivus." "" + "Bartholin gland adenomyoma" "A rare, benign neoplasm that arises from the Bartholin gland and is characterized by the presence of a fibromuscular stroma and glands lined by mucin-secreting epithelial cells, arranged in a lobular architecture." "" + "mixed cell uveal melanoma" "A melanoma arising from the choroid, ciliary body, or the iris. It is characterized by the presence of a mixture of spindle A melanoma cells, spindle B melanoma cells, and epithelioid melanoma cells." "" + "ciliary body mixed cell melanoma" "A mixed cell uveal melanoma that involves the ciliary body." "" + "iris melanoma" "A uveal melanoma that arises from the iris. It is the most common primary malignant neoplasm of the iris. The majority arise in preexisting nevi." "" + "choroid mixed cell melanoma" "A mixed cell uveal melanoma that involves the optic choroid." "" + "obsolete inborn purine-pyrimidine metabolic disorder" "" "true" + "cortical thymoma" "A thymic epithelial neoplasm characterized by the presence of neoplastic large, polygonal epithelial cells with large vesicular nuclei and prominent nucleoli. The neoplastic cells are arranged around perivascular spaces and along septa. Immature T-lymphocytes are also present. It may be associated with myasthenia gravis, pure red cell aplasia, and hypogammaglobulinemia. It is a tumor of moderate malignancy. The majority of cases occur in the anterior mediastinum as Masaoka stage I, stage II, or stage III tumors. Metastatic, stage IV tumors occur less frequently." "" + "thymoma type B" "An epithelial neoplasm arising from the thymus. It may be associated with myasthenia gravis, pure red cell aplasia, and hypogammaglobulinemia. It includes thymoma type B1 which is a thymoma of low grade malignant potential, thymoma type B2 which is a thymoma of moderate malignancy, and thymoma type B3 which is also known as well differentiated thymic carcinoma." "" + "heart lymphoma" "An extranodal lymphoma that arises from the heart and/or the pericardium. The majority of the cases are diffuse large B-cell lymphomas. Patients may present with chest pain, heart failure, pericardial effusion, arrhythmia, or syncope." "" + "angiomatous meningioma" "A WHO grade I meningioma characterized by the presence of small and medium sized vessels that predominate over the meningioma cells." "" + "obsolete inherited metabolic disorder" "" "true" + "obsolete gastric small cell carcinoma" "" "true" + "posterior foramen magnum meningioma" "A meningioma that affects the posterior foramen magnum." "" + "ovarian clear cell malignant adenofibroma" "A carcinoma arising from the ovary. It is characterized by the presence of malignant epithelial cells with clear cytoplasm in a fibrotic stroma." "" + "ethmoid sinus Schneiderian papilloma" "A papilloma that arises from the ciliated respiratory mucosa that lines the ethmoid sinus. It is classified as inverted papilloma and oncocytic papilloma." "" + "benign neoplasm of ethmoidal sinus" "A benign neoplasm that involves the ethmoid sinus." "" + "benign neoplasm of adrenal gland" "A benign neoplasm that involves the adrenal gland." "" + "adrenal cortex neoplasm" "A benign or malignant (primary or metastatic) neoplasm affecting the adrenal cortex. (NCI05)" "" + "ethmoid sinus inverted papilloma" "A benign neoplasm that arises from the ciliated respiratory mucosa that lines the ethmoid sinus. It results from the invagination and proliferation of epithelial cells in the underlying stroma." "" + "neurilemmoma of the pleura" "A schwannoma that involves the pleura." "" + "posterior uveal melanoma" "" + "uterine corpus myxoid leiomyosarcoma" "A morphologic variant of leiomyosarcoma arising from the uterus corpus. It is characterized by the presence of cellular pleomorphism, malignant cells with large nuclei, and a myxoid stroma." "" + "vestibular micropapillomatosis" "A benign neoplastic process characterized by the presence of multiple vestibular papillomas in the vulva." "" + "non-invasive bladder urothelial carcinoma" "Stage 0 includes: 0a (Ta, N0, M0); 0is (Tis, N0, M0). Ta: Noninvasive papillary carcinoma. Tis: Carcinoma in situ: \"flat tumor\". N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)" "" + "childhood optic tract astrocytoma" "An astrocytoma that arises from the visual pathway and occurs during childhood." "" + "childhood cerebral astrocytoma" "An astrocytoma, without designation of benign or malignant, that is found in the supratentorial region. The infratentorial location is more common in children." "" + "childhood optic nerve glioma" "A glioma affecting the optic tract and occurring in childhood." "" + "chest wall bone cancer" "An uncommon malignant neoplasm that arises from the chest wall bones. Representative examples include chondrosarcoma, osteosarcoma, and Ewing sarcoma/peripheral primitive neuroectodermal tumor." "" + "malignant neoplasm of chest wall" "A cancer that involves the chest wall." "" + "breast apocrine carcinoma" "An adenocarcinoma of the breast characterized by the presence of two intermingled cellular components: cells with abundant granular, eosinophilic cytoplasm, and cells with abundant cytoplasm containing fine empty vacuoles." "" + "oncocytic breast carcinoma" "A rare breast adenocarcinoma characterized by the presence of neoplastic oncocytic cells. The oncocytic cells comprise more than 70 percent of the malignant cellular population." "" + "invasive tubular breast carcinoma" "An invasive adenocarcinoma of the breast with a favorable prognosis. It is composed of tubular structures lined by a single layer of epithelium." "" + "tubular adenocarcinoma" "An infiltrating adenocarcinoma in which the malignant cells form tubular structures. Representative examples include the tubular breast carcinoma and the gastric tubular adenocarcinoma." "" + "vertebral disorder" "A disease or disorder that involves the vertebra." "" + "bladder colonic type adenocarcinoma" "" + "Kummell disease" "A disease that presents as vertebral osteonecrosis typically affecting a thoracic vertebra with compression deformity, intravertebral vacuum cleft, and exaggerated kyphosis weeks to months after a minor traumatic injury." "" + "osteonecrosis" "A none disease characterized by death of bone tissue due to a lack of blood supply." "" + "classic variant of chromophobe renal cell carcinoma" "" + "chromophobe renal cell carcinoma" "Chromophobe renal cell carcinoma is a rare subtype of renal cell carcinoma, originating from the intercalating cells of the collecting ducts and macroscopically manifesting as a well-circumscribed, highly lobulated, solid tumor that is usually diagnosed at an early stage. It is frequently asymptomatic, or may present with nonspecific symptoms, such as weight loss, fever or fatigue. The classic presentation observed in renal tumors (hematuria, flank pain and palpable mass) is occasionally observed and usually indicates an advanced stage of the disease. It is most frequently sporadic however, several familial cases, associated with Birt-Hogg DubC) syndrome, have been described." "" + "eosinophilic variant of chromophobe renal cell carcinoma" "" + "central nervous system hibernoma" "A rare benign slow growing adipose tumor, characterized by the presence of polygonal brown fat cells with abundant cytoplasm, that arises within the nervous system." "" + "hibernoma" "A rare benign slow growing adipose tissue tumor, characterized by the presence of polygonal brown fat cells with multivacuolated and/or granular cytoplasm. The tumor is usually painless and is most often seen in young adults." "" + "endobronchial leiomyoma" "A benign smooth muscle neoplasm arising endobronchially. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern." "" + "bone epithelioid hemangioma" "A locally aggressive hemangioma that arises from the bone. It is characterized by the presence of epithelioid endothelial cells." "" + "vaginal villous adenoma" "An adenoma that arises from the vagina and is characterized by a villous architectural pattern." "" + "hyper-IgM syndrome" "A primary immune deficiency disorder characterized by defective CD40 signaling; via B cells affecting class switch recombination (CSR) and somatic hypermutation." "" + "cerebral hemangioma" "A hemangioma arising from the cerebral hemisphere." "" + "obsolete cervical adenoma malignum" "" "true" + "nipple carcinoma" "A carcinoma that arises from epithelial cells of the nipple" "" + "scrotal hemangioma" "A hemangioma arising from the skin of the scrotum." "" + "benign neoplasm of scrotum" "A benign neoplasm that involves the scrotum." "" + "adult central nervous system choriocarcinoma" "A choriocarcinoma of the central nervous system that occurs in an adult." "" + "pediatric CNS choriocarcinoma" "A choriocarcinoma that arises from the central nervous system and occurs during childhood." "" + "juvenile breast papillomatosis" "A benign, usually solitary, well circumscribed multicystic neoplasm that arises from the breast and typically affects young females. The cysts are lined by papillary proliferations that contain epithelial and myoepithelial layers. In a minority of cases, atypia may be present." "" + "Baastrup syndrome" "" + "adult pineoblastoma" "A pineoblastoma occurring in adults." "" + "pineoblastoma" "Pineoblastoma is a rare, malignant type of supratentorial primitive neuroectodermal tumor (sPNET), found mainly in children (less than 10% of cases are reported in adults), and located in the pineal region of the brain but that can metastasize along the neuroaxis. As it is the most aggressive of the pineal parenchymal tumors, it is usually associated with a poor prognosis." "" + "childhood central nervous system immature teratoma" "An immature teratoma that arises from the central nervous system and occurs during childhood." "" + "breast large cell neuroendocrine carcinoma" "A poorly differentiated neuroendocrine carcinoma that arises from the breast. It is characterized by the presence of large neuroendocrine cells and high mitotic activity." "" + "pulmonary large cell neuroendocrine carcinoma" "A large cell neuroendocrine carcinoma that involves the lung(s)." "" + "lung neuroendocrine neoplasm" "A low, intermediate, or high grade malignant neoplasm with neuroendocrine differentiation that arises from the lung. This category includes typical carcinoid tumor, atypical carcinoid tumor, small cell carcinoma, large cell neuroendocrine carcinoma, and combined carcinoma." "" + "obsolete cervical large cell neuroendocrine carcinoma" "" "true" + "Froelich syndrome" "Froelich syndrome is characterized by obesity and hypogonadism due to a hypothalamic-pituitary disorder. The hypothalamus is a part of the brain where certain functions such as sleep cycles and body temperature are regulated. The pituitary is a gland that makes hormones that affect growth and the functions of other glands in the body. Froehlich syndrome is acquired(i.e., not thought to be inherited or genetic). This syndrome appears to affect males more commonly. The term 'Froelich syndrome' is rarely used today." "" + "diffuse infiltrative lymphocytosis syndrome" "This is usually an oligoclonal CD8+ lymphocytic infiltration of various organs." "" + "myositis ossificans" "A disorder characterized by non-neoplastic bone formation in soft tissues. It usually follows blunt trauma and bleeding in the deep soft tissues." "" + "Capgras syndrome" "A rare neuropsychiatric disorder whose primary feature is the delusion that relatives or close acquaintances are not the persons that they are known to be. Visual recognition appears intact but familiar persons are thought be imposters, that is, they appear similar or identical to known individuals but are not. Most cases are seen in the context of a psychotic state. However, if manifested post-traumatically, the cause is most likely due to neurologic impairment. This disorder should be contrasted with prosopagnosia, in which an individual may not recognize a familiar person at all." "" + "delusional disorder" "A disorder characterized by the presence of one or more nonbizarre delusions that persist for at least 1 month; the delusion(s) are not due to schizophrenia or a mood disorder, and do not impair psychosocial functioning apart from the ramifications of the delusion(s)." "" + "testicular monophasic choriocarcinoma" "A choriocarcinoma that arises from the testis and is characterized by the predominance of cytotrophoblastic and intermediate trophoblastic cells. Syncytiotrophoblastic cells are absent or not prominent." "" + "synchronous multifocal osteogenic sarcoma" "A bone osteosarcoma affecting multiple skeletal sites, with multifocal lesions discovered within 6 months of the appearance of the initial tumor. It has a poor prognosis." "" + "asynchronous multifocal osteogenic sarcoma" "A bone osteosarcoma affecting multiple skeletal sites, with multifocal lesions discovered between 6 and 24 months after the appearance of the initial tumor. Patients with asynchronous tumors have a better prognosis than those with synchronous osteosarcomas." "" + "amphetamine abuse" "Disorders related or resulting from use of amphetamines." "" + "gastric fundus carcinoma" "A carcinoma that arises from epithelial cells of the fundus of stomach." "" + "gastric pylorus carcinoma" "A carcinoma that arises from the pylorus." "" + "gastric body carcinoma" "A carcinoma that arises from epithelial cells of the body of stomach." "" + "tubular variant testicular seminoma" "A morphologic variant of testicular seminoma characterized by the presence of seminoma cells arranged in tubular patterns and few lymphocytes." "" + "obsolete malignant triton tumor" "" "true" + "Littre gland carcinoma" "A carcinoma involving a male urethral gland." "" + "malignant type AB thymoma" "A type AB thymoma which is characterized by an aggressive clinical course (capsular invasion, infiltration of the surrounding tissues) and can metastasize." "" + "thymoma type AB" "A thymic epithelial neoplasm characterized by the presence of a lymphocyte-poor component similar to that seen in type A thymoma and a lymphocyte-rich component which contains neoplastic small polygonal epithelial cells. It may be associated with myasthenia gravis and pure red cell aplasia. The majority of cases occur in the anterior mediastinum as Masaoka stage I tumors. A minority of the cases occur as stage II or stage III tumors. The overall survival is reported to be 80-100% at 5 and 10 years." "" + "obsolete fibrillary astrocytoma" "" "true" + "colon small cell neuroendocrine carcinoma" "An aggressive, high-grade, and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the colon. It is characterized by the presence of malignant small cells." "" + "intrahepatic bile duct cystadenoma" "A mucinous cystic neoplasm that arises from the intrahepatic bile ducts." "" + "schwannoma of jugular foramen" "A rare intracranial schwannoma that affects the jugular foramen." "" + "obsolete cervix small cell carcinoma" "" "true" + "bilateral breast carcinoma" "Carcinoma that affects both breasts in a simultaneous or non-simultaneous manner." "" + "synchronous bilateral breast carcinoma" "Carcinoma that is detected in one breast within two months from the diagnosis of carcinoma in the other breast." "" + "internal auditory canal lipoma" "A rare benign adipose tissue neoplasm of the internal auditory canal, often presenting as an acoustic tumor. It may be intermixed with the vestibulocochlear nerve and may adhere to adjacent structures." "" + "" "true" + "lung lymphoma" "A rare non-Hodgkin or Hodgkin lymphoma that arises in and is confined to the lung at the time of diagnosis." "" + "sternum lymphoma" "A rare lymphoma that arises from the bone or soft tissue of the sternum." "" + "polyembryoma of the ovary" "A rare, malignant germ cell tumor arising from the ovary. It is characterized by the presence of embryoid bodies which resemble early embryos." "" + "polyembryoma" "Polyembryoma is a type oftumor that develops from the cells of the gonads (testes in men or ovaries in women). Such tumors are called germ cell tumors. Polyembryomas have a distinctivelook because they are composed of many parts that are shaped like embryos, one of the earliest stages of a developing human during pregnancy. Symptoms of a polyembryoma may include an unusual bump or mass in the abdomen which can cause pain in some individuals; puberty at an unusually young age (known as precocious puberty); or irregularities in a female's menstruation. Treatment begins with surgery and may be followed by chemotherapy and/or radiation therapy. The cause of polyembryoma is not yet known." "" + "malignant breast myoepithelioma" "An invasive malignant tumor that arises from the breast. It is characterized by the presence of spindle-shaped myoepithelial cells. Mitoses are present. Rarely, local recurrences and distant metastases have been reported." "" + "villoglandular endometrial endometrioid adenocarcinoma" "A primary endometrioid adenocarcinoma of the endometrium characterized by the presence of numerous finger-like villi lined by neoplastic columnar cells." "" + "endometrial endometrioid adenocarcinoma" "A primary endometrial adenocarcinoma composed of neoplastic cells that form complex glandular patterns associated with budding and branching of the neoplastic glands. The neoplastic glands resemble those of the normal endometrium and may or may not be associated with sheet-like proliferation of malignant cells. Endometrioid adenocarcinoma is the most commonly seen morphologic variant of endometrial adenocarcinoma." "" + "childhood botryoid rhabdomyosarcoma" "A morphologic variant of embryonal rhabdomyosarcoma occurring in children. The tumor arises from organs with a mucosal epithelial surface. It is characterized by the formation of a cambium layer in the affected tissue and polypoid nodules within an abundant myxoid stroma." "" + "childhood vagina botryoid rhabdomyosarcoma" "A morphologic variant of embryonal rhabdomyosarcoma occurring in female children. The neoplasm arises from the vagina. It is characterized by the formation of a cambium layer in the affected tissue and polypoid nodules with an abundant myxoid stroma." "" + "botryoid-type embryonal rhabdomyosarcoma of the vagina" "A morphologic variant of embryonal rhabdomyosarcoma arising from the vagina. It is characterized by the formation of a cambium layer in the affected tissue and polypoid nodules within an abundant myxoid stroma." "" + "vaginal rhabdomyosarcoma" "A malignant mesenchymal neoplasm with skeletal muscle differentiation arising from the vagina." "" + "vulvar childhood botryoid-type embryonal rhabdomyosarcoma" "A morphologic variant of embryonal rhabdomyosarcoma occurring in female children. The neoplasm arises from the vulva. It is characterized by the formation of a cambium layer in the affected tissue and polypoid nodules with an abundant myxoid stroma." "" + "basal ganglia disorder" "A disease involving the basal ganglia." "" + "colon Kaposi sarcoma" "A Kaposi sarcoma arising from the colon." "" + "vaginal tubular adenoma" "An adenoma that arises from the vagina and is characterized by a tubular architectural pattern." "" + "tubular adenoma" "A usually polypoid neoplasm arising from the glandular epithelium. It is characterized by a tubular architectural pattern. The neoplastic glandular cells have dysplastic features. Representative examples include the tubular adenomas of the colon and rectum." "" + "juvenile pilocytic astrocytoma" "A pilocytic astrocytoma that occurs during adolescence." "" + "childhood pilocytic astrocytoma" "A pilocytic astrocytoma that occurs during childhood." "" + "compartment syndrome" "Elevated pressure in a confined space enclosed by fascia or eschar, which may lead to vascular compromise and subsequent ischemic injury to the tissue within the space." "" + "obsolete pancreatoblastoma" "" "true" + "obsolete pancreatic solid pseudopapillary carcinoma" "" "true" + "motor nerve neuritis" "Inflammation of the peripheral motor nerves." "" + "ovarian adenoma benign" "A benign adenoma of ovary" "" + "rete ovarii cystadenofibroma" "An exceptionally rare cystadenofibroma that arises from the rete ovarii." "" + "breast intraductal proliferative lesion" "A group of non-invasive epithelial proliferations that occur in the ductal system of the breast. The vast majority of cases arise in the terminal ductal lobular units. This category includes atypical ductal hyperplasia, usual ductal hyperplasia, flat epithelial atypia, and ductal carcinoma in situ. There is an increased risk for subsequent development of invasive breast carcinoma." "" + "flat ductal epithelial atypia" "A breast lesion characterized by the presence of dilated terminal ductal lobular units in which the epithelial lining has been replaced by a single layer of mildly atypical cells, or there is atypical, monotonous epithelial hyperplasia of three to five layers. This lesion relates to columnar cell change with atypia and columnar cell hyperplasia with atypia." "" + "kidney pelvis sarcomatoid transitional cell carcinoma" "An infiltrating transitional cell carcinoma that arises from the renal pelvis and exhibits sarcomatoid features." "" + "obsolete familial melanoma" "" "true" + "adult botryoid rhabdomyosarcoma" "A morphologic variant of embryonal rhabdomyosarcoma occurring in adults. The neoplasm arises from organs containing a mucosal epithelial surface. It is characterized by the formation of a cambium layer in the affected tissue and polypoid nodules with an abundant myxoid stroma." "" + "adult vagina botryoid embryonal rhabdomyosarcoma" "A morphologic variant of embryonal rhabdomyosarcoma arising from the vagina. It is characterized by the formation of a cambium layer in the affected tissue and polypoid nodules with an abundant myxoid stroma. It occurs in female adults." "" + "ethmoid sinus ectopic meningioma" "An extremely rare meningioma that arises as a primary ectopic tumor in the ethmoid sinus." "" + "pineal region teratoma" "A mature or immature teratoma that arises in the pineal region." "" + "pineal region mature teratoma" "" + "pineal region immature teratoma" "" + "immature teratoma" "A teratoma composed of immature, fetal-type tissues." "" + "obsolete liver carcinoma" "A carcinoma that involves the liver." "" "true" + "oxyphilic endometrial endometrioid adenocarcinoma" "A primary endometrioid adenocarcinoma of the endometrium characterized by the presence of eosinophilic malignant glandular epithelial cells." "" + "mediastinal gray zone lymphoma" "A mediastinal lymphoma with molecular, morphologic, immunophenotypic, and clinical features of both mediastinal (thymic) large B-cell lymphoma and classical Hodgkin lymphoma. The identification of this group of lymphomas, along with recent gene expression profiling results (PDL2 gene expression in both mediastinal (thymic) large B-cell lymphoma tissues and Hodgkin lymphoma cell lines), further supports the hypothesis that mediastinal (thymic) large B-cell lymphomas and classical Hodgkin lymphomas are related entities." "" + "parasagittal meningioma" "A meningioma that affects the superior sagittal sinus and invades the parasagittal angle." "" + "obsolete hepatoblastoma" "" "true" + "spinal cord neuroblastoma" "A neuroblastoma that affects the spinal cord." "" + "obsolete spinal cord embryonal tumor, not otherwise specified" "" "true" + "skin tag" "A small, benign growth that arises from the skin. It is characterized by the presence of fibrovascular tissue lined by epidermis. It may be sessile or pendulous and usually occurs in sites where there is friction." "" + "reactive cutaneous fibrous lesion" "A benign, epidermal skin lesion characterized by overexpression of collagen during wound healing." "" + "fibroepithelial polyp" "A polypoid lesion composed of fibrous tissue and epithelium. Representative examples include skin tag, anal fibroepithelial polyp, and gingival fibroepithelial polyp." "" + "obsolete embryonal cancer" "" "true" + "small intestinal fibrosarcoma" "A usually aggressive malignant neoplasm arising from the small intestine. It is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation in a herringbone growth pattern." "" + "obsolete ureter small cell carcinoma" "" "true" + "ureter transitional cell carcinoma" "A carcinoma that arises from the transitional epithelium of the ureter. It is associated with tobacco use and usually presents with gross or microscopic hematuria." "" + "renal pelvis/ureter urothelial carcinoma" "A transitional cell carcinoma that arises from the renal pelvis and ureter." "" + "ovary mixed epithelial carcinoma" "" + "ovarian seromucinous carcinoma" "A malignant mixed epithelial neoplasm that arises from the ovary and is composed predominantly of serous and endocervical-type mucinous epithelium." "" + "familial ovarian carcinoma" "Ovarian carcinoma that has developed in relatives of patients that have a history of ovarian carcinoma." "" + "eye lymphoma" "A lymphoma that involves the eye." "" + "glomangiomatosis" "A benign multifocal proliferation of glomus cells forming clusters around dilated vascular spaces." "" + "" "true" + "thymoma type B1" "A thymic epithelial neoplasm characterized by the presence of expanded areas which resemble the normal thymic cortex. The neoplastic epithelial cells are small and scant and there is a dense T-lymphocytic component present. Areas of medullary differentiation with or without Hassall's corpuscles are also present. It may be associated with myasthenia gravis, pure red cell aplasia, and hypogammaglobulinemia. It has a low grade malignant potential. The majority of cases occur in the anterior mediastinum as Masaoka stage I tumors. A minority of the cases occur as stage II tumors." "" + "dental enamel hypoplasia" "Deficiency in the enamel tissue that results in the formation of grooves, pits, or dents on the surface of the affected teeth." "" + "papillary extrahepatic bile duct adenocarcinoma" "" + "urinary bladder inverted papilloma" "A neoplasm of the bladder in which the epithelial cells grow downward into the underlying supportive tissue, which often causes hematuria." "" + "bladder urothelial papilloma" "A benign neoplasm of the bladder that involves the transitional epithelium projecting above the surrounding epithelial surface and consisting of villous or arborescent outgrowths of fibrovascular stroma." "" + "urethra inverted papilloma" "A neoplasm of the urethra in which the epithelial cells grow downward into the underlying supportive tissue." "" + "ureter inverted papilloma" "A neoplasm of the ureter in which the epithelial cells grow downward into the underlying supportive tissue, which often causes hematuria." "" + "ureter urothelial papilloma" "A benign epithelial neoplasm that produces visible warty projections from the epithelial surface of the ureter." "" + "pediatric intraocular retinoblastoma" "Retinoblastoma during childhood that has not spread beyond the eye." "" + "childhood brain meningioma" "A brain meningioma that occurs during childhood." "" + "disorder of facial skeleton" "A disease that involves the facial skeleton." "" + "immature gastric teratoma" "A malignant teratoma that arises from the stomach." "" + "combat disorder" "Neurotic reactions to unusual, severe, or overwhelming military stress." "" + "telangiectatic osteogenic sarcoma" "An osteosarcoma usually arising from the metaphysis of long bones. It is characterized by the presence of a cystic architecture with blood-filled spaces. The prognosis is similar to that of conventional osteosarcoma." "" + "aleukemic monocytic leukemia cutis" "" + "rectal cloacogenic carcinoma" "A carcinoma that arises from the transitional zone at the junction of the rectum and anus." "" + "squamous cell carcinoma of rectum" "A very rare rectal carcinoma characterized by the presence of a malignant squamous cell infiltrate." "" + "acute canaliculitis" "" + "acute inflammation of lacrimal passage" "" + "bladder papillary urothelial carcinoma" "An invasive or non-invasive papillary transitional cell carcinoma of the urinary bladder. It is classified as low - or high-grade. -- 2003" "" + "micropapillary variant infiltrating bladder urothelial carcinoma" "An infiltrating bladder transitional cell carcinoma exhibiting micropapillary growth pattern. -- 2003" "" + "pancreatic cholera" "A rare syndrome characterized by severe watery diarrhea, hypokalemia, and achlorhydria. It is caused by the oversecretion of vasoactive intestinal peptide from the pancreatic islet cells." "" + "dentin sensitivity" "Pain or discomfort caused by exposure of the dentin layer of tooth to thermal, tactile, or other stimuli." "" + "peripheral epithelioid sarcoma" "An epithelioid sarcoma involving the extremities. It usually presents as nodular masses in the dermis and subcutaneous tissues or in the tendons and fascia. It frequently recurs and metastasizes to other anatomic sites. The most common sites of metastasis are the lungs, lymph nodes, bones, and brain." "" + "epithelioid sarcoma" "An aggressive malignant neoplasm of uncertain differentiation, characterized by the presence of epithelioid cells forming nodular patterns. The nodules often undergo central necrosis, resulting in a pseudogranulomatous growth pattern. It usually occurs in young adults. The most common sites of involvement are the extremities (distal-type epithelioid sarcoma), and less frequently the pelvis, perineum, and genital organs (proximal-type epithelioid sarcoma)." "" + "obsolete mitochondrial myopathy" "" "true" + "intermediate cell type uveal melanoma" "Uveal melanoma characterized by the presence of intermediate cells which are similar to but smaller than epithelioid cells." "" + "intermediate cell type iris melanoma" "Iris melanoma characterized by the presence of intermediate cells which are similar to but smaller than epithelioid cells." "" + "intermediate cell type choroid melanoma" "Choroid melanoma characterized by the presence of intermediate cells which are similar to but smaller than epithelioid cells." "" + "intermediate cell type ciliary body melanoma" "Ciliary body melanoma characterized by the presence of intermediate cells which are similar to but smaller than epithelioid cells." "" + "gallbladder mucinous adenocarcinoma" "An adenocarcinoma that arises from the gallbladder. It is characterized by the presence of extracellular mucin that constitutes more than fifty-percent of the tumor." "" + "obsolete disease of anatomical entity" "" "true" + "mitochondrial disease" "" + "obsolete gemistocytic astrocytoma" "" "true" + "cerebral astrocytoma" "An astrocytoma that arises from the cerebral hemispheres." "" + "obsolete protoplasmic astrocytoma" "" "true" + "obsolete dentin dysplasia" "" "true" + "ovarian mucinous cystadenofibroma" "A benign neoplasm of the ovary characterized by the presence of cystic structures lined by mucinous columnar epithelial cells in a fibrotic stroma." "" + "tendon sheath lipoma" "A benign tumor, composed of mature adipocytes, that arises within the tendon sheath." "" + "lumbosacral lipoma" "A benign well-circumscribed tumor, composed of lobules of mature adipocytes, that arises within the lumbosacral tissue of the spine." "" + "mucinous intrahepatic cholangiocarcinoma" "An intrahepatic cholangiocarcinoma that produces abundant mucin." "" + "lung mucous gland adenoma" "A benign adenomatous neoplasm that arises from the mucous glands in the bronchus." "" + "glottis squamous cell carcinoma" "A squamous cell carcinoma of the larynx that arises from the glottic area. It may remain localized for a long period then in late disease stage, it may spread to the opposite true vocal cord, supraglottic and subglottic areas, and the soft tissues of the neck. Hoarseness is the presenting symptom." "" + "childhood immature teratoma of ovary" "An immature teratoma that arises from the ovary and occurs in children." "" + "Borst-Jadassohn intraepidermal carcinoma" "A rare cutaneous lesion presenting as a scaly verrucous plaque. Morphologically, the plaque contains nests of basaloid cells." "" + "obsolete uveal epithelioid cell melanoma" "" "true" + "choroid epithelioid cell melanoma" "A epithelioid cell melanoma that involves the optic choroid." "" + "epithelioid cell uveal melanoma" "A uveal melanoma characterized by the presence of malignant large epithelioid melanocytes." "" + "ciliary body epithelioid cell melanoma" "A epithelioid cell melanoma that involves the ciliary body." "" + "basaloid large cell lung carcinoma" "A morphologic variant of large cell lung carcinoma characterized by the presence of a solid nodular or anastomotic trabecular growth pattern, peripheral palisading, and comedo type necrosis." "" + "cervical basaloid carcinoma" "An aggressive variant of cervical squamous cell carcinoma characterized by the presence of nests of malignant basaloid squamous cells with scant amount of cytoplasm." "" + "basaloid carcinoma of the penis" "An aggressive, human papillomavirus-related squamous cell carcinoma that arises from the penis. It is characterized by the presence of nests of small malignant cells. The malignant cells tend to invade deeply into the adjacent tissues. Comedo-type necrosis is often present." "" + "human papillomavirus-related penile squamous cell carcinoma" "A squamous cell carcinoma that arises from the penis and is caused by human papillomavirus infection. Morphologic variants include basaloid carcinoma and warty carcinoma." "" + "vulvar basaloid squamous cell carcinoma" "A squamous cell carcinoma that arises from the vulva and is characterized by the presence of nests of malignant basaloid cells with a scant amount of cytoplasm." "" + "skin basaloid carcinoma" "A basaloid squamous cell carcinoma that involves the zone of skin." "" + "thymic basaloid carcinoma" "A rare primary thymic carcinoma, characterized by the presence of tumor cell lobules with peripheral palisading, and a basophilic staining pattern. More than half of reported cases were associated with the presence of a multilocular thymic cyst. Metastases to lung and liver have been reported in approximately 30% of cases." "" + "esophageal basaloid carcinoma" "A rare morphologic variant of esophageal squamous cell carcinoma. Histologically, it is composed of closely packed cells with hyperchromatic nuclei and scant basophilic cytoplasm. It has a similar prognosis to the conventional squamous cell carcinoma of the esophagus. (WHO)" "" + "multiple skull base meningioma" "Multiple meningiomas that affect the skull base." "" + "spinal cord dermoid cyst" "A dermoid cyst that involves the spinal cord." "" + "obsolete lipid-rich breast carcinoma" "" "true" + "malignant melanocytic peripheral nerve sheath tumor of mediastinum" "A rare variant of malignant peripheral nerve sheath tumor that arises from the mediastinum. It is characterized by the presence of malignant cells that contain melanin." "" + "adult cystic teratoma" "A cystic teratoma that occurs in an adult." "" + "lung mixed small cell and squamous cell carcinoma" "A lung carcinoma characterized by a combination of small cell carcinoma and squamous cell carcinoma." "" + "multicentric papillary thyroid carcinoma" "A papillary carcinoma arising from the thyroid gland from multiple foci." "" + "columnar cell variant thyroid gland papillary carcinoma" "A morphologic variant of papillary carcinoma of the thyroid gland characterized by the presence of pseudostratified malignant follicular cells." "" + "tall cell variant thyroid gland papillary carcinoma" "A morphologic variant of papillary carcinoma of the thyroid gland characterized by the presence of tall malignant follicular cells, arranged in papillary and trabecular patterns. Necrotic changes and high mitotic activity are present." "" + "splenic manifestation of hairy cell leukemia" "A hairy cell leukemia that involves the spleen." "" + "childhood epithelioid sarcoma" "An epithelioid sarcoma occurring in childhood." "" + "testicular yolk sac tumor, macrocystic pattern" "A yolk sac tumor that arises from the testis and is characterized by the presence of collections of thin-walled spaces." "" + "diaphragma sellae meningioma" "A meningioma that affects the diaphragma sellae." "" + "epiglottis neoplasm" "A benign or malignant neoplasm that affects the epiglottis." "" + "neoplasm of hypopharynx" "A neoplasm (disease) that involves the hypopharynx." "" + "refractory hairy cell leukemia" "Hairy cell leukemia that is resistant to treatment." "" + "refractory hematologic cancer" "A hematologic malignancy that is resistant to treatment." "" + "radiation cystitis" "Inflammation of the bladder due to irradiation." "" + "obsolete HCL-v" "" "true" + "urinary bladder small cell neuroendocrine carcinoma" "A highly aggressive carcinoma, histologically resembling small cell lung carcinoma. In most cases it is associated with carcinoma in situ." "" + "obsolete gallbladder small cell carcinoma" "" "true" + "esophageal small cell neuroendocrine carcinoma" "An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the esophagus. It is characterized by the presence of malignant small cells." "" + "carcinoma of esophagus" "Esophageal carcinoma (EC) is a tumor arising in the epithelial cells lining the esophagus and can be divided into two subtypes: esophageal squamous cell carcinoma (ESCC) and esophageal adenocarcinoma (EAC)." "" + "ampulla of vater small cell neuroendocrine carcinoma" "An aggressive neuroendocrine carcinoma arising from the ampulla of Vater and the periampullary region. Morphologically, it is characterized by the presence of small malignant cells, necrosis, and a high mitotic rate. Signs and symptoms include jaundice, abdominal pain, anorexia, nausea, vomiting, and weight loss." "" + "duodenal neuroendocrine neoplasm" "A neuroendocrine neoplasm that involves the duodenum." "" + "cystitis cystica" "A reactive inflammatory disorder affecting the bladder. It is characterized by the development of small cysts in the bladder wall. The cysts are lined by urothelial cells." "" + "obsolete endometrial small cell carcinoma" "" "true" + "Bartholin gland small cell carcinoma" "A rare neuroendocrine carcinoma that arises from the Bartholin gland and is characterized by the presence of malignant small cells and high mitotic activity." "" + "vulvar neuroendocrine carcinoma" "A neuroendocrine carcinoma that arises from the vulva. This category includes small cell and large cell neuroendocrine carcinoma. Most small cell neuroendocrine carcinomas of the vulva are Merkel cell carcinomas." "" + "obsolete prostate small cell carcinoma" "" "true" + "thymus small cell carcinoma" "An aggressive, small cell, poorly differentiated thymic neuroendocrine carcinoma, characterized by the presence of a high mitotic rate and numerous apoptotic bodies." "" + "obsolete laryngeal small cell carcinoma" "" "true" + "prostate stromal sarcoma" "A rare malignant neoplasm arising from specialized prostatic stroma. It is characterized by the presence of stromal overgrowth and hypercellularity, increased number of mitotic figures, and pleomorphism." "" + "stromal sarcoma" "A malignant neoplasm characterized by the presence of atypical mesenchymal-stromal cells. Representative examples include endometrial stromal sarcoma and prostate stromal sarcoma." "" + "lung occult adenocarcinoma" "A lung adenocarcinoma detectable by sputum cytology only. The primary tumor is undetectable radiographically or during bronchoscopy; therefore, it can not be assessed." "" + "lung occult large cell carcinoma" "A large cell lung carcinoma detectable by sputum cytology only. The primary tumor is undetectable radiographically or during bronchoscopy; therefore, it can not be assessed." "" + "cloacogenic carcinoma" "An anal carcinoma arising from the transitional zone of the anal canal." "" + "anus basaloid carcinoma" "An anal squamous cell carcinoma characterized by the presence of malignant cells with hyperchromatic nuclei and peripheral nuclear palisading." "" + "anal verrucous carcinoma" "A large, well differentiated squamous cell carcinoma with a cauliflower-like appearance, characterized by the presence of an exophytic and endophytic growth pattern. Morphologically, there is papillomatosis and acanthosis present, however cytologically the neoplastic squamous cells have a benign appearance. Dysplastic changes are minimal. It does not respond to conservative treatment and it is regarded by many authors as an intermediate lesion between condyloma acuminatum and squamous cell carcinoma." "" + "Buschke Lowenstein tumor" "A verrucous carcinoma of the skin or mucosa that occurs in the anogenital region." "" + "anal canal squamous cell carcinoma" "A squamous cell carcinoma arising from the mucosa of the anal canal." "" + "pituitary gland mixed eosinophil-basophil adenoma" "An epithelial neoplasm of the anterior pituitary gland in which the neoplastic cells stain positive with acidic and basic dyes." "" + "benign dermal neurilemmoma" "" + "subacute lymphocytic thyroiditis" "Thyroiditis associated with painless enlargement of the thyroid gland. It occurs more frequently in females and is characterized by alterations between hyperthyroidism and hypothyroidism and the eventual return to normal thyroid gland function." "" + "ovarian endometrioid cystadenoma" "A benign neoplasm of the ovary characterized by the presence of cystic structures lined by endometrial-type well-differentiated cells." "" + "" "true" + "hereditary clear cell renal cell carcinoma" "A manifestation of von Hippel-Lindau disease or other familial renal cell cancer syndromes that present as a malignant epithelial neoplasm of the kidney. It is characterized by the presence of lipid-containing clear cells within a vascular network. The tumor usually is bilateral and polycentric, and metastasizes to unusual sites. Late metastasis is common." "" + "obsolete maxillary sinus adenoid cystic carcinoma" "" "true" + "intermediate malignant teratoma" "An immature teratoma characterized by the presence of an intermediate amount of undifferentiated tissues." "" + "melanomatosis" "" + "lung combined large cell neuroendocrine carcinoma" "A subtype of large cell neuroendocrine lung carcinoma characterized by the presence of large neuroendocrine cells in combination with adenocarcinoma, squamous cell carcinoma, giant cell carcinoma and/ or spindle cell carcinoma." "" + "psammomatous meningioma" "A WHO grade I meningioma characterized by the presence of psammoma bodies that predominate over the meningeal cells." "" + "fibrous meningioma" "A WHO grade I meningioma characterized by the presence of spindle cells that form bundles in a collagen matrix." "" + "meningothelial meningioma" "A WHO grade I meningioma characterized by the presence of tumor cells that form lobules. The tumor cells are generally uniform. Whorls and psammoma bodies are usually not present." "" + "transitional meningioma" "A WHO grade I meningioma characterized by the coexistence of meningothelial cells and fibrous architectural patterns." "" + "noninvasive malignant thymoma" "A morphologically malignant thymoma that is entirely confined within the capsule." "" + "gallbladder papillary neoplasm with an associated invasive carcinoma" "An intraluminal papillary neoplasm, usually with high grade intraepithelial neoplasia, that arises from the gallbladder. It is associated with the presence of an invasive carcinoma. The carcinomatous component is usually an adenocarcinoma." "" + "gallbladder pleomorphic giant cell adenocarcinoma" "" + "breast giant fibroadenoma" "A breast fibroadenoma characterized by a very large size. This term has also been used as a synonym for juvenile fibroadenoma by some authors. The latter is characterized by epithelial hyperplasia and an increased stromal cellularity." "" + "spinal meninges cancer" "A malignant neoplasm involving the meninx of spinal cord." "" + "chronic lymphocytic leukemia/small lymphocytic lymphoma with immunoglobulin heavy chain variable-region gene somatic hypermutation" "A recently recognized variant of chronic lymphocytic leukemia/small lymphocytic lymphoma (CLL/SLL) expressing somatic hypermutations of the Immunoglobulin heavy chain (IGH) genes. The recognition of this variant alters the belief that CLL/SLL is always derived from a naive, pregerminal center B-cell. The presence of somatic hypermutations of IGH genes occurs in approximately 50% of CLL/SLL cases and implies a postgerminal center, memory origin. Patients with this variant of CLL/SLL have a favorable prognosis, with a reported median survival of more than 24 years." "" + "childhood central nervous system embryonal carcinoma" "An embryonal carcinoma that arises from the central nervous system and occurs during childhood." "" + "embryonal carcinoma of the central nervous system" "A embryonal carcinoma that involves the central nervous system." "" + "obsolete central nervous system embryonal carcinoma" "" "true" + "adult central nervous system embryonal carcinoma" "A embryonal carcinoma of the central nervous system that occurs in an adult." "" + "pancreatic mucinous cystadenocarcinoma" "A mucinous cystadenocarcinoma that involves the pancreas." "" + "obsolete pancreatic mucinous cystadenoma" "" "true" + "pancreatic mucinous-cystic neoplasm with an associated invasive carcinoma" "A cystic epithelial neoplasm characterized by the presence of columnar mucin-producing epithelial cells, ovarian-type stroma formation, and a focal or extensive invasive carcinomatous component." "" + "pancreatic non-invasive mucinous cystadenocarcinoma" "A non-invasive malignant cystic epithelial neoplasm arising from the exocrine pancreas. It occurs almost exclusively in women. Small tumors are usually found incidentally. Larger tumors usually produce symptoms related to compression of the adjacent structures. It is characterized by the presence of columnar, mucin-producing epithelial cells which often form papillary projections with irregular branching and budding. There is cellular stratification, severe dysplasia, and high mitotic activity present. Complete surgical removal is usually associated with an excellent prognosis." "" + "female stress incontinence" "The involuntary loss of urine in females secondary to insufficient strength of the pelvic floor muscles; this can result from physical changes following pregnancy and childbirth, or as a response to a decrease in estrogen during menopause." "" + "uterine corpus apoplectic leiomyoma" "A morphologic variant of uterine corpus leiomyoma characterized by zones of hemorrhagic infarction surrounded by hypercellular areas. It usually develops in women of childbearing years, particularly those that are pregnant, post-partum, or taking oral contraceptives." "" + "uterine corpus cellular leiomyoma" "A morphologic variant of leiomyoma arising from the uterine corpus. It is characterized by a dense cellular infiltrate composed of spindle or round cells with scant cytoplasm and a less obvious interlacing fascicle pattern." "" + "bladder urachal urothelial carcinoma" "A transitional cell carcinoma of the urinary bladder that arises from the urachal epithelium." "" + "lymphoepithelioma-like acinar prostate adenocarcinoma" "A variant of prostate carcinoma characterized by the presence of malignant cells forming syncytial patterns and dense lymphocytic infiltrates." "" + "selective IgD deficiency disease" "A rare dysgammaglobulinemia characterized by low or undetectable serum levels of immunoglobulin class D (IgD). It is an uncommon primary antibody deficiency. It is most likely an inherited immunodeficiency. It may be caused by decreased or inefficient production of IgD from progenitor B cells without any corresponding decreases in the other isotypes. Most affected persons are asymptomatic and do not appear to be at increased risk for infection." "" + "hereditary fallopian tube carcinoma" "Fallopian tube carcinoma that has developed in relatives of patients that have a history of fallopian tube carcinoma." "" + "obsolete lung clear cell carcinoma" "" "true" + "cribriform variant testicular seminoma" "A morphologic variant of testicular seminoma characterized by the presence of seminoma cells arranged in cribriform patterns and few lymphocytes." "" + "premenstrual tension" "A combination of distressing physical, psychologic, or behavioral changes that occur during the luteal phase of the menstrual cycle. Symptoms of pms are diverse (such as pain, water-retention, anxiety, cravings, and depression) and they diminish markedly 2 or 3 days after the initiation of menses." "" + "nodular episcleritis" "" + "obsolete congenital epulis" "" "true" + "uterine corpus adenocarcinofibroma" "A adenocarcinofibroma that involves the body of uterus." "" + "adenocarcinoma of skene gland origin" "A rare adenocarcinoma arising from Skene gland. It presents as a periurethral or anterior vaginal submucosal mass. It is characterized by morphological features similar to prostate adenocarcinoma." "" + "secretory uterine corpus endometrioid adenocarcinoma" "An endometrioid adenocarcinoma arising from the endometrium. Morphologically it is characterized by the presence of malignant glandular cells containing glycogen vacuoles which are usually subnuclear and reminiscent of early secretory endometrium." "" + "mucin-rich endometrial endometrioid adenocarcinoma" "" + "childhood extraosseous osteosarcoma" "An osteosarcoma arising from the soft tissue, and occurring during childhood." "" + "testicular yolk sac tumor, endodermal sinus pattern" "A yolk sac tumor that arises from the testis and is characterized by the presence of connective tissue stalks that contain a blood vessel and are lined by cells with clear cytoplasm and prominent nucleoli." "" + "obsolete astroblastoma" "" "true" + "urinary system neoplasm" "A benign or malignant, primary or metastatic neoplasm involving the urinary system. --2003" "" + "breast adenomyoepithelial adenosis" "An uncommon variant of breast adenosis characterized by the presence of irregularly shaped glands, epithelial cells with eosinophilic cytoplasm, and prominent myopepithelial cells. Mild atypia may be present." "" + "stage IVb bladder cancer" "Stage IV includes T4b, NO,MO/any T NI, MO/ any T N2 MO,/ any T N3 MO/ any T any N M1 : T4b: Tumor invades the pelvic wall, abdominal wall. N1: Metastasis in a single lymph node, 2 cm or less in greatest dimension. N2: Metastasis in a single lymph node, more than 2 cm but not more than 5 cm in greatest dimension; or multiple lymph nodes, none more than 5 cm in greatest dimension. N3: Metastasis in a lymph node more than 5 cm in greatest dimension. M1: Distant metastasis." "" + "ovarian serous cystadenofibroma" "A benign neoplasm of the ovary characterized by the presence of cystic structures lined by serous epithelial cells in a fibrotic stroma." "" + "serous cystadenofibroma" "A benign neoplasm characterized by the presence of cystic structures lined by serous epithelial cells in a fibrotic stroma. Most commonly the primary site is the ovary, but serous cystadenofibromas can occur in the pancreas as well." "" + "ovarian serous adenofibroma" "A benign neoplasm of the ovary characterized by the presence of glands with serous epithelial cells in a fibrotic stroma." "" + "cranial nodular fasciitis" "A rare self-limiting, rapidly growing, non-encapsulated benign neoplasm that arises from the cranium. This is an osteolytic lesion. It is characterized by the presence of plump spindle-shaped fibroblasts, multinucleated osteoclast-like giant cells, chronic inflammatory infiltrate, red blood cell extravasation, and high mitotic activity." "" + "nodular fasciitis" "A self-limiting, rapidly growing, non-encapsulated benign neoplasm that arises from the soft tissues. It is characterized by the presence of plump spindle-shaped fibroblasts, multinucleated osteoclast-like giant cells, chronic inflammatory infiltrate, red blood cell extravasation, and high mitotic activity." "" + "fasciitis" "Inflammation process in fascia." "" + "fibroblastic neoplasm" "A benign, intermediate, or malignant mesenchymal neoplasm characterized by the presence of neoplastic fibroblasts." "" + "subcutaneous tissue disorder" "A disease involving the superficial fascia." "" + "esophageal tuberculosis" "A tuberculosis that involves the esophagus." "" + "nephrogenic adenoma of urinary bladder" "A metaplastic lesion of the urothelium found in the urinary bladder. It is characterized by the presence of aggregates of cuboidal or hobnail cells and represents a reaction of the urothelium to injury caused by instrumentation, surgery or calculi." "" + "nephrogenic adenoma" "So-called nephrogenic adenoma is a distinct metaplastic lesion of the urothelium characterized by aggregates of cuboidal or hobnail cells. These cells line thin papillary fronds on the surface or form tubular structures within the lamina propria." "" + "urethra cancer" "A malignant neoplasm involving the urethra" "" + "pediatric ovarian dysgerminoma" "A dysgerminoma that arises from the ovary and occurs in children." "" + "ovarian stromal hyperthecosis" "A non-neoplastic disorder that usually affects postmenopausal women. It is characterized by the leuteinization of ovarian stromal cells. The ovaries are bilaterally involved and enlarged. When it affects women in reproductive age, it causes virilization, high blood pressure, and increased insulin levels." "" + "thymic dysplasia" "The developmental arrest and architectural distortion of the thymus that results in immunodeficiency." "" + "rectal sarcomatoid carcinoma" "A biphasic rectal carcinoma with a spindle cell, sarcomatoid component." "" + "testicular yolk sac tumor, solid pattern" "A yolk sac tumor that arises from the testis and is characterized by the presence of aggregates of polygonal malignant cells with clear cytoplasm and prominent nucleoli." "" + "vulvar keratinizing squamous cell carcinoma" "A squamous cell carcinoma that arises from the vulva and is characterized by the presence of keratin pearls." "" + "superficial urinary bladder carcinoma" "A term used by urologists to describe an infiltrating carcinoma of the bladder that has not invaded into the muscularis propria of the bladder wall regardless of histologic type or grade." "" + "pituitary hypoplasia" "Incomplete development of the pituitary gland." "" + "adrenal medulla carcinoma" "A carcinoma that arises from epithelial cells of the adrenal medulla" "" + "female urethral cancer" "A cancer that involves the female urethra." "" + "squamous cell skin papilloma" "A squamous papilloma that involves the zone of skin." "" + "lymphohistiocytoid mesothelioma" "" + "sarcomatoid mesothelioma" "A diffuse malignant mesothelioma arising from the pleura and less often the peritoneum. It is characterized by the presence of spindle cells. Anaplastic morphologic features and multinucleated malignant cells may also be seen." "" + "malignant pleural mesothelioma" "A malignant neoplasm that arises from mesothelial cells in the pleura and shows a diffuse growth pattern. It arises on the parietal and sometimes visceral pleura as multiple small nodules that later become confluent and invade the chest wall adipose tissue and muscle. Asbestos exposure is the main cause for the development of pleural malignant mesothelioma. It usually affects patients over sixty years of age. The latency period is long. Patients usually present with pleural effusion, dyspnea and chest wall pain. Additional signs and symptoms include chills, sweating, weight loss, and weakness. Morphologic variants include epithelioid, desmoplastic, sarcomatoid, and biphasic mesothelioma. The clinical course is usually aggressive." "" + "pulmonary vein leiomyosarcoma" "An aggressive malignant smooth muscle neoplasm, arising from the pulmonary vein. It is characterized by a proliferation of neoplastic spindle cells." "" + "pulmonary artery leiomyosarcoma" "An aggressive malignant smooth muscle neoplasm, arising from the pulmonary artery It is characterized by a proliferation of neoplastic spindle cells." "" + "superior vena cava leiomyosarcoma" "An aggressive malignant smooth muscle neoplasm, arising from the superior vena cava. It is characterized by a proliferation of neoplastic spindle cells." "" + "cerebral primitive neuroectodermal tumor" "A central nervous system embryonal tumor, not otherwise specified arising from the cerebral hemispheres." "" + "colonic L-cell glucagon-like peptide producing tumor" "A neuroendocrine tumor that arises from the colon and produces glucagon-like peptides. Morphologically, it is characterized by the presence of neoplastic cells forming tubular or trabecular patterns." "" + "L-cell glucagon-like peptide-producing neuroendocrine tumor" "A neuroendocrine tumor that arises from the gastrointestinal tract and produces glucagon-like peptides. Morphologically, it is characterized by the presence of neoplastic cells forming tubular or trabecular patterns." "" + "neuroendocrine tumor of the colon, well differentiated, low or intermediate grade tumor" "A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the colon." "" + "vulvar keratoacanthoma-like carcinoma" "A rapidly growing squamous cell carcinoma that arises from the vulva. It is self-limited and is characterized by the presence of a central crater that contains squamous cells. The proliferating squamous cells infiltrate the dermis below and produce keratin masses that are pushed towards the surface of the tumor." "" + "vulvar non-keratinizing squamous cell carcinoma" "A squamous cell carcinoma that arises from the vulva and is characterized by the absence of keratin pearls." "" + "ovarian endometrioid cystadenofibroma" "A benign neoplasm of the ovary characterized by the presence of cystic structures lined by endometrial-type well-differentiated cells in a fibrotic stroma." "" + "cutaneous anthrax" "An anthrax disease that results in infection located in skin, has material basis in Bacillus anthracis, which is transmitted by contact with infected animals or animal products. The infection has symptom skin lesion that eventually forms an ulcer with a black center." "" + "pineal region germinoma" "A germinoma that arises from the pineal gland." "" + "pituitary hormone deficiency from tumoral origin" "" + "childhood brain germinoma" "A germinoma arising from the brain during childhood." "" + "childhood central nervous system germinoma" "A germinoma arising from the central nervous system during childhood." "" + "childhood germ cell brain tumor" "A germ cell tumor arising from brain during childhood." "" + "polyvesicular vitelline pattern testicular yolk sac tumor" "A yolk sac tumor that arises from the testis and is characterized by the presence of collections of vesicles that are surrounded by connective tissue." "" + "endometrial endometrioid adenocarcinoma with spindled epithelial cells" "A primary endometrioid adenocarcinoma of the endometrium characterized by the presence of spindled malignant epithelial cells." "" + "uterine corpus perivascular epithelioid cell tumor" "A neoplasm with perivascular epithelioid cell differentiation arising from the uterine corpus wall." "" + "ovarian clear cell cystadenocarcinoma" "A malignant glandular epithelial neoplasm arising from the ovary. It is characterized by the presence of clear and hobnail cells and cystic structures." "" + "ovarian clear cell adenocarcinoma" "A malignant glandular epithelial neoplasm characterized by the presence of clear and hobnail cells. It is highly associated with ovarian endometriosis, pelvic endometriosis and paraendocrine hypercalcemia." "" + "polyp of middle ear" "A benign polypoid growth in the middle ear." "" + "chronic metabolic polyneuropathy" "" + "monoclonal gammopathy of uncertain significance" "A condition characterized by the presence of a monoclonal gammopathy (MG) in which the clonal mass has not reached a predefined state in which the condition is considered malignant. Up to 25% of cases of monoclonal gammopathy of undetermined significance (MGUS) progress to a B-cell malignancy or myeloma. MGUS may occur in conjunction with various carcinomas, chronic inflammatory and infectious conditions, and other diseases." "" + "plasma cell neoplasm" "A clonal proliferation of immunoglobulin-secreting plasma cells. This category includes plasma cell myeloma, plasma cell leukemia, plasmacytoma, monoclonal immunoglobulin deposition disease, and monoclonal gammopathy of undetermined significance." "" + "diffuse intraductal papillomatosis" "" + "epididymal adenomatoid tumor" "A benign, usually asymptomatic small mesothelial tumor that arises from the epididymis." "" + "benign neoplasm of epididymis" "A benign neoplasm that involves the epididymis." "" + "obsolete hypogonadotropism" "" "true" + "acantholytic variant squamous cell breast carcinoma" "A squamous cell carcinoma that arises from the breast parenchyma and is characterized by cellular discohesion resulting in a pseudoangiosarcomatous pattern." "" + "spindle cell variant squamous cell breast carcinoma" "A squamous cell carcinoma that arises from the breast parenchyma and is characterized by the presence of spindle-shaped malignant cells." "" + "large cell keratinizing variant squamous cell breast carcinoma" "A squamous cell carcinoma that arises from the breast parenchyma and is characterized by the presence of large malignant cells that exhibit keratinization." "" + "childhood pleomorphic rhabdomyosarcoma" "A rare aggressive rhabdomyosarcoma occurring in children. The neoplasm is characterized by the presence of bizarre round, spindle, and polygonal cells." "" + "pleomorphic rhabdomyosarcoma" "An aggressive malignant mesenchymal neoplasm with skeletal muscle differentiation, occurring in adults and rarely in children. The tumor is characterized by the presence of bizarre round, spindle, and polygonal cells. Clinical presentation includes a rapidly enlarging painful mass usually of the lower extremities." "" + "chronic lymphoproliferative disorder of NK-cells" "An Epstein-Barr virus negative disorder with a chronic clinical course affecting predominantly adults and characterized by the proliferation of large granular lymphocytes with natural killer cell immunophenotype. The T-cell receptor genes are not rearranged." "" + "duodenal somatostatinoma" "A somatostatin-producing neuroendocrine tumor that arises from the duodenum. It is characterized by the presence of tubulo-glandular structures." "" + "duodenal neuroendocrine tumor, well differentiated, low or intermediate grade" "A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the duodenum." "" + "large cell carcinoma with rhabdoid phenotype" "A rare poorly differentiated morphologic variant of large cell lung carcinoma characterized by the presence of rhabdoid cells." "" + "petrous apex meningioma" "A meningioma that affects the petrous apex." "" + "cervical keratinizing squamous cell carcinoma" "A variant of cervical squamous cell carcinoma characterized by the presence of keratin pearls. Intercellular bridges and cytoplasmic keratinization are usually present." "" + "posterior urethra cancer" "A malignant neoplasm that affects the portion of the urethra that is close to the bladder." "" + "Osgood-Schlatter disease" "Osteochondrosis of the growth plate near the tibial tuberosity." "" + "osteochondrosis" "A condition that is characterized by defective bone growth that affects the growth centers of bone." "" + "active peptic ulcer disease" "" + "vulvar proximal-type epithelioid sarcoma" "An epithelioid sarcoma of the proximal type involving the vulva." "" + "proximal-type epithelioid sarcoma" "An epithelioid sarcoma predominantly involving the pelvis, perineum, and genital organs. It tends to have a more aggressive clinical course as compared to the more frequently seen distal-type epithelioid sarcoma." "" + "obsolete lymphatic system disease" "" "true" + "ulcer disease" "A lesion on the surface of the skin or a mucous surface, produced by the sloughing of inflammatory necrotic tissue." "" + "pediatric infratentorial ependymoma" "An ependymoma that arises from the infratentorial region of the brain and occurs during childhood." "" + "infratentorial ependymal tumor" "An ependymal tumor arising from the infratentorial region of the brain." "" + "pediatric supratentorial ependymoma" "An ependymoma that arises from the supratentorial region of the brain and occurs during childhood." "" + "supratentorial ependymal tumor" "An ependymal tumor arising from the supratentorial region of the brain." "" + "extrahepatic bile duct papillary adenoma" "An adenoma that arises from the extrahepatic bile ducts. It is characterized by the presence of a papillary growth pattern." "" + "small intestinal L-cell glucagon-like peptide producing tumor" "A neuroendocrine tumor that arises from the small intestine and produces glucagon-like peptides. Morphologically, it is characterized by the presence of neoplastic cells forming tubular or trabecular patterns." "" + "intraductal breast papillomatosis" "A benign breast neoplasm characterized by the proliferation of multiple papillomas within the lumen of the ducts." "" + "intraductal papillomatosis" "A neoplastic process characterized by the presence of multiple intraductal papillomas." "" + "focal intraductal papillomatosis" "" + "Wolffian adnexal tumor" "A benign or malignant epithelial neoplasm of probable Wolffian origin. It predominantly arises from the broad ligament and presents as a unilateral adnexal mass." "" + "lumbar spinal canal and spinal cord meningioma" "A meningioma that arises from the meninges of the lumbar region of the spinal cord." "" + "childhood central nervous system mixed germ cell tumor" "A mixed germ cell tumor that arises from the central nervous system and occurs during childhood." "" + "mixed germ cell tumor of central nervous system" "A malignant germ cell tumor of the central nervous system characterized by the presence of at least two types of germ cell neoplasia." "" + "female orgasmic disorder" "A sexual disorder in which a woman fails to achieve orgasm during sexual intercourse." "" + "malignant neoplasm of endocervix" "A cancer that involves the endocervix." "" + "peptic ulcer perforation" "Penetration of a peptic ulcer through the wall of duodenum or stomach allowing the leakage of luminal contents into the peritoneal cavity." "" + "periductal breast myoepitheliosis" "A neoplastic process characterized by the proliferation of spindle to cuboidal myoepithelial cells around small breast ducts." "" + "breast myoepitheliosis" "A multifocal neoplastic process characterized by the proliferation of spindle to cuboidal myoepithelial cells within and/or around small breast ducts." "" + "pediatric infratentorial ependymoblastoma" "An embryonal tumor with multilayered rosettes, C19MC-altered that arises from the infratentorial region and occurs in children." "" + "ependymoblastoma" "Ependymoblastoma is a rare type of primitive neuroectodermal tumor (PNET) that usually occurs in young children under the age of 2 and is histologically distinguished by the production of ependymoblastic rosettes. It is associated with an aggressive course and a poor prognosis." "" + "acute gonococcal endometritis" "" + "acute endometritis" "An acute, usually bacterial infection affecting the endometrium. It is characterized by the presence of neutrophils or microabscesses in the endometrial glands. Symptoms include fever, lower abdominal pain, and vaginal discharge." "" + "anal gland adenocarcinoma" "An anal adenocarcinoma arising from the epithelium of the anal glands. The overlying anal mucosa does not show evidence of neoplastic changes." "" + "squamous papillomatosis" "A benign squamous neoplasm characterized by a papillary growth pattern, diffusely involving a specific anatomic site." "" + "subareolar duct papillomatosis" "" + "breast cystic hypersecretory carcinoma" "" + "breast ductal adenoma" "A benign, well circumscribed neoplasm that is located within the lumen of a duct in the breast parenchyma. It is characterized by the presence of glandular structures at the periphery and fibrous tissue at the center of the tumor." "" + "pregnancy adenoma" "A tubular type adenoma of the breast in which, during pregnancy and lactation, the epithelial cells show extensive secretory changes." "" + "urinary bladder tuberculosis" "A tuberculosis that involves the urinary bladder." "" + "breast apocrine adenoma" "A rare, benign and well circumscribed neoplasm that arises from the breast. It is characterized by the proliferation of epithelial cells with extensive apocrine metaplasia." "" + "mixed epithelial/mesenchymal metaplastic breast carcinoma" "An invasive breast carcinoma characterized by the presence of a mesenchymal cellular component. The mesenchymal cellular component ranges from cartilaginous and osseous, to purely sarcomatous." "" + "osteosarcoma arising in bone Paget disease" "A sarcomatous transformation of pre-existing Paget disease of the bone. Osteosarcomas arising from Paget disease of the bone are high grade lesions and usually have a poor prognosis." "" + "ceruminoma" "A benign epithelial neoplasm derived from ceruminous glands in the external auditory canal. It presents as a grey mass covered by skin. It is characterized by a proliferation of glands composed of cells with abundant eosinophilic and granular cytoplasm." "" + "infiltrating bladder urothelial carcinoma sarcomatoid variant" "An invasive transitional cell carcinoma of the bladder that exhibits spindle cell sarcomatoid features." "" + "glossopharyngeal motor neuropathy" "Diseases of the ninth cranial (glossopharyngeal) nerve or its nuclei in the medulla. The nerve may be injured by diseases affecting the lower brain stem, floor of the posterior fossa, jugular foramen, or the nerve's extracranial course. Clinical manifestations include loss of sensation from the pharynx, decreased salivation, and syncope. Glossopharyngeal neuralgia refers to a condition that features recurrent unilateral sharp pain in the tongue, angle of the jaw, external auditory meatus and throat that may be associated with syncope. Episodes may be triggered by cough, sneeze, swallowing, or pressure on the tragus of the ear. (Adams et al., Principles of Neurology, 6th ed, p1390)" "" + "asymmetric motor neuropathy" "" + "vulvar eccrine porocarcinoma" "An eccrine porocarcinoma that arises from the sweat glands in the vulva." "" + "eccrine porocarcinoma" "A carcinoma with eccrine differentiation arising from the sweat glands. It may arise de novo or as a malignant transformation of a pre-existing poroma. It usually grows in the legs, buttocks, feet, and trunk and usually presents as an ulcerative plaque. It is characterized by the presence of intraepidermal and dermal nests of malignant epithelial cells. It may recur after excision and metastasize to the lymph nodes and less frequently to distal anatomic sites." "" + "obsolete eccrine porocarcinoma" "" "true" + "vulvar clear cell hidradenocarcinoma" "A vulvar sweat gland carcinoma characterized by the presence of clear cells." "" + "hidradenocarcinoma" "A carcinoma with apocrine and less often eccrine differentiation, arising from the sweat glands. It usually presents as a solitary slow growing nodule in the dermis or subcutaneous tissues. It is characterized by a nodular growth pattern and it is often associated with necrotic changes." "" + "obsolete malignant cystic nephroma" "" "true" + "pancreatic intraductal papillary-mucinous carcinoma" "A malignant glandular neoplasm arising from the exocrine pancreas. Microscopically it is characterized by the presence of mucoid stroma formation, papillary patterns, and cystic changes. It has been associated with KRAS and Tp53 gene mutations." "" + "exocrine pancreatic carcinoma" "A carcinoma that arises from epithelial cells of the exocrine pancreas" "" + "pancreatic intraductal papillary-mucinous neoplasm" "A usually slow-growing epithelial neoplasm with ductal differentiation that arises from the exocrine pancreas and grows mostly within the pancreatic ducts. Grossly, it is characterized by the presence of intraductal masses. Morphologically, there is proliferation of mucin-producing cells within the pancreatic ducts, intraductal accumulation of mucin, and a papillary growth pattern. It may be associated with the presence of an invasive carcinoma. It usually occurs in older patients. Signs and symptoms include epigastric pain, weight loss, jaundice, chronic pancreatitis, and diabetes mellitus." "" + "pancreatic foamy gland adenocarcinoma" "A pancreatic ductal adenocarcinoma characterized by the presence of adenocarcinoma cells with foamy cytoplasm." "" + "scirrhous breast carcinoma" "An infiltrating ductal breast carcinoma associated with stromal fibrosis." "" + "glottis verrucous carcinoma" "An exophytic, slow growing, well differentiated and non-metastasizing squamous cell carcinoma with pushing margins that arises from the glottic area of the larynx. It usually presents with hoarseness." "" + "subglottis verrucous carcinoma" "An exophytic, slow growing, well differentiated and non-metastasizing squamous cell carcinoma with pushing margins that arises from the subglottic area of the larynx." "" + "subglottis squamous cell carcinoma" "A squamous cell carcinoma of the larynx that arises from the subglottic area. Symptoms include dyspnea and stridor. It spreads to the hypopharynx, trachea, and thyroid gland." "" + "subglottis carcinoma" "A carcinoma of the larynx that arises from the subglottic area." "" + "supraglottis verrucous carcinoma" "An exophytic, slow growing, well differentiated and non-metastasizing squamous cell carcinoma with pushing margins that arises from the supraglottic area of the larynx." "" + "supraglottis squamous cell carcinoma" "A squamous cell carcinoma of the larynx that arises from the supraglottic area. Signs and symptoms include dysphagia, a sensation of foreign body in the throat, and hemoptysis. It spreads to the space anterior to the epiglottis, pyriform sinus, and base of the tongue." "" + "carcinoma of supraglottis" "A carcinoma of the larynx that arises from the supraglottic area." "" + "gestational ovarian choriocarcinoma" "A rare malignant trophoblastic tumor that arises from the ovary as a result of ectopic ovarian pregnancy. There is no germ cell component present." "" + "gestational choriocarcinoma" "Gestational choriocarcinoma is a gestational trophoblastic tumor (GTT) occurring secondary to pregnancy (ectopic or normal), miscarriage, voluntary termination of pregnancy (VTP) or a hydatidiform mole." "" + "asbestos-related lung carcinoma" "A carcinoma arising in the lung due to exposure to asbestos." "" + "cervical lymphoepithelioma-like carcinoma" "A variant of cervical squamous cell carcinoma characterized by the presence of islands of cells with uniform, vesicular nuclei and prominent nucleoli and a dense lymphocytic infiltrate." "" + "lymphoepithelioma-like thymic carcinoma" "A rare, usually aggressive primary thymic carcinoma, characterized by a syncytial growth of undifferentiated carcinoma cells and the presence of a lymphoplasmacytic infiltrate. More than 40% of cases are associated with Epstein-Barr virus infection." "" + "infiltrating bladder lymphoepithelioma-like carcinoma" "" + "obsolete intracortical osteogenic sarcoma" "" "true" + "fibrosarcomatous osteosarcoma" "A conventional osteosarcoma characterized by the presence of spindle shaped cells." "" + "chief cell adenoma" "A parathyroid gland adenoma composed predominantly of neoplastic chief cells. These cells have either slightly eosinophilic or vacuolated cytoplasm, and round nuclei." "" + "parathyroid gland adenoma" "A benign tumor arising from the parenchymal cells of the parathyroid glands. In the vast majority of cases, the tumor involves a single parathyroid gland. It is associated with the symptoms of primary hyperparathyroidism, resulting from the excessive production of parathyroid hormone. It is usually surrounded by a well-defined capsule. Capsular invasion, vascular invasion, and perineural invasion are absent." "" + "parathyroid gland clear cell adenoma" "A parathyroid gland adenoma composed predominantly of neoplastic cells with clear cytoplasm." "" + "mixed cell type adenoma of parathyroid" "A parathyroid gland adenoma that contains a mixture of neoplastic cells (chief cells, oncocytes, and clear cells)." "" + "parathyroid oncocytic adenoma" "A parathyroid gland adenoma composed predominantly or entirely of neoplastic cells with abundant granular eosinophilic cytoplasm." "" + "childhood intracortical osteosarcoma" "A high grade malignant bone-forming mesenchymal neoplasm that produces osteoid and occurs in childhood. It arises from the medullary portion of the bone. It affects the long bones, and most commonly, the distal femur, proximal tibia, and proximal humerus. Pain with or without a palpable mass is the most common clinical presentation. It usually has an aggressive growth and may metastasize through the hematogenous route. The lung is the most frequent site of metastasis." "" + "sarcomatosis of the meninges" "A rare condition characterized by diffuse spread of sarcoma cells throughout the meninges. The neoplastic cells are derived from meningeal connective tissue. Clinically, this disorder may present as a fulminant pachymeningitis and/or encephalitis." "" + "sarcomatosis" "The occurrence of several sarcomas in different anatomic locations." "" + "meningeal sarcoma" "A rare sarcoma arising from the meninges." "" + "adult embryonal tumor with multilayered rosettes, c19mc-altered" "An embryonal tumor with multilayered rosettes, C19MC-altered, occurring in adults." "" + "carcinoma of Cowper glands" "A carcinoma that involves the bulbo-urethral gland." "" + "suprasellar meningioma" "A meningioma that affects the suprasellar region." "" + "gasserian ganglion meningioma" "A meningioma that affects the trigeminal ganglion." "" + "malignant cutaneous granular cell skin tumor" "" + "cholangiolocellular carcinoma" "An intrahepatic cholangiocarcinoma that arises from the canals of Hering." "" + "acantholytic squamous cell skin carcinoma" "A histologic variant of squamous cell carcinoma that arises from the skin. It is characterized by loosening of the intercellular bridges between the malignant cells which results in acantholysis." "" + "multiple spinal canal and spinal cord meningioma" "Multiple meningiomas that arises from the spinal meninges." "" + "pulmonary type ovarian small cell carcinoma" "An aggressive small cell neuroendocrine carcinoma that arises from the ovary. Morphologically, it resembles the small cell carcinoma that arises from the lung." "" + "hypercalcemic type ovarian small cell carcinoma" "An undifferentiated small cell carcinoma that arises from the ovary and is associated with hypercalcemia. Electron microscopic studies show neurosecretory granules are either absent or, when present, are in small numbers." "" + "adult infiltrating astrocytic neoplasm" "" + "endometrial mixed adenocarcinoma" "An adenocarcinoma that arises from the endometrium and is characterized by the presence of both type I and type II endometrial adenocarcinoma components. The minor component constitutes at least 5% of the entire tumor." "" + "non-gestational ovarian choriocarcinoma" "A malignant germ cell tumor that arises from the ovary and is composed of cytotrophoblasts, syncytiotrophoblasts, and extravillous trophoblasts. The prognosis is less favorable than gestational choriocarcinoma." "" + "muscular atrophy" "The loss of muscle tissue due to inactivity or disease." "" + "testicular fibroma" "A benign neoplasm that arises from the testis and is characterized by the presence of fusiform cells and collagenization." "" + "fibroma" "A non-metastasizing neoplasm arising from the fibrous tissue. It is characterized by the presence of spindle-shaped fibroblasts." "" + "testicular thecoma" "A rare benign tumor that arises from the testis and is characterized by the presence of lipid-rich neoplastic spindle cells." "" + "thecoma" "An ovarian or testicular stromal tumor characterized by the presence of lipid-rich neoplastic spindle cells. In females, uterine bleeding is the most common symptom. A minority of post-menopausal women with thecoma have an associated endometrial adenocarcinoma or rarely a malignant mixed mullerian tumor or endometrial stromal sarcoma. Rare cases with nuclear atypia and mitotic activity may metastasize. In males, thecomas are rare and they usually present as slow growing, sometimes painful masses. Metastases have not been reported." "" + "sphenoid sinus inverted papilloma" "A benign neoplasm that arises from the ciliated respiratory mucosa that lines the sphenoid sinus. It results from the invagination and proliferation of epithelial cells in the underlying stroma." "" + "sphenoid sinus Schneiderian papilloma" "A papilloma that arises from the ciliated respiratory mucosa that lines the sphenoid sinus. It is classified as inverted papilloma and oncocytic papilloma." "" + "benign neoplasm of sphenoidal sinus" "A non-metastasizing neoplasm that arises from the sphenoid sinus." "" + "maxillary sinus adenocarcinoma" "An adenocarcinoma that arises from the maxillary sinus. It is classified as intestinal-type or non-intestinal-type adenocarcinoma. Nasal obstruction and epistaxis are the presenting signs." "" + "pancreatic intraductal papillary-mucinous neoplasm with high grade dysplasia" "A non-invasive pancreatic intraductal papillary mucinous neoplasm characterized by the presence of neoplastic epithelial cells that exhibit loss of polarity, nuclear stratification, hyperchromasia, and pleomorphism. There is severe architectural atypia and frequent mitotic figures present." "" + "leptomeningeal sarcoma" "A sarcoma arising from the leptomeninges." "" + "bladder urachal adenocarcinoma" "A adenocarcinoma that involves the urachus." "" + "lung hilum cancer" "A malignant neoplasm involving the lung hilus." "" + "pancreatic ACTH-producing neuroendocrine tumor" "A malignant, ectopic ACTH secreting pancreatic neuroendocrine tumor, associated with Cushing's syndrome. The prognosis is usually poor." "" + "functional pancreatic neuroendocrine tumor" "A low or intermediate grade well differentiated tumor with neuroendocrine differentiation that arises from the pancreas. It is characterized by the presence of a clinical syndrome that results from hormone hypersecretion." "" + "Cushing syndrome" "Cushing's syndrome (CS) encompasses a group of hormonal disorders caused by prolonged and high exposure levels to glucocorticoids that can be of either endogenous (adrenal cortex production) or exogenous (iatrogenic) origin." "" + "non-functional pancreatic neuroendocrine tumor" "A low or intermediate grade well differentiated tumor with neuroendocrine differentiation that arises from the pancreas. It is characterized by the absence of a hormone-related clinical syndrome." "" + "rectal signet ring cell adenocarcinoma" "An infiltrating adenocarcinoma arising from the rectum. It is characterized by the presence of malignant glandular cells with prominent intracytoplasmic mucin. These cells constitute more than 50% of the malignant cellular population." "" + "perianal skin Paget disease" "Paget disease involving the perianal skin." "" + "retinal cell cancer" "" + "retinal cell neoplasm" "A neoplasm arising from the neural retina. This category includes retinoblastoma and retinocytoma." "" + "tuberculum sellae meningioma" "A meningioma that affects the tuberculum sellae." "" + "mixed ductal-endocrine carcinoma of pancreas" "A carcinoma that arises from the pancreas showing a mixture of ductal and neuroendocrine malignant cells in both the primary tumor and in the metastatic sites." "" + "colloid carcinoma of the pancreas" "An infiltrating pancreatic ductal adenocarcinoma, characterized by the presence of malignant cells floating in pools of mucin. It has a more favorable prognosis than the conventional infiltrating ductal adenocarcinoma. It often arises in association with intraductal pancreatic mucinous neoplasms and in some cases it may result in the development of pseudomyxoma peritonei." "" + "obsolete osteoclast-like giant cell neoplasm of the pancreas" "" "true" + "pancreatic acinar cell cystadenocarcinoma" "A cystic adenocarcinoma characterized by the presence of relatively uniform neoplastic cells which produce pancreatic enzymes and are arranged in acinar patterns. Signs and symptoms include abdominal pain, weight loss, nausea, and diarrhea. It usually has an aggressive clinical course." "" + "pancreatic acinar cell carcinoma" "An adenocarcinoma arising from the pancreas. It is characterized by the presence of relatively uniform malignant cells which form acinar patterns. It usually occurs during adulthood. Signs and symptoms include abdominal pain, weight loss, nausea, and diarrhea. It may metastasize to regional lymph nodes and the liver. A minority of patients develop lipase hypersecretion syndrome. This syndrome may be seen in patients with liver metastases and it is characterized by excessive secretion of lipase in the serum, polyarthralgia, and subcutaneous fat necrosis." "" + "childhood malignant hemangiopericytoma" "A malignant hemangiopericytoma occurring in childhood." "" + "childhood malignant schwannoma" "A malignant peripheral nerve sheath tumor occurring in children." "" + "signet ring cell intrahepatic cholangiocarcinoma" "An intrahepatic cholangiocarcinoma characterized by the presence of signet ring adenocarcinoma cells." "" + "" "true" + "pancreatic mucinous cystadenoma" "A non-metastasizing cystic epithelial neoplasm arising from the exocrine pancreas. It is composed of columnar, mucin-producing epithelial cells. It occurs almost exclusively in women. Large tumors are often accompanied by a palpable abdominal mass." "" + "retinal telangiectasia" "" + "retina lymphoma" "A lymphoma that involves the retina." "" + "pediatric extraocular retinoblastoma" "Retinoblastoma during childhood that has spread beyond the eye." "" + "intraocular lymphoma" "A lymphoma that arises within the eye. Signs and symptoms include decreased vision, uveitis, and vitreous floaters." "" + "adult brain ependymoma" "An ependymoma of the brain occurring in adults." "" + "extrahepatic biliary papillomatosis" "A non-invasive, papillary epithelial neoplasm that arises from the epithelium of the extrahepatic bile ducts." "" + "neonatal leukemia" "Leukemia that occurs during the neonatal period." "" + "childhood multilocular cystic kidney neoplasm" "A cystic neoplasm which arises from the kidney and occurs in children. It includes the cystic partially differentiated nephroblastoma and cases in which nephroblastomatous elements are not present." "" + "breast extraskeletal osteosarcoma" "An osteosarcoma arising from the breast tissue." "" + "adult spinal cord ependymoma" "An ependymoma of the spinal cord occurring in adults." "" + "obsolete placenta disease" "" "true" + "adult spinal cord glioblastoma" "A rare spinal tumor which is highly malignant and tends to be locally invasive of surrounding neural tissue. The tumor also tends to spread throughout the neuroaxis and is often rapidly progressive. Histologically the tumors are highly cellular with nuclear and cellular pleomorphism, endothelial proliferation, mitotic figures, and, often, necrosis. This tumor has a relatively poor prognosis. Clinical features may include pain followed by rapidly progressive neurologic deficits such as extremity weakness, sensory changes, spasticity, and incontinence. (From Innocenzi et al., Clin Neurol Neurosurg 1997 Feb;99(1):1-5)" "" + "adult glioblastoma" "" + "choroid necrotic melanoma" "" + "necrotic uveal melanoma" "A uveal melanoma characterized by the presence of tumor cell necrosis." "" + "mixed astrocytoma-ependymoma-oligodendroglioma" "A mixed glioma characterized by the presence of astrocytic, ependymal, and oligodendroglial neoplastic components." "" + "petroclival meningioma" "A meningioma that affects the petroclival region." "" + "sphenoorbital meningioma" "A meningioma that affects the sphenoorbital region." "" + "renal infectious disease" "" + "sphenocavernous meningioma" "A meningioma that affects the sphenocavernous region." "" + "spinal multifocal clear cell meningioma" "A clear cell meningioma arising in multiple areas of the spinal cord characterized by the presence of clear glycogen-rich polygonal cells." "" + "chronic toxic polyneuropathy" "" + "adult papillary meningioma" "A papillary meningioma occurring in adults." "" + "adult extraskeletal osteosarcoma" "An osteosarcoma arising from the soft tissue, and occurring in adults." "" + "end stage renal failure" "Long-standing and persistent renal disease with glomerular filtration rate (GFR) less than 15 ml/min." "" + "infiltrating nipple syringomatous adenoma" "An invasive, non-metastasizing neoplasm with sweat duct differentiation that arises in the area of the nipple. Local recurrences have been reported." "" + "pancreatic non-functioning delta cell tumor" "A usually malignant neuroendocrine tumor arising from the delta cells of the pancreas. It is not associated with a hormonal syndrome." "" + "pediatric cerebral ependymoblastoma" "An embryonal tumor with multilayered rosettes, C19MC-altered that arises from the cerebral hemispheres and occurs in children." "" + "dendritic cell sarcoma" "A sarcoma that involves the dendritic cell." "" + "histiocytic and dendritic cell neoplasm" "Rare tumors that affect the hematopoietic and lymphoid tissues. The cells of origin are the histiocytes and accessory cells. They can occur at any age and show no significant variations in geographical distribution. This category includes the histiocytic sarcoma, Langerhans cell histiocytosis, Langerhans cell sarcoma, interdigitading dendritic cell sarcoma/tumor, follicular dendritic cell sarcoma/tumor, and dendritic cell sarcoma, not otherwise specified. (WHO, 2001)" "" + "pancreatic intraductal papillary-mucinous neoplasm with low grade dysplasia" "A non-invasive pancreatic intraductal papillary mucinous neoplasm characterized by the presence of neoplastic epithelial cells that form a single layer and are well polarized. The neoplastic cells exhibit small and uniform nuclei, mild pleomorphism, and rare mitotic figures." "" + "adult central nervous system germinoma" "A central nervous system germinoma that occurs in an adult." "" + "maxillary sinus inverted papilloma" "A benign neoplasm that arises from the ciliated respiratory mucosa that lines the maxillary sinus. It results from the invagination and proliferation of epithelial cells in the underlying stroma." "" + "maxillary sinus Schneiderian papilloma" "A papilloma that arises from the ciliated respiratory mucosa that lines the maxillary sinus. It is classified as inverted papilloma and oncocytic papilloma." "" + "adult xanthogranuloma" "A xanthogranuloma that occurs in an adult." "" + "xanthogranuloma" "" + "uterine corpus atypical polypoid adenomyoma" "An adenomyoma that arises from the uterine corpus and is characterized by the presence of marked glandular architectural complexity. It may recur following excision." "" + "luteoma of pregnancy" "A non-neoplastic and self-limited condition that occurs during pregnancy. It is characterized by proliferation of luteinized stromal cells that replace the normal ovarian stromal cells. It is usually manifested with bilateral multinodular ovarian masses. Treatment is not required." "" + "obsolete testicular spermatocytic seminoma" "" "true" + "mite infestation" "Infestations with arthropods of the subclass acari, superorder Acariformes." "" + "obsolete adult extraosseous chondrosarcoma" "A extraosseous chondrosarcoma that occurs in an adult." "" "true" + "intracranial extraskeletal myxoid chondrosarcoma" "An extraskeletal myxoid chondrosarcoma arising from the structures within the cranium." "" + "extraskeletal myxoid chondrosarcoma" "A rare malignant soft tissue neoplasm of uncertain differentiation, characterized by the presence of chondroblast-like cells in a myxoid stroma and a multinodular growth pattern. The most common sites of involvement are the deep soft tissues of the extremities, particularly the thigh. It usually presents as an enlarging soft tissue mass. Patients may have long survivals, but local recurrences and metastases occur in approximately half of the cases. The most common site of metastasis is the lungs." "" + "mixed astrocytoma-ependymoma" "A tumor of mixed cell type with astrocytic components as well as ependymoma components." "" + "maxillary sinus squamous cell carcinoma" "A squamous cell carcinoma that arises from the mucosal epithelial surface of the maxillary sinus. Patients may present with nasal fullness, obstruction, and/or epistaxis." "" + "obsolete mixed oligodendroglioma-astrocytoma" "" "true" + "cervical spinal canal and spinal cord meningioma" "A meningioma that arises from the meninges of the cervical region of the spinal cord." "" + "benign mediastinal psammomatous neurilemmoma" "A schwannoma that arises from the posterior mediastinum. It is characterized by the presence of psammoma bodies." "" + "mediastinal schwannoma" "A schwannoma that arises from the posterior mediastinum. It is the most common neurogenic tumor of the mediastinum. Excision is usually curative." "" + "obsolete epithelial malignant thymoma" "" "true" + "malignant type A thymoma" "A type A thymoma which is characterized by an aggressive clinical course (capsular invasion, infiltration of the surrounding tissues) and can metastasize." "" + "testis refractory cancer" "Malignant testicular germ cell tumor that is resistant to treatment." "" + "refractory malignant neoplasm" "A malignant neoplasm that does not respond to treatment." "" + "testicular yolk sac tumor, glandular-alveolar pattern" "A yolk sac tumor that arises from the testis and is characterized by the presence of gland-like spaces, irregular alveoli, and tubular structures." "" + "refractory precursor T-lymphoblastic lymphoma/leukemia" "T-lymphoblastic leukemia/lymphoma resistant to treatment" "" + "Barrett adenocarcinoma" "An adenocarcinoma arising from Barrett metaplastic epithelium in the esophagus. There is evidence supporting the idea that the Barrett adenocarcinomas develop through a stepwise progression through intestinal metaplastic epithelium to epithelial dysplasia to malignancy. Adenocarcinomas arising in the setting of Barrett esophagus are typically papillary and/or tubular. In terms of grading, they are well or moderately differentiated adenocarcinomas. -- 2002" "" + "adult central nervous system mixed germ cell tumor" "A mixed germ cell tumor of central nervous system that occurs in an adult." "" + "stroma-dominant and stroma-poor composite ganglioneuroblastoma" "A neuroblastic tumor characterized by the presence of a ganglioneuroblastoma component and the formation of Schwannian stroma which is the predominant component of the tumor volume." "" + "schwannian stroma-rich and stroma-poor composite ganglioneuroblastoma" "A neuroblastic tumor characterized by the presence of a ganglioneuroblastoma component and the formation of Schwannian stroma which constitutes more than fifty-percent of the tumor volume." "" + "nipple duct carcinoma" "A carcinoma that develops in the ducts of the nipple." "" + "sarcomatoid penile squamous cell carcinoma" "A squamous cell carcinoma that arises from the penis and is characterized by the presence of malignant spindle-shaped cells." "" + "duodenal gastrin-producing neuroendocrine tumor" "A gastrin-producing neuroendocrine tumor that arises from the duodenum. It is characterized by the presence of uniform cells that form pseudorosettes. The neoplastic cells have uniform nuclei and small amount of eosinophilic cytoplasm." "" + "malignant spiradenoma" "A very rare, aggressive carcinoma of the sweat glands arising from malignant transformation of a long standing spiradenoma. It usually grows in the upper extremities, lower extremities, trunk, and head and neck. It has the tendency to recur and metastasize most often to the lymph nodes, bones, and lungs." "" + "cervical non-keratinizing squamous cell carcinoma" "A variant of cervical squamous cell carcinoma characterized by the presence of polygonal squamous cells. Intercellular bridges and cytoplasmic keratinization may be present, but keratin pearls are absent." "" + "tamoxifen-related endometrial lesion" "A spectrum of endometrial abnormalities that occur in women who use tamoxifen to treat or prevent the development of breast cancer. These abnormalities include endometrial polyps, endometrial hyperplasia, and endometrial carcinoma." "" + "lipid-cell variant infiltrating bladder urothelial carcinoma" "" + "plasmacytoid variant infiltrating bladder urothelial carcinoma" "" + "nested variant infiltrating bladder urothelial carcinoma" "" + "microcystic variant infiltrating bladder urothelial carcinoma" "" + "lymphoma-like variant infiltrating bladder urothelial carcinoma" "" + "breast malignant eccrine spiradenoma" "A rare tumor characterized by malignant transformation of an eccrine spiradenoma of the breast." "" + "sclerosing breast papilloma" "A breast papilloma characterized by the presence of predominant sclerosing architectural features." "" + "cerebral falx meningioma" "A meningioma that affects the falx cerebri." "" + "central nervous system extraskeletal osteosarcoma" "An osteosarcoma arising from the brain or spinal cord." "" + "obsolete familial glomangioma" "" "true" + "frontal convexity meningioma" "A meningioma that affects the frontal sulcus." "" + "alveoli adenoma" "A benign, well circumscribed lung neoplasm morphologically characterized by the presence of cystic spaces resembling alveoli, lined by a simple cuboidal epithelium. The cystic spaces are surrounded by a spindle cell stroma which may show myxoid changes. It is a solitary, usually peripheral lung lesion. Patients are usually asymptomatic and its discovery is an incidental finding during chest X-ray examination. Surgical excision is curative." "" + "skin meningioma" "A meningioma (disease) that involves the zone of skin." "" + "penis mixed squamous cell carcinoma" "A squamous cell carcinoma that arises from the penis and is characterized by a mixture of morphologic patterns (e.g., high grade squamous cell carcinoma and verrucous carcinoma or warty-basaloid carcinoma)." "" + "hemarthrosis" "Bleeding into the joints. It may arise from trauma or spontaneously in patients with hemophilia." "" + "mature pericardial teratoma" "A benign teratoma that arises from the pericardium." "" + "obsolete glomangiomyoma" "" "true" + "liver fibrosarcoma" "A usually aggressive malignant neoplasm arising from the liver. It is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation in a herringbone growth pattern." "" + "ovarian myxoid liposarcoma" "A liposarcoma that arises from the ovary and is composed of round to oval mesenchymal cells, small signet ring lipoblasts, and a rich network of capillaries in a myxoid stroma." "" + "obsolete gastric signet ring cell adenocarcinoma" "" "true" + "sporadic breast cancer" "A carcinoma that arises from the breast and is not caused by inherited genetic mutations." "" + "periocular meningioma" "A meningioma that affects the periocular region." "" + "pineal region meningioma" "A meningioma that affects the pineal gland." "" + "childhood ovarian embryonal carcinoma" "An embryonal carcinoma that arises from the ovary and occurs in children." "" + "testis polyembryoma" "A rare malignant germ cell tumor that arises from the testis and is characterized by the presence of embryoid bodies." "" + "chest wall parachordoma" "A parachordoma arising from the chest wall." "" + "parachordoma" "A rare, usually benign myoepithelial tumor characterized by the presence of epithelioid, often vacuolated neoplastic cells. Most patients present with painless swelling in the subcutaneous or subfascial soft tissues of the extremities." "" + "neoplasm of chest wall" "A neoplasm (disease) that involves the chest wall." "" + "bladder tubulo-cystic clear cell adenocarcinoma" "A rare morphologic variant of bladder carcinoma characterized by the presence of malignant glandular epithelial cells and clear cells forming a tubulo-cystic pattern." "" + "bladder papillary clear cell adenocarcinoma" "A rare morphologic variant of bladder adenocarcinoma characterized by the presence of malignant glandular epithelial cells and clear cells forming a papillary pattern." "" + "olfactory groove meningioma" "A meningioma that affects the olfactory sulcus." "" + "pituitary stalk meningioma" "A meningioma that affects the pituitary stalk." "" + "frontal sinus inverted papilloma" "A benign neoplasm that arises from the ciliated respiratory mucosa that lines the frontal sinus. It results from the invagination and proliferation of epithelial cells in the underlying stroma." "" + "intraductal breast myoepitheliosis" "A neoplastic process characterized by the proliferation of spindle to cuboidal myoepithelial cells within small breast ducts." "" + "carotid artery occlusion" "A occlusion precerebral artery that involves the carotid artery segment." "" + "sarcomatous intrahepatic cholangiocarcinoma" "A rare, aggressive variant of intrahepatic cholangiocarcinoma. It is characterized by the presence of adenocarcinoma cells that are intermingled with malignant pleomorphic spindle cells." "" + "testicular yolk sac tumor, myxomatous pattern" "A yolk sac tumor that arises from the testis and is characterized by the presence of myxomatous tissue that contains collections of malignant cells with prominent nucleoli." "" + "cellular congenital mesoblastic nephroma" "A congenital mesoblastic nephroma characterized by increased cellularity, sheet-like proliferation of fibroblastic cells, and increased mitotic activity. Necrotic changes are commonly present." "" + "congenital mesoblastic nephroma" "A low grade childhood congenital malignant neoplasm arising from the kidney. It is characterized by the presence of fibroblastic cells. The majority of cases occur in the first year of life. Complete excision is usually associated with an excellent prognosis." "" + "classic congenital mesoblastic nephroma" "A congenital mesoblastic nephroma characterized by the presence of interlacing fascicles of fibroblastic cells, low mitotic activity, and collagen formation." "" + "cocaine abuse" "Disorders related or resulting from use of cocaine." "" + "benign neoplasm of maxillary sinus" "A benign neoplasm that involves the maxillary sinus." "" + "bladder mixed adenocarcinoma" "" + "bladder hepatoid adenocarcinoma" "A hepatoid adenocarcinoma that involves the urinary bladder." "" + "hepatoid adenocarcinoma" "An adenocarcinoma with morphologic characteristics similar to hepatocellular carcinoma, arising from an anatomic site other than the liver." "" + "thyroid gland fetal adenoma" "A thyroid gland adenoma composed of microfollicular structures." "" + "vaginal tubulovillous adenoma" "An adenoma that arises from the vagina and is characterized by a tubulovillous architectural pattern." "" + "tubulovillous adenoma" "An epithelial neoplasm morphologically characterized by the presence of a villous and a tubular architectural pattern. Most often it occurs in the large intestine, small intestine, and the stomach in which the neoplastic epithelial cells show dysplastic features." "" + "extrahepatic bile duct cystadenoma" "A mucinous cystic neoplasm that arises from the extrahepatic bile ducts." "" + "cellular phase chronic idiopathic myelofibrosis" "Primary myelofibrosis characterized by bone marrow hypercellularity and the presence of atypical megakaryocytes. There is no increase in the percentage of myeloblasts and no significant increase in reticulin or collagen fibrosis in the bone marrow." "" + "primary myelofibrosis" "Myelofibrosis with myeloid metaplasia is a myeloproliferative disease with annual incidence of approximately 1 case per 100,000 individuals and age at diagnosis around 60 (an increased prevalence is noted in Ashkenazi Jews). Clinical manifestations depend on the type of blood cell affected and may include anemia, pallor, splenomegaly, hypermetabolic state, petechiae, ecchymosis, bleeding, lymphadenopathy, hepatomegaly, portal hypertension." "" + "nephrogenic adenoma of the urethra" "A metaplastic lesion of the urothelium found in the urethra. It is characterized by the presence of aggregates of cuboidal or hobnail cells and represents a reaction of the urothelium to injury caused by instrumentation, surgery or calculi." "" + "periampullary adenocarcinoma" "An adenocarcinoma that arises from the periampullary region." "" + "neuronitis" "" + "mature gastric teratoma" "A benign teratoma that arises from the stomach." "" + "anal canal Paget disease" "Paget disease involving the squamous epithelium of the anal canal." "" + "pseudovascular skin squamous cell carcinoma" "" + "obsolete osteochondrosis" "" "true" + "bacterial arthritis" "The inflammation of one or more joints caused by a bacterial infection within the joint space. Symptoms include pain, stiffness, and decreased range of motion in the affected joint." "" + "infective arthritis" "The inflammation of one or more joints caused by any infectious pathogen within the joint space. Symptoms include pain, stiffness, and decreased range of motion in the affected joint." "" + "breast columnar cell mucinous carcinoma" "An invasive breast adenocarcinoma characterized by the presence of tall columnar neoplastic cells that contain intracytoplasmic mucin. Grossly, cystic changes are not identified." "" + "epiglottis cancer" "A malignant neoplasm that affects the epiglottis. The vast majority of cases are squamous cell carcinomas." "" + "hypopharyngeal carcinoma" "Carcinoma, predominantly squamous cell, arising from the epithelial cells of the hypopharynx." "" + "gallbladder lymphoma" "A lymphoma that arises from the gallbladder, with the bulk of the tumor located at this site." "" + "thymus clear cell carcinoma" "A rare, usually aggressive, primary thymic carcinoma, characterized by the presence of carcinoma cells with clear cytoplasm." "" + "obsolete thymus sarcomatoid carcinoma" "A rare, usually aggressive, primary thymic carcinoma, characterized by the presence of tumor cells morphologically resembling soft tissue sarcoma." "" "true" + "adrenal gland ganglioneuroblastoma" "A ganglioneuroblastoma arising from the adrenal gland." "" + "adrenal gland neuroblastoma" "A neuroblastoma arising from the adrenal gland." "" + "pregerminal center chronic lymphocytic leukemia/small lymphocytic lymphoma" "A recently recognized variant of chronic lymphocytic leukemia/small lymphocytic lymphoma (CLL/SLL) that lacks somatic hypermutations of the Immunoglobulin heavy chain (IGH) genes, implying pregerminal center B-cell origin. Microarray gene expression profiling studies have demonstrated the expression of ZAP-70 gene (Syk family tyrosine kinase) in this subset of CLL/CLL. Patients with this variant of CLL/SLL have an unfavorable prognosis compared to those with somatic hypermutations of the IGH genes, with a median survival of approximately 6-8 years." "" + "obsolete pancreatic invasive intraductal papillary-mucinous carcinoma" "" "true" + "pancreatic intraductal papillary-mucinous neoplasm with an associated invasive carcinoma" "A pancreatic intraductal papillary mucinous neoplasm characterized by the presence of a focal or multifocal invasive carcinomatous component. The invasive carcinoma is either colloid or ductal adenocarcinoma." "" + "fibroosseous pseudotumor of the digits" "A non-neoplastic soft tissue disorder characterized by the localized formation of reactive fibrous and bone tissues. It usually occurs in the subcutaneous tissue of the proximal phalanx. Less frequently, it involves the toe. It presents with swelling and pain of the affected area. The prognosis is excellent. However, incomplete excision may lead to the re-growth of the lesion." "" + "thyroid gland oncocytic adenoma" "A thyroid gland adenoma composed of large cells with abundant granular eosinophilic cytoplasm and large nuclei with prominent nucleoli." "" + "gallbladder melanoma" "A melanoma that arises from the gallbladder." "" + "familial melanoma" "Familial melanoma (FM) is a rare inherited form of melanoma characterized by development of histologically confirmed melanoma in two first degrees relatives or more relatives in an affected family." "" + "gallbladder neuroendocrine neoplasm" "A neoplasm with neuroendocrine differentiation that arises from the gallbladder. It includes well differentiated neuroendocrine tumors (low and intermediate grade) and poorly differentiated neuroendocrine carcinomas (high grade)." "" + "interstitial myocarditis" "Inflammation of the heart characterized by infiltration of the interstitial tissues by inflammatory cells, histiocytes, and the formation of granulomas. Giant cells are often present." "" + "mediastinitis" "An inflammatory process affecting the mediastinum." "" + "endocervical type cervical adenomyoma" "An adenomyoma that arises from the cervix and is characterized by the presence of endocervical mucinous glands and a smooth muscle cell component. There is no atypia or significant mitotic activity present." "" + "endometrial type cervical adenomyoma" "An adenomyoma that arises from the cervix and is characterized by the presence of endometrial type glands and endometrial stroma, surrounded by smooth muscle. There is no evidence of atypia." "" + "cervical atypical polypoid adenomyoma" "An adenomyoma that arises from the cervix and is characterized by the presence of a glandular component exhibiting architectural complexity." "" + "fallopian tube gestational choriocarcinoma" "A malignant trophoblastic tumor that arises from the fallopian tube during pregnancy." "" + "gestational uterine corpus choriocarcinoma" "A gestational choriocarcinoma that involves the body of uterus." "" + "uterine corpus choriocarcinoma" "An aggressive malignant tumor arising from trophoblastic cells in the uterus during pregnancy. Approximately half of the cases develop from a complete hydatidiform mole. There is often marked elevation of human chorionic gonadotropin (hCG) in the blood. Choriocarcinomas disseminate rapidly through the hematogenous route; the lungs are most frequently affected." "" + "malignant germ cell tumor of corpus uteri" "A malignant germ cell tumor that involves the body of uterus." "" + "mediastinal disorder" "A non-neoplastic or neoplastic disorder that affects the structures of the mediastinum. Representative examples include mediastinitis, mediastinal lipoma, mediastinal schwannoma, thymoma, and mediastinal lymphoma." "" + "testicular yolk sac tumor, papillary pattern" "A yolk sac tumor that arises from the testis and is characterized by the presence of numerous papillary structures that are lined by cells with prominent nucleoli." "" + "testicular yolk sac tumor, hepatoid pattern" "A yolk sac tumor that arises from the testis and is characterized by the presence of hepatoid cells collections." "" + "myotonic cataract" "A cataract occurring as a sequela of myotonic dystrophy." "" + "myotonic dystrophy" "An inherited progressive disorder affecting the muscles. It is characterized by muscle wasting and hypotonia, cataracts, heart conduction defects and endocrinopathies." "" + "syndromic cataract" "A cataract (disease) that is part of a larger syndrome." "" + "inflammation of heart layer" "An inflammatory disease involving a pathogenic inflammatory response in the heart layer." "" + "myocardial disorder" "A disorder that affects the muscle tissue of the heart. Representative examples include myocardial infarction, myocarditis, and cardiomyopathy." "" + "sacral spinal canal and spinal cord meningioma" "A meningioma that arises from the meninges of the sacral region of the spinal cord." "" + "lung hilum carcinoma" "A lung carcinoma arising from the hilum of the lung." "" + "lung superior sulcus carcinoma" "A carcinoma originating from the apical lung. Most superior sulcus lung carcinomas are bronchogenic carcinomas. This carcinoma may be associated with Pancoast syndrome. lt is also known as Pancoast tumor." "" + "malignant superior sulcus neoplasm" "A malignant neoplasm originating from the apical lung. Most malignant superior sulcus neoplasms are bronchogenic carcinomas. This tumor may be associated with Pancoast syndrome. It is also known as Pancoast tumor." "" + "fallopian tube cystadenofibroma" "A rare, benign, asymptomatic neoplasm that arises from the fallopian tube. The tumors are round and solitary and contain connective tissue and cystic structures lined by serous-type epithelium. The majority of cases are incidental findings during operation for an unrelated gynecologic disorder." "" + "parapharyngeal meningioma" "" + "upper clivus meningioma" "A meningioma that affects the upper clivus." "" + "penile urethral cancer" "A urethra cancer that involves the penis." "" + "central breast papilloma" "A benign papillary neoplasm that arises in a large duct of the breast. It is characterized by the presence of a fibrovascular core that is lined by benign epithelial and myoepithelial proliferations. Patients usually present with nipple discharge." "" + "microscopic breast papilloma" "A benign papillary neoplasm that arises in a terminal ductal lobular unit. It is characterized by the presence of a fibrovascular core that is lined by benign epithelial and myoepithelial proliferations. Peripheral breast papillomas are often multiple and are usually found microscopically. Patients are often asymptomatic." "" + "atypical breast papilloma" "An intraductal papilloma of the breast characterized by the presence of focal epithelial atypia." "" + "intrahepatic biliary papillomatosis" "A non-invasive, papillary epithelial neoplasm that arises from the epithelium of the intrahepatic bile ducts." "" + "inflammatory liposarcoma" "A rare morphologic variant of well differentiated liposarcoma occurring most often in the retroperitoneum. It is characterized by the presence of a predominant inflammatory infiltrate composed of lymphoplasmacytic aggregates." "" + "lower clivus meningioma" "A meningioma that affects the lower clivus." "" + "meningeal melanomatosis" "A meningeal melanoma with secondary diffuse meningeal spread. (WHO)" "" + "adult pleomorphic rhabdomyosarcoma" "An aggressive rhabdomyosarcoma occurring in adults. The neoplasm is characterized by the presence of bizarre round, spindle, and polygonal cells. Clinical presentation includes a rapidly enlarging painful mass usually in the lower extremities." "" + "chronic rhinitis" "Chronic inflammation of the nasal cavity mucosa. It may lead to post-nasal drip resulting in chronic sore throat and chronic cough." "" + "obsolete olfactory neural tumor" "" "true" + "bulbomembranous urethral cancer" "" + "ureter tuberculosis" "A tuberculosis that involves the ureter." "" + "anterior urethra cancer" "A malignant neoplasm that affects the portion of the urethra that is close to the outside of the body." "" + "synovial angioma" "A rare hemangioma arising from synovium lining surfaces." "" + "intratubular embryonal carcinoma" "Stage 0 includes: pTis, N0, M0, S0. pTis: Intratubular germ cell neoplasia (carcinoma in situ). N0: regional lymph node metastasis. M0: No distant metastasis. S0: Marker study levels within normal limits. (AJCC 6th and 7th eds.)" "" + "adult epithelioid sarcoma" "An epithelioid sarcoma occurring in adults." "" + "clear cell squamous cell skin carcinoma" "A squamous cell carcinoma of the skin with a prominent clear cell component." "" + "thyroid gland atypical follicular adenoma" "A thyroid gland adenoma with increased cellularity and nuclear atypia. There is no capsular or vascular invasion. The clinical course is benign." "" + "corpus uteri neoplasm" "A neoplasm (disease) that involves the body of uterus." "" + "congenital granular cell tumor" "An instance of granular cell tumor that is present from birth." "" + "lymph node palisaded myofibroblastoma" "A myofibroblastoma arising from the inguinal lymph nodes. It is characterized by the presence of nuclear palisading." "" + "non-ossifying fibromyxoid tumor" "A rare soft tissue tumor of uncertain lineage characterized by the presence of neoplastic spindle to round cells forming cords in a fibromyxoid stroma. Metaplastic bone formation is not present." "" + "fibromyxoid tumor" "A soft tissue tumor of uncertain lineage characterized by the presence of neoplastic spindle-shaped to round cells in a fibromyxoid stroma. Metaplastic bone formation may or may not be present." "" + "ossifying fibromyxoid tumor" "A rare soft tissue tumor of uncertain lineage characterized by the presence of neoplastic spindle to round cells forming cords in a fibromyxoid stroma. The lesions are associated with the formation of metaplastic bone. Most patients present with painless subcutaneous masses. Recurrences have been reported in a minority of patients." "" + "early invasive cervical adenocarcinoma" "A cervical adenocarcinoma with minimal stromal invasion. The risk of local lymph node metastasis is insignificant and the prognosis is excellent." "" + "sclerosing adenosis of breast" "Breast adenosis characterized by the proliferation of acini, a lobulated architectural pattern, and stromal sclerosis. The luminal epithelial and myopepithelial cells are preserved. Microcalcifications and foci of apocrine metaplasia may be present." "" + "perineural angioma" "A hemangioma arising from perineural tissues." "" + "microglandular adenosis of breast" "A rare variant of breast adenosis characterized by the proliferation of small round glands in a collagenous stroma. The epithelial cells are cuboidal and there are no myopepithelial cells present. There is no evidence of atypia." "" + "childhood choriocarcinoma of the ovary" "A non-gestational choriocarcinoma that arises from the ovary and occurs in children." "" + "obsolete villoglandular variant cervical mucinous adenocarcinoma" "" "true" + "intestinal variant cervical mucinous adenocarcinoma" "A cervical mucinous adenocarcinoma that resembles the large intestinal adenocarcinoma." "" + "intestinal type adenocarcinoma" "An adenocarcinoma arising from epithelium which has undergone intestinal metaplasia. Representative examples include gastric, gallbladder, and ampulla of Vater intestinal type adenocarcinomas." "" + "endocervical type cervical mucinous adenocarcinoma" "A cervical mucinous adenocarcinoma characterized by the presence of malignant glandular cells that resemble those of the endocervix." "" + "epithelioid malignant peripheral nerve sheath tumor" "A rare variant of malignant peripheral nerve sheath tumor composed predominantly or exclusively of epithelioid cells." "" + "pseudoglandular variant testicular seminoma" "A morphologic variant of testicular seminoma characterized by the presence of seminoma cells arranged in pseudoglandular patterns and few lymphocytes." "" + "cervical adenosquamous carcinoma, glassy cell variant" "A poorly differentiated variant of adenosquamous carcinoma that arises from the cervix. It is characterized by the presence of large malignant cells with ground glass cytoplasm and stromal eosinophilic infiltrates." "" + "cervical adenosquamous carcinoma" "An uncommon carcinoma arising from the cervix. It is composed of malignant glandular epithelial cells and malignant squamous epithelial cells." "" + "enteric pattern testicular yolk sac tumor" "A yolk sac tumor that arises from the testis and is characterized by the presence of immature glands." "" + "chordoid meningioma" "A WHO grade II, usually recurring meningioma characterized by the predominance of tissues that are histologically similar to chordoma." "" + "grade II meningioma" "An atypical meningioma which may recur in approximately 29-40% of the cases. This category includes the atypical meningioma, chordoid meningioma, and clear cell meningioma." "" + "adult malignant schwannoma" "A malignant peripheral nerve sheath tumor occurring during adulthood." "" + "lumbar plexus neoplasm" "A neoplasm (disease) that involves the lumbar nerve plexus." "" + "reticular pattern testicular yolk sac tumor" "A yolk sac tumor that arises from the testis and is characterized by the presence of a meshwork of small vacuolated cells resulting in a honeycomb appearance." "" + "adult type testicular granulosa cell tumor" "A rare sex cord-stromal tumor that arises from the testis in adults. Gynecomastia is present in approximately a quarter of the patients. Several morphologic patterns have been identified and include insular, gyriform, trabecular, pseudosarcomatous, and solid. Metastases occur in approximately twenty percent of the cases." "" + "cork-handlers' disease" "An extrinsic allergic alveolitis caused by inhalation of cork dust containing the antigens produced by the fungus Penicillium glabrum. The symptoms include dyspnea, wheezing cough, fever and asthenia." "" + "malignant cornea melanoma" "A melanoma within the cornea of the eye." "" + "Meckel diverticulitis" "Inflammation of a congenital diverticulum of the lower intestine." "" + "enteritis" "Inflammation of the small intestine." "" + "microinvasive cervical squamous cell carcinoma" "A cervical squamous cell carcinoma with minimal stromal invasion. The risk of lymph node metastasis is low." "" + "childhood kidney angiomyolipoma" "An angiomyolipoma occurring in childhood." "" + "kidney angiomyolipoma" "An angiomyolipoma arising from the kidney." "" + "carcinoma arising in nasal papillomatosis" "A rare squamous cell carcinoma that either arises from or is associated with the presence of inverted papilloma in the nose." "" + "congenital fibrosarcoma" "A fibrosarcoma that occurs in infants. It shares identical morphologic features with adult fibrosarcoma but carries the t(12;15)(p13;q25) translocation that results in ETV6-NTRK3 gene fusion. It usually affects the superficial and deep soft tissues of the extremities. The prognosis is generally much more favorable than for adult fibrosarcoma, and it rarely metastasizes." "" + "thyroid gland macrofollicular adenoma" "A thyroid gland adenoma composed of large size follicles." "" + "malignant glandular tumor of peripheral nerve sheath" "A variant of malignant peripheral nerve sheath tumor characterized by the presence of glandular epithelium." "" + "follicular infundibulum tumor" "" + "retinal melanoma" "A melanoma affecting the retinal portion of the eye. --2003" "" + "breast apocrine carcinoma in situ" "A ductal breast carcinoma in situ, characterized by the presence of neoplastic epithelial cells with apocrine differentiation." "" + "physiological polycythemia" "Polycythemia that is not pathologic." "" + "thyroid malformation" "An anatomic abnormality of the thyroid gland." "" + "paralytic ileus" "An ileus caused by abdominal or pelvic surgery, infections, disorders that affect the muscles and nerves, and medications. Signs and symptoms include those of intestinal obstruction." "" + "brachial plexus neuropathy from injury" "" + "injury" "Damage inflicted on the body as the direct or indirect result of an external force, with or without disruption of structural continuity." "" + "intestinal volvulus" "Twisting of a loop of bowel that results in intestinal obstruction." "" + "intestinal impaction" "" + "cyclothymic disorder" "An affective disorder characterized by periods of depression and hypomania. These may be separated by periods of normal mood." "" + "ariboflavinosis" "A dietary deficiency of riboflavin causing a syndrome chiefly marked by cheilitis, angular stomatitis, glossitis associated with a purplish red or magenta-colored tongue that may show fissures, corneal vascularization, dyssebacia, and anemia. (Dorland, 27th ed)" "" + "pyridoxine deficiency anemia" "Deficiency of vitamin B6. It is usually caused by alcoholism, malabsorption, or as a side effect of medications. Signs and symptoms include stomatitis, glossitis, dermatitis, peripheral neuropathy, irritability, seizures, and anemia." "" + "vitamin B deficiency" "A condition due to deficiency in any member of the vitamin B complex. These B vitamins are water-soluble and must be obtained from the diet because they are easily lost in the urine. Unlike the lipid-soluble vitamins, they cannot be stored in the body fat." "" + "choline deficiency disease" "A condition produced by a deficiency of choline in animals. Choline is known as a lipotropic agent because it has been shown to promote the transport of excess fat from the liver under certain conditions in laboratory animals. Combined deficiency of choline (included in the B vitamin complex) and all other methyl group donors causes liver cirrhosis in some animals. Unlike compounds normally considered as vitamins, choline does not serve as a cofactor in enzymatic reactions. (From Saunders Dictionary & Encyclopedia of Laboratory Medicine and Technology, 1984)" "" + "obsolete pellagra" "" "true" + "flat retinoschisis" "" + "obsolete localized scleroderma" "" "true" + "rheumatic myocarditis" "Inflammation of the myocardium in acute rheumatic heart disease." "" + "rheumatoid arthritis" "A chronic, systemic autoimmune disorder characterized by inflammation in the synovial membranes and articular surfaces. It manifests primarily as a symmetric, erosive polyarthritis that spares the axial skeleton and is typically associated with the presence in the serum of rheumatoid factor." "" + "autoimmune myocarditis" "Autoimmune myocarditis is an autoimmune disease that affects the heart. The condition is characterized by inflammation of the heart muscle (myocardium). Some people with autoimmune myocarditis have no noticeable symptoms of the condition. When present, signs and symptoms may include chest pain, abnormal heartbeat, shortness of breath, fatigue, signs of infection (i.e. fever, headache, sore throat, diarrhea), and leg swelling. The exact underlying cause of the condition is currently unknown; however, autoimmune conditions, in general, occur when the immune system mistakenly attacks healthy tissue. Treatment is based on the signs and symptoms present in each person. In some cases, medications that suppress the immune system may be recommended." "" + "transient retinal arterial occlusion" "A partial, temporary occlusion of the retinal artery." "" + "maple bark strippers' lung" "" + "hypersensitivity pneumonitis" "Hypersensitivity pneumonitis (HP) is a pulmonary disease with symptoms of dyspnea and cough resulting from the inhalation of an antigen to which the subject has been previously sensitized." "" + "polyhydramnios" "An excess quantity of amniotic fluid in the amniotic sac as compared to normal values. Typically associated with an amniotic fluid index (AFI) of greater than or equal to 25 cm or a single maximum vertical pocket (MVP) of greater than 8 cm." "" + "placenta disorder" "A disease involving the placenta." "" + "rheumatoid lung disease" "Rheumatoid lung disease is a group of lung problems related to rheumatoid arthritis." "" + "hereditary night blindness" "An instance of night blindness that is caused by an inherited modification of the individual's genome." "" + "obsolete hereditary retinal dystrophy" "" "true" + "obsolete fundus dystrophy" "" "true" + "impetigo herpetiformis" "An impetigo that is characterized as a form of severe pustular psoriasis occurring in pregnancy." "" + "staphylococcus aureus infection" "An infectious process in which the bacteria Staphylococcus aureus is present." "" + "Bartholin duct cyst" "Distension of the Bartholin gland duct caused by an accumulation of mucus in the duct, usually as a result of obstruction of the gland duct orifice." "" + "puerperal pulmonary embolism" "" + "pulmonary embolism" "The obstruction of the pulmonary artery or one of its branches by an embolus, sometimes associated with infarction of the lung." "" + "acute pulmonary heart disease" "" + "pulmonary embolism and infarction" "Localized necrosis of lung tissue caused by obstruction of the arterial blood supply, most often due to pulmonary embolism." "" + "acute cor pulmonale" "Acute form of cor pulmonale." "" + "barbiturate abuse" "A substance abuse that involves the recurring use of barbiturate drugs despite negative consequences." "" + "monocytic leukemia" "" + "ulcer of lower limbs" "Ulcer of lower limbs is a chronic ulcer of skin where the ulcer is not a decubitus ulcer." "" + "chronic ulcer of skin" "" + "obsolete polymyalgia rheumatica" "" "true" + "collagenopathy" "" + "Hodgkin's lymphoma, lymphocytic-histiocytic predominance" "A subtype of classical Hodgkin lymphoma with scattered Hodgkin and Reed-Sternberg cells and a nodular or less often diffuse cellular background consisting of small lymphocytes and with an absence of neutrophils and eosinophils. (WHO, 2008)" "" + "classic Hodgkin lymphoma" "Classical Hodgkin lymphoma (CHL) is a B-cell lymphoma characterized histologically by the presence of large mononuclear Hodgkin cells and multinucleated Reed-Sternberg (HRS) cells." "" + "obsolete pyoderma gangrenosum" "" "true" + "vallecula cancer" "A cancer involving a epiglottic vallecula." "" + "oropharynx cancer" "A primary or metastatic malignant neoplasm that affects the oropharynx." "" + "neoplasm of oropharynx" "A neoplasm (disease) that involves the oropharynx." "" + "herpes simplex infectious disease" "A group of acute infections caused by herpes simplex virus type 1 or type 2 that is characterized by the development of one or more small fluid-filled vesicles with a raised erythematous base on the skin or mucous membrane. It occurs as a primary infection or recurs due to a reactivation of a latent infection. (Dorland, 27th ed.)" "" + "obsolete multiple carboxylase deficiency" "" "true" + "soft palate cancer" "A primary or metastatic malignant neoplasm that affects the soft palate." "" + "palatal neoplasm" "A benign or malignant neoplasm that affects the hard palate, soft palate, or uvula." "" + "oral cavity cancer" "A primary or metastatic malignant neoplasm involving the oral cavity. The majority are squamous cell carcinomas." "" + "malignant histiocytosis" "Distinctive neoplastic disorders of histiocytes. Included are malignant neoplasms of macrophages and dendritic cells." "" + "acute intestinal ischemia" "Ischemia of the intestine that is rapid in onset." "" + "ischemic bowel disorder" "Disease of the large or small intestine that is caused by inadequate blood supply." "" + "chronic monocytic leukemia" "Form of leukemia characterized by an uncontrolled proliferation of the myeloid lineage and their precursors (myeloid progenitor cells) in the bone marrow and other sites." "" + "upper gum cancer" "A cancer involving a gingiva of upper jaw." "" + "gingival cancer" "A primary or metastatic malignant neoplasm that affects the gums." "" + "herpetic whitlow" "A painful blister of the periungual skin that is caused by herpes simplex virus type 1 or 2." "" + "paronychia" "An acute or chronic infection of the soft tissues around the nail. Symptoms include pain, tenderness, erythema, and swelling around the nail. Acute infection results from minor trauma to the fingertip and Staphylococcus aureus is usually the causative agent. Chronic infection is usually caused by Candida albicans." "" + "recurrent hypersomnia" "Disorders characterized by hypersomnolence during normal waking hours that may impair cognitive functioning. Subtypes include primary hypersomnia disorders (e.g., idiopathic hypersomnolence; narcolepsy; and kleine-levin syndrome) and secondary hypersomnia disorders where excessive somnolence can be attributed to a known cause (e.g., drug affect, mental disorders, and sleep apnea syndrome). (From J Neurol Sci 1998 Jan 8;153(2):192-202; Thorpy, Principles and Practice of Sleep Medicine, 2nd ed, p320)" "" + "diplegia of upper limb" "" + "measles" "A highly contagious viral infection caused by the measles virus. Symptoms appear 8-12 days after exposure and include a rash, cough, fever and muscle pains that can last 4-7 days. Measles vaccines are available to provide prophylaxis, usually combined with mumps and rubella vaccines (MMR)." "" + "morbillivirus infectious disease" "Infections with viruses of the genus morbillivirus, family paramyxoviridae. Infections mainly cause acute disease in their hosts, although in some cases infection is persistent and leads to degenerative conditions." "" + "Hodgkin's lymphoma, lymphocytic depletion" "A diffuse subtype of classical Hodgkin lymphoma which is rich in Hodgkin and Reed-Sternberg cells and/or depleted in non-neoplastic lymphocytes. (WHO, 2008)" "" + "upper lip cancer" "A malignant neoplasm involving the upper lip." "" + "lip cancer" "A primary or metastatic malignant neoplasm involving the lip." "" + "chronic intestinal vascular insufficiency" "" + "obsolete prostate carcinoma in situ" "" "true" + "uvula cancer" "A malignant neoplasm involving the palatine uvula." "" + "obsolete Hodgkin's paragranuloma" "" "true" + "gastroduodenitis" "" + "hemorrhagic duodenitis" "" + "subacute delirium" "" + "delirium" "A disorder characterized by confusion; inattentiveness; disorientation; illusions; hallucinations; agitation; and in some instances autonomic nervous system overactivity. It may result from toxic/metabolic conditions or structural brain lesions. (From Adams et al., Principles of Neurology, 6th ed, pp411-2)" "" + "tongue neoplasm" "A neoplasm (disease) that involves the tongue." "" + "obsolete Hodgkin's granuloma" "An obsolete term referring to Hodgkin lymphoma." "" "true" + "Hodgkins lymphoma" "Hodgkin lymphoma (HL) is a heterogeneous group of malignant lymphoid neoplasms of B-cell origin characterized histologically by the presence of Hodgkin and Reed-Sternberg (HRS) cells in the vast majority of cases. There are two distinct subtypes: nodular lymphocyte predominant Hodgkin lymphoma and classical Hodgkin lymphoma. Hodgkin lymphoma involves primarily lymph nodes." "" + "Hodgkin's lymphoma, mixed cellularity" "A subtype of classical Hodgkin lymphoma with scattered Reed-Sternberg and Hodgkin cells in a diffuse or vaguely nodular mixed inflammatory background without nodular sclerosing fibrosis. (WHO, 2008)" "" + "postcricoid region cancer" "A primary or metastatic malignant neoplasm that affects the postcricoid region." "" + "hypopharynx cancer" "A primary or metastatic malignant neoplasm that affects the hypopharynx." "" + "lip carcinoma in situ" "A in situ carcinoma that involves the lip." "" + "carcinoma of lip" "A carcinoma that involves the lip." "" + "aryepiglottic fold cancer" "A malignant neoplasm involving the aryepiglottic fold." "" + "lymphosarcoma" "An antiquated term that refers to a non-Hodgkin lymphoma composed of small and medium sized lymphocytes." "" + "perinatal necrotizing enterocolitis" "A fulminating disease of neonates in which there is extensive mucosal ulceration, pseudomembrane formation, submucosal hemorrhage, and necrosis usually of the right colon, cecum, terminal ileum, and appendix, possibly due to perinatal intestinal ischemia and bacterial invasion. Progression can lead to necrosis, perforation and/or scarring of the intestinal tract." "" + "necrotizing enterocolitis" "Necrotizing enterocolitis (NEC) is a devastating disease that affects mostly the intestine of premature infants. The wall of the intestine is invaded by bacteria, which cause local infection and inflammation that can ultimately destroy the wall of the bowel (intestine). Such bowel wall destruction can lead to perforation of the intestine and spillage of stool into the infant's abdomen, which can result in an overwhelming infection and death." "" + "alcoholic gastritis" "Inflammation of the stomach resulting from alcohol ingestion." "" + "skin carcinoma in situ" "A in situ carcinoma that involves the zone of skin." "" + "tonsillar pillar cancer" "A cancer that involves the tonsillar pillar." "" + "myeloid leukemia" "A clonal proliferation of myeloid cells and their precursors in the bone marrow, peripheral blood, and spleen. When the proliferating cells are immature myeloid cells and myeloblasts, it is called acute myeloid leukemia. When the proliferating myeloid cells are neutrophils, it is called chronic myelogenous leukemia." "" + "myeloproliferative neoplasm" "A clonal hematopoietic stem cell disorder, characterized by proliferation in the bone marrow of one or more of the myeloid (i.e., granulocytic, erythroid, megakaryocytic, and mast cell) lineages. It is primarily a neoplasm of adults. (WHO 2008)" "" + "subacute monocytic leukemia" "" + "cheek mucosa cancer" "A malignant neoplasm involving the buccal mucosa." "" + "buccal mucosa neoplasm" "A neoplasm (disease) that involves the buccal mucosa." "" + "decubitus ulcer" "Death of tissue due to external pressure." "" + "high grade malignant neoplasm" "" + "tumor grade 3, general grading system" "A morphologic qualifier indicating that a cancerous lesion is poorly differentiated." "" + "vascular dementia" "A degenerative vascular disorder affecting the brain. It is caused by the blockage of the blood supply to the brain. It is manifested with decline of memory and cognitive functions." "" + "anaerobic pneumonia" "A pneumonia caused by anaerobic bacteria." "" + "bacterial pneumonia" "Acute infection of the lung parenchyma caused by bacteria (e.g., Streptococcus pneumoniae, Haemophilus influenzae, Chlamydia pneumoniae, Mycoplasma pneumoniae, and Legionella pneumophila). Signs and symptoms include productive cough, fever, chills, shortness of breath, and chest pain." "" + "malignant carotid body paraganglioma" "A carotid body paraganglioma that metastasizes to other anatomic sites." "" + "carotid body paraganglioma" "A benign or malignant extra-adrenal parasympathetic paraganglioma arising from paraganglia adjacent to or in the bifurcation of the common carotid artery. Most patients present with a slow growing, painless mass in the neck." "" + "atypical chronic myeloid leukemia, BCR-ABL1 negative" "A myelodysplastic/myeloproliferative neoplasm characterized by the principal involvement of the neutrophil series with leukocytosis and multilineage dysplasia. The neoplastic cells do not have a Philadelphia chromosome or the BCR/ABL fusion gene. (WHO, 2001)" "" + "myelodysplastic/myeloproliferative Neoplasm" "A category of clonal hematopoietic disorders that have both myelodysplastic and myeloproliferative features at the time of initial presentation." "" + "obsolete pyomyositis" "" "true" + "obsolete acute megakaryoblastic leukemia" "" "true" + "rubella" "A viral infection caused by the rubella virus. It is initially manifested with flu-like symptoms that last one or two days, followed by the development of a characteristic red rash which lasts from one to five days. The rash first appears in the neck and face. It subsequently spreads to the rest of the body." "" + "disseminated chorioretinitis" "" + "eye carcinoma in situ" "A carcinoma in situ involving a eye." "" + "trachea carcinoma in situ" "A carcinoma that arises from the tracheal mucosa and is confined to the epithelial layer without evidence of further tissue invasion." "" + "squamous carcinoma in situ" "A malignant epithelial neoplasm confined to the squamous epithelium, without invasion of the underlying tissues." "" + "heterophyiasis" "An infection that is caused by the intestinal fluke Heterophyes heterophyes, which is most commonly found in Asia, the Middle East, and Africa, and which is transmitted via consumption of contaminated raw or undercooked fish. Symptoms typically range from asymptomatic to intermittent abdominal pain and diarrhea, with occasional ectopic infection." "" + "colon carcinoma in situ" "A in situ carcinoma that involves the colon." "" + "intestine carcinoma in situ" "A carcinoma in situ involving a intestine." "" + "nodular sclerosis classical Hodgkin lymphoma" "A subtype of classical Hodgkin lymphoma characterized by collagen bands that surround at least one nodule, and Hodgkin and Reed-Sternberg cells with lacunar type morphology. (WHO, 2008)" "" + "metagonimiasis" "An infection that is most commonly caused by the intestinal fluke Metagonimus yokogawai, which is most commonly found in the Far East, and which is transmitted via consumption of contaminated raw or undercooked fish. Symptoms typically range from asymptomatic to intermittent abdominal pain and diarrhea, with occasional ectopic infection." "" + "sublingual gland cancer" "A rare malignant neoplasm that arises from the sublingual gland. The majority are carcinomas." "" + "sublingual gland neoplasm" "A neoplasm (disease) that involves the sublingual gland." "" + "major salivary gland cancer" "A primary or metastatic malignant neoplasm affecting the major salivary glands. Representative examples include carcinoma, lymphoma, and sarcoma." "" + "fascioliasis" "A parasitic infection that is caused by liver flukes, usually Fasciola hepatica, of sheep, goats, and cattle. Humans become infected by eating uncooked, infested aquatic vegetation (classically watercress). adult flukes inhabit the bile ducts, gallbladder, and occasionally ectopic sites. Symptoms arise secondary to inflammatory response or obstruction." "" + "tumor of salivary gland" "A neoplasm (disease) that involves the saliva-secreting gland." "" + "lupus erythematosus" "An autoimmune, connective tissue chronic inflammatory disorder affecting the skin, joints, kidneys, lungs, heart, and the peripheral blood cells. It is more commonly seen in women than men. Variants include discoid and systemic lupus erythematosus." "" + "penis carcinoma in situ" "A in situ carcinoma that involves the penis." "" + "fasciolopsiasis" "A small bowel infection that is caused by Fasciolopsis buski, which is endemic in the Far East and Southeast Asia, and which is transmitted via the consumption of raw or undercooked aquatic plants. The spectrum of manifestations range from asymptomatic to intestinal symptoms from local invasion or allergic response." "" + "lower lip cancer" "A malignant neoplasm involving the lower lip." "" + "uveitis" "An inflammatory process affecting a part of or the entire uvea. Causes include inflammatory agents (e.g., herpes simplex, herpes zoster, leptospirosis) and systemic diseases (e.g., inflammatory bowel disease, multiple sclerosis, systemic lupus erythematosus, ankylosing spondylitis). Patients present with pain and redness in the eye, light sensitivity, and blurred and decreased vision." "" + "mitochondrial encephalomyopathy" "A heterogenous group of disorders characterized by alterations of mitochondrial metabolism that result in muscle and nervous system dysfunction. These are often multisystemic and vary considerably in age at onset (usually in the first or second decade of life), distribution of affected muscles, severity, and course. (From Adams et al., Principles of Neurology, 6th ed, pp984-5)" "" + "obsolete progressive myoclonus epilepsy" "" "true" + "tinea nigra" "A superficial mycosis that is a superficial fungal infection of the skin characterized by brown to black macules which usually occur on the palmar aspects of hands and occasionally the plantar and other surfaces of the skin, caused by Hortaea werneckii, which is a common saprophytic fungus believed to occur in soil, compost, humus and on wood in humid tropical and sub-tropical regions." "" + "leukoplakia of vagina" "Leukoplakia of the vagina." "" + "leukoplakia" "A white patch or plaque on a mucous membrane that cannot be characterized clinically or pathologically as any other disease. The diagnosis of leukoplakia is one of exclusion; other conditions such as candidiasis, lichen planus, leukoedema, etc., must be ruled out before a diagnosis of leukoplakia can be made. Leukoplakia may be a premalignant condition." "" + "primary thrombocytopenia" "" + "retromolar area cancer" "A malignant form of neoplasm of retromolar area." "" + "neoplasm of retromolar area" "" + "obsolete Evans' syndrome" "" "true" + "plantar fibromatosis" "A superficial fibromatosis arising from soft tissue of the plantar regions. It is characterized by the presence of spindle-shaped fibroblasts, hypercellularity, and an infiltrative growth pattern." "" + "superficial Fibromatosis" "A poorly circumscribed, intermediate fibrocytic neoplasm arising from the superficial soft tissues. It is characterized by the presence of spindle-shaped fibroblasts, and an infiltrative growth pattern." "" + "Waldeyer's ring cancer" "A malignant neoplasm involving the tonsillar ring." "" + "lattice corneal dystrophy" "" + "stromal corneal dystrophy" "The stromal corneal dystrophies refer to a group of rare genetically determined corneal dystrophies (CDs) characterized by lesions affecting the corneal stroma, and variable effects on vision depending on the type of dystrophy." "" + "severe nonproliferative diabetic retinopathy" "" + "obsolete sideroblastic anemia" "" "true" + "tonsillar fossa cancer" "A cancer involving a tonsillar fossa." "" + "autosomal dominant polycystic kidney disease" "Autosomal dominant form of polycystic kidney disease." "" + "polycystic kidney disease" "A usually autosomal dominant and less frequently autosomal recessive genetic disorder characterized by the presence of numerous cysts in the kidneys leading to end-stage renal failure. The autosomal dominant trait is associated with abnormalities on the short arm of chromosome 16. Symptoms in patients with the autosomal dominant trait usually appear at middle age and include abdominal pain, hematuria, and high blood pressure. Patients may develop brain aneurysms and liver cysts. Patients with the autosomal recessive trait present with progressive renal failure early in life and symptoms resulting from hepatic fibrosis. The autosomal recessive trait is associated with abnormalities of chromosome 6. Polycystic kidney disease may also result as a side effect in patients on renal dialysis." "" + "male infertility due to obstructive azoospermia of genetic origin" "True" + "obsolete choledochal cyst" "" "true" + "hepatopulmonary syndrome" "Hepatopulmonary syndrome (HPS) is a lung disease characterized by widening of arteries and veins (dilatation) in the lungs in people who have chronic liver disease. Because of the dilated vases, the workload of the heart increases and the blood pumped to the body does not have enough oxygen, leading to a decreased level of oxygen in the blood (hypoxemia). The normal diameter of the lung vessels ranges between 8 and 15 μm whereas when in HPS rises to between 15 and 500 μm. While many people with HPS don't have any obvious problems, the main reported symptom is shortness of breath (dyspnea) that is worse when standing or sitting up, and is relieved when lying down (platypnea). Symptoms related to chronic liver disease (generally cirrhosis) include small red spots on the skin (spider angiomas) and abnormal vascular dilatations. Some other symptoms that have been described are infections in the brain (brain abscesses), brain bleeding and an increased number of red blood cells in the blood (polycythemia). There is currently no effective medication for HPS. Oxygen therapy may improve the breathing in some cases. Liver transplant is an efficient treatment which improves the symptoms, even in severe cases." "" + "liver lymphoma" "A rare lymphoma that arises from the liver and the bulk of the tumor is located in the liver. The most frequent types of lymphoma that arise from the liver are diffuse large B-cell lymphoma and mucosa-associated lymphoid tissue lymphoma." "" + "larynx carcinoma in situ" "A in situ carcinoma that involves the larynx." "" + "esophageal leukoplakia" "A rare condition that usually affects the middle-to-distal esophagus in middle-aged and elderly people. There is usually a history of tobacco smoking or alcohol intake. Dysphagia is the presenting symptom. Morphologically, the lesions are well-demarcated and are characterized by epithelial hyperplasia, thickened basal layer, prominent granular cell layer, and hyperorthokeratosis. In a minority of patients this condition is associated with adjacent high-grade squamous dysplasia and/or squamous cell carcinoma." "" + "parotid gland cancer" "A primary or metastatic malignant neoplasm involving the parotid gland. Representative examples include carcinoma, malignant mixed tumor, and non-Hodgkin lymphoma." "" + "parotid gland neoplasm" "A neoplasm (disease) that involves the parotid gland." "" + "uterine cervix leukoplakia" "The presence of whitish patches on the mucosal surface of the cervix. Histologic examination reveals hyperkeratosis. In a minority of cases, underlying dysplasia or carcinoma in situ is present." "" + "bladder carcinoma in situ" "Also known as carcinoma in situ of the urinary bladder or high grade intraurothelial neoplasia, this is a flat lesion of the transitional cell epithelium characterized by severe cytologic atypia. This lesion is confined to the urothelium, and is a precursor of invasive transitional cell carcinoma of the bladder. Stage 0is includes: Tis, N0, M0. Tis: Carcinoma in situ: \"flat tumor\". N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)" "" + "bladder flat intraepithelial lesion" "A non-papillary neoplasm of the urinary bladder, whose classification categories include low-grade intraurothelial neoplasia and urothelial carcinoma in situ." "" + "obsolete peroxisomal disease" "" "true" + "liver solitary fibrous tumor" "A solitary fibrous tumor that arises from the liver. It affects females more frequently than males. Signs and symptoms include the presence of an abdominal mass and abdominal discomfort." "" + "solitary fibrous tumor" "Solitary fibrous tumor (SFT) represents a diverse group of ubiquitous rare spindle cell neoplasms that may be benign or malignant and that most frequently arises from the pleura and peritoneum and rarely from other sites such as head and neck, liver and skeletal muscle. SFT may be clinically asymptomatic or may present with enlarging mass, compressive effects depending on the site involved and rarely with paraneoplastic manifestations (osteoarthropathy or hypoglycemia)." "" + "discoid lupus erythematosus of eyelid" "" + "anal canal carcinoma in situ" "A carcinoma in situ involving a anal canal." "" + "rectum carcinoma in situ" "A in situ carcinoma that involves the rectum." "" + "esophagus carcinoma in situ" "Stage 0 includes: For squamous cell carcinoma: Tis (HGD), N0, M0, G1, GX, Tumor location: Any. For adenocarcinoma: Tis (HGD), N0, M0, G1, GX. Tis: High-grade dysplasia. N0: No regional lymph node metastasis. M0: No distant metastasis. G1: Well differentiated. GX: Grade cannot be assessed-stage grouping as G1. Tumor location: Location of the primary cancer site is defined by the position of the upper (proximal) edge of the tumor in the esophagus. (AJCC 7th ed.)" "" + "occipital lobe neoplasm" "A neoplasm involving a occipital lobe." "" + "obsolete amyloidosis" "" "true" + "herpes simplex dermatitis" "Localized rash characterized by grouped vesicles or pustules on an erythematous base that is caused by herpes simplex virus infection." "" + "lower gum cancer" "A cancer involving a gingiva of lower jaw." "" + "atrophic muscular disease" "A group of primary or secondary disorders affecting the muscles. It is characterized by an abnormal reduction in the muscle volume and atrophy. The atrophy may be caused by diseases of the muscle tissues or diseases of the peripheral nerves." "" + "carcinoma of liver and intrahepatic biliary tract" "A carcinoma that arises from the hepatocytes or intrahepatic bile ducts. The main subtypes are hepatocellular carcinoma (hepatoma) and cholangiocarcinoma." "" + "stomach carcinoma in situ" "A in situ carcinoma that involves the stomach." "" + "peliosis hepatis" "A vascular disease of the liver characterized by the occurrence of multiple blood-filled cysts or cavities. The cysts are lined with endothelial cells; the cavities lined with hepatic parenchymal cells (hepatocytes). Peliosis hepatis has been associated with use of anabolic steroids (anabolic agents) and certain drugs." "" + "xeroderma of eyelid" "" + "hard palate cancer" "A malignant neoplasm involving the hard palate." "" + "variola minor infection" "A orthopoxvirus that causes a milder clinical syndrome than smallpox." "" + "obsolete Wiskott-Aldrich syndrome" "" "true" + "submandibular gland cancer" "A malignant neoplasm involving the submandibular gland." "" + "major salivary gland carcinoma" "A carcinoma that arises from the parotid gland, submandibular gland, or sublingual gland." "" + "submandibular gland neoplasm" "A neoplasm (disease) that involves the submandibular gland." "" + "liver inflammatory myofibroblastic tumor" "A multinodular intermediate fibroblastic neoplasm arising from the liver. It is characterized by the presence of spindle-shaped fibroblasts and myofibroblasts, and a chronic inflammatory infiltrate composed of eosinophils, lymphocytes and plasma cells." "" + "inflammatory myofibroblastic tumor" "A multinodular intermediate fibroblastic neoplasm that arises from soft tissue or viscera, in children and young adults. It is characterized by the presence of spindle-shaped fibroblasts and myofibroblasts, and a chronic inflammatory infiltrate composed of eosinophils, lymphocytes, and plasma cells." "" + "vestibule of mouth cancer" "A cancer that involves the oral opening." "" + "diabetic macular edema" "" + "dyskinesia of esophagus" "Disorders affecting the motor function of the upper esophageal sphincter; lower esophageal sphincter; the esophagus body, or a combination of these parts. The failure of the sphincters to maintain a tonic pressure may result in gastric reflux of food and acid into the esophagus (gastroesophageal reflux). Other disorders include hypermotility (spastic disorders) and markedly increased amplitude in contraction (nutcracker esophagus)." "" + "central sleep apnea syndrome" "A broad classification of disorders which includes 6 subtypes (primary central sleep apnea, central sleep apnea due to Cheyne-Stokes breathing pattern, central sleep apnea due to medical condition not Cheyne-Stokes, central sleep apnea due to high-altitude periodic breathing, central sleep apnea due to drug or substance and primary sleep apnea of infancy) that are each characterized by interruptions in breathing while asleep. It is caused by improper signaling from the brainstem to respiratory muscles and is triggered by either hypoventilation or hyperventilation. In adults, this disorder may arise following a stroke, congestive heart failure, trauma, infection or the use of narcotic medications. It is more common in older males and may present as a co-morbid condition to obesity. Clinical signs include snoring, insomnia or hypersomnia, difficulty concentrating and fatigue. Recurrent episodes of hypoxia/hypoxemia have long-term detrimental effects on cardiovascular health." "" + "sleep apnea syndrome" "A disorder characterized by multiple cessations of respirations during sleep that induce partial arousals and interfere with the maintenance of sleep." "" + "kidney carcinoma in situ" "A carcinoma in situ involving a kidney." "" + "renal carcinoma" "A carcinoma arising from the epithelium of the renal parenchyma or the renal pelvis. The majority are renal cell carcinomas. Kidney carcinomas usually affect middle aged and elderly adults. Hematuria, abdominal pain, and a palpable mass are common symptoms." "" + "pyriform sinus cancer" "A primary or metastatic malignant neoplasm that affects the pyriform sinus." "" + "obsolete erythromelalgia" "" "true" + "obsolete Alagille syndrome" "" "true" + "amino acid metabolism disease" "A disease that has its basis in the disruption of cellular amino acid metabolic process." "" + "homocystinuria" "An autosomal recessive inherited metabolic disorder caused by mutations in the CBS, MTHFR, MTR, and MTRR genes. It is characterized by abnormalities in the methionine metabolism and is associated with deficiency of cystathionine synthase. It results in the accumulation of homocysteine in the serum. It may affect the cardiovascular, musculoskeletal and the central nervous systems." "" + "methylmalonic acidemia without homocystinuria" "Methylmalonic acidemia is an inborn error of vitamin B12 metabolism characterized by gastrointestinal and neurometabolic manifestations resulting from decreased function of the mitochondrial enzyme methylmalonyl-CoA mutase." "True" + "histidine metabolism disease" "A disease that has its basis in the disruption of histidine metabolic process." "" + "urea cycle disorder" "A genetic inborn error of metabolism characterized by the deficiency of one of the enzymes necessary for the urea cycle. It results in accumulation of ammonia in the body." "" + "obsolete hyperlysinemia" "" "true" + "tyrosinemia" "An autosomal recessive inherited metabolic disorder caused by mutations in the FAH, HPD, and TAT genes. It is characterized by deficiency of one of the enzymes that are involved in the metabolism of tyrosine. It results in elevated blood tyrosine levels and accumulation of tyrosine and its byproducts in the liver, kidney, nervous system and other organs." "" + "disorder of tyrosine metabolism" "" + "primary cerebellar degeneration" "A heterogenous group of degenerative syndromes marked by progressive cerebellar dysfunction either in isolation or combined with other neurologic manifestations. Sporadic and inherited subtypes occur. Inheritance patterns include autosomal dominant, autosomal recessive, and X-linked." "" + "cerebellar degeneration" "Degeneration of the cerebellum. It may be an inherited condition, a paraneoplastic syndrome, or secondary to autoimmune disorders." "" + "hyperhomocysteinemia" "A serious metabolic condition caused by mutations in the MTHFR gene, medications, or nutritional deficiency. It results in increased levels of homocysteine in the blood. Patients with this condition are at an increased risk for recurrent blood clots formation and cardiovascular accidents." "" + "priapism" "Persistent and usually painful erection that lasts for at least four hours in the absence of physical or psychological stimulation, which can be caused by hematologic disorders, including sickle cell disease and leukemia, spinal cord injuries, and medications." "" + "erectile dysfunction" "Persistent or recurrent inability to achieve or to maintain an erection during sexual activity." "" + "myopathy of extraocular muscle" "A myopathy that involves the extra-ocular muscle." "" + "cleft lip" "A congenital abnormality consisting of one or more clefts (splits) in the upper lip, which may be accompanied by a cleft palate; it is the result of the failure of the embryonic parts of the lip to fuse." "" + "myocardium cancer" "A malignant neoplasm involving the myocardium." "" + "neoplasm of myocardium" "A neoplasm (disease) that involves the myocardium." "" + "neurofibroma of the heart" "A rare neurofibroma that affects the heart." "" + "mechanical strabismus" "" + "rectal prolapse" "Protrusion of the rectum through the anus." "" + "monieziasis" "Infection of ruminants with tapeworms of the genus Moniezia." "" + "chronic ethmoidal sinusitis" "Inflammation of the ethmoid sinus that typically lasts beyond eight weeks. It is caused by infections, allergies, and the presence of sinus polyps or a deviated septum. Signs and symptoms include headache, nasal discharge, swelling in the face, dizziness, and breathing difficulties." "" + "ethmoid sinusitis" "An acute or chronic inflammatory process affecting the mucous membrane of the ethmoid sinus." "" + "scotoma" "A localized defect in the visual field bordered by an area of normal vision. This occurs with a variety of eye diseases (e.g., retinal diseases and glaucoma); optic nerve diseases, and other conditions." "" + "bestiality" "" + "urethral false passage" "" + "obsolete urethral diverticulum" "" "true" + "Taylor syndrome" "" + "carotid artery dissection" "Spontaneous or traumatic separation of the layers of the carotid artery wall. It manifests with headache, neck pain, temporary vision loss, and/or ischemic stroke." "" + "fibular collateral ligament bursitis" "" + "intrinsic asthma" "An asthma that is triggered by factors not related to allergies such as anxiety, stress, exercise, cold air, dry air, hyperventilation, smoke, viruses, chemical irritants, autonomic imbalance, hormonal deficiencies and psychogenic influences. It is characterized by airway obstruction and inflammation that is at least partially reversible with medication. The symptoms include coughing, wheezing, shortness of breath or rapid breathing, and chest tightness." "" + "allergic asthma" "A asthma with a basis in a pathological type I hypersensitivity reaction." "" + "status asthmaticus" "An acute exacerbation of asthma, characterized by inadequate response to initial bronchodilators." "" + "orbital plasma cell granuloma" "A nonspecific tumor-like inflammatory lesion in the orbit of the eye. It is usually composed of mature lymphocytes; plasma cells; macrophages; leukocytes with varying degrees of fibrosis. Orbital pseudotumors are often associated with inflammation of the extraocular muscles (orbital myositis) or inflammation of the lacrimal glands (dacryoadenitis)." "" + "exophthalmos" "The anterior displacement of the eye within the orbit, giving a bulging appearance." "" + "Fuchs' heterochromic uveitis" "A syndrome that is a chronic unilateral (or rarely bilateral) iridocyclitis appearing with the triad of heterochromia, predisposition to cataracts and glaucoma, and keratitic percipitates on the posterior corneal surface." "" + "glaucomatocyclitic crisis" "" + "iridocyclitis" "An inflammation of the iris and the ciliary body" "" + "anterior uveitis" "Inflammation of the iris and anterior chamber of the eye." "" + "iritis" "Inflammation of the iris." "" + "gonococcal iridocyclitis" "An iridocyclitis (disease) caused by infection with Neisseria gonorrhoeae." "" + "gonococcal endophthalmia" "" + "lens-induced iridocyclitis" "" + "obsolete infectious anterior uveitis" "" "true" + "epididymo-orchitis" "A disorder involving inflammation of the epididymis and testes." "" + "strictly posterior acute myocardial infarction" "" + "diabetes insipidus" "A disorder characterized by excretion of large amounts of urine, accompanied by excessive thirst. Causes include deficiency of antidiuretic hormone or failure of the kidneys to respond to antidiuretic hormone. It may also be drug-related." "" + "obsolete panhypopituitarism" "" "true" + "chronic cholangitis" "Cholangitis that is persistent and long-standing." "" + "cervical mullerian papilloma" "A rare, benign, papillary neoplasm that arises from the cervix. It is characterized by the presence of a fibrovascular core covered by mucinous epithelial cells." "" + "cervix squamous papilloma" "A papilloma that arises from the squamous epithelium of the cervix." "" + "non-neoplastic bile duct disorder" "A non-neoplastic disorder that affects the intrahepatic or extrahepatic bile ducts. Representative examples include cholangitis and biliary atresia." "" + "fatty liver disease" "A reversible condition wherein large vacuoles of triglyceride fat accumulate in liver cells via the process of steatosis." "" + "obsolete lipid storage disease" "" "true" + "cancer of isthmus of fallopian tube" "A cancer that involves the UBERON:0016632." "" + "obsolete uterine corpus cancer" "" "true" + "exposure keratitis" "" + "obsolete Sheehan syndrome" "" "true" + "ulcerative blepharitis" "" + "chronic dacryoadenitis" "Chronic form of dacryoadenitis." "" + "unilateral hypoactive labyrinth" "" + "pulmonary eosinophilia" "A condition characterized by infiltration of the lung with eosinophils due to inflammation or other disease processes. Major eosinophilic lung diseases are the eosinophilic pneumonias caused by infections, allergens, or toxic agents." "" + "hypereosinophilic syndrome" "Hypereosinophilic syndrome (HES) constitutes a rare and heterogeneous group of disorders, defined as persistent and marked blood eosinophilia and/or tissue eosinophilia associated with a wide range of clinical manifestations reflecting eosinophil-induced tissue/organ damage." "" + "disseminated eosinophilic collagen disease" "" + "chronic eosinophilic pneumonia" "Chronic inflammatory disorder of the lungs characterized by the presence of eosinophils in the interalveolar septa and alveolar spaces and peripheral blood eosinophilia. Chest x-rays reveal peripheral infiltrates. Approximately half of the patients have history of asthma or atopic disease. Signs and symptoms include fever, dyspnea, cough, and weight loss. Following treatment with corticosteroids, the eosinophilic infiltrates in the lungs disappear, resulting in dramatic clinical improvement." "" + "eosinophilic pneumonia" "An inflammatory lung disorder characterized by an increased number of eosinophils in the lungs. The majority of cases are idiopathic, without identifiable cause. In a minority of cases, medications, fungal infections, and environmental triggers have been implicated. It manifests as acute or chronic. Acute eosinophilic pneumonia is a severe and rapidly progressing pneumonia that may lead to respiratory failure requiring mechanical ventilation. Chronic eosinophilic pneumonia follows a slower course and manifests as fever, dyspnea, cough, and weight loss." "" + "obsolete Loeffler syndrome" "" "true" + "benign mammary dysplasia" "" + "obsolete cannabis abuse" "" "true" + "acute ethmoiditis" "Acute form of ethmoid sinusitis." "" + "simple chronic conjunctivitis" "" + "acute dacryoadenitis" "Acute form of dacryoadenitis." "" + "tuberculous pneumothorax" "A pneumothorax in which air enters into the pleural cavity." "" + "obsolete vascular skin disease" "" "true" + "osteosclerotic plasma cell myeloma" "A plasma cell neoplasm associated with osteosclerotic and fibrotic changes in the bone trabeculae. Often, the lymph nodes show changes resembling the plasma cell variant of Castleman disease. It is often part of POEMS syndrome which is characterized by polyneuropathy, organomegaly, endocrinopathy, monoclonal gammopathy, and skin changes." "" + "plasma cell myeloma" "A bone marrow-based plasma cell neoplasm characterized by a serum monoclonal protein and skeletal destruction with osteolytic lesions, pathological fractures, bone pain, hypercalcemia, and anemia. Clinical variants include non-secretory myeloma, smoldering myeloma, indolent myeloma, and plasma cell leukemia. (WHO, 2001)" "" + "refractory plasma cell neoplasm" "A plasma cell neoplasm that is resistant to treatment." "" + "non-secretory plasma cell myeloma" "A rare type of multiple myeloma in which the plasma cells synthesize but do not secrete immunoglobulins. As a result, none of the immunoglobulins appear out of the normal range. The symptoms are generally the same with those of immunoglobulin-secreting myeloma; however, the incidence of renal insufficiency is lower in non-secretory myeloma. The diagnosis can be missed because of the absence of monoclonal immunoglobulin in the serum or urine." "" + "obsolete benign neurilemmoma" "" "true" + "indolent plasma cell myeloma" "" + "smoldering plasma cell myeloma" "A plasma cell myeloma lacking clinical manifestations and organ impairment." "" + "bronchiectasis" "Segmental, irreversible dilation of the bronchial tree resulting in the accumulation of secretions which leads to obstruction. The most common cause is bacterial infection." "" + "chronic obstructive pulmonary disease" "A chronic and progressive lung disorder characterized by the loss of elasticity of the bronchial tree and the air sacs, destruction of the air sacs wall, thickening of the bronchial wall, and mucous accumulation in the bronchial tree. The pathologic changes result in the disruption of the air flow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough, and chest tightness. The two main types of chronic obstructive pulmonary disease are chronic obstructive bronchitis and emphysema." "" + "obsolete dextrocardia" "" "true" + "neonatal candidiasis" "A fungal infection by any of the Candida species in a newborn infant up to 28 days old." "" + "obsolete encephalitis" "" "true" + "urethral calculus" "A concretion in the urethra." "" + "urolithiasis" "Stone(s) within the urinary tract." "" + "esophagus squamous cell papilloma" "A rare neoplasm arising from the distal third of the esophagus. Morphologically, it is characterized by the presence of fibrovascular cores covered by mature stratified squamous epithelium. Progression to squamous cell carcinoma is extremely rare." "" + "Krukenberg carcinoma" "Metastatic signet-ring cell carcinoma to the ovary. The primary site is the gastrointestinal tract or breast." "" + "metastatic carcinoma" "A carcinoma which has spread from the original site of growth to another anatomic site." "" + "proliferative fasciitis" "A rapidly growing, poorly circumscribed, mass-forming proliferation that arises from the subcutaneous tissues. It is characterized by the presence of spindle-shaped fibroblasts, round ganglion-like cells, myxoid to collagenous stroma formation, and high mitotic activity. It recurs only rarely following local excision and does not metastasize." "" + "esophagus leiomyoma" "A benign smooth muscle neoplasm arising from the lower part of the esophagus. It is the most common mesenchymal neoplasm of the esophagus. Dysphagia is a frequent clinical symptom." "" + "plantar fasciitis" "Inflammation of the thick tissue on the bottom of the foot (plantar fascia) causing heel pain. The plantar fascia (also called plantar aponeurosis) are bands of fibrous tissue extending from the calcaneal tuberosity to the toes. The etiology of plantar fasciitis remains controversial but is likely to involve a biomechanical imbalance. Though often presenting along with heel spur, they do not appear to be causally related." "" + "ischemic fasciitis" "A reactive, painless lesion which is characterized by a pseudosarcomatous proliferation of fibroblasts and myofibroblasts usually in the deep subcutaneous tissue. It occurs mainly around the limb girdles, sacral region, and greater trochanter. It affects mainly elderly patients and sometimes is associated with physical immobility. Local excision is usually curative." "" + "necrotizing fasciitis" "Necrotizing fasciitis is a serious infection of the skin, the tissue just beneath the skin (subcutaneous tissue), and the tissue that covers internal organs (fascia). Necrotizing fasciitis can be caused by several different types of bacteria, and the infection can arise suddenly and spread quickly. Early signs include flu-like symptoms and redness and pain around the infection site. A prompt diagnosis and treatment are essential.If the infection is not treated promptly, it can lead to multiple organ failure and death. Treatment typically includes intravenous (IV) antibiotics and surgery to remove infected and dead tissue." "" + "intravascular fasciitis" "A rare self-limiting, rapidly growing, non-encapsulated benign neoplasm that arises from the vessels. It is characterized by the presence of plump spindle-shaped fibroblasts, multinucleated osteoclast-like giant cells, chronic inflammatory infiltrate, red blood cell extravasation, and high mitotic activity." "" + "neurofibroma of the esophagus" "A non-metastasizing encapsulated neoplasm arising from nerves in the esophagus. Morphologically, it is characterized by the presence of fibroblasts and Schwann cells." "" + "orthostatic proteinuria" "" + "obsolete neurofibroma" "" "true" + "non-congenital cyst of kidney" "" + "kidney hypertrophy" "Global enlargement of the renal parenchyma in one or both kidneys." "" + "oral mucosa leukoplakia" "A white patch or plaque on the oral mucosa that cannot be characterized clinically or pathologically as any other disease. The diagnosis of leukoplakia is one of exclusion; other conditions such as candidiasis, lichen planus, leukoedema, etc., must be ruled out before a diagnosis of leukoplakia can be made. Leukoplakia may be a premalignant condition." "" + "aphthous stomatitis" "A recurrent disease of the oral mucosa of unknown etiology. It is characterized by small white ulcerative lesions, single or multiple, round or oval, lasting for 7-14 days and healing without scarring." "" + "canker sore" "A type of stomatitis that is characterized by small white ulcerative lesions, single or multiple, round or oval, lasting for 7-14 days and healing without scarring. It is a recurrent disease of the oral mucosa of unknown etiology." "" + "placental abruption" "Vaginal bleeding preceding the 20th week of gestation." "" + "ulcerative stomatitis" "Inflammation of the mouth mucosa associated with the presence of ulcers." "" + "obsolete yellow fever" "" "true" + "toxic myocarditis" "" + "gonococcal keratitis" "" + "ophthalmia neonatorum" "Inflammation of the conjunctiva in a newborn due to chemical or infectious causes. Aseptic conjunctivitis is often related to the use of prophylactic medications for infectious conjunctivitis. Septic conjunctivitis is related to perinatal exposure to microorganisms." "" + "gonococcal conjunctivitis" "Inflammation of the conjunctiva in a newborn due to Neisseria gonorrhoeae which was acquired during labor and delivery." "" + "rosacea conjunctivitis" "" + "tendinopathy" "Disorders that are causes by overuse of tendons." "" + "occlusion of gallbladder" "Blockage of the normal flow of the contents of the gallbladder." "" + "hydrops of gallbladder" "" + "vitreous body disorder" "Any disease affecting the vitreous body of the eye." "" + "ophthalmia nodosa" "" + "vitreous abscess" "" + "purulent endophthalmitis" "" + "acute allergic mucoid otitis media" "A blue drum syndrome caused by an allergen." "" + "blue drum syndrome" "A acute transudative otitis media involving thick, viscid and mucuslike fluid effusion due to which the drum appears blue in color." "" + "obsolete diabetic neuropathy" "" "true" + "perianal hematoma" "" + "hemorrhoid" "Dilated veins in the anal canal." "" + "internal hemorrhoid" "A hemorrhoid which originates above the dentate line." "" + "ganglion or cyst of synovium/tendon/bursa" "" + "xanthogranulomatous cholecystitis" "Cholecystitis that is characterized by nodules containing lipid." "" + "myocardial stunning" "Prolonged dysfunction of the myocardium after a brief episode of severe ischemia, with gradual return of contractile activity." "" + "transient neonatal thrombocytopenia" "" + "neonatal thrombocytopenia" "" + "female breast upper-outer quadrant cancer" "" + "senile atrophy of choroid" "" + "choroidal sclerosis" "A neurodegenerative disease that involves the optic choroid." "" + "myositis fibrosa" "A form of myositis that is characterized by the formation of connective tissue within the muscle." "" + "angioid streaks of choroid" "A angioid streaks that involves the optic choroid." "" + "angioid streaks" "Small breaks in the elastin-filled tissue of the retina." "" + "hereditary choroidal atrophy" "" + "diffuse secondary choroid atrophy" "" + "obsolete polyarteritis nodosa" "" "true" + "partial circumpapillary choroid dystrophy" "" + "total central choroidal atrophy" "" + "central areolar choroidal dystrophy" "A hereditary macular disorder, usually presenting between the ages of 30-60, characterized by a large area of atrophy in the centre of the macula and the loss or absence of photoreceptors, retinal pigment epithelium and choriocapillaris in this area, resulting in a progressive decrease in visual acuity." "" + "choroideremia" "Choroideremia (CHM) is an X-linked chorioretinal dystrophy characterized by progressive degeneration of the choroid, retinal pigment epithelium (RPE) and retina." "" + "partial central choroid dystrophy" "" + "hypertropia" "Vertical strabismus in which there is permanent upward deviation of the visual axis of one eye." "" + "cyclotropia" "" + "accommodative esotropia" "" + "hypotropia" "Vertical strabismus in which there is permanent downward deviation of the visual axis of one eye." "" + "total circumpapillary dystrophy of choroid" "" + "monofixation syndrome" "" + "peripheral vertigo" "" + "lingual-facial-buccal dyskinesia" "Syndromes which feature dyskinesias as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions." "" + "toxic maculopathy" "" + "intestinal disaccharidase deficiency" "Inherited or acquired disorders of sugar metabolism. Deficiencies of lactase, maltase or sucrase-isomaltase usually occur irreversibly and independent of one another. Congenital deficiencies are rare whereas acquired deficiencies are more common and may be seen following intestinal mucosal brush-border injury. Clinical signs include abdominal cramping, bloating, flatulence and diarrhea following dietary intake of lactose, maltose or sucrose. The clinical course leads to malabsorption of disaccharides which has implications for normal growth and development if manifested at an early age." "" + "metabolic disorder with intestinal involvement" "A metabolic disease that involves the intestine." "True" + "obsolete hereditary fructose intolerance syndrome" "" "true" + "hair anomaly" "" + "obsolete galactosemia" "" "true" + "urethral gland abscess" "" + "mitral valve prolapse" "A fairly common and often benign valvular heart disorder characterized by redundancy or hooding of mitral valve leaflets so that they prolapse into the left atrium, often causing mitral regurgitation. It is often a symptomless condition but may be marked by varied symptoms (e.g. chest pain, fatigue, dizziness, dyspnea, or palpitations) leading in some cases to endocarditis or ventricular tachycardia." "" + "cardiovascular syphilis" "A tertiary syphilis that is manifested as aneurysm formation in the ascending aorta, caused by chronic inflammatory destruction of the vasa vasorum, insufficiency of the aortic valve, or narrowing of the coronary arteries." "" + "obsolete muscular dystrophy" "" "true" + "alternating esotropia" "" + "celiac artery stenosis from compression by median arcuate ligament of diaphragm" "A syndromic disease that involves the median arcuate ligament." "" + "diaphragm disorder" "A disease involving the diaphragm." "" + "" "true" + "" "true" + "internal hordeolum" "A hordeolum that results from infection of a meibomian gland." "" + "sebaceous gland disorder" "A disease involving the sebaceous gland." "" + "central corneal ulcer" "" + "infected hydrocele" "" + "hydrocele" "" + "obsolete Omsk hemorrhagic fever" "" "true" + "developmental coordination disorder" "A disorder characterized by an impairment in the development of an individual's motor coordination skills; this impairment in motor development is not due to a medical condition." "" + "chronic inflammation of lacrimal passage" "" + "chronic canaliculitis" "Chronic form of actinomycosis." "" + "actinomycosis" "Actinomycosis is a chronic bacterial infection that commonly affects the face and neck. It is usually caused by an anaerobic bacteria called Actinomyces israelii. Actinomyces are normal inhabitants of the mouth, gastrointestinal tract, and female genital tract, and do not cause an infection unless there is a break in the skin or mucosa. The infection usually occurs in the face and neck, but can sometimes occur in the chest, abdomen, pelvis, or other areas of the body. The infection is not contagious." "" + "eye infectious disorder" "An infectious process affecting any part of the eye. Causes include viruses and bacteria. Symptoms include itching and discomfort in the eye, watery eyes, eye pain and discharge, and blurring vision. Representative examples include pink eye, blepharitis, and trachoma." "" + "chronic dacryocystitis" "Chronic form of dacryocystitis." "" + "dacryocystocele" "A congenital or acquired mucocele that develops in the lacrimal sac. It is usually the result of nasolacrimal duct abnormalities or obstruction." "" + "constant exophthalmos" "" + "steroid-induced glaucoma" "" + "residual stage corticosteroid-induced glaucoma" "" + "null-cell leukemia" "" + "hypoplastic left heart syndrome" "Hypoplastic left heart syndrome (HLHS) refers to the abnormal development of the left-sided cardiac structures, resulting in obstruction to blood flow from the left ventricular outflow tract. In addition, the syndrome includes underdevelopment of the left ventricle, aorta, and aortic arch, as well as mitral atresia or stenosis." "" + "congenital left-sided heart lesions" "Serious heritable structural anomalies of the left side of the heart, including hypoplastic left heart syndrome, aortic valve stenosis, coarctation of the aorta, mitral valve anomalies and bicuspid aortic valve, that are present from birth." "" + "univentricular cardiopathy" "" + "acquired carotenemia" "" + "carotenemia" "" + "uterine inversion" "A complication of obstetric labor in which the corpus of the uterus is forced completely or partially through the uterine cervix. This can occur during the late stages of labor and is associated with immediate postpartum hemorrhage." "" + "hypervitaminosis D" "" + "substance dependence" "The psychological or physiological need to take a substance in order to experience its effects or to avoid the effects of its absence." "" + "hallucinogen dependence" "A drug dependence for a hallucinogenic substance." "" + "acute female pelvic peritonitis" "" + "eosinophilia-myalgia syndrome" "A complex systemic syndrome with inflammatory and autoimmune components that affect the skin, fascia, muscle, nerve, blood vessels, lung, and heart. Diagnostic features generally include eosinophilia, myalgia severe enough to limit usual activities of daily living, and the absence of coexisting infectious, autoimmune or other conditions that may induce eosinophilia. Biopsy of affected tissue reveals a microangiopathy associated with diffuse inflammation involving connective tissue. (From Spitzer et al., J Rheumatol Suppl 1996 Oct;46:73-9; Blackburn wd, Semin Arthritis Rheum 1997 Jun;26(6):788-93)" "" + "orbit lymphoma" "A lymphoma that arises from the structures of the orbit. Representative examples include mucosa-associated lymphoid tissue lymphoma, follicular lymphoma, and diffuse large B-cell lymphoma." "" + "obsolete hypereosinophilic syndrome" "" "true" + "hypoglycemia" "Abnormally low level of glucose in the blood." "" + "B-cell acute lymphoblastic leukemia" "A neoplasm of lymphoblasts committed to the B-cell lineage, typically composed of small to medium-sized blast cells. When the neoplasm involves predominantly the bone marrow and the peripheral blood, it is called B acute lymphoblastic leukemia. When it involves nodal or extranodal sites, it is called B lymphoblastic lymphoma. (WHO, 2001)" "" + "B-cell non-Hodgkin lymphoma" "The most common type of non-Hodgkin lymphoma. It includes the most frequently seen morphologic variants which are: diffuse large B-cell lymphoma, follicular lymphoma, small lymphocytic lymphoma and marginal zone B-cell lymphoma. -- 2003" "" + "indolent B-cell non-Hodgkin lymphoma" "" + "susceptibility to HIV infection" "The type species of lentivirus and the etiologic agent of acquired immunodeficiency syndrome (AIDS). It is characterized by its cytopathic effect and affinity for the T4-lymphocyte." "" + "HIV infectious disease" "An infection caused by the human immunodeficiency virus." "" + "obsolete malt lymphoma" "" "true" + "metabolic syndrome" "A combination of medical conditions that, when present, increase the risk of heart attack, stroke, and diabetes mellitus. It includes the following medical conditions: increased blood pressure, central obesity, abnormal cholesterol levels, and elevated fasting glucose." "" + "metastatic prostate carcinoma" "A carcinoma that arises from the prostate gland and has spread to other anatomic sites." "" + "mucin-producing carcinoma" "" + "lip and oral cavity squamous cell carcinoma" "A squamous cell carcinoma arising from the lip or the oral cavity. The oral cavity squamous cell carcinoma usually arises from the buccal mucosa, tongue, or gums. It occurs predominantly in adults who use tobacco and alcohol and has a tendency to metastasize early to lymph nodes." "" + "stage I endometrioid carcinoma" "Endometrial cancer is a cancer that arises from the endometrium (the lining of the uterus or womb).It is the result of the abnormal growth of cells that have the ability to invade or spread to other parts of the body. The first sign is most often vaginal bleeding not associated with a menstrual period. Other symptoms include pain with urination or sexual intercourse, or pelvic pain. Endometrial cancer occurs most commonly after menopause. In stage I, the cancer is only growing in the body of the uterus. It may also be growing into the glands of the cervix, but is not growing into the supporting connective tissue of the cervix." "" + "obsolete stage of disease" "" "true" + "stage II endometrioid carcinoma" "Endometrial carcinoma is a carcinoma that arises from the endometrium (the lining of the uterus or womb). It is the result of the abnormal growth of cells that have the ability to invade or spread to other parts of the body. The first sign is most often vaginal bleeding not associated with a menstrual period. Other symptoms include pain with urination or sexual intercourse, or pelvic pain. Endometrial cancer occurs most commonly after menopause. In stage II the cancer has spread from the body of the uterus and is growing into the supporting connective tissue of the cervix (called the cervical stroma). The cancer has spread into connective tissue of the cervix, but has not spread outside the uterus." "" + "peripheral T-cell lymphoma, not otherwise specified" "Aggressive nodal or extranodal mature (peripheral) T-cell lymphomas that do not belong to the better defined entities of the remainder of mature T-cell lymphomas. This category includes the following variants: lymphoepithelioid cell variant (Lennert's lymphoma), follicular variant, and T-zone variant." "" + "lymphoid leukemia" "A malignant lymphocytic neoplasm of B-cell or T-cell lineage involving primarily the bone marrow and the peripheral blood. This category includes precursor or acute lymphoblastic leukemias and chronic leukemias." "" + "neoplasm of immature B and T cells" "A neoplasm arising from immature B and T cells" "" + "acute leukemia" "A clonal (malignant) hematopoietic disorder with an acute onset, affecting the bone marrow and the peripheral blood. The malignant cells show minimal differentiation and are called blasts, either myeloid blasts (myeloblasts) or lymphoid blasts (lymphoblasts)." "" + "obsolete acute myelomonocytic leukemia" "" "true" + "acute quadriplegic myopathy" "Acute quadriplegic myopathy (AQM) is a specific acquired myopathy in ICU patients. Patients with AQM are characterized by severe muscle weakness and atrophy of spinal nerve innervated limb and trunk muscles, while cranial nerve innervated craniofacial muscles, sensory and cognitive functions are spared or less affected. The muscle weakness is associated with altered muscle membrane properties and a preferential loss of the motor protein myosin and myosin-associated thick filament proteins. Prolonged mechanical ventilation, muscle unloading, postsynaptic block of neuromuscular transmission, sepsis and systemic corticosteroid hormone treatment have been suggested as important triggering factors in AQM." "" + "adenosquamous lung carcinoma" "An aggressive carcinoma with a poor prognosis characterized by a presence of both malignant squamous cells and glandular cells." "" + "non-small cell squamous lung carcinoma" "A squamous cell carcinoma that arises from the lung. It is characterized by the presence of large malignant cells. It includes the clear cell and papillary variants of squamous cell carcinoma." "" + "adrenal gland pheochromocytoma" "A benign or malignant neuroendocrine neoplasm of the sympathetic nervous system that secretes catecholamines. It arises from the chromaffin cells of the adrenal medulla. Clinical presentation includes headaches, palpitations, chest and abdominal pain, hypertension, fever, and tremor. Microscopically, a characteristic nesting (zellballen) growth pattern is usually seen. Other growth patterns including trabecular pattern may also be present." "" + "Alzheimer disease" "A progressive, neurodegenerative disease characterized by loss of function and death of nerve cells in several areas of the brain leading to loss of cognitive function such as memory and language." "" + "tauopathy" "Neurodegenerative disorders involving deposition of abnormal tau protein isoforms (tau proteins) in neurons and glial cells in the brain. Pathological aggregations of tau proteins are associated with mutation of the tau gene on chromosome 17 in patients with alzheimer disease; dementia; parkinsonian disorders; progressive supranuclear palsy (supranuclear palsy, progressive); and corticobasal degeneration." "" + "amyotrophic lateral sclerosis" "Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by progressive muscular paralysis reflecting degeneration of motor neurons in the primary motor cortex, corticospinal tracts, brainstem and spinal cord." "" + "angioimmunoblastic T-cell lymphoma" "A mature T-cell non-Hodgkin lymphoma, characterized by systemic disease and a polymorphous infiltrate involving lymph nodes and extranodal sites. The clinical course is typically aggressive." "" + "aortic stenosis" "In the same amount or manner; to the same degree; in the role, function, or capacity of." "" + "atrial fibrillation" "A disorder characterized by an electrocardiographic finding of a supraventricular arrhythmia characterized by the replacement of consistent P waves by rapid oscillations or fibrillatory waves that vary in size, shape and timing and are accompanied by an irregular ventricular response. (CDISC)" "" + "azoospermia" "Complete absence of spermatozoa in the semen." "" + "genetic infertility" "Genetic infertility." "" + "basal-like breast carcinoma" "A biologic subset of breast carcinoma defined by high expression of genes characteristic of basal epithelial cells, including KRT5 and KRT17, annexin 8, CX3CL1, and TRIM29, and usually by lack of expression of the estrogen receptor (ER), progesterone receptor (PR), and human epidermal growth factor receptor 2 (HER2). It is the most common subtype of breast cancer associated with BRCA1 mutations, and is associated with a poor prognosis." "" + "triple-negative breast carcinoma" "An invasive breast carcinoma which is negative for expression of estrogen receptor (ER), progesterone receptor (PR), and human epidermal growth factor receptor 2 (HER2)." "" + "breast tumor luminal A or B" "Subsets of breast carcinoma defined by expression of genes characteristic of luminal epithelial cells." "" + "childhood acute myeloid leukemia" "Acute myeloid leukemia occurring in childhood." "" + "acute myeloid leukemia" "Acute myeloid leukemia (AML) is a group of neoplasms arising from precursor cells committed to the myeloid cell-line differentiation. All of them are characterized by clonal expansion of myeloid blasts. AML manifests by fever, pallor, anemia, hemorrhages and recurrent infections." "" + "bilineal acute myeloid leukemia" "An acute leukemia of ambiguous lineage in which there is a dual population of blasts with each population expressing markers of a distinct lineage (myeloid and lymphoid or B-and T-lymphocyte). (WHO, 2001) -- 2003" "" + "chondroblastoma" "A benign, chondroid-producing, well-circumscribed, lytic neoplasm usually arising from the epiphysis of long bones. It is characterized by the presence of chondroblasts, osteoclast-like giant cells, chondroid formation, calcification, and mitotic activity. In aggressive cases, there is rearrangement of the 8q21 chromosome band. It occurs most frequently in children and young adults and rarely metastasizes." "" + "obsolete chondromyxoid fibroma" "" "true" + "obsolete chondrosarcoma" "" "true" + "obsolete chromophobe renal cell carcinoma" "" "true" + "chronic gastritis" "Inflammation of the stomach that is chronic in nature." "" + "chronic pancreatitis" "A chronic inflammatory process causing damage and fibrosis of the pancreatic parenchyma. Signs and symptoms include abdominal pain, malabsorption and diabetes mellitus." "" + "nonpapillary renal cell carcinoma" "" + "clear cell sarcoma of kidney" "A rare pediatric sarcoma affecting the kidney. It is characterized by the presence of epithelioid or spindle cells forming cords or nests, separated by fibrovascular septa. It is associated with internal tandem duplications in the BCOR gene. It metastasizes to lung, bone, brain and soft tissue." "" + "obsolete inherited renal tumor" "" "true" + "colon mucinous adenocarcinoma" "An invasive adenocarcinoma of the colon characterized by the presence of pools of extracellular mucin. Malignant glandular epithelial cells are present in the mucin collections. Mucin constitutes more than 50% of the lesion." "" + "heart failure" "Inability of the heart to pump blood at an adequate rate to meet tissue metabolic requirements. Clinical symptoms of heart failure include: unusual dyspnea on light exertion, recurrent dyspnea occurring in the supine position, fluid retention or rales, jugular venous distension, pulmonary edema on physical exam, or pulmonary edema on chest x-ray presumed to be cardiac dysfunction." "" + "inflammatory bowel disease" "A spectrum of small and large bowel inflammatory diseases of unknown etiology. It includes Crohn's disease, ulcerative colitis, and colitis of indeterminate type." "" + "melanocytic skin neoplasm" "A melanocytic neoplasm that involves the zone of skin." "" + "dedifferentiated chondrosarcoma" "An aggressive morphologic variant of chondrosarcoma. It is composed of a low grade chondrosarcoma and a high grade non-cartilagenous sarcomatous component. Due to the aggressive nature of the disease, its prognosis is poor." "" + "obsolete dermatomyositis" "Inflammation of the skin and muscle." "" "true" + "diabetic kidney disease" "Progressive kidney disorder caused by vascular damage to the glomerular capillaries, in patients with diabetes mellitus. It is usually manifested with nephritic syndrome and glomerulosclerosis." "" + "diffuse type adenocarcinoma" "An adenocarcinoma characterized by the presence of a diffuse cellular infiltrate which is composed of poorly cohesive cells with minimal or no glandular formations. Representative example is the gastric diffuse adenocarcinoma." "" + "obsolete diffuse large B-cell lymphoma" "" "true" + "diffuse scleroderma" "A variant of systemic scleroderma characterized by sclerosis of the skin, Raynaud phenomenon, and organ involvement, including pulmonary fibrosis, renal disease, and gastrointestinal tract involvement." "" + "dilated cardiomyopathy" "Cardiomyopathy which is characterized by dilation and contractile dysfunction of the left and right ventricles. It may be idiopathic, or it may result from a myocardial infarction, myocardial infection, or alcohol abuse. It is a cause of congestive heart failure." "" + "obsolete ductal breast adenocarcinoma" "" "true" + "ductal breast carcinoma in situ" "A carcinoma entirely confined to the mammary ducts. It is also known as DCIS. There is no evidence of invasion of the basement membrane. Currently, it is classified into three categories: High-grade DCIS, intermediate-grade DCIS and low-grade DCIS. In this classification the DCIS grade is defined by a combination of nuclear grade, architectural growth pattern and presence of necrosis. The size of the lesion as well as the grade and the clearance margins play a major role in dictating the most appropriate therapy for DCIS." "" + "obsolete emphysema" "" "true" + "essential thrombocythemia" "A chronic myeloproliferative neoplasm that involves primarily the megakaryocytic lineage. It is characterized by sustained thrombocytosis in the blood, increased numbers of large, mature megakaryocytes in the bone marrow, and episodes of thrombosis and/or hemorrhage. (WHO, 2008)" "" + "fetal growth restriction" "A fetus that does not grow beyond the 10th percentile of conventionally accepted weight for gestational age." "" + "fibromatosis" "A poorly circumscribed neoplasm arising from the soft tissues. It is characterized by the presence of spindle-shaped fibroblasts and an infiltrative growth pattern." "" + "benign thyroid gland neoplasm" "A benign neoplasm arising from the thyroid gland." "" + "neuroblastic tumor" "A group of nervous system tumors which display neuronal differentiation. It includes tumors that are composed of immature round cells and tumors that display advanced differentiation and the formation of ganglion cells." "" + "mixed neuronal-glial tumor" "A group of central nervous system neoplasms with a variable amount of neuronal and, less consistently, glial differentiation. They occur at a low frequency and usually carry a favorable prognosis. Representative examples include dysplastic cerebellar gangliocytoma, desmoplastic infantile ganglioglioma, desmoplastic infantile astrocytoma, and dysembryoplastic neuroepithelial tumor. (Adapted from WHO)" "" + "sympathetic nervous system disorder" "A disease or disorder that involves the sympathetic nervous system." "" + "differentiated thyroid carcinoma" "Differentiated thyroid carcinoma (DTC), also known as papillary or follicular thyroid carcinoma, is a slow-growing malignancy usually presenting in adults as an asymptomatic thyroid mass." "" + "thyroid gland adenocarcinoma" "An adenocarcinoma arising from the follicular cells of the thyroid gland. According to the degree of differentiation, it is classified either as differentiated carcinoma (extensive evidence of follicular cell differentiation), or poorly differentiated carcinoma (limited evidence of follicular cell differentiation)." "" + "gastric intestinal type adenocarcinoma" "An adenocarcinoma of the stomach arising on a background of intestinal metaplasia. Microscopically, it is characterized by a glandular pattern and it closely resembles a colonic adenocarcinoma. Grossly, it tends to be nodular, polypoid or ulcerated." "" + "obsolete genetic disorder" "" "true" + "hyperplasia" "An abnormal increase in the number of cells in an organ or a tissue with consequent enlargement." "" + "cancer or benign tumor" "Any disorder that features disrupted cell proliferation. Includes hyperplasia, neoplastic syndrome and isolated neoplasm diseases as well as precancerous conditions." "" + "hypertrophic cardiomyopathy" "A condition in which the myocardium is hypertrophied without an obvious cause. The hypertrophy is generally asymmetric and may be associated with obstruction of the ventricular outflow tract." "" + "infertility disorder" "Inability to conceive for at least one year after trying and having unprotected sex. Causes of female infertility include endometriosis, fallopian tubes obstruction, and polycystic ovary syndrome. Causes of male infertility include abnormal sperm production or function, blockage of the epididymis, blockage of the ejaculatory ducts, hypospadias, exposure to pesticides, and health related issues." "" + "pancreatic insulin-producing neuroendocrine tumor" "An insulin-producing neuroendocrine tumor arising from the beta cells of the pancreas. It may or may not be associated with inappropriate secretion of insulin and an associated clinical syndrome." "" + "intracranial hemorrhage" "Bleeding within the cranium." "" + "invasive ductal and lobular carcinoma" "An invasive ductal breast carcinoma associated with a lobular carcinomatous component. The lobular carcinomatous component may be in situ or invasive." "" + "mixed lobular and ductal breast carcinoma" "A breast carcinoma characterized by the presence of a lobular and a ductal component. The ductal component comprises less than 50 percent of the tumor." "" + "invasive lobular breast carcinoma" "An infiltrating lobular adenocarcinoma of the breast. The malignant cells lack cohesion and are arranged individually or in a linear manner (Indian files), or as narrow trabeculae within the stroma. The malignant cells are usually smaller than those of ductal carcinoma, are less pleomorphic, and have fewer mitotic figures." "" + "irritable bowel syndrome" "Irritable bowel syndrome (IBS) is a chronic functional condition of the lower gastrointestinal (GI) tract characterised by abdominal pain or discomfort and disordered bowel habit (diarrhoea, constipation, or fluctuation between the two)." "" + "obsolete juvenile dermatomyositis" "" "true" + "human herpesvirus 8-related tumor" "" + "Epstein-Barr virus-associated mesenchymal tumor" "" + "bone marrow neoplasm" "Neoplasms that affect the bone marrow. Such neoplasms may arise in the bone marrow (e.g. myeloid leukemias) or may involve the bone marrow as secondary, metastatic tumors (e.g. metastatic carcinomas to the bone marrow)." "" + "lymphoid hemopathy" "" + "medullary breast carcinoma" "An infiltrating breast carcinoma with a relatively favorable prognosis. It is an uncommon carcinoma, accounting for less than 1% of all infiltrating breast carcinomas. It is well circumscribed, with soft cut surface and often of considerable size. Microscopically, the predominant growth pattern is syncytial with broad anastomosing bands or sheets of malignant cells. The malignant cells are round with abundant cytoplasm and vesicular nuclei. The sheets of malignant cells are associated with a marked lymphoplasmacytic infiltrate. Glandular or tubular structures are absent." "" + "obsolete infectious meningitis" "" "true" + "mesothelial neoplasm" "A benign or malignant neoplasm arising from mesothelial cells. Mesothelial cells are the lining cells of the pleura and peritoneum. -- 2003" "" + "obsolete narcolepsy with cataplexy" "" "true" + "neoplastic disease or syndrome" "Either an isolated neoplasm or a syndrome with neoplasm as a major feature." "" + "vascular malformation" "A non-neoplastic disorder that is the result of defects of vascular morphogenesis." "" + "melanocytic nevus" "A neoplasm composed of melanocytes that usually appears as a dark spot on the skin." "" + "papillary cystic neoplasm" "A benign, malignant, or borderline neoplasm characterized by the presence of papillary mucinous, serous, or clear cell structures and cystic structures." "" + "phyllodes tumor" "A benign, borderline, or malignant fibroepithelial neoplasm arising from the breast and rarely the prostate gland. It may recur following resection. The recurrence rates are higher for borderline and malignant phyllodes tumors. In borderline and malignant phyllodes tumors metastases to distant anatomic sites can occur. The incidence of metastases is higher in malignant phyllodes tumors." "" + "portal hypertension" "Increased blood pressure in the portal venous system. It is most commonly caused by cirrhosis. Other causes include portal vein thrombosis, Budd-Chiari syndrome, and right heart failure. Complications include ascites, esophageal varices, encephalopathy, and splenomegaly." "" + "psoriasis" "An autoimmune condition characterized by red, well-delineated plaques with silvery scales that are usually on the extensor surfaces and scalp. They can occasionally present with these manifestations: pustules; erythema and scaling in intertriginous areas, and erythroderma, that are often distributed on extensor surfaces and scalp." "" + "pityriasis rosea" "A mild, self-limited skin disorder that is most commonly seen in children and young adults. It is characterized by an initial large round spot on the chest, abdomen, or back, often referred to as a herald patch, that is usually followed within a week by a distinctive pattern of similar but smaller papules on the torso, arms, and legs. There may also be itching, especially when overheated." "" + "myalgic encephalomeyelitis/chronic fatigue syndrome" "A medical condition characterized by long-term fatigue and other symptoms that limit a person's ability to carry out ordinary daily activities." "" + "benign conjunctival neoplasm" "Abnormal growth of the cells of the conjunctiva without malignant characteristics." "" + "benign neoplasm of cornea" "A benign neoplasm that involves the cornea." "" + "obsolete rheumatoid arthritis" "" "true" + "severe acute respiratory syndrome" "A viral respiratory infection caused by the SARS coronavirus. It is transmitted through close person-to-person contact. It is manifested with high fever, headache, dry cough and myalgias. It may progress to pneumonia and cause death." "" + "Orthocoronavirinae infectious disease" "Infectious disease causes by viruses in the subfamily Orthocoronavirinae (coronaviruses). In humans, coronaviruses cause respiratory tract infections that can be mild, such as some cases of the common cold (among other possible causes, predominantly rhinoviruses), and others that can be lethal, such as SARS, MERS, and COVID-19." "" + "stroke disorder" "A sudden loss of neurological function secondary to hemorrhage or ischemia in the brain parenchyma due to a vascular event." "" + "structural epilepsy" "Structural epilepsies are conceptualized as having a distinct structural brain abnormality that has been demonstrated to be associated with a substantially increased risk of epilepsy in appropriately designed studies. The structural brain abnormality can be acquired (such as due to stroke, trauma or infection) or may be of genetic origin; however, as we currently understand it, the structural brain abnormality is a separate disorder interposed between the acquired or genetic defect and the epilepsy." "" + "subarachnoid hemorrhage" "Intracranial hemorrhage into the subarachnoid space." "" + "autoimmune disease with skin involvement" "A hypersensitivity reaction type II disease that involves the skin of body." "True" + "scleroderma" "Scleroderma is a rare autoimmune connective tissue disorder characterized by abnormal hardening of the skin and, sometimes, other organs. It is classified into two main forms: localized scleroderma and systemic sclerosis (SSc), the latter comprising three subsets; diffuse cutaneous SSc (dcSSc), limited cutaneous SSc (lcSSc) and limited SSc (lSSc)." "" + "secondary glomerular disease" "Secondary glomerular diseases are conditions with glomerular pathology in which an underlying cause can be established." "" + "autoimmune cardiomyopathy" "An autoimmune form of cardiomyopathy." "" + "ulcerative colitis" "An inflammatory bowel disease involving the mucosal surface of the large intestine and rectum. It may present with an acute or slow onset and follows an intermittent or continuous course. Signs and symptoms include abdominal pain, diarrhea, fever, weight loss, and intestinal hemorrhage." "" + "undifferentiated (embryonal) sarcoma" "An aggressive malignant mesenchymal neoplasm that arises from the liver and usually occurs in older children. It is composed of immature spindle, stellate, polymorphous, and giant cells." "" + "aJCC grade 1 sarcoma" "Cancer cells are given a score of 1 to 3, with 1 being assigned when they look similar to normal cells and 3 being used when the cancer cells look very abnormal. Certain types of sarcoma are given a higher score automatically. See also NCIt:C9419 (Synonym of AJCC G1 Sarcoma)" "" + "benign lipomatous neoplasm" "A benign mesenchymal neoplasm composed of adipose (fatty) tissue. The most common representative of this category is the lipoma." "" + "obsolete hepatocellular adenoma" "" "true" + "viral disease or post-viral disorder" "A viral infectious disease that result from the presence and activity of a viral agent, or a disorder that follows infection with an viral agent but is distinct from the usual manifestations of the infection itself." "" + "viral sexually transmitted disease" "Viral diseases which are potentially transmitted or propagated by sexual conduct." "" + "lentivirus infection" "Virus diseases caused by the Lentivirus genus. They are multi-organ diseases characterized by long incubation periods and persistent infection." "" + "idiopathic cardiomyopathy" "A disease of the heart muscle or myocardium proper whose cause is unknown." "" + "pneumococcal infection" "Infections with bacteria of the species streptococcus pneumoniae." "" + "temporal lobe epilepsy" "A localization-related (focal) form of epilepsy characterized by recurrent seizures that arise from foci within the temporal lobe, most commonly from its mesial aspect. A wide variety of psychic phenomena may be associated, including illusions, hallucinations, dyscognitive states, and affective experiences. The majority of complex partial seizures (see epilepsy, complex partial) originate from the temporal lobes. Temporal lobe seizures may be classified by etiology as cryptogenic, familial, or symptomatic (i.e., related to an identified disease process or lesion). (From Adams et al., Principles of Neurology, 6th ed, p321)" "" + "Whipple disease" "A systemic infection caused by the Gram-positive bacterium Tropheryma whipplei. It affects the small intestine resulting in malabsorption. Other sites or systems affected by the infection are the joints, central nervous system, and the cardiovascular system." "" + "Aeromonas hydrophila infectious disease" "Aeromonas hydrophila infection is a bacterial disease caused by infection from the Aeromonas hydrophila bacteria." "" + "human granulocytic ehrlichiosis" "A tick-borne, infectious disease caused by Anaplasma phagocytophilum, an obligate intracellular bacterium that is typically transmitted to humans by ticks of the Ixodes ricinus species complex." "" + "anaplasmosis" "An disease or disorder caused by infection with Anaplasma." "" + "Bacillaceae infectious disease" "Infections with bacteria of the family bacillaceae." "" + "Drosophila C virus infection" "A virus infection induced by Drosophila C virus (DCV) which is a positive-sense RNA virus belonging to the Dicistroviridae family. This natural pathogen of the model organism Drosophila melanogaster is commonly used to investigate antiviral host-defense in flies, which involves both RNA interference and inducible responses." "" + "Enterococcus faecalis infection" "A bacterial infection induced by Enterococcus faecalis which is the most prevalent species (along with Enterococcus faecium) cultured from humans, accounting for more than 90% of clinical isolates. Enterococci are part of the normal intestinal flora of humans and animals. They have been long recognized as important human pathogens." "" + "Pectobacterium carotovorum infection" "A bacterial infection induced by Pectobacterium carotovorum which is is a bacterium of the family Enterobacteriaceae. This bacterius is a ubiquitous plant pathogen with a wide host range (carrot, potato, tomato, leafy greens, squash and other cucurbits, onion, green peppers, African violets etc.), able to cause disease in almost any plant tissue it invades. It is a very economically important pathogen in terms of postharvest losses, and a common cause of decay in stored fruits and vegetables. Decay caused by E. carotovora is often simply referred to as \"bacterial soft rot\" (BSR) though this may also be caused by other bacteria. Most plants or plant parts can resist invasion by the bacteria, unless some type of wound is present. High humidity and temperatures around 30°C favor development of decay. Mutants can be produced which are less virulent. Virulence factors include: pectinases, cellulases, (which degrade plant cell walls), and also proteases, lipases, xylanases and nucleases (along with the normal virulence factors for pathogens – Fe acquisition, LPS integrity, multiple global regulatory systems)." "" + "obsolete Hibiscus chlorotic ringspot virus infection" "" "true" + "male infertility due to obstructive azoospermia" "True" + "borderline leprosy" "A form of leprosy in which there are clinical manifestations of both principal types (lepromatous and tuberculoid). The disease may shift toward one of these two polar or principal forms." "" + "tuberculoid leprosy" "A principal or polar form of leprosy in which the skin lesions are few and are sharply demarcated. Peripheral nerve involvement is pronounced and may be severe. Unlike lepromatous leprosy (leprosy, lepromatous), the lepromin test is positive. Tuberculoid leprosy is rarely a source of infection to others." "" + "lepromatous leprosy" "A chronic communicable infection which is a principal or polar form of leprosy. This disorder is caused by mycobacterium leprae and produces diffuse granulomatous skin lesions in the form of nodules, macules, or papules. The peripheral nerves are involved symmetrically and neural sequelae occur in the advanced stage." "" + "celiac disease" "An autoimmune genetic disorder with an unknown pattern of inheritance that primarily affects the digestive tract. It is caused by intolerance to dietary gluten. Consumption of gluten protein triggers an immune response which damages small intestinal villi and prevents adequate absorption of nutrients. Clinical signs include abdominal cramping, diarrhea or constipation and weight loss. If untreated, the clinical course may progress to malnutrition, anemia, osteoporosis and an increased risk of intestinal malignancies. However, the prognosis is favorable with successful avoidance of gluten in the diet." "" + "experimental autoimmune encephalomyelitis" "An autoimmune demyelinating disease of the central nervous system that is produced experimentally in animals by the injection of homogenized brain or spinal cord in Freund's adjuvant. Myelin basic protein appears to be the antigen that elicits the hypersensitivity immune response which is characterized by focal areas of lymphocyte and macrophage infiltration into the brain, associated with demyelination and destruction of the blood-brain barrier. Experimental allergic encephalomyelitis (EAE) is used as an animal model for demyelinating diseases of the human central nervous system such as multiple sclerosis." "" + "CNS demyelinating autoimmune disease" "Conditions characterized by loss or dysfunction of myelin (see myelin sheath) in the brain, spinal cord, or optic nerves secondary to autoimmune mediated processes. This may take the form of a humoral or cellular immune response directed toward myelin or oligodendroglia associated autoantigens." "" + "erythrocyte disorder" "A disease or disorder that involves the erythrocyte." "" + "morbid obesity" "An excess of body weight, normally defined as an individual with a body mass index greater than 35 or a body weight greater than one hundred percent of ideal body weight." "" + "obesity disorder" "A disorder involving an excessive amount of body fat." "" + "Pseudomonas infection" "Infections with bacteria of the genus pseudomonas." "" + "Pseudomonas aeruginosa CF5 infection" "A Pseudomonas aeruginosa CF5 infection is a Pseudomonas infection of strain CF5." "" + "Pseudomonas aeruginosa infectious disease" "" + "Pseudomonas aeruginosa PA14 infection" "A Pseudomonas aeruginosa PA14 infection is a Pseudomonas infection of strain PA14." "" + "familial amyotrophic lateral sclerosis" "An instance of amyotrophic lateral sclerosis that is caused by an inherited modification of the individual's genome." "" + "sporadic amyotrophic lateral sclerosis" "Sporadic amyotrophic lateral sclerosis is a amyotrophic lateral sclerosis in which there is no known cause, such as no family history." "" + "post-traumatic stress disorder" "An anxiety disorder precipitated by an experience of intense fear or horror while exposed to a traumatic (especially life-threatening) event. The disorder is characterized by intrusive recurring thoughts or images of the traumatic event; avoidance of anything associated with the event; a state of hyperarousal and diminished emotional responsiveness. These symptoms are present for at least one month and the disorder is usually long-term." "" + "neurotic disorder" "A form of functional mental illness that manifests in distressed emotional reactions such as anxiety, obsessive thoughts, compulsive behaviors, or irrational fears." "" + "type 1 diabetes mellitus" "A chronic condition characterized by minimal or absent production of insulin by the pancreas." "" + "diabetic ketoacidosis" "The metabolic condition resulted from uncontrolled diabetes mellitus, in which the shift of acid-base status of the body toward the acid side because of loss of base or retention of acids other than carbonic acid is accompanied by the accumulation of ketone bodies in body tissues and fluids." "" + "pulmonary hypertension" "Increased pressure within the pulmonary circulation due to lung or heart disorder." "" + "age-related macular degeneration" "Age-related loss of vision in the central portion of the retina (macula), secondary to retinal degeneration." "" + "obsolete disease by anatomical system" "A disease that disrupts the functioning of an organ system." "" "true" + "hypopituitarism" "A condition of diminution or cessation of secretion of one or more hormones from the anterior pituitary gland. This may result from surgical or radiation ablation, non-secretory pituitary neoplasms, metastatic tumors, infarction, pituitary apoplexy, infiltrative or granulomatous processes, and other conditions." "" + "cirrhosis of liver" "A disorder characterized by replacement of the liver parenchyma with fibrous tissue and regenerative nodules. It is usually caused by alcoholism, hepatitis B, and hepatitis C. Complications include the development of ascites, esophageal varices, bleeding, and hepatic encephalopathy." "" + "obsolete coronary heart disease" "" "true" + "aortic aneurysm" "A ruptured aneurysm located in the wall of the proximal portion of the descending aorta proceeding from the arch of the aorta." "" + "human papilloma virus infection" "An infectious process caused by a human papillomavirus. This infection can cause abnormal tissue growth." "" + "obsolete influenza infection" "" "true" + "simian immunodeficiency virus infection" "An infection affecting monkeys, chimpanzees, and other non human primates caused by a HIV-like virus." "" + "osteoma" "A benign, well-circumscribed, bone-forming neoplasm predominantly composed of lamellar bone. It usually arises from the calvarial, facial, or jaw bones. It is usually asymptomatic but it may cause local swelling or obstruction of the paranasal sinuses. Asymptomatic cases have an indolent clinical course." "" + "obsolete chronic myeloproliferative disorder" "Chronic form of myeloproliferative neoplasm." "" "true" + "actinic keratosis" "A precancerous lesion of the skin composed of atypical keratinocytes. It is characterized by the presence of thick, scaly patches of skin. Several histologic variants have been described, including atrophic, acantholytic, and hyperkeratotic variants." "" + "acute hypotension" "Acute form of hypotension (disease)." "" + "aggressive insulitis" "Insulitis is an inflammatory infiltration of the islets of Langerhans found especially in young patients with recent onset type 1 diabetes." "" + "benign insulitis" "A benign form of insulitis which is an inflammation of the islets of Langerhans of the pancreas. The pancreas and in some cases the Pancreatic β-cells become infiltrated by polymorphonuclear leukocytes and infiltrated by mononuclear cells, leading to inflammation." "" + "osteoarthritis" "A noninflammatory degenerative joint disease occurring chiefly in older persons, characterised by degeneration of the articular cartilage, hypertrophy of bone at the margins and changes in the synovial membrane. It is accompanied by pain and stiffness, particularly after prolonged activity." "" + "parkinsonian disorder" "A group of disorders which feature impaired motor control characterized by bradykinesia, MUSCLE RIGIDITY; TREMOR; and postural instability. Parkinsonian diseases are generally divided into primary parkinsonism (see PARKINSON DISEASE), secondary parkinsonism (see PARKINSON DISEASE, SECONDARY) and inherited forms. These conditions are associated with dysfunction of dopaminergic or closely related motor integration neuronal pathways in the BASAL GANGLIA." "" + "chronic childhood arthritis" "An older, deprecated term that encompassed three major types of autoimmune or autoinflammatory arthritis in children: systemic-onset, pauciarticular, or polyarticular arthritis. The juvenile rheumatoid arthritis classification system has been replaced by the International League of Associations for Rheumatology (ILAR) juvenile idiopathic arthritis classification system." "" + "cocaine dependence" "A psychologically and socially impaired state, with or without physiological changes, that develops as a result of using cocaine and which leads to compulsive behaviors to acquire the substance." "" + "human herpesvirus 8 infection" "An infectious process caused by the human herpesvirus 8. This infection is associated with Kaposi sarcoma." "" + "iatrogenic Kaposi's sarcoma" "A Kaposi sarcoma that develops after organ transplantation or immunosuppressive treatment." "" + "iatrogenic" "A characteristic of a diseae which results from diagnostic and therapeutic procedures undertaken on a patient." "" + "nosocomial infection" "An infection acquired in a hospital or other healthcare setting." "" + "internal carotid artery stenosis" "Carotid stenosis is a narrowing or constriction of the inner surface (lumen) of the carotid artery, usually caused by atherosclerosis. The internal carotid artery supplies the brain. Plaque often builds up at that division, and causes a narrowing (stenosis). Pieces of plaque can break off and block the small arteries above in the brain, which causes a stroke. Plaque can also build up at the origin of the carotid artery at the aorta." "" + "macroglobulinemia" "Macroglobulinemia is the presence of increased levels of macroglobulins in the circulating blood. It is a Plasma cell dyscrasia, resembling leukemia, with cells of lymphocytic, plasmacytic, or intermediate morphology, which secrete a monoclonal immunoglobulin M component. There is diffuse infiltration by the malignant cells of the bone marrow and also, in many cases, of the spleen, liver, or lymph nodes. The circulating macroglobulin can produce symptoms of hyperviscosity syndrome: weakness, fatigue, bleeding disorders, and visual disturbances. Peak incidence of macroglobulinemia is in the sixth and seventh decades of life." "" + "metastatic neoplasm" "A tumor that has spread from its original (primary) site of growth to another site, close to or distant from the primary site. Metastasis is characteristic of advanced malignancies, but in rare instances can be seen in neoplasms lacking malignant morphology." "" + "prostate intraepithelial neoplasia" "A neoplastic proliferation of the epithelial cells that line the acini and the ducts of the prostate gland. The neoplastic epithelial cells are confined within the acini and the ducts and they do not invade the surrounding prostatic stroma. Morphologically, it is classified as low or high grade." "" + "intraepithelial neoplasia" "A precancerous neoplastic process that affects the squamous, glandular, or transitional cell epithelium without evidence of invasion. According to the degree of nuclear atypia, number of mitotic figures, and presence of architectural distortion, it is classified as low grade (mild dysplasia) or high grade (moderate or severe dysplasia)." "" + "Rotavirus infection" "Infection with any of the rotaviruses. Specific infections include human infantile diarrhea, neonatal calf diarrhea, and epidemic diarrhea of infant mice." "" + "Reoviridae infectious disease" "Infections produced by reoviruses, general or unspecified." "" + "septic peritonitis" "Septic peritonitis is an inflammatory condition of the peritoneum that occurs secondary to microbial contamination. This clinically important condition has a wide variety of clinical courses as well as high morbidity and mortality due to secondary multiorgan dysfunction. This article reviews the etiology and pathophysiology of this condition and its diagnosis in small animals; a companion article addresses treatment and prognosis." "" + "obsolete teratozoospermia" "Presence of structurally anomalous spermatozoa in the semen; malformations include the physical bending of the sperm to produce kinks or bends" "" "true" + "vulvar intraepithelial neoplasia" "Intraepithelial neoplasia of the vulvar squamous epithelium. There is no evidence of invasion. This category includes vulvar high grade squamous intraepithelial lesion and vulvar intraepithelial neoplasia, differentiated type." "" + "obsolete peripartum cardiomyopathy" "" "true" + "viral dilated cardiomyopathy" "An dilated cardiomyopathy caused by infection with Viruses." "" + "restrictive cardiomyopathy" "A type of heart disorder referring to the inability of the ventricles to fill with blood because the myocardium (heart muscle) stiffens and looses its flexibility. Causes include replacement of the myocardium with scar tissue, abnormal cellular infiltration of the myocardium, or deposition of a substance (e.g., amyloid) in the myocardium." "" + "atopic IgE-mediated allergic disorder" "A genetic predisposition to form IgE antibodies in response to exposure to allergens and therefore, for the development of immediate (type I) hypersensitivity and atopic conditions, such as allergic rhinitis; bronchial asthma, atopic dermatitis, and food allergy. Mutations of specific alleles on the long arm of chromosome 5 have been associated with higher levels of IL-4 and IgE and are known as IL-4 promoter polymorphisms." "" + "ischemia reperfusion injury" "Adverse functional, metabolic, or structural changes in ischemic tissues resulting from the restoration of blood flow to the tissue (reperfusion), including swelling; hemorrhage; necrosis; and damage from free radicals. The most common instance is myocardial reperfusion injury." "" + "primary antiphospholipid syndrome" "An antiphospholipid syndrome that occurs as an isolated disorder." "" + "antiphospholipid syndrome" "A disorder caused by the presence of autoantibodies directed against phospholipids, causing a hypercoaguable state, which may result in blood clots, stroke, heart attack, and in women, significant pregnancy-related complications, including miscarriage and still birth. The syndrome is often associated with other autoimmune disorders, most commonly lupus erythematosus, and infections, including syphilis and Lyme disease." "" + "obsolete systemic lupus erythematosus" "" "true" + "amelanotic skin melanoma" "A amelanotic melanoma that involves the zone of skin." "" + "obsolete cutaneous T-cell lymphoma" "" "true" + "malignant ovarian serous tumor" "An invasive malignant neoplasm that arises from the ovary and is characterized by the presence of malignant epithelial cells that, in well differentiated tumors, resemble the epithelium of the fallopian tube or, in poorly differentiated tumors, show anaplastic features and marked nuclear atypia. It includes serous adenocarcinoma and serous adenocarcinofibroma." "" + "muscular tumor" "" + "familial cardiomyopathy" "An instance of cardiomyopathy that is caused by an inherited modification of the individual's genome." "" + "collecting duct carcinoma" "A carcinoma that arises from epithelial cells of the collecting duct of renal tubule" "" + "obsolete acute megakaryoblastic leukaemia" "" "true" + "acute myeloid leukemia with minimal differentiation" "An acute myeloid leukemia (AML) in which the blasts do not show evidence of myeloid differentiation by morphology and conventional cytochemistry. (WHO, 2001)" "" + "acute myeloid leukemia by FAB classification" "Acute myeloid leukemias that do not fulfill the criteria for inclusion in the group of acute myeloid leukemias which have recurrent genetic abnormalities or myelodysplastic changes, or are therapy-related. This category includes entities classified according to the French-American-British classification scheme." "" + "acute myeloblastic leukemia without maturation" "An acute myeloid leukemia (AML) characterized by blasts without evidence of maturation to more mature neutrophils. (WHO, 2001)" "" + "obsolete acute myeloblastic leukemia with maturation" "" "true" + "obsolete acute basophilic leukemia" "" "true" + "obsolete anaplastic large cell lymphoma" "" "true" + "cellulitis" "Inflammation of the dermis and subcutaneous tissues caused by a bacterial infection. Symptoms include erythema, edema, and pain to the affected area." "" + "vesiculobullous skin disease" "Skin diseases characterized by local or general distributions of blisters. They are classified according to the site and mode of blister formation. Lesions can appear spontaneously or be precipitated by infection, trauma, or sunlight. Etiologies include immunologic and genetic factors. (From Scientific American Medicine, 1990)" "" + "hepatitis C virus infection" "A viral infection caused by the hepatitis C virus." "" + "obsolete polymyositis" "" "true" + "obsolete pleomorphic liposarcoma" "" "true" + "round cell liposarcoma" "A poorly differentiated liposarcoma, characterized by the presence of solid sheets of primitive round mesenchymal cells and the absence of myxoid stroma." "" + "myxoid/round cell liposarcoma" "Myxoid/round cell liposarcoma (MRCLS) is a type of liposarcoma (LS) mostly located in the limbs, with a variable behavior depending on the histological subtype. Both myxoid and round cell are distinct histological subtypes of LS." "" + "obsolete dedifferentiated liposarcoma" "" "true" + "obsolete adrenocortical carcinoma" "" "true" + "empyema" "An accumulation of pus in a body cavity, usually the pleural space." "" + "obsolete Cushing syndrome" "" "true" + "obsolete testicular seminoma" "" "true" + "" "true" + "placental villitis" "Inflammatory process that involves the chorionic villi (villitis) of the placenta." "" + "obsolete pauciarticular juvenile rheumatoid arthritis" "A type of juvenile idiopathic arthritis affecting which is a form of arthritis which affect children." "" "true" + "high output heart failure" "High-output heart failure is a heart condition that occurs when the cardiac output is higher than normal." "" + "symptomatic heart failure" "A heart failure which results in symptoms such as shortness of breath, fatigue, inability to exerciseb& etc" "" + "mild heart failure" "Heart failure characterized by mild symptoms (mild shortness of breath and/or angina) and slight limitation during ordinary activity." "" + "moderate heart failure" "Heart failure characterized by marked limitation in activity due to symptoms, even during less-than-ordinary activity, e.g. walking short distances (20b100 m). Patients with moderate heart failure are comfortable only at rest." "" + "advanced heart failure" "Patients with advanced heart failure have severe limitations, experiences symptoms even while at rest and are mostly bedbound patients." "" + "autism spectrum disorder" "A spectrum of developmental disorders that includes autism, and Asperger syndrome. Signs and symptoms include poor communication skills, defective social interactions, and repetitive behaviors." "" + "Asperger syndrome" "A disorder most often diagnosed in the pediatric years in which the individual displays marked impairment in social interaction and a repetitive, stereotyped pattern of behavior. The individual, however, displays no delay in language or cognitive development, which differentiates Asperger Syndrome from autism." "" + "autism" "Persistent deficits in social interaction and communication and interaction as well as a markedly restricted repertoire of activity and interest as well as repetitive patterns of behavior." "" + "obsolete pervasive developmental disorder - not otherwise specified" "" "true" + "central nervous system cyst" "A congenital or acquired cyst that is present in the central nervous system." "" + "obsolete unipolar depression" "" "true" + "obsolete Hashimoto's thyroiditis" "" "true" + "obsolete motor neuron disease" "" "true" + "refractory anemia" "A myelodysplastic syndrome characterized mainly by dysplasia of the erythroid series. Refractory anemia is uncommon. It is primarily a disease of older adults. The median survival exceeds 5 years. (WHO, 2001)" "" + "refractory cytopenia with multilineage dysplasia" "Refractory cytopenias with multilineage dysplasia (RCMD) is a frequent subtype of myelodysplastic syndrome (MDS) characterized by 1 or more cytopenias in the peripheral blood and dysplasia in 2 or more myeloid lineages." "" + "obsolete refractory anemia with excess blasts" "" "true" + "" "true" + "acquired idiopathic sideroblastic anemia" "Acquired idiopathic sideroblastic anaemia is one of a group of disorders known as the myelodysplastic syndromes (MDS) characterised by ineffective haemopoiesis affecting one or more blood cell lineages (myeloid, erythroid or megakaryocytic) leading to peripheral blood cytopenias and an increased risk of developing leukaemia. Acquired idiopathic sideroblastic anaemia is now more commonly referred to as refractory anaemia with ringed sideroblasts or the acronym RARS." "" + "migraine disorder" "A common, severe type of vascular headache often associated with increased sympathetic activity, resulting in nausea, vomiting, and light sensitivity." "" + "hypnic headache" "Conditions in which the primary symptom is headache and the headache cannot be attributed to any known causes." "" + "cutaneous lupus erythematosus" "An autoimmune disorder that manifests as different lupus-specific skin disorders; it can occur with systemic lupus erythematosus, or as a singular disease." "" + "multiple sclerosis" "A progressive autoimmune disorder affecting the central nervous system resulting in demyelination. Patients develop physical and cognitive impairments that correspond with the affected nerve fibers." "" + "obsolete kidney stone" "" "true" + "oral cavity neoplasm" "A neoplasm (disease) that involves the oral cavity." "" + "developmental disability" "Disorders in which there is a delay in development based on that expected for a given age level or stage of development. These impairments or disabilities originate before age 18, may be expected to continue indefinitely, and constitute a substantial impairment. Biological and nonbiological factors are involved in these disorders. (From American Psychiatric Glossary, 6th ed)" "" + "intestinal polyp" "Discrete abnormal tissue masses that protrude into the lumen of the intestine. A polyp is attached to the intestinal wall either by a stalk, pedunculus, or by a broad base." "" + "brain aneurysm" "A congenital or acquired aneurysm within the cranium." "" + "cerebral arterial disease" "Pathological conditions of intracranial arteries supplying the cerebrum. These diseases often are due to abnormalities or pathological processes in the anterior cerebral artery; middle cerebral artery; and posterior cerebral artery." "" + "flatfoot" "An anatomic deformity in which the arch of the foot collapses, resulting in the entire sole of the foot coming into complete or near-complete contact with the ground." "" + "intermittent vascular claudication" "A symptom complex characterized by pain and weakness in skeletal muscle group associated with exercise, such as leg pain and weakness brought on by walking. Such muscle limpness disappears after a brief rest and is often relates to arterial stenosis; muscle ischemia; and accumulation of lactate." "" + "urethritis" "Inflammation of the urethra." "" + "attention deficit hyperactivity disorder, inattentive type" "A mental disorder characterized by inattention, easy distraction, careless mistakes and avoidance of tasks that require sustained mental focus. These behaviors can lead to maladaptive consequences in the affected individual's life." "" + "attention deficit-hyperactivity disorder" "A disorder characterized by a marked pattern of inattention and/or hyperactivity-impulsivity that is inconsistent with developmental level and clearly interferes with functioning in at least two settings (e.g. at home and at school). When present, the symptoms of hyperactivity are most often present before the age of 7 years. There are three recognized presentations or subtypes from most to least common: combined type, inattentive/distractible type, hyperactive/impulsive type." "" + "obsolete epistaxis" "" "true" + "ankylosing spondylitis" "An autoimmune chronic inflammatory disorder characterized by inflammation in the vertebral joints of the spine and sacroiliac joints. It predominantly affects young males. Patients present with stiffness and pain in the spine." "" + "vertebral joint disorder" "A disease that involves the intervertebral joint." "" + "contracture" "Prolonged shortening of the muscle or other soft tissue around a joint, preventing movement of the joint." "" + "ciliopathy" "A genetic disorder of the cellular cilia or the cilia anchoring structures, the basal bodies, or of ciliary function." "" + "spinal fracture" "Traumatic or pathological injury to the spine in which the continuity of a vertebral bone is broken. Symptoms include back pain and difficulty bending and twisting." "" + "bone fracture" "Breaks in bones." "" + "spinal injury" "A injury that involves the vertebral column." "" + "atrial flutter" "A disorder characterized by an electrocardiographic finding of an organized, regular atrial rhythm with atrial rate of 240-340 beats per minute. Multiple P waves typically appear in the inferior leads in a saw tooth-like pattern between the QRS complexes. (CDISC)" "" + "atrial tachycardia" "A disorder characterized by an electrocardiographic finding of an organized, regular atrial rhythm with atrial rate between 101 and 240 beats per minute. The P wave morphology must be distinct from the sinus P wave morphology. (CDISC)" "" + "pouchitis" "Acute inflammation in the intestinal mucosa of the continent ileal reservoir (or pouch) in patients who have undergone ileostomy and restorative proctocolectomy (proctocolectomy, restorative)." "" + "enterocolitis" "An inflammatory process affecting the small intestine and colon. Causes include viruses, bacteria, radiation, and antibiotics use." "" + "relapsing-remitting multiple sclerosis" "The most common clinical variant of multiple sclerosis, characterized by recurrent acute exacerbations of neurologic dysfunction followed by partial or complete recovery. Common clinical manifestations include loss of visual (see optic neuritis), motor, sensory, or bladder function. Acute episodes of demyelination may occur at any site in the central nervous system, and commonly involve the optic nerves, spinal cord, brain stem, and cerebellum. (Adams et al., Principles of Neurology, 6th ed, pp903-914)" "" + "bacterial vaginosis" "Infection caused by bacterial overgrowth in the vagina. Most affected women are asymptomatic. When symptoms occur, they include foul-smelling vaginal discharge, vaginal itching, and burning. Risk factors include sexual activity with multiple partners and the use of vaginal douches and intrauterine devices. Up to a third of cases resolve without treatment. Antibiotic treatment is recommended when symptoms are present and for women that are pregnant at the time of infection." "" + "Bifidobacteriales infectious disease" "Infections with BACTERIA of the order Bifidobacteriales. This includes infections in the genera BIFIDOBACTERIUM and GARDNERELLA, in the family Bifidobacteriaceae." "" + "infective vaginitis" "An infectious process affecting the vagina. Symptoms include pain and purulent discharge." "" + "obsolete fatty liver" "" "true" + "humerus fracture" "A traumatic or pathologic injury to the humerus in which the continuity of the humerus is broken." "" + "tibia fracture" "Traumatic or pathological injury to the tibia in which the continuity of the bone is broken." "" + "Fuchs' endothelial dystrophy" "Fuchs endothelial corneal dystrophy (FECD) is the most frequent form of posterior corneal dystrophy and is characterized by excrescences on a thickened Descemet membrane (corneal guttae), generalized corneal edema, with gradually decreased visual acuity." "" + "posterior corneal dystrophy" "Posterior corneal dystrophies refers to a group of rare genetically determined corneal dystrophies (CDs) characterized by lesions affecting the corneal endothelium and Descemet membrane, and variable effects on vision depending on the type of dystrophy." "" + "ulna fracture" "Fractures of the larger bone of the forearm." "" + "sexually transmitted disease" "A Disease due to or propagated by sexual contact." "" + "seasonal allergic rhinitis" "Allergic rhinitis caused by outdoor allergens." "" + "allergic rhinitis" "Inflammation of the nasal mucous membranes caused by an IgE-mediated response to external allergens. The inflammation may also involve the mucous membranes of the sinuses, eyes, middle ear, and pharynx. Symptoms include sneezing, nasal congestion, rhinorrhea, and itching. It may lead to fatigue, drowsiness, and malaise thus causing impairment of the quality of life." "" + "radius fracture" "Traumatic or pathological injury to the radius bone in which the continuity of the bone is broken." "" + "sunburn" "An inflammatory reaction from ultraviolet radiation characterized by transient redness, tenderness and occasional blistering." "" + "hip fracture" "Traumatic or pathological injury to the hip in which the continuity of either the femoral head, femoral neck, intertrochanteric or subtrochanteric regions is broken. Symptoms include pain in the hip or groin, bruising and swelling in and around the hip area. The injured hip is turned outward and the leg appears shorter on that side." "" + "obsolete vascular sarcoma" "" "true" + "obsolete angiosarcoma" "" "true" + "obsolete acrocephalosyndactylia" "" "true" + "" "true" + "growth hormone-producing pituitary gland adenoma" "An adenoma of the anterior lobe of the pituitary gland that produces growth hormone. The vast majority of cases are hormonally functioning and are associated with either gigantism or acromegaly." "" + "hereditary nephritis" "A group of inherited conditions characterized initially by hematuria and slowly progressing to renal insufficiency. The most common form is the Alport syndrome (hereditary nephritis with hearing loss) which is caused by mutations in genes for type IV collagen and defective glomerular basement membrane." "" + "obsolete neuropathy" "" "true" + "androgenetic alopecia" "" + "endocrine alopecia" "" + "basal cell carcinoma" "A carcinoma involving the basal cells." "" + "IgA glomerulonephritis" "Inflammation of a specific segment of glomeruli within the kidney." "" + "obsolete viral human hepatitis" "" "true" + "hepatitis B virus infection" "A viral infection caused by the hepatitis B virus." "" + "Hepadnaviridae infectious disease" "Virus diseases caused by the hepadnaviridae." "" + "hypospadias" "Hypospadias is the displacement of the urethral meatus on the ventrum of the penis. This abnormality is associated with a varyingly bent, twisted penis and opened dorsal prepuce." "" + "non-syndromic urogenital tract malformation of male" "A non-syndromic urogenital tract malformation that involves the male organism." "" + "gallstones" "Solid crystalline precipitates in the biliary tract, usually formed in the gallbladder, resulting in the condition of cholelithiasis. Gallstones, derived from the bile, consist mainly of calcium, cholesterol, or bilirubin." "" + "hypertriglyceridemia" "A laboratory test result indicating elevated triglyceride concentration in the blood." "" + "keloid" "An irregularly shaped, elevated mark on the skin caused by deposits of excessive amounts of collagen during wound healing. It extends beyond the original boundaries of the wound and may enlarge progressively." "" + "otosclerosis" "Formation of spongy bone in the labyrinth capsule which can progress toward the stapes (stapedial fixation) or anteriorly toward the cochlea leading to conductive, sensorineural, or mixed hearing loss. Several genes are associated with familial otosclerosis with varied clinical signs." "" + "inherited auditory system disease" "An instance of auditory system disease that is caused by an inherited modification of the individual's genome." "" + "abdominal aortic aneurysm" "Enlargement and ballooning of the vessel that supplies arterial blood to the abdomen, pelvis and legs." "" + "anorexia nervosa" "A disorder most often seen in adolescent females characterized by a refusal to maintain a minimally normal body weight, an intense fear of gaining weight, a disturbance in body image, and, in postmenarcheal females, the development of amenorrhea." "" + "conduct disorder" "A disorder diagnosed in childhood or adolescence age group characterized by aggressive behavior, deceitfulness, destruction of property or violation of rules that is persistent and repetitive, and within a one year period." "" + "obsolete marijuana dependence" "The excessive use of marijuana with associated psychological symptoms and impairment in social or occupational functioning." "" "true" + "chronic hepatitis C virus infection" "Chronic form of hepatitis C infection." "" + "coronary restenosis" "Recurrent narrowing or constriction of a coronary artery following surgical procedures performed to alleviate a prior obstruction." "" + "coronary stenosis" "Narrowing of the coronary artery lumen diameter." "" + "coronary vasospasm" "Sudden coronary artery smooth muscle contraction leading to lumen constriction and decreased blood flow." "" + "Creutzfeldt Jacob disease" "A rare transmittable degenerative disorder of the brain caused by prions. Morphologically it is characterized by spongiform degeneration of the cerebral and cerebellar cortex. Signs and symptoms include sleep disturbances, personality changes, aphasia, ataxia, muscle atrophy and weakness, visual loss, and myoclonus. It usually leads to death within a year from the onset of the disease." "" + "viral hemorrhagic fever" "A viral infectious disease caused by RNA viruses in the Arenaviridae, Bunyaviridae, Filoviridae, or Flaviviridae family, and characterized by a severe multisystem syndrome, with damage to the vascular system and hemorrhaging." "" + "obsolete Dupuytren contracture" "" "true" + "eosinophilic esophagitis" "Eosinophilic esophagitis (EoE) is a chronic, allergic disease of the esophagus characterized clinically by symptoms of esophageal dysfunction (including vomiting, dysphagia, feeding disorders, food impaction and abdominal pain) which persist after treatment with proton pump inhibitors (PPIs)." "" + "eosinophilic gastrointestinal disease" "" + "focal segmental glomerulosclerosis" "A renal disorder characterized by sclerotic lesions in the glomeruli. Causes include drugs, viruses, and malignancies (lymphomas), or it may be idiopathic. It presents with asymptomatic proteinuria or nephritic syndrome and it may lead to renal failure." "" + "Graves disease" "Graves' disease is an autoimmune disorder that leads to overactivity of the thyroid gland (hyperthyroidism).It is caused by an abnormal immune system response that causes the thyroid gland to produce too much thyroid hormones. Graves disease is the most common cause of hyperthyroidism andoccurs mostoften in women over age 20. However, the disorder may occur at any age and may affect males as well.Treatmentmayinclude radioiodine therapy, antithyroid drugs, and/or thyroid surgery." "" + "hearing loss disorder" "A partial or complete loss of hearing in one or both ears. It is classified as conductive, sensory, or central." "" + "hearing disorder" "A disorder characterized by the partial or complete loss of the ability to detect sounds due to damage to the ear structures or inability of the brain to properly interpret or process the auditory signals it receives from the anatomic structures of the ear." "" + "chronic hepatitis B virus infection" "Chronic form of hepatitis B infection." "" + "heroin dependence" "Physical and psychological dependence on the drug heroin." "" + "opiate dependence" "Disorders related or resulting from abuse or mis-use of opioids." "" + "obsolete obsessive-compulsive disorder" "" "true" + "carcinoid tumor" "A slow growing neuroendocrine tumor, composed of uniform, round, or polygonal cells having monotonous, centrally located nuclei and small nucleoli, infrequent mitoses, and no necrosis. The tumor may show a variety of patterns, such as solid, trabecular, and acinar. Electron microscopy shows small secretory granules. Immunohistochemical studies reveal NSE, as well as chromogranin immunoreactivity. Malignant histology (cellular pleomorphism, hyperchromatic nuclei, prominent nucleoli, necrosis, and mitoses) can occasionally be seen. Such cases may have an aggressive clinical course. Gastrointestinal tract and lung are common sites of involvement." "" + "obsolete interstitial lung disease" "" "true" + "meningococcal infection" "Infections with bacteria of the species neisseria meningitidis." "" + "nasopharyngeal neoplasm" "A benign or malignant neoplasm affecting the nasopharynx. Representative examples of benign neoplasms include angiofibroma and squamous papilloma. Representative examples of malignant neoplasms include keratinizing squamous cell carcinoma and nonkeratinizing carcinoma." "" + "pharynx neoplasm" "A neoplasm (disease) that involves the pharynx." "" + "membranous glomerulonephritis" "A slowly progressive inflammation of the glomeruli characterized by immune complex deposits at the glomerular basement membrane, resulting in a thickened membrane, and nephrotic syndrome." "" + "obsolete neuromyelitis optica" "" "true" + "obsolete rare rheumatologic disease" "Any of the forms of rheumatologic disorder that have a rare incidence." "True" "true" + "bone Paget disease" "A disease of bone that initially results in the excessive resorption of bone (by osteoclasts) followed by the replacement of normal bone marrow with vascular and fibrous tissue." "" + "panic disorder" "An anxiety disorder characterized by multiple unexpected panic attacks with persistent concern of recurring attacks. Panic disorder may or may not be accompanied by agoraphobia." "" + "peripheral arterial disease" "A disorder of the arteries supplying the upper and lower extremity and the visceral organs. This includes the mesenteric arteries, the renal arteries and the aorta and excludes cerebrovascular arterial disease. Patients experience cramping and pain usually in the calves and thighs while walking. The symptoms subside with rest." "" + "primary biliary cholangitis" "Primary biliary cholangitis (PBC) is a chronic and slowly progressive cholestatic liver disease of autoimmune etiology characterized by injury of the intrahepatic bile ducts that may eventually lead to liver failure." "" + "cirrhosis, familial" "Cirrhosis in which no causative agent can be identified." "" + "obsolete sclerosing cholangitis" "" "true" + "obsolete cardiac arrhythmia" "" "true" + "restless legs syndrome" "A condition that occurs while resting or lying in bed; it is characterized by an irresistible urgency to move the legs to obtain relief from a strange and uncomfortable sensation in the legs." "" + "gout" "A condition characterized by painful swelling of the joints, which is caused by deposition of urate crystals." "" + "thoracic aortic aneurysm" "An aneurysm formed in the wall of the proximal portion of the descending aorta proceeding from the arch of the aorta." "" + "upper aerodigestive tract neoplasm" "Soft tissue tumors or cancer arising from the mucosal surfaces of the lip; oral cavity; pharynx; larynx; and cervical esophagus. Other sites included are the nose and paranasal sinuses; salivary glands; thyroid gland and parathyroid glands; and melanoma and non-melanoma skin cancers of the head and neck. (from Holland et al., Cancer Medicine, 4th ed, p1651)" "" + "venous thromboembolism" "Occlusion of the lumen of a vein by a thrombus that has migrated from a distal site via the blood stream." "" + "obsolete ventricular fibrillation" "" "true" + "obsolete neonatal systemic lupus erthematosus" "" "true" + "childhood onset asthma" "Asthma that starts in childhood." "" + "gestational diabetes" "Carbohydrate intolerance first diagnosed during pregnancy." "" + "childhood eosinophilic esophagitis" "An eosinophilic esophagitis that starts in childhood." "" + "diabetes mellitus type 2 associated cataract" "Diabetic cataracts are thought to be caused by hyperglycemia associated with disturbed glucose metabolism" "" + "obsolete variant Creutzfeld Jacob disease" "" "true" + "acute graft vs. host disease" "Graft-versus-host disease (GVHD) is a common complication following an allogeneic tissue transplant. It is commonly associated with stem cell or bone marrow transplant but the term also applies to other forms of tissue graft." "" + "graft versus host disease" "Acute graft-versus-host disease (GVHD) occurs after allogeneic hematopoietic stem cell transplant and is a reaction of donor immune cells against host tissues. Activated donor T cells damage host epithelial cells after an inflammatory cascade that begins with the preparative regimen." "" + "duodenal ulcer" "An ulcer in the duodenal wall." "" + "cystic fibrosis associated meconium ileus" "Cystic fibrosis associated meconium ileum is a thickening and congestion of the meconium in the ileum in newborns, often the first sign of cystic fibrosis. In cystic fibrosis, the meconium can form a bituminous black-green mechanical obstruction in a segment of the ileum. Beyond this there may be a few separate grey-white globular pellets. Below this level, the bowel is a narrow and empty micro-colon. Above the level of the obstruction, there are several loops of hypertrophied bowel distended with fluid. No meconium is passed, and abdominal distension and vomiting appear soon after birth. About 20% of cases of cystic fibrosis present with meconium ileus, while approximately 20% of one series of cases of meconium ileus did not have cystic fibrosis. The presence of meconium ileus is not related to the severity of the cystic fibrosis." "" + "meconium ileus" "Small intestinal obstruction that results from the impaction of thick meconium in the distal small intestine." "" + "perinatal disease" "A condition affecting an unborn or newly born individual, where the perinatal period is defined in humans as commencing at 22 completed weeks (154 days) of gestation and ending seven completed days after birth. Other, broader definitions of perinatal period cover five months before birth to one month after birth." "" + "cystic fibrosis" "Cystic fibrosis (CF) is a genetic disorder characterized by the production of sweat with a high salt content and mucus secretions with an abnormal viscosity." "" + "treatment-refractory schizophrenia" "Schizophrenia which does not respond to commonly used treatments." "" + "obsolete acute lung injury" "" "true" + "osteoarthritis, knee" "Noninflammatory degenerative disease of the knee joint consisting of three large categories: conditions that block normal synchronous movement, conditions that produce abnormal pathways of motion, and conditions that cause stress concentration resulting in changes to articular cartilage. (Crenshaw, Campbell's Operative Orthopaedics, 8th ed, p2019)" "" + "wet macular degeneration" "A form of RETINAL degeneration in which abnormal CHOROIDAL NEOVASCULARIZATION occurs under the RETINA and MACULA LUTEA, causing bleeding and leaking of fluid. This leads to bulging and or lifting of the macula and the distortion or destruction of central vision." "" + "non-compaction cardiomyopathy" "Left ventricular non-compaction (LVNC) is characterized by prominent left ventricular trabeculae and deep inter-trabecular recesses. The myocardial wall is often thickened with a thin, compacted epicardial layer and a thickened endocardial layer. In some patients, LVNC is associated with left ventricular dilatation and systolic dysfunction, which can be transient in neonates." "" + "metamphetamine dependence" "A drug dependence that is a psychological dependency on the regular use of metamphetamine." "" + "obsolete infantile hypertrophic pyloric stenosis" "" "true" + "obsolete nodular sclerosis Hodgkin lymphoma" "A distinct, highly heritable Hodgkin lymphoma subtype." "" "true" + "obsolete pelvic organ prolapse" "" "true" + "elephantiasis" "Enlargement of an area of the body due to obstruction within the lymphatic system and the resulting accumulation of lymph." "" + "lymphedema" "Excess fluid collection in tissues, causing swelling. It is the result of obstruction of lymphatic vessels or lymph nodes." "" + "podoconiosis" "A disease of the lymphatic vessels of the lower extremities that is caused by chronic exposure to irritant soils." "" + "MRI defined brain infarct" "An infarct detected by MRI and not determined to be clinically significant" "" + "obsolete vasuclar dementia" "" "true" + "obsolete pemphigus vulgaris" "" "true" + "early onset hypertension" "A form of hypertension with early onset relative to normal range for a given population." "" + "obsolete toxic epidermal necrolysis" "" "true" + "alcohol and nicotine codependence" "A drug dependence that is the physiological result of being addicted to alcohol and nicotine." "" + "alcohol withdrawal" "" + "substance withdrawal syndrome" "A substance-specific organic brain syndrome that follows the discontinuation of administration or use, or reduction in intake of an addictive substance, e.g. opioids, barbiturates and alcohol; amphetamines or similarly acting sympathomimetics; cocaine; nicotine; sedatives, hypnotics, or anxiolytics. Syndrome manifests with diverse, often painful physical and psychological symptoms, which include but not limited to intense drug craving, anxiety, depression, insomnia, nausea, perspiration, body aches, tremors, hallucinations, and convulsions." "" + "skin sensitivity to sun" "The response of human skin to sun exposure." "" + "photosensitivity disease" "Abnormal responses to sunlight or artificial light due to extreme reactivity of light-absorbing molecules in tissues. It refers almost exclusively to skin photosensitivity, including sunburn, reactions due to repeated prolonged exposure in the absence of photosensitizing factors, and reactions requiring photosensitizing factors such as photosensitizing agents and certain diseases. With restricted reference to skin tissue, it does not include photosensitivity of the eye to light, as in photophobia or photosensitive epilepsy." "" + "anti-neutrophil antibody associated vasculitis" "Group of systemic vasculitis with a strong association with ANCA. The disorders are characterized by necrotizing inflammation of small and medium size vessels, with little or no immune-complex deposits in vessel walls." "" + "postoperative ventricular dysfunction" "Postoperative ventricular dysfunction (VnD) occurs in 9-20% of coronary artery bypass graft (CABG) surgical patients and is associated with increased postoperative morbidity and mortality." "" + "testicular dysgenesis syndrome" "A syndrome comprising testicular germ cell cancer, cryptorchidism and some cases of hypospadias and male infertility with impaired development of the testis." "" + "metastatic malignant neoplasm in the lymph nodes" "The spread of a malignant neoplasm to the lymph nodes." "" + "familial hypercholesterolemia" "An inheritable form of hyperlipidemia, in which there are excess lipids in the blood." "" + "hyperlipoproteinemia" "An elevated concentration of lipoproteins." "" + "obsolete type 1 diabetes nephropathy" "" "true" + "obsolete type 2 diabetes nephropathy" "" "true" + "obsolete leishmaniasis" "" "true" + "visceral leishmaniasis" "A severe form of leishmaniasis characterized by irregular bouts of fever, substantial weight loss, swelling of the spleen and liver, and anaemia (which may be serious). If left untreated it may lead to death. Two species of Leishmania are known to give rise to the visceral form of the disease. The species commonly found in East Africa and the Indian subcontinent is L. donovani and the species found in Europe, North Africa, and Latin America is L. infantum, also known as L. chagasi." "" + "leishmaniasis" "Infectious disease that is transmitted through the bite of hematophagous female phlebotomine sand flies. The clinical spectrum ranges from asymptomatic to clinically overt disease which can remain localized to the skin or disseminate to the upper oral and respiratory mucous membranes or throughout the reticulo-endothelial system. Three main clinical syndromes have been described: visceral (or Kala-Azar; with fever, weight loss, hepatosplenomegaly), cutaneous, and mucocutaneous leishmaniasis (cutaneous or mucocutaneous ulceration)." "" + "cutaneous leishmaniasis" "Leishmaniasis affecting the skin. It is the most common form of leishmaniasis. It presents with erythematous macules and papules, and nodules which may eventually ulcerate. The lesions appear in the bite site in the exposed skin areas." "" + "hepatitis C induced liver cirrhosis" "Liver injury resulting from hepatitis C infection." "" + "obsolete autoimmune disease" "" "true" + "bulimia nervosa" "A disorder characterized by recurrent episodes of binge-eating over which the individual feels a lack of control; these episodes of binge-eating are followed by recurrent compensatory behavior to prevent weight gain, usually self-induced vomiting. In addition, self-evaluation is unduly influenced by body image." "" + "obsolete cholangiocarcinoma" "" "true" + "obsolete avian influenza" "" "true" + "obsolete acute stress reaction" "" "true" + "obsolete q fever" "" "true" + "human African trypanosomiasis" "A parasitic disorder caused by protozoa of the Trypanosoma brucei species. It is transmitted by flies and is endemic in various regions of Sub-Saharan Africa. Signs and symptoms include fever, joint pain, headache, and significant swelling of the lymph nodes. If left untreated, the parasitic infection causes anemia, heart, kidney, and endocrine failure, and neurologic damage. Subsequently patients develop confusion, disruption of the sleep cycle, and mental deterioration. The infection may lead to coma and death." "" + "swine influenza" "An acute viral respiratory infection caused by a strain of influenza virus which is endemic in swine (pigs). Rarely reported in humans prior to 2009, the disease is caused by a mutated strain of swine influenza A (H1N1) virus. It is highly contagious and spreads mainly through coughing and sneezing. Signs and symptoms include fever, chills, coughing, sore throat headache, muscle ache, and generalized weakness. Antiviral medications are most effective in the first two days of the illness." "" + "influenza" "An acute viral infection of the respiratory tract, occurring in isolated cases, in epidemics, or in pandemics; it is caused by serologically different strains of viruses (influenzaviruses) designated A, B, and C, has a 3-day incubation period, and usually lasts for 3 to 10 days. It is marked by inflammation of the nasal mucosa, pharynx, and conjunctiva; headache; myalgia; often fever, chills, and prostration; and occasionally involvement of the myocardium or central nervous system." "" + "embryonal tumor of neuroepithelial tissue" "" + "aortic valve calcification" "Calcification of the aortic valve" "" + "rhegmatogenous retinal detachment" "Retinal detachment secondary to retinal tear or break." "" + "methamphetamine-induced psychosis" "Abnormal mental state resulting from an abuse of methamphetamine" "" + "hypersomnia" "A sleep disorder characterized by excessive sleepiness." "" + "occupation-related stress disorder" "The response people may have when presented with work demands and pressures that are not matched to their knowledge and abilities and which challenge their ability to cope." "" + "occupational disorder" "Any disorder that is realized in response to an exposure to occupation." "" + "orthostatic hypotension" "Sudden fall of the blood pressure of at least 20/10 mm Hg when a person stands up." "" + "postprandial hypotension" "Drastic decline in blood pressure which happens after eating a meal and most likely due to insufficient compensation in cardiac output by the autonomic nervous sytem for the diversion of blood to the intestines." "" + "neurally mediated hypotension" "Neurally mediated hypotension is a sudden drop in blood pressure while an individual stands up. It occurs when there is an abnormal reflex interaction between the heart and the brain, both of which usually are structurally normal" "" + "obsolete congenital heart malformation" "" "true" + "temporomandibular joint disorder" "Any condition affecting the anatomic and functional characteristics of the temporomandibular joint." "" + "obsolete non-small cell lung adenocarcinoma" "" "true" + "migraine with aura" "A migraine disorder characterized by episodes that are preceded by focal neurological symptoms." "" + "atrioventricular node disorder" "A disease involving the atrioventricular node." "" + "ventricular tachycardia" "A disorder characterized by an electrocardiographic finding of three or more consecutive complexes of ventricular origin with a rate greater than a certain threshold (100 or 120 beats per minute are commonly used). The QRS complexes are wide and have an abnormal morphology. (CDISC)" "" + "contact dermatitis" "An inflammatory skin condition caused by direct contact between the skin and either an irritating substance or an allergen." "" + "contact dermatitis due to nickel" "A form of allergic contact dermatitis that results from exposure to nickel" "" + "molar-incisor hypomineralization" "A hypomineralisation of systemic origin of one to four permanent first molars frequently associated with affected incisors" "" + "chemotherapy-induced alopecia" "Hair loss as a result of chemotherapy treatment." "" + "digestive system adenoma" "A sporadic or less frequently familial neoplasm, arising from the glandular epithelium of the stomach, small intestine, biliary tract, colon, and rectum. It is a polypoid or flat circumscribed lesion. Morphologically, it is characterized by a proliferation of neoplastic glandular cells and it is associated with dysplasia. According to the growth pattern, it may be classified as tubular, villous, or tubulovillous. The dysplasia is classified as mild, moderate, or severe. The frequency of malignant transformation depends on the size of the lesion and the degree of dysplasia. Larger adenomas with severe dysplastic changes (sometimes called carcinoma in situ) carry a higher risk of progressing to invasive adenocarcinoma. Gastrointestinal adenomas may present as solitary or multifocal lesions. Familial adenomas tend to be multifocal and carry a higher risk of malignant transformation." "" + "tooth agenesis" "A rare developmental dental anomaly in humans characterized by the absence of six or more teeth." "" + "schizoaffective disorder" "A disorder in which the individual suffers from both symptoms that qualify as schizophrenia and symptoms that qualify as a mood disorder (e.g., depression or bipolar disorder) for a substantial portion (but not all) of the active period of the illness; for the remainder of the active period of the illness, the individual suffers from delusions or hallucinations in the absence of prominent mood symptoms." "" + "adolescent idiopathic scoliosis" "A scoliosis with no known cause arising in adolescent." "" + "dyslexia" "A learning disorder characterized by an impairment in processing written words. Reading difficulties can include distortions, omissions or substitutions of characters. Oral and silent reading difficulties can include faulty and slow comprehension." "" + "large artery stroke" "Stroke caused by the blockage of blood flow in one of the large arteries feeding the brain." "" + "Chagas cardiomyopathy" "A disease of the cardiac muscle developed subsequent to the initial protozoan infection by trypanosoma cruzi. After infection, less than 10% develop acute illness such as myocarditis (mostly in children). The disease then enters a latent phase without clinical symptoms until about 20 years later. Myocardial symptoms of advanced chagas disease include conduction defects (heart block) and cardiomegaly." "" + "urticaria" "A vascular reaction of the skin characterized by erythema and wheal formation due to localized increase of vascular permeability. The causative mechanism may be allergy, infection, or stress." "" + "delayed encephalopathy after acute carbon monoxide poisoning" "Anoxic encephalopathy resulting from acute CO intoxication, developing within 2-6 weeks of the poisoning event" "" + "estrogen-receptor negative breast cancer" "A subtype of breast cancer that is estrogen-receptor negative" "" + "botulism" "A serious bacterial infection caused by botulinum toxin which is produced by Clostridium botulinum. Patients are infected usually by ingestion of contaminated food or wound contamination. It leads to muscle paralysis which may result in respiratory failure." "" + "acquired neuromuscular junction disease" "An instance of neuromuscular junction disease that is acquired during the lifetime of the individual." "" + "Clostridium infectious disease" "Infections with bacteria of the genus clostridium." "" + "congenital disorder of glycosylation type I" "A congenital disorder of glycosylation involve disrupted synthesis of the lipid-linked oligosaccharide precursor." "" + "congenital disorder of glycosylation" "Congenital disorder of glycosylation (CDG) is a fast growing group of inborn errors of metabolism characterized by defective activity of enzymes that participate in glycosylation (modification of proteins and other macromolecules by adding and processing of oligosaccharide side chains). CDG is comprised of phenotypically diverse disorders affecting multiple systems including the central nervous system, muscle function, immunity, endocrine system, and coagulation. The numerous entities in this group are subdivided, based on the synthetic pathway affected, into disorder of protein N-glycosylation, disorder of protein O-glycosylation, disorder of multiple glycosylation, and disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation." "" + "congenital disorder of glycosylation type II" "A congenital disorder of glycosylation that involves malfunctioning trimming/processing of the protein-bound oligosaccharide chain." "" + "arbovirus fever" "Arbovirosis are polymorphic diseases caused by arboviruses and are classically characterized by encephalitis and hemorrhage, however, most commonly only aspecific fever is observed." "" + "diphtheria" "A Gram-positive bacterial infection caused by Corynebacterium diphtheriae. It usually involves the oral cavity, pharynx, and nasal cavity. Patients develop pseudomembranes in the affected areas and manifest signs and symptoms of an upper respiratory infection. The diphtheria toxin may cause myocarditis, polyneuritis, and other systemic effects." "" + "dysembryoplastic neuroepithelial tumor" "A benign glial-neuronal neoplasm. It is usually supratentorial, located, generally, in the cortex and occurs in children and young adults with a long-standing history of partial seizures. A histologic hallmark of this tumor is the 'specific glioneuronal element', characterized by columns, made up of bundles of axons, oriented perpendicularly to the cortical surface.B" "" + "gingival neoplasm" "A benign or malignant neoplasm that affects the upper or lower gingiva." "" + "hereditary multiple osteochondromas" "A bone neoplasm characterised by development of two or more cartilage capped bony outgrowths (osteochondromas) of the long bones." "" + "disorder of O-xylosylglycan synthesis" "" + "congenital disorder of glycosylation-related bone disorder" "" + "hydronephrosis" "Collection of urine in the renal pelvis that results in dilatation of the renal pelvis and calyces. It is caused by obstruction of urine flow, nephrolithiasis, or vesicoureteral reflux. Signs and symptoms include flank pain, nausea, vomiting, fever, and dysuria." "" + "janus kinase-3 deficiency" "Deficiency of janus kinase-3 causing the near absence of T lymphocytes and Natural killer cells; and normal or elevated B lymphocytes due to an autosomal recessive variant of severe combined immunodeficiency." "" + "malignant peritoneal mesothelioma" "An aggressive malignant mesothelioma that arises from the peritoneum. Patients usually present with abdominal pain and ascites." "" + "obsolete methylmalonic aciduria and homocystinuria type cblE" "" "true" + "nanophthalmia" "Nanophthalmia is a severe form of microphthalmia characterized by a small eye with a short axial length, severe hyperopia, an elevated lens/eye ratio, and a high incidence of angle-closure glaucoma." "" + "malignant tumor of neck" "A cancer that involves the neck." "" + "pseudohermaphroditism" "A condition consisting of possessing the internal reproductive organs of one sex while exhibiting some of the secondary sex characteristics of the opposite sex." "" + "indeterminate sex and/or pseudohermaphroditism" "" + "malignant renal pelvis neoplasm" "A primary or metastatic malignant neoplasm that affects the renal pelvis." "" + "rickets" "Bone softening and weakening usually caused by deficiency or impaired metabolism of vitamin D. Deficiency of calcium, magnesium, or phosphorus may also cause rickets. It predominantly affects children who suffer from severe malnutrition. It manifests with bone pain, fractures, muscle weakness, and skeletal deformities." "" + "obsolete shigellosis" "" "true" + "steroid inherited metabolic disorder" "Errors in metabolic processing of steroids resulting from inborn genetic mutations that are inherited or acquired in utero." "" + "toxic encephalopathy" "A group of neurologic disorders caused by damage to the nervous system following exposure to pharmacologic, biologic, and chemical agents. Examples of neurotoxins include chemotherapy agents, radiation treatment, heavy metals, pesticides, and food additives." "" + "obsolete methylmalonic aciduria and homocystinuria type cblG" "" "true" + "morphine dependence" "Strong dependence, both physiological and emotional, upon morphine." "" + "Crohn's colitis" "Crohn's disease affecting the colon." "" + "distal colitis" "Particular variety of ulcerative colitis where only the left half of the colon is inflamed." "" + "ileocolitis" "Ileocolitis or ileal Crohn's is the most common type of Crohn's disease. It affects both the ileum (small intestine) and the colon." "" + "oral Crohn disease" "Crohn's disease affecting the mouth." "" + "pancolitis" "Ulcerative colitis that involves the entire colon." "" + "perianal Crohn disease" "An Crohn disease involving a pathogenic inflammatory response in the anal canal." "" + "proctitis" "An inflammatory process affecting the anus. It is usually caused by sexually transmitted infectious agents and/or inflammatory bowel disease." "" + "obsolete rectal adenocarcinoma" "" "true" + "spondylolysis" "A defect in the pars interarticularis of a vertebral bone." "" + "acute coronary syndrome" "Signs and symptoms related to acute ischemia of the myocardium secondary to coronary artery disease. The clinical presentation covers a spectrum of heart diseases from unstable angina to myocardial infarction." "" + "myocardial ischemia" "A disorder of cardiac function caused by insufficient blood flow to the muscle tissue of the heart. The decreased blood flow may be due to narrowing of the coronary arteries (coronary artery disease), to obstruction by a thrombus (coronary thrombosis), or less commonly, to diffuse narrowing of arterioles and other small vessels within the heart. Severe interruption of the blood supply to the myocardial tissue may result in necrosis of cardiac muscle (myocardial infarction)." "" + "autoimmune hepatitis type 1" "Autoimmune hepatitis characterized by the presence of antinuclear antibody (ANA) and antismooth-muscle antibody (ASMA)." "" + "autoimmune hepatitis" "Hepatitis caused by autoantibodies. Drugs, infections, and toxins may trigger the production of the autoantibodies against the liver parenchyma." "" + "hippocampal sclerosis of aging" "Age-related neuropathological condition with severe neuronal cell loss and gliosis in the hippocampus" "" + "staphylococcal infection" "An infection caused by Staphylococcus." "" + "fibromyalgia" "A chronic disorder of unknown etiology characterized by pain, stiffness, and tenderness in the muscles of neck, shoulders, back, hips, arms, and legs. Other signs and symptoms include headaches, fatigue, sleep disturbances, and painful menstruation." "" + "chronic pain syndrome" "Chronic form of disorder involving pain." "" + "obsolete desmoplastic medulloblastoma" "" "true" + "obsolete malignant rhabdoid tumour" "" "true" + "infectious disease or post-infectious disorder" "A disease or disorder that result from the presence and activity of a microbial, viral, fungal or parasitic agent, or a disorder that follows infection with an infectious agent but is distinct from the usual manifestations of the infection itself." "" + "autoinflammatory syndrome" "A group of disorders of the innate immune system characterized by attacks of seemingly unprovoked inflammation without significant levels of either autoantibodies or autoreactive T cells more characteristic of autoimmune disease." "" + "obsolete parathyroid disease" "" "true" + "cycloplegia" "Cycloplegia is paralysis of the ciliary muscle of the eye, resulting in a loss of accommodation." "" + "lupus nephritis" "Glomerulonephritis in the context of systemic lupus erythematosus." "" + "systemic lupus erythematosus" "An autoimmune multi-organ disease typically associated with vasculopathy and autoantibody production. Most patients have antinuclear antibodies (ANA). The presence of anti-dsDNA or anti-Smith antibodies are highly-specific." "" + "autoimmune glomerulonephritis" "An autoimmune form of glomerulonephritis (disease)." "" + "age-related hearing impairment" "Age-related hearing impairment is characterized by a symmetric sensorineural hearing loss that is most pronounced in the high frequencies. Age of onset, progression, and severity of age-related hearing impairment (ARHI) show great variation in the population, but with a demonstrable increased prevalence in males." "" + "sensorineural hearing loss disorder" "Hearing loss in which the root cause lies in the inner ear or sensory organ (cochlea and associated structures) or the vestibulocochlear nerve (cranial nerve VIII)." "" + "nut midline carcinoma" "A rare, highly aggressive and lethal carcinoma that affects children and young adults. It arises from midline epithelial structures, most commonly the head, neck, and mediastinum. It is a poorly differentiated carcinoma and is characterized by mutations and rearrangement of the NUT gene. A balanced translocation t(15;19) is present that results in the creation of a fusion gene involving the NUT gene, most commonly BRD4-NUT fusion gene." "" + "undifferentiated carcinoma" "A usually aggressive malignant epithelial neoplasm composed of atypical cells which do not display evidence of glandular, squamous, or transitional cell differentiation." "" + "blastoma" "A malignant neoplasm composed of undifferentiated cells." "" + "neonatal abstinence syndrome" "A constellation of neurobehavioral features observed in a neonate following antenatal exposure to drugs including opioids, benzodiazepines, and selective serotonin reuptake inhibitors." "" + "obsolete cartilage disease" "Softening and degeneration of the CARTILAGE. Pathological processes involving the chondral tissue (CARTILAGE)." "" "true" + "polycythemia due to hypoxia" "Polycythemia resulting from hypoxia." "" + "obsolete type II hypersensitivity reaction disease" "" "true" + "cryoglobulinemia" "Cryoglobulinemia is a type of vasculitis that is caused by abnormal proteins (antibodies) in the blood called 'cryoglobulins.' At cold temperatures, these proteins become solid or gel-like, which can block blood vessels and cause a variety of health problems. Many people affected by this condition will not experience any unusual signs or symptoms. When present, symptoms vary but may include breathing problems; fatigue; glomerulonephritis ; joint or muscle pain; purpura ; Raynaud's phenomenon ; skin death; and/or skin ulcers. In some cases, the exact underlying cause is unknown; however, cryoglobulinemia can be associated with a variety of conditions including certain types of infection; chronic inflammatory diseases (such as autoimmune disease); and/or cancers of the blood or immune system. Treatment varies based on the severity of the condition, the symptoms present in each person and the underlying cause." "" + "obsolete narcolepsy without cataplexy" "" "true" + "epilepsy, idiopathic generalized" "A chronic condition characterised by recurrent generalised seizures." "" + "AVL induced bursal lymphoma" "Malignant lymphoma of the bursa of Fabricius, induced by avian leukosis virus occuring in birds." "" + "binge eating disorder" "Recurrent episodes of over-eating." "" + "congenital heart malformation" "A disease that has its basis in the disruption of heart development." "" + "chemotherapy-induced hypertension" "A form of hypertension that occurs as a direct result of chemotherapy treatment" "" + "obsolete non-Hodgkins lymphoma" "" "true" + "chemotherapy-induced oral mucositis" "Inflammation and ulceration of the oral mucosa as a result of chemotherapy treatment." "" + "thiopurine immunosuppressant-induced pancreatitis" "Pancreatits that is the result of treatment with thiopurine immunosuppressants such as azathioprine or mercaptopurine." "" + "pit and fissure surface dental caries" "" + "smooth surface dental caries" "" + "severe cutaneous adverse reaction" "A permanent mark left on the skin in the process of wound healing." "" + "obsolete rare otorhinolaryngologic tumor" "True" "true" + "cystic renal cell carcinoma" "Cystic renal cell carcinoma includes any malignant neoplasm of renal tubular epithelium which presents as a fluid-filled mass. Approximately 15 per cent of cases of renal cell carcinoma will be cystic on radiologic and pathologic examination. The clinical features of cystic renal cell carcinoma are similar to those which are solid. The radiographic and pathologic findings of cystic renal cell carcinoma are often more confusing and less specific than the findings of renal cell carcinoma which are predominantly solid. There are four basic pathologic mechanisms resulting in cystic renal cell carcinoma: intrinsic multiloculated growth; intrinsic unilocular growth (cystadenocarcinoma); cystic necrosis; and origin from the epithelial lining of a preexisting simple cyst. There are three basic radiologic patterns of cystic renal cell carcinoma: unilocular cystic mass, multiloculated cystic mass, and discrete mural nodule in a cystic mass. Cystic renal cell carcinoma is often extremely difficult to differentiate from non-neoplastic, benign neoplastic, and other malignant neoplastic masses utilizing radiologic studies alone. This review presents the clinical, pathologic, and radiographic features of cystic renal cell carcinoma and discusses its radiologic differential diagnosis." "" + "dopaminergic neuroblastoma" "A neuroblastoma associated with increased dopamine excretion." "" + "malignant epithelioid mesothelioma" "A malignant neoplasm arising from mesothelial cells in the pleura. It is characterized by the presence of neoplastic cells with an epithelioid appearance. In the majority of cases, the neoplastic epithelioid cells lack significant cytologic atypia; mitotic figures are infrequently seen. In a minority of cases, the neoplastic cells are poorly differentiated and there is evidence of nuclear atypia and increased mitotic activity." "" + "obsolete ovarian adenocarcinoma" "" "true" + "gonadal teratoma" "A teratoma that arises from the testis or ovary." "" + "pancreatic tubular adenocarcinoma" "A tubular adenocarcinoma that involves the pancreas." "" + "obsolete plasma cell leukemia" "" "true" + "chronic bronchitis" "A type of chronic obstructive pulmonary disease characterized by chronic inflammation in the bronchial tree that results in edema, mucus production, obstruction, and reduced airflow to and from the lung alveoli. The most common cause is tobacco smoking. Signs and symptoms include coughing with excessive mucus production, and shortness of breath." "" + "varicella zoster infection" "A highly contagious viral infection caused by the varicella zoster virus. Clinically, it may be manifested as shingles or chicken pox." "" + "herpes zoster" "A common dermal and neurologic disorder caused by reactivation of the varicella-zoster virus that has remained dormant within dorsal root ganglia, often for decades, after the patient's initial exposure to the virus in the form of varicella (chickenpox). It is characterized by severe neuralgic pain along the distribution of the affected nerve and crops of clustered vesicles over the area." "" + "disease arising from reactivation of latent virus" "An infectious disease that arises from reactivation of a virus from a latent phase to a lytic phase." "" + "post-infectious neuralgia" "" + "Kashin-Beck disease" "Disabling osteochondrodysplasia with osteosclerosis, cone-shaped metaphysis, and shortening of the diaphysis. It is endemic in parts of Siberia and northern China. Mineral deficiencies (e.g., selenium, iodine), fungal cereal contamination, and water contamination may be contributing factors in its etiology." "" + "obsolete ovarian leiomyosarcoma" "" "true" + "pancreatic adenosquamous carcinoma" "A carcinoma that arises from the pancreas showing both ductal and squamous differentiation. The squamous component should represent at least 30% of the malignant cellular infiltrate. The prognosis is usually worse than that of ductal adenocarcinoma." "" + "squamous cell carcinoma of pancreas" "A squamous cell carcinoma that involves the pancreas." "" + "typhoid fever" "A bacterial infectious disorder contracted by consumption of food or drink contaminated with Salmonella typhi. This disorder is common in developing countries and can be treated with antibiotics." "" + "cerebral amyloid angiopathy" "Hereditary cerebral hemorrhage with amyloidosis (HCHWA) describes a group of rare familial central nervous system disorders characterized by amyloid deposition in the cerebral blood vessels leading to hemorrhagic and non-hemorrhagic strokes, focal neurological deficits, and progressive cognitive decline eventually leading to dementia." "" + "hereditary amyloidosis" "Hereditary amyloidosis refers to a group of inherited conditions that make up one of the subtypes of amyloidosis. Hereditary amyloidosisis characterized by the deposit of an abnormal protein called amyloid in multiple organs of the body where it should not be, which causes disruption of organ tissue structure and function. In hereditary amyloidosis, amyloid deposits most often occur in tissues of the heart, kidneys, and nervous system. While symptoms of hereditary amyloidosis may appear in childhood, most individuals do not experience symptoms until adulthood. There are many types of hereditary amyloidosis associated with different gene mutations and abnormal proteins. The most common type of hereditary amyloidosis is transthyretin amyloidosis (ATTR),a condition in which the amyloid deposits are most often made up of the transthyretin protein which is made in the liver. Other examplesof hereditary amyloidosis include, but are not limited to, apolipoprotein AI amyloidosis (A ApoAI), gelsolin amyloidosis (A Gel), lysozyme amyloidosis (A Lys), cystatin C amyloidosis (A Cys), fibrinogen Aα-chain amyloidosis (A Fib), and apolipoprotein AII amyloidosis (A ApoAII). Most types of hereditary amyloidosis are inherited in an autosomal dominant manner. Treatment is focused on addressing symptoms of organ damage and slowing down the production of amyloid when possible through methods such as liver transplants." "" + "genetic cerebral small vessel disease" "" + "metabolic disease with dementia" "True" + "cerebrovascular dementia" "" + "vascular brain injury" "Damage to the blood vessels of the brain" "" + "brain injury" "Acute and chronic (see also brain INJURIES, CHRONIC) injuries to the brain, including the cerebral hemispheres, CEREBELLUM, and brain STEM. Clinical manifestations depend on the nature of injury. Diffuse trauma to the brain is frequently associated with DIFFUSE AXONAL INJURY or COMA, POST-TRAUMATIC. Localized injuries may be associated with NEUROBEHAVIORAL MANIFESTATIONS; HEMIPARESIS, or other focal neurologic deficits." "" + "obsolete vasculitis" "" "true" + "atrophic thyroiditis" "Atrophic thyroiditis is an organ-specific autoimmune disease characterized by thyroid autoantibodies, functional hypothyroidism, and absence of goiter." "" + "cerebral malaria" "A sequestration of Plasmodium falciparum in the brain, which can cause coma and/or seizures." "" + "male breast carcinoma" "A malignant neoplasm involving the male breast." "" + "Acanthamoeba keratitis" "Keratitis due to infection by acanthamoeba; it is usually associated with soft contact lens wear, particularly overnight wear." "" + "parasitic endophthalmitis" "Infection of the epicondyles by a parasite." "" + "actinobacillosis" "A disease characterized by suppurative and granulomatous lesions in the respiratory tract, upper alimentary tract, skin, kidneys, joints, and other tissues. Actinobacillus lignieresii infects cattle and sheep while A. equuli infects horses and pigs." "" + "Actinobacillus infectious disease" "Infections with bacteria of the genus actinobacillus." "" + "Actinomycetales infectious disease" "Infections with bacteria of the order actinomycetales." "" + "acute chest syndrome" "A vaso-occlusive crisis of the pulmonary vasculature occurring in patients with sickle cell disease. It is characterized by the presence of a new radiodensity on a chest radiograph accompanied by fever, cough, sputum production, dyspnea, or hypoxia." "" + "sickle cell anemia" "Sickle cell anemias are chronic hemolytic diseases that may induce three types of acute accidents: severe anemia, severe bacterial infections, and ischemic vasoocclusive accidents (VOA) caused by sickle-shaped red blood cells obstructing small blood vessels and capillaries. Many diverse complications can occur." "" + "obsolete acute disseminated encephalomyelitis" "" "true" + "acute hemorrhagic conjunctivitis" "Acute conjunctivitis that is characterized by bleeding into the conjunctiva." "" + "obsolete adult-onset Still disease" "" "true" + "AIDS related complex" "A prodromal phase of infection with the human immunodeficiency virus (HIV). Laboratory criteria separating aids-related complex (ARC) from aids include elevated or hyperactive B-cell humoral immune responses, compared to depressed or normal antibody reactivity in aids; follicular or mixed hyperplasia in arc lymph nodes, leading to lymphocyte degeneration and depletion more typical of aids; evolving succession of histopathological lesions such as localization of Kaposi's sarcoma, signaling the transition to the full-blown aids." "" + "akinetic mutism" "A syndrome characterized by a silent and inert state without voluntary motor activity despite preserved sensorimotor pathways and vigilance. Bilateral frontal lobe dysfunction involving the anterior cingulate gyrus and related brain injuries are associated with this condition. This may result in impaired abilities to communicate and initiate motor activities. (From Adams et al., Principles of Neurology, 6th ed, p348; Fortschr Neurol Psychiatr 1995 Feb;63(2):59-67)" "" + "aleutian mink disease" "A slow progressive disease of mink caused by the aleutian mink disease virus. It is characterized by poor reproduction, weight loss, autoimmunity, hypergammaglobulinemia, increased susceptibility to bacterial infections, and death from renal failure. The disease occurs in all color types, but mink which are homozygous recessive for the Aleutian gene for light coat color are particularly susceptible." "" + "Parvoviridae infectious disease" "Virus infections caused by the parvoviridae." "" + "Togaviridae infectious disease" "Virus diseases caused by the togaviridae." "" + "amebiasis" "A parasitic infectious disorder caused by amoebas. The parasite may cause colitis which is manifested with bloody diarrhea, abdominal pain, nausea and fever. In rare cases it may spread to the liver, brain and lungs." "" + "ancylostomiasis" "Infection by hookworms of the genus Ancylostoma." "" + "Strongylida infectious disease" "Infections with nematodes of the order strongylida." "" + "obsolete anisakiasis" "" "true" + "anogenital human papillomavirus infection" "A sexually transmitted papillary growth caused by the human papillomavirus. It usually arises in the skin and mucous membranes of the perianal region and external genitalia." "" + "aortic valve insufficiency" "Dysfunction of the aortic valve characterized by incomplete valve closure." "" + "appendicitis" "Acute inflammation of the vermiform appendix." "" + "arenavirus hemorrhagic fever" "A viral infectious disease that involves fever and bleeding disorder caused by Arenavirus." "" + "Arterivirus infectious disease" "Infections caused by viruses of the family arteriviridae." "" + "Nidovirales infectious disease" "Infections with viruses of the order nidovirales. The concept includes arterivirus infections and coronaviridae infections." "" + "obsolete asbestosis" "" "true" + "ascariasis" "An infection that is caused by the roundworm Ascaris lumbricoides, many cases of which remain asymptomatic. During the transient larval migratory phase, shortness of breath, fever, and eosinophilia can occur. Depending on the intestinal worm burden, a spectrum of gastrointestinal tract symptoms can occur." "" + "ascaridiasis" "Infection with nematodes of the genus ascaridia. This condition usually occurs in fowl, often manifesting diarrhea." "" + "Astroviridae infectious disease" "Infections with astrovirus, causing gastroenteritis in human infants, calves, lambs, and piglets." "" + "atrophic rhinitis" "A chronic inflammation in which the nasal mucosa gradually changes from a functional to a non-functional lining without mucociliary clearance. It is often accompanied by degradation of the bony turbinates, and the foul-smelling mucus which forms a greenish crust (ozena)." "" + "Avulavirus infectious disease" "Infections with viruses of the genus avulavirus, family paramyxoviridae. This includes newcastle disease and other infections of domestic fowl." "" + "babesiosis" "Babesiosis refers to a condition caused by microscopic parasites that infect the red blood cells. Many people who are infected with Babesia parasites do not experience any symptoms of the condition. When present, signs and symptoms may include flu-like symptoms such as fever, chills, headache, body aches, nausea and fatigue. In severe cases, babesiosis can be associated with hemolytic anemia. Babesia parasites are primarily spread by infected ticks. Treatment is generally only required in people who develop symptoms of the condition. When necessary, affected people are often prescribed a combination of antimicrobial medications along with supportive care to manage symptoms." "" + "balantidiasis" "Infection by parasites of the genus balantidium. The presence of Balantidium in the large intestine leads to diarrhea; dysentery; and occasionally ulcer." "" + "Ciliophora infectious disease" "Infections with protozoa of the phylum ciliophora." "" + "Barre-Lieou syndrome" "A neurologic syndrome following injury of the spinal sympathetic nerves of the neck. The injury usually results from arthritis or pinching by the adjacent vertebrae. Symptoms include facial pain, chronic allergies, dizziness, neck pain, ear pain and vertigo." "" + "Bartonellaceae infectious disease" "Infections with bacteria of the family bartonellaceae." "" + "Bell's palsy" "Partial or complete paralysis of the facial muscles of one side of a person's face. It is caused by damage to the seventh cranial nerve. It is usually temporary but it may recur." "" + "obsolete berylliosis" "" "true" + "biliary dyskinesia" "A motility disorder characterized by biliary colic, absence of gallstones, and an abnormal gallbladder ejection fraction. It is caused by gallbladder dyskinesia and/or sphincter of oddi dysfunction." "" + "bird fancier's lung" "Hypersensitivity granulomatous pneumonitis caused by the inhalation of avian antigens that are present in the dust of the droppings and feathers of many species of birds. In the acute phase it manifests as fever, chills, dyspnea, cough, and chest tightness. Chronic exposure may lead to interstitial lung fibrosis." "" + "black piedra" "A superficial mycosis that is caused by Piedraia hortae and is manifested by a small firm black nodule involving the hair shaft." "" + "blackwater fever" "A complication of malaria resulting from hemolysis." "" + "Blastocystis infectious disease" "Infections with organisms of the genus blastocystis. The species B. hominis is responsible for most infections. Parasitologic surveys have generally found small numbers of this species in human stools, but higher positivity rates and organism numbers in aids patients and other immunosuppressed patients (immunocompromised host). Symptoms include abdominal pain; diarrhea; constipation; vomiting; and fatigue." "" + "blastomycosis" "Blastomycosis is a rare infection that may develop when people inhale a fungus called Blastomyces dermatitidis, a fungus that is found in moist soil, particularly where there is rotting vegetation. The fungus enters the body through the lungs, infecting them. The fungus then spreads to other areas of the body.The infection may affect the skin, bones and joints, and other areas. The disease usually affects people with weakened immune systems, such as those with HIV or who have had an organ transplant." "" + "blind loop syndrome" "A disorder affecting the small intestine. It is caused by the stasis of food and subsequent overgrowth of bacteria in a portion of the small intestine that is unintentionally bypassed as a complication of abdominal surgery or as a sequela of gastrointestinal disorders which impede effective motility. Clinical signs include bloating, abdominal pain, diarrhea and weight loss. If untreated, the clinical course progresses to malabsorption of fats, vitamin B12 and calcium, the latter which predisposes to nephrolithiasis and osteoporosis." "" + "bone giant cell tumor" "A benign but locally aggressive tumor that arises from the bone and is composed of mononuclear cells admixed with macrophages and osteoclast-like giant cells. It usually arises from the ends of long bones or the vertebrae. Clinical presentation includes pain, edema, and decreased range of motion in the affected joint." "" + "border disease" "Congenital disorder of lambs caused by a virus closely related to or identical with certain strains of bovine viral diarrhea virus." "" + "borna disease" "An encephalomyelitis of horses, sheep and cattle caused by borna disease virus." "" + "bovine respiratory disease complex" "A multifactorial disease of cattle resulting from complex interactions between environmental factors, host factors, and pathogens. The environmental factors act as stressors adversely affecting the immune system and other host defenses and enhancing transmission of infecting agents." "" + "bovine virus diarrhea-mucosal disease" "Acute disease of cattle caused by the bovine viral diarrhea viruses (diarrhea viruses, bovine viral). Often mouth ulcerations are the only sign but fever, diarrhea, drop in milk yield, and loss of appetite are also seen. Severity of clinical disease varies and is strain dependent. Outbreaks are characterized by low morbidity and high mortality." "" + "Brill-Zinsser disease" "A delayed relapse of epidemic typhus, caused by Rickettsia prowazekii." "" + "epidemic louse-borne typhus" "A gram-negative bacterial infection caused by Rickettsia prowazekii. It is spread by lice infected with the bacteria. Signs and symptoms include sudden headache, generalized muscle pain, malaise, and macular skin lesions. The infection may affect the central nervous system causing encephalitis." "" + "" "true" + "bronchiolitis obliterans with obstructive pulmonary disease" "Bronchiolitis obliterans syndrome (BOS) is a lung disorder that is mainly associated with chronic allograft dysfunction after lung transplantation and that is characterized by inflammation and fibrosis of bronchiolar walls that reduce the diameter of the bronchioles and result in progressive and irreversible airflow obstruction." "" + "bronchopneumonia" "Acute inflammation of the walls of the terminal bronchioles that spreads into the peribronchial alveoli and alveolar ducts. It results in the creation of foci of consolidation, which are surrounded by normal parenchyma. It affects one or more lobes, and is frequently bilateral and basal. It is usually caused by bacteria (e.g., Staphylococcus, Streptococcus, Haemophilus influenzae). Signs and symptoms include fever, cough with production of brown-red sputum, dyspnea, and chest pain." "" + "bulbar polio" "A form of paralytic poliomyelitis affecting neurons of the medulla oblongata of the brain stem. Clinical features include impaired respiration, hypertension, alterations of vasomotor control, and dysphagia. Weakness and atrophy of the limbs and trunk due to spinal cord involvement is usually associated. (From Adams et al., Principles of Neurology, 6th ed, p765)" "" + "disorder of medulla oblongata" "A disease that involves the medulla oblongata." "" + "obsolete bullous pemphigoid" "" "true" + "obsolete Bunyaviridae infectious disease" "" "true" + "Caliciviridae infectious disease" "Virus diseases caused by caliciviridae. They include hepatitis E; vesicular exanthema of swine; acute respiratory infections in felines, rabbit hemorrhagic disease, and some cases of gastroenteritis in humans." "" + "campylobacteriosis" "Infections with bacteria of the genus campylobacter." "" + "cannabis dependence" "Physical and psychological dependence on the drug cannabis." "" + "Caplan syndrome" "A combination of rheumatoid arthritis (RA) and pneumoconiosis that manifests as intrapulmonary nodules, which appear homogenous and well-defined on chest X-ray." "" + "cardiovirus infectious disease" "Infections caused by viruses of the genus cardiovirus, family picornaviridae." "" + "Picornaviridae infectious disease" "Virus diseases caused by the picornaviridae." "" + "cat-scratch disease" "Cat scratch disease is an infectious illness caused by the bacteria bartonella (Bartonella henselae). It is believed to be transmitted by cat scratches, bites, or exposure to cat saliva. This self-limiting infectious diseaseis characterized by a bump or blister at the site of the bite or scratch and swelling and pain in the lymph nodes. Other features may include fatigue, headache, achiness, and fever. Although cat-scratch disease usually subsides without treatment, antibiotic and/or antimicrobial therapy may help speed recovery." "" + "cauda equina syndrome" "Cauda equina syndrome refers to a group of symptoms that occur when some of the nerves in the cauda equina (the bundle of nerves that spread out from the bottom of the spinal cord) become compressed and/or damaged. Signs and symptoms of this condition include pain, numbness, or tingling in the lower back and/or legs; ' foot drop '; problems with bowel and/or bladder control; and sexual dysfunction. Cauda equina syndrome may be caused by a herniated disk, tumor, infection, fracture, or spinal stenosis. Treatment usually targets the underlying cause of the condition and often includes surgery to remove the material that is pressing on the nerves. Physical therapy, occupational therapy, and/or other services may be required if symptoms persist following surgery." "" + "central nervous system AIDS arteritis" "Inflammation of arteries in the central nervous system that occurs in patients with acquired immunodeficiency syndrome or aids-related opportunistic infections." "" + "central nervous system tuberculosis" "A well-circumscribed mass composed of tuberculous granulation tissue that may occur in the cerebral hemispheres, cerebellum, brain stem, or perimeningeal spaces. Multiple lesions are quite common. Management of intracranial manifestations vary with lesion site. Intracranial tuberculomas may be associated with seizures, focal neurologic deficits, and intracranial hypertension. Spinal cord tuberculomas may be associated with localized or radicular pain, weakness, sensory loss, and incontinence. Tuberculomas may arise as opportunistic infections, but also occur in immunocompetent individuals." "" + "pituitary hormone deficiency secondary to a granulomatous disease" "" + "cerebral toxoplasmosis" "Infections of the brain caused by the protozoan toxoplasma gondii that primarily arise in individuals with immunologic deficiency syndromes (see also aids-related opportunistic infections). The infection may involve the brain diffusely or form discrete abscesses. Clinical manifestations include seizures, altered mentation, headache, focal neurologic deficits, and intracranial hypertension. (From Joynt, Clinical Neurology, 1998, Ch27, pp41-3)" "" + "toxoplasmosis" "A parasitic disease contracted by the ingestion or fetal transmission of toxoplasma gondii." "" + "cervical incompetence" "A clinical diagnosis presenting with painless cervical dilatation and spontaneous mid-trimester birth in recurrent pregnancies in the absence of spontaneous membrane rupture, bleeding or clinical chorioamnionitis." "" + "cervicofacial actinomycosis" "A form of actinomycosis characterized by slow-growing inflammatory lesions of the lymph nodes that drain the mouth (lumpy jaw), reddening of the overlying skin, and intraperitoneal abscesses." "" + "chickenpox" "A contagious childhood disorder caused by the varicella zoster virus. It is transmitted via respiratory secretions and contact with chickenpox blister contents. It presents with a vesicular skin rash, usually associated with fever, headache, and myalgias. The pruritic fluid-filled vesicles occur 10-21 days after exposure and last for 3-4 days. An additional 3-4 days of malaise follows before the affected individual feels better. An individual is contagious 1-2 days prior to the appearance of the blisters until all blisters are crusted over. Generally, healthy individuals recover without complications." "" + "chlamydia infectious disease" "Infections with bacteria of the genus CHLAMYDIA." "" + "obsolete chromoblastomycosis" "A subcutaneous mycosis that is a chronic subcutaneous fungal infection, which presents as nodular or verrucoid, ulcerated, or crusted skin lesions on exposed areas of skin caused by Fonsecaea pedrosoi, Fonsecaea compacta, Cladophialophora carrionii or Phialophora verrucosa. Histological examination reveals muriform cells (with perpendicular septations) or thick walled, dark-colored, rounded forms (copper pennies) that are characteristic of this infection." "" "true" + "obsolete Churg-Strauss syndrome" "" "true" + "clonorchiasis" "Infection of the biliary passages with clonorchis sinensis, also called Opisthorchis sinensis. It may lead to inflammation of the biliary tract, proliferation of biliary epithelium, progressive portal fibrosis, and sometimes bile duct carcinoma. Extension to the liver may lead to fatty changes and cirrhosis. (From Dorland, 27th ed)" "" + "coccidioidomycosis" "A fungal infection caused by Coccidioides immitis. Affected individuals usually have mild flu-like symptoms. However, pneumonia and systemic involvement with the formation of abscesses may develop as complications of the disease." "" + "coccidiosis" "A parasitic infection caused by Coccidia. It affects livestock, birds and humans. In humans the parasite infests the intestinal tract and may cause watery diarrhea, abdominal pain, fever, nausea and vomiting." "" + "Colorado tick fever" "A febrile illness characterized by chills, aches, vomiting, leukopenia, and sometimes encephalitis. It is caused by the colorado tick fever virus, a reovirus transmitted by the tick Dermacentor andersoni." "" + "common cold" "An inflammatory process affecting the nasal mucosa, usually caused by viruses (e.g., rhinovirus, adenovirus, parainfluenza virus, and coronavirus). It is characterized by chills, headaches, mucopurulent nasal discharge, coughing, and facial pain." "" + "not rare" "" + "composite lymphoma" "Coexistence of Hodgkin and non-Hodgkin lymphoma in the same anatomic site." "" + "congenital diaphragmatic hernia" "Congenital diaphragmatic hernia (CDH) is a posterolateral defect of the diaphragm that allows passage of abdominal viscera into the thorax, leading to respiratory insufficiency and persistent pulmonary hypertension with high mortality." "" + "non-syndromic diaphragmatic or abdominal wall malformation" "A diaphragmatic or abdominal wall malformation that is not part of a larger syndrome." "" + "non-syndromic diaphragmatic or thoracic malformation" "" + "congenital nystagmus" "Nystagmus present at birth or caused by lesions sustained in utero or at the time of birth. It is usually pendular, and is associated with albinism and conditions characterized by early loss of central vision. Inheritance patterns may be X-linked, autosomal dominant, or recessive. (Adams et al., Principles of Neurology, 6th ed, p275)" "" + "infectious embryofetopathy" "" + "congenital toxoplasmosis" "Toxoplasma infection that is present from birth." "" + "contagious pleuropneumonia" "A pleuropneumonia of cattle and goats caused by species of mycoplasma." "" + "contagious pustular dermatitis" "An infectious dermatitis of sheep and goats, affecting primarily the muzzle and lips. It is caused by a poxvirus and may be transmitted to humans." "" + "Coronaviridae infectious disease" "Virus diseases caused by coronaviridae." "" + "Coronavinae infectious disease" "Virus diseases caused by the coronavirus genus. Some specifics include transmissible enteritis of turkeys (enteritis, transmissible, of turkeys); feline infectious peritonitis; and transmissible gastroenteritis of swine (gastroenteritis, transmissible, of swine)." "" + "cowpox" "A mild, eruptive skin disease of milk cows caused by cowpox virus, with lesions occurring principally on the udder and teats. Human infection may occur while milking an infected animal." "" + "obsolete coxsackievirus infectious disease" "" "true" + "croup" "Acute upper respiratory airways infection that results in the swelling of the larynx. It is usually caused by parainfluenza viruses. Signs include a characteristic barking cough and stridor." "" + "Cryptococcal meningitis" "Meningeal inflammation produced by cryptococcus neoformans, an encapsulated yeast that tends to infect individuals with acquired immunodeficiency syndrome and other immunocompromised states. The organism enters the body through the respiratory tract, but symptomatic infections are usually limited to the lungs and nervous system. The organism may also produce parenchymal brain lesions (torulomas). Clinically, the course is subacute and may feature headache; nausea; photophobia; focal neurologic deficits; seizures; cranial neuropathies; and hydrocephalus. (From Adams et al., Principles of Neurology, 6th ed, pp721-2)" "" + "cryptococcosis" "An acute or chronic, localized or disseminated infection by Cryptococcus neoformans. Sites of involvement include the lungs, central nervous system and meninges, skin, and visceral organs.--2004" "" + "cyclosporiasis" "A protozoan infection that is caused by Cyclospora cayetanensis, which is most commonly acquired from contaminated food or water, and which is characterized by watery diarrhea and abdominal pain." "" + "obsolete cysticercosis" "" "true" + "obsolete cystoisosporiasis" "" "true" + "dicrocoeliasis" "Infection with flukes of the genus Dicrocoelium." "" + "Dictyocaulus infectious disease" "Infection with nematodes of the genus dictyocaulus. In deer, cattle, sheep, and horses the bronchi are the site of infestation." "" + "trichostrongyloidiasis" "Infection by roundworms of the superfamily trichostrongyloidea, including the genera trichostrongylus; ostertagia; Cooperia, haemonchus; Nematodirus, Hyostrongylus, and dictyocaulus." "" + "helminthiasis, animal" "Infestation of animals with parasitic worms of the helminth class. The infestation may be experimental or veterinary." "" + "dipetalonemiasis" "A parasitic infection caused by genus of filarial worms called Dipetalonema. It produces microfilariae in the blood and body fluids." "" + "filariasis" "A parasitic disease caused by tissue-invasive, vector-borne nematodes which can be found anywhere in the human body and that are transmitted to humans through the bite of an infected mosquito or fly or by consumption of unsafe drinking water and which, depending on the subtype can manifest with lymphedema, dermatitis, subcutaneous edema and eye involvement. The disorder is a major public health problem in many tropical and subtropical countries. Six subtypes have been described in the literature: lymphatic filariasis, onchocerciasis, loiasis, mansonelliasis, dirofilariasis and dracunculiasis caused by Wuchereria bancrofti and filarioidea of the genus Brugia; Onchocerca volvulus; Loa loa; Mansonella; Dirofilaria; and Dracunculus medinensis, respectively. Tropical eosinophilia is considered a frequent manifestation." "" + "obsolete diphyllobothriasis" "" "true" + "obsolete dirofilariasis" "" "true" + "dourine" "A disease of horses and donkeys caused by Trypanosoma equiperdum. The disease occurs in Africa, the Americas, and Asia." "" + "obsolete dracunculiasis" "" "true" + "eastern equine encephalitis" "Eastern equine encephalitis (EEE) is an acute arboviral infection caused by an alphavirus of the Togaviridae family transmitted by an infected mosquito, that is characterized by the onset of flulike symptoms including fever, chills, weakness, headache, vomiting, abdominal pain with diarrhea, myalgia, leucocytosis, and hematuria, rapidly progressing to diffuse central nervous system (CNS) involvement with confusion, somnolence, or even coma. Seizures, which may progress to status epilepticus and neurologic sequelae, cranial nerve palsies, and photophobia may occur. EEE is associated with a high rate of morbidity and mortality." "" + "Ebola hemorrhagic fever" "A viral hemorrhagic fever that is caused by the Ebola virus, which is transmitted by contact with infected animals or humans; it is characterized by high fever, unexplained bleeding, and a high mortality rate." "" + "Filoviridae infectious disease" "Infections with viruses of the family filoviridae. The infections in humans consist of a variety of clinically similar viral hemorrhagic fevers but the natural reservoir host is unknown." "" + "Echovirus infectious disease" "Infectious disease processes, including meningitis, diarrhea, and respiratory disorders, caused by echoviruses." "" + "obsolete egg allergy" "Allergic reaction to eggs that is triggered by the immune system." "" "true" + "emphysematous cholecystitis" "Cholecystitis resulting from infection by gas producing organisms." "" + "encephalitozoonosis" "Infection with fungi of the genus encephalitozoon. Lesions commonly occur in the brain and kidney tubules. Other sites of infection in mammals are the liver; adrenal glands; optic nerves; retina; and myocardium." "" + "microsporidiosis" "A fungal infection caused by Microsporidia. It occurs in immunocompromised patients, causing diarrhea and wasting." "" + "Nematoda infectious disease" "Infections caused by nematode larvae which never develop into the adult stage and migrate through various body tissues. They commonly infect the skin, eyes, and viscera in humans. Ancylostoma brasiliensis causes cutaneous larva migrans. Toxocara causes visceral larva migrans." "" + "enterobiasis" "An infection that is caused by the nematode Enterobius vermicularis; it is characterized predominantly by perianal pruritus." "" + "enzootic pneumonia of calves" "Chronic endemic respiratory disease of dairy calves and an important component of bovine respiratory disease complex. It primarily affects calves up to six months of age and the etiology is multifactorial. Stress plus a primary viral infection is followed by a secondary bacterial infection. The latter is most commonly associated with pasteurella multocida producing a purulent bronchopneumonia. Sometimes present are mannheimia haemolytica; haemophilus somnus and mycoplasma species." "" + "ephemeral fever" "An Ephemerovirus infection of cattle caused by bovine ephemeral fever virus (ephemeral fever virus, bovine). It is characterized by respiratory symptoms, increased oropharyngeal secretions and lacrimation, joint pains, tremor, and stiffness." "" + "epidemic pleurodynia" "An acute, febrile, infectious disease generally occurring in epidemics. It is usually caused by coxsackieviruses B and sometimes by coxsackieviruses A; echoviruses; or other enteroviruses." "" + "epidural abscess" "Circumscribed collections of suppurative material occurring in the spinal or intracranial epidural space. The majority of epidural abscesses occur in the spinal canal and are associated with osteomyelitis of a vertebral body; analgesia, epidural; and other conditions. Clinical manifestations include local and radicular pain, weakness, sensory loss, urinary incontinence, and fecal incontinence. Cranial epidural abscesses are usually associated with osteomyelitis of a cranial bone, sinusitis, or otitis media. (From Adams et al., Principles of Neurology, 6th ed, p710 and pp1240-1; J Neurol Neurosurg Psychiatry 1998 Aug;65(2):209-12)" "" + "epiglottitis" "Inflammation of the epiglottis." "" + "epilepsy with generalized tonic-clonic seizures" "A generalized tonic-clonic seizure." "" + "adolescent/adult-onset epilepsy syndrome" "An epilepsy syndrome that has an onset during the adolescent or adult stage of life." "" + "equine infectious anemia" "Viral disease of horses caused by the equine infectious anemia virus (eiav; infectious anemia virus, equine). It is characterized by intermittent fever, weakness, and anemia. Chronic infection consists of acute episodes with remissions." "" + "eumycotic mycetoma" "A chronic granulomatous inflammation involving the deep dermis and the subcutaneous tissues. It is caused by fungi and actinomycetes." "" + "eunuchism" "The state of being a eunuch, a male without testes or whose testes failed to develop. It is characterized by the lack of mature male germ cells and testicular hormones." "" + "fascioloidiasis" "Infection of cattle and other herbivores with the giant liver fluke Fascioloides magna. It is characterized by extensive destruction of the liver parenchyma." "" + "obsolete fibroepithelial neoplasm" "" "true" + "filarial elephantiasis" "Parasitic infestation of the human lymphatic system by wuchereria bancrofti or brugia malayi. It is also called lymphatic filariasis." "" + "follicular dendritic cell sarcoma" "A neoplasm composed of spindle to ovoid cells which have morphologic and immunophenotypic characteristics of follicular dendritic cells. It affects lymph nodes and other sites including the tonsils, gastrointestinal tract, spleen, liver, soft tissues, skin, and oral cavity. It usually behaves as a low grade sarcoma. Treatment options include complete surgical removal of the tumor with or without adjuvant chemotherapy or radiotherapy. Recurrences have been reported in up to half of the cases." "" + "dendritic cell tumor" "A dendritic cell tumor develops from the cells of the immune system. This condition typically begins in the lymph system and may spread to nearby organs or distant parts of the body (metastasize). There are five subtypes of dendritic cell tumors: follicular dendritic cell tumor, interdigitating dendritic cell tumor, Langerhans' cell histiocytosis, Langerhans' cell sarcoma, and dendritic cell sarcoma not specified otherwise. The symptoms and severity of the condition depend on the subtype and location of the tumor. Treatment may include surgery, radiation therapy, and/or chemotherapy." "" + "foot and mouth disease" "A viral infectious disease that results in infection in cattle and swine, has material basis in foot-and-mouth disease virus, which is transmitted by contaminated fomites, or transmitted by ingestion of food contaminated with infected meat or animal products. The infection results in formation of vesicles in the mouth, or on the feet and has symptom lameness." "" + "gas gangrene" "A severe condition resulting from bacteria invading healthy muscle from adjacent traumatized muscle or soft tissue. The infection originates in a wound contaminated with bacteria of the genus clostridium. C. perfringens accounts for the majority of cases (over eighty percent), while C. noyvi, C. septicum, and C. histolyticum cause most of the other cases." "" + "infection due to clostridium perfringens" "" + "geniculate herpes zoster" "A viral ear infection caused by the spread of varicella-zoster virus to the facial nerves. It is characterized by intense otalgia and a cutaneous vesicular eruption." "" + "genital herpes" "Herpes simplex infection of the genitals, most commonly caused by the herpes simplex-2 virus." "" + "geographic tongue" "A benign condition characterized by the development of irregular patches in the surface of the tongue resulting in a map-like appearance. The patches migrate from day to day and usually resolve without treatment." "" + "geotrichosis" "Infection due to the fungus Geotrichum." "" + "Gerstmann syndrome" "Gerstmann syndrome is a very rare neurological disorder characterized by the specific association of acalculia, finger agnosia, left-right disorientation, and agraphia, which is supposed to be secondary to a focal subcortical white matter damage in the parietal lobe." "" + "glanders" "A condition resulting from infection by Burkholderia mallei, which mainly affects horses." "" + "burkholderia infectious disease" "Infections with bacteria of the genus Burkholderia." "" + "gnathomiasis" "An infection that is caused by nematodes of the genus Gnathostoma, which is commonly found in Southeast Asia, and which is transmitted via the consumption of contaminated raw/undercooked birds, eels, fish, frogs, or reptiles. The pattern of symptoms is species-dependent, and extraintestinal manifestations are due to larval migration (e.g., pulmonary infiltrates, eosinophilic meningitis, or painful, pruritic subcutaneous swellings, and peripheral blood eosinophilia)." "" + "granuloma inguinale" "A condition resulting from infection by Klebsiella granulomati, which is characterized by ulcerative lesions of the genitalia." "" + "Klebsiella infectious disease" "Infections with bacteria of the genus KLEBSIELLA." "" + "haemonchiasis" "Infection with nematodes of the genus haemonchus, characterized by digestive abnormalities and anemia similar to that from hookworm infestation." "" + "hand, foot and mouth disease" "A clinical syndrome that is usually caused by enterovirus infection, and that is characterized by fever, anorexia, and painful sores in the mouth, distal extremities, and/or other sites, including the buttocks." "" + "hantavirus infectious disease" "Any infection caused by a virus of the genus Hantavirus, which is transmitted by aerosolized rodent excreta or rodent bites, that can result in a variety of clinical manifestations from hemorrhagic fever with renal syndrome to a pulmonary syndrome." "" + "obsolete hantavirus pulmonary syndrome" "" "true" + "obsolete HELLP syndrome" "" "true" + "hemopericardium" "An accumulation of blood within the pericardial sac." "" + "henipavirus infectious disease" "Infections with viruses of the genus henipavirus, family paramyxoviridae." "" + "hepatic tuberculosis" "Infection of the liver with species of mycobacterium, most often mycobacterium tuberculosis. It is characterized by localized small tuberculous miliary lesions or tumor-like mass (tuberculoma), and abnormalities in liver function tests." "" + "endocrine tuberculosis" "Infection of the endocrine glands with species of mycobacterium, most often mycobacterium tuberculosis." "" + "hepatitis E virus infection" "Acute inflammation of the liver in humans; caused by hepatitis E virus, a non-enveloped single-stranded rna virus. Similar to hepatitis A, its incubation period is 15-60 days and is enterically transmitted, usually by fecal-oral transmission." "" + "hepatitis D virus infection" "Inflammation of the liver in humans caused by hepatitis delta virus, a defective rna virus that can only infect hepatitis B patients. For its viral coating, hepatitis delta virus requires the hepatitis B surface antigens produced by these patients. Hepatitis D can occur either concomitantly with (coinfection) or subsequent to (superinfection) hepatitis B infection. Similar to hepatitis B, it is primarily transmitted by parenteral exposure, such as transfusion of contaminated blood or blood products, but can also be transmitted via sexual or intimate personal contact." "" + "hepatitis A virus infection" "Acute inflammation of the liver caused by the hepatitis A virus. It is highly contagious and usually contracted through close contact with an infected individual or their feces, contaminated food or water." "" + "herpangina" "A viral infectious disease that results in infection located in mouth, has material basis in Human coxsackievirus A16, has material basis in Human enterovirus 71, has material basis in group B coxsackievirus, or has material basis in echoviruses, which are transmitted by ingestion of food contaminated with feces, transmitted by contact with pharyngeal secretions, or transmitted by droplet spread of oronasal secretions. The infection has symptom fever, has symptom sore throat, and has symptom lesions in the back area of the mouth, particularly the soft palate or tonsillar pillars." "" + "herpes simplex virus gingivostomatitis" "Stomatitis caused by Herpesvirus hominis. It usually occurs as acute herpetic stomatitis (or gingivostomatitis), an oral manifestation of primary herpes simplex seen primarily in children and adolescents." "" + "obsolete herpes simplex virus keratitis" "" "true" + "obsolete histoplasmosis" "" "true" + "HIV enteropathy" "A syndrome characterized by chronic, well-established diarrhea (greater than one month in duration) without an identified infectious cause after thorough evaluation, in an hiv-positive individual. It is thought to be due to direct or indirect effects of hiv on the enteric mucosa. hiv enteropathy is a diagnosis of exclusion and can be made only after other forms of diarrheal illness have been ruled out. (Harrison's Principles of Internal Medicine, 13th ed, pp1607-8; Haubrich et al., Bockus Gastroenterology, 5th ed, p1155)" "" + "AIDS-related disorder" "A non-neoplastic or neoplastic disorder arising as a result of the immunologic defects caused by Autoimmune deficiency Syndrome." "" + "HIV wasting syndrome" "Involuntary weight loss of greater than 10 percent associated with intermittent or constant fever and chronic diarrhea or fatigue for more than 30 days in the absence of a defined cause other than hiv infection. A constant feature is major muscle wasting with scattered myofiber degeneration. A variety of etiologies, which vary among patients, contributes to this syndrome. (From Harrison's Principles of Internal Medicine, 13th ed, p1611)." "" + "HIV-associated nephropathy" "Renal disease in human immunodeficiency virus (HIV)-infected patients. It is characterized by nephrotic syndrome, azotemia, normal to large kidneys on ultrasound images, and focal segmental glomerulosclerosis on renal biopsy findings." "" + "hookworm infectious disease" "Infection of humans or animals with hookworms other than those caused by the genus Ancylostoma or Necator, for which the specific terms ancylostomiasis and necatoriasis are available." "" + "human T-lymphotropic virus 1 infectious disease" "A viral infectious disease that results in increased proliferation of affected CD4 lymphocytes, has material basis in Human T-lymphotropic virus 1, which is transmitted by sexual contact, transmitted by contaminated needles used by intravenous-drug users, and transmitted by breast feeding. The person infected with HTLV-1 eventually develop an often rapidly fatal leukemia, while others will develop a debilitative myelopathy, uveitis, infectious dermatitis, or another inflammatory disorder." "" + "hymenolepiasis" "A parasitic infection caused by tapeworms. Most infected individuals do not have symptoms. When symptoms appear, they include diarrhea, abdominal pain, restlessness, and irritability." "" + "hyperinsulinemic hypoglycemia" "An inherited autosomal recessive syndrome characterized by the disorganized formation of new islets in the pancreas and congenital hyperinsulinism. It is due to focal hyperplasia of pancreatic islet cells budding off from the ductal structures and forming new islets of langerhans. Mutations in the islet cells involve the potassium channel gene kcnj11 or the atp-binding cassette transporter gene abcc8, both on chromosome 11." "" + "hyperprolactinemia" "Abnormally high level of prolactin in the blood." "" + "hyperpituitarism" "Disease of the glandular, anterior portion of the pituitary (pituitary gland, anterior) resulting in hypersecretion of adenohypophyseal hormones such as growth hormone; prolactin; thyrotropin; luteinizing hormone; follicle stimulating hormone ; and adrenocorticotropic hormone. Hyperpituitarism usually is caused by a functional adenoma." "" + "idiopathic CD4-positive T-lymphocytopenia" "A rare immunodeficiency syndrome characterized by the decrease of the CD4-positive lymphocytes below 300 per cubic millimeter in the absence of identifiable immunodeficiency causes. Patients with this syndrome are at an increased risk of opportunistic infections." "" + "inclusion conjunctivitis" "Inflammation of the conjunctiva in a newborn due to Chlamydia trachomatis which was acquired during labor and delivery." "" + "infectious ectromelia" "A viral infection of mice, causing edema and necrosis followed by limb loss." "" + "infectious mononucleosis" "A condition characterized by an increase in mononuclear white blood cells and swollen lymph nodes, which is usually caused by infection with the Epstein-Barr virus." "" + "infectious myxomatosis" "A viral infectious disease that results in infection located in eyes or located in upper respiratory tract of domestic rabbits, has material basis in Myxoma virus, which is transmitted by mosquitos, transmitted by biting flies or transmitted by direct contact. The infection has symptom conjunctivitis with a milky discharge from the inflamed eye and has symptom breathing difficulties." "" + "interdigitating dendritic cell sarcoma" "A neoplastic proliferation of spindle to ovoid cells which show phenotypic features similar to those of interdigitating dendritic cells. The clinical course is generally aggressive. (WHO, 2008)" "" + "pancreatic neuroendocrine neoplasm" "A neoplasm with neuroendocrine differentiation that arises from the pancreas. It includes neuroendocrine tumors (low and intermediate grade) and neuroendocrine carcinomas (high grade)." "" + "pancreatic neoplasm" "A benign or malignant neoplasm involving the pancreas." "" + "obsolete Japanese encephalitis" "" "true" + "Kluver-Bucy syndrome" "Kluver Bucy syndrome is a rare behavioral impairment characterized byinappropriate sexual behaviors and mouthing of objects. Other signs and symptoms, includea diminished ability to visually recognize objects,loss of normal fear and anger responses, memory loss, distractibility, seizures, and dementia. It is associated with damage to the anterior temporal lobes of the brain. Cases have been reported in association with herpes encephalitis and head trauma. Treatment is symptomatic and may include the use of psychotropic medications." "" + "obsolete Langerhans cell sarcoma" "" "true" + "laryngeal tuberculosis" "Extrapulmonary tuberculosis involving the larynx. Signs and symptoms include hoarseness, cough, and odynophagia. The condition is rare." "" + "Lassa fever" "A viral hemorrhagic fever that is caused by the Lassa virus, which is transmitted by contact with infected rodents; it is characterized by fever, headache, malaise, myalgia, and hearing loss." "" + "lassa virus infectious disease" "" + "late congenital syphilis" "" + "latent syphilis" "A stage of syphilis characterized by the serologic evidence of infection by Treponema pallidum without evidence of accompanying signs or symptoms related to the disease." "" + "legionellosis" "Any disease caused by Legionella bacteria." "" + "Legionnaires' disease" "A pneumonia caused by Legionella pneumophila and other Legionella species, which is characterized by fever, cough, progressive respiratory distress, and which is often accompanied by extrapulmonary manifestations." "" + "leptospirosis" "A contagious bacterial infection caused by spirochetes of the genus Leptospira. Humans are infected by contact with water and soil which have been contaminated with animal waste products. The signs and symptoms include an initial flu-like phase, followed by a second phase in which patients may develop meningitis, liver failure and renal failure." "" + "spirochaetales infections" "Infections with bacteria of the order SPIROCHAETALES." "" + "lipid pneumonia" "Pneumonia due to aspiration or inhalation of various oily or fatty substances." "" + "lipoatrophic diabetes" "A rare syndrome characterized by almost complete absence of body fat, accentuated muscularity, insulin-resistant diabetes, hyperlipidemia, hepatomegaly, and hypermetabolism." "" + "listeriosis" "A bacterial infection caused by Listeria monocytogenes. It occurs in newborns, elderly, and immunocompromised patients. The bacteria are transmitted through ingestion of contaminated food. Clinical manifestations include fever, muscle pain, respiratory distress, nausea, diarrhea, neck stiffness, irritability, seizures, and lethargy." "" + "louping ill" "An acute tick-borne arbovirus infection causing meningoencephalomyelitis of sheep." "" + "lumpy skin disease" "A poxvirus infection of cattle characterized by the appearance of nodules on all parts of the skin." "" + "lymph node tuberculosis" "Tuberculosis of the lymph node." "" + "lymphangitis" "Inflammation of the lymphatic vessels." "" + "lymphogranuloma venereum" "Infection with the organism Mycobacterium." "" + "Lynch syndrome" "An autosomal dominant hereditary neoplastic syndrome characterized by the development of colorectal carcinoma and a high risk of developing endometrial carcinoma, gastric carcinoma, ovarian carcinoma, renal pelvis carcinoma, and small intestinal carcinoma. Patients often develop colorectal carcinomas at an early age (mean, 45 years). In the majority of the cases the lesions arise from the proximal colon. At the molecular level, high-frequency microsatellite instability is present." "" + "hereditary nonpolyposis colon cancer" "Hereditary nonpolyposis colon cancer (HNPCC) is a cancer-predisposing condition characterized by the development of colorectal cancer not associated with colorectal polyposis, endometrial cancer, and various other cancers (such as malignant epithelial tumor of ovary, gastric, biliary tract, small bowel, and urinary tract cancer) that are frequently diagnosed at an early age." "" + "mandibular cancer" "A malignant neoplasm involving the mandible" "" + "mansonelliasis" "A parasitic infection caused by the nematode Mansonella. Signs and symptoms include pruritus, headache, fever, arthralgias, and eosinophilia." "" + "obsolete Marburg hemorrhagic fever" "" "true" + "obsolete mast-cell leukemia" "" "true" + "maxillary neoplasm" "Cancer or tumors of the maxilla or upper jaw." "" + "chalazion" "An eyelid cyst caused by the blockage of a meibomian gland." "" + "meningoencephalitis" "Inflammation of the meninges and brain, generally secondary to an infectious cause. Pathogens may be bacterial, viral, fungal, or protozoan." "" + "middle lobe syndrome" "Atelectasis of the right middle pulmonary lobe, with chronic pneumonitis. (Dorland, 27th ed)" "" + "miliary tuberculosis" "I would say the hematogenous widespread dissemination of tuberculosis in the body. The term derives from the chest X-ray image of the tiny (1-5 mm) tuberculosis lesions which are seen through out the lung parenchyma." "" + "milk allergic reaction" "Allergic reaction to milk (usually cow's milk) or milk products. milk hypersensitivity should be differentiated from lactose intolerance, an intolerance to milk as a result of congenital deficiency of lactase." "" + "milker's nodule" "Virus diseases caused by the poxviridae." "" + "Miller Fisher syndrome" "An autoimmune process characterized by the clinical triad of ophthalmoplegia, ataxia, and areflexia." "" + "regional variant of Guillain-Barre syndrome" "" + "mitral valve stenosis" "Narrowing of the left atrioventricular mitral orifice." "" + "mixed connective tissue disease" "Mixed connective tissue disease (MCTD) is a rare autoimmune disorder that is characterized by features commonly seen in three different connective tissue disorders: systemic lupus erythematosus, scleroderma, and polymyositis. Some affected people may also have symptoms of rheumatoid arthritis. Although MCTD can affect people of all ages, it appears to be most common in women under age 30. Signs and symptoms vary but may include Raynaud's phenomenon ; arthritis; heart, lung and skin abnormalities; kidney disease; muscle weakness, and dysfunction of the esophagus. The cause of MCTD is currently unknown. There is no cure but certain medications such as nonsteroidal anti-inflammatory drugs (NSAIDs), corticosteroids and immunosuppresivedrugsmay help manage the symptoms." "" + "overlapping connective tissue disease" "" + "molluscum contagiosum" "A common, benign, usually self-limited viral infection of the skin and occasionally the conjunctivae by a poxvirus (molluscum contagiosum virus). (Dorland, 27th ed)" "" + "mucocutaneous leishmaniasis" "The most common form of leishmaniasis that is transmitted through the bite of female phlebotomine sand flies or after exposure to leishmania parasites. It is characterized by skin lesions at the site of insect bite which typically develop within weeks or months after exposure. The lesions typically progress from small papules to open sores with raised borders and central ulcers which can be covered with scales or crust." "" + "" "true" + "multidrug-resistant tuberculosis" "A type of drug-resistant tuberculosis that is resistant to both rifampicin and isoniazid, the two most powerful anti-TB drugs." "" + "drug-resistant tuberculosis" "Tuberculosis disease caused by Mycobacterium tuberculosis isolate that is resistant to one or more of the antitubercular medications." "" + "multiple chemical sensitivity" "An acquired disorder characterized by recurrent symptoms, referable to multiple organ systems, occurring in response to demonstrable exposure to many chemically unrelated compounds at doses below those established in the general population to cause harmful effects. (Cullen mr. The worker with multiple chemical sensitivities: an overview. Occup Med 1987;2(4):655-61)" "" + "" "true" + "mushroom workers' lung" "An extrinsic allergic alveolitis involving inflammation of the alveoli within the lung caused by hypersensitivity to the inhalation of organic dust particles derived from either the mushrooms, their spores or the compost in which the mushrooms are grown. It is usually caused by the spores of thermophilic actinomycetes." "" + "mycobacterium avium complex disease" "An infection that is caused by Mycobacterium avium." "" + "Mycoplasma pneumoniae pneumonia" "Interstitial pneumonia caused by extensive infection of the lungs (lung) and bronchi, particularly the lower lobes of the lungs, by mycoplasma pneumoniae in humans. In sheep, it is caused by mycoplasma ovipneumoniae. In cattle, it may be caused by mycoplasma dispar." "" + "myelophthisic anemia" "A laboratory test result indicating an abnormal amount of circulating nucleated red blood cells and immature red blood cells." "" + "obsolete myiasis" "" "true" + "necatoriasis" "A disorder caused by an infection with hookworms of the genus Necator, which settle in the host's small intestine, and cause abdominal pain, diarrhea, weight loss, and anemia." "" + "neuroaspergillosis" "Infections of the nervous system caused by fungi of the genus aspergillus, most commonly aspergillus fumigatus. Aspergillus infections may occur in immunocompetent hosts, but are more prevalent in individuals with immunologic deficiency syndromes. The organism may spread to the nervous system from focal infections in the lung, mastoid region, sinuses, inner ear, bones, eyes, gastrointestinal tract, and heart. Sinus infections may be locally invasive and enter the intracranial compartment, producing meningitis, fungal; cranial neuropathies; and abscesses in the frontal lobes of the brain. (From Joynt, Clinical Neurology, 1998, Ch 27, pp62-3)" "" + "neuroschistosomiasis" "Schistosomiasis of the brain, spinal cord, or meninges caused by infections with trematodes of the genus schistosoma (primarily schistosoma japonicum; schistosoma mansoni; and schistosoma haematobium in humans). S. japonicum infections of the nervous system may cause an acute meningoencephalitis or a chronic encephalopathy. S. mansoni and S. haematobium nervous system infections are associated with acute transverse myelitis involving the lower portions of the spinal cord. (From Joynt, Clinical Neurology, 1998, Ch27, pp61-2)" "" + "Newcastle disease" "A condition caused by infection by the Newcastle disease virus, which may be characterized by conjunctivitis, respiratory illness, and diarrhea." "" + "obsolete nocardiosis" "" "true" + "ocular onchocerciasis" "Onchocerciasis affecting the eye." "" + "onchocerciasis" "Onchocerciasis is a form of filariasis, caused by the parasitic worm Onchocerca volvulus, transmitted by the black fly. The infection can either be asymptomatic or manifest as an ocular disease (river blindness) with itchy eyes, erythema, photophobia, onchodermatitis or onchocercal skin disease (classified into acute papular, chronic papular, lichenified, atrophic, and depigmentated) and onchocercomas (over bony prominences). Other classic clinical manifestations are ichthyosis-like lesions (''lizard skin'') and ''hanging groin'', which may be associated with lymphadenopathy." "" + "ocular toxoplasmosis" "Ocular toxoplasmosis is an infection in the eye caused by the parasite, Toxoplasm a gondii. Toxoplasmosis is the most common cause of eye inflammation in the world. Toxoplamosis can beacquired or present at birth (congenital), having crossed the placenta from a newly infected mother to her fetus. Most humans acquire toxoplasmosis by eating raw or undercooked meat, vegetables or milk products, or by coming into contact with infected cat litterbox or sandboxes.In humans,the infectionusually causes no symptoms, and resolves without treatment in a few months. In individuals with compromised immune systems, Toxoplasm a gondii can reactivate to cause disease. Reactivation of a congenital infection was traditionally thought to be the most common cause ofocular toxoplasmosis, but an acquired infection is now considered to be more common. A toxoplasmosis infection that affects the eye usually attacks the retina andinitially resolves without symptoms. However,the inactive parasite maylaterreactivate causing eyepain, blurred vision, and possibly permanent damage, including blindness. Although most cases of toxoplasmosis resolve on their own,for some,inflammation can be treated with antibiotics and steroids." "" + "oesophagostomiasis" "Infection of the intestinal tract with worms of the genus oesophagostomum. This condition occurs mainly in animals other than humans." "" + "obsolete onchocerciasis" "" "true" + "ophthalmic herpes zoster" "Virus infection of the Gasserian ganglion and its nerve branches characterized by pain and vesicular eruptions with much swelling. Ocular involvement is usually heralded by a vesicle on the tip of the nose. This area is innervated by the nasociliary nerve." "" + "opisthorchiasis" "Infection with flukes of the genus Opisthorchis." "" + "oral candidiasis" "Infection of the mucosal lining of the mouth with the fungus Candida albicans." "" + "oral tuberculosis" "Tuberculosis of the mouth, tongue, and salivary glands." "" + "ornithosis" "Disease caused by the Chlamydophila psittaci bacteria, usually transmitted from birds to humans." "" + "obsolete orthomyxoviridae infectious disease" "" "true" + "osteitis fibrosa" "A disorder that is characterized by bone cysts and fractures, resulting from hyperparathyroidism." "" + "ostertagiasis" "A disease of herbivorous mammals, particularly cattle and sheep, caused by stomach worms of the genus ostertagia." "" + "otitis media with effusion" "Otitis media associated with accumulation of fluid in the middle ear." "" + "pancreatic endocrine carcinoma" "An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the pancreas. The mitotic count is more than 20 per 10 HPF. According to the size of the malignant cells, the prominence of the nucleoli, and the amount of cytoplasm, it is classified either as small or large cell neuroendocrine carcinoma." "" + "paracoccidioidomycosis" "A systemic fungal infection caused by Paracoccidioides brasiliensis that is most often seen in immunocompromised patients. It affects the mucous membranes, lymph nodes, lungs and bones." "" + "paragonimiasis" "A parasitic infection caused by trematodes of the Paragonimus genus. Humans are infected from ingestion of raw or undercooked food. It results in chronic lung infection and eosinophilia." "" + "obsolete paratyphoid fever" "" "true" + "parotid disorder" "A disease involving the parotid gland." "" + "parotitis" "Inflammation of the parotid glands." "" + "pasteurellosis" "Infections with bacteria of the genus pasteurella." "" + "peanut allergic reaction" "Allergic reaction to peanuts that is triggered by the immune system." "" + "pericardial tuberculosis" "Inflammation of the sac surrounding the heart (pericardium) due to mycobacterium tuberculosis infection. Pericarditis can lead to swelling (pericardial effusion), compression of the heart (cardiac tamponade), and preventing normal beating of the heart." "" + "periodic limb movement disorder" "Excessive periodic leg movements during sleep that cause micro-arousals and interfere with the maintenance of sleep. This condition induces a state of relative sleep deprivation which manifests as excessive daytime hypersomnolence. The movements are characterized by repetitive contractions of the tibialis anterior muscle, extension of the toe, and intermittent flexion of the hip, knee and ankle. (Adams et al., Principles of Neurology, 6th ed, p387)" "" + "peritonsillar abscess" "An abscess that develops in the space surrounding one or both palatine tonsils." "" + "persian gulf syndrome" "Unexplained symptoms reported by veterans of the Persian Gulf War with Iraq in 1991. The symptoms reported include fatigue, skin rash, muscle and joint pain, headaches, loss of memory, shortness of breath, gastrointestinal and respiratory symptoms, and extreme sensitivity to commonly occurring chemicals. (Nature 1994 May 5;369(6475):8)" "" + "peste des petits ruminants infectious disease" "A highly fatal contagious disease of goats and sheep caused by peste-des-petits-ruminants virus. The disease may be acute or subacute and is characterized by stomatitis, conjunctivitis, diarrhea, and pneumonia." "" + "pestivirus infectious disease" "Infections with viruses of the genus pestivirus, family flaviviridae." "" + "phagocyte bactericidal dysfunction" "Disorders in which phagocytic cells cannot kill ingested bacteria; characterized by frequent recurring infection with formulation of granulomas." "" + "phagocytic cell dysfunction" "" + "pharyngoconjunctival fever" "A condition characterized by fever, conjunctivitis, and pharyngitis resulting from infection by adenovirus." "" + "phencyclidine abuse" "The misuse of phencyclidine with associated psychological symptoms and impairment in social or occupational functioning." "" + "phlebotomus fever" "Influenza-like febrile viral disease caused by several members of the bunyaviridae family and transmitted mostly by the bloodsucking sandfly Phlebotomus papatasii." "" + "pityriasis versicolor" "A yeast infection usually manifested as a superficial skin infection. It may also present as a systemic infection in patients who are receiving total parenteral nutrition." "" + "placenta accreta" "The clinical condition in which any part of the placenta invades and is inseparable from the uterine wall. (reVITALize)" "" + "placental insufficiency" "Failure of the placenta to deliver an adequate supply of nutrients and oxygen to the fetus." "" + "Plasmodium falciparum malaria" "Malaria resulting from infection by Plasmodium falciparum." "" + "Plasmodium vivax malaria" "Malaria resulting from infection by Plasmodium vivax." "" + "pleural tuberculosis" "Inflammation of the pleura secondary to an infection with Mycobacterium tuberculosis." "" + "Pneumocystis infectious disease" "Infections with species in the genus pneumocystis, a fungus causing interstitial plasma cell pneumonia (pneumonia, pneumocystis) and other infections in humans and other mammals. Immunocompromised patients, especially those with aids, are particularly susceptible to these infections. Extrapulmonary sites are rare but seen occasionally." "" + "obsolete pneumocystosis" "" "true" + "pneumonic pasteurellosis" "Bovine respiratory disease found in animals that have been shipped or exposed to cattle recently transported. The major agent responsible for the disease is mannheimia haemolytica and less commonly, pasteurella multocida or haemophilus somnus. All three agents are normal inhabitants of the bovine nasal pharyngeal mucosa but not the lung. They are considered opportunistic pathogens following stress, physiological and/or a viral infection. The resulting bacterial fibrinous bronchopneumonia is often fatal." "" + "obsolete poliomyelitis" "" "true" + "polyomavirus infectious disease" "Infections with polyomavirus, which are often cultured from the urine of kidney transplant patients. Excretion of bk virus is associated with ureteral strictures and cystitis, and that of jc virus with progressive multifocal leukoencephalopathy (leukoencephalopathy, progressive multifocal)." "" + "post-thrombotic syndrome" "A condition characterized by a chronically swollen limb, often a leg with stasis dermatitis and ulcerations. This syndrome can appear soon after phlebitis or years later. Postphlebitic syndrome is the result of damaged or incompetent venous valves in the limbs. Distended, tortuous varicose veins are usually present. Leg pain may occur after long period of standing." "" + "postpartum depression" "A type of clinical depression that occurs after childbirth." "" + "endogenous depression" "Depression which is considered strictly biological." "" + "obsolete postpoliomyelitis syndrome" "" "true" + "obsolete progressive multifocal leukoencephalopathy" "" "true" + "pseudorabies" "A highly contagious herpesvirus infection affecting the central nervous system of swine, cattle, dogs, cats, rats, and other animals." "" + "lung sarcomatoid carcinoma" "A rare, aggressive, poorly differentiated, non-small cell lung carcinoma characterized by the presence of a sarcomatoid component often associated with giant cell differentiation. There is a male to female ratio of 4:1. Clinical symptoms include cough, hemoptysis, chest pain, progressive dyspnea and fever secondary to recurrent pneumonia. Cigarette smoking is a major risk factor." "" + "obsolete pyruvate decarboxylase deficiency" "" "true" + "obsolete reactive arthritis" "" "true" + "recurrent pneumonia" "Infections with nontuberculous mycobacteria (atypical mycobacteria): M. kansasii, M. marinum, M. scrofulaceum, M. flavescens, M. gordonae, M. obuense, M. gilvum, M. duvali, M. szulgai, M. intracellulare (see mycobacterium avium complex;), M. xenopi (littorale), M. ulcerans, M. buruli, M. terrae, M. fortuitum (minetti, giae), M. chelonae." "" + "REM sleep behavior disorder" "A disorder characterized by episodes of vigorous and often violent motor activity during rem sleep (sleep, rem). The affected individual may inflict self injury or harm others, and is difficult to awaken from this condition. Episodes are usually followed by a vivid recollection of a dream that is consistent with the aggressive behavior. This condition primarily affects adult males. (From Adams et al., Principles of Neurology, 6th ed, p393)" "" + "renal tuberculosis" "Infection of the kidney due to mycobacteria." "" + "respirovirus infectious disease" "Infections with viruses of the genus respirovirus, family paramyxoviridae. Host cell infection occurs by adsorption, via hemagglutinin, to the cell surface." "" + "Reye syndrome" "An acute and potentially fatal metabolic disorder characterized by cerebral edema, fatty liver and hypoglycemia. It occurs primarily in children and has been associated with the use of aspirin for the treatment of viral infections. However, it can also occur in the absence of aspirin use." "" + "Rhabdoviridae infectious disease" "Virus diseases caused by rhabdoviridae. Important infections include rabies; ephemeral fever; and vesicular stomatitis." "" + "rhinoscleroma" "A granulomatous disease caused by klebsiella rhinoscleromatis infection. Despite its name, this disease is not limited to the nose and nasopharynx but may affect any part of the respiratory tract, sometimes with extension to the lip and the skin." "" + "rhinosporidiosis" "Chronic, localized granulomatous infection of mucocutaneous tissues, especially the nose, and characterized by hyperplasia and the development of polyps. It is found in humans and other animals and is caused by the mesomycetozoean organism rhinosporidium seeberi." "" + "rickettsial pneumonia" "Pneumonia caused by infection with bacteria of the family rickettsiaceae." "" + "pneumonia caused by gram negative bacteria" "" + "obsolete Ritter disease" "" "true" + "roseolovirus infectious disease" "Infection with roseolovirus, the most common in humans being exanthema subitum, a benign disease of infants and young children." "" + "Salmonella gastroenteritis" "Poisoning caused by ingestion of food harboring species of salmonella. Conditions of raising, shipping, slaughtering, and marketing of domestic animals contribute to the spread of this bacterium in the food supply." "" + "obsolete sarcocystosis" "" "true" + "scarlet fever" "A streptococcal infection, mainly occurring among children, that is characterized by a red skin rash, sore throat, and fever." "" + "scirrhous adenocarcinoma" "An infiltrating adenocarcinoma characterized by the presence of desmoplastic stromal reaction." "" + "screw worm infectious disease" "Infection with larvae of the blow fly Cochliomyia hominivorax (Callitroga americanum), a common cause of disease in livestock in the southern and southwestern U.S.A." "" + "obsolete scrub typhus" "" "true" + "septicemic plague" "A plague in which the bacteria have entered the bloodstream." "" + "setariasis" "Infection with nematodes of the genus Setaria. This condition is usually seen in cattle and equines and is of little pathogenic significance, although migration of the worm to the eye may lead to blindness." "" + "obsolete sex cord-stromal tumor" "" "true" + "sick building syndrome" "A group of symptoms that are two- to three-fold more common in those who work in large, energy-efficient buildings, associated with an increased frequency of headaches, lethargy, and dry skin. Clinical manifestations include hypersensitivity pneumonitis (alveolitis, extrinsic allergic); allergic rhinitis (rhinitis, allergic, perennial); asthma; infections, skin eruptions, and mucous membrane irritation syndromes. Current usage tends to be less restrictive with regard to the type of building and delineation of complaints. (From Segen, Dictionary of Modern Medicine, 1992)" "" + "silicosis" "Silicosis is a respiratory disease caused by breathing in (inhaling) silica dust. There are three types of silicosis: Simple chronic silicosis, the most common type of silicosis, results from long-term exposure (usually more than 20years) to low amounts of silica dust. Simple chronic silicosismay causepeople to have difficulty breathing. Accelerated silicosis occurs after 5 to 15 yearsof exposure of higher levels of silica.Swelling of the lungsand other symptoms occur faster in this type of silicosis than in the simple chronic form. Acute silicosis results from short-term exposure (weeks or months) of large amounts of silica.The lungs become very inflamed and can fill with fluid, causing severe shortness of breath and low blood oxygen levels. A cough, weight loss, and fatigue may also be present. Acute silicosis progresses rapidly and can be fatal within months. People who work in jobs where they are exposed to silica dust (mining, quarrying, construction, sand blasting, stone cutting) are at risk of developing this condition." "" + "skeletal tuberculosis" "Tuberculosis of the bones or joints." "" + "sparganosis" "A condition resulting from infection with the second stage larvae of the parasite Spirometra." "" + "spinal stenosis" "Narrowing of the spinal canal." "" + "spleen neoplasm" "A benign or malignant neoplasm that affects the spleen. Representative examples include hemangioma, lymphoma, splenic involvement by leukemia, and angiosarcoma." "" + "splenic tuberculosis" "Infection of the spleen with species of mycobacterium." "" + "sporotrichosis" "The commonest and least serious of the deep mycoses, characterized by nodular lesions of the cutaneous and subcutaneous tissues. It is caused by inhalation of contaminated dust or by infection of a wound." "" + "st. Louis encephalitis" "A viral encephalitis caused by the St. Louis encephalitis virus (encephalitis virus, st. louis), a flavivirus. It is transmitted to humans and other vertebrates primarily by mosquitoes of the genus culex. The primary animal vectors are wild birds and the disorder is endemic to the midwestern and southeastern United States. Infections may be limited to an influenza-like illness or present as an aseptic meningitis or encephalitis. Clinical manifestations of the encephalitic presentation may include seizures, lethargy, myoclonus, focal neurologic signs, coma, and death. (From Adams et al., Principles of Neurology, 6th ed, p750)" "" + "mosquito-borne viral encephalitis" "Viral encephalitis that is transmitted by mosquitos." "" + "staphylococcal pneumonia" "Pneumonia caused by infections with bacteria of the genus staphylococcus, usually with staphylococcus aureus." "" + "staphyloenterotoxemia" "Food poisoning that is caused by Staphylococcal infection." "" + "streptococcal pneumonia" "A febrile disease caused by streptococcus pneumoniae." "" + "strongyloidiasis" "An infection that is caused by nematodes of the genus Strongyloides, most commonly Strongyloides stercoralis, which is a soil-transmitted helminth, and which is characterized by a variety of gastrointestinal, dermatologic, and, occasionally, pulmonary manifestations. The worm's autoinfective life cycle can lead to hyper-infection and life-threatening dissemination in immunocompromised hosts decades after initial infection." "" + "tabes dorsalis" "A form of neurosyphilis characterized by slowly progressive degeneration of the spinal cord. Signs and symptoms include pain, ataxia, loss of coordination, personality changes, blindness, urinary incontinence, dementia, and degeneration of the joints." "" + "theileriasis" "Infection of cattle, sheep, or goats with protozoa of the genus theileria. This infection results in an acute or chronic febrile condition." "" + "thoracic outlet syndrome" "A syndrome resulting from the compression of the blood vessels or nerves in the space between the clavicle and first rib (thoracic outlet). It is caused by car accident injuries or repetitive job or sport-related injuries. Signs and symptoms include pain in the shoulders and neck, numbness in the fingers, and weakening grip." "" + "tick infestation" "Infestations with soft-bodied (Argasidae) or hard-bodied (Ixodidae) ticks." "" + "tick paralysis" "Paralysis caused by a neurotropic toxin secreted by the salivary glands of ticks." "" + "tinea infection" "A skin infection caused by a fungus." "" + "tinea favosa" "A severe, chronic fungal skin infection, usually of the scalp, characterized by the development of thick, yellow cup-shaped crusts and scarring over hair follicles." "" + "tinea pedis" "Dermatological pruritic lesion in the feet, caused by Trichophyton rubrum, T. mentagrophytes, or Epidermophyton floccosum." "" + "torovirus infectious disease" "Infections with viruses of the genus torovirus, family coronaviridae." "" + "toxascariasis" "Infections with nematodes of the genus toxascaris." "" + "toxocariasis" "A parasitic infection caused by worms found in domestic animals. In humans nematode larvae enter the portal system from the small intestine and disseminate in visceral organs causing inflammatory reactions. Signs and symptoms include eosinophilia, hepatomegaly, splenomegaly, and lung infections." "" + "trench fever" "An intermittent fever characterized by intervals of chills, fever, and splenomegaly each of which may last as long as 40 hours. It is caused by bartonella quintana and transmitted by the human louse." "" + "trichinosis" "A parasitic infection caused by larvae of worms of the genus Trichinella. It is transmitted to humans by ingesting raw or undercooked meat from infected animals. Signs and symptoms include abdominal discomfort, nausea, vomiting, fever, diarrhea, headache, coughing, myalgias, arthralgias, and eye swelling." "" + "Trichomonas vaginitis urogenital infection" "A sexually transmitted parasitic infection caused by Trichomonas vaginalis. Symptoms include vaginal discharge, vaginal odor, vaginal itching, and discomfort during intercourse." "" + "trichostrongylosis" "Infestation with nematode worms of the genus trichostrongylus. Humans become infected by swallowing larvae, usually with contaminated food or drink, although the larvae may penetrate human skin." "" + "trichuriasis" "An infection that is caused by the nematode Trichuris trichiura, a soil-transmitted helminth, which is transmitted via food and/or water contaminated with the eggs of the worm. Symptoms are usually mild and include abdominal pain, diarrhea, fatigue, and possibly anemia secondary to blood loss in diarrhea." "" + "tricuspid valve stenosis" "Narrowing or stricture of the tricuspid orifice of the heart." "" + "trombiculiasis" "Infestation with mites of the genus Trombiculidae, whose larvae carry the rickettsial agent of scrub typhus." "" + "tuberculous empyema" "An empyema resulting from infection by Mycobacterium tuberculosis." "" + "pleural empyema" "The presence of pus in the thoracic cavity, between the visceral and parietal pleura." "" + "tuberculous peritonitis" "A form of peritonitis seen in patients with tuberculosis, characterized by lesion either as a miliary form or as a pelvic mass on the peritoneal surfaces. Most patients have ascites, abdominal swelling, abdominal pain, and other systemic symptoms such as fever; weight loss; and anemia." "" + "urinary schistosomiasis" "A bladder infection that occurs as a manifetation of a systemic infection with one or more species of the parasitic worms of the Schistosoma type; this can progress to bladder cancer in time." "" + "vasomotor rhinitis" "Inflammation in the nasal cavity mucosa that results from the abnormal regulation of the blood flow in the nose. It may be caused by temperature fluctuations, air pollution, strong odors, and tobacco smoke. It results in chronic nasal congestion, sneezing, and running nose." "" + "Venezuelan equine encephalitis" "A condition caused by infection by the Venezuelan equine encephalitis virus, which is characterized by headache, fever, myalgia, nausea, and vomiting." "" + "vesicoureteral reflux" "Abnormal flow of urine from the urinary bladder back into the ureters." "" + "vestibular neuronitis" "Idiopathic inflammation of the vestibular nerve, characterized clinically by the acute or subacute onset of vertigo; nausea; and imbalance. The cochlear nerve is typically spared and hearing loss and tinnitus do not usually occur. Symptoms usually resolve over a period of days to weeks. (Adams et al., Principles of Neurology, 6th ed, p304)" "" + "salmonid viral hemorrhagic septicemia" "A systemic infection of various salmonid and a few nonsalmonid fishes caused by Viral hemorrhagic septicemia virus (see novirhabdovirus)," "" + "fish disease" "Diseases of freshwater, marine, hatchery or aquarium fish. This term includes diseases of both teleosts (true fish) and elasmobranchs (sharks, rays and skates)." "" + "viral pneumonia" "Inflammation of the lung parenchyma that is caused by a viral infection." "" + "visna disease" "Demyelinating leukoencephalomyelitis of sheep caused by the visna-maedi virus. It is similar to but not the same as scrapie." "" + "vulvovaginal candidiasis" "Infection of the vulva and vagina with a fungus of the genus CANDIDA. It is a disease associated with HIV infection." "" + "vulvovaginitis" "An inflammatory pathologic process that affects the vulva and the vagina." "" + "Waterhouse-Friderichsen syndrome" "A serious disorder characterized by massive adrenal gland hemorrhage secondary to a bacterial infection, most often Neisseria meningitidis infection. It is manifested with decreased blood pressure, shock, disseminated intravascular coagulation, and adrenocortical insufficiency." "" + "acute adrenal insufficiency" "Acute adrenal insufficiency (AAI) is a rare but severe condition caused by a sudden defective production of adrenal steroids (cortisol and aldosterone). It represents an emergency, thus the rapid recognition and prompt therapy are critical for survival even before the diagnosis is made." "" + "obsolete West Nile encephalitis" "" "true" + "obsolete western equine encephalitis" "" "true" + "Wissler syndrome" "A rheumatic syndrome of possibly allergic origin, usually affecting children and adolescents, and characterized by high fever, exanthema, arthralgia, leukocytosis, and increased sedimentation rate." "" + "rheumatic fever" "A post-bacterial multisystem inflammatory disease occurring as a post-infectious, nonsuppurative sequela of untreated streptococcus pyogenes (Group A streptococcus [GAS]) pharyngitis, and mainly occurs in individuals aged 5 to 15 years. The most common presenting signs are fever, migratory polyarthritis and carditis." "" + "obsolete Zollinger-Ellison syndrome" "" "true" + "Prinzmetal angina" "A syndrome typically consisting of angina (cardiac chest pain) at rest that occurs in cycles. It is caused by vasospasm, a narrowing of the coronary arteries caused by contraction of the smooth muscle tissue in the vessel walls rather than directly by atherosclerosis (buildup of fatty plaque and hardening of the arteries). For a portion of patients Prinzmetal's angina may be a manifestation of vasospastic disorder and is associated with migraine, Raynaud's phenomenon or aspirin-induced asthma." "" + "disorder of acid-base balance" "" + "" "true" + "aldosterone-producing adrenal cortex adenoma" "An adenoma of the adrenal cortex that produces aldosterone. It may be associated with Conn syndrome. Clinical presentation includes hypertension, hypokalemia, and muscle weakness." "" + "" "true" + "breast synovial sarcoma" "A synovial sarcoma (disease) that involves the breast." "" + "cecum adenocarcinoma" "A carcinoma that arises from glandular epithelial cells of the caecum" "" + "diffuse intrinsic pontine glioma" "A neuroglial tumor that arises from the middle portion of the brain stem. It usually affects children and has a poor prognosis." "" + "high grade astrocytic tumor" "An anaplastic astrocytoma (grade III astrocytic tumor) or glioblastoma (grade IV astrocytic tumor)." "" + "gastric adenosquamous carcinoma" "A carcinoma that arises from the stomach and is characterized by the presence of malignant cells with glandular and squamous differentiation." "" + "gastric squamous cell carcinoma" "A rare carcinoma of the stomach resembling squamous cell carcinomas arising elsewhere in the body." "" + "gastric tubular adenocarcinoma" "A variant of gastric adenocarcinoma characterized by prominent dilated or slit-like tubules." "" + "hydrolethalus syndrome" "Hydrolethalus (HLS) is a severe fetal malformation syndrome characterized by craniofacial dysmorphic features, central nervous system, cardiac, respiratory tract and limb abnormalities." "" + "orofacial clefting syndrome" "" + "indeterminate colitis" "It describes patients in whom a diagnosis of ulcerative colitis or Crohn's disease cannot be made based on standard clinical testing, including colonoscopy, imaging, laboratory tests, and biopsy." "" + "lung carcinoid tumor" "A neuroendocrine neoplasm that arises from the lung. It is characterized by the presence of uniform polygonal cells with small or moderate amount of cytoplasm and inconspicuous nucleoli. The cells are usually arranged in organoid and trabecular patterns. It is classified as typical or atypical carcinoid tumor based on the number of mitotic figures and the absence or presence of necrosis. Atypical carcinoid tumors have a worse prognosis." "" + "meningeal tuberculosis" "A bacterial infection of the membranes covering the brain and the spinal cord caused by Mycobacterium tuberculosis." "" + "nephrosclerosis" "Hardening of the kidney due to infiltration by fibrous connective tissue (fibrosis), usually caused by renovascular diseases or chronic hypertension. Nephrosclerosis leads to renal ischemia." "" + "ovarian serous cystadenocarcinoma" "A malignant serous cystic epithelial neoplasm arising from the ovary. It is characterized by the presence of glandular, papillary, or solid structures. Psammoma bodies may be present. In well differentiated cases the malignant epithelial cells resemble the cells of fallopian tube epithelium. In poorly differentiated cases the malignant epithelial cells show anaplastic features." "" + "obsolete pancreatic neuroendocrine tumor" "" "true" + "papillary lung adenocarcinoma" "A morphologic variant of lung adenocarcinoma characterized by the presence of papillary structures." "" + "pleomorphic breast carcinoma" "A rare, aggressive, high grade invasive ductal carcinoma, not otherwise specified. It is characterized by the presence of pleomorphic and bizarre malignant cells that constitute more than 50 percent of the malignant cellular infiltrate." "" + "postweaning multisystemic wasting syndrome" "Pig disease caused by porcine circovirus type 2 (PCV2). Most representative symptoms include wasting, unthriftness, paleness of the skin, respiratory distress, diarrhea and sometimes icterus." "" + "renal leiomyoma" "A leiomyoma that involves the kidney." "" + "urogenital neoplasm" "Tumors or cancer of the urogenital system in either the male or the female." "" + "obsolete thymic lymphoma" "" "true" + "nasal cavity squamous cell carcinoma" "A squamous cell carcinoma that arises from the nasal cavity mucosa. Signs and symptoms include nasal fullness and obstruction, pain, epistaxis, and the presence of a nasal mass." "" + "nasopharyngeal squamous cell carcinoma" "A squamous cell carcinoma that arises from the nasopharynx." "" + "cervical artery dissection" "A tear within the wall of any of the arteries of the neck (carotid artery or vertebral artery) and that allows blood to separate the wall layers. By separating a portion of the wall of the artery (a layer of the Tunica intima or tunica media), a dissection creates two lumens or passages within the vessel, the native or true lumen, and the \"false lumen\" created by the new space within the wall of the artery." "" + "" "true" + "obsolete carbohydrate metabolic disorder" "" "true" + "obsolete lactose intolerance" "" "true" + "lactose intolerance adult type" "Adult onset lactose intolerance" "" + "lactose intolerance" "" + "acinar prostate adenocarcinoma, foamy gland variant" "A variant of acinar prostate adenocarcinoma characterized by the presence of malignant cells with abundant xanthomatous appearing cytoplasm." "" + "acinar prostate mucinous adenocarcinoma" "A usually aggressive morphologic variant of acinar adenocarcinoma of the prostate gland characterized by the presence of lakes of extracellular mucin. This diagnosis applies when at least 25% of the resected tumor contains extracellular mucin." "" + "ACTH-producing pituitary gland adenoma" "An adenoma of the pituitary gland that produces corticotropin. The vast majority of cases are associated with Cushing disease. Clinical manifestations include truncal obesity with thin extremities, thinning of the skin, osteoporosis, and a tendency to bruise easily. Silent or hormonally non-functioning ACTH producing adenomas have also been described. They produce symptoms of a mass-related lesion." "" + "ACTH-producing pituitary gland neoplasm" "An adenoma or carcinoma of the pituitary gland that produces corticotropin." "" + "ACTH-producing pituitary gland carcinoma" "A rare, hormonally functioning or non-functioning pituitary gland adenocarcinoma that produces corticotropin. It may be associated with Cushing disease." "" + "obsolete acute leukemia" "" "true" + "obsolete adenoid cystic breast carcinoma" "An adenoid cystic carcinoma primarily involving the breast. Three morphologic patterns are seen: cribriform, trabecular, and solid. The prognosis is excellent." "" "true" + "adenomatoid odontogenic tumor" "A benign, slow growing neoplasm arising from tooth-forming tissues. The vast majority of cases are intraosseous and most often grow in the maxilla. It is characterized by the presence of odontogenic epithelium which is embedded in a connective tissue stroma. Local excision is curative and recurrences are very rare." "" + "benign neoplasm of oral cavity" "A benign neoplasm that involves the oral cavity." "" + "adrenal gland myelolipoma" "A benign soft tissue lesion arising from the adrenal gland. It is composed of mature adipose and hematopoietic/lymphoid tissues." "" + "adrenal medullary hyperplasia" "A hyperplasia that involves the adrenal medulla." "" + "AIDS-related primary central nervous system lymphoma" "A lymphoma (non-Hodgkin or Hodgkin) arising from the central nervous system and occurring in HIV-positive patients." "" + "virus associated tumor" "" + "ameloblastic carcinoma" "A rare, cytologically malignant ameloblastoma that may metastasize." "" + "odontogenic neoplasm" "A benign or malignant neoplasm arising from tooth-forming tissues. It occurs in the maxillofacial skeleton or the gingiva. Benign tumors are slow growing and are not associated with specific clinical symptoms. Pain is absent or slight. Malignant tumors are usually associated with rapid swelling and pain." "" + "obsolete ampulla of vater carcinoma" "" "true" + "anal melanoma" "A melanoma arising from the anus. Clinical presentation includes rectal bleeding, tenesmus, pain, and change in bowel habit. The prognosis is usually poor." "" + "obsolete anaplastic large cell lymphoma, ALK-negative" "" "true" + "obsolete angioleiomyoma" "" "true" + "angiomyxoma" "A benign soft tissue neoplasm characterized by the presence of neoplastic spindle and stellate cells in a myxoid stroma." "" + "appendix adenocarcinoma" "A carcinoma that arises from glandular epithelial cells of the vermiform appendix." "" + "appendix adenoma" "A circumscribed neoplasm arising from the glandular epithelium of the appendix. Morphologically, it is characterized by a proliferation of neoplastic glandular cells and it is associated with dysplasia. According to the growth pattern, it may be classified as tubular, villous, or tubulovillous. The dysplasia is classified as mild, moderate, or severe." "" + "appendix goblet cell carcinoid" "An invasive mixed adenoneuroendocrine carcinoma of the appendix characterized by a submucosal growth and the presence of neoplastic signet-ring cells resembling goblet cells of the intestine." "" + "combined carcinoid and adenocarcinoma" "A malignant epithelial neoplasm composed of a mixture of neuroendocrine cells with morphologic and immunohistochemical characteristics of carcinoid tumor and malignant glandular cells." "" + "appendix hyperplastic polyp" "A non-neoplastic polyp that arises from the appendix. It is characterized by the presence of elongated serrated crypts and the absence of atypia or dysplasia." "" + "hyperplastic polyp" "A polyp found mainly in the stomach and colon. Microscopically, it is characterized by elongated, serrated crypts lined by proliferative epithelium. Hyperplastic polyps are traditionally considered non-neoplastic, but ras mutation is common, clonality has been demonstrated and biochemical abnormalities and epidemiological associations that occur in colorectal adenomas and carcinomas have been found (WHO Tumors of the Digestive System, 2000)." "" + "polyp of large intestine" "A polyp that involves the large intestine." "" + "appendix neuroendocrine tumor G1" "A well differentiated, low grade tumor with neuroendocrine differentiation that arises from the appendix. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent." "" + "cecum neuroendocrine tumor G1" "A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the cecum. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent." "" + "neuroendocrine tumor of the appendix, well differentiated, low or intermediate grade" "A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the appendix." "" + "appendix villous adenoma" "An adenoma arising from the appendix. It is characterized by the presence of villous epithelial structures and it is associated with dysplasia." "" + "ascending colon neuroendocrine tumor G1" "A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the ascending colon. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent." "" + "colon neuroendocrine tumor G1" "A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the colon. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent." "" + "Askin tumor" "A primitive neuroectodermal tumor (small round blue cell tumor) of the thorax which can involve the periosteum, thoracic wall and/or pleura though it spares the lung parenchyma." "" + "atypical carcinoid tumor" "A carcinoid tumor characterized by a high mitotic rate, often associated with the presence of necrosis and nuclear pleomorphism." "" + "atypical endometrial hyperplasia" "An endometrial hyperplasia characterized by cytologic and architectural changes which may lead to endometrial carcinoma. Despite the atypical features and possible course, there is debate on whether to consider this a neoplasm. The relationship with endometrial intraepithelial neoplasia is also unclear." "" + "atypical lobular breast hyperplasia" "Lobular neoplasia characterized by lobular epithelial proliferation that does not completely fill the lobular unit of the breast." "" + "obsolete B-cell prolymphocytic leukemia" "" "true" + "obsolete Bartholin gland carcinoma" "" "true" + "obsolete Bartholin gland squamous cell carcinoma" "" "true" + "benign adrenal gland pheochromocytoma" "A sporadic or familial pheochromocytoma that is confined to the adrenal gland and does not have any metastatic potential. The majority of cases are sporadic, and usually unilateral. Familial cases are usually bilateral." "" + "benign neoplasm of adrenal medulla" "A benign neoplasm that involves the adrenal medulla." "" + "benign carotid body paraganglioma" "A carotid body paraganglioma that is confined to the site of origin, without metastatic potential." "" + "benign neoplasm of eye" "A benign neoplasm that involves the eye." "" + "malignant biphasic mesothelioma" "A malignant neoplasm arising from mesothelial cells in the pleura. It is characterized by the presence of neoplastic epithelioid cells and sarcomatoid features." "" + "obsolete bladder adenocarcinoma" "" "true" + "bladder inflammatory myofibroblastic tumor" "A multinodular intermediate fibroblastic neoplasm arising from the bladder. It is characterized by the presence of spindle-shaped fibroblasts and myofibroblasts, and a chronic inflammatory infiltrate composed of eosinophils, lymphocytes and plasma cells." "" + "obsolete bladder small cell neuroendocrine carcinoma" "" "true" + "obsolete bladder squamous cell carcinoma" "" "true" + "blast phase chronic myelogenous leukemia, BCR-ABL1 positive" "An advanced phase of chronic myelogenous leukemia. It is characterized by: 1. the presence of blasts in the peripheral blood or bone marrow that are at least 20% of the peripheral blood white cells or of the nucleated cells in the bone marrow respectively, or 2. an extramedullary proliferation of blasts, and/or 3. when there are large aggregates and clusters of blasts in the bone marrow biopsy specimen (adapted from WHO, 2001)." "" + "chronic myelogenous leukemia, BCR-ABL1 positive" "A chronic myeloproliferative neoplasm characterized by the expression of the BCR-ABL1 fusion gene. It presents with neutrophilic leukocytosis. It can appear at any age, but it mostly affects middle aged and older individuals. Patients usually present with fatigue, weight loss, anemia, night sweats, and splenomegaly. If untreated, it follows a biphasic or triphasic natural course; an initial indolent chronic phase which is followed by an accelerated phase, a blast phase, or both. Allogeneic stem cell transplantation and tyrosine kinase inhibitors delay disease progression and prolong overall survival." "" + "breast diffuse large B-cell lymphoma" "A diffuse large B-cell lymphoma that arises from the breast. It is the most common type of primary breast lymphoma." "" + "breast fibrosis" "Breast fibrocystic change characterized by the prominence of fibrotic changes in the parenchyma." "" + "breast mucosa-associated lymphoid tissue lymphoma" "An extranodal marginal zone B-cell lymphoma of mucosa associated lymphoid tissue that arises from the breast as a primary tumor." "" + "MALT lymphoma" "An indolent, extranodal type of non-Hodgkin lymphoma composed of small B-lymphocytes (centrocyte-like cells). The gastrointestinal tract is the most common site of involvement. Other common sites of involvement include lung, head and neck, ocular adnexae, skin, thyroid, and breast. Gastric involvement is associated with the presence of H. pylori infection. (WHO, 2001)" "" + "C-cell hyperplasia" "Neoplastic or reactive proliferation of the C-cells in the thyroid gland. The neoplastic C-cell hyperplasia is associated with familial medullary thyroid gland carcinoma and multiple endocrine neoplasia type II and IIB. Morphologically, it is characterized by the presence of clusters of intrafollicular C-cells with atypical cytologic features. The reactive C-cell hyperplasia is also known as physiological or secondary C-cell hyperplasia and it is associated with conditions that cause hypercalcemia (e.g., hyperparathyroidism)." "" + "calcifying fibrous tumor" "A benign well-circumscribed paucicellular lesion arising from the soft tissues. It is characterized by the presence of fibroblasts, lymphoplasmacytic infiltrates, collagenous stroma formation, psammoma bodies, and dystrophic calcifications." "" + "calcifying nested epithelial stromal tumor of the liver" "A rare malignant tumor that arises from the liver and occurs in children. It is characterized by the presence of nested epithelioid and spindle cells. Desmoplasia, calcifications, and bone formation may also be present." "" + "cardiac rhabdomyoma" "A well circumscribed benign tumor arising from cardiac muscle. It usually affects children and may be present in the fetus. Depending on tumor location and size, cardiac, respiratory, and hemodynamic parameters may be affected. There is an association between cardiac rhabdomyoma and tuberous sclerosis." "" + "rhabdomyoma" "A benign mesenchymal tumor arising from skeletal or cardiac muscle." "" + "" "true" + "" "true" + "obsolete cecum villous adenoma" "" "true" + "central nervous system anaplastic large cell lymphoma" "An anaplastic large cell lymphoma that affects the brain, meninges, or spinal cord." "" + "anaplastic large cell lymphoma" "Anaplastic large cell lymphoma (ALCL) is a rare and aggressive peripheral T-cell non-Hodgkin lymphoma, belonging to the group of CD30-positive lymphoproliferative disorders, which affects lymph nodes and extranodal sites. It is comprised of two sub-types, based on the expression of a protein called anaplastic lymphoma kinase (ALK): ALK positive and ALK negative ALCL." "" + "anaplastic cancer" "" + "central nervous system non-hodgkin lymphoma" "A non-Hodgkin lymphoma that arises from the central nervous system." "" + "obsolete central nervous system lymphoma" "" "true" + "cerebellar liponeurocytoma" "A rare, WHO grade II cerebellar neoplasm which shows consistent neuronal, variable astrocytic and focal lipomatous differentiation. It occurs in adults, has a low proliferative potential and usually has a favorable prognosis. (Adapted from WHO)" "" + "neuronal tumor" "" + "cervical adenoid basal carcinoma" "A rare low grade carcinoma that arises from the cervix. It is characterized by the presence of nests of basaloid cells with focal glandular formations." "" + "cervical adenoid cystic carcinoma" "A rare carcinoma that arises from the cervix. It is characterized by the presence of cystic spaces surrounded by palisaded epithelial cells. The cystic spaces contain eosinophilic hyaline material or mucin. Nuclear pleomorphism, necrotic changes, and a high mitotic rate are also present." "" + "adenoid cystic carcinoma of the cervix uteri" "A adenoid cystic carcinoma that involves the uterine cervix." "" + "obsolete cervical endometrioid adenocarcinoma" "" "true" + "cervical intraepithelial neoplasia grade 2/3" "A neoplastic process in the cervix characterized by morphologic features of both moderate and severe intraepithelial neoplasia." "" + "cervical intraepithelial neoplasia" "" + "cervical large cell neuroendocrine carcinoma" "A rare, aggressive neuroendocrine carcinoma that arises from the cervix and is characterized by the presence of malignant cells with abundant cytoplasm, large nuclei, and prominent nucleoli." "" + "cervical metaplasia" "Metaplastic changes in the cervical glandular or squamous epithelium." "" + "cervical mucinous adenocarcinoma, minimal deviation variant" "A rare, extremely well differentiated cervical mucinous adenocarcinoma in which most of the neoplastic glands cannot be distinguished from the normal endocervical glands." "" + "cervical villoglandular adenocarcinoma" "A cervical adenocarcinoma characterized by the presence of a prominent villoglandular pattern." "" + "cervical small cell carcinoma" "A small cell carcinoma arising from the cervix." "" + "chondroid hamartoma" "A hamartoma that is characterized by the presence of chondroid elements." "" + "chronic eosinophilic leukemia, not otherwise specified" "A rare myeloproliferative neoplasm characterized by a clonal proliferation of eosinophilic precursors resulting in persistently increased numbers of eosinophils in the blood, marrow and peripheral tissues. Since acute eosinophilic leukemia is at best exceedingly rare, the term eosinophilic leukemia is normally used as a synonym for chronic eosinophilic leukemia. In cases in which it is impossible to prove clonality and there is no increase in blast cells, the diagnosis of \"idiopathic hypereosinophilic syndrome\" is preferred. (WHO, 2001)" "" + "obsolete chronic neutrophilic leukemia" "" "true" + "clear cell papillary cystadenoma" "A benign cystic glandular epithelial neoplasm characterized by the presence of neoplastic clear or hobnail cells which form papillary structures. There is no evidence of stromal invasion." "" + "colon Burkitt lymphoma" "A rare Burkitt lymphoma that arises from the colon." "" + "Burkitt lymphoma" "Burkitt lymphoma is a rare form of malignant mature B-cell non-Hodgkin lymphoma." "" + "familial colorectal cancer" "Familial colon cancer is a cluster of colon cancer within a family. Most cases of colon cancer occur sporadically in people with little to no family history of the condition. Approximately 3-5% of colon cancer is considered 'hereditary' and is thought to be caused by an inherited predisposition tocolon cancer that is passed down through a family in an autosomal dominant or autosomal recessive manner. In some of these families, the underlying genetic cause is not known; however, many of these cases are caused by changes (mutations) in the APC , MYH , MLH1 , MSH2 , MSH6 , PMS2 , EPCAM , PTEN , STK11 , SMAD4 , BMPR1A , NTHL1 , POLE , and POLD1 genes (which are associated with hereditary cancer syndromes). An additional 10-30% of people diagnosed with colon cancer have a significant family history of the condition but have no identifiable mutation in a gene known to cause a hereditary predisposition to colon cancer. These clusters of colon cancer are likely due to a combination of gene(s) and other shared factors such as environment and lifestyle. High-risk cancer screening and other preventative measures such as prophylactic surgeries are typically recommended in people who have an increased risk for colon cancer based on their personal and/or family histories." "" + "colon dysplasia" "A morphologic finding indicating the presence of dysplastic glandular epithelial cells in the colonic mucosa. There is no evidence of invasion." "" + "colon inflammatory polyp" "A non-neoplastic polypoid lesion in the colon. It may arise in a background of inflammatory bowel disease or colitis. It is characterized by the presence of a distorted epithelium, inflammation, and fibrosis." "" + "polyp of colon" "A polyp that involves the colon." "" + "colon juvenile polyp" "A non-neoplastic hamartomatous polyp that arises from the colon. It is characterized by the presence of tortuous and cystically dilated glands, edematous changes, and inflammation." "" + "colorectal juvenile polyp" "A non-neoplastic hamartomatous polyp that arises from the colon and rectum. It is characterized by the presence of tortuous and cystically dilated glands, edematous changes, and inflammation." "" + "colon mucosa-associated lymphoid tissue lymphoma" "An extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue that arises from the colon." "" + "colorectal neuroendocrine tumor G1" "A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the colon or rectum. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent." "" + "colon sessile serrated adenoma/polyp" "A polyp that arises from the colon. It is characterized by the presence of serrated glands and the absence of generalized dysplasia. Some authors have suggested that it is a precursor lesion for some colonic adenocarcinomas with microsatellite instability." "" + "colorectal sessile serrated adenoma/polyp" "A polyp that arises from the colon or rectum. It is characterized by the presence of serrated glands and the absence of generalized dysplasia. Some authors have suggested that it is a precursor lesion for some colorectal adenocarcinomas with microsatellite instability." "" + "colorectal squamous cell carcinoma" "A very rare colorectal carcinoma characterized by the presence of a malignant squamous cell infiltrate." "" + "colorectal diffuse large B-cell lymphoma" "A diffuse large B-cell lymphoma that arises from the colon or rectum." "" + "colorectal gastrointestinal stromal tumor" "A gastrointestinal stromal tumor that arises from the colon or rectum. The majority of cases have spindle cell morphology. Gastrointestinal stromal tumors of the colon are usually advanced upon detection and tend to have a poor prognosis; gastrointestinal stromal tumors of the rectum usually have an aggressive clinical course." "" + "colorectal hamartoma" "A non-neoplastic, hamartomatous polyp that arises from the colon and rectum. This group includes the juvenile polyp, Peutz-Jeghers polyp, and Cowden-associated polyp." "" + "gastrointestinal hamartoma" "A non-neoplastic, hamartomatous polyp that arises from the stomach, small intestine, and large intestine. This group includes the juvenile polyps and Peutz-Jeghers polyps." "" + "juvenile polyp" "A non-neoplastic hamartomatous polyp that arises from the stomach and intestinal tract. It is characterized by the presence of tortuous and cystically dilated glands, edematous changes, and inflammation." "" + "colorectal serrated adenocarcinoma" "A rare, invasive colorectal adenocarcinoma characterized by the presence of a malignant infiltrate with serrated glandular architecture." "" + "columnar cell hyperplasia of the breast" "A columnar cell lesion characterized by the presence of enlarged terminal ductal lobular units with dilated acini. The acini are lined by more than two layers of columnar epithelial cells. Prominent apical cytoplasmic snouts are present. Secretions are often present in the lumina of the dilated acini." "" + "obsolete common hematopoietic neoplasm" "" "true" + "complex endometrial hyperplasia" "A hyperplasia characterized by excessive proliferation of endometrial cells, resulting in the formation of complex epithelial structures. Epithelial atypia may be present or absent." "" + "endometrial hyperplasia" "A proliferation of the endometrial cells resulting in glandular enlargement and budding. The proliferation may or may not be associated with atypia of the endometrial cells. When the hyperplastic changes are excessive, there is formation of complex epithelial structures (complex endometrial hyperplasia)." "" + "obsolete conjunctival melanoma" "" "true" + "conjunctival nevus" "A benign melanocytic neoplasm that arises from the conjunctiva." "" + "conjunctival squamous cell carcinoma" "A low-grade squamous cell carcinoma that arises from the conjunctiva. It is the most common primary malignant tumor that arises from the conjunctiva. It usually affects older white males. Excessive exposure to sunlight is a risk factor. Patients may present with a mass, red eye, or pain." "" + "cortisol-producing adrenal cortex adenoma" "An adenoma of the adrenal cortex that produces cortisol. It may be associated with Cushing syndrome. Clinical presentation includes weight gain, round face, easy bruising, muscle weakness, emotional changes, hirsutism, and hypertension." "" + "obsolete craniopharyngioma" "" "true" + "cribriform carcinoma" "A carcinoma characterized by the presence of a cribriform architectural pattern. Representative examples include the intraductal cribriform breast carcinoma and invasive cribriform breast carcinoma." "" + "obsolete cutaneous undifferentiated pleomorphic sarcoma" "" "true" + "dedifferentiated solitary fibrous tumor" "A solitary fibrous tumor characterized by the presence of areas of abrupt transition to high grade sarcoma." "" + "desmoplastic ameloblastoma" "An ameloblastoma with prominent desmoplastic stroma that causes compression of the neoplastic epithelial islands." "" + "digestive system mixed adenoneuroendocrine carcinoma" "A carcinoma that arises from the digestive system and is characterized by the presence of a malignant glandular epithelial component and a malignant neuroendocrine component. At least 30% of either component should be present for the diagnosis to be made." "" + "disseminated peritoneal leiomyomatosis" "A rare, benign process that affects the peritoneal cavity and is characterized by the formation of multiple small nodules that are composed of well differentiated smooth muscle. It usually affects adults in their late reproductive years. Most patients are asymptomatic. The tumor nodules may regress spontaneously." "" + "primary peritoneal tumor" "" + "ductal breast carcinoma in situ and lobular carcinoma in situ" "The co-existence of ductal and lobular carcinoma in situ in the breast, without evidence of stromal invasion." "" + "ductal or ductular proliferation" "A morphologic finding indicating the presence of typical or atypical proliferation of biliary epithelial cells in the portal tracts of the liver." "" + "carcinoma of duodenum" "A carcinoma that involves the duodenum." "" + "duodenal villous adenoma" "A neoplasm that arises from the glandular epithelium of the duodenum. It is characterized by a villous architectural pattern. The neoplastic glandular cells have dysplastic features." "" + "EBV-positive T-cell lymphoproliferative disorder of childhood" "An Epstein-Barr virus-associated mature T-cell lymphoproliferative group of disorders affecting children. It occurs with increased frequency in Asians and Native Americans. It includes the systemic EBV-positive T-cell lymphoma of childhood and the hydroa vacciniforme-like lymphoma." "" + "endolymphatic sac tumor" "An aggressive epithelial neoplasm arising from the temporal bone. It is characterized by the presence of a papillary pattern, and has been described as an adenoma or carcinoma in the literature. There is disagreement regarding its relationship to endolymphatic sac tumor." "" + "endometrial clear cell adenocarcinoma" "A clear cell adenocarcinoma that involves the endometrium." "" + "endometrial hyperplasia without atypia" "Simple or complex endometrial hyperplasia characterized by the absence of epithelial atypia." "" + "obsolete endometrial mucinous adenocarcinoma" "A primary, usually low grade adenocarcinoma of the endometrium in which the majority of the malignant epithelial cells contain abundant intracytoplasmic mucin." "" "true" + "endometrial polyp" "A benign nodular lesion protruding above the surface of the endometrium. It is composed of a fibrous stroma that contains thick-walled blood vessels and dilated endometrial glands. Polypectomy is the treatment of choice. Only few cases with recurrence have been reported." "" + "endometrial serous adenocarcinoma" "A high grade, aggressive adenocarcinoma arising from the endometrium. It is characterized by the presence of complex papillary patterns with cellular budding. Atypical mitoses, necrosis, and psammoma bodies may be present. It is classified as type II endometrial carcinoma and it is not associated with endometrial hyperplasia. It tends to invade deeply into the myometrium and spreads into the lymphatic vessels. Patients frequently present with spread of the tumor beyond the uterus at the time of diagnosis. The prognosis is usually poor." "" + "endometrial small cell carcinoma" "A primary carcinoma of the endometrium that is similar to the small cell carcinoma of the lung, histologically." "" + "endometrial undifferentiated carcinoma" "A primary carcinoma of the endometrium characterized by the presence of malignant cells that lack evidence of differentiation." "" + "ethmoid sinus adenoid cystic carcinoma" "An adenoid cystic carcinoma that affects the ethmoid sinus." "" + "paranasal sinus adenoid cystic carcinoma" "A rare adenoid cystic carcinoma that arises from the paranasal sinuses. It usually has an aggressive clinical course characterized by high recurrence rates and distant metastases." "" + "obsolete extramammary Paget disease" "" "true" + "obsolete extraskeletal Ewing sarcoma/peripheral primitive neuroectodermal tumor" "" "true" + "fallopian tube serous adenocarcinoma" "A serous adenocarcinoma that arises from the fallopian tube. It is usually a high grade invasive adenocarcinoma." "" + "fibrous hamartoma of infancy" "A poorly circumscribed neoplasm arising from the soft tissues in infants. It is characterized by the presence of bland fibroblastic spindle cells, collagenous stroma formation, primitive mesenchymal round cells, and mature fat cells. These components combined form a distinct organoid pattern." "" + "mesenchymal hamartoma" "" + "flat urothelial hyperplasia" "A type of hyperplasia that is characterized by a marked thickening of the urinary tract epithelium. There is no evidence of cytologic atypia. -- 2003" "" + "urothelial hyperplasia" "Hyperplasia of the transitional epithelium of the urinary tract. Morphologically it is subdivided into flat and papillary hyperplasia. -- 2003" "" + "floor of mouth mucoepidermoid carcinoma" "A mucoepidermoid carcinoma of the oral cavity that arises from the floor of the mouth." "" + "carcinoma of floor of mouth" "A carcinoma that involves the mouth floor." "" + "oral cavity mucoepidermoid carcinoma" "A mucoepidermoid carcinoma arising from the minor salivary glands in the oral cavity. It is often asymptomatic and detected during a routine dental examination." "" + "follicular variant thyroid gland papillary carcinoma" "A nonencapsulated variant of papillary carcinoma of the thyroid gland characterized by the predominance of follicular structures. The malignant follicular cells display the nuclear features that characterize the papillary adenocarcinomas of the thyroid gland." "" + "gallbladder adenoma" "A polypoid epithelial neoplasm that arises from the gallbladder. According to the neoplastic growth pattern, it is classified as tubular, tubulopapillary, or papillary." "" + "inherited digestive tract tumor" "" + "polyp of gallbladder" "A polyp that involves the gall bladder." "" + "gallbladder adenosquamous carcinoma" "A carcinoma that arises from the gallbladder. It is characterized by the presence of glandular and squamous malignant epithelial components." "" + "gallbladder squamous cell carcinoma" "A carcinoma that arises from the gallbladder. It is composed entirely by malignant squamous epithelial cells." "" + "gallbladder biliary intraepithelial neoplasia" "A neoplastic, non-invasive lesion that affects the gallbladder epithelium. It is characterized by the presence of atypical epithelial cells with an increased nuclear/cytoplasmic ratio, nuclear hyperchromasia, and loss of nuclear polarity." "" + "gallbladder small cell neuroendocrine carcinoma" "An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the gallbladder. It is characterized by the presence of malignant small cells." "" + "gastric adenoma" "A neoplastic polyp that arises from the stomach. This category includes intestinal-type adenomatous polyps, gastric-type adenomas, and fundic gland polyps." "" + "stomach polyp" "A polyp that arises from the stomach. This category includes neoplastic polyps (intestinal-type adenomatous polyps, gastric-type adenomas, and fundic gland polyps), and non-neoplastic polyps (hyperplastic polyps and hamartomatous polyps)." "" + "gastric choriocarcinoma" "A malignant germ cell tumor that arises from the stomach. It is characterized by the presence of syncytiotrophoblast and cytotrophoblast cellular components. It is often associated with lymph node and hematogenous metastases." "" + "gastric diffuse large B-cell lymphoma" "An extranodal diffuse large B-cell lymphoma that arises from the stomach with the bulk of the mass located in the stomach." "" + "gastric hamartomatous polyp" "A non-neoplastic polyp that arises from the stomach and is characterized by the presence of connective tissue stroma overgrowth and cystic formations." "" + "gastric mantle cell lymphoma" "A mantle cell lymphoma that affects the stomach. It may arise as a solitary mass or it may be a component of multifocal lymphomatous polyposis of the gastrointestinal tract. It usually has an aggressive clinical course." "" + "mantle cell lymphoma" "Mantle cell lymphoma is a rare form of malignant non-Hodgkin lymphoma affecting B lymphocytes in the lymph nodes in a region called the ``mantle zone''." "" + "gastric non-hodgkin lymphoma" "An extranodal non-Hodgkin lymphoma that arises from the stomach with the bulk of the mass located in the stomach. The vast majority of cases are diffuse large B-cell lymphomas and B-cell lymphomas of the mucosa-associated lymphoid tissue." "" + "gastric mucosa-associated lymphoid tissue lymphoma" "A low grade, indolent B-cell lymphoma, usually associated with Helicobacter pylori infection. Morphologically it is characterized by a dense mucosal atypical lymphocytic (centrocyte-like cell) infiltrate with often prominent lymphoepithelial lesions and plasmacytic differentiation. Approximately 40% of gastric MALT lymphomas carry the t(11;18)(q21;q21). Such cases are resistant to Helicobacter pylori therapy." "" + "hereditary gastric cancer" "Hereditary gastric cancer refers to the occurrence of gastric cancer in a familial context and is described as two or more cases of gastric cancer in first or second degree relatives with at least one case diagnosed before the age of 50. Familial clustering is observed in 10% of all cases of gastric cancer, and includes hereditary diffuse gastric cancer (early onset diffuse-type gastric cancer), gastric adenocarcinoma and proximal polyposis of the stomach and familial intestinal gastric cancer (familial clustering of intestinal type gastric adenocarcinoma). Hereditary gastric cancer can also occur in other hereditary cancer syndromes such as Lynch syndrome, Li-Fraumeni syndrome, familial adenomatous polyposis and juvenile polyposis syndrome." "" + "gastric neuroendocrine tumor G1" "A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the stomach. The vast majority of cases arise from the corpus-fundus region. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent. It may be associated with autoimmune chronic atrophic gastritis, multiple endocrine neoplasia type 1, or it may be sporadic." "" + "gastric papillary adenocarcinoma" "A variant of gastric adenocarcinoma with exophytic growth and elongated finger-like processes lined by cylindrical or cuboidal cells supported by fibrovascular connective tissue cores." "" + "gastric small cell neuroendocrine carcinoma" "An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the stomach. It is characterized by the presence of malignant small cells." "" + "gastrointestinal polyp" "A polypoid tumor that arises from any part of the gastrointestinal tract and protrudes into the lumen. Representative examples include adenomatous polyps, hyperplastic polyps, and hamartomatous polyps." "" + "giant cell tumor of soft tissue" "A painless, well circumscribed tumor arising in soft tissue, usually of the upper and lower extremities. Morphologically, it is characterized by a multinodular growth pattern. The cellular infiltrate is composed of mononuclear round or oval cells and multinucleated osteoclast-like giant cells, in a rich vascular stroma. It rarely metastasizes." "" + "grade III prostatic intraepithelial neoplasia" "High grade prostatic intraepithelial neoplasia characterized by the presence of severe architectural and cytologic abnormalities." "" + "obsolete granular cell tumor of the neurohypophysis" "" "true" + "granulocytic sarcoma" "A tumor mass composed of myeloblasts, neutrophils and neutrophil precursors. Granulocytic sarcoma is the most common type of myeloid sarcoma. (WHO, 2001)" "" + "myeloid sarcoma" "A tumor mass composed of myeloblasts or immature myeloid cells. It occurs in extramedullary sites or the bone. (WHO, 2001)" "" + "head and neck paraganglioma" "A benign or malignant extra-adrenal paraganglioma arising from paraganglia in the head and neck. Representative examples include the carotid body and jugulotympanic paragangliomas." "" + "obsolete hemangiopericytic neoplasm" "" "true" + "hepatic granuloma" "A granuloma located in the liver." "" + "obsolete hepatoblastoma" "" "true" + "HER2 positive breast carcinoma" "A biologic subset of breast carcinoma defined by high expression of HER2, GRB7, and TRAP100, and by lack of expression of estrogen receptor (ER)." "" + "high grade surface osteosarcoma" "A usually aggressive high grade malignant bone-forming mesenchymal neoplasm arising from the surface of the bone." "" + "hydatidiform mole" "A gestational trophoblastic disorder characterized by marked enlargement of the chorionic villi, hyperplasia of the villous trophoblastic cells and hydropic changes." "" + "gestational trophoblastic disease" "" + "ileal neuroendocrine tumor G1" "A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the ileum. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent." "" + "ileal neuroendocrine tumor, well differentiated, low or intermediate grade" "A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the ileum." "" + "inclusion body fibromatosis" "A rare benign neoplasm arising from the soft tissues of the digits, in young children. It is characterized by the presence of fibroblastic spindle cells, and intracytoplasmic eosinophilic spherical inclusions." "True" + "obsolete infiltrating bladder lymphoepithelioma-like carcinoma" "" "true" + "obsolete infiltrating bladder urothelial carcinoma sarcomatoid variant" "" "true" + "intimal sarcoma" "A malignant neoplasm arising from the large blood vessels. It is characterized by the presence of tumor cells that grow within the lumen of the blood vessels. The intraluminal tumor growth may result in vascular obstruction and spread of tumor emboli to peripheral organs. The prognosis is usually poor." "" + "jejunal neuroendocrine tumor G1" "A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the jejunum. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent." "" + "obsolete juvenile xanthogranuloma" "" "true" + "kidney medullary carcinoma" "A type of renal carcinoma affecting mostly young African-Americans. It is located in the medulla of the kidney, and follows an aggressive clinical course. Most reported cases have shown metastatic disease at the time of diagnosis." "" + "" "true" + "lacrimal gland adenoid cystic carcinoma" "A adenoid cystic carcinoma that involves the lacrimal gland." "" + "obsolete Langerhans cell histiocytosis" "" "true" + "laryngeal adenoid cystic carcinoma" "A rare adenoid cystic carcinoma of the larynx. It usually arises from the supraglottic or subglottic area. It is characterized by slow progression and late distant metastases." "" + "laryngeal small cell carcinoma" "A rare carcinoma that arises from the larynx. It is characterized by the presence of small neuroendocrine cells. It metastasizes early and has an aggressive clinical course." "" + "laryngeal neuroendocrine neoplasm" "A benign or malignant neoplasm with neuroendocrine differentiation that arises from the larynx. This category includes paraganglioma, carcinoid tumor, small cell carcinoma, and large cell neuroendocrine carcinoma." "" + "liver cavernous hemangioma" "A hemangioma with cavernous vascular spaces arising from the liver. It is the most frequent benign tumor of the liver and usually affects young females." "" + "liver diffuse large B-cell lymphoma" "A rare diffuse large B-cell lymphoma that arises from the liver and the bulk of the tumor is located in the liver." "" + "obsolete liver inflammatory myofibroblastic tumor" "" "true" + "lobular breast carcinoma in situ" "A non-invasive adenocarcinoma of the breast characterized by a proliferation of monomorphic cells completely filling the lumina. The overall lobular architecture is preserved. It is frequently multifocal (90% in some series) and bilateral. It seldom becomes invasive; however there is an increased risk of infiltrating ductal adenocarcinoma." "" + "low grade central osteosarcoma" "A low grade osteosarcoma arising from the medullary portion of the bone. It affects the long bones and is characterized by the presence of fibroblastic stroma and osteoid production. Pain and swelling are the usual sign and symptom. The prognosis is more favorable than conventional osteosarcoma." "" + "low grade fibromyxoid sarcoma" "A low grade, late-metastasizing variant of fibrosarcoma characterized by alternating fibrous and myxoid areas and a whorling growth pattern. The neoplastic cells have a spindle morphology, and lack hyperchromasia or significant nuclear atypia. Approximately 40% of cases show the focal presence of collagen rosettes. A t(7;16)(q33;p11) translocation has been identified in the majority of cases, associated with the presence of FUS-CREB3L2 fusion protein. Rare cases carry the t(11;16)(p11;p11) translocation which is associated with the presence of the FUS-CREB3L1 fusion protein." "" + "low grade fibromyxoid sarcoma with giant collagen rosettes" "A low grade fibromyxoid sarcoma characterized by the presence of prominent collagen rosettes." "" + "low grade vulvar intraepithelial neoplasia" "An intraepithelial lesion of the vulvar squamous epithelium that represents the clinical and morphological manifestation of a productive HPV infection. Low grade refers to the associated low risk of concurrent or future cancer. (WHO, 2014)" "" + "lung giant cell carcinoma" "A morphologic variant of lung sarcomatoid carcinoma characterized by the presence of mononuclear and multinucleated pleomorphic neoplastic giant cells that lack cohesion." "" + "lung inflammatory myofibroblastic tumor" "An intermediate fibroblastic neoplasm arising from the lung. It is characterized by the presence of spindle-shaped fibroblasts and myofibroblasts, and a chronic inflammatory infiltrate composed of eosinophils, lymphocytes and plasma cells." "" + "lung lymphangioleiomyomatosis" "Lymphangiomyomatosis involving the lungs and local lymph nodes. Patients usually present with chylous pleural effusion. The clinical course is variable. Patients with resectable lesions usually have a favorable clinical outcome. Patients with diffuse lesions usually have a progressive clinical course." "" + "lymphangioleiomyomatosis" "A multifocal neoplasm with perivascular epithelioid cell differentiation affecting almost exclusively females of child-bearing age. It is characterized by the presence of smooth muscle and epithelioid cells and by the proliferation of lymphatic vessels. Sites of involvement include the lungs, mediastinum, and the retroperitoneum. It usually presents with chylous pleural effusion or ascites." "" + "lung papilloma" "A benign papillary neoplasm that arises endobronchially. It is classified as squamous cell, glandular, or mixed squamous cell and glandular papilloma. Patients usually present with signs and symptoms of bronchial obstruction." "" + "lung sclerosing hemangioma" "A benign tumor that arises from the lung. It is characterized by the presence of sclerotic, papillary, solid, and hemorrhagic patterns and hyperplastic type II pneumocytes. Cholesterol clefts, hemosiderin deposition, chronic inflammation, and calcifications may be present. In the majority of cases, it is a solitary and peripheral tumor. Patients are usually asymptomatic." "" + "lung signet ring cell carcinoma" "A morphologic variant of lung adenocarcinoma characterized by the presence of signet ring cells." "" + "lymphangiosarcoma" "A malignant neoplasm arising from the endothelial cells of the lymphatic vessels." "" + "lymphoepithelioma-like lung carcinoma" "A morphologic variant of large cell lung carcinoma characterized by the presence of a syncytial growth pattern, large vesicular nuclei with esophnophilic nucleoi, and dense lymphoplasmacytic infiltration." "" + "major salivary gland carcinoma ex pleomorphic adenoma" "A carcinoma that arises from a pleomorphic adenoma in the major salivary glands. It usually originates in the parotid gland. Patients usually present with a history of a long-standing tumor mass which grew rapidly in the past few months. Patients with non-invasive or minimally invasive carcinoma have an excellent prognosis. In cases where there is invasion of the surrounding tissues, the clinical course is aggressive." "" + "salivary gland carcinoma ex pleomorphic adenoma" "A carcinoma that arises from a pleomorphic adenoma in the salivary glands. It usually originates in the parotid gland. Patients usually present with a history of a long-standing tumor mass which grew rapidly in the past few months. Patients with non-invasive or minimally invasive carcinoma have an excellent prognosis. In cases where there is invasion of the surrounding tissues, the clinical course is aggressive." "" + "major salivary gland mucoepidermoid carcinoma" "A carcinoma that arises from the major salivary glands. It usually arises from the parotid gland. It is the most common primary carcinoma of the salivary glands and usually presents as a firm and painless mass. It is characterized by the presence of epidermoid cells, mucus producing cells, and cells of intermediate type. The majority of cases have a favorable outcome." "" + "salivary gland mucoepidermoid carcinoma" "A carcinoma that arises from the salivary glands. It is the most common primary carcinoma of the salivary glands and usually presents as a firm and painless mass. It is characterized by the presence of epidermoid cells, mucus producing cells, and cells of intermediate type. The majority of cases have a favorable outcome." "" + "malignancy in giant cell tumor of bone" "A malignant tumor that arises from the bone. It is characterized by the presence of an area of high grade sarcoma in an otherwise typical giant cell tumor (primary malignancy in giant cell tumor), or the presence of sarcoma in which the pre-existing giant cell tumor may or may not be apparent (secondary malignancy in giant cell tumor)." "" + "malignant adrenal gland pheochromocytoma" "A pheochromocytoma that metastasizes to other anatomic sites. Common sites of metastasis include lymph nodes, bones, liver, and lung. Morphologic features associated with malignant pheochromocytomas include: atypical mitotic figures, capsular and vascular invasion, tumor cell necrosis, and high mitotic activity." "" + "obsolete malignant epitheloid mesothelioma" "" "true" + "malignant jugulotympanic paraganglioma" "A jugulotympanic paraganglioma that metastasizes to other anatomic sites." "" + "jugulotympanic paraganglioma" "A benign or malignant extra-adrenal parasympathetic paraganglioma arising from paraganglia in the base of the skull and middle ear." "" + "obsolete malignant mixed neoplasm" "" "true" + "obsolete mast cell sarcoma" "" "true" + "maxillary sinus adenoid cystic carcinoma" "An adenoid cystic carcinoma that arises from the maxillary sinus. It usually has an aggressive clinical course." "" + "obsolete mediastinal neuroblastoma" "" "true" + "medullomyoblastoma with myogenic differentiation" "A rare malignant embryonal neoplasm arising from the cerebellum. It is characterized by the morphologic features of a medulloblastoma and the presence of a striated muscle component. Its clinical behavior is similar to medulloblastoma." "" + "metanephric adenoma" "A benign, well-circumscribed renal cortical neoplasm affecting females more often than males. Polycythemia has been reported in twelve-percent of patients." "" + "micropapillary serous carcinoma" "An adenocarcinoma characterized by the presence of complex micropapillary structures covered by round and cuboidal cells with a high nuclear to cytoplasmic ratio." "" + "middle ear squamous cell carcinoma" "A rare squamous cell carcinoma that arises from the middle ear." "" + "minor salivary gland adenocarcinoma" "An adenocarcinoma that arises from the minor salivary glands." "" + "minor salivary gland carcinoma" "A carcinoma that arises from the minor salivary glands. Representative examples include adenoid cystic carcinoma, acinic cell carcinoma, polymorphous low grade adenocarcinoma, and mucinous adenocarcinoma." "" + "obsolete mixed cell uveal melanoma" "" "true" + "mixed somatotroph-lactotroph pituitary gland adenoma" "An infrequent pituitary gland adenoma composed of an admixture of acidophilic and chromophobic cells that produce growth hormone and prolactin respectively. Unlike mammosomatotroph adenomas, these two hormones are not localized in the same cell by immunohistochemistry." "" + "" "true" + "mucinous gastric adenocarcinoma" "A variant of gastric adenocarcinoma with more than half of the tumor containing extracellular mucinous pools." "" + "obsolete mucinuos carcinoma" "" "true" + "myofibroma" "A benign, localized, nodular and well-circumscribed neoplasm usually seen as a congenital neoplasm or in the first year of life. It is characterized by a biphasic growth pattern and is composed of small, undifferentiated mesenchymal cells associated with branching thin-walled vessels and more mature neoplastic spindle cells with abundant eosinophilic cytoplasm in a collagenous stroma." "" + "nabothian cyst" "A benign, mucus-filled cervical cyst that occurs when mucus-secreting columnar epithelial cells are covered with squamous epithelium." "" + "nasal cavity polyp" "A soft and painless polypoid mass that arises from the mucosa in the nasal cavity. It is usually the result of an inflammatory process. It may recur following surgical resection." "" + "obsolete neoplastic medium-sized B-lymphocyte with basophilic cytoplasm" "" "true" + "neurothekeoma" "A benign neoplasm arising from nerve sheaths. It is characterized by the presence of a myxoid stroma." "" + "obsolete nevus of Ito" "" "true" + "obsolete nevus of Ota" "" "true" + "non-functioning adrenal cortex adenoma" "An adenoma of the adrenal cortex characterized by the absence of a hormonal syndrome or symptoms suggestive of adrenal disease." "" + "non-seminomatous lesion" "A group of testicular cancers that begin in the germ cells (cells that give rise to sperm). Nonseminomas are identified by the type of cell in which they begin and include embryonal carcinoma, teratoma, choriocarcinoma, and yolk sac carcinoma." "" + "normal breast-like subtype of breast carcinoma" "A biologic subset of breast carcinoma defined by high expression of many genes expressed by adipose and other non-epithelial tissues." "" + "ocular melanoma with extraocular extension" "A melanoma arising from and extending beyond the structures of the eye." "" + "ocular sebaceous carcinoma" "Ocular sebaceous carcinoma is a rare condition and accounts for 1% to 5.5% of eyelid malignancies and is the third most common eyelid malignancy after basal cell and squamous cell carcinoma. It usually affects elderly women, has a high rate of local recurrence, and a tendency to regional and distant metastases." "" + "odontogenic cyst" "A cyst in the jaw that arises from tissues of tooth development." "" + "obsolete ovarian carcinosarcoma" "" "true" + "obsolete ovarian choriocarcinoma" "" "true" + "obsolete ovarian dysgerminoma" "" "true" + "obsolete ovarian embryonal carcinoma" "" "true" + "ovarian endometrioid adenocarcinoma" "An endometrioid adenocarcinoma arising from the ovary. It comprises 10% to 25% of all primary ovarian carcinomas. Grossly, endometrioid carcinoma may present as a cystic or solid mass. Microscopically, the tumor greatly resembles the appearance of the ordinary type of endometrial adenocarcinoma. As a group, endometrioid carcinoma has a prognosis twice as good as that of serous or mucinous carcinoma." "" + "ovarian endometrioid adenocarcinoma with squamous differentiation" "An endometrioid adenocarcinoma that arises from the ovary and exhibits squamous differentiation. The squamous cell component often has a cytologically benign appearance." "" + "ovarian endometriosis" "A non-neoplastic disorder characterized by the growth of endometrial tissue in the ovaries. It results in the development of blood filled ovarian cysts (chocolate cysts), and creation of scars and adhesions." "" + "obsolete ovarian germ cell tumor" "" "true" + "ovarian microcystic stromal tumor" "A benign, unilateral tumor that arises from the ovary and is characterized by the presence of conspicuous microcystic changes, cellular areas, and a fibrous stroma." "" + "benign ovarian sex cord-stromal tumor" "A sex cord-stromal tumor arising from the ovary, without metastatic potential." "" + "obsolete ovarian small cell carcinoma" "" "true" + "obsolete ovarian squamous cell carcinoma" "" "true" + "ovarian transitional cell carcinoma" "A carcinoma that arises from the ovary and is characterized by the presence of malignant epithelial cells that resemble malignant urothelial cells. There is no morphologic evidence of a benign or borderline Brenner tumor component present." "" + "palmar fibromatosis" "A superficial fibromatosis arising from the soft tissue of the palm. It is characterized by the presence of spindle-shaped fibroblasts, and an infiltrative growth pattern. It predominantly affects adult males." "" + "pancreatic large cell neuroendocrine carcinoma" "An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the pancreas. It is characterized by the presence of malignant large cells." "" + "pancreatic small cell neuroendocrine carcinoma" "An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the pancreas. It is characterized by the presence of malignant small cells." "" + "non-papillary transitional cell carcinoma of the bladder" "" + "parathyroid hyperplasia" "A hyperplasia that involves the parathyroid gland." "" + "parotid gland acinic cell carcinoma" "An adenocarcinoma with serous acinar cell differentiation that arises from the parotid gland. Patients usually present with a slow growing mass in the parotid area." "" + "carcinoma of parotid gland" "A carcinoma that involves the parotid gland." "" + "parotid gland adenoid cystic carcinoma" "An aggressive carcinoma that arises from the parotid gland. It is characterized by the presence of malignant epithelial and myoepithelial cells forming cribriform, tubular, and solid patterns. It usually presents as a slow growing mass. Patients develop pain because of the tendency of these carcinomas to invade perineural tissues." "" + "parotid gland carcinoma ex pleomorphic adenoma" "A carcinoma that arises from a pleomorphic adenoma in the parotid gland. Patients usually present with a history of a long-standing tumor mass which grew rapidly in the past few months. Patients with non-invasive or minimally invasive carcinoma have an excellent prognosis. In cases where there is invasion of the surrounding tissues, the clinical course is aggressive." "" + "parotid gland squamous cell carcinoma" "An invasive squamous cell carcinoma that arises from the parotid gland. It usually affects elderly patients and presents as a rapidly enlarging tumor mass, often associated with pain." "" + "salivary gland squamous cell carcinoma" "A squamous cell carcinoma arising from the salivary glands. The majority of patients are in their sixth through eight decades. It usually presents as a rapidly enlarging mass, which may be painful. It usually has an aggressive clinical course." "" + "penile carcinoma" "A carcinoma that arises from epithelial cells of the penis" "" + "penile fibromatosis" "Fibromatosis arising from the soft tissues of the penis. It is characterized by the presence of spindle-shaped fibroblasts, and an infiltrative growth pattern. It causes the penis to bend when it becomes erect." "" + "peritoneal multicystic mesothelioma" "A cystic mesothelioma that arises from the peritoneum and usually affects young to middle aged females. Grossly, it presents as a large multiloculated tumor mass, usually in the pelvic peritoneum. Histologically it is characterized by the presence of multiple cysts that are lined by one or more layers of mesothelial cells that do not show atypia. Patients usually present with abdominal or pelvic mass and pain. The clinical course is indolent. The tumor may recur, but transformation to diffuse malignant mesothelioma is rare." "" + "primary malignant peritoneal tumor" "" + "peritoneal well differentiated papillary mesothelioma" "A localized or multifocal mesothelioma arising from the peritoneum. It predominantly occurs in women. It is characterized by the formation of papillae, covered by a single layer of blunt mesothelial cells. Mitotic figures are not present. There is no evidence of severe cytologic atypia. It has a relatively favorable clinical outcome, compared to diffuse malignant mesothelioma." "" + "Peutz-Jeghers polyp" "A hamartomatous polyp that occurs in the stomach, small and large intestines, and rarely within the esophagus, nasopharynx and the urinary tract. The Peutz-Jeghers polyps are grossly lobulated and dark. Microscopically, they have a central core of smooth muscle covered by mucosa. The smooth muscle shows tree-like branching. The question of whether or not the Peutz-Jeghers polyp is precancerous is a matter of controversy. The loss of heterozygosity on chromosome 19p (where the responsible gene LKB1 is located) suggests that the increased risk of malignancy may be due to malignant transformation from hamartoma to adenocarcinoma. --2002" "" + "Peutz-Jeghers polyp of the stomach" "A non-neoplastic polyp that arises from the stomach and is characterized by the presence of smooth muscle branching bands, and hyperplasia with cystic dilatation of the foveolar epithelium." "" + "Peutz-Jeghers syndrome" "Peutz-Jeghers syndrome (PJS) is an inherited gastrointestinal disorder characterized by development of characteristic hamartomatous polyps throughout the gastrointestinal (GI) tract, and by mucocutaneous pigmentation. PJS carries a considerably increased risk of GI and extra-GI malignancies." "" + "pharyngeal adenoid cystic carcinoma" "An adenoid cystic carcinoma that arises from the pharynx." "" + "phosphaturic mesenchymal tumor" "An extremely rare, benign or malignant mesenchymal tumor arising from the soft tissues or bones. It is a distinctive tumor, which usually displays the following morphologic characteristics: low cellularity, myxoid changes, presence of spindled cells and osteoclasts, hemangiopericytoma-like vessels, hemorrhage, and osteoid-like matrix. It is associated with the presence of a paraneoplastic syndrome called osteogenic osteomalacia. This syndrome usually precedes the appearance of the tumor, and it is characterized by phosphaturia, hypophosphatemia, normal serum calcium levels, and decreased levels of 1,25-dihydroxyvitamin D3. Patients present with bone and muscle pain, severe muscle weakness, fractures, gait disturbances, skeletal deformity, height loss, and slow growth. The metabolic disturbances improve or completely disappear after the complete resection of the tumor." "" + "pineal parenchymal tumor of intermediate differentiation" "A WHO grade II or III pineal parenchymal neoplasm of intermediate-grade malignancy, affecting all ages. It is composed of diffuse sheets or large lobules of uniform cells with mild to moderate nuclear atypia and low to moderate level mitotic activity. (Adapted from WHO)" "" + "obsolete pineoblastoma" "" "true" + "obsolete pineocytoma" "" "true" + "pituicytoma" "An extremely rare, WHO grade I, circumscribed and slow-growing tumor that arises from the neurohypophysis or infundibulum and described in adults. It is characterized by the presence of elongated, spindle-shaped neoplastic glial cells that form storiform patterns or interlacing fascicular arrangements. Signs and symptoms include visual disturbances, headache, amenorrhea, and decreased libido." "" + "low-grade astrocytoma" "" + "placental choriocarcinoma" "Choriocarcinoma that develops in the placenta. It is the rarest form of gestational choriocarcinoma. Metastases to the mother and infant may occur." "" + "placental hemangioma" "A hemangioma arising from the fetal blood vessels in the placental villi." "" + "benign neoplasm of placenta" "A benign neoplasm that involves the placenta." "" + "obsolete plantar fibromatosis" "A superficial fibromatosis arising from soft tissue of the plantar regions. It is characterized by the presence of spindle-shaped fibroblasts, hypercellularity, and an infiltrative growth pattern." "" "true" + "pleural biphasic mesothelioma" "Malignant mesothelioma that arises from the pleura. It is characterized by the presence of epithelioid and sarcomatoid components, with each component representing at least 10% of the tumor." "" + "pleural epithelioid mesothelioma" "Malignant mesothelioma that arises from the pleura and is characterized by the presence of cells with epithelioid morphology. The epithelioid cells usually have eosinophilic cytoplasm, bland nuclei, and form tubulopapillary, microglandular, or sheet-like patterns." "" + "obsolete pleural mesothelioma" "" "true" + "pleural sarcomatoid mesothelioma" "Malignant mesothelioma that arises from the pleura and is characterized by the presence of spindle-shaped cells forming fascicles, or that are distributed haphazardly resembling a sarcoma." "" + "plexiform ameloblastoma" "A histologic variant of solid/multicystic ameloblastoma characterized by the presence of basal cells forming anastomosing strands and cords in a delicate stroma." "" + "poorly differentiated thyroid gland carcinoma" "An adenocarcinoma arising from the thyroid gland showing only limited evidence of follicular cell differentiation. Microscopically, the adenocarcinoma cells are arranged in insular, solid, and trabecular patterns. There is associated necrosis, and vascular invasion. The prognosis depends on the tumor stage, complete or partial surgical removal of the tumor, and the degree of response to radioactive iodine therapy (adapted from WHO Tumors of Endocrine Organs, IARC Press, Lyon 2004)" "" + "primary cutaneous diffuse large B-cell lymphoma, Leg type" "An aggressive primary cutaneous B-cell lymphoma, usually involving the lower leg. It is composed of a generally monotonous proliferation of immunoblasts, or less frequently centroblasts, with few admixed reactive cells. This type of lymphoma occurs most often in elderly women who present with rapidly growing tumors, usually on one or both legs. Dissemination to extracutaneous sites is frequent. Treatment with combination chemotherapy is usually required." "" + "aggressive primary cutaneous B-cell lymphoma" "" + "obsolete primary effusion lymphoma" "" "true" + "primary intraosseous squamous cell carcinoma" "A squamous cell carcinoma that arises centrally from the jaw. It derives from odontogenic epithelial remnants. It includes solid type squamous cell carcinoma, squamous cell carcinoma that arises from an odontogenic cyst, and squamous cell carcinoma that derives from a keratocystic odontogenic tumor." "" + "primary peritoneal serous adenocarcinoma" "A rare, serous adenocarcinoma that diffusely involves the pelvic peritoneum seen predominantly in elderly postmenopausal women. Exclusion of serous carcinoma arising from the ovary and fimbrial end of fallopian tube is required to diagnose the above entity." "" + "primary peritoneal carcinoma" "Primary peritoneal carcinoma (PPC) is a rare malignant tumor of the peritoneal cavity of extra-ovarian origin, clinically and histologically similar to advanced-stage serous ovarian carcinoma." "" + "primary pulmonary diffuse large B-cell lymphoma" "A diffuse large B-cell lymphoma that is localized to the lungs at the time of presentation. Signs and symptoms include cough, dyspnea, and hemoptysis." "" + "lung non-Hodgkin lymphoma" "A rare non-Hodgkin lymphoma that arises in and is confined to the lung at the time of diagnosis. Representative examples include bronchial mucosa-associated lymphoid tissue lymphoma and diffuse large B-cell lymphoma." "" + "prolactin-producing pituitary gland carcinoma" "A rare, hormonally functioning or non-functioning pituitary gland adenocarcinoma that produces prolactin." "" + "prostate small cell carcinoma" "A neuroendocrine carcinoma of the prostate gland with unfavorable prognosis, composed of small cells containing neurosecretory granules. Approximately half of the cases show a mixture of small cells and adenocarcinoma cells." "" + "pyloric gland adenoma" "A rare neoplastic polyp that arises from the stomach. It is characterized by the presence of gastric epithelial differentiation and pyloric gland-type tubular structures, which are closely packed." "" + "rectal hyperplastic polyp" "A serrated polypoid lesion that arises in the rectum. It rarely produces symptoms. This group includes goblet cell rich, mucin poor, and microvesicular hyperplastic polyps." "" + "polyp of rectum" "A polyp that involves the rectum." "" + "rectal traditional serrated adenoma" "An adenoma that arises from the rectum. It is characterized by prominent serration of the glands and the presence of generalized low-grade dysplasia." "" + "rectal tubular adenoma" "A usually polypoid neoplasm that arises from the glandular epithelium of the rectal mucosa. It is characterized by a tubular architectural pattern. The neoplastic glandular cells have dysplastic features." "" + "rectal tubulovillous adenoma" "A neoplasm that arises from the glandular epithelium of the rectal mucosa. It is characterized by tubular and villous architectural patterns. The neoplastic glandular cells have dysplastic features." "" + "colorectal tubulovillous adenoma" "A neoplasm that arises from the glandular epithelium of the colonic and rectal mucosa. It is characterized by tubular and villous architectural patterns. The neoplastic glandular cells have dysplastic features." "" + "rectal villous adenoma" "A neoplasm that arises from the glandular epithelium of the rectal mucosa. It is characterized by a villous architectural pattern. The neoplastic glandular cells have dysplastic features." "" + "renal cell carcinoma associated with Xp11.2 translocations/TFE3 gene fusions" "A group of kidney carcinomas characterized by the presence of different translocations involving the chromosome Xp11.2. These translocations result in the creation of gene fusions involving the TFE3 gene. Patients are usually children and young adults. Morphologically, the malignant epithelial cells form papillary patterns." "" + "retroperitoneal inflammatory myofibroblastic tumor" "A multinodular intermediate fibroblastic neoplasm arising from the retroperitoneum. It is characterized by the presence of spindle-shaped fibroblasts and myofibroblasts, and a chronic inflammatory infiltrate composed of eosinophils, lymphocytes and plasma cells." "" + "obsolete rhabdoid tumor of the kidney" "" "true" + "salivary gland acinic cell carcinoma" "A carcinoma of the salivary gland characterized by serous acinar cell differentiation. The vast majority of cases occur in the parotid gland. It usually presents as a slowly enlarging mass. A minority of patients experience pain. It may recur or metastasize. Multiple recurrences and metastasis to cervical lymph nodes are usually associated with a poor prognosis." "" + "salivary gland adenosquamous carcinoma" "A rare, aggressive carcinoma that arises from the salivary glands. It is characterized by the presence of a squamous and a glandular epithelial component." "" + "salivary gland basal cell adenocarcinoma" "A rare adenocarcinoma of the major and minor salivary glands, originating from basaloid, myoepithelial and ductal cells. While morphologically resembling basal cell carcinomas, it is a distinct entity. The tumor is not encapsulated, may invade locally, and less frequently may metastasize. It usually occurs in older patients." "" + "salivary gland large cell carcinoma" "A rare, highly aggressive carcinoma that arises from the salivary gland, predominantly the parotid gland. It is characterized by the presence of large pleomorphic malignant cells with abundant cytoplasm. Patients usually present with a rapidly growing mass." "" + "salivary gland small cell carcinoma" "An infrequent small cell carcinoma that arises from the salivary glands and is characterized by the presence of a high number of mitotic figures." "" + "sex hormone-producing adrenal cortex adenoma" "A rare adenoma of the adrenal cortex that produces androgens or estrogens." "" + "signet ring cell gastric adenocarcinoma" "A poorly cohesive gastric adenocarcinoma characterized by malignant cells containing intracytoplasmic mucin." "" + "simple endometrial hyperplasia" "A proliferation of endometrial cells resulting in glandular enlargement and budding without changes in the basic structure of the endometrium. Epithelial atypia may be present or absent." "" + "sinonasal undifferentiated carcinoma" "A rare, highly aggressive carcinoma that arises from the sinonasal tract. It is characterized by the presence of small to medium size malignant cells. The prognosis is poor." "" + "sinus histiocytosis with massive lymphadenopathy" "A rare disorder of unknown etiology characterized by distention of the lymph node sinuses and sinusoidal histiocytic infiltration. The histiocytes characteristically contain ingested lymphocytes. Patients present with cervical lymphadenopathy, fever, leukocytosis, and hypergammaglobulinemia. It can affect extranodal sites, including skin, bones, and the respiratory tract. It usually regresses spontaneously." "" + "" "true" + "obsolete small intestinal adenocarcinoma" "" "true" + "small intestinal Burkitt lymphoma" "A Burkitt lymphoma that arises from the small intestine." "" + "small intestinal diffuse large B-cell lymphoma" "A diffuse large B-cell lymphoma that arises from the small intestine." "" + "small intestinal enteropathy-associated T-cell lymphoma" "An enteropathy-associated T-cell lymphoma arising from the small intestine, most commonly the jejunum or ileum. Patients usually present with abdominal pain, often associated with intestinal perforation. There is often a history of celiac disease. The lymphoma cells are usually medium-sized to large and form an ulcerating mucosal lesion with invasion of the small intestinal wall. Villous atrophy is present in the adjacent small intestinal mucosa. In a minority of cases the lymphoma cells are medium-sized and form a monomorphic infiltrate." "" + "enteropathy-associated T-cell lymphoma" "An uncommon mature T-cell lymphoma of intraepithelial lymphocytes. It usually arises from the small intestine, most commonly the jejunum or ileum. Other less frequent primary anatomic sites include the duodenum, stomach, colon, or outside the gastrointestinal tract. It is seen with increased frequency in regions with a high prevalence of celiac disease." "" + "small intestinal intraepithelial neoplasia" "A precancerous neoplastic process that affects the small intestine. It is characterized by low or high grade dysplasia of the mucosal epithelium. There is no evidence of invasion." "" + "small intestinal mucosa-associated lymphoid tissue lymphoma" "A mucosa-associated lymphoid tissue lymphoma (MALT) that arises from the small intestine. The morphologic characteristics are similar to those seen in gastric MALT lymphomas, with the exception of the lymphoepithelial lesions that are less prominent in the small intestine." "" + "small intestinal tubular adenoma" "A usually polypoid neoplasm that arises from the glandular epithelium of the small intestine. It is characterized by a tubular architectural pattern. The neoplastic glandular cells have dysplastic features." "" + "small intestinal tubulovillous adenoma" "A neoplasm that arises from the glandular epithelium of the small intestine. It is characterized by tubular and villous architectural patterns. The neoplastic glandular cells have dysplastic features." "" + "obsolete spinal chordoma" "" "true" + "spinal cord primitive neuroectodermal tumor" "A central nervous system embryonal tumor, not otherwise specified arising from the spinal cord." "" + "splenic diffuse large B-cell lymphoma" "A diffuse large B-cell lymphoma occurring in the spleen." "" + "splenic hodgkin lymphoma" "A rare Hodgkin lymphoma that arises from the spleen." "" + "splenic mantle cell lymphoma" "A mantle cell lymphoma occurring in the spleen." "" + "obsolete splenic marginal zone lymphoma" "" "true" + "stromal predominant kidney Wilms tumor" "Wilms tumor of the kidney characterized by the predominance of the mesenchymal component." "" + "obsolete subcutaneous panniculitis-like T-cell lymphoma" "" "true" + "obsolete Subependymoma" "" "true" + "submandibular gland adenocarcinoma" "An adenocarcinoma that arises from the submandibular gland. Representative examples include polymorphic low-grade adenocarcinoma and acinic cell carcinoma." "" + "submandibular gland adenoid cystic carcinoma" "An aggressive carcinoma that arises from the submandibular gland. It is characterized by the presence of malignant epithelial and myoepithelial cells forming cribriform, tubular, and solid patterns. It usually presents as a slow growing mass. Patients develop pain because of the tendency of these carcinomas to invade perineural tissues." "" + "obsolete superficial fibromatosis" "" "true" + "synovial chondromatosis" "Synovial chondromatosis is a type of non-cancerous tumor that arises in the lining of a joint. The knee is most commonly affected, however it can affect any joint. The tumors begin as small nodules of cartilage. These nodules can separate and become loose within the joint. Some tumors may be no larger than a grain of rice. Synovial chondromatosis most commonly occurs in adults ages 20 to 50. Signs and symptoms may include pain, swelling, a decreased range of motion, and locking of the joint. The exact underlying cause of the condition is unknown. Treatment may involve surgery to remove the tumor. Recurrence of the condition is common." "" + "obsolete syringocystadenoma papilliferum" "" "true" + "obsolete systemic mastocytosis with associated clonal hematological non-mast-cell lineage disease" "" "true" + "obsolete T-cell prolymphocytic leukemia" "" "true" + "tendon sheath fibroma" "A small, slow growing, benign neoplasm arising from the tendon sheaths. The tumor is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation." "" + "obsolete tenosynovial giant cell tumor" "" "true" + "obsolete testicular choriocarcinoma" "A malignant germ cell tumor arising from the testis. It represents the rarest of the testicular germ cell tumors. Histologically it is characterized by the presence of syncytiotrophoblasts and cytotrophoblasts." "" "true" + "obsolete testicular teratoma (disease)" "" "true" + "obsolete testicular yolk sac tumor" "" "true" + "therapy-related myeloid neoplasm" "Acute myeloid leukemias, myelodysplastic syndromes, and myelodysplastic/myeloproliferative neoplasms arising as a result of the mutagenic effect of chemotherapy agents and/or radiation that are used for the treatment of neoplastic or non-neoplastic disorders." "" + "thymic epithelial neoplasm" "An epithelial neoplasm that affects the thymus gland. This category includes thymomas and carcinomas." "" + "thymic sarcomatoid carcinoma" "A rare, usually aggressive, primary thymic carcinoma, characterized by the presence of tumor cells morphologically resembling soft tissue sarcoma." "" + "obsolete thymic small cell carcinoma" "An aggressive, small cell, poorly differentiated thymic neuroendocrine carcinoma, characterized by the presence of a high mitotic rate and numerous apoptotic bodies." "" "true" + "obsolete thymic squamous cell carcinoma" "A rare primary thymic carcinoma, characterized by the presence of keratinizing or non-keratinizing malignant squamous cells. Approximately 10-20% of cases occur in combination with thymoma. The prognosis depends on the tumor stage and the degree of cellular differentiation." "" "true" + "thymic undifferentiated carcinoma" "A rare primary thymic carcinoma, characterized by an undifferentiated solid tumor growth, without associated sarcomatoid features." "" + "obsolete thymoma type AB" "" "true" + "thymoma type B3" "Also known as well-differentiated thymic carcinoma, atypical thymoma, or epithelial thymoma, this type of thymoma displays morphologic characteristics of a well-differentiated carcinoma. The majority of cases occur in the anterior mediastinum as Masaoka stage II or stage III tumors. It is almost always invasive, it recurs frequently, and metastasizes in approximately 20% of the cases." "" + "thyroglossal duct cyst" "A congenital benign cyst arising from the remnants of the thyroglossal duct. It is usually located in the midline of the neck." "" + "obsolete thyroid gland carcinoma" "" "true" + "thyroid gland diffuse large B-cell lymphoma" "A diffuse large B-cell lymphoma primarily involving the thyroid gland." "" + "thyroid lymphoma" "A lymphoma primarily involving the thyroid gland." "" + "thyroid gland mucoepidermoid carcinoma" "A primary, low grade carcinoma of the thyroid gland composed of groups of squamoid and mucous cells, surrounded by fibrous tissue. Prominent cystic structures may be present. The clinical course is usually indolent." "" + "thyroid gland mucosa-associated lymphoid tissue lymphoma" "An extranodal marginal zone B-cell lymphoma arising from mucosa-associated lymphoid tissue in the thyroid gland. The vast majority of cases are associated with chronic lymphocytic thyroiditis." "" + "thyroid gland oncocytic follicular carcinoma" "A follicular carcinoma of the thyroid gland, characterized by the presence of large cells with eosinophilic granular cytoplasm and pleomorphic nuclei with prominent, eosinophilic nucleoli. The nuclear features that characterize the papillary carcinomas of the thyroid gland are absent." "" + "thyroid gland spindle cell tumor with thymus-like differentiation" "A rare, slow growing, primary carcinoma of the thyroid gland characterized by a lobulated architectural pattern and the presence of a biphasic cellular population composed of spindle epithelial cells and glandular cells. A small number of cases are composed exclusively of spindle epithelial cells or glandular cells." "" + "thyroid gland carcinoma" "A carcinoma arising from the thyroid gland. It is usually an adenocarcinoma and includes the following main subtypes: follicular, papillary, medullary, poorly differentiated, and anaplastic." "" + "thyroid gland squamous cell carcinoma" "A rapidly growing primary carcinoma of the thyroid gland composed of malignant squamous cells. The clinical course is usually aggressive." "" + "thyroid gland undifferentiated (anaplastic) carcinoma" "A primary carcinoma of the thyroid gland composed of undifferentiated cells. The malignant cells demonstrate evidence of epithelial differentiation, either by immunohistochemistry or electron microscopic studies. Microscopically, in the majority of cases there is a mixture of spindle, epithelioid, and giant cells. The vast majority of the patients present with a rapidly enlarging neck mass. The clinical course is usually aggressive." "" + "tibial adamantinoma" "An adamantinoma arising from the tibia. The tibia is the site which is more frequently involved by adamantinoma (80-90% of cases)." "" + "tonsillar squamous cell carcinoma" "A squamous cell carcinoma that arises from the mucosal lining of the tonsil and tends to metastasize early to the lymph nodes. It predominantly affects middle aged and elderly patients who have a history of alcohol and tobacco use. Patients may present with tonsillar swelling, sore throat, pain radiating to the ipsilateral ear, or a neck mass." "" + "tracheal adenoid cystic carcinoma" "An adenoid cystic carcinoma that arises from the trachea. It spreads to the submucosal tracheal tissue and to regional lymph nodes." "" + "obsolete tracheal carcinoma" "" "true" + "obsolete tracheal squamous cell carcinoma" "" "true" + "obsolete unclassified renal cell carcinoma" "A renal cell carcinoma characterized by morphologic features that do not fit easily into one of the other well-defined categories of renal cell carcinoma. Examples of such features include mixtures of morphologic patterns, mucin production, and sarcomatoid morphology." "" "true" + "undifferentiated gallbladder carcinoma" "A carcinoma without evidence of differentiation arising from the gallbladder. The most common variant is the spindle and giant cell type which resembles a sarcoma." "" + "undifferentiated ovarian carcinoma" "An aggressive carcinoma arising from the ovary. Most patients present with advanced disease. Microscopically, it is characterized by significant cytologic atypia, increased mitotic activity, and necrosis. The prognosis is usually poor." "" + "undifferentiated pancreatic carcinoma" "A carcinoma with poor prognosis that arises from the pancreas. It is characterized by the presence of a significant malignant component that does not show differentiation. The malignant cells represent a mixture of large, pleomorphic cells and giant cells, or adenocarcinoma cells and spindle cells, or spindle cells." "" + "undifferentiated pancreatic carcinoma with osteoclast-like giant cells" "A rare variant of undifferentiated pancreatic carcinoma characterized by the presence of non-neoplastic osteoclast-like giant cells." "" + "undifferentiated pleomorphic sarcoma, inflammatory variant" "An undifferentiated pleomorphic sarcoma characterized by the presence of numerous inflammatory cells." "" + "ureter small cell carcinoma" "A rare carcinoma that arises from the ureter. It is characterized by the presence of small neuroendocrine cells. The prognosis is poor." "" + "urothelial dysplasia" "A morphologic finding indicating the presence of dysplastic changes in the transitional cell epithelium of the urinary tract." "" + "usual ductal breast hyperplasia" "A neoplastic ductal proliferative lesion of the breast characterized by the formation of secondary lumens and prominent intraductal proliferation of a heterogeneous cellular population that may include epithelial cells, myoepithelial cells, or metaplastic apocrine cells." "" + "vaginal adenoid cystic carcinoma" "An adenoid cystic carcinoma that arises from the vagina. Myoepithelial cells are usually not present." "" + "vaginal adenocarcinoma" "An adenocarcinoma arising from the vagina. Morphologic variants include the clear cell, endometrioid, mesonephric, and mucinous adenocarcinoma." "" + "malignant vaginal mixed epithelial and mesenchymal neoplasm" "A malignant neoplasm that arises from the vagina and is characterized by the presence of an epithelial and a mesenchymal component. This category includes adenosarcoma, carcinosarcoma, and malignant mixed tumor resembling synovial sarcoma." "" + "vaginal carcinoma" "A carcinoma arising from the vaginal epithelium. The majority of vaginal carcinomas are squamous cell carcinomas." "" + "vaginal melanoma" "A primary malignant neoplasm of the vagina composed of malignant melanocytes." "" + "vaginal squamous cell carcinoma" "A squamous cell carcinoma arising from the vagina. Human papillomavirus infection is associated with the development of vaginal intraepithelial neoplasia and invasive squamous cell carcinoma. Signs and symptoms include painless bleeding, postcoital bleeding, and urinary tract symptoms. Morphologically it resembles squamous cell carcinomas in other anatomic sites. Radiation therapy is the preferred treatment for most cases. The prognosis is related to the stage of the disease." "" + "vulvar lichen sclerosus" "A chronic inflammatory disorder of unknown etiology that affects the vulva. It is characterized by the development of white elevated plaques in the vulva. Histologically there is marked subepithelial fibrosis. Clinical manifestations include pruritus, dysuria, and dyspareunia." "" + "lichen sclerosus et atrophicus" "A chronic inflammatory process affecting the skin. It is characterized by the presence of white, indurated plaques, epidermal atrophy, and fibrosis of the upper dermis. It usually appears in the vulva and penis." "" + "obsolete vulvar squamous cell carcinoma" "" "true" + "Warthin tumor" "An adenoma characterized by an oncocytic, often papillary, epithelial component, dense lymphoid stroma, and cystic spaces. It occurs primarily in the parotid gland, and is the second most common benign parotid salivary gland tumor. A strong association with smoking has been reported. It typically presents as a painless swelling in the lower portion of the parotid gland." "" + "benign neoplasm of salivary gland" "A benign neoplasm that involves the saliva-secreting gland." "" + "obsolete thyroid disease" "" "true" + "obsolete marginal zone B-cell lymphoma" "" "true" + "adenomatous colon polyp" "A polypoid adenoma that arises from and protrudes into the lumen of the colon. Epithelial dysplasia is always present. According to the architectural pattern it is classified as tubular, tubulovillous, or villous." "" + "vascular anomaly" "" + "obsolete inflammatory skin disease" "" "true" + "acute respiratory distress syndrome" "Progressive and life-threatening pulmonary distress in the absence of an underlying pulmonary condition, usually following major trauma or surgery. Cases of neonatal respiratory distress syndrome are not included in this definition." "" + "obsolete episodic ataxia" "" "true" + "basal ganglia cerebrovascular disorder" "A pathological condition caused by impaired blood flow in the basal regions of cerebral hemispheres (basal ganglia), such as infarction; hemorrhage; or ischemia in vessels of this brain region including the lateral lenticulostriate arteries. Primary clinical manifestations include involuntary movements (dyskinesias) and muscle weakness (hemiparesis)." "" + "hereditary hemochromatosis" "An inherited metabolic disorder characterized by iron accumulation in the tissues." "" + "disorder of iron metabolism and transport" "" + "obsolete infantile epileptic encephalopathy" "" "true" + "obsolete developmental dysplasia of the hip" "" "true" + "estrogen-receptor positive breast cancer" "A subtype of breast cancer that is estrogen-receptor positive" "" + "recalcitrant atopic dermatitis" "Moderate to severe atopic dermatitis with allergic sensitisation." "" + "acute pancreatitis" "An acute inflammatory process that leads to necrosis of the pancreatic parenchyma. Signs and symptoms include severe abdominal pain, nausea, vomiting, diarrhea, fever, and shock. Causes include alcohol consumption, presence of gallstones, trauma, and drugs." "" + "sarcopenia" "Progressive decline in muscle mass due to aging which results in decreased functional capacity of muscles." "" + "sporadic Creutzfeld Jacob disease" "Sporadic Creutzfeldt-Jakob disease (sCJD) is the most common type of CJD, accounting for around 85% of cases. The precise cause of sporadic CJD is unclear, but it's been suggested that a normal brain protein changes abnormally ('misfolds') and turns into a prion. Most cases of sporadic CJD occur in adults aged between 45 and 75. On average, symptoms develop at age 60-65 years." "" + "Achenbach syndrome" "A rare disorder which affects the volar surfaces of fingers. Clinical signs include recurrent, spontaneous or post-traumatic bruising of fingers. The clinical course of the resultant hematoma usually follows a pattern of resolution within days." "" + "acneiform dermatitis" "Cutaneous eruptions resembling acne, characterized by the presence of papulonodules, pustules, comedones, or cysts in the face, trunk, and extremities. Causes include infections and the use of certain medications (e.g., antibiotics and steroids)." "" + "acquired keratosis" "Focal or diffuse thickening of the skin not inherited as a primary genetic disorder. Causes include inflammatory skin disorders, infectious disorders, lymphedema, and medications." "" + "acrodermatitis" "An inflammatory skin condition affecting children. It is often associated with Epstein-Barr virus infection, hepatitis B infection or cytomegalovirus infection. It is characterized by the presence of cutaneous rashes and patches on the palms and soles. The trunk is not affected." "" + "acrodermatitis chronica atrophicans" "An acrodermatitis characterized by a chronically progressive course, leading to widespread atrophy of the skin. It is a clinical manifestation of Lyme borreliosis." "" + "allergic urticaria" "A urticaria with a basis in a pathological type I hypersensitivity reaction." "" + "anhidrosis" "Lack of sweating or the ability to sweat when provoked by the appropriate stimulus." "" + "bacterial exanthem" "A bacteria-induced exanthem" "" + "obsolete bullous skin disease" "" "true" + "cholesteatoma" "A pathologic process characterized by the proliferation of keratinizing squamous epithelium resulting in the accumulation of keratin and cells in the middle ear and/or mastoid. It may be congenital or acquired. If left untreated, it may increase in size and destroy adjacent structures." "" + "cholesteatoma of attic" "A cholesteatoma in the attic" "" + "cholesteatoma of middle ear" "A non-neoplastic lesion characterized by the proliferation of keratinizing squamous epithelium in the middle ear that results in the accumulation of keratin and cells. It is usually caused by repeated infections. If left untreated, it may increase in size and destroy the adjacent delicate bones of the middle ear." "" + "cholesteatoma of external ear" "A cholesteatoma (disease) that involves the external ear." "" + "cholinergic urticaria" "A type of physical urticarias (or hives) that appears when a person is sweating." "" + "physical urticaria" "A distinct subgroup of the urticaria that are induced by an exogenous physical stimulus rather than occurring spontaneously." "" + "obsolete cicatricial pemphigoid" "" "true" + "congenital generalized lipodystrophy" "An extremely rare autosomal recessive condition, characterized by an extreme scarcity of fat in the subcutaneous tissues." "" + "generalized lipodystrophy" "Almost complete absence of subcutaneous and/or visceral adipose tissue." "" + "genetic lipodystrophy" "Genetic lipodystrophy." "" + "conjunctival pigmentation" "Pigmented lesions that arise from the conjunctiva include nevus, complexion-associated melanosis (CAM), primary acquired melanosis (PAM), and malignant melanoma.1,2All of these lesions arise from melanocytes. However, a number of other lesions have a similar appearance but a different source, such as pigment deposits from silver and iron." "" + "obsolete dermatitis herpetiformis" "" "true" + "diffuse lipomatosis" "A neoplastic process characterized by a diffuse poorly circumscribed overgrowth of adipose tissue. It has been associated with several genetic disorders and different clinical conditions such as liver disease, excessive alcohol intake, adrenocortical steroid therapy, and antiretroviral therapy." "" + "lipomatosis" "A neoplastic process characterized by diffuse overgrowth of mature adipose tissue." "" + "dyshidrosis" "A recurrent eczematous reaction characterized by the development of vesicular eruptions on the palms and soles, particularly along the sides and between the digits. It is accompanied by pruritus, a burning sensation, and hyperhidrosis. The disease is self-limiting, lasting only a few weeks. (Dorland, 27th ed)" "" + "epidermolysis bullosa" "Epidermolysis bullosa (EB) is a group of genetic skin diseases that cause the skin to blister very easily. Blisters form in response to minor injuries or friction, such as rubbing or scratching. There are four main types of epidermolysis bullosa: dystrophic epidermolysis bullosa Epidermolysis bullosa simplex Junctional epidermolysis bullosa Kindler Syndrome Identifying the exact type can be hard because there are many subtypes of EB. Within each type or subtype, a person may be mildly or severely affected. The disease can range from being a minor inconvenience to completely disabling, and fatal in some cases. Most types of EB are inherited. The inheritance pattern may be autosomal dominant or autosomal recessive. Management involves protecting the skin, reducing friction against the skin, and keeping the skin cool." "" + "obsolete epidermolysis bullosa acquisita" "A chronic autoimmune inflammatory disorder characterized by the formation of subepidermal blisters in the skin and the mucous membranes." "" "true" + "epidermolysis bullosa dystrophica" "A genetic skin disorder caused by mutations in the type VII collagen gene (COL7A1). It is characterized by the formation of blisters and scarring in the skin and mucous membranes." "" + "inherited epidermolysis bullosa" "Inherited epidermolysis bullosa (EB) encompasses a number of disorders characterized by recurrent blister formation as the result of structural fragility within the skin and selected other tissues." "" + "erythema infectiosum" "A self-limited viral infectious disorder caused by the human parvovirus B19. It affects predominantly children and is characterized by the development of a bright red skin eruption in the cheeks. It is followed by a maculopapular skin eruption in the extremities which eventually fades into a lacey pattern." "" + "viral exanthem" "A virus-induced exanthem" "" + "erythema multiforme" "Erythema multiforme (EM) refers to a group ofhypersensitivity disorders characterized by symmetric red, patchy lesions, primarily on the arms and legs. The cause is unknown, but EM frequently occurs in association with herpes simplex virus, suggesting an immunologic process initiated by the virus. In half of the cases, the triggering agents appear to be medications, including anticonvulsants, sulfonamides, nonsteroidal anti-inflammatory drugs, and other antibiotics. In addition, some cases appear to be associated with infectious organisms such as Mycoplasma pneumoniae and many viral agents. Erythema multiforme is the mildest of three skin disorders that are often discussed in relation to each other. It is generally the mildest of the three. More severe is Stevens-Johnson syndrome. The most severe of the three is toxic epidermal necrolysis (TEN)." "" + "erythematosquamous dermatosis" "A skin condition that primarily affects the scalp and face and presents as scaly inflammation. Examples include itchy, dry skin and dandruff." "" + "facial dermatosis" "Facial Dermatosis, also known as facial dermatoses, is related tolipogranulomatosis. An important gene associated with Facial Dermatosis isCCNE1(cyclin E1). The drugsbetamethasoneandbetamethasone acetatehave been mentioned in the context of this disorder." "" + "fibroepithelial polyp of the anus" "A non-neoplastic polypoid lesion that arises from the anal canal or perianal skin. It is composed of dense fibrous stroma and it is covered by squamous epithelium." "" + "anal polyp" "A non-neoplastic or neoplastic polypoid lesion that arises from the anus. Representative examples include the fibroepithelial polyp and squamous papilloma." "" + "fibroepithelial polyp of urethra" "A benign polypoid lesion of mesodermal origin that arises from the urethra." "" + "alopecia mucinosa" "A rare dermatologic disorder characterized by the accumulation of mucinous material in the hair follicles. In some cases it is associated with lymphoproliferative disorders, most often mycosis fungoides and Hodgkin lymphoma." "" + "cutaneous focal mucinosis" "" + "sebaceous gland anomaly" "A epidermal appendage anomaly that involves the sebaceous gland." "" + "Fox-Fordyce disease" "Fox-Fordyce disease isa chronic skin diseasemost common in women aged 13-35 years.It is characterized by the development of intense itching in the underarm area, the pubic area, and around the nipple of the breast as a result of perspiration which becomes trapped in the sweat gland and surrounding areas. The cause is unknown,but heat, humidity, and stress may play a role. Treatment may include the use of retinoids, antibiotics, and immunosuppressants." "" + "granuloma annulare" "Granuloma annulare is a long-term (chronic) skin disease consisting of a rash with reddish bumps arranged in a circle or ring. The most commonly affected areas are the forearms, hands and feet. The lesions associated with granuloma annulare usually resolve without treatment. Strong steroids (applied as a cream or injection) are sometimes used to clear the rash more quickly. Most symptoms will disappear within 2 years (even without treatment), but recurrence is common. The underlying cause of granuloma annulare is unknown." "" + "granulomatous dermatitis" "An inflammatory reaction of the skin to various organic and inorganic antigens. It is characterized by tumor-like masses or nodules of granulomatous tissue comprised of activated histiocytes, epitheliod cells, and multinucleated giant cells." "" + "hand dermatosis" "Skin conditions characterised by dense infiltration of inflammatory cells (neutrophils) in the affected tissue. They arise in reaction to some underlying systemic illness. A neutrophilic dermatosis may be seen in isolation or more than one type may occur in the same individual." "" + "hemangioma of subcutaneous tissue" "A hemangioma arising from the subcutaneous soft tissues." "" + "pemphigoid gestationis" "A rare pregnancy-associated autoimmune skin disease that is characterised by an itchy rash that develops into blisters. It is most common during the second and third trimesters of pregnancy. It was previously known as herpes gestationis although it has no association with the herpes virus whatsoever." "" + "pemphigus" "Pemphigus is a group of rare autoimmune diseases that cause blistering of the skin and mucous membranes (mouth, nose, throat, eyes, and genitals).This conditioncan occur at any age, but often strikes people in middle or older age. Studies have shown that some populations may be at greater risk for certain types of pemphigus. For instance, people of Jewish descent and those from India, Southeast Europe, and the Middle East are at greater risk for pemphigus vulargis, while pemphigus foliaceus is more common in North America, Turkey, and South America. Pemphigus is a chronic disease which is best controlled by early diagnosis and treatment.Treatment includes steroids to reduce inflammation,drugs that suppress the immune system responseand antibiotics to treat associated infections. There are four main types of pemphigus: Pemphigus vulgaris Pemphigus foliaceus IgA pemphigus Paraneoplastic pemphigus" "" + "hidradenitis suppurativa" "A chronic suppurative and cicatricial disease of the apocrine glands occurring chiefly in the axillae in women and in the groin and anal regions in men. It is characterized by poral occlusion with secondary bacterial infection, evolving into abscesses which eventually rupture. As the disease becomes chronic, ulcers appear, sinus tracts enlarge, fistulas develop, and fibrosis and scarring become evident." "" + "hypohidrosis" "Reduced sweating. Causes include burns, dehydration, radiation, and leprosy." "" + "eyelid hypopigmentation" "Under-production of pigment in the eyelid." "" + "obsolete incontinentia pigmenti achromians" "" "true" + "inverted follicular keratosis" "Seborrheic keratosis that arises from follicular structures in the skin. It presents as a solitary nodule in the skin and is characterized by the presence of prominent squamous eddies." "" + "irritant dermatitis" "An inflammatory skin condition caused by direct contact between the skin and an irritating substance. It is typically manifested by erythema, mild edema, and scaling at the affected site." "" + "juvenile dermatitis herpetiformis" "Dermatitis herpetiformis in children" "" + "dermatitis herpetiformis" "Dermatitis herpetiformis (DH) is a chronic autoimmune subepidermal bullous disease characterized by grouped pruritic lesions such as papules, urticarial plaques, erythema, and herpetiform vesiculae, with a predominantly symmetrical distribution on extensor surfaces of the elbows (90%), knees (30%), shoulders, buttocks, sacral region, and face of children and adults. Erosions, excoriations and hyperpigmentation usually follow. DH may also appear as a consequence of gluten intolerance." "" + "keratinization disease" "" + "kernicterus due to isoimmunization" "Encephalopathy in infants due to high levels of unconjugated bilirubin that are a result of Rh incompatibility between the mother and the fetus." "" + "neonatal jaundice" "Jaundice that appears during the neonatal period. In the majority of cases, it appears in the first week of life and is classified as physiologic due to accelerated destruction of erythrocytes and liver immaturity. In a minority of cases it is classified as non-physiologic, appearing in the first twenty four hours after birth, and is associated with underlying diseases including hemolytic disorders, polycythemia, and cephalohematoma." "" + "bilirubin encephalopathy" "" + "obsolete Kimura disease" "" "true" + "leg dermatosis" "A nonspecific term used to denote any cutaneous lesion or group of lesions, or eruptions of any type on the leg. (From Stedman, 25th ed)" "" + "lichen disease" "A long-term skin condition that mainly affects the skin of the genitals. It usually causes itching and white patches to appear on the affected skin." "" + "lichen nitidus" "A chronic inflammatory disease characterized by shiny, flat-topped, usually flesh-colored micropapules no larger than the head of a pin. Lesions are localized in the early stages, found chiefly on the lower abdomen, penis, and inner surface of the thighs. Distribution may become generalized as the disease progresses." "" + "lichen planus" "A chronic, recurrent, pruritic inflammatory disorder of unknown etiology that affects the skin and mucus membranes. It presents with rashes and papules that tend to resolve spontaneously. It may be associated with hepatitis C. Certain drugs that contain arsenic or bismuth are associated with reactions mimicking lichen planus." "" + "lipodystrophy" "A congenital or acquired disorder characterized by abnormal loss or redistribution of the adipose tissue in the body." "" + "obsolete loiasis" "" "true" + "Ludwig's angina" "Severe cellulitis of the submaxillary space with secondary involvement of the sublingual and submental space. It usually results from infection in the lower molar area or from a penetrating injury to the mouth floor. (From Dorland, 27th ed)" "" + "maxillary sinus cholesteatoma" "A rare, progressive, non-neoplastic pathologic process that arises from the maxillary sinus mucosal epithelium. It is characterized by the proliferation of keratinizing squamous epithelium and the formation of keratin sheets. It may lead to bone erosion and infections. Surgical removal is the appropriate treatment." "" + "mediastinal lipomatosis" "A neoplastic process characterized by a diffuse poorly circumscribed overgrowth of adipose tissue in the mediastinum." "" + "melanoacanthoma" "A benign, darkly pigmented skin lesion characterized by proliferation of keratinocytes and melanocytes." "" + "miliaria" "A small (one mm or less) vesicular, papular or pustular monomorphous rash, which is associated with heat, fever or occlusion of sweat glands." "" + "miliaria rubra" "Miliaria rubraor prickly heat occurs deeper in the epidermis (outside layer of skin) and results in very itchy red papules (bumps)." "" + "mongolian spot" "A benign, flat, congenital birthmark, with wavy borders and an irregular shape. The colour is caused by melanocytes, melanin-containing cells, that are usually located in the surface of the skin (the epidermis), but are in the deeper region (the dermis) in the location of the spot." "" + "necrobiosis lipoidica" "Necrobiosis lipoidica is a rare skin disorder of collagen degeneration. It is characterized by a rash that occurs on the lower legs. It is more common in women, and there are usually several spots. They are slightly raised shiny red-brown patches. The centers are often yellowish and may develop open sores that are slow to heal. Infections can occur but are uncommon. Some patients have itching, pain, or abnormal sensations. It usually occurs more often in people with diabetes, in people with a family history of diabetes or a tendency to get diabetes, but can occur in nondiabetic people. About 11% to 65% of patients with necrobiosis lipoidica also have diabetes, but the exact cause is still not known. Treatment is difficult. The disease is typically chronic with variable progression and scarring." "" + "neurodermatitis" "Skin findings arising from repeated rubbing, picking or scratching of a real or imagined irritation of the skin." "" + "neurotic excoriation" "A condition in which patients produce skin lesions through repetitive, compulsive excoriation of their skin." "" + "obsolete nodular nonsuppurative panniculitis" "" "true" + "nonepidermolytic palmoplantar keratoderma" "Non-epidermolytic palmoplantar keratoderma is characterised by a diffuse non-epidermolytic palmoplantar keratoderma with frequent fungal infections. Prevalence in the general population is estimated at 1 in 40,000 but is much higher in northern Sweden (0.3-0.55%). Transmission is autosomal dominant and the causative gene has been localised to chromosome 12q11-q13." "True" + "isolated diffuse palmoplantar keratoderma" "A diffuse palmoplantar keratoderma that is not part of a larger syndrome." "" + "occupational dermatitis" "Contact dermatitis associated with allergens or irritants found in the workplace." "" + "palmoplantar keratosis" "A group of autosomal dominant, autosomal recessive, X-linked inherited or acquired disorders characterized by the thickening of the palms and soles due to hyperkeratosis." "" + "panniculitis" "Inflammation of the subcutaneous adipose tissue." "" + "parapsoriasis" "Parapsoriasis describes a group ofskin diseases that can be characterized by scaly patches or slightly elevated papules and/or plaques (red, scaly patches) that have a resemblance to psoriasis. However, this description includes several inflammatory cutaneous diseases that are unrelated with respect to pathogenesis, histopathology, and response to treatment. Because of the variation in clinical presentation and a lack of a specific diagnostic finding on histopathology, a uniformly accepted definition of parapsoriasis remains lacking. There are 2 general forms: a small plaque type, which is usually benign, and a large plaque type, which is a precursor of cutaneous T-cell lymphoma (CTCL).Treatment of small plaque parapsoriasis is unnecessary but can include emollients, topical tar preparations or corticosteroids, and/or phototherapy. Treatment of large plaque parapsoriasis is phototherapy or topical corticosteroids." "" + "pelvic lipomatosis" "A neoplastic process characterized by a diffuse poorly circumscribed overgrowth of adipose tissue in the pelvic region. Clinical presentation includes complaints of back and abdominal pain, urinary frequency, perineal pain and constipation. It predominately affects black males." "" + "autoimmune bullous skin disease" "An autoimmune disease characterized by blisters on the skin." "" + "perinatal jaundice due to hepatocellular damage" "Jaundice in perinates due to cellular damange of liver." "" + "photoallergic dermatitis" "A delayed hypersensitivity involving the reaction between sunlight or other radiant energy source and a chemical substance to which the individual has been previously exposed and sensitized. It manifests as a papulovesicular, eczematous, or exudative dermatitis occurring chiefly on the light-exposed areas of the skin." "" + "radiodermatitis" "A cutaneous inflammatory reaction occurring as a result of exposure to biologically effective levels of ionizing radiation." "" + "phototoxic dermatitis" "Dermatitis caused or precipitated by exposure to ultraviolet sunlight, or by mediating phototoxic or photoallergic material in response to ultraviolet sunlight." "" + "porokeratosis" "A clonal proliferation of abnormal keratinocytes characterized by the development of localized or multiple atrophic skin patches surrounded by an annular keratotic ring called cornoid lamella." "" + "epidermal disease" "A skin disease that involves the epidermis." "" + "rosacea" "A chronic erythematous skin disorder that affects the face. It is characterized by the development of redness in the cheeks, nose, and/or forehead and telangiectasia. Sometimes, the erythematous changes may involve the eyelids." "" + "scalp dermatosis" "Dermotosis of scalp" "" + "scleredema adultorum" "A usually benign and self-limited skin disorder of unknown etiology, characterized by induration of the skin. It may be associated with infection, diabetes mellitus, and hematologic malignancies. Morphologically, there is deposition of mucin in the dermis." "" + "seborrheic dermatitis" "A chronic, inflammatory skin disorder that affects the scalp, central face and skin folds; it is characterized by scaling and itching." "" + "seborrheic infantile dermatitis" "Excessive shedding of dry scaly material from the scalp in humans." "" + "skin atrophy" "The degeneration and thinning of the epidermis and dermis. It is usually a manifestation of aging." "" + "skin sarcoidosis" "Formation of non-necrotizing granulomas in the skin. It may be a manifestation of systemic sarcoidosis or may also arise in isolation." "" + "steroid lipomatosis" "A neoplastic process characterized by a diffuse poorly circumscribed overgrowth of adipose tissue in the face, upper middle back, and sternal region. It is associated with adrenocortical steroid therapy or an increase in endogenous adrenocortical hormone." "" + "stromal corneal pigmentation" "Stromal pigmentation such as that in ochronosis results from chronic irritation. The melanin is in the superficial stroma and the basal layer of the corneal epithelium." "" + "subcorneal pustular dermatosis" "A rare, benign, chronic disease characterized by sterile pustular eruption, typically involving the flexural sites of the trunk and proximal extremities." "" + "toxicodendron dermatitis" "An allergic contact dermatitis caused by exposure to plants of the genus Toxicodendron (formerly Rhus). These include poison ivy, poison oak, and poison sumac, all plants that contain the substance urushiol, a potent skin sensitizing agent. (From Dorland, 27th ed)" "" + "vibratory urticaria" "This very rare form of angioedema develops in reply to contact with vibration. In vibratory angioedema, symptoms develop within two to five minutes after contact with vibration and dissolve after about an hour. Patients with this disorder do not suffer from dermographism or pressure urticaria. Vibratory angioedema is diagnosed by holding a vibrating device such as a laboratory vortex machine against the forearm for four minutes. Speedy swelling of the whole forearm extending into the upper arm is also noted later. The principal treatment is avoidance of vibratory stimulants. Antihistamines have also been proven helpful." "" + "vulva fibroepithelial polyp" "A polypoid lesion that arises from the vulva and is characterized by the presence of fibrovascular stroma lined by squamous epithelium. There is no evidence of epithelial atypia." "" + "polyp of vulva" "A polyp that involves the mammalian vulva." "" + "vulvar inverted follicular keratosis" "Seborrheic keratosis that arises from follicular structures in the vulva. It is characterized by the presence of prominent squamous eddies." "" + "vulvar seborrheic keratosis" "A benign squamous neoplasm that arises from the vulva. It is characterized by the proliferation of the basal cells in the squamous epithelium, acanthosis, hyperkeratosis, and cysts formation." "" + "inherited skin tumor" "" + "obsolete autoimmune pancreatitis type 1" "" "true" + "overactive bladder" "Symptom of overactive detrusor muscle of the urinary bladder that contracts with abnormally high frequency and urgency. Overactive bladder is characterized by the frequent feeling of needing to urinate during the day, during the night, or both. urinary incontinence may or may not be present." "" + "altitude sickness" "Multiple symptoms associated with reduced oxygen at high altitude." "" + "obsolete microscopic polyangiitis" "" "true" + "obsolete Sezary disease" "" "true" + "osteoarthritis, hip" "Noninflammatory degenerative disease of the hip joint which usually appears in late middle or old age. It is characterized by growth or maturational disturbances in the femoral neck and head, as well as acetabular dysplasia. A dominant symptom is pain on weight-bearing or motion." "" + "osteoarthritis, spine" "A degenerative joint disease involving the spine. It is characterized by progressive deterioration of the spinal articular cartilage (cartilage, articular), usually with hardening of the subchondral bone and outgrowth of bone spurs (osteophyte)." "" + "osteoarthritis, toe" "Osteoarthritis of the foot generally affects the joint at the base of your big toe. It can cause your toe to: - become stiff over time, which can make it difficult and painful to walk – this is called hallux rigidus - become bent, which can lead to painful bunions (bony lumps at the base of your big toe) – this is called hallux valgus. Osteoarthritis of the mid-foot is also quite common, especially in older people, and may cause an obvious bony swelling (osteophyte) on the top of your mid-foot. Ankle osteoarthritis is least common and may cause your heel to move to an unusual angle." "" + "osteoarthritis, hand" "Osteoarthritis of the hands usually happens as part of nodal osteoarthritis (a form of osteoarthritis that runs in families). This mainly affects women and often starts in your 40s or 50s, around the menopause (the time when menstruation ends and it’s no longer possible to have children)." "" + "acalculous cholecystitis" "Inflammation of the gallbladder in the absence of gallstones." "" + "pituitary gland acidophil adenoma" "An epithelial neoplasm of the anterior pituitary gland in which the neoplastic cells stain positive with acidic dyes." "" + "Acinetobacter infectious disease" "Infections with bacteria of the genus acinetobacter." "" + "Moraxellaceae infectious disease" "Infections with bacteria of the family moraxellaceae." "" + "acute kidney tubular necrosis" "Acute renal failure caused by the cell death of the renal tubules. Causes include nephrotoxins, cytotoxic drugs, and antibiotics." "" + "acute retinal necrosis syndrome" "Mild to fulminant necrotizing vaso-occlusive retinitis associated with a high incidence of retinal detachment and poor vision outcome." "" + "adrenal cortex carcinoma" "A rare, usually large (greater than 5cm), malignant epithelial tumor arising from the adrenal cortical cells. Symptoms are usually related to the excessive production of hormones, and include Cushing's syndrome and virilism in women. Common sites of metastasis include liver, lung, bone, and retroperitoneal lymph nodes. Advanced radiologic procedures have enabled the detection of small tumors, resulting in the improvement of the 5-year survival." "" + "adrenal/paraganglial tumor" "" + "malignant tumor of adrenal cortex" "A cancer that involves the adrenal cortex." "" + "ACTH-independent Cushing syndrome due to rare cortisol-producing adrenal tumor" "True" + "afferent loop syndrome" "A complication of gastrojejunostomy (billroth II procedure), a reconstructive gastroenterostomy. It is caused by acute (complete) or chronic (intermittent) obstruction of the afferent jejunal loop due to hernia, intussusception, kinking, volvulus, etc. It is characterized by pain and vomiting of bile-stained fluid." "" + "alcohol withdrawal delirium" "An acute organic mental disorder induced by cessation or reduction in chronic alcohol consumption. Clinical characteristics include confusion; delusions; vivid hallucinations; tremor; agitation; insomnia; and signs of autonomic hyperactivity (e.g., elevated blood pressure and heart rate, dilated pupils, and diaphoresis). This condition may occasionally be fatal. It was formerly called delirium tremens. (From Adams et al., Principles of Neurology, 6th ed, p1175)" "" + "alcoholic cardiomyopathy" "A dilated cardiomyopathy which is associated with consumption of large amounts of alcohol over a period of years." "" + "alcoholic liver cirrhosis" "A disorder of the liver characterized by the presence of fibrotic scar tissue instead of healthy liver tissue. This condition is attributed to excessive consumption of alcoholic beverages." "" + "alcoholic polyneuropathy" "Any disease affecting more than one nerve." "" + "anterior cerebral artery infarction" "Necrosis occurring in the anterior cerebral artery system, including branches such as Heubner's artery. These arteries supply blood to the medial and superior parts of the cerebral hemisphere, Infarction in the anterior cerebral artery usually results in sensory and motor impairment in the lower body." "" + "anterior compartment syndrome" "Rapid swelling, increased tension, pain, and ischemic necrosis of the muscles of the anterior tibial compartment of the leg, often following excessive physical exertion." "" + "anterior spinal artery syndrome" "Ischemia or infarction of the spinal cord in the distribution of the anterior spinal artery, which supplies the ventral two-thirds of the spinal cord. This condition is usually associated with atherosclerosis of the aorta and may result from dissection of an aortic aneurysm or rarely dissection of the anterior spinal artery. Clinical features include weakness and loss of pain and temperature sensation below the level of injury, with relative sparing of position and vibratory sensation. (From Adams et al., Principles of Neurology, 6th ed, pp1249-50)" "" + "anthracosilicosis" "Fibrosis of the lung parenchyma caused by inhalation of carbon and silica dust. It manifests as shortness of breath." "" + "anthracosis" "A chronic lung disorder characterized by deposition of coal dust in the lung parenchyma leading to the formation of black nodules and emphysema. It occurs in coal miners." "" + "aortic valve prolapse" "The downward displacement of the cuspal or pointed end of the trileaflet aortic valve causing misalignment of the cusps. Severe valve distortion can cause leakage and allow the backflow of blood from the ascending aorta back into the left ventricle, leading to aortic regurgitation." "" + "aortitis" "Inflammation of the aorta. Causes include trauma, infectious disorders, and connective tissue disorders." "" + "apparent mineralocorticoid excess syndrome" "An autosomal recessive disorder caused by a deficiency of 11-beta-hydroxysteroid dehydrogenase, which is characterized by hypertension, hypokalemia, low renin, and hypoaldosteronism." "" + "syndromic dyslipidemia" "A inherited lipid metabolism disorder that is part of a larger syndrome." "" + "arteriolosclerosis" "The thickening of the wall of the small arteries and arterioles. It is caused by deposition of hyaline material in the wall or concentric smooth muscle wall hypertrophy. It results in lumen narrowing and tissue ischemia." "" + "coronary atherosclerosis" "Atherosclerosis of the coronary vasculature." "" + "arteriosclerosis obliterans" "Common occlusive arterial disease which is caused by atherosclerosis. It is characterized by lesions in the innermost layer (arterial intima) of arteries including the aorta and its branches to the extremities. Risk factors include smoking, hyperlipidemia, and hypertension." "" + "arthus reaction" "A localized vasculitis resulting from deposition of antibody-antigen complexes." "" + "type III hypersensitivity disease" "Group of diseases mediated by the deposition of large soluble complexes of antigen and antibody with resultant damage to tissue. Besides serum sickness and the arthus reaction, evidence supports a pathogenic role for immune complexes in many other immune system diseases including glomerulonephritis, systemic lupus erythematosus (lupus erythematosus, systemic) and polyarteritis nodosa." "" + "ascorbic acid deficiency" "A condition due to a dietary deficiency of ascorbic acid (vitamin C), characterized by malaise, lethargy, and weakness. As the disease progresses, joints, muscles, and subcutaneous tissues may become the sites of hemorrhage. Ascorbic acid deficiency frequently develops into scurvy in young children fed unsupplemented cow's milk exclusively during their first year. It develops also commonly in chronic alcoholism. (Cecil Textbook of Medicine, 19th ed, p1177)" "" + "aseptic meningitis" "Inflammation of the membranes surrounding the brain and spinal cord without a bacterial pathogen." "" + "viral meningitis" "Inflammation of the membranes surrounding the brain and spinal cord due to a viral infection." "" + "perinatal asphyxia" "A disorder caused by a lack of blood flow or gas exchange to or from the fetus in the period immediately before, during, or after the birth process." "" + "atrial septal defect" "Interauricular communication is a congenital malformation characterized by a communication between the atrial chambers of the heart." "" + "genetic cardiac anomaly" "" + "atrial defect and interatrial communication" "" + "chronic atrophic gastritis" "Atrophic gastritis that is persistent and long-standing." "" + "atrophy of thyroid" "Tissue degeneration and diminished size of the thyroid gland." "" + "obsolete B- and T-cell mixed leukemia" "" "true" + "bacterial endocarditis" "Endocarditis that is caused by an infection with a bacterial agent." "" + "Bacteroides infectious disease" "Infections with bacteria of the genus bacteroides." "" + "Bacteroidaceae infectious disease" "Infections with bacteria of the family BACTEROIDACEAE." "" + "pituitary gland basophil adenoma" "An epithelial neoplasm of the anterior pituitary gland in which the neoplastic cells stain positive with basic dyes." "" + "obsolete benign fibrous mesothelioma" "A rare neoplasm, usually benign, derived from mesenchymal fibroblasts located in the submesothelial lining of the PLEURA. It spite of its various synonyms, it has no features of mesothelial cells and is not related to malignant MESOTHELIOMA or asbestos exposure." "" "true" + "obsolete benign monoclonal gammopathy" "" "true" + "beriberi" "Beriberi is a condition that occurs in people who are deficient in thiamine (vitamin B1). There are two major types of beriberi: wet beriberi which affects the cardiovascular system and dry beriberi which affects the nervous system. People with wet beriberi may experience increased heart rate, shortness of breath, and swelling of the lower legs. Signs and symptoms of dry beriberi include difficulty walking; loss of feeling in the hands and/or feet; paralysis of the lower legs; mental confusion; speech difficulty; pain; and/or vomiting. Beriberi is rare in the United States since many foods are now vitamin enriched; however, alcohol abuse, dialysis and taking high doses of diuretics increases the risk of developing the condition. In most cases,beriberi occurs sporadically in people with no family history of the condition. A rare condition known as genetic beriberi is inherited (passed down through families) and is associated with an inability to absorb thiamine from foods. Treatment generally includes thiamine supplementation, given by injection or taken by mouth." "" + "Wernicke-Korsakoff syndrome" "Wernicke-Korsakoff syndrome is a brain disorder, due to thiamine deficiency that has been associated with both Wernicke's encephalopathy and Korsakoff syndrome. The term refers to two different syndromes, each representing a different stage of the disease. Wernicke's encephalopathy represents the 'acute' phase and Korsakoff's syndrome represents the 'chronic' phase. However, they are used interchangeable in many sites. Wernicke's encephalopathy is characterized by confusion, abnormal stance and gait (ataxia), and abnormal eye movements (nystagmus). Korsakoff's syndrome is observed in a small number of patients. It is a type of dementia, characterized by memory loss and confabulation (filling in of memory gaps with data the patient can readily recall) and involvement of the heart, vascular, and nervous system. Wernicke-Korsakoff syndrome mainly results from chronic alcohol use, but also from dietary deficiencies, prolonged vomiting, eating disorders, systemic diseases (cancer, AIDS, infections), bariatric surgery, transplants, or the effects of chemotherapy. Studies indicate that there may be some genetic predisposition for the disease.Treatment involves supplementing the diet with thiamine. Wernicke encephalopathy is an acute syndrome and requires emergency treatment to prevent death and neurologic complications. In cases where the diagnosis is not confirmed, patients should still be treated while additional evaluations are completed." "" + "bile reflux" "Retrograde bile flow. Reflux of bile can be from the duodenum to the stomach (duodenogastric reflux); to the esophagus (gastroesophageal reflux); or to the pancreas." "" + "bladder neck obstruction" "Blockage of the opening between the bladder and the urethra resulting in the reduction or prevention of the urine flow from the bladder into the urethra." "" + "blue nevus" "An intradermal nevus characterized by the presence of benign pigmented dendritic spindle-shaped melanocytes. It most frequently occurs in the skin of the distal upper extremities, followed by the lower extremities, scalp, face, and buttocks. It usually presents as a single blue or blue-black papular lesion less than 1cm in diameter. Simple excision is usually curative." "" + "Borrelia infectious disease" "Infections with bacteria of the genus borrelia." "" + "brachial plexus neuritis" "An inflammatory process affecting the brachial plexus. It results in severe pain in the upper extremity and shoulder, upper arm weakness and loss of sensation in the upper arm." "" + "brain edema" "Increased intracellular or extracellular fluid in brain tissue. Cytotoxic brain edema (swelling due to increased intracellular fluid) is indicative of a disturbance in cell metabolism, and is commonly associated with hypoxic or ischemic injuries (see hypoxia, brain). An increase in extracellular fluid may be caused by increased brain capillary permeability (vasogenic edema), an osmotic gradient, local blockages in interstitial fluid pathways, or by obstruction of csf flow (e.g., obstructive hydrocephalus). (From Childs Nerv Syst 1992 Sep; 8(6):301-6)" "" + "brain hypoxia - ischemia" "A disorder characterized by a reduction of oxygen in the blood combined with reduced blood flow (ischemia) to the brain from a localized obstruction of a cerebral artery or from systemic hypoperfusion. Prolonged hypoxia-ischemia is associated with ischemic attack, transient; brain infarction; brain edema; coma; and other conditions." "" + "brain stem infarction" "Infarctions that occur in the brain stem which is comprised of the midbrain; pons; and medulla oblongata. There are several named syndromes characterized by their distinctive clinical manifestations and specific sites of ischemic injury." "" + "burning mouth syndrome" "A condition characterized by a burning or tingling sensation on the lips, tongue, or entire mouth." "" + "headache disorder" "Various conditions with the symptom of headache. Headache disorders are classified into major groups, such as primary headache disorders (based on characteristics of their headache symptoms) and secondary headache disorders (based on their etiologies). (International Classification of Headache Disorders, 2nd ed. Cephalalgia 2004: suppl 1)" "" + "byssinosis" "An occupational lung disorder caused by exposure to cotton dust. It occurs more commonly in workers in the textile industry. Signs and symptoms include chest tightness, cough and wheezing. The symptoms tend to get worse at the beginning of the week and subside by the end of the week." "" + "obsolete carcinoid syndrome" "" "true" + "carotid artery thrombosis" "Blood clot formation in any part of the carotid arteries. This may produce carotid stenosis or occlusion of the vessel, leading to transient ischemic attack; cerebral infarction; or amaurosis fugax." "" + "obsolete causalgia" "" "true" + "central pontine myelinolysis" "A central nervous system disorder caused by demyelination within the central basis pontis of the brain. It is characterized by spastic quadriplegia, pseudobulbar palsy and encephalopathy. It is observed in patients with severe hyponatremia, particularly when the hyponatremia is corrected too rapidly." "" + "intracranial arterial disease" "Pathological conditions involving arteries in the skull, such as arteries supplying the cerebrum, the cerebellum, the brain stem, and associated structures. They include atherosclerotic, congenital, traumatic, infectious, inflammatory, and other pathological processes." "" + "cerebral atherosclerosis" "Atherosclerosis of the cerebral vasculature." "" + "obsolete cervical rib syndrome" "" "true" + "cervix erosion" "Loss or destruction of the epithelial lining of the uterine cervix." "" + "obsolete Chlamydophila infectious disease" "" "true" + "cholecystolithiasis" "Single or multiple, ovoid or irregular, solid particles that are formed from bile, cholesterol, and calcium in the gallbladder cavity." "" + "choledocholithiasis" "Presence or formation of gallstones in the common bile duct." "" + "choroid neoplasm" "A neoplasm (disease) that involves the optic choroid." "" + "chromophobe adenoma" "An epithelial neoplasm of the anterior pituitary gland in which the neoplastic cells do not stain with acidic or basic dyes." "" + "chronic inflammatory demyelinating polyradiculoneuropathy" "A rare neurological disorder in which there is inflammation of nerve roots and peripheral nerves and destruction of the fatty protective covering (myelin sheath) over the nerves. This affects how fast the nerve signals are transmitted and leads to loss of nerve fibers. This causes weakness, paralysis and/or impairment in motor function, especially of the arms and legs (limbs). Sensory disturbance may also be present. The motor and sensory impairments usually affect both sides of the body (symmetrical), and the degree of severity and the course of disease may vary from case to case. Some affected individuals may follow a slow steady pattern of symptoms while others may have symptoms that stabilize and then relapse." "" + "obsolete chronic interstitial cystitis" "" "true" + "" "true" + "Desulfovibrionaceae infectious disease" "Infections with bacteria of the family Desulfovibrionaceae." "" + "complex partial epilepsy" "A disorder characterized by recurrent partial seizures marked by impairment of cognition. During the seizure the individual may experience a wide variety of psychic phenomenon including formed hallucinations, illusions, deja vu, intense emotional feelings, confusion, and spatial disorientation. Focal motor activity, sensory alterations and automatism may also occur. Complex partial seizures often originate from foci in one or both temporal lobes. The etiology may be idiopathic (cryptogenic partial complex epilepsy) or occur as a secondary manifestation of a focal cortical lesion (symptomatic partial complex epilepsy). (From Adams et al., Principles of Neurology, 6th ed, pp317-8)" "" + "constrictive pericarditis" "A heart disorder in which the pericardial sac becomes thickened and fibrotic, tightening the myocardium and impeding the normal myocardial function." "" + "coronary aneurysm" "Abnormal balloon- or sac-like dilatation in the wall of coronary vessels. Most coronary aneurysms are due to coronary atherosclerosis, and the rest are due to inflammatory diseases, such as kawasaki disease." "" + "heart aneurysm" "A localized bulging or dilatation in the muscle wall of a heart (myocardium), usually in the left ventricle. Blood-filled aneurysms are dangerous because they may burst. Fibrous aneurysms interfere with the heart function through the loss of contractility. True aneurysm is bound by the vessel wall or cardiac wall. False aneurysms are hematoma caused by myocardial rupture." "" + "coronary thrombosis" "Coagulation of blood in any of the coronary vessels. The presence of a blood clot (thrombus) often leads to myocardial infarction." "" + "cutaneous fibrous histiocytoma" "A benign, intermediate, or malignant mesenchymal neoplasm composed of fibrohistiocytic cells, spindle fibroblastic cells, and histiocytes, in a storiform pattern." "" + "obsolete cystic lymphangioma" "" "true" + "de Quervain disease" "Stenosing tenosynovitis of the abductor pollicis longus and extensor pollicis brevis tendons in the first dorsal wrist compartment. The presenting symptoms are usually pain and tenderness at the radial styloid. The cause is almost always related to overuse injury or is associated with rheumatoid arthritis." "" + "dental fluorosis" "A condition that results from excessive fluoride ingestion during tooth development, resulting in tooth discoloration ranging from white streaks to brown stains and cracks or pits in the tooth enamel." "" + "denture stomatitis" "Inflammation of the mouth due to denture irritation." "" + "obsolete desmoplastic small round cell tumor" "" "true" + "obsolete diabetic angiopathy" "" "true" + "diaphragmatic eventration" "A congenital or acquired abnormality characterized by elevation of the hemidiaphragm." "" + "diastolic heart failure" "Heart failure caused by abnormal myocardial relaxation during diastole leading to defective cardiac filling." "" + "obsolete discitis" "Inflammation of an intervertebral disc or disk space which may lead to disk erosion. Until recently, discitis has been defined as a nonbacterial inflammation and has been attributed to aseptic processes (e.g., chemical reaction to an injected substance). However, recent studies provide evidence that infection may be the initial cause, but perhaps not the promoter, of most cases of discitis. Discitis has been diagnosed in patients following discography, myelography, lumbar puncture, paravertebral injection, and obstetrical epidural anesthesia. Discitis following chemonucleolysis (especially with chymopapain) is attributed to chemical reaction by some and to introduction of microorganisms by others." "" "true" + "discrete subaortic stenosis" "A type of constriction that is caused by the presence of a fibrous ring (discrete type) below the aortic valve, anywhere between the aortic valve and the mitral valve. It is characterized by restricted outflow from the left ventricle into the aorta." "" + "subvalvular aortic stenosis" "An aortic stenosis caused by fibromuscular stenosis or hypertrophic cardiomyopathy. It may be associated with congenital heart defects." "" + "drug psychosis" "Psychotic organic mental disorders resulting from the toxic effect of drugs and chemicals or other harmful substance." "" + "drug-induced akathisia" "An uncomfortable feeling of inner restlessness and inability to stay still. It can be a side effect of psychotropic medications." "" + "drug-induced dyskinesia" "Abnormal movements, including hyperkinesis; hypokinesia; tremor; and dystonia, associated with the use of certain medications or drugs. Muscles of the face, trunk, neck, and extremities are most commonly affected. Tardive dyskinesia refers to abnormal hyperkinetic movements of the muscles of the face, tongue, and neck associated with the use of neuroleptic agents (see antipsychotic agents). (Adams et al., Principles of Neurology, 6th ed, p1199)" "" + "benign duodenal neoplasm" "A non-metastasizing neoplasm arising from the wall of the duodenum." "" + "duodenogastric reflux" "Retrograde flow of duodenal contents (bile acids; pancreatic juice) into the stomach." "" + "gastroesophageal reflux disease" "A chronic disorder characterized by reflux of the gastric and/or duodenal contents into the distal esophagus. It is usually caused by incompetence of the lower esophageal sphincter. Symptoms include heartburn and acid indigestion. It may cause injury to the esophageal mucosa." "" + "dysplasia of cervix" "Abnormal development of immature squamous epithelial cells of the uterine cervix, a term used to describe premalignant cytological changes in the cervical epithelium. These atypical cells do not penetrate the epithelial basement membrane." "" + "dystocia" "Slow or difficult obstetric labor or childbirth." "" + "eccrine acrospiroma" "A rare cutaneous tumor of eccrine sweat gland origin. It is most commonly found on the extremities and is usually benign. There is no indication that heredity or external agents cause these tumors." "" + "Ehrlich tumor carcinoma" "A transplantable, poorly differentiated malignant tumor which appeared originally as a spontaneous breast carcinoma in a mouse. It grows in both solid and ascitic forms." "" + "empty sella syndrome" "Empty sella syndrome (ESS) is a condition that involves the sella turcica, a bony structure at the base of the brain that protects the pituitary gland. There is a primary and secondary form of the condition. The primary form occurs when a structural defect above the pituitary gland increases pressure in the sella turcica and causes the gland to flatten. The secondary form occurs when the pituitary gland is damaged due to injury, a tumor, surgery or radiation therapy. Some people with ESS have no symptoms. People with secondary ESS may have symptoms of decreased pituitary function such as absence of menstruation, infertility, fatigue, and intolerance to stress and infection. In children, ESS may be associated with early onset of puberty, growth hormone deficiency, pituitary tumors, or pituitary gland dysfunction. Treatment focuses on the symptoms present in each person." "" + "encephalomalacia" "Localized atrophy of the brain parenchyma due to aging, hemorrhage, infarct, or inflammation." "" + "endemic goiter" "Thyroid gland enlargement caused by inadequate dietary iodine intake. It occurs in areas in which the soil lacks iodine compounds or there is low seafood consumption." "" + "endolymphatic hydrops" "An accumulation of endolymph in the inner ear (labyrinth) leading to buildup of pressure and distortion of intralabyrinthine structures, such as cochlea and semicircular canals. It is characterized by sensorineural hearing loss; tinnitus; and sometimes vertigo." "" + "obsolete rare cancer of corpus uteri" "True" "true" + "endomyocardial fibrosis" "A disease characterized by fibrotic thickening of the endocardium, particularly the right and/or left inflow tracts. The disease often involves the atrioventricular valves, leading to valvular regurgitaion. It most commonly occurs in children living within 15 degrees of the equator." "" + "enterotoxemia" "Disease caused by the liberation of exotoxins of clostridium perfringens in the intestines of sheep, goats, cattle, foals, and piglets. Type B enterotoxemia in lambs is lamb dysentery; type C enterotoxemia in mature sheep produces 'struck', and in calves, lambs and piglets it produces hemorrhagic enterotoxemia; type D enterotoxemia in sheep and goats is pulpy-kidney disease or overeating disease." "" + "epilepsia partialis continua" "A variant of epilepsy characterized by continuous focal jerking of a body part over a period of hours, days, or even years without spreading to other body regions. Contractions may be aggravated by movement and are reduced, but not abolished during sleep. electroencephalography demonstrates epileptiform (spike and wave) discharges over the hemisphere opposite to the affected limb in most instances. The repetitive movements may originate from the cerebral cortex or from subcortical structures (e.g., brain stem; basal ganglia). This condition is associated with Russian Spring and Summer encephalitis (see encephalitis, tick borne); Rasmussen syndrome (see encephalitis); multiple sclerosis; diabetes mellitus; brain neoplasms; and cerebrovascular disorders. (From Brain, 1996 April;119(pt2):393-407; Epilepsia 1993;34;Suppl 1:S29-S36; and Adams et al., Principles of Neurology, 6th ed, p319)" "" + "mixed epithelioid and spindle cell melanoma" "A melanoma characterized by the presence of malignant large epithelioid melanocytes and malignant spindle-shaped melanocytes." "" + "obsolete Erdheim-Chester disease" "" "true" + "Erysipelothrix infectious disease" "Infections with bacteria of the genus erysipelothrix." "" + "gram-positive bacterial infections" "Infections caused by bacteria that retain the crystal violet stain (positive) when treated by the gram-staining method." "" + "Escherichia coli meningitis" "A form of gram-negative meningitis that tends to occur in neonates, in association with anatomical abnormalities (which feature communication between the meninges and cutaneous structures) or as opportunistic infections in association with immunologic deficiency syndromes. In premature neonates the clinical presentation may be limited to anorexia; vomiting; lethargy; or respiratory distress. Full-term infants may have as additional features fever; seizures; and bulging of the anterior fontanelle. (From Menkes, Textbook of Child Neurology, 5th ed, pp398-400)" "" + "esophageal diverticulosis" "A pathological condition characterized by the presence of a number of esophageal diverticula in the esophagus." "" + "euthyroid sick syndrome" "Abnormal thyroid function tests, low triiodothyronine with elevated reverse triiodothyronine, in the setting of non-thyroidal illness." "" + "obsolete extracutaneous mastocytoma" "" "true" + "extrahepatic cholestasis" "Impairment of the bile flow caused by an obstruction in the portion of the bile duct system located outside of the liver." "" + "female genital tuberculosis" "Mycobacterium infections of the female reproductive tract (genitalia, female)." "" + "femoral neuropathy" "Neuropathy of the femoral nerve." "" + "fetal erythroblastosis" "A disorder of the fetus or newborn that occurs when fetal cells that are coated with IgG alloantibodies from the mother attack antigens inherited from the father. Severity can range from absence of symptoms to death." "" + "fibromuscular dysplasia" "A disorder characterized by fibrous thickening of the arterial wall resulting in narrowing of the arterial lumen. It most often affects the renal artery and less often the carotid artery and abdominal arteries. It can cause hypertension and aneurysm formation." "" + "freemartinism" "A condition occurring in the female offspring of dizygotic twins (twin, dizygotic) in a mixed-sex pregnancy, usually in cattle. Freemartinism can occur in other mammals. When placental fusion between the male and the female fetuses permits the exchange of fetal cells and fetal hormones, testicular hormones from the male fetus can androgenize the female fetus producing a sterile xx/xy chimeric 'female'(chimerism)." "" + "sex chromosome disorder of sex development" "Congenital conditions of atypical sexual development associated with abnormal sex chromosome constitutions including monosomy; trisomy; and mosaicism." "" + "cattle disease" "Diseases of domestic cattle of the genus Bos. It includes diseases of cows, yaks, and zebus." "" + "frozen shoulder" "Inflammation or irritation of a bursa, the fibrous sac that acts as a cushion between moving structures of bones, muscles, tendons or skin." "" + "Fusobacterium infectious disease" "Infections with bacteria of the genus fusobacterium." "" + "Fusobacteriaceae infectious disease" "Infections with bacteria of the family Fusobacteriaceae, in the order Fusobacterales, phylum fusobacteria." "" + "gait apraxia" "Impaired ambulation not attributed to sensory impairment or motor weakness. frontal lobe disorders; basal ganglia diseases (e.g., parkinsonian disorders); dementia, multi-infarct; alzheimer disease; and other conditions may be associated with gait apraxia." "" + "gastric antral vascular ectasia" "Dilatation of the vessels in the antrum of the stomach. It is associated with portal hypertension, scleroderma, and chronic renal failure. It may cause gastric bleeding." "" + "obsolete gastric outlet obstruction" "Narrowing of the pyloric lumen caused either by hypertrophy of the surrounding muscles or tissue scarring due to a chronic peptic ulcer." "" "true" + "gastroparesis" "Paralysis of the muscles of the stomach wall resulting in delayed emptying of the gastric contents into the small intestine." "" + "giant cell reparative granuloma" "A rare tumor-like lesion of the hands and feet characterized by the presence of hemorrhagic fibrous tissue, hemosiderin deposition, osteoclast-like giant cells which are irregularly distributed, and reactive bone formation. Pain and swelling are the most frequent symptoms. It may recur following curettage, but is usually cured after a second procedure." "" + "obsolete glycogen storage disease VIII" "" "true" + "gonadal tissue neoplasm" "Neoplasms composed of tissues of the ovary or the testis, not neoplasms located in the ovaries or testes. Gonadal tissues include germ cells, cells from the sex cord, and gonadal stromal cells." "" + "habitual spontaneous abortion" "Three or more consecutive spontaneous abortions." "" + "obsolete haemophilus influenzae meningitis" "" "true" + "obsolete hairy cell leukemia" "" "true" + "hairy tongue" "A benign condition affecting the dorsum of the tongue. It is characterized by defective desquamation resulting in elongation of the filiform papillae. The dorsum of the tongue has a furry appearance and is usually stained black." "" + "halo nevus" "A benign melanocytic nevus with a halo appearance." "" + "heartwater disease" "A tick-borne septicemic disease of domestic and wild ruminants caused by ehrlichia ruminantium." "" + "Helicobacter pylori infectious disease" "Infections with organisms of the genus HELICOBACTER, particularly, in humans, HELICOBACTER PYLORI. The clinical manifestations are focused in the stomach, usually the gastric mucosa and antrum, and the upper duodenum. This infection plays a major role in the pathogenesis of type B gastritis and peptic ulcer disease." "" + "hemometra" "Blood-filled uterus." "" + "hemopneumothorax" "Collection of air and blood in the pleural cavity." "" + "hemorrhagic disease of newborn" "A condition characterized as a coagulation disturbance in newborns due to vitamin K deficiency resulting in impaired production of coagulation factors II, VII, IX, and X, and proteins C and S by the liver." "" + "Henoch-Schoenlein purpura" "A systemic, usually self-limited immune complex vasculitis, characterized by immunoglobulin A deposition in the small vessels and kidneys. It is manifested with small hemorrhages in the skin, gastrointestinal symptoms, arthritis, and nephropathy." "True" + "hepatic vein thrombosis" "A condition in which the hepatic venous outflow is obstructed anywhere from the small hepatic veins to the junction of the inferior vena cava and the right atrium. Usually the blockage is extrahepatic and caused by blood clots (thrombus) or fibrous webs. Parenchymal fibrosis is uncommon." "" + "hidrocystoma" "A benign cystic proliferation of the sweat glands with apocrine or eccrine differentiation. It usually presents as a dome-shaped, cystic papular or nodular lesion usually in the face and neck. It is a unilocular or mutlilocular lesion lined by an inner and an outer layer of epithelium. Complete excision is usually curative." "" + "hydrophthalmos" "Abnormal enlargement of the eye" "" + "hyperamylasemia" "Abnormally high level of amylase in the blood." "" + "hypercementosis" "A regressive change of teeth characterized by excessive development of secondary cementum on the tooth surface. It may occur on any part of the root, but the apical two-thirds are most commonly affected. (Dorland, 27th ed)" "" + "hyperemesis gravidarum" "Severe, intractable vomiting during pregnancy (usually the first trimester) accompanied by dehydration, weight loss, and electrolyte imbalances." "" + "hyperglobulinemic purpura" "Purplish or brownish red discoloration of the skin associated with increase in circulating polyclonal globulins, usually gamma-globulins. This syndrome often occurs on the legs of women aged 20 to 40 years." "" + "anterior pituitary gland disorder" "A disease that involves the adenohypophysis." "" + "hypersplenism" "Overactive functioning of the spleen, resulting in excessive destruction of blood cells." "" + "hypertensive encephalopathy" "Encephalopathy resulting from hypertension." "" + "intracranial hypertension" "A finding characterized by increased cerebrospinal fluid pressure within the skull." "" + "hypertensive retinopathy" "Retinopathy due to hypertension." "" + "hypervitaminosis A" "A symptom complex resulting from ingesting excessive amounts of vitamin A." "" + "hypothalamic neoplasm" "A primary or metastatic neoplasm that affects the hypothalamus." "" + "ideomotor apraxia" "A form of apraxia characterized by an acquired inability to carry out a complex motor activity despite the ability to mentally formulate the action. This condition has been attributed to a disruption of connections between the dominant parietal cortex and supplementary and premotor cortical regions in both hemispheres. (From Adams et al., Principles of Neurology, 6th ed, p57)" "" + "inappropriate ADH syndrome" "A syndrome characterized by abnormal secretion of antidiuretic hormone in conjunction with neoplastic growth occurring anywhere in the body." "" + "ectopic hormone secretion syndrome associated with neoplasia" "Abnormal secretion of hormones in conjunction with neoplastic growth occurring anywhere in the body." "" + "inferior myocardial infarction" "Myocardial infarction in which the inferior wall of the heart is involved. It is often caused by occlusion of the right coronary artery." "" + "inflammatory breast carcinoma" "An advanced, invasive breast adenocarcinoma characterized by the presence of distinct changes in the overlying skin. These changes include diffuse erythema, edema, peau d'orange (skin of an orange) appearance, tenderness, induration, warmth, enlargement, and in some cases a palpable mass. The skin changes are the consequence of lymphatic obstruction from the underlying invasive breast adenocarcinoma. Microscopically, the dermal lymphatics show prominent infiltration by malignant cells. The invasive breast adenocarcinoma is usually of ductal, NOS type. There is not significant inflammatory cell infiltrate present, despite the name of this carcinoma." "" + "intermediate coronary syndrome" "Angina pectoris (or equivalent type of ischemic discomfort) which has recently changed in frequency, duration, intensity, or occurs at rest." "" + "intermediate uveitis" "Inflammation of the pars plana." "" + "intracranial embolism" "Blocking of a blood vessel in the skull by an embolus which can be a blood clot (thrombus) or other undissolved material in the blood stream. Most emboli are of cardiac origin and are associated with heart diseases. Other non-cardiac sources of emboli are usually associated with vascular diseases." "" + "intracranial hypotension" "Reduction of cerebrospinal fluid pressure characterized clinically by headache which is maximal in an upright posture and occasionally by an abducens nerve palsy (see abducens nerve diseases), neck stiffness, hearing loss (see deafness); nausea; and other symptoms. This condition may be spontaneous or secondary to spinal puncture; neurosurgical procedures; dehydration; uremia; trauma (see also craniocerebral trauma); and other processes. Chronic hypotension may be associated with subdural hematomas (see hematoma, subdural) or hygromas. (From Semin Neurol 1996 Mar;16(1):5-10; Adams et al., Principles of Neurology, 6th ed, pp637-8)" "" + "intracranial vasospasm" "Constriction of arteries in the skull due to sudden, sharp, and often persistent smooth muscle contraction in blood vessels. Intracranial vasospasm results in reduced vessel lumen caliber, restricted blood flow to the brain, and brain ischemia that may lead to hypoxic-ischemic brain injury (hypoxia-ischemia, brain)." "" + "intradermal nevus" "A nevus characterized by the proliferation of nevus cells in the dermis without involvement of the dermal-epidermal junction." "" + "obsolete keratoconjunctivitis sicca" "" "true" + "obsolete kernicterus" "" "true" + "kidney cortex necrosis" "Death of cells in the kidney cortex, a common final result of various renal injuries including hypoxia; ischemia; and drug toxicity." "" + "kidney papillary necrosis" "A complication of kidney diseases characterized by cell death involving kidney papilla in the kidney medulla. Damages to this area may hinder the kidney to concentrate urine resulting in polyuria. Sloughed off necrotic tissue may block kidney pelvis or ureter. Necrosis of multiple renal papillae can lead to kidney failure." "" + "obsolete Klatskin's tumor" "" "true" + "Klinefelter syndrome" "A sex chromosome disorder caused by the presence of an extra X chromosome in the male karyotype. Affected individuals are infertile and have a small penis and testes. They tend to have tall stature and long legs and may have difficulties with speech and language development. Gynecomastia may be present." "" + "X chromosome number anomaly" "True" + "male infertility due to gonadal dysgenesis" "True" + "chromosome X disorder" "Chromosomal disorder in which chromosome X is affected." "" + "trisomy" "A chromosomal abnormality consisting of the presence of one chromosome in addition to the normal diploid number." "" + "Krebs 2 carcinoma" "Carcinoma having known association to krebs2 gene mutation" "" + "kuru" "A prion disease found exclusively among the Fore linguistic group natives of the highlands of new guinea. The illness is primarily restricted to adult females and children of both sexes. It is marked by the subacute onset of tremor and ataxia followed by motor weakness and incontinence. Death occurs within 3-6 months of disease onset. The condition is associated with ritual cannibalism, and has become rare since this practice has been discontinued. Pathologic features include a noninflammatory loss of neurons that is most prominent in the cerebellum, glial proliferation, and amyloid plaques. (From Adams et al., Principles of Neurology, 6th ed, p773)" "" + "miscellaneous movement disorder due to neurodegenerative disease" "True" + "human prion disease" "Prion diseases are a group of rare transmissible disorders characterized by progressive debilitating neurological manifestations due to spongiform changes with an invariably fatal course. The disorders all involve accumulation of an abnormal prion protein in the central nervous system with no specific immunological response. Sporadic Creutzfeldt-Jakob disease (CJD) is the most frequent form accounting for about 85% of prion disease cases. The other forms of prion disease are genetic (5-15%) and include inherited CJD, fatal familial insomnia (FFI), and Familial Alzheimer-like prion disease. Acquired forms (< 5%) include iatrogenic CJD and variant CJD (vCDJ)." "" + "kwashiorkor" "A syndrome produced by severe protein deficiency, characterized by retarded growth, changes in skin and hair pigment, edema, and pathologic changes in the liver, including fatty infiltration, necrosis, and fibrosis. The word is a local name in Gold Coast, Africa, meaning 'displaced child'. Although first reported from Africa, kwashiorkor is now known throughout the world, but mainly in the tropics and subtropics. It is considered to be related to marasmus. (From Dorland, 27th ed)" "" + "lateral medullary syndrome" "A syndrome caused by an infarct in the vertebral or posterior inferior cerebellar artery. It is characterized by sensory defects affecting the same side of the face as the infarct and the opposite side of the trunk as the infarct. Patients experience difficulty swallowing and/or speaking." "" + "nasal cavity and paranasal sinus lethal midline granuloma" "An aggressive, progressive, and destructive lesion affecting the nasal cavities, paranasal sinuses, and the palate. The vast majority of cases are malignant lymphoproliferations affecting the midline of the face in patients with nasal type extranodal NK/T-cell lymphoma." "" + "leukemoid reaction" "A hematology test result that indicates the presence of an increased white blood cell count and increased neutrophil precursors resembling leukemia, in a peripheral blood smear." "" + "leukoplakia of penis" "A precancerous condition characterized by the presence of abnormal whitish areas on the glans or prepuce of the penis. Risk factors include chronic irritation, inflammation, and infection of the penis, and poor genital hygiene." "" + "leukostasis" "A disorder involving the aberrant infiltration and aggregation of leukocytes into the vasculature of the body. Leukostasis is typically detected in the brain and lungs of persons with leukemia. It requires substantial ablative modalities to both reduce the number of cells present and to ensure dispersion of the aggregates." "" + "limited scleroderma" "The least progressive form of systemic scleroderma with skin thickening restricted to the face, neck and areas distal to the elbows and/or knees, sparing the trunk. The crest syndrome is a form of limited scleroderma." "" + "lingual goiter" "Pathological enlargement of the lingual thyroid, ectopic thyroid tissue at the base of the tongue. It may cause upper airway obstruction; dysphagia; or hypothyroidism symptoms." "" + "lip neoplasm" "A neoplasm (disease) that involves the lip." "" + "lipoid nephrosis" "A glomerular disorder characterized by the electron microscopic finding of loss of podocyte foot processes. Light microscopic examination does not show glomerular changes. Patients present with proteinuria and nephrotic syndrome." "" + "Listeria meningitis" "Inflammation of the meninges caused by listeria monocytogenes infection, usually occurring in individuals under the age of 3 years or over the age of 50 years. It may occur at any age in individuals with immunologic deficiency syndromes. Clinical manifestations include fever, altered mentation, headache, meningeal signs, focal neurologic signs, and seizures. (From Medicine 1998 Sep;77(5):313-36)" "" + "low tension glaucoma" "A form of glaucoma in which chronic optic nerve damage and loss of vision normally attributable to buildup of intraocular pressure occurs despite prevailing conditions of normal intraocular pressure." "" + "lupus vulgaris" "A form of cutaneous tuberculosis. It is seen predominantly in women and typically involves the nasal mucosa; buccal mucosa; and conjunctival mucosa." "" + "Lutembacher syndrome" "A condition characterized by a combination of ostium secundum atrial septal defect and an acquired mitral valve stenosis." "" + "lymphangiectasis" "Dilatation of the lymphatic vessels." "" + "lymphangioendothelioma" "A lymphangioma characterized by the presence of collagen bundle formation. It has an indolent clinical course and may be associated with skin plaques." "" + "lymphangiomyoma" "A neoplasm with perivascular epithelioid cell differentiation, often associated with tuberous sclerosis. It is characterized by the presence of smooth muscle and epithelioid cells and by the proliferation of lymphatic vessels. Sites of involvement include the lymph nodes, lung, mediastinum, and retroperitoneum." "" + "macular holes" "A hole in the macula of the retina." "" + "magnesium deficiency" "A nutritional condition produced by a deficiency of magnesium in the diet, characterized by anorexia, nausea, vomiting, lethargy, and weakness. Symptoms are paresthesias, muscle cramps, irritability, decreased attention span, and mental confusion, possibly requiring months to appear. Deficiency of body magnesium can exist even when serum values are normal. In addition, magnesium deficiency may be organ-selective, since certain tissues become deficient before others. (Harrison's Principles of Internal Medicine, 12th ed, p1936)" "" + "malignant lymphatic vessel tumor" "Neoplasms composed of lymphoid tissue, a lattice work of reticular tissue the interspaces of which contain lymphocytes. The concept does not refer to neoplasms located in lymphatic vessels." "" + "marasmus" "The lack of sufficient energy or protein to meet the body's metabolic demands, as a result of either an inadequate dietary intake of protein, intake of poor quality dietary protein, increased demands due to disease, or increased nutrient losses." "" + "meconium aspiration syndrome" "A serious condition in which a newborn breathes a mixture of meconium (the first intestinal discharge) and amniotic fluid into the lungs around the time of delivery. Meconium aspiration syndrome occurs in 5-10 percent of births and typically occurs when the infant is stressed, as when the infant is past its due date." "" + "neonatal aspiration syndrome" "Aspiration of meconium, blood, amniotic fluid or gastric contents around the time of delivery resulting in clinical symptoms from airway obstruction, parenchymal injury, and ventilation-perfusion mismatch. This may lead to persistent pulmonary hypertension in the newborn." "" + "obsolete meningococcal meningitis" "" "true" + "mesenteric vascular occlusion" "Obstruction of the flow in the splanchnic circulation by atherosclerosis; embolism; thrombosis; stenosis; trauma; and compression or intrinsic pressure from adjacent tumors. Rare causes are drugs, intestinal parasites, and vascular immunoinflammatory diseases such as periarteritis nodosa and thromboangiitis obliterans. (From Juergens et al., Peripheral Vascular Diseases, 5th ed, pp295-6)" "" + "middle cerebral artery infarction" "Necrosis occurring in the middle cerebral artery distribution system which brings blood to the entire lateral aspects of each cerebral hemisphere. Clinical signs include impaired cognition; aphasia; agraphia; weak and numbness in the face and arms, contralaterally or bilaterally depending on the infarction." "" + "obsolete mucoepidermoid tumor" "" "true" + "myofascial pain syndrome" "Muscular pain in numerous body regions that can be reproduced by pressure on trigger points, localized hardenings in skeletal muscle tissue. Pain is referred to a location distant from the trigger points. A prime example is the temporomandibular joint dysfunction syndrome." "" + "myxosarcoma" "An infiltrating malignant soft tissue neoplasm characterized by the presence of immature undifferentiated cells and abundant myxoid stroma formation." "" + "necrotizing sialometaplasia" "A benign, inflammatory, variably ulcerated, occasionally bilateral, self-healing lesion of the minor salivary glands that is often confused clinically and histologically with carcinoma." "" + "necrotizing ulcerative gingivitis" "A bacterial infectious process affecting the gums. It is characterized by the development of necrotic, ulcerated, and painful lesions with creation of pseudomembranes extending along the gingival margins." "" + "neonatal myasthenia gravis" "A disorder of neuromuscular transmission that occurs in a minority of newborns born to women with myasthenia gravis. Clinical features are usually present at birth or develop in the first 3 days of life and consist of hypotonia and impaired respiratory, suck, and swallowing abilities. This condition is associated with the passive transfer of acetylcholine receptor antibodies through the placenta. In the majority of infants the myasthenic weakness resolves (i.e., transient neonatal myasthenia gravis) although this disorder may rarely continue beyond the neonatal period (i.e., persistent neonatal myasthenia gravis). (From Menkes, Textbook of Child Neurology, 5th ed, p823; Neurology 1997 Jan;48(1):50-4)" "" + "myasthenia gravis" "Myasthenia gravis (MG) is a rare, clinically heterogeneous, autoimmune disorder of the neuromuscular junction characterized by fatigable weakness of voluntary muscles." "" + "obsolete neovascular glaucoma" "" "true" + "neurogenic bowel" "Loss or absence of normal intestinal function due to nerve damage or birth defects. It is characterized by the inability to control the elimination of stool from the body." "" + "obsolete noma" "" "true" + "non-gestational choriocarcinoma" "A highly malignant choriocarcinoma derived from the non-placental origin such as the totipotent cells in the testis, the ovary, and the pineal gland. It produces high levels of chorionic gonadotropin and can metastasize widely through the bloodstream to the lungs, brain, liver, bone, and other viscera by the time of diagnosis." "" + "obsolete nut allergic reaction" "Allergic reaction to tree nuts that is triggered by the immune system." "" "true" + "obstructive jaundice" "A finding indicating increased bilirubin levels in the blood and urine, due to intrahepatic or extrahepatic obstruction of the biliary system." "" + "ocular hypertension" "Abnormally high intraocular pressure." "" + "ocular tuberculosis" "Tuberculous infection of the eye, primarily the iris, ciliary body, and choroid." "" + "oral leukoedema" "A disorder of the buccal mucosa resembling early leukoplakia, characterized by the presence of filmy opalescence of the mucosa in the early stages to a whitish gray cast with a coarsely wrinkled surface in the later stages, associated with intracellular edema of the spinous or malpighian layer. (Dorland, 27th ed)" "" + "orbital cellulitis" "Inflammation of the eye tissues posterior to the orbital septum, and generally secondary to an infection spread from adjacent sinuses. Signs and symptoms of the affected eye include sudden loss of vision, erythema, edema, decreased eye movement, and pain. Treatment is conducted via intravenous antibiotics, observation, and surgical intervention when necessary." "" + "pulmonary sulcus neoplasm" "A neoplasm originating from the apical lung. Most superior sulcus neoplasms are bronchogenic carcinomas. This tumor may be associated with Pancoast syndrome. It is also known as Pancoast tumor." "" + "panophthalmitis" "Acute suppurative inflammation of the inner eye with necrosis of the sclera (and sometimes the cornea) and extension of the inflammation into the orbit. Pain may be severe and the globe may rupture. In endophthalmitis the globe does not rupture." "" + "" "true" + "panuveitis" "A disorder characterized by inflammation of the entire uvea which includes the iris, ciliary body, and choroid. Causes include systemic infections, sarcoidosis, and cancers." "" + "thyroid gland papillary and follicular carcinoma" "A thyroid neoplasm of mixed papillary and follicular arrangement. Its biological behavior and prognosis is the same as that of a papillary adenocarcinoma of the thyroid. (From DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1271)" "" + "parametritis" "Inflammation of the parametrium, the connective tissue of the pelvic floor, extending from the subserous coat of the uterus laterally between the layers of the broad ligament." "" + "paraneoplastic polyneuropathy" "A diffuse or multifocal peripheral neuropathy caused by the effects of a distant neoplasm. It may be attributed, in part, to the immune response to neoplasm-elaborated proteins. The neuropathy may be sensory, motor, mixed or autonomic. It may be the initial presentation of an occult neoplasm. Detection and resection of the neoplasm may result in cure." "" + "paraneoplastic syndrome" "A classification for rare disorders of diverse organ systems (endocrine, neuromuscular, gastrointestinal, renal, dermatologic, rheumatologic, hematologic) that are affected by substances secreted by a distant neoplasm but not by the action of the neoplasm itself metastasizing to that organ or tissue. Less than 1 % of neoplasms are associated with these syndromes. An immune-mediated response to neoplasm-elaborated proteins may be the cause of these syndromes. Additionally, their manifestation may signal the presence of an occult neoplasm, potentially at an earlier stage of disease thereby leading to a better clinical outcome. Constitutional signs may include fever, night sweats, anorexia and cachexia. Clinical course is usually progressive. Prognosis is variable depending on the effective treatment of the underlying neoplasm." "" + "paraneoplastic neurologic syndrome" "A paraneoplastic syndrome that involves the nervous system." "" + "paraphimosis" "A condition in which the foreskin of an uncircumcised male is retracted and cannot be pulled back over the glans penis. It results in painful swelling of the glans penis and, if is not corrected, may lead to gangrene." "" + "phimosis" "A condition in which there is constriction in the tip of the foreskin resulting in inability to fully retract the foreskin over the glans penis. Causes include balanoposthitis, balanitis xerotica obliterans, and untreated diabetes." "" + "benign neoplasm of parathyroid gland" "A benign neoplasm that involves the parathyroid gland." "" + "partial motor epilepsy" "A simple partial seizure consisting of clonus or spasm of a muscle or muscle group; it may be single or in a continuous and repetitive series or may spread to adjacent muscles." "" + "partial sensory epilepsy" "A disorder characterized by recurrent focal onset seizures which have sensory (i.e., olfactory, visual, tactile, gustatory, or auditory) manifestations. Partial seizures that feature alterations of consciousness are referred to as complex partial seizures (epilepsy, complex partial)." "" + "Pasteurella hemorrhagic septicemia" "Any of several bacterial diseases, usually caused by pasteurella multocida, marked by the presence of hemorrhagic areas in the subcutaneous tissues, serous membranes, muscles, lymph glands, and throughout the internal organs. The diseases primarily affect animals and rarely humans." "" + "Pasteurella multocida infectious disease" "" + "patellofemoral pain syndrome" "A syndrome characterized by retropatellar or peripatellar pain resulting from physical and biochemical changes in the patellofemoral joint. The pain is most prominent when ascending or descending stairs, squatting, or sitting with flexed knees. There is a lack of consensus on the etiology and treatment. The syndrome is often confused with (or accompanied by) chondromalacia patellae, the latter describing a pathological condition of the cartilage and not a syndrome." "" + "peptic esophagitis" "Inflammation of the esophagus that is caused by the reflux of gastric juice with contents of the stomach and duodenum." "" + "esophageal ulcer" "An ulcerated lesion in the esophageal wall." "" + "periapical granuloma" "Chronic nonsuppurative inflammation of periapical tissue resulting from irritation following pulp disease or endodontic treatment." "" + "periarthritis" "Inflammation of the tissues around a joint. (Dorland, 27th ed)" "" + "pericoronitis" "Inflammation of the gingiva surrounding the crown of a tooth." "" + "perinephritis" "Inflammation of the connective and adipose tissues surrounding the kidney." "" + "obsolete periventricular leukomalacia" "" "true" + "peroneal nerve paralysis" "Paralysis of the nerves located in the legs." "" + "pigmented spindle cell nevus" "A benign, small and slightly elevated brown or black skin lesion with usually well-demarcated borders. It is characterized by the presence of a melanocytic proliferation resulting in the formation of uniform cellular nests. Sometimes the clinical and morphologic features may be difficult to distinguish from melanoma." "" + "pilar sheath acanthoma" "A benign, small, papular or nodular skin neoplasm that usually arises above the upper lip. It is characterized by an epithelial proliferation with a central cavity. The cavity wall is lined with keratinocytes." "" + "pituitary apoplexy" "A rare, potentially life-threatening disorder caused by acute ischemic infarction or hemorrhage in the pituitary gland. It is most often associated with the presence of a pituitary gland adenoma. Signs and symptoms include headache, vomiting, visual disturbances, and endocrine dysfunction." "" + "acquired pituitary hormone deficiency" "An instance of hypopituitarism that is acquired during the lifetime of the individual." "" + "pituitary dwarfism" "Proportionately decreased bodily growth due to failure of the pituitary gland to produce an adequate supply of growth hormone." "" + "obsolete pituitary-dependent Cushing disease" "" "true" + "obsolete placental site trophoblastic tumor" "" "true" + "pneumatosis cystoides intestinalis" "The presence of gas within the wall of the large or small intestine." "" + "pneumococcal meningitis" "An acute purulent infection of the meninges and subarachnoid space caused by Streptococcus pneumoniae, most prevalent in children and adults over the age of 60. This illness may be associated with otitis media; mastoiditis; sinusitis; respiratory tract infections; sickle cell disease (anemia, sickle cell); skull fractures; and other disorders. Clinical manifestations include fever; headache; neck stiffness; and somnolence followed by seizures; focal neurologic deficits (notably deafness); and coma. (From Miller et al., Merritt's Textbook of Neurology, 9th ed, p111)" "" + "obsolete POEMS syndrome" "" "true" + "postcholecystectomy syndrome" "Abdominal symptoms after removal of the gallbladder. The common postoperative symptoms are often the same as those present before the operation, such as colic, bloating, nausea, and vomiting. There is pain on palpation of the right upper quadrant and sometimes jaundice. The term is often used, inaccurately, to describe such postoperative symptoms not due to gallbladder removal." "" + "posterior cerebral artery infarction" "Necrosis induced by ischemia in the posterior cerebral artery distribution system which supplies portions of the brain stem; the thalamus; temporal lobe, and occipital lobe. Depending on the size and location of infarction, clinical features include olfaction disorders and visual problems (agnosia; alexia; hemianopsia)." "" + "potassium deficiency" "A condition due to decreased dietary intake of potassium, as in starvation or failure to administer in intravenous solutions, or to gastrointestinal loss in diarrhea, chronic laxative abuse, vomiting, gastric suction, or bowel diversion. Severe potassium deficiency may produce muscular weakness and lead to paralysis and respiratory failure. Muscular malfunction may result in hypoventilation, paralytic ileus, hypotension, muscle twitches, tetany, and rhabomyolysis. Nephropathy from potassium deficit impairs the concentrating mechanism, producing polyuria and decreased maximal urinary concentrating ability with secondary polydipsia. (Merck Manual, 16th ed)" "" + "prediabetes syndrome" "A condition in which blood glucose levels are high, but not high enough to be classified as type 2 diabetes." "" + "Anaplasmataceae infectious disease" "Infections with bacteria of the family anaplasmataceae." "" + "proliferative vitreoretinopathy" "Vitreoretinal membrane shrinkage or contraction secondary to the proliferation of primarily retinal pigment epithelial cells and glial cells, particularly fibrous astrocytes, followed by membrane formation. The formation of fibrillar collagen and cellular proliferation appear to be the basis for the contractile properties of the epiretinal and vitreous membranes." "" + "vitreoretinal degeneration" "" + "CAPN5-related vitreoretinopathy" "An autosomal dominant vitreoretinopathy caused by variants in the CAPN5 gene. Additional features, such as developmental delay and hypotonia, have been reported in some patients." "" + "Proteus infectious disease" "Infections with bacteria of the genus proteus." "" + "pseudobulbar palsy" "A condition affecting cranial nerves IX-XII resulting from upper motor neuron damage arising from a variety of causes." "" + "pulmonary coin lesion" "A single lung lesion that is characterized by a small round mass of tissue, usually less than 1 cm in diameter, and can be detected by chest radiography. A solitary pulmonary nodule can be associated with neoplasm, tuberculosis, cyst, or other anomalies in the lung, the chest wall, or the pleura." "" + "pulmonary edema" "Accumulation of fluid in the lung tissues causing disturbance of the gas exchange that may lead to respiratory failure. It is caused by direct injury to the lung parenchyma or congestive heart failure. The symptoms may appear suddenly or gradually. Suddenly appearing symptoms include difficulty breathing, feeling of suffocation, and coughing associated with frothy sputum. Gradually appearing symptoms include difficulty breathing while lying in bed, shortness of breath during activity, and weight gain (in patients with congestive heart failure)." "" + "pulmonary plasma cell granuloma" "A tumor-like inflammatory lesion of the lung that is composed of plasma cells and fibrous tissue. It is also known as an inflammatory pseudotumor, often with calcification and measuring between 2 and 5 cm in diameter." "" + "" "true" + "pulmonary subvalvular stenosis" "The obstruction of the right ventricular outflow tract that originates within the body of the right ventricle, that exists at the time of birth; it often occurs in association with other intracardiac anomalies." "" + "pulmonary valve stenosis" "The pathologic narrowing of the orifice of the pulmonary valve. This lesion restricts blood outflow from the right ventricle to the pulmonary artery. When the trileaflet valve is fused into an imperforate membrane, the blockage is complete." "" + "pulpitis" "Inflammation of the dental pulp." "" + "radial nerve lesion" "A peripheral nerve lesion that involves the radial nerve." "" + "rat-bite fever" "An infectious disease that is caused transmitted by the bite of a rat. Two species of bacteria can cause the infection: Streptobacillus moniliformis and Spirillum minus." "" + "obsolete reflex epilepsy" "" "true" + "obsolete relapsing polychondritis" "" "true" + "renal aminoaciduria" "A group of inherited kidney disorders characterized by the abnormally elevated levels of amino acids in urine. Genetic mutations of transport proteins result in the defective reabsorption of free amino acids at the proximal renal tubules. Renal aminoaciduria are classified by the specific amino acid or acids involved." "" + "renal artery obstruction" "Narrowing or occlusion of the renal artery or arteries. It is due usually to atherosclerosis; fibromuscular dysplasia; thrombosis; embolism, or external pressure. The reduced renal perfusion can lead to renovascular hypertension (hypertension, renovascular)." "" + "renal osteodystrophy" "Abnormalities of bone mineral metabolism associated with chronic kidney disease." "" + "renovascular hypertension" "High blood pressure secondary to renal artery stenosis." "" + "retinal drusen" "Colloid or hyaline bodies lying beneath the retinal pigment epithelium. They may occur either secondary to changes in the choroid that affect the pigment epithelium or as an autosomal dominant disorder of the retinal pigment epithelium." "" + "retinal vasculitis" "Inflammation of the retinal vasculature with various causes including infectious disease; lupus erythematosus, systemic; multiple sclerosis; behcet syndrome; and chorioretinitis." "" + "retinopathy of prematurity" "A bilateral retinopathy characterized by neovascularization, scarring, retinal detachment, and eventually blindness. It may be mild or severe. It occurs in babies born prematurely. Causes include oxygen toxicity and hypoxia." "" + "Rh isoimmunization" "The mother develops antibodies against red blood cell Rhesus antigens. This may lead to potential fetal adverse outcomes such as anemia." "" + "obsolete rheumatic fever" "" "true" + "root caries" "Dental caries involving the tooth root, cementum, or cervical area of the tooth." "" + "obsolete SAPHO syndrome" "" "true" + "obsolete Schnitzler syndrome" "" "true" + "scrapie" "A fatal disease of the nervous system in sheep and goats, characterized by pruritus, debility, and locomotor incoordination. It is caused by proteinaceous infectious particles called prions." "" + "sebaceous gland cancer" "A cancer that involves the sebaceous gland." "" + "secondary hypertrophic osteoarthropathy" "Symmetrical osteitis of the four limbs, chiefly localized to the phalanges and the terminal epiphyses of the long bones of the forearm and leg, sometimes extending to the proximal ends of the limbs and the flat bones, and accompanied by dorsal kyphosis and joint involvement. It is often secondary to chronic conditions of the lungs and heart. (Dorland, 27th ed)" "" + "obsolete septic abortion" "" "true" + "shoulder impingement syndrome" "Compression of the rotator cuff tendons and subacromial bursa between the humeral head and structures that make up the coracoacromial arch and the humeral tuberosities. This condition is associated with subacromial bursitis and rotator cuff (largely supraspinatus) and bicipital tendon inflammation, with or without degenerative changes in the tendon. Pain that is most severe when the arm is abducted in an arc between 40 and 120 degrees, sometimes associated with tears in the rotator cuff, is the chief symptom. (From Jablonski's Dictionary of Syndromes and Eponymic Diseases, 2d ed)" "" + "sialolithiasis" "A concretion in the salivary gland." "" + "silo filler disease" "A form of alveolitis or pneumonitis caused by hypersensitivity to high level of inhaled nitrogen oxides, decomposition products of silage." "" + "somatostatinoma" "A rare, usually malignant neuroendocrine tumor arizing from delta cells. This neoplasm produces large amounts of somatostatin, which may result in a syndrome characterized by diarrhea, steatorrhea, weight loss, and gastric hyposecretion. Sixty percent are found in the pancreas and 40% in the duodenum or jejunum. The peak incidence occurs between 40 and 60 years of age; women are affected more than men by 2:1." "" + "spermatocele" "A benign testicular cyst that is located in the epididymis, and which contains serous fluid, lymphocytes, spermatozoa, and debris." "" + "splenic infarction" "Insufficiency of arterial or venous blood supply to the spleen due to emboli, thrombi, vascular torsion, or pressure that produces a macroscopic area of necrosis. (From Stedman, 25th ed)" "" + "steatitis" "A disease of cats and mink characterized by a marked inflammation of adipose tissue and the deposition of 'ceroid' pigment in the interstices of the adipose cells. It is believed to be caused by feeding diets containing too much unsaturated fatty acid and too little vitamin E. (Merck Veterinary Manual, 5th ed; Stedman, 25th ed)" "" + "subacute bacterial endocarditis" "Subacute inflammation of the endocardium. Streptococcus viridans is the usual etiologic agent of subacute bacterial endocarditis. The distinction between \"acute\" and \"subacute\" endocarditis has traditionally been made based on the pathogenic organism and clinical presentation." "" + "subacute thyroiditis" "Self-limited inflammation of the thyroid gland characterized by the presence of multinucleated giant cells. Patients present with neck pain, often associated with fever and dysphagia. The clinical course includes an initial phase of hyperthyroidism, followed by a phase of hypothyroidism, and eventually a return to normal thyroid function." "" + "subclavian steal syndrome" "An uncommon neurovascular condition seen with exertion of the upper extremity. It is usually caused by atherosclerotic stenosis or occlusion of the subclavian artery proximal to the origin of the vertebral artery. In order to maintain adequate perfusion of the arm during exercise on the affected side, the narrowed subclavian artery siphons off retrograde blood flow from the ipsilateral vertebral artery. This is possible due to lower blood pressure distal to the site of narrowing and collateral circulation through the circle of Willis. Affected individuals may remain asymptomatic until the oxygen demand generated from upper extremity exercise requires a large enough compensatory volume of blood to be diverted from the vertebral artery to provoke vertebrobasilar insufficiency and its accompanying neurological sequelae. Presenting clinical signs may include pain or numbness of the affected arm (with diminished pulses and a brachial systolic blood pressure differential of greater than 20 mmHg as compared to the opposite arm), vertigo, tinnitus, dysarthria, diplopia and syncope. Notably, unlike cerebral infarction, the clinical course does not lead to chronic neurologic disability. Prognosis for recovery of normal anterograde circulation is favorable following endovascular or surgical intervention." "" + "subdural empyema" "An intracranial or rarely intraspinal suppurative process invading the space between the inner surface of the dura mater and the outer surface of the arachnoid." "" + "obsolete subependymoma" "" "true" + "substernal goiter" "An enlarged thyroid gland with at least 50% of the gland situated behind the sternum. It is an unusual presentation of an intrathoracic goiter. Substernal goiters frequently cause compression on the trachea leading to deviation, narrowing, and respiratory symptoms." "" + "sulfhemoglobinemia" "A morbid condition due to the presence of sulfmethemoglobin in the blood. It is marked by persistent cyanosis, but the blood count does not reveal any special abnormality in the blood. It is thought to be caused by the action of hydrogen sulfide absorbed from the intestine. (Stedman, 25th ed)" "" + "suppurative periapical periodontitis" "Localized collection of pus in the tissues that enclose the root of a tooth." "" + "suppurative uveitis" "Intraocular infection caused mainly by pus-producing bacteria and rarely by fungi. The infection may be caused by an injury or surgical wound (exogenous) or by endogenous septic emboli in such diseases as bacterial endocarditis or meningococcemia." "" + "obsolete sympathetic ophthalmia" "" "true" + "syphilitic aortitis" "Cardiovascular manifestations of syphilis, an infection of treponema pallidum. In the late stage of syphilis, sometimes 20-30 years after the initial infection, damages are often seen in the blood vessels including the aorta and the aortic valve. Clinical signs include syphilitic aortitis, aortic insufficiency, or aortic aneurysm." "" + "systolic heart failure" "Heart failure caused by abnormal myocardial contraction during systole leading to defective cardiac emptying." "" + "tarsal tunnel syndrome" "Tarsal tunnel syndrome is a nerve disorder that is characterized by pain in the ankle, foot, and toes. This condition is caused by compression of the posterior tibial nerve, which runs through a canal near the heel into the sole of the foot. When tissues around this nerve become inflamed, they can press on the nerve and cause the pain associated with tarsal tunnel syndrome." "" + "tibial neuropathy" "Disease of the tibial nerve (also referred to as the posterior tibial nerve). The most commonly associated condition is the tarsal tunnel syndrome. However, leg injuries; ischemia; and inflammatory conditions (e.g., collagen diseases) may also affect the nerve. Clinical features include paralysis of plantar flexion, ankle inversion and toe flexion as well as loss of sensation over the sole of the foot. (From Joynt, Clinical Neurology, 1995, Ch51, p32)" "" + "tethered spinal cord syndrome" "A progressive neurological disorder characterized by the limitation of movement of the spinal cord within the spine. It is caused by the presence of congenital or acquired tissue attachments in the spinal cord. Signs and symptoms include low back pain, scoliosis, weakness in the legs, and incontinence." "" + "thyroid crisis" "Acute onset of severe, life-threatening hyperthyroidism caused by a sudden release of excessive thyroid hormone." "" + "tonsil neoplasm" "A neoplasm (disease) that involves the tonsil." "" + "tricuspid valve prolapse" "Abnormal protrusion of one or more of the leaflets of tricuspid valve into the right atrium during systole. This allows the backflow of blood into right atrium leading to tricuspid valve insufficiency; systolic murmurs. Its most common cause is not primary valve abnormality but rather the dilation of the right ventricle and the tricuspid annulus." "" + "congenital tricuspid malformation" "" + "obsolete twin-to-twin transfusion syndrome" "" "true" + "ulcerative proctosigmoiditis" "Inflammation of the rectum and the distal portion of the colon." "" + "Ureaplasma urethritis" "Infections with bacteria of the genus ureaplasma." "" + "ureterolithiasis" "The presence of a calculus in the ureter of the kidney; this is most often composed of mineral salts and proteins." "" + "obsolete uveitis" "" "true" + "uveoparotid fever" "A manifestation of sarcoidosis marked by chronic inflammation of the parotid gland and the uvea." "" + "variant Creutzfeldt-Jakob disease" "A form of Creutzfeldt-Jakob disease that is most commonly contracted after consuming meat from an animal suffering from bovine spongiform encephalopathy." "" + "acquired Creutzfeldt-Jakob disease" "An instance of Creutzfeldt Jacob disease that is acquired during the lifetime of the individual." "" + "vasculogenic impotence" "Inability to achieve and maintain an erection (erectile dysfunction) due to defects in the arterial blood flow to the penis, defect in venous occlusive function allowing blood drainage (leakage) from the erectile tissue (corpus cavernosum penis), or both." "" + "vibrio infectious disease" "Infections with bacteria of the genus vibrio." "" + "vitamin A deficiency" "Deficiency of vitamin A due to malnutrition, malabsorption, or dietary lack. It is manifested with reduced night vision, night blindness, and xerophthalmia." "" + "vitreous detachment" "Detachment of the vitreous humor from the retina." "" + "inherited vitreoretinopathy" "" + "vulvitis" "Inflammation of the vulva. It is characterized by pruritus and painful urination." "" + "Wernicke encephalopathy" "An acute neurological disorder characterized by the triad of ophthalmoplegia, ataxia, and disturbances of mental activity or consciousness. Eye movement abnormalities include nystagmus, external rectus palsies, and reduced conjugate gaze. thiamine deficiency and chronic alcoholism are associated conditions. Pathologic features include periventricular petechial hemorrhages and neuropil breakdown in the diencephalon and brainstem. Chronic thiamine deficiency may lead to korsakoff syndrome. (Adams et al., Principles of Neurology, 6th ed, pp1139-42; Davis & Robertson, Textbook of Neuropathology, 2nd ed, pp452-3)" "" + "obsolete wheat allergic disease" "Allergic reaction to wheat that is triggered by the immune system." "" "true" + "xanthogranulomatous pyelonephritis" "Chronic, destructive infection of the kidney characterized by lipid-laden macrophages in the setting of obstruction secondary to infected renal stones, most commonly caused by Proteus or Escherichia coli." "" + "Yersinia infectious disease" "Infections with bacteria of the genus yersinia." "" + "Yersinia pseudotuberculosis infectious disease" "Infections with bacteria of the species yersinia pseudotuberculosis." "" + "chancre" "The primary sore of syphilis, a painless indurated, eroded papule, occurring at the site of entry of the infection." "" + "obsolete non-alcoholic fatty liver" "" "true" + "non-alcoholic steatohepatitis" "Fatty replacement and damage to the hepatocytes not related to alcohol use. It may lead to cirrhosis and liver failure." "" + "non-alcoholic fatty liver disease" "A term referring to fatty replacement of the hepatic parenchyma which is not related to alcohol use." "" + "rotator cuff syndrome" "Tear of one or more of the tendons of the four rotator cuff muscles of the shoulder. A rotator cuff 'injury' can include any type of irritation or overuse of those muscles or tendons, and is among the most common conditions affecting the shoulder." "" + "branchio-oto-renal syndrome" "A syndrome characterized by branchial arch anomalies (branchial clefts, fistulae, cysts), hearing impairment (malformations of the auricle with pre-auricular pits, conductive or sensorineural hearing impairment), and renal malformations (urinary tree malformation, renal hypoplasia or agenesis, renal dysplasia, renal cysts)." "" + "syndromic urogenital tract malformation" "A urogenital tract malformation that is part of a larger syndrome." "" + "syndrome or malformation associated with head and neck malformations" "True" + "autosomal dominant Aarskog syndrome" "" + "faciodigitogenital syndrome" "A rare developmental disorder characterized by facial, limbs and genital features, and a disproportionate acromelic short stature. This includes X-linked, AR and AD forms of Aarskog syndrome." "" + "familial abdominal aortic aneurysm" "An instance of abdominal aortic aneurysm that is caused by an inherited modification of the individual's genome." "" + "prune belly syndrome" "Prune belly syndrome is a rare congenital disorder, belonging to the group of fetal lower urinary tract obstructions (LUTO), involving variable dilation of the lower urinary tract in association with partial or complete absence of the lateral and inferior abdominal wall musculature and in males bilateral non-palpable undescended testes." "" + "fetal lower urinary tract obstruction" "" + "abducens nerve palsy" "Paralysis of the abducens nerve." "" + "Adams-Oliver syndrome" "Adams-Oliver Syndrome (AOS) is a rare disorder characterized by the combination of congenital limb abnormalities and scalp defects, often accompanied by skull ossification defects." "" + "syndrome with limb reduction defects" "True" + "mixed dermis disorder" "" + "acanthosis nigricans" "A melanotic cutaneous lesion that develops in the axilla and other body folds. It may be idiopathic, drug-induced, or it may be associated with the presence of an endocrine disorder or malignancy." "" + "skin pigmentation disorder" "A pigmentation disease that involves the zone of skin." "" + "Achard syndrome" "A rare genetic syndrome featuring connective tissue abnormalities. Clinical signs include brachycephaly, arachnodactyly, receding mandible and joint laxity at the hands and feet." "" + "achondroplasia" "Achondroplasia is the most common form of chondrodysplasia, characterized by rhizomelia, exaggerated lumbar lordosis, brachydactyly, and macrocephaly with frontal bossing and midface hypoplasia." "" + "FGFR3-related chondrodysplasia" "" + "primary bone dysplasia with micromelia" "True" + "Achoo syndrome" "" + "neurofibromatosis type 2" "A tumor-prone disorder characterized by the development of multiple schwannomas and meningiomas." "" + "neurofibromatosis" "A hereditary neoplastic syndrome in which tumors grow in the nervous system. There are typically 3 main types recognized, but other forms with uncertain etiology exist." "" + "Sakati-Nyhan syndrome" "An acrocephalosyndactylia characterized by abnormalities in the bones of the legs, congenital heart defects and craniofacial defects and craniosynostosis. The patients suffer from cyanosis and other respiratory and breathing infections." "" + "apert syndrome" "Apert syndrome (AS) is a frequent form of acrocephalosyndactyly, a group of inherited congenital malformation disorders, characterized by craniosynostosis, midface hypoplasia, and finger and toe anomalies and/or syndactyly." "" + "Saethre-Chotzen syndrome" "Saethre-Chotzen syndrome (SCS) is an inherited craniosynostosis syndrome characterized by unilateral or bilateral coronal synostosis, facial asymmetry, ptosis, strabismus and small ears with prominent crus, among other less common manifestations." "" + "Pfeiffer syndrome" "Pfeiffer syndrome (PS) is a common form of acrocephalosyndactyly, a group of inherited congenital malformation disorders, characterized by variable degrees of bicoronal craniosynostosis, variable hand and foot malformations and various other associated manifestations." "" + "acrodysostosis 1 with or without hormone resistance" "An autosomal dominant skeletal dysplasia caused by mutation(s) in the PRKAR1A gene, encoding cAMP-dependent protein kinase type I-alpha regulatory subunit. It is characterized by short stature, brachydactyly, and characteristic facial features. Resistance to multiple hormones is a common finding." "" + "acrodysostosis with multiple hormone resistance" "" + "acrodysostosis" "Acrodysostosis (ACRDYS) is a rare primary bone dysplasia characterized by severe brachydactyly, peripheral dysostosis with facial dysostosis, nasal hypoplasia, and developmental delay." "" + "acrofacial dysostosis, Catania type" "Acrofacialdysostosis, Catania type is a very rare type of acrofacialdysostosis characterized by mild intrauterine growth retardation (IUGR), postnatal short stature, microcephaly, widow's peak, mandibulofacial dysostosis without cleft palate, frequent caries, mild pre- and postaxial limb hypoplasia with brachydactyly, mild interdigital webbing, simian creases, inguinal hernia and cryptorchidism and hypospadias in males." "" + "acrofacial dysostosis" "" + "hereditary papulotranslucent acrokeratoderma" "A keratosis of the hands and feet characterized by persistent, asymptomatic, yellowish to white papules and plaques associated with fine-textured scalp hair and an atopic diathesis." "" + "punctate palmoplantar keratoderma type III" "Acrokeratoelastoidosis of Costa is a rare dermatosis characterized by small, firm papules or plaques (resembling warts) on the sides of the hands and feet. These stationary and asymptomatic lesions appear generally at puberty, or sometimes later" "" + "marginal papular palmoplantar keratoderma" "" + "acrokeratoderma" "" + "dermis elastic tissue disorder" "" + "acquired dermis elastic tissue disorder with increased elastic tissue" "True" + "acrokeratosis verruciformis" "A rare genetic skin keratinization disorder with an autosomal dominant mode of inheritance. It is characterized by numerous flesh-colored warty papules on the back of the hands, medial aspect of the feet, knees, and elbows." "" + "acroleukopathy, symmetric" "" + "acromegaloid changes, cutis verticis gyrata, and corneal leukoma" "" + "acromegaloid facial appearance syndrome" "Acromegaloid facial appearance (AFA) syndrome is a multiple congenital anomalies/dysmorphic syndrome with a probable autosomal dominant inheritance, characterized by a progressively coarse acromegaloid-like facial appearance with thickening of the lips and intraoral mucosa, large and doughy hands and, in some cases, developmental delay. AFA syndrome appears to be part of a phenotypic spectrum that includes hypertrichotic osteochondrodysplasia, Cantu type and hypertrichosis-acromegaloid facial appearance syndrome." "" + "genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome" "An instance of multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome that is caused by an inherited modification of the individual's genome." "" + "growth hormone secreting pituitary adenoma 1" "" + "familial isolated pituitary adenoma" "" + "restless legs syndrome 1" "" + "acromial dimples" "" + "acromicric dysplasia" "Acromicric dysplasia is a rare bone dysplasia characterized by short stature, short hands and feet, mild facial dysmorphism, and characteristic X-ray abnormalities of the hands." "" + "acroosteolysis" "A condition that is characterized by degeneration of the distal phalanges." "" + "primary osteolysis" "" + "acroosteolysis dominant type" "Acroosteolysis dominant type (AOD) is a rare genetic osteolysis syndrome characterized by acroosteolysis of distal phalanges and generalized osteoporosis, associated with additional ossification anomalies, craniofacial dysmorphism, dental anomalies and a wide range of other characteristics." "" + "acropectorovertebral dysplasia" "Acropectorovertebral dysplasia is a skeletal dysplasia characterized by fusion of the carpal and tarsal bones, with complex anomalies of the fingers and toes (preaxial polydactyly of the hands and/or feet, syndactyly of fingers and toes, hypoplasia and dysgenesis of metatarsal bones)." "" + "thoracic malformation" "" + "acrorenal syndrome" "Acrorenal syndrome comprises a wide spectrum of congenital malformative disorders characterized by the co-occurrence of distal limb anomalies (usually bilateral cleft feet and/or hands) and renal defects (e.g. unilateral or bilateral agenesis), that can be associated with a variety of other anomalies such as those of genitourinary tract (genital anomalies, ureteral hypoplasias, vesicoureteral reflux), abdominal well defects, intestinal atresias, and lung malformations. Familial cases have been reported in which an autosomal recessive inheritance was suspected." "" + "spermatogenic failure 6" "Any azoospermia in which the cause of the disease is a mutation in the SPATA16 gene." "" + "male infertility due to globozoospermia" "Male infertility due to globozoospermia is a male infertility due to sperm disorder characterized by the presence, in sperm, of a large majority of round-headed spermatozoa that lack the acrosome and have an aberrant nuclear membrane and midpiece defects. The acrosomeless spermatozoa is not able to penetrate the zona pellucida and thus fertilization failures, even with intracytoplasmic spem injection, are frequent." "" + "acylase, cobalt-activated" "" + "congenital absence/hypoplasia of fingers excluding thumb, unilateral" "Unilateral adactylia is a terminal transverse defect of the hand characterized by the absence of the terminal portions of digits 2 to 5 with a hypoplastic thumb (adactylia)." "" + "congenital absence/hypoplasia of fingers excluding thumb" "" + "obsolete long bone adamantinoma" "A adamantinoma that involves the long bone." "" "true" + "adenosine deaminase deficiency" "A form of SCID characterized by profound lymphopenia and very low immunoglobulin levels of all isotypes resulting in severe and recurrent opportunistic infections." "" + "T-B- severe combined immunodeficiency" "T-B- severe combined immunodeficiency (SCID) is a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T and B lymphocytes, resulting in recurrent early-onset severe respiratory viral, bacterial or fungal infections, diarrhea and failure to thrive. Hypersensitivity to ionizing radiation is a characteristic feature of some of its sub-types." "" + "inborn disorder of purine metabolism" "An acquired metabolic disease that is has its basis in the disruption of purine nucleobase metabolic process." "" + "obsolete adenosine deaminase, elevated, hemolytic anemia due to" "" "true" + "adenosine triphosphatase deficiency, anemia due to" "" + "pyruvate kinase hyperactivity" "Autosomal dominant phenotype characterized by increase of red blood cell ATP." "" + "pyruvate metabolism disorder" "An acquired metabolic disease that is has its basis in the disruption of pyruvate metabolic process." "" + "adenylosuccinate lyase deficiency" "Adenylosuccinate lyase deficiency (ADSL deficiency) is a disorder of purine metabolism characterized by intellectual disability, psychomotor delay and/or regression, seizures, and autistic features." "" + "obsolete Adie syndrome" "" "true" + "adiposis dolorosa" "Adiposis dolorosa or Dercum's disease is characterised by the development of multiple, painful, subcutaneous lipomas in association with obesity, asthenia and fatigue, and range of mental disturbances including instability, depression, confusion, dementia and epilepsy." "" + "adrenocortical hypofunction, chronic primary congenital" "" + "chronic primary adrenal insufficiency" "A chronic disorder of the adrenal cortex resulting in the inadequate production of glucocorticoid and mineralocorticoid hormones." "" + "ADULT syndrome" "ADULT (Acro-dermo-ungual-lacrimal-tooth) syndrome is a rare ectodermal dysplasia syndrome characterized by ectrodactyly, syndactyly, mammary hypoplasia, and excessive freckling as well as other typical ectodermal defects such as hypodontia, lacrimal duct anomalies, hypotrichosis, and onychodysplasia." "" + "EEC syndrome and related syndrome" "" + "hypoglossia-hypodactyly syndrome" "Hanhart syndrome is a rare condition that primarily affects the craniofacial region and the limbs (arms and legs). People affected by this condition are often born with a short, incompletely developed tongue; absent or partially missing fingers and/or toes; abnormalities of the arms and/or legs; and an extremely small jaw. The severity of these physical abnormalities varies greatly among affected people, and children with this condition often have some, but not all, of the symptoms. The cause of Hanhart syndrome is not fully understood. Treatment depends on the signs and symptoms present in each person." "" + "oromandibular-limb hypogenesis syndrome" "Oromandibular-limb hypogenesis syndromes (OLHS) are a group of dysmorphic complexes (including Charlie M syndrome, Hanhart syndrome and glossopalatine ankylosis) characterized by the association of severe asymmetric limb defects (primarily involving distal segments) and abnormalities of the oral cavity and mandible (hypoglossia, aglossia, micrognathia, glossopalatine ankylosis, cleft palate, and gingival anomalies)." "" + "ainhum" "Spontaneous autoamputation of a digit, usually the fifth toe. It results from the formation of a fibrotic band which constricts the full radius of the digit and eventually causes the spontaneous autoamputation." "" + "alacrima, congenital, autosomal dominant" "" + "isolated congenital alacrima" "Congenital alacrima is characterised by deficient lacrimation (ranging from a complete absence of tears to hyposecretion of tears) that is present from birth." "" + "obsolete ocular albinism with sensorineural deafness" "" "true" + "Tietz syndrome" "Tietz syndrome is a genetic hypopigmentation and deafness syndrome characterized by congenital profound bilateral sensorineural hearing loss and generalized albino-like hypopigmentation of skin, eyes and hair." "" + "hypopigmentation of the skin" "A condition caused by a deficiency or a loss of melanin pigmentation in the epidermis, also known as hypomelanosis. Hypopigmentation can be localized or generalized, and may result from genetic defects, trauma, inflammation, or infections." "" + "pigmentation disorder with eye involvement, excluding albinism" "True" + "pseudohypoparathyroidism type 1A" "Pseudohypoparathyroidism type 1A (PHP1a) is a type of pseudohypoparathyroidism (PHP) characterized by renal resistance to parathyroid hormone (PTH), resulting in hypocalcemia, hyperphosphatemia, and elevated PTH; resistance to other hormones including thydroid stimulating hormone (TSH), gonadotropins and growth-hormone-releasing hormone (GHRH); and a constellation of clinical features known as Albright hereditary osteodystrophy (AHO)." "" + "syndromic genetic obesity" "" + "pseudohypoparathyroidism" "Pseudohypoparathyroidism (PHP) is a heterogeneous group of endocrine disorders characterized by normal renal function and resistance to the action of parathyroid hormone (PTH), manifesting with hypocalcemia, hyperphosphatemia and elevated PTH levels and that includes the subtypes PHP type 1a (PHP-1a), PHP type 1b (PHP-1b), PHP type 1c (PHP-1c), PHP type 2 (PHP-2) and pseudopseudohypoparathyroidism (PPHP)." "" + "musculoskeletal disease with cataract" "True" + "alcohol dependence" "Physical and psychological dependence on alcohol." "" + "glucocorticoid-remediable aldosteronism" "Familial hyperaldosteronism type I (FH-I) is a rare heritable, glucocorticoid remediable form of primary aldosteronism (PA) characterized by early-onset hypertension, hyperaldosteronism, variable hypokalemia, low plasma renin activity (PRA), and abnormal production of 18-oxocortisol and 18-hydroxycortisol." "" + "familial hyperaldosteronism" "Familial hyperaldosteronism (FH) is the heritable form of primary aldosteronism (PA) which comprises three identified subtypes to date: FH type I (FH-I) characterized by early-onset hypertension, glucocorticoid remediable adrenocorticotropic hormone (ACTH)-dependent hyperaldosteronism, variable hypokalemia, and overproduction of 18-oxocortisol and 18-hydroxycortisol; FH type II (FH-II) characterized by hypertension of varying severity and hyperaldosteronism not suppressible by dexamethasone; and FH type III (FH-III) characterized by profound hypokalemia, early-onset severe hypertension, non glucocorticoid-remediable hyperaldosteronism, and overproduction of 18-oxocortisol and 18-hydroxycortisol." "" + "obsolete allergic bronchopulmonary aspergillosis" "" "true" + "alopecia areata 1" "" + "autosomal dominant palmoplantar keratoderma and congenital alopecia" "Autosomal dominant palmoplantar keratoderma with congenital alopecia (PPK-CA) is a rare genetic skin disorder characterized by absence of scalp and body hair and palmoplantar keratoderma, without other hand complications." "" + "diffuse palmoplantar keratoderma" "" + "ectodermal dysplasia syndrome" "The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures." "" + "familial focal alopecia" "" + "alopecia-epilepsy-pyorrhea-intellectual disability syndrome" "Alopecia-epilepsy-pyorrhea-intellectual disability syndrome is characterized by congenital permanent alopecia universalis, intellectual disability, psychomotor epilepsy and periodontitis (pyorrhea). Total permanent alopecia and pyorrhea are invariably concomitant while intellectual disability and psychomotor epilepsy are observed in most patients. No other abnormality of nails or skin (apart from absence of hair) has been reported. Transmission is autosomal dominant." "" + "autosomal dominant Alport syndrome" "Autosomal dominant Alport syndrome isa genetic condition characterized by kidney disease, hearing loss, and eye abnormalities. Most affected individuals experience progressive loss of kidney function, usually resulting in end-stage kidney disease. People with Alport syndrome frequently develop sensorineural hearing loss in late childhood or early adolescence. The eye abnormalities seen in this condition seldom lead to vision loss. Alport syndrome can have different patterns of inheritance.Alport syndrome has autosomal dominant inheritance in about 5 percent of cases. People with this form of Alport syndrome have one mutation in either the COL4A3 or COL4A4 gene in each cell." "" + "Alport syndrome" "A genetic syndrome usually inherited as an X-link trait. It is caused by abnormalities in the COL4A5 gene. It affects males more often than females and is characterized by hematuria, progressive renal insufficiency, hearing loss, and ocular abnormalities." "" + "alternating hemiplegia of childhood 1" "Any alternating hemiplegia of childhood in which the cause of the disease is a mutation in the ATP1A2 gene." "" + "alternating hemiplegia of childhood" "A rare neurodevelopmental disorder characterized by recurrent episodes of hemiplegia and paroxysmal disturbances associated with persistent developmental delay and cognitive impairment." "" + "Alzheimer disease type 1" "" + "early-onset autosomal dominant Alzheimer disease" "Early-onset autosomal dominant Alzheimer disease (EOAD) is a progressive dementia with reduction of cognitive functions. EOAD presents the same phenotype as sporadic Alzheimer disease (AD) but has an early age of onset, usually before 60 years old." "" + "Alzheimer disease 2" "An Alzheimer's disease that is characterized by an association of the apolipoprotein E E4 allele." "" + "genetic dementia" "Genetic dementia." "" + "familial Alzheimer disease" "A degenerative disease of the brain that causes gradual loss of memory, judgment, and the ability to function socially. About 25% of all Alzheimer disease is familial (more than 2 people in a family have AD). When Alzheimer disease begins before 60 or 65 years of age (early-onset AD) about 60% of the cases are familial (also known as Early-onset familial AD). These cases appear to be inherited in an autosomal dominant manner." "" + "amastia, bilateral, with ureteral triplication and dysmorphism" "" + "amelia and terminal transverse hemimelia" "" + "amelogenesis imperfecta type 1B" "Any amelogenesis imperfecta in which the cause of the disease is a mutation in the ENAM gene." "" + "amelogenesis imperfecta" "Amelogenesis imperfecta (AI) represents a group of developmental conditions affecting the structure and clinical appearance of the enamel of all or nearly all the teeth in a more or less equal manner, and which may be associated with morphologic or biochemical changes elsewhere in the body." "" + "amelogenesis imperfecta type 1" "" + "hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism" "Any amelogenesis imperfecta in which the cause of the disease is a mutation in the DLX3 gene." "" + "amelogenesis imperfecta type 1A" "Any amelogenesis imperfecta in which the cause of the disease is a mutation in the LAMB3 gene." "" + "ameloonychohypohidrotic syndrome" "" + "amenorrhea-galactorrhea syndrome" "" + "Finnish type amyloidosis" "" + "syndromic corneal dystrophy" "A corneal dystrophy (disease) that is part of a larger syndrome." "" + "ACys amyloidosis" "Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Icelandic type is a form of HCHWA characterized by an age of onset of 20-30 years, systemic amyloidosis and recurrent lobar intracerebral hemorrhages." "" + "familial visceral amyloidosis" "" + "familial amyloid neuropathy" "Familial amyloid polyneuropathy (FAP) or transthyretin (TTR) amyloid polyneuropathy is a progressive sensorimotor and autonomic neuropathy of adulthood onset. Weight loss and cardiac involvement are frequent; ocular or renal complications may also occur." "" + "hereditary ATTR amyloidosis" "" + "familial primary localized cutaneous amyloidosis" "" + "primary cutaneous amyloidosis" "Cutaneous amyloidosis refers to a variety of skin diseases characterized histologically by the extracellular accumulation of amyloid deposits in the dermis. Rare forms include lichen amyloidosus, X-linked reticulate pigmentary disorder, primary localized cutaneous nodular amyloidosis, and macular amyloidosis." "" + "amyotrophic dystonic paraplegia" "" + "amyotrophic lateral sclerosis type 1" "" + "amyotrophic lateral sclerosis-parkinsonism-dementia complex" "" + "frontotemporal dementia and/or amyotrophic lateral sclerosis 1" "Any frontotemporal dementia with motor neuron disease in which the cause of the disease is a mutation in the C9orf72 gene." "" + "frontotemporal dementia with motor neuron disease" "Frontotemporal dementia with motor neuron disease (FTD-MND) is a type of frontotemporal lobar degeneration characterized by the insidious onset (between the ages of 38-78 years) of dementia-associated psychiatric symptoms (e.g. personality changes, uninhibited behavior, irritability, aggressiveness), memory difficulties, global intellectual impairment, emotional disorders and transcortical motor aphasia that eventually leads to mutism, in addition to the manifestations of motor neuron disease such as neurogenic muscular wasting (similar to what is seen in amyotrophic lateral sclerosis). The disease is progressive, with death occurring 2-5 years after onset." "" + "frontotemporal dementia and/or amyotrophic lateral sclerosis" "" + "anal sphincter dysplasia" "" + "anal sphincter myopathy, internal" "" + "epithelial tumor of anal canal" "A epithelial neoplasm that involves the anal canal." "" + "congenital dyserythropoietic anemia type 3" "Congenital dyserythropoietic anemia type III (CDA III) is a rare form of CDA characterized by dyserythropoiesis, with big multinucleated erythroblasts in the bone marrow, and manifesting with mild to moderate anemia." "" + "congenital dyserythropoietic anemia" "Congenital dyserythropoietic anemia (CDA) is a heterogenous group of hematological disorders of late erythropoiesis and red cell abnormalities that lead to anemia. Five types of CDA are defined: CDA I, CDA II, CDA III, CDA IV and thrombocytopenia with CDA." "" + "Diamond-Blackfan anemia 1" "Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS19 gene." "" + "Diamond-Blackfan anemia" "A congenital aregenerative and often macrocytic anemia with erythroblastopenia." "" + "aneurysm, intracranial berry type 1" "" + "intracranial berry aneurysm" "An intracranial aneurysm with a characteristic rounded shape; the most common form of cerebral aneurysm." "" + "interventricular septum aneurysm" "Interventricular septum aneurysm is a rare, non-syndromic, congenital heart malformation characterized by the presence of a congenital aneurysm of the membranous portion of the interventricular septum. Patients may be asymptomatic or may present with ventricular or supraventricular tachycardia, fatigue, exertional dyspnea, palpitations, and cardiac murmur. Ventricular septal defects and conduction defects, such as first-degree atrio-ventricular block or incomplete right bundle branch block, may also be also associated." "" + "congenital anomaly of ventricular septum" "A congenital heart malformation that involves the interventricular septum." "" + "Angelman syndrome" "Angelman syndrome (AS) is a neurogenetic disorder characterized by severe intellectual deficit and distinct facial dysmorphic features." "" + "angel-shaped phalango-epiphyseal dysplasia" "Angel-shaped phalango-epiphyseal dysplasia (ASPED) is a form of acromelic dysplasia characterized by the distinctive radiological sign of angel-shaped middle phalanges, a typical metacarpophalangeal pattern profile (mainly affecting first metacarpals and middle phalanges of second, third and fifth digits, which all appear short), epiphyseal changes in the hips and, in some, abnormal dentition and delayed bone age." "" + "angioma serpiginosum, autosomal dominant" "" + "angioma serpiginosum" "Angioma serpiginosum (AS) is a benign congenital skin disease characterised by progressive dilation of the subepidermal skin vessels manifesting as purple punctate lesions usually appearing on the lower limbs and buttocks and following the lines of Blaschko." "" + "hereditary neurocutaneous angioma" "Hereditary neurocutaneous angioma is characterised by the association of cerebral and cutaneous angiomatous lesions. It has been described in less than 10 families. Clinical manifestations of the cerebral lesions include epilepsy, cerebral haemorrhage, and focal neurological deficit. Transmission is autosomal dominant." "" + "neurovascular malformation" "" + "malformation syndrome with hamartosis" "True" + "obsolete angioedema, hereditary, type 1/2" "" "true" + "isolated anhidrosis with normal sweat glands" "Any anhidrosis in which the cause of the disease is a mutation in the ITPR2 gene." "" + "isolated aniridia" "Isolated aniridia is a congenital bilateral ocular malformation characterized by the complete or partial absence of the iris." "" + "aniridia" "Aniridia is a congenital ocular malformation characterized by the complete or partial absence of the iris. It can be isolated or part of a syndrome (isolated and syndromic aniridia)." "" + "aniridia-absent patella syndrome" "Aniridia-absent patella is a syndrome described in three members of a family (a boy, his father, and his paternal grandmother) that is characterized by the association of aniridia with patella aplasia or hypoplasia. The grandmother also had bilateral cataracts and glaucoma. There have been no further descriptions in the literature since 1975." "" + "syndromic aniridia" "A aniridia that is part of a larger syndrome." "" + "aniridia, microcornea, and spontaneously Reabsorbed cataract" "" + "anisocoria" "Unequal pupil size, which may represent a benign physiologic variant or a manifestation of disease. Pathologic anisocoria reflects an abnormality in the musculature of the iris (iris diseases) or in the parasympathetic or sympathetic pathways that innervate the pupil. Physiologic anisocoria refers to an asymmetry of pupil diameter, usually less than 2mm, that is not associated with disease." "" + "ankyloblepharon filiforme adnatum-cleft palate syndrome" "" + "syndromic ankyloblepharon" "" + "ankyloblepharon-ectodermal defects-cleft lip/palate syndrome" "Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome is an ectodermal dysplasia syndrome with defining features of ankyloblepharon filiforme adnatum (AFA), ectodermal abnormalities and a cleft lip and/or palate." "" + "ankyloglossia" "A developmental abnormality in which the bottom of the tongue is attached to the floor of the mouth." "" + "spondyloarthropathy, susceptibility to, 1" "Any spondyloarthropathy, susceptibility to in which the cause of the disease is a mutation in the HLA-B gene." "" + "spondyloarthropathy, susceptibility to" "" + "diffuse idiopathic skeletal hyperostosis" "This syndrome is characterized by the association of ankylosing vertebral hyperostosis with hyperkeratosis of the soles and palms." "" + "annular erythema" "" + "tooth agenesis, selective, 1" "Any tooth agenesis in which the cause of the disease is a mutation in the MSX1 gene." "" + "congenital total pulmonary venous return anomaly" "Total pulmonary venous return (TAPVR) is a form of congenital pulmonary venous return where all of the pulmonary veins drain into the right atrium or one of its tributaries, instead of the left atrium, leading to various manifestations such as fatigue, exertional dyspnea, pulmonary arterial hypertension, cyanosis and progressive congestive heart failure." "" + "congenital pulmonary venous return anomaly" "Congenital pulmonary venous return anomaly is a cardiac malformation where some or all of the pulmonary veins drain into the right atrium or the systemic veins, with or without the presence of pulmonary venous obstruction, leading to various manifestations such as fatigue, exertional dyspnea, pulmonary arterial hypertension, cyanosis and progressive congestive heart failure. The two main subtypes are congenital partial pulmonary venous return anomaly (PAPVC), where one or a few of the pulmonary veins are anomalous, and congenital total pulmonary venous return anomaly (TAPVC), where all of the pulmonary veins are anomalous." "" + "anonychia with flexural pigmentation" "Anonychia with flexural pigmentation is characterised by anonychia and skin abnormalities (hyper- and hypopigmentation in axillae and groins, dry palmar and plantar skin leading to sore and cracked soles). It has been described in a mother and her two children. The mode of transmission is autosomal dominant." "" + "syndromic nail anomaly" "A nail anomaly that is part of a larger syndrome." "" + "anonychia-ectrodactyly" "" + "anonychia-onychodystrophy with brachydactyly type b and ectrodactyly" "" + "Cooks syndrome" "Cooks syndrome is a malformation syndrome affecting the apical structures of digits and presenting with hypo/aplasia of nails and distal phalanges. More than half of digits are usually involved and the thumbs may appear digitalized." "" + "congenital limb malformation" "" + "nonsyndromic congenital nail disorder 6" "" + "isolated congenital anonychia" "Isolated congenital anonychia is characterized by nail abnormalities ranging from onychodystrophy (dystrophic nails) to anonychia (absence of nails). Onychodystrophy-anonychia has been described in at least four generations of a family with male-to-male transmission, suggesting autosomal dominant transmission. Anonychia has been described in approximately less than 20 cases; it is likely to be transmitted as an autosomal recessive trait. Total anonychia congenita, in which all the fingernails and toenails are absent, may have an autosomal dominant inheritance pattern." "" + "anonychia-onychodystrophy syndrome" "" + "genetic anorectal anomalies" "" + "isolated congenital anosmia" "This syndrome is characterised by total or partial anosmia at birth. So far, 15 patients have been described. The anosmia is caused by a defect in the development of the olfactory bulbs or by replacement of the olfactory epithelium by respiratory epithelium. The mode of transmission appears to be autosomal dominant with incomplete penetrance. Isolated congenital anosmia is found in some parents of individuals with Kallman syndrome." "" + "anosmia" "Loss of or impaired ability to smell. This may be caused by olfactory nerve diseases; paranasal sinus diseases; viral respiratory tract infections; craniocerebral trauma; smoking; and other conditions." "" + "anterior segment dysgenesis 1" "" + "anterior segment dysgenesis" "A spectrum of developmental anomalies that affect the development of the anterior segment of the eyeball resulting from abnormalities of neural crest migration and differentiation during embryologic development (Axenfeld-Rieger syndrome, Peters anomaly, posterior keratoconus, and iridoschisis)." "" + "Antipyrine metabolism" "True" + "obsolete antiphospholipid syndrome" "" "true" + "antiviral state repressor, regulator of" "True" + "Townes-Brocks syndrome" "Townes-Brocks syndrome (TBS) is a rare genetic disorder characterized by the triad of imperforate anus, dysplastic ears often associated with sensorineural and/or conductive hearing impairment, and thumb malformations. These features are often associated with other signs mainly affecting the kidneys and heart." "" + "syndromic anorectal malformation" "A anorectal malformation that is part of a larger syndrome." "" + "syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy" "True" + "aortic arch anomaly-facial dysmorphism-intellectual disability syndrome" "Aortic arch anomaly-peculiar facies-intellectual disability syndrome is a developmental anomaly characterized at birth by the presence of right-sided aortic arch, craniofacial dysmorphism (microcephaly, asymmetric, facial bones, broad forehead, borderline hypertelorism, nasal septum deviation, large nasal cavity, large, posteriorly rotated ears, and microstomia with downturned corners), and intellectual disability. These features were observed in 4 members of one family, involving 2 successive generations, suggesting an autosomal dominant mode of transmission. There have been no further descriptions in the literature since 1968." "" + "aortic arch interruption, facial palsy, and retinal coloboma" "" + "aplasia cutis congenita" "Aplasia cutis congenita (ACC) is a rare skin disorder characterized by localized absence of skin that is usually located on the scalp but can occur anywhere on the body including the face, trunk and extremities. ACC may occasionally be associated with other anomalies." "" + "obsolete apnea, central sleep" "" "true" + "obstructive sleep apnea syndrome" "Cessation of air flow during sleep due to upper airway obstruction." "" + "appendicitis, proneness to" "" + "obsolete arbitrary restriction polymorphism 1" "" "true" + "arcus senilis" "A corneal disease in which there is a deposition of phospholipid and cholesterol in the corneal stroma and anterior sclera." "" + "arms, malformation of" "" + "arrhythmogenic right ventricular dysplasia 1" "Any arrhythmogenic right ventricular cardiomyopathy in which the cause of the disease is a mutation in the TGFB3 gene." "" + "familial isolated arrhythmogenic ventricular dysplasia, left dominant form" "" + "familial isolated arrhythmogenic ventricular dysplasia, biventricular form" "" + "familial isolated arrhythmogenic ventricular dysplasia, right dominant form" "" + "arteries, anomalies of" "" + "arteriovenous malformations of the brain" "Cerebral arteriovenous malformation (AVM) is a congenital malformative communication between the veins and the arteries in the brain in the form of a nidus, an anatomical structure composed of dilated and tangled supplying arterioles and drainage veins with no intervening capillary bed, that can be asymptomatic or cause, depending on the location and the size of the AVM, headaches of varying severity, generalized or focal seizures, focalneurological defects (weakness, numbness, speech difficulties, vision loss) or potentially fatal intracranial hemorrhage in case the AVM ruptures." "" + "genetic vascular anomaly" "An instance of vascular anomaly that is caused by a modification of the individual's genome." "" + "arteritis, familial granulomatous, with juvenile polyarthritis" "" + "arthritis, sacroiliac" "" + "arthrogryposis, distal, type 1A" "" + "digitotalar dysmorphism" "Digitotalar dysmorphism, also known as distal arthrogryposis type 1 (DA1), is an autosomal dominant congenital anomaly characterized by contractures of the distal regions of the hands and feet with no facial involvement or any additional anomalies. It is the most common type of distal arthrogryposis." "" + "arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome" "Distal arthrogryposis type 5 is an inherited developmental defect syndrome characterized by multiple congenital contractures of limbs, without primary neurologic and/or muscle disease that affects limb function, and ocular anomalies (ptosis, external ophtalmoplegia and/or strabismus). Intelligence is normal." "" + "distal arthrogryposis" "A muscle tissue disease characterized by congenital joint contractures of hand and feet." "" + "arthrogryposis-like hand anomaly-sensorineural deafness syndrome" "Arthrogryposis-like hand anomaly-sensorineural deafness syndrome is characterized by an arthrogryposis-like hand anomaly and sensorineural deafness. It has been described in only one family. Male-to-male transmission was observed." "" + "Stickler syndrome type 1" "" + "Stickler syndrome" "Stickler syndrome is an inherited vitreoretinopathy characterized by the association of ocular signs with more or less complete forms of Pierre-Robin sequence, bone disorders, and sensorineural deafness (10% of cases)." "" + "type 2 collagenopathy" "Any disease or disorder in which the cause of the disease is a mutation in the COL2A1 gene." "" + "spermatogenic failure 2" "" + "male infertility with azoospermia or oligozoospermia due to single gene mutation" "Male infertility with azoospermia or oligospermia due to single gene mutation is a rare, genetic male infertility due to sperm disorder characterized by the absence of a measurable amount of spermatozoa in the ejaculate (azoospermia), or a number of sperm in the ejaculate inferior to 15 million/mL (oligozoospermia), resulting from a mutation in a single gene known to cause azoo- or oligo-spermia. Sperm morphology may be normal." "" + "asymmetric short stature syndrome" "" + "episodic ataxia type 2" "Episodic ataxia type 2 (EA2) is the most frequent form of Hereditary episodic ataxia (EA) characterized by paroxysmal episodes of ataxia lasting hours, with interictal nystagmus and mildly progressive ataxia." "" + "hereditary episodic ataxia" "Hereditary episodic ataxia (EA) represents a group of neurological disorders characterized by recurrent episodes of ataxia and vertigo which may be progressive. Weakness, dystonia and ataxia are sometimes present in the interictal period. Seven types of EA have been described to date (EA type 1 to EA type 7), but most of the reported cases belong to EA1 and EA2." "" + "spastic ataxia 1" "Any autosomal dominant spastic ataxia in which the cause of the disease is a mutation in the VAMP1 gene." "" + "autosomal dominant spastic ataxia" "Autosomal dominant form of spastic ataxia." "" + "spastic ataxia 7" "Spastic ataxia with congenital miosis is a rare hereditary ataxia characterized by an apparently non-progressive or slowly progressive symmetrical ataxia of gait, pyramidal signs in the limbs, spasticity and hyperreflexia (especially in the lower limbs) together with dysarthria and impaired pupillary reaction to light, presenting as a fixed miosis (with pupils that seldom exceed 2 mm in diameter and dilate poorly with mydriatics). Nystagmus may also be present." "" + "ataxia with fasciculations" "" + "hereditary ataxia" "An instance of an atactic disorder that is caused by an inherited genomic modification in an individual." "" + "atelosteogenesis type I" "Atelosteogenesis I is a perinatally lethal skeletal dysplasia characterized by severe short-limbed dwarfism, joint dislocations, club feet along with distinctive facies and radiographic findings." "" + "filamin-related bone disorder" "" + "primary bone dysplasia with multiple joint dislocations" "True" + "atelosteogenesis type III" "Atelosteogenesis III (AOIII) is a skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings." "" + "atherosclerosis susceptibility" "" + "atresia of external auditory canal and conductive deafness" "" + "external auditory canal aplasia/hypoplasia" "" + "atrial standstill 1" "Any atrial standstill in which the cause of the disease is a mutation in the GJA5 gene." "" + "atrial standstill" "Atrial standstill is a rare cardiac rhythm disease with a few familial and sporadic cases described to date that is characterized by a transient or permanent absence of electrical and mechanical atrial activity. Electrocardiographic findings include bradycardia, ectopic supraventricular rhythms, lack of atrial excitability and absent P waves." "" + "atrial septal defect 1" "An atrial heart septal defect type 1 associated with variation in the region 5p." "" + "atrial septal defect 7" "Atrial septal defect (ASD) with atrioventricular conduction defects is an extremely rare genetic congenital heart disease characterized by the presence of ASD, mostly of the ostium secundum type, associated with conduction anomalies like atrioventricular block, atrial fibrillation or right bundle branch block." "" + "Lown-Ganong-Levine syndrome" "Lown-Ganong-Levine syndrome is an extremely rare conduction disorder characterized by a short PR interval (less than or equal to 120 ms) with normal QRS complex on electrocardiogram associated with the occurrence of episodes of atrial tachyarrythmias (e.g. atrial fibrillation, atrial tachycardia)." "" + "PR interval, variation 1N" "" + "helicoid peripapillary chorioretinal degeneration" "Helicoid peripapillary chorioretinal degeneration is a rare autosomal dominantly inherited chorioretinal degeneration disease, presenting at birth or infancy, characterized by progressive bilateral retinal and choroidal atrophy, appearing as lesions on the optic nerve and peripheral ocular fundus and leading to central vision loss. Congenital anterior polar cataracts are sometimes associated with this disease." "" + "auriculoosteodysplasia" "Auriculoosteodysplasia is a very rare condition characterized by multiple osseous dysplasia, characteristic ear shape (elongation of the lobe that is attached and accompanied by a small, slightly posterior lobule) and somewhat short stature." "" + "aurocephalosyndactyly" "" + "Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities" "" + "axial osteomalacia" "" + "familial osteosclerosis" "An instance of osteosclerosis that is caused by an inherited modification of the individual's genome." "" + "Machado-Joseph disease" "Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease, is the most common subtype of type 1 autosomal dominant cerebellar ataxia (ADCA type 1), a neurodegenerative disorder, and is characterized by ataxia, external progressive ophthalmoplegia, and other neurological manifestations." "" + "autosomal dominant cerebellar ataxia type I" "Autosomal dominant cerebellar ataxia (ADCA) type I is a group of spinocerebellar ataxias (SCAs) characterized by ataxia with other neurological signs, including oculomotor disturbances, cognitive deficits, pyramidal and extrapyramidal dysfunction, bulbar, spinal and peripheral nervous system involvement." "" + "azotemia, familial" "" + "alopecia, androgenetic, 1" "" + "Banki syndrome" "Banki syndrome is a synostosis syndrome, reported in a single Hungarian family in which members of 3 generations showed lunotriquetral synostosis, clinodactyly, clinometacarpy, brachymetacarpy and leptometacarpy (thin diaphysis). It appeared to be a unique dominant mutation. There have been no further descriptions in the literature since 1965." "" + "nevoid basal cell carcinoma syndrome" "A rare hereditary disorder due to autosomal dominant transmission with hamartosis characterized by multiple early-onset basal cell carcinoma (BCC), multiple jaw keratocysts and skeletal abnormalities." "" + "inherited nervous system cancer-predisposing syndrome" "" + "malignant tumor of palpebral epidermis" "A cancer that involves the skin of eyelid." "" + "primary basilar invagination" "Primary basilar impression (PBI) is a very rare skeletal developmental defect characterized by congenital upward translocation of the upper cervical spine and clivus into the foramen magnum. PBI can be asymptomatic or associated with severe neurological dysfunction." "" + "obsolete B-cell growth factor" "" "true" + "leukemia, chronic lymphocytic, susceptibility to, 2" "" + "Behcet disease" "A chronic, relapsing, multisystemic vasculitis characterized by mucocutaneous lesions, as well as articular, vascular, ocular and central nervous system manifestations." "" + "skin vascular disease" "A disease that involves the superficial vasculature." "" + "predominantly large-vessel vasculitis" "" + "inflammatory and autoimmune disease with epilepsy" "True" + "obsolete systemic diseases with anterior uveitis" "" "true" + "obsolete systemic diseases with posterior uveitis" "" "true" + "obsolete systemic diseases with panuveitis" "" "true" + "autoinflammatory syndrome with skin involvement" "True" + "obsolete unclassified autoinflammatory syndrome" "" "true" + "beta-amino acids, renal transport of" "" + "primary biliary cholangitis 1" "" + "familial bicuspid aortic valve" "A rare, genetic, aortic malformation defined as a presence of abnormal two-leaflet aortic valve in at least 2 first-degree relatives. It is frequently asymptomatic or may be associated with progressive aortic valve disease (aortic regurgitation and/or aortic stenosis, typically due to valve calcification) and a concomitant aortopathy (i.e. aortic dilation, aortic aneurysm and/or dissection)." "" + "rare disease with thoracic aortic aneurysm and aortic dissection" "True" + "aortic malformation" "" + "bifid nose, autosomal dominant" "" + "obsolete bladder cancer" "" "true" + "Ascher syndrome" "Ascher syndrome is a very rare syndrome characterized by a combination of blepharochalasis, double lip, and non-toxic thyroid enlargement (seen in 10-50% of cases), although the occurrence of all three signs at presentation is uncommon. Hypertrophy of the mucosal zone of the lip with persistence of the horizontal sulcus between cutaneous and mucosal zones gives an appearance of double lip, with the upper lip being frequently involved. Blepharochalasis, or episodic edema of eyelid, appears around puberty, is present in 80% of cases, is usually bilateral, and can rarely lead to vision impairment and other ocular complications. Most cases are sporadic, but familial cases (with a possible autosomal dominant inheritance) have also been reported." "" + "blepharochalasis, superior" "" + "blepharonasofacial malformation syndrome" "Blepharonasofacial syndrome is a rare otorhinolaryngological malformation syndrome characterized by a distinctive mask-like facial dysmorphism, lacrimal duct obstruction, extrapyramidal features, digital malformations and intellectual disability." "" + "blepharophimosis, ptosis, and epicanthus inversus syndrome" "Blepharophimosis, Ptosis, and Epicanthus Inversus syndrome (BPES) is an ophthalmic disorder characterized by blepharophimosis, ptosis, epicanthus inversus, and telecanthus, that can appear associated with (type I) or without premature ovarian failure (POF) (type II)." "" + "telecanthus" "" + "inherited primary ovarian failure" "An instance of primary ovarian failure that is caused by an inherited modification of the individual's genome." "" + "blepharoptosis-myopia-ectopia lentis syndrome" "This syndrome is characterised by bilateral congenital blepharoptosis, ectopia lentis and high myopia." "" + "lens position anomaly" "Partial or complete displacement of the crystalline lens from its normal position in the eye." "" + "blue rubber bleb nevus" "Blue rubber bleb nevus (BRBNS) is a rare vascular malformation disorder with cutaneous and visceral lesions frequently associated with serious, potentially fatal bleeding and anemia." "" + "Cole-Carpenter syndrome 1" "Any Cole-Carpenter syndrome in which the cause of the disease is a mutation in the P4HB gene." "" + "Cole-Carpenter syndrome" "Cole-Carpenter syndrome is an extremely rare form of bone dysplasia characterized by the features of osteogenesis imperfecta such as bone fragility associated with multiple fractures, bone deformities (metaphyseal irregularities and bowing of the long bones) and blue sclera, in association with growth failure, craniosynostosis, hydrocephalus, ocular proptosis, and distinctive facial features (e.g. frontal bossing, midface hypoplasia, and micrognathia)." "" + "diaphyseal medullary stenosis-bone malignancy syndrome" "Diaphyseal medullary stenosis with malignant fibrous histiocytoma is a very rare autosomal dominant bone dysplasia/cancer syndrome characterized clinically by bone infarctions, cortical growth abnormalities, pathological fractures, and development of bone sarcoma (malignant fibrous histiocytoma)." "" + "primary bone dysplasia" "" + "primary bone dysplasia with increased bone density" "True" + "bone pain, periodic" "" + "Böök syndrome" "Book syndrome is a rare autosomal dominant ectodermal dysplasia syndrome reported in a Swedish family (25 cases from 4 generations), and one isolated case, and is characterized by premolar aplasia, hyperhidrosis, and premature graying of the hair. Additional features reported in the isolated case include a narrow palate, hypoplastic nails, eyebrow anomalies, a unilateral simian crease, and poorly formed dermatoglyphics." "" + "Boomerang dysplasia" "Boomerang dysplasia (BD) is a rare lethal skeletal dysplasia characterized by severe short-limbed dwarfism, dislocated joints, club feet, distinctive facies and diagnostic x-ray findings of underossified and dysplastic long tubular bones, with a boomerang-like bowing." "" + "Weismann-Netter syndrome" "Weismann-Netter syndrome is a rare, genetic, primary, bent bone dysplasia characterized by anterior diaphyseal bowing of the tibia and fibula, broadening of the fibula, posterior cortical thickening of both bones and short stature. Additional skeletal abnormalities include scoliosis with marked lumbar lordosis, horizontal sacrum and square iliac wings and/or, less frequently, vertebral malformations, abnormal shape of the clavicles and ribs, calvarial hyperostosis and delayed eruption of permanent teeth. Delayed ambulation is also frequently associated." "" + "bent bone dysplasia" "" + "Brachmann-de Lange-like facial changes with microcephaly, metatarsus adductus, and developmental delay" "" + "brachydactyly-arterial hypertension syndrome" "Brachydactyly - arterial hypertension is a rare genetic brachydactyly syndrome characterized by the association of brachydactyly type E with hypertension (due to vascular or neurovascular anomalies) as well as the additional features of short stature and low birth weight (compared to non-affected family members), stocky build and a round face. The onset of hypertension is often in childhood and, if untreated, most patients will have had a stroke by the age of 50." "" + "syndrome with brachydactyly" "Brachydactyly ('short digits') is a general term that refers to disproportionately short fingers and toes, and forms part of the group of limb malformations characterized by bone dysostosis." "True" + "brachydactyly-long thumb syndrome" "Brachydactyly - long thumb syndrome is a very rare autosomal dominant heart-hand syndrome that is characterized by bisymmetric brachydactyly accompanied by long thumbs, joint anomalies (restriction of motion at the shoulder and metacarpophalangeal joints) and cardiac conduction defects. Additional features include small hands and feet, clinodactyly, narrow shoulders with short clavicles, pectus excavatum and mild shortness of the limbs, cardiomegaly and murmur of pulmonic stenosis.It has been described in four family members from three generations, with no new cases having been reported since 1981." "" + "heart-hand syndrome" "Heart-hand syndrome refers to a group of congenital disorders characterized by malformations of the upper limbs and heart. To date, heart-hand syndrome comprises the following rare syndromes; Holt-Oram syndrome; heart-hand syndrome type 2; heart-hand syndrome type 3; heart hand syndrome, Slovenian type, brachydactyly-long thumb; and patent ductus arteriosus-bicuspid aortic valve - hand anomalies." "" + "Ballard syndrome" "Ballard syndrome is characterized by hypoplasia of the distal phalanges of the ulnar side of the hand and shortening of one or more metacarpals. In contrast to brachydactyly type E, patients with Ballard syndrome have normal stature." "" + "brachydactyly" "A disease characterized by the presence of brachydactyly, including syndromic and non-syndromic forms." "" + "brachydactyly-preaxial hallux varus syndrome" "Preaxial brachydactyly-hallux varus syndrome is characterized the association of hallux varus with short thumbs and first toes (involving the metacarpals, metatarsals, and distal phalanges; the proximal and middle phalanges are of normal length) and abduction of the affected digits." "" + "brachydactyly type A1" "Brachydactyly type A1 (BDA1) is a congenital malformation characterized by apparent shortness (or absence) of the middle phalanges of all digits, and occasional fusion with the terminal phalanges." "" + "brachydactyly type A2" "Brachydactyly type A2 (BDA2) is a congenital malformation characterized by shortening (hypoplasia or aplasia) of the middle phalanges of the index finger and, sometimes, of the little finger." "" + "brachydactyly type A3" "" + "brachydactyly type A4" "Brachydactyly type A4 (BDA4) is a congenital malformation characterized by brachymesophalangy affecting mainly the 2nd and the 5th digit." "" + "brachydactyly type A6" "Brachydactyly A6 (BDA6) is characterized by brachymesophalangy with mesomelic short limbs, and carpal and tarsal bone abnormalities. In general, the affected individuals are of slightly short stature and normal intelligence. The syndrome has been described in a kindred with seven affected members from three generations. Transmission appears to be autosomal dominant." "" + "acromesomelic dysplasia" "Acromesomelic dysplasia describes a group of extremely rare, inherited, progressive skeletal conditions that result in a particular form of short stature, called short-limb dwarfism. The short stature is the result of unusually short forearms and forelegs (mesomelia) and abnormal shortening of the bones in the hands and feet (acromelia). At birth, the hands and feet may appear abnormally short and broad. Over time, the apparent disproportion becomes even more obvious, especially during the first years of life. Additional features may include: limited extension of the elbows and arms; progressive abnormal curvature of the spine; an enlarged head; and a slightly flattened midface. Acromesomelic dysplasia is inherited as an autosomal recessive trait. There are different types of acromesomelic dysplasia, which are distinguished by their genetic cause. To read more about the different types, click on the links below. Acromesomelic dysplasia, Maroteaux type Acromesomelic dysplasia, Hunter-Thompson type Acromesomelic dysplasia, Grebe type" "" + "brachydactyly type B1" "Any brachydactyly type B in which the cause of the disease is a mutation in the ROR2 gene." "" + "brachydactyly type B" "A condition characterized by incomplete development (hypoplasia) or absence of the outermost bones of the fingers and toes (distal phalanges) and nails. Additional features may include hypoplasia of the middle phalanges, fusion of the joints (symphalangism), broad thumbs, and webbed fingers (syndactyly). The feet are often less severely affected than the hands. There are 2 types of this condition, designated as type 1 and 2. BDB type 1 is caused by mutations in the ROR2 gene. BDB type 2 is caused by mutations in the NOG gene. Inheritance of both types is autosomal dominant. Treatment may include surgery if the condition affects hand function, or for cosmetic reasons." "" + "brachydactyly type C" "" + "brachydactyly type D" "A brachydactyly characterized by short and broad terminal phalanges of the thumbs and big toes that has material basis in mutation in the HOXD13 gene on chromosome 2q31.1." "" + "brachydactyly type E1" "Any brachydactyly type E in which the cause of the disease is a mutation in the HOXD13 gene." "" + "brachydactyly type E" "Brachydactyly type E (BDE) is a congenital malformation of the digits characterized by variable shortening of the metacarpals with more or less normal length phalanges, although the terminal phalanges are often short." "" + "brachydactyly, type E, with atrial septal defect, type 2" "" + "fibular aplasia-ectrodactyly syndrome" "Fibular aplasia-ectrodactyly syndrome is characterized by fibular aplasia and ectrodactyly. Less than 50 familial and sporadic cases have been reported in the literature. Shortening of the femur, a curved tibia, severe foot anomalies and pathologies of the hip, knee and ankle may also be present. The disorder is probably inherited as an autosomal dominant trait, with reduced penetrance, especially in females." "" + "brachydactyly-nystagmus-cerebellar ataxia syndrome" "Brachydactyly-nystagmus-cerebellar ataxia syndrome is characterized by brachydactyly, nystagmus and cerebellar ataxia. Intellectual deficit and strabismus are also reported in some patients." "" + "Sillence syndrome" "Sillence syndrome (brachydactyly-symphalangism syndrome) resembles type A1 brachydactyly (variable shortening of the middle phalanges of all digits) with associated symphalangism (producing a distal phalanx with the shape of a chess pawn). Scoliosis, clubfoot and tall stature are also characteristic." "" + "brachymesomelia-renal syndrome" "" + "Brachymetatarsus 4" "" + "Brachymorphism-onychodysplasia-dysphalangism syndrome" "Brachymorphism-onychodysplasia-dysphalangism (BOD) is a very rare malformation syndrome that is characterized by short stature, hypoplastic fifth digits with tiny dysplastic nails, facial dysmorphism with coarse features including a wide mouth and broad nose, and mild intellectual disability. It has been suggested that Coffin-Siris syndrome and BOD syndrome are perhaps allelic variants." "" + "brachytelephalangy-dysmorphism-Kallmann syndrome" "Brachytelephalangy - dysmorphism - Kallmann syndrome is a developmental anomaly characterized by brachytelephalangy, distinct craniofacial features (prominent square forehead, telecanthus, small nose, malar hypoplasia, smooth philtrum and thin upper lip), and relative to other family members, a short stature. These features may be associated with anosmia and hypogonadotropic hypogonadism (considered as Kallman syndrome). Brachytelephalangy - dysmorphism - Kallmann syndrome has been described in a mother and her son and there have been no further descriptions in the literature since 1986." "" + "congenital hypogonadotropic hypogonadism" "Congenital hypogonadotropic hypogonadism (CHH) is a rare disorder of sexual maturation characterized by gonadotropin (Gn) deficiency with low sex steroid levels associated with low levels of follicle stimulating hormone (FSH) and luteinizing hormone (LH)." "" + "autosomal dominant brachyolmia" "Autosomal dominant brachyolmia is a relatively severe form of brachyolmia, a group of rare genetic skeletal disorders, characterized by short-trunked short stature, platyspondyly and kyphoscoliosis. Degenerative joint disease (osteoarthropathy) in the spine, large joints and interphalangeal joints becomes manifest in adulthood." "" + "brachyolmia" "Brachyolmia is a rare, clinically and genetically heterogeneous group of bone disorders characterized by short trunk, mild short stature, scoliosis and generalized platyspondyly without significant abnormalities in the long bones." "" + "TRPV4-related bone disorder" "" + "second branchial cleft anomaly" "A congenital defect in the neck that occurs during early embryonic development. It is caused by developmental abnormalities of the pharyngeal arches and results in the development of a cyst or a fissure in the side of the neck." "" + "cysts and fistulae of the face and oral cavity" "" + "branchial myoclonus with spastic paraparesis and cerebellar ataxia" "" + "branchiooculofacial syndrome" "Branchio-oculo-facial syndrome (BOFS) is characterised by low birth weight and growth retardation, bilateral branchial clefts that may be hemangiomatous, sometimes with linear skin lesions behind the ears ('burn-like' lesions), congenital strabismus, obstructed nasolacrimal ducts, a broad nasal bridge with a flattened nasal tip, a protruding upper lip with an unusually broad and prominent philtrum, and full mouth." "" + "branchiootorenal syndrome 1" "" + "familial juvenile hypertrophy of the breast" "Familial juvenile hypertrophy of the breast is a rare breast malformation disorder characterized by unilateral or bilateral, symmetrical or asymmetrical, uncontrolled, rapid and massive enlargement of the breast(s) in peripubertal females, occurring in various members of a family. Additional associated manifestations may include skin hyperemia, dilated subcutaneous veins, skin necrosis, kyphosis, lordosis and anonychia. Growth and development are otherwise normal." "" + "excess breast volume or number" "" + "amastia" "Absence of one or both mammary glands." "" + "isolated congenital breast hypoplasia/aplasia" "" + "epidermolytic ichthyosis" "A rare keratinopathic ichthyosis (KPI), that is characterized by a blistering phenotype at birth which progressively becomes hyperkeratotic." "" + "keratinopathic ichthyosis" "" + "progressive familial heart block, type 1A" "An autosomal dominant inherited cardiac bundle branch disorder which can progress to complete heart block." "" + "progressive familial heart block" "A hereditary cardiac conduction disorder that may progress to complete atrioventricular (AV) block. The disease is either asymptomatic or manifests as dyspnea, dizziness, syncope, abdominal pain, heart failure or sudden death." "" + "bundle branch block, familial isolated complete right" "" + "butyrylesterase 1" "" + "aggressive B-cell non-Hodgkin lymphoma" "" + "Caffey disease" "Caffey disease is an osteosclerotic dysplasia characterized by acute inflammation with massive subperiosteal new bone formation usually involving the diaphyses of the long bones, as well as the ribs, mandible, scapulae, and clavicles. The disease is associated with fever, irritability pain and soft tissue swelling, with onset around the age of 2 months and resolving spontaneously by the age of 2 years. However, prenatal disease onset has also been described." "" + "neonatal osteosclerotic dysplasia" "" + "cafe au lait spots, multiple" "A cutaneous disorder characterized by the presence of several cafe-au-lait (CAL) macules without any other manifestations of neurofibromatosis or any other systemic disorder." "" + "calcific aortic disease with immunologic abnormalities, familial" "" + "basal ganglia calcification, idiopathic, childhood-onset" "" + "bilateral striopallidodentate calcinosis" "A basal ganglia disease characterized by the accumulation of calcium deposits in different brain regions, particularly the basal ganglia and dentate nucleus, and is often associated with neurodegeneration." "" + "Aicardi-Goutieres syndrome" "Aicardi-Goutieres syndrome (AGS) is an inherited, subacute encephalopathy characterised by the association of basal ganglia calcification, leukodystrophy and cerebrospinal fluid (CSF) lymphocytosis." "" + "hereditary painful callosities" "Hereditary painful callosities is a nummular palmoplantar keratoderma characterized by the development of painful keratotic lesions over pressure points in hands and feet. A few families have been described. Transmission is autosomal dominant. Successful analgesia can be obtained with tretinoin." "" + "isolated focal palmoplantar keratoderma" "A focal palmoplantar keratoderma that is not part of a larger syndrome." "" + "camptobrachydactyly" "Camptobrachydactyly is an extremely rare brachydactyly syndrome, characterized by short broad hands and feet with brachydactyly associated with congenital flexion contractures of the proximal and/or distal interphalangeal joints of the fingers, as well as syndactyly of feet. Polydactyly, septate vagina and urinary incontinence were also occasionally reported. Camptobrachydactyly has been described in 18 members of 1 family, suggesting an autosomal dominant inheritance. There have been no further descriptions in the literature since 1972." "" + "camptodactyly of fingers" "Camptodactyly of fingers is a rare, genetic, non-syndromic, congenital limb malformation characterized by a painless, non-traumatic, non-neurogenic, often bilateral, permanent flexion contracture at the proximal interphalangeal joint of a postaxial finger, resulting in permanent volar inclination of the affected digit. The fifth finger is always involved, but additional digits might also be affected." "" + "congenital deformities of fingers" "" + "campomelic dysplasia" "Campomelic dysplasia is a very rare disorder characterised by a variable association of skeletal abnormalities (bowed and fragile long bones, pelvis and chest abnormalities, eleven rib pairs instead of the usual twelve), and extraskeletal abnormalities (facial dysmorphology, cleft palate, sexual ambiguity or sex reversal in two thirds of the affected boys, and brain, heart and kidney malformations)." "" + "syndrome with 46,XY disorder of sex development" "True" + "Gordon syndrome" "Gordon syndrome, also known as distal arthrogryposis type 3, is an extremely rare multiple congenital malformation syndrome characterized by congenital contractures of hand and feet with variable degrees of severity of camptodactyly, clubfoot and, less frequently, cleft palate. Intelligence is normal but in some cases, additional abnormalities, such as short stature, kyphoscoliosis, ptosis, micrognathia, and cryptorchidism may also be present. Gordon syndrome, Marden-Walker syndrome and arthrogryposis with oculomotor limitation and electroretinal anomalies clinically and genetically overlap, and could represent variable expressions of the same condition." "" + "cancer, familial, with in vitro Radioresistance" "" + "obsolete colorectal cancer" "" "true" + "candidiasis, familial, 1" "" + "chronic mucocutaneous candidiasis" "" + "canine teeth, absence of upper permanent" "" + "craniofaciofrontodigital syndrome" "Craniofaciofrontodigital is a rare multiple congenital anomalies syndrome characterized by mild intellectual disability, short stature, cardiac anomalies, mild dysmorphic features (macrocephaly, prominent forehead, hypertelorism, exophthalmos), cutis laxa, joint hyperlaxity, wrinkled palms and soles and skeletal anomalies (sella turcica, wide ribs and small vertebral bodies)." "" + "inherited cutis laxa" "An instance of cutis laxa that is inherited." "" + "Car factor deficiency" "" + "Carabelli anomaly of maxillary molar teeth" "" + "obsolete carcinoid syndrome" "" "true" + "sudden cardiac arrest" "An unexpected natural death from a cardiac cause within a short time period from the onset of symptoms." "" + "cardiofaciocutaneous syndrome 1" "Any cardiofaciocutaneous syndrome in which the cause of the disease is a mutation in the BRAF gene." "" + "cardiofaciocutaneous syndrome" "Cardiofaciocutaneous (CFC) syndrome is a RASopathy characterized by craniofacial dysmorphology, congenital heart disease, dermatological abnormalities (most commonly hyperkeratotic skin and sparse, curly hair), growth retardation and intellectual disability." "" + "hypertrophic cardiomyopathy 2" "Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the TNNT2 gene." "" + "familial hypertrophic cardiomyopathy" "Hypertrophic cardiomyopathy caused by mutations in the genes encoding components of the sarcomere, in the absence of predisposing conditions." "" + "hypertrophic cardiomyopathy 3" "Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the TPM1 gene." "" + "hypertrophic cardiomyopathy 4" "An autosomal dominant condition caused by mutation(s) in the MYBPC3 gene, encoding MYBPC3 protein. It is characterized by severe neonatal hypertrophic cardiomyopathy." "" + "dilated cardiomyopathy 1A" "Familial dilated cardiomyopathy with conduction defect due to LMNA mutation is a rare familial dilated cardiomyopathy characterized by left ventricular enlargement and/or reduced systolic function preceded or accompanied by significant conduction system disease and/or arrhythmias including bradyarrhythmias, supraventricular or ventricular arrhythmias. Disease onset is usually in early to mid-adulthood. Sudden cardiac death may occur and may be the presenting symptom. In some cases, it is associated with skeletal myopathy and elevated serum creatine kinase." "" + "familial isolated dilated cardiomyopathy" "Familial isolated dilated cardiomyopathy is a rare, genetically heterogeneous cardiac disease characterized by dilatation leading to systolic and diastolic dysfunction of the left and/or right ventricles, causing heart failure or arrhythmia." "" + "cardiomyopathy, familial restrictive, 1" "Any familial isolated restrictive cardiomyopathy in which the cause of the disease is a mutation in the TNNI3 gene." "" + "familial isolated restrictive cardiomyopathy" "Familial restrictive cardiomyopathy is a genetic form of heart disease, in which the heart muscle is stiff and cannot fully relax after each contraction. Impaired muscle relaxation causes blood to back up in the atria and lungs, which reduces the amount of blood in the ventricles." "" + "familial cutaneous collagenoma" "Familial cutaneous collagenoma is a connective tissue nevus characterized by multiple, flesh-colored asymptomatic nodules distributed symmetrically on the trunk and upper arms (mainly on the upper two-thirds of the back), manifesting around adolescence. The skin biopsy reveals an accumulation of collagen fibers with reduction in the number of elastic fibers. Cardiac anomalies may be observed. Familial cutaneous collagenoma follows an autosomal dominant mode of transmission." "" + "hereditary hypercarotenemia and vitamin A deficiency" "Hereditary hypercarotenemia and vitamin A deficiency is an extremely rare metabolic disorder characterized clinically by skin discoloration, elevated levels of carotene and low levels of vitamin A described in fewer than 5 patients to date." "" + "disorder of other vitamins and cofactors metabolism and transport" "" + "paragangliomas 4" "Any paraganglioma in which the cause of the disease is a mutation in the SDHB gene." "" + "hereditary pheochromocytoma-paraganglioma" "Hereditary paraganglioma-pheochromocytomas (PGL/PCC) are rare neuroendocrine tumors represented by paragangliomas (occurring in any paraganglia from the skull base to the pelvic floor) and pheochromocytomas (adrenal medullary paragangliomas)." "" + "carpal displacement" "" + "carpal tunnel syndrome" "Entrapment of the median nerve in the wrist that is characterized by numbness, tingling and painful movement." "" + "cat-eye syndrome" "Cat eye syndrome (CES) is a rare chromosomal disorder with a highly variable clinical presentation. Most patients have multiple malformations affecting the eyes (iris coloboma), ears (preauricular pits and/or tags), anal region (anal atresia), heart and kidneys. Intellectual disability is usually mild or borderline normal." "" + "complex chromosomal rearrangement" "True" + "cataract-aberrant oral frenula-growth delay syndrome" "Cataract-aberrant oral frenula-growth delay syndrome is characterized by cataracts and short stature associated with variable anomalies, including aberrant oral frenula, a characteristic facial appearance (posteriorly angulated ears, upslanting palpebral fissures, small nose, ptosis and epicanthal folds) cavernous hemangiomas and hernias. It has been described in a mother and her two children. It is transmitted as an autosomal dominant trait." "" + "autosomal dominant cataract" "A syndromic cataract that has autosomal dominant inheritance." "" + "cataract 32 multiple types" "A cataract that has material basis in mutation in the region 14q22-q23." "" + "early-onset non-syndromic cataract" "Early-onset non-syndromic cataract is a rare, genetic, non-syndromic developmental defect of the eye, with high clinical and genetic heterogeneity, most frequently characterized by bilateral, symmetrical, non-progressive cataracts which present at birth or in early-childhood. Additional ocular manifestations (e.g. anterior segment dysgenesis, colobomas, nystagmus, microcornea, microphthalmia, myopia) may be associated, however other organs/systems are usually not affected." "" + "cataract 7" "A cataract that has material basis in variation in the region 17q24." "" + "cerulean cataract" "Cerulean cataract is a type of hereditary congenital cataract distinguished by bluish and white opacifications in the superficial layers of the fetal lens nucleus and adult lens nucleus and characterized by reduced visual acuity in childhood, eventually necessitating extraction of the lens." "" + "cataract 8 multiple types" "A cataract that has material basis in variation in the region 1pter-p36.13." "" + "cataract 4 multiple types" "Any cataract (disease) in which the cause of the disease is a mutation in the CRYGD gene." "" + "cataract - microcornea syndrome" "Cataract-microcornea syndrome is characterized by the association of congenital cataract and microcornea without any other systemic anomaly or dysmorphism." "" + "cataract 29" "A cataract that has material basis in variation in the region 2pter-p24." "" + "coralliform cataract" "" + "cataract 42" "Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CRYBA2 gene." "" + "cataract 20 multiple types" "Any cataract (disease) in which the cause of the disease is a mutation in the CRYGS gene." "" + "cataract 1 multiple types" "Any cataract (disease) in which the cause of the disease is a mutation in the GJA8 gene." "" + "cataract 30" "A cataract that has material basis in heterozygous mutation in the VIM gene on chromosome 10p13." "" + "early-onset partial cataract" "" + "cataract 41" "Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the WFS1 gene." "" + "early-onset nuclear cataract" "" + "cataract 6 multiple types" "Any cataract (disease) in which the cause of the disease is a mutation in the EPHA2 gene." "" + "cataract 13 with adult I phenotype" "A cataract that has material basis in homozygous or compound heterozygous mutation in the GCNT2 gene on chromosome 6p24." "" + "cataract 5 multiple types" "Any cataract (disease) in which the cause of the disease is a mutation in the HSF4 gene." "" + "obsolete familial cerebral cavernous malformation" "" "true" + "obsolete celiac artery stenosis from compression by median arcuate ligament of diaphragm" "" "true" + "leukocyte adhesion deficiency 1" "Leukocyte adhesion deficiency type I (LAD-I) is a form of LAD characterized by life-threatening, recurrent bacterial infections." "" + "leukocyte adhesion deficiency" "Leukocyte adhesion deficiency (LAD) is a primary immunodeficiency characterized by defects in the leukocyte adhesion process, marked leukocytosis and recurrent infections." "" + "central core myopathy" "An autosomal dominant congenital disorder affecting the skeletal muscles. Microscopically, it is characterized by disorganized areas, which are called cores, seen usually in the center of the muscle fibers. Clinically it presents as mild to severe muscle weakness. It may be associated with skeletal abnormalities including scoliosis, joint deformities, and hip dislocation." "" + "congenital myopathy with cores" "" + "myofibrillar myopathy" "Myofibrillar myopathy (MFM) describes a group of skeletal and cardiac muscle disorders, defined by the disintegration of myofibrils and aggregation of degradation products into intracellular inclusions, and is typically clinically characterized by slowly-progressive muscle weakness, which initially involves the distal muscles, but is highly variable and that can affect the proximal muscles as well as the cardiac and respiratory muscles in some patients." "" + "RYR1-related myopathy" "" + "TPM2-related myopathy" "A congenital myopathy of the musculoskeletal system that covers a wide spectrum of phenotypes and is caused by pathogenic variants in the skeletal muscle beta-Tropomyosin gene. These variants lead to a variety of overlapping adult onset and congenital myopathies characterized by muscle weakness, amyotrophy, hypotonia, myopathic facies, scoliosis, and sometimes contractures among other phenotypes. Histologic findings on skeletal muscle biopsy are variable with nemaline and intranuclear bodies, cap-like lesions, core-like lesions, fiber-type disproportion, and dystrophic features all observed to some degree." "" + "childhood epilepsy with centrotemporal spikes" "A childhood-onset epilepsy syndrom that is characterized by onset of seizures between 3 and 14 years (peak 8-9 years) that usually resolve by age 13 years, but can occasionally occur up to age 18 years of age. Both sexes are affected. Antecedent, birth and neonatal history is normal. A history of febrile seizure (in 5-15%) may be seen. A history of Panayiotopoulos syndrome may be present in a very small number of cases. Neurological exam and head size is normal. Development and cognition prior to onset of seizures is normal. During the course of the active epilepsy, behavioral and neuropsychological deficits may be found, particularly in language and executive functioning. These deficits improve when seizures remit." "" + "Landau-Kleffner syndrome" "Landau-Kleffner syndrome (LKS) is a rare neurological syndrome characterized by the sudden or gradual development of aphasia (the inability to understand or express language) and recurrent seizures (epilepsy). Children with LKS typically develop normally until signs and symptoms of the syndrome begin to develop between age 2 and 8 years. Males are more often affected by LKS than females. In about 20% of people with LKS, mutations (changes) in the GRIN2A gene have been identified. The syndrome is inherited in an autosomal dominant manner. In other cases, the syndrome may be caused by changes to other unidentified genes. LKS is diagnosed when a doctor sees clinical features that are consistent with the syndrome such as a loss of speech and an electroencephalogram (EEG) that shows specific kinds of seizure activity. Genetic testing can be used to confirm if there is a mutation in GRIN2A, but this testing is not done routinely. Treatment for LKS usually consists of medications such as anticonvulsants and corticosteroids to help prevent seizures. Speech therapy should also be started promptly in order to ensure the best long-term outlook for children with LKS." "" + "spinocerebellar ataxia type 31" "Spinocerebellar ataxia type 31 (SCA31) is a very rare subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by the late-onset of cerebral ataxia, dysarthria and horizontal gaze nystagmus, and that is occasionally accompanied by pyramidal signs, tremor, decreased vibration sense and hearing difficulties." "" + "autosomal dominant cerebellar ataxia type III" "Autosomal dominant cerebellar ataxia (ACDA) type III is a group of neurodegenerative disorders characterized by mostly pure cerebellar syndromes with occasional non-cerebellar signs (e.g. pyramidal signs, peripheral neuropathy, writer's cramp) and includes spinocerebellar ataxia (SCA) type 5 (SCA5), SCA6, SCA11, SCA26, SCA30, and SCA31." "" + "ADan amyloidosis" "A cerebral amyloid angiopathy characterized by ataxia, intention tremor, psychosis and dementia that has material basis in an autosomal dominant mutation of ITM2B on chromosome 13q14.2." "" + "ITM2B amyloidosis" "" + "spinocerebellar ataxia type 29" "Spinocerebellar ataxia type 29 (SCA29) is a rare subtype of autosomal dominant cerebellar ataxia type I (ADCA type I) characterized by very slowly progressive or non-progressive ataxia, dysarthria, oculomotor abnormalities and intellectual disability." "" + "Sotos syndrome 1" "Any Sotos syndrome in which the cause of the disease is a mutation in the NSD1 gene." "" + "Sotos syndrome" "Sotos syndrome is a rare multisystemic genetic disorder characterized by a typical facial appearance, overgrowth of the body in early life with macrocephaly, and mild to severe intellectual disability." "" + "cerebral sarcoma" "A sarcoma involving a telencephalon." "" + "cerebrocostomandibular syndrome" "Cerebro-costo-mandibular syndrome (CCMS) is characterized at birth by posterior rib gaps and orofacial anomalies reminiscent of Pierre Robin syndrome that include palatal defects (short hard palate, absent soft palate, absent uvula), micrognathia and glossoptosis." "" + "cervical hypertrichosis with underlying kyphoscoliosis" "" + "cervical rib disease" "A rib that is attached to a cervical vertebra or enlarged transverse processes." "" + "cervical vertebral Bridge" "" + "cervical vertebral dysplasia" "" + "Klippel-Feil syndrome 1, autosomal dominant" "Any isolated Klippel-Feil syndrome in which the cause of the disease is a mutation in the GDF6 gene." "" + "isolated Klippel-Feil syndrome" "Klippel-Feil Syndrome is characterised by improper segmentation of cervical segments resulting in congenitally fused cervical vertebrae." "" + "Charcot-Marie-Tooth disease type 1B" "A sensorineural peripheral polyneuropathy affecting approximately 1 in 2,500 individuals, and is the most common inherited disorder of the peripheral nervous system. Autosomal dominant, autosomal recessive, and X-linked forms have been recognized." "" + "Charcot-Marie-Tooth disease type 1" "Charcot-Marie-Tooth disease type 1 (CMT1) is a group of autosomal dominant demyelinating peripheral neuropathies characterized by distal weakness and atrophy, sensory loss, foot deformities, and slow nerve conduction velocity." "" + "Charcot-Marie-Tooth disease dominant intermediate D" "Autosomal dominant intermediate Charcot-Marie-Tooth disease type D is a rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both axonal degeneration and demyelination without onion bulbs in nerve biopsies. It presents with usual Charcot-Marie-Tooth disease clinical features of variable severity (progressive muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities). Other findings in some of the families include debilitating neuropathic pain and mild postural/kinetic upper limb tremor." "" + "Charcot-Marie-Tooth disease type 2A1" "Autosomal dominant Charcot-Marie-Tooth disease type 2A1 (CMT2A1) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2A presents with a more prominent muscle weakness in lower than upper limbs and frequent postural tremor." "" + "Charcot-Marie-Tooth disease type 2" "A Charcot-Marie-Tooth disease characterized by abnormalities in the axon of the peripheral nerve cell." "" + "Charcot-Marie-Tooth disease type 1A" "Charcot-Marie-Tooth disease type 1A (CMT1A) is a type ofinherited neurological disorder that affects the peripheral nerves. Affected individuals experience weakness and wasting (atrophy) of the muscles of the lower legs beginning in adolescence; later they experience hand weakness and sensory loss. CMT1A is caused byhaving an extra copy (a duplication) of the PMP22 gene. It is inherited in an autosomal dominant manner. Treatment for this condition may include physical therapy ; occupational therapy ; braces and other orthopedic devices; orthopedic surgery;and pain medications." "" + "partial duplication of the short arm of chromosome 17" "" + "Charcot-Marie-Tooth disease, Guadalajara neuronal type" "" + "Charcot-Marie-Tooth disease type 1E" "A rare subtype of CMT1 characterized by a variable clinical presentation. Onset within the first two years of life with a delay in walking is not uncommon; however, onset may occur later. CMT1E is caused by point mutations in the PMP22 (17p12) gene. The disease severity depends on the particular PMP22 mutation, with some cases being very mild and even resembling hereditary neuropathy with liability to pressure palsies, while others having an earlier onset with a more severe phenotype (reminiscent of Dejerine-Sottas syndrome) than that seen in CMT1A, caused by gene duplication. These severe cases may also report deafness and much slower motor nerve conduction velocities compared to CMT1A patients." "" + "Charcot-Marie-Tooth disease with ptosis and parkinsonism" "" + "cheilitis glandularis" "Cheilitis glandularis (CG) is an uncommon chronic inflammatory disease of unknown origin characterized by macrocheilia and secretions of thick saliva from swollen labial minor salivary glands." "" + "chemodectoma, intraabdominal, with cutaneous angiolipomas" "" + "cherubism" "Cherubism is a rare, self-limiting, fibro-osseous, genetic disease of childhood and adolescence characterized by varying degrees of progressive bilateral enlargement of the mandible and/or maxilla, with clinical repercussions in severe cases." "" + "autoinflammatory syndrome with immune deficiency" "True" + "Chiari malformation type I" "Arnold-Chiari malformation type I is a central nervous system malformation characterized by caudal displacement of the cerebellar tonsils exceeding 5mm below the foramen magnum with or without syringomyelia. Symptoms vary in onset and severity and include suboccipital headache, neck pain, vertigo, tinnitus, ocular symptoms (diplopia, blurred vision, photofobia, nystagmus), lower cranial nerve signs, cerebellar ataxia, and spasticity. Some affected individuals can be asymptomatic." "" + "neural tube defect" "A congenital defect characterized by failure of the neural tube to close completely; this results in the presence of openings in the brain or spinal cord. Examples of neural tube defects include encephalocele and spina bifida." "" + "chlorpropamide-alcohol flushing" "True" + "Alagille syndrome" "Alagille (AGS) syndrome is variably characterized by chronic cholestasis due to paucity of intrahepatic bile ducts, peripheral pulmonary artery stenosis, vertebrae segmentation anomalies, characteristic facies, posterior embryotoxon/anterior segment abnormalities, pigmentary retinopathy, and dysplastic kidneys." "" + "syndromic visceral malformation" "" + "chondrocalcinosis 2" "A chronic inherited arthropathy characterized by chondrocalcinosis (CC; i.e. cartilage calcification), often associated with recurrent acute calcium pyrophosphate (CPP) crystal arthritis and polyarticular osteoarthritis (OA)." "" + "chondrocalcinosis due to apatite crystal deposition" "" + "autosomal dominant chondrodysplasia punctata" "Autosomal dominant form of chondrodysplasia punctata." "" + "chondrodysplasia punctata" "A rare congenital developmental disorder characterized by the presence of stippled foci of calcification in the hyaline cartilage, joint contractions, mental retardation and ichthyosis." "" + "non-rhizomelic chondrodysplasia punctata" "Nonrhizomelic chondrodysplasia punctata is a form of chondrodysplasia punctata, a group of diseases in which the common characteristic is bone calcifications near joints from birth. Nonrhizomelic chondrodysplasia punctata is not an entity in itself but covers several diseases with variable clinical findings and modes of transmission." "" + "chondrodysplasia punctata, tibial-metacarpal type" "" + "Chondronectin" "" + "obsolete chorea" "" "true" + "choreoathetosis, familial inverted" "" + "obsolete paroxysmal nonkinesigenic dyskinesia 1" "" "true" + "chylomicronemia, familial, due to circulating inhibitor of lipoprotein lipase" "" + "familial chylomicronemia syndrome" "" + "choroidal osteoma, bilateral" "" + "congenital pseudoarthrosis of clavicle" "Congenital pseudoarthrosis of the clavicle is a rare benign condition, characterized by a painless mass or swelling over the clavicle." "" + "cleft chin" "True" + "split-hand/foot malformation with long bone deficiency 1" "" + "tibial aplasia-ectrodactyly syndrome" "Tibial aplasia-ectrodactyly syndrome is a rare condition characterized by congenital ectrodactylous limb malformations associated with tibial aplasia or hypoplasia." "" + "van der Woude syndrome 1" "Any van der Woude syndrome in which the cause of the disease is a mutation in the IRF6 gene." "" + "van der Woude syndrome" "Van der Woude syndrome (VWS) is a rare congenital genetic dysmorphic syndrome characterized by paramedian lower-lip fistulae, cleft lip with or without cleft palate, or isolated cleft palate." "" + "autosomal dominant popliteal pterygium syndrome" "Autosomal dominant popliteal pterygium syndrome (AD-PPS) is a rare genetic malformative disorder characterized by cleft lip, with or without cleft palate, contractures of the lower extremities, abnormal external genitalia, syndactyly of fingers and/or toes, and a pyramidal skin fold over the hallux nail." "" + "popliteal pterygium syndrome" "A rare, autosomal dominant inherited syndrome caused by mutations in the IRF6 gene. It is characterized by the presence of cleft palate, cleft lip, pits in the lower lip, web behind the knee (popliteal pterygium), syndactyly, cryptorchidism, scrotal malformation, and hypoplasia of the labia majora." "" + "intellectual disability, autosomal dominant" "" + "orofacial cleft 1" "Cleft lip with or without cleft palate mapped to chromosome 6p24." "" + "isolated cleft palate" "A cleft palate that is not part of a larger syndrome." "" + "cleft palate" "Cleft palate is a fissure type embryopathy that affects the soft and hard palate to varying degrees." "" + "cleft palate-lateral synechia syndrome" "Cleft palate-lateral synechia syndrome (CPLS) is a congenital malformation syndrome characterized by the association of cleft palate and intra-oral lateral synechiae connecting the free borders of the palate and the floor of the mouth. CPLS is presumed to be inherited in an autosomal dominant manner." "" + "cleft soft palate" "Cleft velum is a fissure type embryopathy that affects in varying degrees the soft palate." "" + "blepharocheilodontic syndrome" "An ectodermal dysplasia syndrome characterized by the association of abnormalities of the eyelids, lips, and teeth." "" + "congenital ectropion" "" + "cleidocranial dysplasia" "Cleidocranial dysplasia (CCD) is a condition that primarily affects the development of the bones and teeth. Characteristic features include underdeveloped or absent collarbones (clavicles); dental abnormalities; and delayed closing of the spaces between the skull bones (fontanels). Other features may include decreased bone density (osteopenia), osteoporosis, hearing loss, bone abnormalities of the hands, and recurrent sinus and ear infections. CCD is caused by changes (mutations) in the RUNX2 gene and inheritance is autosomal dominant. It may be inherited from an affected parent or occur due to a new mutation in the RUNX2 gene. Management may include dental procedures, treatment of sinus and ear infections, use of helmets for high-risk activities, and/or surgery for skeletal problems." "" + "cranial malformation" "" + "cleidorhizomelic syndrome" "Cleidorhizomelic syndrome is a rhizo-mesomelic dysplasia characterized by rhizomelic short stature/dwarfism in combination with lateral clavicular defects. Additional manifestations include brachydactyly with bilateral clinodactyly and hypoplastic middle phalanx of the fifth digit. X-ray demonstrated an apparent Y-shaped or bifid distal clavicle. Cleidorhizomelic syndrome has been reported in one family (mother and son) and is suspected to be transmitted in an autosomal dominant manner. There have been no further descriptions in the literature since 1988." "" + "mesomelic and rhizo-mesomelic dysplasia" "" + "clubfoot" "The most common congenital deformation of the foot, occurring in 1 of 1,000 live births. The most common form is talipes equinovarus, where the deformed foot is turned downward and inward sharply." "" + "familial clubfoot with or without associated lower limb anomalies" "Familial clubfoot with or without associated lower limb anomalies is a rare congenital limb malformation syndrome characterized by malalignment of the bones and joints of the foot and ankle, with presence of forefoot and midfoot adductus, hindfoot varus, and ankle equinus, presenting as rigid inward turning of the foot towards the midline, in various members of a single family. Hypoplasia of lower leg muscles is a frequently associated finding. Patients may present with other low-limb malformations, such as patellar hypoplasia, oblique talus, tibial hemimelia, and polydactyly." "" + "isolated congenital digital clubbing" "Isolated congenital digital clubbing is a rare genodermatosis disorder characterized by enlargement of the terminal segments of fingers and toes with thickened nails without any other abnormality." "" + "joint formation defects" "" + "inherited isolated nail anomaly" "A nail anomaly that is not part of a larger syndrome." "" + "cluster headache, familial" "An instance of cluster headache syndrome that is caused by an inherited modification of the individual's genome." "" + "cluster headache syndrome" "A headache disorder that is characterized by periodic severe, unilateral orbital, supraorbital, and/or temporal pain, and is associated with ipsilateral cranial autonomic symptoms." "" + "aorta coarctation" "Congenital narrowing of a segment of the aorta. Signs and symptoms include hypertension, muscle weakness, shortness of breath, headaches and leg cramps." "" + "cochleosaccular degeneration-cataract syndrome" "Cochleosaccular degeneration-cataract syndrome is characterised by progressive sensorineural hearing loss due to severe cochleosaccular degeneration and cataract. So far, it has been reported in two families. Transmission is autosomal dominant." "" + "obsolete Coxsackievirus B3 susceptibility" "" "true" + "obsolete colchicine resistance" "" "true" + "familial cold autoinflammatory syndrome 1" "Any familial cold autoinflammatory syndrome in which the cause of the disease is a mutation in the NLRP3 gene." "" + "familial cold autoinflammatory syndrome" "Familial cold urticaria (FCAS) is the mildest form of cryopyrin-associated periodic syndrome (CAPS) and is characterized by recurrent episodes of urticaria-like skin rash triggered by exposure to cold associated with low-grade fever, general malaise, eye redness and arthralgia/myalgia." "" + "coloboma, ocular, autosomal dominant" "" + "coloboma of macula" "Coloboma of macula is a rare, non-syndromic developmental defect of the eye characterized by well-circumscribed, oval or rounded, usually unilateral, atrophic lesions of varying size presenting rudimentary or absent retina, choroid and sclera located at the macula leading to decreased vision and, on occasion, other symptoms (e.g. strabismus). It is usually isolated, but may also be associated with Down syndrome, skeletal or renal disorders." "" + "renal coloboma syndrome" "Renal coloboma syndrome (RCS) is a genetic condition characterized by optic nerve dysplasia and renal hypodysplasia." "" + "syndromic developmental defect of the eye" "A developmental defect of the eye that is part of a larger syndrome." "True" + "coloboma of macula-brachydactyly type B syndrome" "Coloboma of macula - brachydactyly type B or Sorsby syndrome is a malformation syndrome characterized by the combination of bilateral coloboma of macula with horizontal pendular nystagmus and severe visual loss, and brachydactyly type B. The hand and feet defects comprise shortening of the middle and terminal phalanges of the second to fifth digits, hypoplastic or absent nails (congenital anonychia), broad or bifid thumbs and halluces, syndactyly and flexion deformities of the joints of some digits. Coloboma of macula - brachydactyly type B is inherited in a dominant manner." "" + "coloboma of optic nerve" "" + "uveal coloboma-cleft lip and palate-intellectual disability" "Uveal coloboma-cleft lip and palate-intellectual disability is characterised by coloboma of the iris, bilateral cleft lip and palate, and intellectual deficiency of varying degree. A wide variability in clinical expression is observed. Some patients also present with microphthalmia, cataract, glaucoma, ptosis, sensorineural hearing loss and haematuria. To date, 12 cases have been described from three generations of a single family. Transmission is autosomal dominant." "" + "Lynch syndrome 1" "Any Lynch syndrome in which the cause of the disease is a mutation in the MSH2 gene." "" + "colonic varices without portal hypertension" "" + "comedones, familial Dyskeratotic" "" + "commissural lip pits" "" + "branchiootic syndrome 2" "" + "branchiootic syndrome" "Branchiootic syndrome is a rare, genetic multiple congenital anomalies syndrome characterized by second branchial arch anomalies (branchial cysts and fistulae), malformations of the outer, middle and inner ear associated with sensorineural, mixed or conductive hearing loss, and the absence of renal abnormalities. Typical ear findings consist of malformed auricles (e.g. lop or cupped ears), preauricular pits and/or tags, and middle and/or inner ear dysplasias (inculding cochlear, vestibular and semicircular channel hypoplasia, malformation of the ossicles and of middle ear space)." "" + "C1 inhibitor deficiency" "" + "serpinopathy" "" + "cone-rod dystrophy 2" "Any cone-rod dystrophy in which the cause of the disease is a mutation in the CRX gene." "" + "cone-rod dystrophy" "Inherited retinal dystrophies that belong to the group of pigmentary retinopathies." "" + "congenital contractural arachnodactyly" "Congenital contractural arachnodactyly (CCA, Beals syndrome) is a connective tissue disorder characterized by multiple flexion contractures, arachnodactyly, severe kyphoscoliosis, abnormal pinnae and muscular hypoplasia." "" + "arthrogryposis" "A rare, non-progressive congenital disorder characterized by multiple joint contractures which are present at birth." "" + "Marfan and Marfan-related disorder" "" + "arthrogryposis, distal, type 2E" "" + "seizures, benign familial neonatal, 1" "Any benign neonatal seizures in which the cause of the disease is a mutation in the KCNQ2 gene." "" + "benign neonatal seizures" "A rare genetic epilepsy syndrome characterized by the occurrence of afebrile seizures in otherwise healthy newborns with onset in the first few days of life." "" + "seizures, benign familial neonatal, 2" "Any benign neonatal seizures in which the cause of the disease is a mutation in the KCNQ3 gene." "" + "febrile seizures, familial, 1" "" + "familial benign copper deficiency" "Familial benign copper deficiency is a rare disorder of mineral absorption and transport characterized by hypocupremia that manifests as failure to thrive, mild anemia, repeated seizures, hypotonia, and seborrheic skin. Spurring of the femur and tibia are also noted on radiographic imaging. Symptoms are reversible or improve with supplements of oral copper. There have been no further descriptions in the literature since 1982." "" + "disorder of copper metabolism" "An acquired metabolic disease that is has its basis in the disruption of cellular copper ion homeostasis." "" + "hereditary coproporphyria" "Hereditary coproporphyria is a form of acute hepatic porphyria characterized by the occurrence of neuro-visceral attacks and, more rarely, by the presence of cutaneous lesions." "" + "coracoclavicular joint, anomalous" "" + "cornea guttata with anterior polar cataracts" "" + "cornea plana 1, autosomal dominant" "" + "congenital cornea plana" "" + "corneal degeneration, ribbonlike, with deafness" "" + "Schnyder corneal dystrophy" "Schnyder corneal dystrophy (SCD) is a rare form of stromal corneal dystrophy characterized by corneal clouding or crystals within the corneal stroma, and a progressive decrease in visual acuity." "" + "epithelial basement membrane dystrophy" "" + "superficial corneal dystrophy" "The superficial corneal dystrophies refer to a group of rare genetically determined corneal dystrophies (CDs) characterized by lesions affecting the corneal epithelium and its basement membrane and the superficial corneal stroma, and variable effects on vision depending on the type of dystrophy." "" + "fleck corneal dystrophy" "Fleck corneal dystrophy (FCD) is a rare generally asymptomatic form of stromal corneal dystrophy characterized by multiple asymptomatic, non-progressive opacities disseminated throughout the corneal stroma with no effect on visual acuity." "" + "granular corneal dystrophy type I" "Type I granular corneal dystrophy (GCDI) is a rare form of stromal corneal dystrophy characterized by multiple small deposits in the superficial central corneal stroma, and progressive visual impairment, which may sometimes be severe." "" + "posterior polymorphous corneal dystrophy 1" "A posterior polymorphous corneal dystrophy that has material basis in autosomal dominant inheritance of mutation in the OVOL2 gene on chromosome 20p11.23." "" + "posterior polymorphous corneal dystrophy" "Posterior polymorphous corneal dystrophy (PPCD) is a rare mild subtype of posterior corneal dystrophy characterized by small aggregates of apparent vesicles bordered by a gray haze at the level of Descemet membrane, generally with no effect on vision." "" + "Meesmann corneal dystrophy" "Meesmann corneal dystrophy (MECD) is a rare form of superficial corneal dystrophy characterized by distinct tiny bubble-like, round-to-oval punctate bilateral opacities in the central corneal epithelium, and to a lesser extent in the peripheral cornea, with little impact on vision." "" + "lattice corneal dystrophy type I" "Type I lattice corneal dystrophy (LCDI) is a frequent form of stromal corneal dystrophy characterized by a network of delicate interdigitating branching filamentous opacities within the cornea with progressive visual impairment and no systemic manifestations." "" + "epithelial recurrent erosion dystrophy" "Epithelial recurrent erosion dystrophy (ERED) is a rare form of superficial corneal dystrophy characterized by recurrent episodes of epithelial erosions from childhood in the absence of associated diseases, with occasional impairment of vision." "" + "Ramos-Arroyo syndrome" "Ramos-Arroyo syndrome (RAS) is a very rare genetic disorder characterized by corneal anesthesia, retinal abnormalities, bilateral hearing loss, distinct facies, patent ductus arteriosus, Hirschsprung disease, short stature, and intellectual disability." "" + "Stern-Lubinsky-Durrie syndrome" "Stern-Lubinsky-Durrie syndrome is characterised by corneal epithelial changes (associated with photophobia and burning and watering of the eyes), diffuse palmoplantar hyperkeratosis, distal onycholysis, brachydactyly, short stature, dental problems, and premature birth. It has been described in seven individuals from three generations of one family. It is transmitted as an autosomal dominant trait." "" + "congenital trigeminal anesthesia" "Congenital trigeminal anesthesia is a rare neuro-ophtalmological disorder characterized by a congenital sensory deficit involving all or some of the sensory components of the trigeminal nerve. Due to corneal anesthesia, it usually presents with recurrent, painless eye infections, painless corneal opacities and/or poorly healing, ulcerated wounds on the facial skin and mucosa (typically the buccal mucosa and/or nasal septum)." "" + "idiopathic spontaneous coronary artery dissection" "" + "non-inflammatory vasculopathy" "" + "obsolete human coronavirus sensitivity" "" "true" + "Cornelia de Lange syndrome 1" "Any Cornelia de Lange syndrome in which the cause of the disease is a mutation in the NIPBL gene." "" + "Cornelia de Lange syndrome" "A rare syndrome characterized by low birth weight, delayed growth, intellectual disabillity, behavioral problems, and a distinctive facial appearance (thin, arched eyebrows, low set ears, small teeth, and small nose). The majority of cases are caused by mutations in the NIPBL gene. Less severe forms of the syndrome are caused by mutations in the SMC1A and SMC3 genes." "" + "congenitally short costocoracoid ligament" "Congenital shortness of the costocoracoid ligament is a rare anomaly characterized by fixation of the scapula to the first rib, resulting in a cosmetic deformity with rounding of the shoulders and loss of the anterior clavicular contour." "" + "spondylocostal dysostosis 5" "Any spondylocostal dysostosis in which the cause of the disease is a mutation in the TBX6 gene." "" + "coumarin resistance" "" + "coxa vara" "Hip deformity in which the femoral neck leans forward resulting in a decrease in the angle between femoral neck and its shaft. It may be congenital often syndromic, acquired, or developmental." "" + "coxoauricular syndrome" "Coxoauricular syndrome is an extremely rare primary bone defect, described only in a mother and her three daughters to date, characterized by short stature, hip dislocation, minor vertebral and pelvic changes, and microtia with hearing loss. There have been no further descriptions in the literature since 1981." "" + "cranioacrofacial syndrome" "" + "obsolete craniodiaphyseal dysplasia" "" "true" + "craniofacial-deafness-hand syndrome" "Craniofacial-deafness-hand syndrome (CDHS) is an autosomal dominant disorder, described in one family to date, characterized by characteristic facial features (flat facial profile with normal calvarium, hypertelorism, small downslanting palpebral fissures, hypoplastic nose with button tip and slitlike nares, small ''pursed'' mouth), profound sensorineural deafness, and ulnar deviations and contractures of the hand. CDHS is thought to be an allelic variant of Waardenburg syndrome that can be distinguished from the latter by its imaging findings and distinct facial features." "" + "dysostosis, Stanescu type" "Stanescu type dysostosis is a rare form of osteosclerosis." "" + "craniometaphyseal dysplasia, autosomal dominant" "" + "craniometaphyseal dysplasia" "Craniometaphyseal dysplasia (CMD) is a very rare genetic bone disease characterized by progressive diffuse hyperostosis of cranial bones causing facial dysmorphism and functional repercussions, and metaphyseal widening of long bones." "" + "craniorhiny" "" + "TWIST1-related craniosynostosis" "Any craniosynostosis in which the cause of the disease is a mutation in the TWIST1 gene." "" + "isolated scaphocephaly" "Isolated scaphocephaly is a form of nonsyndromic craniosynostosis characterized by premature fusion of the sagittal suture." "" + "isolated plagiocephaly" "Isolated synostotic plagiocephaly (SP) is a form of nonsyndromic craniosynostosis characterized by premature fusion of one coronal suture leading to skull deformity and facial asymmetry." "" + "isolated brachycephaly" "Isolated brachycephaly is a relatively frequent nonsyndromic craniosynostosis consisting of premature fusion of both coronal sutures leading to skull deformity with a broad flat forehead and palpable coronal ridges." "" + "isolated oxycephaly" "Isolated oxycephaly is a late-appearing form of nonsyndromic craniosynostosis characterized by premature fusion of both the coronal and sagittal sutures, and, in some cases, of the lambdoid sutures. Compensatory growth in the region of the anterior fontanel results in a pointed or cone-shaped skull." "" + "Jackson-Weiss syndrome" "Jackson-Weiss syndrome (JWS) is a rare genetic disorder characterized by foot malformations (tarsal and metatarsal fusions; short, broad, medially deviated great toes) and in some patients craniosynostosis with facial anomalies. Hands are normal in affected patients." "" + "craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome" "Craniosynostosis, Dandy-Walker malformation and hydrocephalus is a malformation disorder characterized by sagittal craniosynostosis, Dandy-Walker malformation, hydrocephalus, craniofacial dysmorphism (including dolichocephaly, hypertelorism, micrognathia, positional ear deformity) and variable developmental delay. The inheritance pattern appears to be autosomal dominant." "" + "familial scaphocephaly syndrome" "" + "syndrome with a Dandy-Walker malformation as major feature" "True" + "creatine phosphokinase, elevated serum" "" + "inherited Creutzfeldt-Jakob disease" "Inherited or familial Creutzfeldt-Jakob disease (fCJD) is a very rare form of genetic prion disease characterized by typical CJD features (rapidly progressive dementia, personality/behavioral changes, psychiatric disorders, myoclonus, and ataxia) with a genetic cause and sometimes a family history of dementia." "" + "inherited prion disease" "An instance of prion disease that is caused by an inherited modification of the individual's genome." "" + "miscellaneous movement disorder due to genetic neurodegenerative disease" "True" + "Cri-du-chat syndrome" "Monosomy 5p, also known as Cri du chat syndrome, is a rare autosomal deletion syndrome characterized by a mewing cry (cri du chat) in infancy, multiple congenital anomalies, intellectual disability, microcephaly, and facial dysmorphism." "" + "partial deletion of the short arm of chromosome 5" "" + "syndromic epicanthus" "" + "chromosomal anomaly with cataract" "True" + "Crouzon syndrome" "Crouzon disease is characterized by craniosynostosis and facial hypoplasia." "" + "syndromic craniosynostosis" "A craniosynostosis that is part of a larger syndrome." "" + "cryofibrinogenemia, familial primary" "" + "cryofibrinogenemia" "" + "Cryoglobulinemic vasculitis" "Mixed cryoglobulinemia (MC) is a rare multisystem disease characterized by the presence of circulating cryoprecipitable immune complexes in the serum, manifested clinically by a classical triad of purpura, weakness and arthralgia." "" + "immune complex mediated vasculitis" "" + "cryptotia, familial" "" + "cryptomicrotia-brachydactyly-excess fingertip arch syndrome" "Cryptomicrotia - brachydactyly - excess fingertip arch syndrome describes a combination of malformations that include bilateral cryptomicrotia, brachytelomesophalangy with short middle and distal phalanges of digits 2 through 5, hypoplastic toenails and excess fingertip arch patterns, and has been reported in one family (mother and son). Cryptomicrotia - brachydactyly - excess fingertip arch syndrome is thought to follow an autosomal dominant transmission. There have been no further descriptions in the literature since 1988." "" + "isolated cryptophthalmia" "Isolated cryptophtalmia is a congenital abnormality in which the eyelids are absent and skin covers the ocular bulb, which is often microphthalmic. Six cases of complete bilateral crytophthalmia have been described. Transmission is autosomal dominant." "" + "cryptophthalmia" "A congenital abnormality characterized by the presence of a continuous layer of skin extending over the eyeballs and the absence of eyelids and the palpebral fissure." "" + "cutis laxa, autosomal dominant 1" "Any autosomal dominant cutis laxa in which the cause of the disease is a mutation in the ELN gene." "" + "autosomal dominant cutis laxa" "Autosomal dominant cutis laxa (ADCL) is a connective tissue disorder characterized by wrinkled, redundant and sagging inelastic skin associated in some cases with internal organ involvement." "" + "Beare-Stevenson cutis gyrata syndrome" "Cutis Gyrata-Acanthosis nigricans-craniosynthosis also known as Beare-Stevenson syndrome (BSS) is a severe form of syndromic craniosynostosis, characterized by a variable degree of craniosynostosis, with cloverleaf skull reported in over 50% of cases, cutis gyrata, corduroy-like linear striations in the skin, acanthosis nigricans, skin tags, and choanal stenosis or atresia. Additional features include facial features similar to Crouzon disease, ear defects (conductive hearing loss, posteriorly angulated ears, stenotic auditory canals, preauricular furrows, and narrow ear canals), hirsutism, a prominent umbilical stump, and genitorurinary anomalies (anteriorly placed anus, hypoplasic labia, hypospadias). BSS is associated with a poor outcome as patients present an elevated risk for sudden death in their first year of life. Significant developmental delay and intellectual disability are observed in most patients who survive infancy." "" + "Cyprus facial-neuromusculoskeletal syndrome" "Cyprus facial-neuromusculoskeletal syndrome is an exceedingly rare, genetic malformation syndrome characterized by a striking facial appearance, variable skeletal deformities, and neurological defects." "" + "Gorham-Stout disease" "Gorham-Stout disease (GSD) is a rare disease of massive osteolysis associated with proliferation and dilation of lymphatic vessels. GSD may affect any bone in the body and can be monostotic or polyostotic. Symptoms at presentation are dependent upon the location(s) of the disease; the most common symptom is localized pain. The disease may be discovered after a pathological fracture." "" + "congenital vascular bone syndrome" "An alteration in limb growth caused by congenital vascular malformations in childhood" "" + "mitochondrial complex III deficiency nuclear type 1" "Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the BCS1L gene." "" + "mitochondrial complex III deficiency" "Isolated complex III deficiency is a rare, genetic, mitochondrial oxidative phosphorylation disorder characterized by a wide spectrum of clinical manifestations ranging from isolated myopathy or transient hepatopathy to severe multisystem disorder (that may include hypotonia, failure to thrive, psychomotor delay, cardiomyopathy, encephalopathy, renal tubulopathy, hearing impairment, lactic acidosis, hypoglycemia and other signs and symptoms)." "" + "mitochondrial complex III deficiency, nuclear type" "" + "Balkan nephropathy" "A chronic tubulointerstitial nephropathy that affects people in certain rural areas along the Danube river in the Balkans. It leads to end-stage renal disease." "" + "Darier disease" "Darier disease (DD) is a keratinization disorder characterized by the development of keratotic papules in seborrheic areas and specific nail anomalies." "" + "Darwinian tubercle of pinna" "" + "obsolete Darwinian tubercle of pinna" "" "true" + "autosomal dominant deafness - onychodystrophy syndrome" "Dominant deafness-onychodystrophy (DDOD) syndrome is a multiple congenital anomalies syndrome characterized by congenital hearing impairment, small or absent nails on the hands and feet, and small terminal phalanges." "" + "deafness-onychodystrophy syndrome" "Deafness-onychodystrophy syndrome is a group of rare, genetic, developmental defect during embryogenesis disorders characterized by the association of sensorineural deafness and onychodystrophy (e.g. absent/hypoplastic finger and toenails), as well as brachydactyly and finger-like thumbs. Additional features present in one of the diseases comprising this group include osteodystrophy, intellectual disability, seizures, developmental delay, and distinctive facies." "" + "deafness-ear malformation-facial palsy syndrome" "Deafness-ear malformation-facial palsy syndrome is characterized by profound conductive deafness due to stapedial abnormalities associated with variable malformations of the external ears and facial paralysis. It has been described in three sibs and their mother. Inheritance is autosomal dominant." "" + "keratoderma hereditarium mutilans" "" + "autosomal dominant diffuse mutilating palmoplantar keratoderma" "" + "deafness, mid-tone neural" "" + "autosomal dominant nonsyndromic hearing loss 1" "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the DIAPH1 gene." "" + "autosomal dominant nonsyndromic hearing loss" "Autosomal dominant form of nonsyndromic deafness." "" + "deafness, sensorineural, with peripheral neuropathy and arterial disease" "" + "deafness, unilateral" "" + "deafness with anhidrotic ectodermal dysplasia" "" + "deafness-craniofacial syndrome" "Deafness-craniofacial syndrome is characterised by the association of congenital hearing loss and facial dysmorphism (facial asymmetry, a broad nasal root and small nasal alae). It has been described in two members (father and daughter) of one Jewish family. Temporal alopecia was also noted. Transmission appeared to be autosomal dominant." "" + "optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy" "" + "autosomal dominant optic atrophy plus syndrome" "Autosomal dominant optic atrophy plus syndrome (ADOA plus) is a variant of autosomal dominant optic atrophy (ADOA) associating the typical optic atrophy with other extra-ocular manifestations such as sensorineural deafness, myopathy, chronic progressive external ophthalmoplegia, ataxia and peripheral neuropathy. More rarely, other manifestations have been associated with this condition, such as spastic paraplegia, multiple-sclerosis like illness." "" + "dens evaginatus" "" + "dens in dente and palatal invaginations" "" + "leukodystrophy" "Leukodystrophies are a group of rare, progressive, metabolic, genetic diseases that affect the brain, spinal cord and often the peripheral nerves. Each type of leukodystrophy is caused by a specific gene abnormality that leads to abnormal development or destruction of the white matter (myelin sheath) of the brain. The myelin sheath is the protective covering of the nerve and nerves can't function normally without it. Each type of leukodystrophy affects a different part of the myelin sheath, leading to a range of neurological problems." "" + "dementia/parkinsonism with non-Alzheimer amyloid plaques" "" + "primary failure of tooth eruption" "" + "dentatorubral-pallidoluysian atrophy" "Dentatorubral pallidoluysian atrophy (DRPLA) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by involuntary movements, ataxia, epilepsy, mental disorders, cognitive decline and prominent anticipation." "" + "autosomal dominant cerebellar ataxia type IV" "" + "dentin dysplasia type I" "Dentin dysplasia type I (DD-I) is a rare form of dentin dysplasia (DD) characterized by sharp conical short roots or rootless teeth." "" + "dentin dysplasia" "Dentin dysplasia (DD) is a rare disorder belonging to the group of hereditary dentin defects and is characterized by abnormal dentin structure and root development resulting in abnormal tooth development. It encompasses two subtypes: DD type I and DD type II." "" + "dentin dysplasia type II" "Dentin dysplasia type II (DD-II) is a rare mild form of dentin dysplasia (DD) characterized by normal tooth roots but abnormal primary dentition." "" + "dentin dysplasia-sclerotic bones syndrome" "Dentin dysplasia-sclerotic bones syndrome is a rare, genetic odontologic disease characterized by the clinical, radiographic, and histologic features of dentine dysplasia and osteosclerosis of all long bones, with heavy cortical bone and narrowed or occluded marrow spaces. There have been no further descriptions in the literature since 1977." "" + "deoxyribose-5-phosphate aldolase deficiency" "" + "major affective disorder 1" "" + "dentinogenesis imperfecta type 2" "Dentinogenesis imperfecta type 2 (DGI-2) is a rare, severe form of dentinogenesis imperfecta (DGI) and is characterized by weakness and discoloration of all teeth." "" + "dentinogenesis imperfecta" "Dentinogenesis imperfecta (DGI) is a hereditary dentin defect characterized by abnormal dentin structure resulting in abnormal tooth development." "" + "dentinogenesis imperfecta type 3" "Dentinogenesis imperfecta type 3 (DGI-3) is a rare, severe form of dentinogenesis imperfecta (DGI) characterized by opalescent primary and permanent teeth, marked attrition, large pulp chambers, multiple pulp exposure and shell teeth radiographically (i.e. teeth which appear hollow due to dentin hypotrophy)." "" + "congenital unilateral hypoplasia of depressor anguli oris" "Congenital unilateral hypoplasia of depressor anguli oris is a congenital anomaly, characterized by the unilateral hypoplasia/agenesis of the depressor anguli oris muscle, resulting in an asymmetric crying facies in neonatal period/ infancy (drooping of one corner of the mouth during crying) while eye closure, nasolabial fold and forehead wrinkling are symmetric. While it can be isolated, this anomaly is also seen in 22q11.2 deletion syndrome and can be accompanied by other major congenital anomalies of the cardiovascular system, as well as less frequently the musculoskeletal, cervicofacial, respiratory, genitourinary, and, rarely, endocrine systems. When isolated, the condition is cosmetically insignificant as the infant gets older (as the muscle does not contribute significantly to facial expression in childhood/ adulthood)." "" + "22q11.2 deletion syndrome" "22q11.2 deletion syndrome (DS) is a chromosomal anomaly which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency." "" + "dermal Ridges, patternless" "" + "dermatopathia pigmentosa reticularis" "" + "dermatosis papulosa nigra" "A benign skin condition commonly seen in dark-skinned individuals that is characterized by multiple small hyperpigmented papular lesions resembling seborrheic keratosis on the face and upper body." "" + "autosomal dominant vibratory urticaria" "An autosomal dominant disease characterized by localized hives and systemic manifestations in response to dermal vibration, with coincident degranulation of mast cells and increased histamine levels in serum." "" + "familial dermatographia" "Familial dermographism is a condition also known as skin writing. When people who have dermatographia lightly scratch their skin, the scratches redden into a raised wheal similar to hives. Signs and symptoms of dermatographia include raised red lines, swelling, inflammation, hive-like welts and itching. Symptoms usually disappear within 30 minutes. The exact cause of this condition is unknown. Treatment mayinvovle use of antihistamines if symptoms do not go away on their own." "" + "dermo-odonto dysplasia" "Dermo-odonto dysplasia belongs to the group of tricho-odonto-onychial dysplasias. It is characterised by signs of variable severity: dry and thin skin, dental anomalies, nail alteration and trichodysplasia. Fourteen cases have been described so far. Autosomal dominant transmission is likely." "" + "neurohypophyseal diabetes insipidus" "Hereditary central diabetes insipidus is a rare genetic subtype of central diabetes insipidus (CDI) characterized by polyuria and polydipsia due to a deficiency in vasopressin (AVP) synthesis." "" + "central diabetes insipidus" "Central diabetes insipidus (CDI) is a hypothalamus-pituitary disease characterized by polyuria and polydipsia due to a vasopressin (AVP) deficiency. It can be inherited or acquired (hereditary CDI and acquired CDI)." "" + "diabetes insipidus, nephrogenic, autosomal" "" + "nephrogenic diabetes insipidus" "Nephrogenic diabetes insipidus (NDI) is characterized by polyuria with polydipsia, recurrent bouts of fever, constipation, and acute hypernatremic dehydration after birth that may cause neurological sequelae. Polyuria may exceed 10 litres in children." "" + "maturity-onset diabetes of the young type 1" "Monogenic diabetes caused by inactivating mutation(s) in the gene HNF4A, encoding hepatocyte nuclear factor 4-alpha." "" + "maturity-onset diabetes of the young" "MODY (maturity-onset diabetes of the young) is a rare, familial, clinically and genetically heterogeneous form of diabetes characterized by young age of onset (generally 10-45 years of age) with maintenance of endogenous insulin production, lack of pancreatic beta-cell autoimmunity, absence of obesity and insulin resistance and extra-pancreatic manifestations in some subtypes." "" + "maturity-onset diabetes of the young type 2" "Monogenic diabetes caused by inactivating mutation(s) in the GCK gene, encoding glucokinase. Heterozygous GCK mutations may manifest as mild hyperglycemia, which is not progressive, and usually requires no treatment. Homozygous GCK mutations result in permanent neonatal diabetes." "" + "type 1 diabetes mellitus 2" "Any type 1 diabetes mellitus in which the cause of the disease is a mutation in the INS gene." "" + "obsolete diabetes mellitus, noninsulin-dependent" "" "true" + "diarrhea, glucose-stimulated secretory, with common variable immunodeficiency" "" + "diastema, dental medial" "" + "digitotalar dysmorphism; ulnar drift, hereditary" "" + "dilution, pigmentary" "" + "discrimination, Two-point, reduction 1N" "" + "short stature-valvular heart disease-characteristic facies syndrome" "Short stature-valvular heart disease-characteristic facies syndrome is characterised by severe short stature with disproportionately short legs, small hands, clinodactyly, valvular heart disease and dysmorphism (ptosis, high-arched palate, abnormal dentition). It has been described in a mother and two daughters. This syndrome is probably transmitted as an autosomal dominant trait." "" + "multiple sclerosis, susceptibility to" "" + "distal osteosclerosis" "" + "obsolete isolated distichiasis" "Isolated distichiasis is a rare congenital eyelid anomaly characterized by an accessory row of eyelashes (that may be partial or complete) posterior to the normal row of cilia, at or close to the meibomian gland orifices, that is not associated with any other condition, and that may lead to ocular irritation and corneal damage if left untreated." "" "true" + "distichiasis with congenital anomalies of the heart and peripheral vasculature" "" + "DNA, satellite, 3" "" + "DNA, low-repetitive sequences of" "" + "obsolete DNA, satellite, alpha type" "" "true" + "double nail for fifth toe" "" + "calvarial doughnut lesions-bone fragility syndrome" "This syndrome is characterised by multiple doughnut-shaped hyperostotic or osteosclerotic lesions of the calvaria." "" + "primary bone dysplasia with decreased bone density" "True" + "Doyne honeycomb retinal dystrophy" "Doyne honeycomb retinal dystrophy (DHRD) is a condition that affects the eyes and causes vision loss. It is characterized bysmall, round, white spots known as drusen that accumulate beneath the retinal pigment epithelium(the pigmented layer of the retina). Over time, drusen may grow and come together, creating a honeycomb pattern. It usually begins in early to mid adulthood, but the age of onset varies.The degree of vision loss also varies. DHRD is usually caused by mutations in the EFEMP1 gene and is inherited in an autosomal dominant manner." "" + "familial flecked retinopathy" "" + "disease predisposing to age-related macular degeneration" "" + "basal laminar drusen" "A retinal drusen characterized by yellow-white deposits (drusen) that accumulate beneath the retinal pigment epithelium on Bruch membrane and that has material basis in mutations in the CFH gene on chromosome 1q31.3." "" + "Duane retraction syndrome" "Duane retraction syndrome (DRS) is a congenital form of strabismus characterized by horizontal eye movement limitation, globe retraction and palpebral fissure narrowing in attempted adduction. It is caused by a failure of development of the abducens nerve and can lead to amblyopia." "" + "nuclear oculomotor paralysis" "" + "cranial nerve and nuclear aplasia" "" + "duodenal ulcer due to antral G-cell hyperfunction" "" + "duodenal ulcer, hyperpepsinogenemic 1" "" + "familial Dupuytren contracture" "Familial Dupuyren contracture is a rare, genetic, epidermal disease characterized by a, usually unilateral, progressive thickening and shortening of the palmar fascia, leading to permanent flexion contracture of the digits in several members of a family. It most commonly affects the fourth digit, followed by the fifth and then the third (first and second digits are usually spared)." "" + "3-M syndrome" "3M syndrome is a primordial growth disorder characterized by low birth weight, reduced birth length, severe postnatal growth restriction, a spectrum of minor anomalies (including facial dysmorphism) and normal intelligence." "" + "slender bone dysplasia" "" + "autosomal dominant Kenny-Caffey syndrome" "An autosomal dominant form of Kenny-Caffey Syndrome due to mutation(s) in the FAM111A gene, encoding protein FAM111A. This condition is characterized by transient hypocalcemia, delayed closure of the anterior fontanel, eye anomalies, including microphthalmia, proportionate short stature, and cortical thickening and medullary stenosis of the tubular bones." "" + "Kenny-Caffey syndrome" "A genetic condition characterized by long bone sclerosis and thickening, short stature, and head and eye anomalies. Many affected individuals have hypoparathyroidism with hypocalcemia." "" + "dwarfism, Levi type" "" + "dwarfism with stiff joints and ocular abnormalities" "" + "Leri-Weill dyschondrosteosis" "LC)ri-Weill dyschondrosteosis (LWD) is a skeletal dysplasia marked by disproportionate short stature and the characteristic Madelung wrist deformity." "" + "dyschondrosteosis-nephritis syndrome" "Dyschondrosteosis - nephritis is characterized by the association of short stature due to mesomelic shortening of the limbs and Madelung deformity, with hereditary nephritis." "" + "dyschromatosis symmetrica hereditaria" "Acropigmentation of Dohi is a genodermatosis characterised by the presence of hyperpigmented and hypopigmented macules, principally located on the extremities and limbs." "" + "obsolete dyschromatosis universalis" "" "true" + "dyskeratosis congenita, autosomal dominant 1" "A dyskeratosis congenita that has material basis in an autosomal dominant mutation of TERC on chromosome 3q26.2." "" + "dyskeratosis congenita" "Dyskeratosis congenita (DC) is a rare ectodermal dysplasia that often presents with the classic triad of nail dysplasia, skin pigmentary changes, and oral leukoplakia associated with a high risk of bone marrow failure (BMF) and cancer." "" + "hereditary benign intraepithelial dyskeratosis" "A rare genetic disorder with an autosomal dominant pattern of inheritance with variable penetrance. It was initially described among Native Americans belonging to the Haliwa-Saponi tribe of northeastern North Carolina. It is caused by a duplication of chromosomal DNA at 4q35. Clinical signs present in early childhood and include asymptomatic plaques of the epibulbar conjunctivae and oral mucosa. Clinical progression of the plaques to malignancy has not been reported." "" + "dyslexia, susceptibility to, 1" "" + "Lewy body dementia" "A progressive form of dementia characterized by the presence of protein deposits called Lewy bodies in the midbrain and cerebral cortex, and loss of cholinergic and dopaminergic neurons. The signs and symptoms overlap with Alzheimer and Parkinson disease." "" + "dysplasia epiphysealis hemimelica" "Dysplasia epiphysealis hemimelica (DEH), or Trevor's disease, is a rare condition that most commonly affects the epiphysis (the end) of long bones in children. Early diagnosis and treatment are necessary to prevent joint dysfunction and deformity and may be surgical or non-surgical depending on the location and the symptoms. Due to the progressive nature of this disorder and the chance of worsening deformity, patients should be followed until skeletal maturity. The cause of dysplasia epiphysealis hemimelica is not known." "" + "carpotarsal osteochondromatosis" "Carpotarsal osteochondromatosis is a very rare primary bone dysplasia disorder characterized by abnormal bone proliferation and osteochondromas in the upper and lower limbs." "" + "dystelephalangy" "" + "early-onset generalized limb-onset dystonia" "A rare movement disorder characterized by involuntary, repetitive, sustained muscle contractions or postures involving one or more sites of the body." "" + "early-onset generalized dystonia" "" + "torsion dystonia 4" "DYT4 type primary dystonia is characterized by predominantly laryngeal dystonia (manifesting as whispering dysphonia) and cervical dystonia (manifesting as torticollis)." "" + "focal, segmental or multifocal dystonia" "A rare neurologic movement disorder characterized by sustained muscle contractions of a single body region, usually producing twisting and repetitive movements or abnormal postures or positions." "" + "obsolete episodic kinesigenic dyskinesia 1" "" "true" + "dystonia 5" "Autosomal dominant dopa-responsive dystonia (DYT5a) is a rare neurometabolic disorder characterized by childhood-onset dystonia that shows a dramatic and sustained response to low doses of levodopa (L-dopa) and that may be associated with parkinsonism at an older age." "" + "dopa-responsive dystonia" "Dopa-responsive dystonia (DRD) describes a group of neurometabolic disorders characterized by dystonia that typically shows diurnal fluctuations, that responds excellently to levodopa (L-dopa) and that is comprised of autosomal dominant dopa-responsive dystonia (DYT5a), autosomal recessive dopa-responsive dystonia (DYT5b) and dopa responsive dystonia due to sepiapterin reductase (SR) deficiency." "" + "disorder of pterin metabolism" "" + "GTP cyclohydrolase I deficiency" "A disease characterized by a deficiency in GTP cyclohydrolase I, which leads to a consequent reduction in BH4 and reduces the activity of three BH4-cofactor dependent enzymes - phenylalanine hydroxylase, tyrosine hydroxylase, and tryptophan hydroxylase. GTP cyclohydrolase I deficiency encompasses a spectrum of disease that includes autosomal dominant and autosomal recessive forms, with severity correlating with the residual enzyme activity. Individuals who are heterozygous for pathogenic variants in GCH1 have symptoms ranging from none (due to reduced penetrance) to dopa-responsive dystonia, which is the most common presentation in symptomatic cases, to rarer neurological presentations such as adult-onset \"benign\" parkinsonism, various types of focal dystonia, and symptoms simulating cerebral palsy or spastic paraplegia. Hyperphenylalaninemia is absent, and patients respond well to treatment with levodopa. Individuals who are homozygous or compound heterozygous for pathogenic variants in GCH1 typically present with hyperphenylalaninemia, often identified by newborn screening, and severe neurological features and due to very low or undetectable enzyme activity. Treatment with levodopa, BH4, and 5-hydroxytryptophan can improve the symptoms but does not prevent development of severe encephalopathy. Rare cases of GTP cyclohydrolase I deficiency with a phenotype that is intermediate in severity between dopa-responsive dystonia and the severe autosomal recessive form have also been described, supporting the existence a phenotypic spectrum of disease." "" + "dystonia 12" "Rapid-onset dystonia-parkinsonism (RDP) is a very rare movement disorder, characterized by the abrupt onset of parkinsonism and dystonia, often triggered by physical or psychological stress." "" + "inherited dystonia" "An instance of dystonic disorder that is caused by an inherited modification of the individual's genome." "" + "ATP1A3-associated neurological disorder" "Any neurological disorder in which the cause of the disease is a mutation in the ATP1A3." "" + "ear antitragus, tag at base of" "" + "ear exostoses" "" + "ear folding" "" + "preauricular fistulae, congenital" "" + "ear pits, posterior helical" "" + "ear without helix" "" + "microtia" "Microtia is a congenital malformation of the external ear, seen more frequently in males, that occurs sporadically or is inherited, that is characterized by unilateral (79-93% of cases, 60% of which involve the right ear) or bilateral small and abnormally shaped auricles and that is often associated with atresia or stenosis of the ear canal, attention deficit disorders and delayed language development. The variation in auricle size ranges from grade I, where the auricle is simply smaller than normal, to grade IV, also known as anotia, where there is a complete absence of the external ear and of the auditory canal." "" + "thickened earlobes-conductive deafness syndrome" "Thickened earlobes-conductive deafness syndrome is characterized by microtia with thickened ear lobes, micrognathia and conductive hearing loss due to congenital ossicular anomalies. It has been described in two families. The mode of inheritance is autosomal dominant." "" + "earring holes, natural" "" + "obsoleted echo virus 11 sensitivity" "" "true" + "absence of fingerprints-congenital milia syndrome" "Absence of fingerprints-congenital milia syndrome is characterized by neonatal blisters and milia (small white papules, especially on the face) and congenital absence of dermatoglyphics on the hands and feet. It has been reported in two kindreds (one of which contained 13 affected individuals spanning three generations) and in an unrelated individual. Some affected patients also showed bilateral partial flexion contractures of the fingers and toes, and webbing of the toes. The syndrome is inherited as an autosomal dominant trait." "" + "Rapp-Hodgkin syndrome" "A form of ectodermal dysplasia characterized by the association of anhidrotic ectodermal dysplasia with cleft lip/palate." "" + "ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant" "" + "autosomal dominant hypohidrotic ectodermal dysplasia" "Autosomal dominant form of hypohidrotic ectodermal dysplasia." "" + "Clouston syndrome" "Clouston syndrome (or hidrotic ectodermal dysplasia) is characterised by the clinical triad of nail dystrophy, alopecia, and palmoplantar hyperkeratosis." "" + "ectodermal dysplasia, trichoodontoonychial type" "Ectodermal dysplasia, trichoodontoonychial type is a form of ectodermal dysplasia with hair, teeth and nail involvement characterized predominantly by hypodontia, hypotrichosis, delayed hair growth and brittle nails. Additionally, focal dermal hypoplasia, irregular hyperpigmentation, hypoplastic or absent nipples, amastia, hearing impairment, congenital hip dislocation and asthma have been associated. There have been no further descriptions in the literature since 1996." "" + "ectodermal dysplasia syndrome with distinctive facial appearance and preaxial polydactyly of feet" "" + "ectodermal dysplasia with adrenal cyst" "" + "ectopia lentis 1, isolated, autosomal dominant" "Any isolated ectopia lentis in which the cause of the disease is a mutation in the FBN1 gene." "" + "isolated ectopia lentis" "Isolated ectopia lentis (IEL) is a rare, clinically variable, eye disorder characterized by dislocation of the lens, often causing significant reduction in visual acuity." "" + "ectopia pupillae" "" + "ectrodactyly and ectodermal dysplasia without cleft lip/palate" "" + "ectrodactyly-cleft palate syndrome" "" + "edema, familial idiopathic, prepubertal" "" + "Edinburgh malformation syndrome" "Edinburgh malformation syndrome is a rare, genetic, lethal, multiple congenital anomalies/dysmorphic syndrome characterized by consistently abnormal facial appearance, true or apparent hydrocephalus, motor and cognitive developmental delay, failure to thrive (feeding difficulties, vomiting, chest infections) and death within a few months of birth. Carp mouth, hairiness of the forehead, neonatal hyperbilirubinemia and advanced bone age may also be associated. There have been no further descriptions in the literature since 1991." "" + "genetic lethal multiple congenital anomalies/dysmorphic syndrome" "An instance of lethal multiple congenital anomalies/dysmorphic syndrome that is caused by an inherited modification of the individual's genome." "" + "ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1" "An EEC syndrome characterized by autosomal dominant inheritance that has material basis in variation in the chromosome region 7q11.2-q21.3." "" + "EEC syndrome" "EEC syndrome is a genetic developmental disorder characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefts (cleft lip/palate)." "" + "obsolete egasyn" "" "true" + "Ehlers-Danlos syndrome, classic type" "Ehlers-Danlos syndrome, classic type (cEDS) is a form of Ehlers-Danlos syndrome that affects the connective tissue and is characterized by skin hyperextensibility, widened atrophic scars and joint hypermobility." "" + "syndromic diaphragmatic or abdominal wall malformation" "A diaphragmatic or abdominal wall malformation that is part of a larger syndrome." "" + "syndromic diaphragmatic or thoracic malformation" "" + "Ehlers-Danlos syndrome" "The Ehlers–Danlos syndromes (EDS) are a clinically and genetically heterogeneous group of heritable connective tissue disorders (HCTDs) characterized by joint hypermobility, skin hyperextensibility, and tissue fragility." "" + "Ehlers-Danlos syndrome, hypermobility type" "Ehlers-Danlos syndrome, hypermobility type (HT-EDS) is the most frequent form of EDS, a group of hereditary connective tissue diseases, and is characterized by joint hyperlaxity, mild skin hyperextensibility, tissue fragility and extra-musculoskeletal manifestations." "" + "autosomal dominant Ehlers-Danlos syndrome, vascular type" "The autosomal dominant form of the vascular type of Ehlers-Danlos syndrome. vEDS is almost always inherited in an autosomal dominant manner but rare examples of biallelic inheritance have been reported." "" + "Ehlers-Danlos syndrome, arthrochalasis type" "Arthrochalasia Ehlers-Danlos syndrome (aEDS) is an inherited connective tissue disorder that is caused by defects in a protein called collagen. Common symptoms include severe joint hypermobility ; congenital hip dislocation; fragile, hyperextensible skin; hypotonia ; and kyphoscoliosis (kyphosis and scoliosis). EDS, arthrochalasia type is caused by changes (mutations) in the COL1A1 gene or the COL1A2 gene and is inherited in an autosomal dominant manner. Treatment and management is focused on preventing serious complications and relieving associated signs and symptoms." "" + "Ehlers-Danlos syndrome, spondylodysplastic type" "A form of Ehlers-Danlos syndrome characterized by a premature aging with sparse hair, macrocephaly, loose elastic skin, failure to thrive, joint laxity, psychomotor retardation, hypotonia, and defective wound healing with atrophic scars." "" + "congenital disorder of glycosylation with skin involvement" "True" + "Ehlers-Danlos syndrome, periodontitis type" "Ehlers-Danlos syndromes (EDS) form a heterogeneous group of hereditary connective tissue diseases characterized by joint hyperlaxity, cutaneous hyperelasticity and tissue fragility." "" + "Ehlers-Danlos syndrome, autosomal dominant, type unspecified" "" + "elastosis perforans serpiginosa" "" + "electroencephalographic peculiarity: 14 and 6 per sec. positive spike phenomenon" "" + "electroencephalographic peculiarity: fronto-precentral beta wave groups" "" + "Electroencephalographic peculiarity: occipital slow beta waves" "True" + "elliptocytosis 2" "Any hereditary elliptocytosis in which the cause of the disease is a mutation in the SPTA1 gene." "" + "hereditary elliptocytosis" "Hereditary elliptocytosis (HE) is a rare clinically and genetically heterogeneous disorder of the red cell membrane characterized by manifestations ranging from mild to severe transfusion-dependent hemolytic anemia but with the majority of patients being asymptomatic." "" + "Beckwith-Wiedemann syndrome" "Beckwith-Wiedemann syndrome (BWS) is a genetic disorder characterized by overgrowth, tumor predisposition and congenital malformations." "" + "inherited renal cancer-predisposing syndrome" "" + "overgrowth syndrome" "A group of syndromes caused by genetic birth defects that may lead to the development of malignancies. It is characterized by a large body size or large body parts at birth, or excessive body growth early in childhood. Representative examples include neurofibromatosis, Beckwith-Wiedemann syndrome, and Sturge-Weber syndrome." "" + "macroglossia" "The presence of an excessively large tongue, which may be congenital or may develop as a result of a tumor or edema due to obstruction of lymphatic vessels, or it may occur in association with hyperpituitarism or acromegaly. It also may be associated with malocclusion because of pressure of the tongue on the teeth. (From Jablonski, Dictionary of Dentistry, 1992)" "" + "emphysema, hereditary pulmonary" "" + "congenital lobar emphysema" "Congenital lobar emphysema (CLE) is a respiratory abnormality characterized by respiratory distress due to hyperinflation of one or more affected lobes of the lung." "" + "respiratory malformation" "" + "respiratory or mediastinal malformation" "" + "non-syndromic respiratory or mediastinal malformation" "A respiratory or mediastinal malformation that is not part of a larger syndrome." "" + "lateral meningocele syndrome" "" + "amelogenesis imperfecta, type 3A" "Any amelogenesis imperfecta in which the cause of the disease is a mutation in the FAM83H gene." "" + "encephalopathy, recurrent, of childhood" "" + "multiple endocrine neoplasia type 1" "Multiple endocrine neoplasia Type 1 (MEN1) is a frequent form of MEN, a rare inherited cancer syndrome, characterized by the development of neuroendocrine tumors of the parathyroid, pancreas, and anterior pituitary gland, and less commonly the adrenal cortical gland, with other non-endocrine tumors in some patients." "" + "multiple endocrine neoplasia" "Multiple endocrine neoplasia (MEN) is a group of rare inherited cancer syndromes characterized by the development of two or more endocrine gland tumors, sometimes with tumor development in other tissues or organs." "" + "familial primary hyperparathyroidism" "An instance of primary hyperparathyroidism (disease) that is caused by an inherited modification of the individual's genome." "" + "inherited digestive cancer-predisposing syndrome" "" + "endometriosis, susceptibility to, 1" "" + "Camurati-Engelmann disease" "Camurati-Englemann disease (CED) is a rare, clinically variable bone dysplasia syndrome characterized by hyperostosis of the long bones, skull, spine and pelvis, associated with severe pain in the extremities, a wide-based waddling gait, joint contractures, muscle weakness and easy fatigability." "" + "enolase, sperm specific" "" + "eosinophilia, familial" "Familial occurrence, with more than one generation being affected, of persistent eosinophilia, an increase in the number of eosinophils in the blood, in the absence of known causal factors." "" + "Eosinophilopenia" "" + "myeloproliferative disorder, chronic, with eosinophilia" "" + "myeloproliferative neoplasm, unclassifiable" "This subgroup of myeloproliferative neoplasms includes cases which do not meet the morphologic criteria of any of the defined myeloproliferative neoplasms, or which have characteristics that overlap at least two of the myeloproliferative neoplasms." "" + "epidermoid cysts" "The most common type of cutaneous cyst. It results from the proliferation of epidermal cells in a circumscribed space within the dermis. It is usually asymptomatic and presents as a firm, round nodule." "" + "transient bullous dermolysis of the newborn" "Transient bullous dermolysis of the newborn is a rare subtype of dystrophic epidermolysis bullosa (DEB) characterized by generalized blistering at birth that usually regresses within the first 6 to 24 months of life." "" + "generalized dominant dystrophic epidermolysis bullosa" "Generalized dominant dystrophic epidermolysis bullosa (DDEB-gen) is a subtype of dystrophic epidermolysis bullosa (DEB), formerly known as DDEB, Pasini and Cockayne-Touraine types, characterized by generalized blistering, milia formation, atrophic scarring, and dystrophic nails." "" + "epidermolysis bullosa simplex Dowling-Meara type" "Epidermolysis bullosa simplex, Dowling-Meara type (EBS-DM) is a basal subtype of epidermolysis bullosa simplex (EBS) characterized by the presence of generalized vesicles and small blisters in grouped or arcuate configuration." "" + "basal epidermolysis bullosa simplex" "A form of epidermolysis bullosa simplex in which blistering occurs within the basal keratinocytes." "" + "localized epidermolysis bullosa simplex" "Localized epidermolysis bullosa simplex, formerly known as EBS, Weber-Cockayne, is a basal subtype of epidermolysis bullosa simplex (EBS). The disease is characterized by blisters occurring mainly on the palms and soles, exacerbated by warm weather." "" + "pretibial dystrophic epidermolysis bullosa" "Pretibial dystrophic epidermolysis bullosa is a rare subtype of dystrophic epidermolysis bullosa (DEB) characterized by the development of blisters, erosions, and lichenoid lesions predominantly in the pretibial region." "" + "epidermolysis bullosa with deficiency of galactosylhydroxylysyl glucosyltransferase" "" + "generalized epidermolysis bullosa simplex, non-Dowling-Meara type" "Non-Dowling-Meara generalized epidermolysis bullosa simplex, formerly known as epidermolysis bullosa simplex, Kobner type (EBS-K) is a generalized basal subtype of epidermolysis bullosa simplex (EBS) characterized by non-herpetiform blisters and erosions arising in particular at sites of friction." "" + "epidermolysis bullosa simplex Ogna type" "Epidermolysis bullosa simplex, Ogna type (EBS-O) is a basal subtype of epidermolysis bullosa simplex (EBS) characterized by sometimes widespread, primarily acral blistering." "" + "epidermolysis bullosa simplex with mottled pigmentation" "Epidermolysis bullosa simplex with mottled pigmentation (EBS-MP) is a basal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized blistering with mottled or reticulate brown pigmentation." "" + "epidermolysis bullosa with congenital localized absence of skin and deformity of nails" "" + "benign occipital epilepsy" "Benign occipital epilepsy is a rare, genetic neurological disorder characterized by visual seizures and occipital epileptiform paroxysms reactive to ocular opening which present in infancy to mid-adolescence. Vomiting, tonic eye deviation and impairment of consciousness are typically associated with the Panayiotopoulos type, while visual hallucinations, ictal blindness and post-ictal headache are commonly observed in the Gastaut type. Electroencephalographic findings in both types are similar and include bilateral, synchronous, high voltage spike-wave complexes in a normal background activity located predominantly in the occipital lobes." "" + "childhood-onset epilepsy syndrome" "A epilepsy syndrome that occurs during childhood." "" + "photoparoxysmal response 1" "" + "photosensitive epilepsy" "An epilepsy characterized by seizures triggered by visual stimuli that form patterns in space or time, such as flashing lights." "" + "reading seizures" "" + "multiple epiphyseal dysplasia type 1" "Multiple epiphyseal dysplasia type 1 (MED 1) is a form of multiple epiphyseal dysplasia that is characterized by normal or mild short stature, pain in the hips and/or knees, progressive deformity of extremities and early-onset osteoarthrosis. Specific features to MED 1 include a more pronounced involvement of hip joints and gait abnormality and a shorter adult height. MED1 is allelic to pseudoachondroplasia with which it shares clinical and radiological features. The disease follows an autosomal dominant mode of transmission." "" + "multiple epiphyseal dysplasia" "Multiple epiphyseal dysplasias (MED/EDMs) are characterized by epiphyseal anomalies causing joint pain early in life, recurrent osteochondritis and early arthrosis. The EDMs are a heterogeneous group of diseases with variable expression classed as MED/EDMs 1-6." "" + "multiple epiphyseal dysplasia, Beighton type" "Multiple epiphyseal dysplasia, Beighton type is a skeletal dysplasia characterized by epiphyseal dysplasia (usually mild) associated with progressive myopia, retinal thinning, crenated cataracts, conductive deafness, and stubby digits." "" + "obsolete epistaxis, hereditary" "" "true" + "pilomatrixoma" "Pilomatrixoma is a rare and benign hair cell-derived tumor occurring mostly in young adults (usually under the age of 20) and characterized as a 3-30 mm solitary, painless, firm, mobile, deep dermal or subcutaneous tumor, most commonly found in the head, neck or upper extremities. When superficial, the tumors tint the skin blue-red. Multiple pilomatrixomas are seen in myotonic dystrophy, Gardner syndrome, Rubinstein-Taybi syndrome, and Turner syndrome." "" + "familial cylindromatosis" "" + "Brooke-Spiegler syndrome" "Brooke-Spiegler syndrome (BSS) is an inherited predisposition syndrome presenting with skin appendage tumors, namely cylindromas, spiradenomas and trichoepitheliomas. A minority of patients can also get major and minor salivary glands neoplasms, usually membranous basal cell adenoma." "" + "multiple self-healing squamous epithelioma" "Multiple self-healing squamous epithelioma (also known as Ferguson-Smith disease (FSD)) is a rare inherited skin cancer syndrome characterized by the development of multiple locally invasive skin tumors resembling keratoacanthomas of the face and limbs which usually heal spontaneously after several months leaving pitted scars." "" + "benign tumor of palpebral epidermis" "A benign neoplasm that involves the skin of eyelid." "" + "obsolete Epstein-Barr virus insertion site 1" "" "true" + "aortic aneurysm, familial thoracic 4" "Any familial thoracic aortic aneurysm and aortic dissection in which the cause of the disease is a mutation in the MYH11 gene." "" + "familial thoracic aortic aneurysm and aortic dissection" "A rare genetic vascular disease characterized by the familial occurrence of thoracic aortic aneurysm, dissection or dilatation affecting one or more aortic segments (aortic root, ascending aorta, arch or descending aorta) in the absence of any other associated disease. Depending on the size, location and progression rate of dilatation/dissection, patients may be asymptomatic or may present dyspnea, cough, jaw, neck, chest or back pain, head, neck or upper limb edema, difficulty swallowing, voice hoarseness, pale skin, faint pulse and/or numbness/tingling in limbs. Patients have increased risk of presenting life threatening aortic rupture." "" + "erythema nodosum, familial" "" + "erythema palmare hereditarium" "A rare, benign, congenital genetic skin disorder characterized by permanent and asymptomatic erythema of the palmar and, less frequently, the solar surfaces. In most cases, it presents with sharply demarcated redness of the thenar and hypothenar eminences, as well as the palmar aspect of the phalanges, with scattered telangiectasia spots that do not cause any discomfort (pain, itching or burning) to the patient." "" + "primary erythermalgia" "Primary erythermalgia is characterized by intermittent attacks of red, warm, painful burning extremities. It spontaneously arises during early childhood and adolescence in the absence of any detectable underlying disorder." "" + "erythromelalgia" "A rare neurovascular peripheral pain disorder due to the intermittent blockage of the blood vessels, usually in the lower extremities or hands. This causes hyperemia and inflammation at the origin of burning pain and skin redness. The attacks are periodic and are commonly triggered by heat, pressure, mild activity, exertion, insomnia or stress. Erythromelalgia may occur either as a primary or secondary disorder. Primary erythromelalgia is caused by gene mutations. Secondary erythromelalgia can result from small fiber peripheral neuropathy of any cause, essential thrombocytemia, hypercholesterolemia, mushroom or mercury poisoning, and some autoimmune disorders." "" + "primary familial polycythemia due to EPO receptor mutation" "Primary familial polycythemia is an inherited hematological disorder resulting from mutations in the erythropoietin (EPO) receptor and is characterized by an elevated absolute red blood cell mass caused by uncontrolled red blood cell production in the presence of low EPO levels." "" + "acute erythroleukemia, familial" "An instance of acute erythroleukemia that is caused by an inherited modification of the individual's genome." "" + "acute erythroid leukemia" "An acute myeloid leukemia characterized by a predominant immature erythroid population. There are two subtypes recognized: erythroleukemia and pure erythroid leukemia. (WHO, 2001)" "" + "inherited acute myeloid leukemia" "An instance of acute myeloid leukemia that is caused by an inherited modification of the individual's genome." "" + "spinocerebellar ataxia type 34" "Spinocerebellar ataxia type 34 (SCA34) is a subtype of autosomal dominant cerebellar ataxia type I (ADCA type I), characterized by papulosquamous, ichthyosiform plaques on the limbs appearing shortly after birth and later manifestations including progressive ataxia, dysarthria, nystagmus and decreased reflexes." "" + "erythrokeratoderma" "" + "obsolete erythrokeratodermia variabilis" "" "true" + "esophageal ring, lower" "" + "esterase B" "" + "esterase C" "" + "esterase ES-2, regulator for" "" + "exchondrosis of pinna, posterior" "" + "obsolete Cockayne syndrome B" "" "true" + "exostoses of heel" "" + "exostoses-anetodermia-brachydactyly type E syndrome" "Exostoses-anetodermia-brachydactyly type E syndrome is an association reported in a single kindred characterized by the variable presence of the following features: anetodermia (macular atrophy of the skin), multiple exostoses, and brachydactyly type E. There have been no further descriptions in the literature since 1985." "" + "exostoses, multiple, type 1" "Any exostoses, multiple in which the cause of the disease is a mutation in the EXT1 gene." "" + "exostoses, multiple, type 2" "This gene is involved in the heparin/heparin sulfate biosynthesis, cell organization/biogenesis and development of the cytoskeleton in chondrocytes." "" + "external auditory canal atresia-vertical talus-hypertelorism syndrome" "" + "extrasystoles-short stature-hyperpigmentation-microcephaly syndrome" "Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome is a rare, genetic, malformation syndrome with short stature characterized by microcephaly, borderline intellectual disability, hyperpigmentation of the skin, short stature, and ventricular extrasystoles. Cardiac syncope may also be associated. There have been no further descriptions in the literature since 1975." "" + "exudative vitreoretinopathy 1" "" + "exudative vitreoretinopathy" "Familial exudative vitreoretinopathy (FEVR) is a rare hereditary vitreoretinal disorder characterized by abnormal or incomplete vascularization of the peripheral retina leading to variable clinical manifestations ranging from no effects to minor anomalies, or even retinal detachment with blindness." "" + "hemifacial hypertrophy" "Hemifacial hyperplasia is a rare morphological anomaly of the maxillofacial region characterized by unilateral overgrowth of all facial structures (bone, soft tissues, teeth), called true hemifacial hypertrophy, or overgrowth of one or more but not all facial structures, called partial hemifacial hypertrophy. It may be isolated or related to some syndromes (e.g. Beckwith-Wiedemann, Proteus, Klippel-Trenaunay-Weber, McCune-Albright syndrome, Neurofibromatosis type 1). It may be associated with airway obstruction, sensorineural hearing loss or swallowing difficulties." "" + "facial hypertrichosis" "True" + "familial recurrent peripheral facial palsy" "" + "facial spasm" "" + "factor 5 excess with spontaneous thrombosis" "" + "inherited thrombophilia" "An instance of thrombophilia that is inherited." "" + "factor VII and Factor VIII, combined deficiency of" "" + "obsolete factor VIII deficiency" "" "true" + "factor VIII and Factor IX, combined deficiency of" "" + "factors VIII, IX and XI, combined deficiency of" "" + "factor 9 and Factor XI, combined deficiency of" "" + "primary Fanconi syndrome" "A condition in which the kidneys do not absorb certain substances into the body. These substances, such as cysteine, fructose, galactose, or glycogen, are lost in the urine. Fanconi syndrome is thought to be caused by genetic and environmental factors, and it may be diagnosed at any age. Symptoms of Fanconi syndrome include increased urine production (which may cause dehydration), weakness, and abnormalities of the bones." "" + "inherited Fanconi renotubular syndrome" "An instance of Fanconi renotubular syndrome that is inherited." "" + "familial Mediterranean fever, autosomal dominant" "" + "familial Mediterranean fever" "Familial Mediterranean fever (FMF) is an autoinflammatory disorder characterized by recurrent short episodes of fever and serositis resulting in pain in the abdomen, chest, joints and muscles." "" + "obsolete favism, susceptibility to" "" "true" + "Felty syndrome" "Felty syndrome (FS), also known as ''super rheumatoid'' disease, is a severe form of rheumatoid arthritis (RA), characterized by a triad of RA, splenomegaly and neutropenia, resulting in susceptibility to bacterial infections." "" + "acquired neutropenia" "An instance of neutropenia that is acquired during the lifetime of the individual." "" + "femoral-facial syndrome" "Femoral-facial syndrome is characterized by predominant femoral hypoplasia (bilateral or unilateral) and unusual facies." "" + "fibrinolytic defect" "" + "fibrodysplasia ossificans progressiva" "Fibrodysplasia ossificans progressiva (FOP) is a severely disabling heritable disorder of connective tissue characterized by congenital malformations of the great toes and progressive heterotopic ossification that forms qualitatively normal bone in characteristic extraskeletal sites." "" + "primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments" "True" + "Birt-Hogg-Dube syndrome" "Birt-Hogg-Dube (BHD) syndrome is characterized by skin lesions, kidney tumors, and pulmonary cysts that may be associated with pneumothorax. It is a rare clinicopathologic condition named after the three Canadian physicians who reported the syndrome in 1977." "" + "desmoid tumor" "A desmoid tumor (DT) is a benign, locally invasive soft tissue tumor associated with a high recurrence rate but with no metastatic potential." "" + "fibromatosis, gingival, 1" "Any gingival fibromatosis in which the cause of the disease is a mutation in the SOS1 gene." "" + "hereditary gingival fibromatosis" "Hereditary gingival fibromatosis (HGF) is a rare benign, slowly progressive, non-inflammatory fibrous hyperplasia of the maxillary and mandibular gingivae that generally occurs with the eruption of the permanent (or more rarely the primary) dentition or even at birth. It presents as a localized or generalized, smooth or nodular overgrowth of the gingival tissues of varying severity. It can be isolated, with autosomal dominant inheritance, or as part of a syndrome." "" + "gingival fibromatosis-hypertrichosis syndrome" "Gingival fibromatosis - hypertrichosis syndrome is a rare autosomal dominant disorder characterized by a generalized enlargement of the gingiva occurring at birth or during childhood that is associated with generalized hypertrichosis developing at birth, during the first years of life, or at puberty and predominantly affecting the face, upper limbs, and midback." "" + "obsolete Zimmermann-Laband syndrome" "" "true" + "gingival fibromatosis-progressive deafness syndrome" "Gingival fibromatosis-progressive deafness syndrome is characterized by gingival fibromatosis associated with progressive sensorineural hearing loss. It has been described in two families (with at least 16 affected members spanning five generations in one of the families, and five affected members spanning three generations in the other family). It is transmitted as an autosomal dominant trait." "" + "obsolete fibromuscular dysplasia of arteries" "" "true" + "congenital fibrosis of extraocular muscles" "" + "laurin-Sandrow syndrome" "Laurin-Sandrow syndrome (LSS) is characterised by complete polysyndactyly of the hands, mirror feet and nose anomalies (hypoplasia of the nasal alae and short columella), often associated with ulnar and/or fibular duplication (and sometimes tibial agenesis). It has been described in less than 20 cases. Some cases with the same clinical signs but without nasal defects have also been reported, and may represent the same entity. The etiology of LSS is unknown. Different modes of inheritance have been suggested." "" + "fibula, recurrent dislocation of head of" "" + "Coffin-Siris syndrome 1" "Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the ARID1B gene." "" + "Coffin-Siris syndrome" "Coffin-Siris syndrome (CSS) is a rare congenital multi-systemic genetic disorder characterized by aplasia or hypoplasia of the distal phalanx or nail of the fifth digit, developmental delay, intellectual disability, coarse facial features, and other variable clinical manifestations." "" + "BAFopathy" "Disorder caused by mutations in the various subunits composing the BAF complex." "" + "autosomal dominant non-syndromic intellectual disability" "Autosomal dominant form of non-syndromic intellectual disability." "" + "Eng-Strom syndrome" "Eng-Strom syndrome is characterised by intrauterine growth retardation and intermittent locking of the finger joints. It has been described in two individuals: a mother and her daughter. The mode of transmission is autosomal dominant." "" + "isolated congenital adermatoglyphia" "Isolated congenital adermatoglyphia is a rare, genetic develomental defect during embryogenesis disorder characterized by the lack of epidermal ridges on the palms and soles, resulting in the absence of fingerprints, with no other associated manifestations. It is associated with a reduced number of sweat gland openings and reduced transpiration of palms and soles." "" + "fish eye disease" "Fish eye disease (FED) is a form of genetic LCAT (lecithin-cholesterol acyltransferase) deficiency characterized clinically by corneal opacifications, and biochemically by significantly reduced HDL cholesterol and partial LCAT enzyme deficiency." "" + "LCAT deficiency" "LCAT (lecithin-cholesterol acyltransferase) deficiency is a rare lipoprotein metabolism disorder characterized clinically by corneal opacities, and sometimes renal failure and hemolytic anemia, and biochemically by severely reduced HDL cholesterol." "" + "floating-Harbor syndrome" "Floating-Harbor syndrome is a genetic developmental disorder characterized by facial dysmorphism, short stature with delayed bone age, and expressive language delay." "" + "flood factor deficiency" "True" + "flushing of ears and somnolence" "" + "Flynn-Aird syndrome" "Flynn-Aird syndrome is a neuroectodermal disorder involving the nervous, cutaneous, skeletal, and glandular systems. It has been described in 10 members from five generations of one family. Clinical manifestations include eye abnormalities (cataracts, retinitis pigmentosa, and myopia), sensorineural deafness, ataxia, peripheral neuritis, epilepsy, dementia, skin atrophy and striking dental caries. Patients also present with muscle wasting, joint stiffness and bone cysts. Flynn-Aird syndrome is transmitted as an autosomal dominant trait. It shows some similarities to the syndromes of Werner, Refsum and Cockayne." "" + "premature aging syndrome" "Changes in the organism associated with senescence, occurring at an accelerated rate." "" + "focal epithelial hyperplasia of the oral mucosa" "" + "familial congenital palsy of trochlear nerve" "An instance of fourth cranial nerve palsy that is caused by an inherited modification of the individual's genome." "" + "congenital trochlear nerve palsy" "" + "focal facial dermal dysplasia type I" "Focal facial dermal dysplasia type I (FFDD1), also known as Brauer syndrome, is a focal facial dysplasia (FFDD) characterized by congenital bitemporal cutis aplasia." "" + "focal facial dermal dysplasia" "Focal facial dermal dysplasias (FFDD) are rare ectodermal dysplasias, characterized by congenital bitemporal (resembling forceps marks) or preauricular scar-like lesions associated with additional facial and or systematic manifestations. 4 types of FFDD are described (FFDD I to IV). FFDD types II and III present with a variable facial dysmorphism including distichiasis (upper lashes) or lacking eyelashes, and upward slanting and thinned lateral eyebrows with a flattened nasal bridge and full upper lip. FFDD types I and IV are infrequently associated with extra-cutaneous anomalies." "" + "foveal hypoplasia 1" "Any foveal hypoplasia in which the cause of the disease is a mutation in the PAX6 gene." "" + "foveal hypoplasia" "" + "fragile site 10Q23" "" + "North Carolina macular dystrophy" "North Carolina macular dystrophy (NCMD) is a non-progressive autosomal dominant macular disorder of congenital or infantile onset characterized by loss of central vision, the accumulation of drusen in the macula and atrophy of photoreceptor cells with a variable phenotype at macular examination." "" + "chromosome 16p12.1 deletion syndrome, 520kb" "A condition caused by a 520 kb deletion at 16p12.1. It is characterized by developmental delay, craniofacial dysmorphology and congenital heart defects." "" + "partial deletion of the short arm of chromosome 16" "" + "obsolete fragile site, Distamycin a type, rare, fra(16)(q22.1)" "" "true" + "Friedreich ataxia, so-called, with optic atrophy and sensorineural deafness" "" + "intellectual disability, FRA12A type" "" + "Frasier syndrome" "Frasier syndrome is characterised by the association of male pseudohermaphrodism and glomerular nephropathy. This syndrome is associated with a high risk of developing gonadoblastoma." "" + "primary glomerular disease" "" + "frontorhiny" "Frontorhiny is a distinct syndromic type of frontonasal malformation characterized by hypertelorism, wide nasal bridge, broad columella, widened philtrum, widely separated narrow nares, poor development of nasal tip, midline notch of the upper alveolus, columella base swellings and a low hairline. Additional features reported in some include upper eyelid ptosis and midline dermoid cysts of craniofacial structures and philtral pits or rugose folding behind the ears. An autosomal recessive inheritance has been proposed." "" + "genetic head and neck malformation" "" + "frontonasal dysplasia" "A group of rare bone development disorders characterized by an array of abnormalities affecting the eyes, forehead, and nose, and linked to midfacial dysraphia. The clinical picture is highly variable, but the major findings include hypertelorism, a broad nasal root, a large and bifid nasal tip, and widow's peak. Occasionally, abnormalities can include accessory nasal tags, cleft lip, ocular abnormalities (coloboma, cataract, microphthalmia), conductive hearing loss, basal encephalocele and/or agenesis of the corpus callosum. Intellectual deficit is rare and more likely to occur in cases where hypertelorism is severe or where there is extra-cranial involvement." "" + "corneal dystrophy, Fuchs endothelial, 1" "Any Fuchs' endothelial dystrophy in which the cause of the disease is a mutation in the COL8A2 gene." "" + "fucosidase regulator" "" + "fundus albipunctatus" "Fundus albipunctatus is a rare, genetic retinal dystrophy characterized by the presence of numerous small, round, yellowish-white retinal lesions that are distributed throughout the retina but spare the fovea. Patients present in childhood with non-progressive night blindness with prolonged cone and rod adaptation times. The macula may or may not be involved, which may result in a decrease of central visual acuity with age." "" + "RDH5-related retinopathy" "A retinopathy caused by bialleleic variants in the RDH5 gene, often involving flecks in the retina." "" + "RLBP1-related retinopathy" "A retinopathy caused by bialleleic variants in the RLBP1 gene, often involving flecks in the retina." "" + "Sorsby fundus dystrophy" "A rare progressive autosomal dominant macular dystrophy, presenting between the third and sixth decades of life, characterized by retinal atrophy and retinal detachment and leading to loss of central vision, then peripheral vision, and eventually blindness." "" + "obsolete Futcher line" "" "true" + "isolated agenesis of gallbladder" "" + "gamma-A-globulin, defect in assembly of" "" + "IgAD1" "Decreased or absent levels of serum immunoglobulin A, with normal serum levels of immunoglobulin G and immunoglobulin M in a patient who is older than 4 years of age and in whom all other causes of hypogammaglobulinemia have been excluded. Affected individuals may be asymptomatic or have frequent infections, allergic reactions, or autoimmune disorders." "" + "gastric sneezing" "True" + "Gamstorp-Wohlfart syndrome" "Autosomal recessive axonal neuropathy with neuromyotonia is a rare peripheral neuropathy characterized by slowly progressive axonal, motor greater than sensory polyneuropathy combined with neuromytonia (including spontaneous muscular activity at rest (myokymia), impaired muscle relaxation (pseudomyotonia), and contractures of hands and feet) and neuromyotonic or myokymic discharges on needle EMG. It presents with distal lower limb weakness with gait impairment, muscle stiffness, fasciculations and cramps in hands and legs worsened by cold, decreased to absent tendon reflexes, intrinsic hand muscle atrophy and, variably, mild distal sensory impairment." "" + "autosomal recessive axonal hereditary motor and sensory neuropathy" "Autosomal recessive form of axonal hereditary motor and sensory neuropathy." "" + "gastric volvulus, intrathoracic" "" + "hereditary diffuse gastric adenocarcinoma" "An autosomal dominant inherited adenocarcinoma that arises from the gastric mucosa and is characterized by the presence of poorly cohesive malignant cells and absence of glandular formations." "" + "genetic gastro-esophageal disease" "" + "gastric juice peptides" "" + "marginal zone lymphoma" "A usually indolent mature B-cell lymphoma, arising from the marginal zone of lymphoid tissues. It is characterized by the presence of small to medium sized atypical lymphocytes. It comprises three entities, according to the anatomic sites involved: extranodal marginal zone B-cell lymphoma of mucosa-associated lymphoid tissue, which affects extranodal sites (most often stomach, lung, skin, and ocular adnexa); nodal marginal zone B-cell lymphoma, which affects lymph nodes without evidence of extranodal disease; and splenic marginal zone B-cell lymphoma, which affects the spleen and splenic hilar lymph nodes, bone marrow, and often the peripheral blood." "" + "gastrocutaneous syndrome" "" + "gastric mucosal hypertrophy" "MC)nC)trier disease (MD) is a rare premalignant hyperproliferative gastropathy characterized by massive overgrowth of foveolar cells in the gastric lining, resulting in large gastric folds, and manifesting with epigastric pain, nausea, vomiting, peripheral edema and, less commonly, anorexia and weight loss." "" + "gastroesophageal disease" "" + "genochondromatosis" "" + "genu valgum, st. Helena familial" "" + "fissured tongue" "" + "Gerstmann-Straussler-Scheinker syndrome" "A very rare and fatal disorder of spongiform encephalopathy usually caused by mutations of the prion protein (PRNP) gene. It is characterized by the accumulation of amyloid in the brain. Signs and symptoms include lack of motor coordination, unsteady gait, and difficulty walking. As the disease progresses, patients develop speech difficulties and dementia." "" + "giant neutrophil leukocytes" "" + "obsolete spitz nevus" "A large, or giant, congenital melanocytic nevus (LCMN or GCMN) is a pigmented skin lesion of more than 20 cm - or 40 cm- respectively, projected adult diameter, composed of melanocytes, and presenting with an elevated risk of malignant transformation." "" "true" + "obsolete giant platelet syndrome with thrombocytopenia" "" "true" + "familial ossifying fibroma" "An instance of ossifying fibroma (disease) that is caused by an inherited modification of the individual's genome." "" + "Tourette syndrome" "A neurologic disorder caused by defective metabolism of the neurotransmitters in the brain. It is characterized by repeated involuntary movements (motor tics) and uncontrollable vocal sounds (vocal tics). The symptoms are usually manifested before the age of eighteen." "" + "anterior segment dysgenesis 4" "Any iridogoniodysgenesis in which the cause of the disease is a mutation in the PITX2 gene." "" + "iridogoniodysgenesis" "" + "Rieger anomaly" "Rieger's anomaly is a congenital ocular defect caused by anterior segment dysgenesis and is characterized by severe anterior chamber deformity with prominent strands and marked atrophy of the iris stroma, with hole or pseudo-hole formation and corectopia. The term covers the association of these iris and pupil anomalies with the features of AxenfeldBs anomaly." "" + "glaucoma with elevated episcleral venous pressure" "" + "hereditary glaucoma" "Hereditary glaucoma is a clinically diverse group of rare eye disorders with genetic predisposition characterized by elevated intraocular pressure (IOP) and glaucomatous changes of the optic nerve head, leading to field defects, visual loss and blindness. Hereditary glaucoma can be sub-classified as primary (congenital glaucoma, juvenile glaucoma) or secondary according to the presence or absence of systemic or other ocular anomalies (iridogoniodysgenesis, Stickler syndrome, Coats syndrome). The clinical presentation is variable and is based on age, severity of glaucoma, presence of ocular abnormalities and development of secondary IOP related abnormalities." "" + "glaucoma 1, open angle, A" "Any juvenile glaucoma in which the cause of the disease is a mutation in the MYOC gene." "" + "juvenile open angle glaucoma" "Juvenile glaucoma (JG) is a rare autosomal dominant open angle glaucoma, characterized by early onset, severe elevation of intra ocular pressure of rapid progression, leading to optic nerve excavation and, when untreated, substantial visual impairment." "" + "glaucoma 1, open angle, E" "A form of glaucoma in which there is no visible abnormality in the trabecular meshwork." "" + "glaucoma-sleep apnea syndrome" "Glaucoma-sleep apnea syndrome is characterized by sleep apnoea associated with glaucoma. It has been described in five members of a family (the mother and four of her children)." "" + "subependymoma" "Subependymoma is a rare and slow growing type of ependymoma, often presenting in middle-aged adults, found more commonly in men than in women, usually located in the fourth and lateral ventricles and manifesting with variable symptoms including headache, nausea, and loss of balance. In some cases it can be asymptomatic. It is usually associated with a better prognosis than other forms of ependymoma." "" + "low grade ependymoma" "" + "globulin anomaly involving beta (2A)-globulin" "" + "renal cysts and diabetes syndrome" "Renal cysts and diabetes syndrome (RCAD) is a rare form of maturity-onset diabetes of the young (MODY) characterized clinically by heterogeneous cystic renal disease and early-onset familial non-autoimmune diabetes. Pancreatic atrophy, liver dysfunction and genital tract anomalies are also features of the syndrome." "" + "hypotrichosis-lymphedema-telangiectasia syndrome (grouping)" "Hypotrichosis - lymphedema - telangiectasia is an extremely rare syndromic lymphedema disorder characterized by early-onset hypotrichosis, childhood-onset lymphedema, and variable telangiectasia, particularly of the palms." "" + "lymphatic malformation" "Primary lymphedema is caused by anatomic or functional defects in the lymphatic system, resulting in chronic swelling of body parts and lymphatic-system malformation." "" + "syndromic lymphedema" "A lymphedema that is part of a larger syndrome." "" + "fibronectin glomerulopathy" "Fibronectin glomerulopathy is a hereditary kidney disease characterized by proteinuria, type IV renal tubular acidosis, microscopic hematuria and hypertension that may lead to end-stage renal failure in the second to sixth decade of life." "" + "glomuvenous malformation" "Glomuvenous malformations (GVMs) are hereditary vascular malformations characterized by the presence of small, multifocal bluish-purple venous lesions involving the skin." "" + "Glucoglycinuria" "" + "glucose-6-phosphate dehydrogenase-like" "" + "glutamic acid decarboxylase, brain, membrane form" "" + "glutathione transferase activity toward trans-stilbene oxide" "" + "hyperglycinuria" "" + "obsolete glycoprotein, renal" "" "true" + "GMS syndrome" "GMS syndrome describes an extremely rare syndrome involving goniodysgenesis, intellectual disability and short stature in addition to microcephaly, short nose, small hands and ears, and that has been seen in one family to date. There have been no further descriptions in the literature since 1992." "" + "goniodysgenesis" "" + "multinodular goiter-cystic kidney-polydactyly syndrome" "Multinodular goiter - cystic kidney - polydactyly syndrome is a very rare syndrome characterized by the association of multinodular goiter, cystic renal disease and digital anomalies." "" + "goiter, multinodular 1, with or without Sertoli-Leydig cell tumors" "Any multinodular goiter in which the cause of the disease is a mutation in the DICER1 gene." "" + "granddad syndrome" "" + "Grant syndrome" "Grant syndrome is a rare osteogenesis imperfecta-like disorder, described in two patients to date, characterized clinically by persistent wormian bones, blue sclera, mandibular hypoplasia, shallow glenoid fossa, and campomelia. There have been no further descriptions in the literature since 1986." "" + "obsolete granulomatous disease, chronic, autosomal dominant type" "" "true" + "granulosis rubra nasi" "" + "gray platelet syndrome" "Gray platelet syndrome (GPS) is a rare inherited bleeding disorder characterized by macrothrombocytopenia, myelofibrosis, splenomegaly and typical gray appearance of platelets on Wright stained peripheral blood smear." "" + "alpha granule disease" "" + "graying of hair, precocious" "" + "Myhre syndrome" "Myhre syndrome is characterised by striking muscular build, short stature, reduced joint mobility, brachydactyly, mixed hearing loss and mental retardation of variable severity. Facial dysmorphism with short palpebral fissures, short philtrum, thin lips, maxillary hypoplasia and prognathism is present. Thick skin has been observed in six patients." "" + "guanylate kinase 3" "" + "aromatase excess syndrome" "Aromatase excess syndrome is a rare, genetic endocrine disease characterized by increased levels of estrogen due to elevated extraglandular aromatase activity. Males present with heterosexual precocious puberty which manifests with pre- or peripubertal onset of gynecomastia, premature growth spurt, accelerated bone maturation resulting in decreased adult stature, and may present mild hypogonadotropic hypogonadism. Female patients may have isosexual precocious puberty or not have any manifestations at all." "" + "peripheral precocious puberty" "Precocious puberty caused by sex hormones." "" + "precocious puberty in female" "A precocious puberty that involves the female organism." "" + "Guillain-Barre syndrome, familial" "A form of Guillain-Barre syndrome (GBS) that occurs in persons or families with a genetic predisposition to the acute or chronic forms of GBS. Note that GBS is considered to be a complex multifactorial disorder with both genetic and environmental factors, and families with clear Mendelian inheritance have been rarely reported: a mutation in the PMP22 gene (601097) on chromosome 17 was identified in a single family with the acute (AIDP) and chronic (CIDP) forms of inflammatory demyelinating polyneuropathy." "" + "Guillain-Barre syndrome" "A spectrum of rare post-infectious neuropathies that usually occur in otherwise healthy patients. GBS is clinically heterogeneous and encompasses acute inflammatory demyelinating polyradiculoneuropathy (AIDP), acute motor axonal neuropathy (AMAN) and acute motor-sensory axonal neuropathy (AMSAN), Miller-Fisher syndrome (MFS) and some other regional variants." "" + "chronic polyradiculoneuropathy" "Chronic form of polyradiculoneuropathy." "" + "hairy ears" "True" + "hypertrichosis cubiti-short stature syndrome" "Hypertrichosis cubiti is a rare hair anomaly characterized by symmetrical, congenital or early-onset, bilateral hypertrychosis localized on the externsor surfaces of the upper extremities (especially the elbows). Short stature, or other abnormalities, such as developmental delay, facial anomalies and intellectual disability, may or may not be associated." "" + "hairy nose tip" "" + "hairy palms and soles" "" + "Emery-Nelson syndrome" "" + "hand clasping pattern" "" + "hand-foot-genital syndrome" "Hand-foot-genital syndrome (HFGS) is a very rare multiple congenital abnormality syndrome characterized by distal limb malformations and urogenital defects." "" + "syndromic uterovaginal malformation" "A uterovaginal malformation that is part of a larger syndrome." "" + "hawkinsinuria" "Hawkinsinuria is an inborn error of tyrosine metabolism characterized by failure to thrive, persistent metabolic acidosis, fine and sparse hair, and excretion of the unusual cyclic amino acid metabolite, hawkinsin ((2-l-cystein-S-yl, 4-dihydroxycyclohex-5-en-1-yl)acetic acid), in the urine." "" + "progressive familial heart block type II" "" + "heart-hand syndrome type 3" "Heart-hand syndrome type 3 is a very rare heart-hand syndrome, described in three members of a Spanish family to date, which is characterized by a cardiac conduction defect (sick sinus, bundle-branch block) and brachydactyly, resembling brachydactyly type C of the hands, affecting principally the middle phalanges in conjunction with an extra ossicle on the proximal phalanx of both index fingers. Feet abnormalities are more subtle." "" + "Holt-Oram syndrome" "Holt-Oram syndrome (HOS) is the most common form of heart-hand syndrome and is characterized by skeletal abnormalities of the upper limbs and mild-to-severe congenital cardiac defects." "" + "obsolete heart, malformation of" "" "true" + "osteoarthritis susceptibility 2" "" + "Heinz body anemia" "" + "cavernous hemangiomas of face-supraumbilical midline raphe syndrome" "" + "hemangiomas of small intestine" "A hemangioma that involves the small intestine." "" + "Kasabach-Merritt syndrome" "Kasabach-Merritt syndrome (KMS), also known as hemangioma-thrombocytopenia syndrome, is a rare disorder characterized by profound thrombocytopenia, microangiopathic hemolytic anemia, and subsequent consumptive coagulopathy in association with vascular tumors, particularly kaposiform hemangioendothelioma or tufted angioma." "" + "hematuria, benign familial" "" + "facial hemiatrophy" "Progressive hemifacial atrophy (PHA) is a rare acquired disorder, characterized by unilateral slowly progressive atrophy of the skin and soft tissues of half of the face leading to a sunken appearance. Muscles, cartilage and the underlying bony structures may also be involved." "" + "Bencze syndrome" "Bencze syndrome or hemifacial hyperplasia with strabismus is a malformation syndrome involving the abnormal growth of the facial skeleton as well as its soft tissue structure and organs, and is characterized by mild facial asymmetry with unaffected neurocranium and eyeballs, as well as by esotropia, amblyopia and/or convergent strabismus, and occasionally submucous cleft palate. Transmission is autosomal dominant. There have been no further descriptions in the literature since 1979." "" + "oculoauriculovertebral spectrum with radial defects" "Oculoauriculovertebral spectrum (OAVS) with radial defects is a rare branchial arches and limb primordia development disorder characterized by variable degrees of uni- or bilateral craniofacial malformation and radial defects that result in extremely variable phenotypic manifestations. Characteristic features include low postnatal weight, short stature, vertebral defects, hearing loss, and facial dysmorphism (incl. facial asymmetry, external, middle, and inner ear malformations, orofacial clefts, and mandibular hypoplasia). These features are invariably associated with radial defects, such as preaxial polydactyly, thumb and/or radius hypoplasia/agenesis, or triphalangeal thumb. Cardiac, pulmonary, renal, and central nervous system involvement has also been reported." "" + "clonic hemifacial spasm" "" + "acquired peripheral movement disorder" "" + "obsolete migraine, familial hemiplegic, 1" "" "true" + "hemolytic poikilocytic anemia due to reduced ankyrin binding sites" "" + "alpha thalassemia-intellectual disability syndrome type 1" "Alpha-thalassemia-intellectual deficit syndrome linked to chromosome 16 (ATR-16), a contiguous gene deletion syndrome, is a form of alpha-thalassemia characterized by microcytosis, hypochromia, normal hemoglobin (Hb) level or mild anemia, associated with developmental abnormalities." "" + "alpha-thalassemia-related diseases" "This term refers to a group of diseases characterized by alpha-thalassemia and an associated disorder. Three conditions are included in this group: alpha thalassemia - X-linked intellectual deficit (or ATR-X syndrome), alpha-thalassemia-intellectual deficit syndrome (or ATR-16 syndrome) and alpha-thalassemia-myelodysplastic disease (or ATMDS).*" "" + "hemoglobin--variants for which the chain carrying the mutation 1S unknown or uncertain" "" + "hepatic adenomas, familial" "" + "hepatocellular adenoma" "A benign epithelial neoplasm arising from the hepatocytes. Grossly, it appears as a soft, round mass which often contains areas of hemorrhage and necrosis. Morphologically, the neoplastic cells resemble normal hepatocytes and form plates separated by sinusoids. Most patients have a history of contraceptive or anabolic steroids use." "" + "diaphragmatic hernia, congenital 1" "" + "hernia, double inguinal" "" + "heterochromia iridis" "" + "Hirschsprung disease, susceptibility to, 1" "Any Hirschsprung disease in which the cause of the disease is a mutation in the RET gene." "" + "Hirschsprung disease" "Hirschsprung disease (HSCR) is a congenital intestinal motility disorder that is characterized by signs of intestinal obstruction due to the presence of an aganglionic segment of variable extent in the terminal part of the colon." "" + "hirsutism-skeletal dysplasia-intellectual disability syndrome" "" + "hereditary progressive mucinous histiocytosis" "Hereditary progressive mucinous histiocytosis is a rare, benign, non-Langerhans cell histiocytosis characterized by childhood or adolescence onset of multiple, small, asymptomatic, slowly progressing, skin-colored to red-brown papules with predilection for the face, dorsal hands, forearms and legs, without associated mucosal or visceral involvement. Histologically, papules are well-circumscribed, unencapsulated, nodular aggregates of histiocytes with abundant mucin in the upper and middermis." "" + "hip dysplasia, Beukes type" "Beukes familial hip dysplasia (BFHD) is a primary bone dysplasia, characterized by premature degenerative arthropathy of the hip. The disease presents with hip joint discomfort/pain and gait disturbances that usually develops in childhood and that progresses to severe functional disability and limited mobility by early adulthood. Involvement of the vertebral bodies and other joints is minimal, height is not significantly reduced, and general health is unimpaired. Radiographically, the femoral heads are flattened and irregular and degenerative osteoarthritis develops in the hip joints, as evidenced by the presence of periarticular cysts, sclerosis, and joint space narrowing." "" + "multiple epiphyseal dysplasia and pseudoachondroplasia" "" + "autosomal dominant familial periodic fever" "Tumor necrosis factor receptor 1 associated periodic syndrome (TRAPS) is a periodic fever syndrome, characterized by recurrent fever, arthralgia, myalgia and tender skin lesions lasting for 1 to 3 weeks, associated with skin, joint, ocular and serosal inflammation and complicated by secondary amyloidosis." "" + "hereditary periodic fever syndrome" "An instance of periodic fever syndrome that is caused by an inherited modification of the individual's genome." "" + "acne inversa, familial, 1" "Any familial acne inversa in which the cause of the disease is a mutation in the NCSTN gene." "" + "familial acne inversa" "An instance of hidradenitis suppurativa that is caused by an inherited modification of the individual's genome." "" + "developmental dysplasia of the hip 1" "" + "histiocytic dermatoarthritis" "" + "obsolete HLA modifier" "" "true" + "holoprosencephaly 3" "Any holoprosencephaly in which the cause of the disease is a mutation in the SHH gene." "" + "holoprosencephaly" "Holoprosencephaly (HPE) is a complex brain malformation resulting from incomplete cleavage of the prosencephalon, occurring between the 18th and 28th day of gestation, and affecting both the forebrain and face, which results in neurological manifestations and facial anomalies of variable severity." "" + "holoprosencephaly 4" "A rare disorder caused by mutations in the TGIF gene mapped to chromosome 18p11.3. It is characterized by semilobar holoprosencephaly, hypotelorism, and ptosis." "" + "congenital Horner syndrome" "Congenital Horner syndrome is a rare neurological disorder characterized by relative pupillary miosis and blepharoptosis, evident at birth, caused by interruption of the oculosympathetic innervation at any point along the neural pathway from the hypothalamus to the orbit. Often additional symptoms, such as enophthalmos, facial anhidrosis, iris heterochromia, conjunctival congestion, transient hypotonia and/or pupillary dilation lag, may be present. Association with birth trauma, neoplasms or vascular malformations has been reported." "" + "HPA 1 Recognition polymorphism, beta-globin-related" "" + "humeroradial synostosis" "Humero-radial synostosis is a rare, genetic, congenital joint formation defect disorder characterized by uni- or bilateral fusion of the humerus and radius bones at the elbow level, with or without associated ulnar and carpal/metacarpal deficiency, leading to loss of elbow motion and, in many cases, functional arm incapacity. Bowing of radius may be additionally present." "" + "spondyloepiphyseal dysplasia with congenital joint dislocations" "CHST3-related skeletal dysplasia is a very rare bone disorder characterized clinically by short stature of prenatal onset; dislocation of the knees, hips or elbows; club feet; limitation of range of motion of large joints; progressive kyphosis; and occasional scoliosis. In a few patients, minor heart valve dysplasia has also been described. Intellect, vision and hearing are normal." "" + "spondyloepiphyseal dysplasia" "An osteochondrodysplasia that results in abnormalities of bone growth located in vertebral column, located in epiphysis, located in metaphysis." "" + "Huntington disease" "Huntington disease (HD) is a rare neurodegenerative disorder of the central nervous system characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia." "" + "Wagner disease" "Wagner disease is a rare hereditary vitreoretinopathy characterized by an anomaleous vitreous associated with myopia, cataract, chorioretinal atrophy, and peripheral tractional or rhegmatogenous retinal detachment." "" + "syndromic myopia" "A myopia (disease) that is part of a larger syndrome." "" + "congenital hydronephrosis" "Congenital hydronephrosis is a renal urinary disease characterized by distension and dilation of the renal pelvis and calyces secondary to various congenital obstructive malformations of the kidneys and urinary tract that can evolve to renal atrophy." "" + "non-syndromic renal or urinary tract malformation" "A renal or urinary tract malformation that is not part of a larger syndrome." "" + "5-hydroxytryptamine oxygenase regulator" "" + "cholesterol-ester transfer protein deficiency" "" + "hyperalphalipoproteinemia" "An autosomal dominant genetic condition caused by mutation(s) in the CETP gene, encoding cholesteryl ester transfer protein. Affected individuals may have increased longevity due to decreased risk of coronary heart disease." "" + "Gilbert syndrome" "An autosomal recessive inherited disorder characterized by unconjugated hyperbilirubinemia, resulting in harmless intermittent jaundice." "" + "orthostatic hypotensive disorder, Streeten type" "" + "isolated hyperchlorhidrosis" "" + "genetic epidermal appendage anomaly" "An instance of epidermal appendage anomaly that is caused by a modification of the individual's genome." "" + "hypercalciuria, absorptive, 2" "" + "idiopathic inherited hypercalciuria" "" + "obsolete autosomal recessive infantile hypercalcemia" "" "true" + "hypercholesterolemia, familial, 1" "" + "hypercholesterolemia, autosomal dominant, type B" "" + "hyperheparinemia" "" + "Frey syndrome" "An autonomic disorder characterized by excessive sweating of the forehead, upper lip, perioral region, or sternum subsequent to gustatory stimuli. The auriculotemporal syndrome features facial flushing or sweating limited to the distribution of the auriculotemporal nerve and may develop after trauma to the parotid gland, in association with parotid neoplasms, or following their surgical removal. (From Ann Neurol 1997 Dec;42(6):973-5)" "" + "hyperhidrosis palmaris ET plantaris" "" + "hyperimmunoglobulin G1(A1) syndrome" "" + "hyperkeratosis lenticularis perstans" "" + "hyperkeratosis-hyperpigmentation syndrome" "Hyperkeratosis-hyperpigmentation syndrome describes a very rare hyperpigmentation of the skin characterized by tiny hyperpigmented spots mainly on skin exposed to sunlight, together with mild punctate palmoplantar papular hyperkeratosis as a major feature. There have been no further descriptions in the literature since 1993." "" + "epidermolytic palmoplantar keratoderma" "A genetic skin disorder caused by mutations in the KRT9 gene. It is characterized by hyperkeratosis in the palms and soles resulting in abnormal thickening of the skin in these areas." "" + "autosomal dominant isolated diffuse palmoplantar keratoderma" "Autosomal dominant form of isolated diffuse palmoplantar keratoderma." "" + "hyperlipidemia, familial combined, LPL related" "" + "hyperlipoproteinemia, type II, and deafness" "" + "hyperlipoproteinemia type IV" "A laboratory test result indicating an autosomal dominant condition in which there is increased very low density lipoprotein production, which leads to increased triglyceride concentration." "" + "hyperlipoproteinemia type V" "A severe type of hyperlipidemia, sometimes familial, that is characterized by the elevation of both plasma chylomicrons and triglycerides contained in very-low-density lipoproteins. Type V hyperlipoproteinemia is often associated with diabetes mellitus and is not caused by reduced lipoprotein lipase activity as in hyperlipoproteinemia type I." "" + "major hypertriglyceridemia" "Major hypertriglyceridemia comprises a group of endocrine diseases characterized by permanently high levels of triglycerides (TG) in the blood (higher than 4g/L after 12 hours of fasting) and an increased risk of acute pancreatitis, making screening essential." "" + "autosomal dominant osteosclerosis, Worth type" "Worth type autosomal dominant osteosclerosis is a sclerozing bone disorder characterized by generalized skeletal densification, particularly of the cranial vault and tubular long bones, which is not associated to an increased risk of fracture." "" + "hyperostosis cranialis interna" "" + "Morgagni-Stewart-Morel syndrome" "Morgagni-Stewart-Morel syndrome is characterised by thickening of the inner table of the frontal bone, sometimes associated with obesity and hypertrichosis. It mainly affects women over 35 years of age. The prevalence and clinical significance of hyperostosis frontalis interna is unknown. Transmission is either X-linked or autosomal dominant." "" + "hyperparathyroidism 1" "" + "familial isolated hyperparathyroidism" "A rare, autosomal dominant hereditary syndrome characterized by hypercalcemia, abnormally high levels of parathyroid hormone, and isolated hyperfunctioning parathyroid tumors." "" + "hyperparathyroidism 2 with jaw tumors" "An autosomal dominant inherited syndrome characterized by the development of parathyroid adenoma or carcinoma, ossifying fibroma of the mandible and maxilla, renal neoplasms, and renal cysts." "" + "hyperpigmentation of eyelid" "Over-production of pigment in the eyelid." "" + "hyperpigmentation of Fuldauer and Kuijpers" "" + "hyperpigmentation with or without hypopigmentation, familial progressive" "" + "familial progressive hyperpigmentation" "Familial progressive hyperpigmentation is a rare, genetic, skin pigmentation anomaly disorder characterized by irregular patches of hyperpigmented skin which present at birth or in early infancy and increase in size, number and confluence with age. Affected areas of the body include the face, neck, trunk and limbs, as well as the palms, soles, oral mucosa and conjuctiva. No hypogmentation macules are observed and no systemic diseases are associated." "" + "pseudohypoaldosteronism type 2A" "" + "pseudohypoaldosteronism type 2" "Pseudohypoaldosteronism type 2 (PHA2) is a rare inherited form of hypertension characterized by hyperkalemia, hyperchloremic metabolic acidosis, normal or elevated aldosterone, low renin, and normal renal function." "" + "hyperproglucagonemia" "" + "hyperreflexia" "An abnormal response to a stimulus applied to the sensory components of the nervous system. This may take the form of increased, decreased, or absent reflexes." "" + "hypersecretion of adrenal androgens, familial" "" + "hypersensitivity pneumonitis, familial" "An instance of hypersensitivity pneumonitis that is caused by an inherited modification of the individual's genome." "" + "hypertaurinuric cardiomyopathy" "" + "obsolete hypertelorism" "A condition in which there is an abnormally increased distance between two organs or bodily parts; most often, this term is referring to an increased distance between the orbits (orbital hypertelorism)." "" "true" + "autosomal dominant Opitz G/BBB syndrome" "Autosomal dominant form of Opitz G/BBB syndrome." "" + "Opitz G/BBB syndrome" "Opitz G/BBB syndrome (OS) is a multiple congenital anomalies disorder characterized by malformations of the midline including hypertelorism, laryngo-tracheo-esophalgeal defects and hypospadias. There are two clinically indistinguishable genetic subtypes of Opitz G/BBB: X-linked Opitz G/BBB syndrome (XLOS), and autosomal dominant Opitz G/BBB syndrome (ADOS)." "" + "hypertelorism, Teebi type" "Teebi type hypertelorism is a rare genetic disease characterized by hypertelorism with facial features that can closely resemble craniofrontonasal dysplasia, such as prominent forehead, widow's peak, heavy and broad eyebrows, long palpebral fissures, ptosis, high and broad nasal bridge, short nose, low-set ears, natal teeth, thin upper lip and a grooved chin, as well as limb (i.e. fifth-finger clinodactyly, pes adductus, mild interdigital webbing), urogenital (i.e. bilateral cryptorchidism and shawl scrotum in males) and umbilical (i.e. hernia/small omphalocele) anomalies and cardiac (i.e. ventricular or atrial septal defect, patent ductus arteriosus) defects. Additional findings such as polycystic kidneys and iridochorioretinal colobomas have also been reported and psychomotor development is normal. The facial features can also resemble Aarskog and Opitz G/BBB syndromes." "" + "essential hypertension, genetic" "An instance of essential hypertension that is caused by a modification of the individual's genome." "" + "hyperthermia, cutaneous, with headaches and nausea" "" + "malignant hyperthermia, susceptibility to, 1" "Any malignant hyperthermia of anesthesia in which the cause of the disease is a mutation in the RYR1 gene." "" + "malignant hyperthermia of anesthesia" "Malignant hyperthermia (MH) is a pharmacogenetic disorder of skeletal muscle that presents as a hypermetabolic response to potent volatile anesthetic gases such as halothane, sevoflurane, desflurane and the depolarizing muscle relaxant succinylcholine, and rarely, to stresses such as vigorous exercise and heat." "" + "selective pituitary resistance to thyroid hormone" "Pituitary resistance to thyroid hormone is a rare, genetic thyroid disease, due to reduced pituitary gland responsiveness to thyroid hormone, characterized by mild to moderate hyperthyroidism in association with elevated circulating thyroid hormone levels, normal or elevated thyroid stimulating hormone, and no abnormalities of the pituitary gland on MRI. Patients present with diffuse large goiter, tachycardia, atrial fibrillation, weight loss and/or heat intolerance/perspiration, but no exophthalmos or anterior tibial mixedema." "" + "resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta" "" + "hyperthyroxinemia, dystransthyretinemic" "" + "obsolete hypertrichosis lanuginosa congenita" "" "true" + "Ambras type hypertrichosis universalis congenita" "Congenital generalized hypertrichosis, Ambras type is an extremely rare type of hypertrichosis lanuginosa congenita, a congenital skin disease, that is characterized by the presence of vellus-type hair on the entire body, especially on the face, ears and shoulders, with the exception of palms, soles, and mucous membranes. Facial and dental anomalies can also be observed, such as triangular, coarse face, bulbous nasal tip, long palpebral fissures, delayed tooth eruption and absence of teeth." "" + "hypertrichosis lanuginosa congenita" "Hypertrichosis lanuginosa congenita is a rare congenital skin disease characterized by the presence of 3 to 5cm long lanugo-type hair on the entire body, with the exception of palms, soles, and mucous membranes." "" + "hypertriglyceridemia, familial" "An instance of hypertriglyceridemia (disease) that is caused by an inherited modification of the individual's genome." "" + "hypertrophia musculorum vera" "" + "Charcot-Marie-Tooth disease type 3" "" + "autosomal dominant hereditary demyelinating motor and sensory neuropathy" "" + "autosomal recessive hereditary demyelinating motor and sensory neuropathy" "" + "familial hypocalciuric hypercalcemia 1" "Any familial hypocalciuric hypercalcemia in which the cause of the disease is a mutation in the CASR gene." "" + "familial hypocalciuric hypercalcemia" "Familial hypocalciuric hypercalcemia (FHH) is a generally asymptomatic genetic disorder of phosphocalcic metabolism characterized by lifelong moderate hypercalcemia along with normo- or hypocalciuria and elevated plasma parathyroid hormone (PTH) concentration." "" + "familial hypocalciuric hypercalcemia 2" "A familial hypocalciuric hypercalcemia that has material basis in heterozygous mutation in the GNA11 gene on chromosome 19p13." "" + "hypochondroplasia" "Hypochondroplasia is characterized by disproportionate short stature, mild lumbar lordosis and limited extension of the elbow joints." "" + "hypogonadotropic hypogonadism 7 with or without anosmia" "A hypogonadotropic hypogonadism that has material basis in homozygous or compound heterozygous mutation in the GNRHR gene on chromosome 4q13, sometimes in association with mutation in another gene. No patients with anosmia have been reported." "" + "hypogonadotropic hypogonadism" "Abnormal ovarian or testicular function due to insufficient hormonal stimulation from the hypothalamic-pituitary axis." "" + "hypogonadotropic hypogonadism 14 with or without anosmia" "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the WDR11 gene." "" + "hypogonadotropic hypogonadism 17 with or without anosmia" "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the SPRY4 gene." "" + "hypogonadotropic hypogonadism 18 with or without anosmia" "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the IL17RD gene." "" + "hypogonadotropic hypogonadism 19 with or without anosmia" "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the DUSP6 gene." "" + "hypogonadotropic hypogonadism 20 with or without anosmia" "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FGF17 gene." "" + "hypogonadotropic hypogonadism 21 with or without anosmia" "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FLRT3 gene." "" + "hypogonadotropic hypogonadism 22 with or without anosmia" "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FEZF1 gene." "" + "mullerian duct anomalies-limb anomalies syndrome" "Mullerian duct anomalies-limb anomalies syndrome is characterised by the association of mullerian duct and distal limb anomalies. It has been described in five individuals from one family. Females presented with anomalies ranging from a vaginal septum to complete duplication of uterus and vagina, and males presented with micropenis. The limb anomalies varied from postaxial polydactyly to severe upper limb hypoplasia with split hand. The mode of transmission is autosomal dominant." "" + "hypoparathyroidism, familial isolated 1" "" + "familial hypoparathyroidism" "A rare heterogeneous group of metabolic disorders characterized by abnormal calcium metabolism due to deficient secretion of parathormone (PTH), without other endocrine disorders or developmental defects." "" + "hypoparathyroidism-deafness-renal disease syndrome" "The HDR syndrome is an inherited condition consisting of hypoparathyroidism, sensorineural deafness and renal disease." "" + "partial deletion of the short arm of chromosome 10" "" + "obsolete adult hypophosphatasia" "Adult hypophosphatasia (A-HPP) is a mildform of hypophosphatasia characterized by osteomalacia, chondrocalcinosis, osteoarthropathy, stress fractures duringmiddle age, and dental anomalies." "" "true" + "hypophosphatemic bone disease" "" + "chromosome 18p deletion syndrome" "Monosomy 18p refers to a chromosomal disorder resulting from the deletion of all or part of the short arm of chromosome 18." "" + "partial deletion of chromosome 18" "" + "obsolete hypoplasia of teeth roots" "" "true" + "hypospadias 3, autosomal" "" + "primary orthostatic hypotension" "Primary orthostatic hypotension is a rare type of orthostatic hypotension. It is not a disease per se, but a condition caused by several disorders that affect a specific part of the autonomic nervous system, such as multiple system atrophy, young-onset Parkinson's disease, pure autonomic failure, dopamine beta-hydroxylase deficiency, familial dysautonomia, and pure autonomic failure among others. The autonomic nervous system is the part of the nervous system that regulates certain involuntary body functions such as heart rate, blood pressure, sweating, and bowel and bladder control. Orthostatic hypotension is a form of low blood pressure that happens when standing-up from sitting or lying down. Common symptoms may include dizziness, lightheadedness, generalized weakness, leg buckling, nausea, blurry vision, fatigue, and headaches. Additional symptoms can include chest pain (angina), head and neck pain (often affecting neck and shoulders with a coat hanger distribution), decline in cognitive functioning such as difficulty concentrating, temporary loss of consciousness or “blackout”. Some people with primary orthostatic hypotension may also have high blood pressure when lying down. The treatment depends upon several factors including the specific underlying cause including The treatment depends upon several factors including the specific underlying cause and may include physical counter-maneuvers like lying down, sitting down, squatting clenching buttocks, leg crossing, and support garment and medication." "" + "Pallister-Hall syndrome" "Pallister-Hall syndrome (PHS), a pleiotropic autosomal dominant malformative disorder, is characterized by hypothalamic hamartoma, pituitary dysfunction, bifid epiglottis, polydactyly, and, more rarely, renal abnormalities and genitourinary malformations." "" + "disease associated with non-acquired combined pituitary hormone deficiency" "True" + "hypotrichosis 2" "Any hypotrichosis in which the cause of the disease is a mutation in the CDSN gene." "" + "hypotrichosis simplex of the scalp" "Hypotrichosis simplex of the scalp (HSS) is characterized by diffuse progressive hair loss that is confined to the scalp." "" + "hypotrichosis 4" "Any hypotrichosis in which the cause of the disease is a mutation in the HR gene." "" + "Marie Unna hereditary hypotrichosis" "Marie Unna hereditary hypotrichosis (MUHH) is a rare autosomal dominant hair loss disorder characterized by the absence or scarcity of scalp hair, eyebrows, and eyelashes at birth; coarse and wiry hair during childhood; and progressive hair loss beginning around puberty." "" + "hypoxanthine guanine phosphoribosyltransferase suppressor" "" + "ichthyosis hystrix of Curth-Macklin" "Ichthyosis hystrix of Curth-Macklin (IHCM) is a rare type of keratinopathic ichthyosis that is characterized by the presence of severe hyperkeratotic lesions and palmoplantar keratoderma (PPK)." "" + "ichthyosis hystrix gravior" "" + "autosomal dominant ichthyosis vulgaris" "Ichthyosis vulgaris is a common skin disorder passed down through families that leads to dry, scaly skin. It often begins in early childhood. Treatment may include heavy duty moisturizers which contain chemicals that help the skin to shed normally, including lactic acid, salicylic acid, and urea. Ichthyosis vulgaris can be a nuisance, but it rarely affects overall health. The condition usually disappears during adulthood, but may return in later years. This condition is inherited in an autosomal dominant pattern." "True" + "ichthyosis vulgaris" "The most common form of ichthyosis. It is an autosomal dominant inherited or acquired disorder characterized by scaling and desquamation of the skin." "" + "ichthyosis-cheek-eyebrow syndrome" "Ichthyosis-cheek-eyebrow syndrome is characterised by ichthyosis, prominent full cheeks and sparse lateral eyebrows. It has been described in several individuals from four generations of one family. Transmission is autosomal dominant." "" + "autosomal ichthyosis syndrome" "" + "ichthyosis, lamellar, autosomal dominant" "" + "lamellar ichthyosis" "A keratinization disorder characterized by the presence of large scales all over the body without significant erythroderma." "" + "superficial epidermolytic ichthyosis" "Superficial epidermolytic ichthyosis (SEI) is a rare keratinopathic ichthyosis (KI) characterized by the presence of superficial blisters and erosions at birth." "" + "exfoliative ichthyosis" "Exfoliative ichthyosis is an inherited, non-syndromic, congenital ichthyosis characterized by the infancy-onset of palmoplantar peeling of the skin (aggravated by exposure to water and by occlusion) associated with dry, scaly skin over most of the body. Pruritus and hypohidrosis may also be associated. Well-demarcated areas of denuded skin appear in moist and traumatized regions and skin biopsies reveal reduced cell-cell adhesion in the basal and suprabasal layers, prominent intercellular edema, numerous aggregates of keratin filaments in basal keratinocytes, attenuated cornified cell envelopes, and epidermal barrier impairment." "" + "ichthyosis" "Disorders of cornification that are characterized by visible scaling and/or hyperkeratosis of most or all of the skin. Inherited ichthyoses, defined as the generalized form of Mendelian disorders of cornification, affect most or all of the skin. This etiologically and phenotypically heterogenous group of conditions is caused by mutations in various different genes important for keratinocyte differentiation and epidermal barrier function. Acquired forms of ichthyosis can be observed with certain autoimmune, inflammatory, metabolic, endocrine, or infectious diseases or with malignancies." "" + "immune deficiency, familial variable" "" + "common variable immunodeficiency" "Common variable immunodeficiency (CVID) comprises a heterogeneous group of diseases characterized by a significant hypogammaglobulinemia of unknown cause, failure to produce specific antibodies after immunizations and susceptibility to bacterial infections, predominantly caused by encapsulated bacteria." "" + "obsolete immunodeficiency with defective leukocyte and lymphocyte function and with response to histamine-1 antagonist" "" "true" + "immune suppression" "" + "IgE responsiveness, atopic" "Immediate hypersensitivity reaction - type I reaction, involves immunoglobulin E (IgE)-mediated release of chemical mediators from mast cells and basophils. Th2 cells produce IL-4 and IL-13, which then act on B cells to promote the production of antigen-specific IgE. Reexposure to the antigen can then result in the antigen binding to and cross-linking the bound IgE antibodies on the mast cells and basophils. This causes the release of preformed mediators (histamine, tryptase, tryptase, chemotactic factors), newly synthesized mediators (leukotrienes, prostaglandin, thromboxane, platelet-activating factor, adenosine, bradykinin), and cytokines from these cells that results in structural and functional changes to the affected tissue." "" + "Hyper-IgE recurrent infection syndrome 1" "A condition of decreased or absent presence or activity of signal transducer and activator of transcription 3 protein. Deficiency of this protein is associated with hyper-IgE syndrome." "" + "hyper-IgE syndrome" "A condition that is characterized by elevated serum IgE, dermatitis, and respiratory infections." "" + "immune deficiency with skin involvement" "True" + "solitary median maxillary central incisor syndrome" "A hereditary autosomal dominant condition characterized primarily by single (unpaired) deciduous and permanent maxillary central incisors and short stature. Growth hormone deficiencies may also be present. Mutations in the SHH gene have been identified." "" + "microform holoprosencephaly" "Microform holoprosencephaly is a benign form of holoprosencephaly (HPE) characterized by midline defects without the typical HPE defect in brain cleavage." "" + "fused mandibular incisors" "Fused manidbular incisors is an extremely rare dental anomaly that is characterized by the union of two, normally separated, incisor tooth germs of the primary dentition. It is frequently associated with hypodontia and an increased risk of pulp exposure." "" + "obsolete immunoglobulin switch sequences" "" "true" + "incisors, long upper central" "True" + "insulin receptors, familial increase 1N" "True" + "incisors, lower central, absence of" "" + "incisors, rotation of upper central" "" + "incisors, shovel-shaped" "" + "inclusion body myositis" "Inclusion body myositis (IBM) is a slowly progressive degenerative inflammatory disorder of skeletal muscles characterized by late onset weakness of specific muscles and distinctive histopathological features." "" + "indifference to pain, congenital, autosomal dominant" "" + "cholestasis, intrahepatic, of pregnancy, 1" "" + "familial intrahepatic cholestasis" "An instance of intrahepatic cholestasis that is caused by an inherited modification of the individual's genome." "" + "intrahepatic cholestasis of pregnancy" "A cholestatic disorder characterized by (i) pruritus with onset in the second or third trimester of pregnancy, (ii) elevated serum aminotransferases and bile acid levels, and (iii) spontaneous relief of signs and symptoms within two to three weeks after delivery." "" + "intrahepatic cholestasis" "Intrahepatic cholestasis of pregnancy (ICP) is a cholestatic disorder characterized by (i) pruritus with onset in the second or third trimester of pregnancy, (ii) elevated serum aminotransferases and bile acid levels, and (iii) spontaneous relief of signs and symptoms within two to three weeks after delivery." "" + "insensitivity to pain with hyperplastic Myelinopathy" "" + "insect Stings, hypersensitivity to" "" + "interferon antiviral depressor" "" + "iris pigment layer, cleavage of" "" + "islet cell adenomatosis" "A sporadic or inherited disorder characterized by the focal or diffuse proliferation of the cells of the islets of Langerhans in the pancreas. It results in hyperinsulinemia and hypoglycemia." "" + "intussusception" "Telescoping or invagination of a part of the intestine into an adjacent segment." "" + "IVIC syndrome" "IVIC syndrome is a very rare genetic malformation syndrome characterized by upper limb anomalies (radial ray defects, carpal bone fusion), extraocular motor disturbances, and congenital bilateral non-progressive mixed hearing loss." "" + "Johnson neuroectodermal syndrome" "Johnson neuroectodermal syndrome is characterised by alopecia, anosmia or hyposmia, conductive deafness with malformed ears and microtia and/or atresia of the external auditory canal, and hypogonadotropic hypogonadism." "" + "Jacobsen syndrome" "Jacobsen syndrome is a multiple congenital anomaly/mental retardation (MCA/MR) contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11." "" + "partial deletion of the long arm of chromosome 11" "A cytogenetic abnormality that refers to the allelic loss of all or part of the long arm of chromosome 11." "" + "syndromic constitutional thrombocytopenia" "" + "Aase-Smith syndrome" "Aase-Smith syndrome type I is a very rare genetic disorder characterised by the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate, and severe joint contractures." "" + "internal carotid artery, spontaneous dissection of" "" + "coxopodopatellar syndrome" "Small patella syndrome (SPS) is a very rare benign bone dysplasia affecting skeletal structures of the lower limb and the pelvis." "" + "patellar dysostosis" "" + "Ehlers-Danlos syndrome type 11" "Ehlers-Danlos syndrome, type 11, is characterised by generalized joint hypermobility often complicated by dislocation of major joints, particularly the shoulder but in some cases the kneecap. Congenital hip dislocation has also been frequently reported. The syndrome has been described in several families. It is transmitted as an autosomal dominant trait, with high penetrance." "" + "Kabuki syndrome 1" "" + "Kabuki syndrome" "Kabuki syndrome (KS) is a multiple congenital anomaly syndrome characterized by typical facial features, skeletal anomalies, mild to moderate intellectual disability and postnatal growth deficiency." "" + "hypogonadotropic hypogonadism 2 with or without anosmia" "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FGFR1 gene." "" + "Kallmann syndrome" "Kallmann syndrome (KS) is a developmental genetic disorder characterized by the association of congenital hypogonadotropic hypogonadism (CHH) due to gonadotropin-releasing hormone (GnRH) deficiency, and anosmia or hyposmia (with hypoplasia or aplasia of the olfactory bulbs)." "" + "Kaposi sarcoma, susceptibility to" "" + "KBG syndrome" "KBG syndrome is a rare condition characterised by a typical facial dysmorphism, macrodontia of the upper central incisors, skeletal (mainly costovertebral) anomalies and developmental delay." "" + "keloid formation" "" + "autosomal dominant keratitis" "Hereditary keratitis is characterised by opacification and vascularisation of the cornea, often associated with macula hypoplasia." "" + "keratitis fugax hereditaria" "" + "autosomal dominant keratitis-ichthyosis-hearing loss syndrome" "Autosomal dominant form of KID syndrome." "" + "KID syndrome" "Keratitis (and hystrix-like) ichthyosis deafness (KID/HID) syndrome is a rare congenital ectodermal disorder characterized by vascularizing keratitis, hyperkeratotic skin lesions and hearing loss." "" + "keratoconus 1" "Any keratoconus in which the cause of the disease is a mutation in the VSX1 gene." "" + "palmoplantar keratoderma-deafness syndrome" "Palmoplantar keratoderma-deafness syndrome is a keratinization disorder characterized by focal or diffuse palmoplantar keratoderma. A patchy distribution is observed with accentuation on the thenars, hypothenars and the arches of the feet. The disease becomes apparent in infancy and is associated with sensorineural hearing loss that shows a variable age of onset. Due to genetic and clinical similarities, it has been proposed that palmoplantar keratoderma-deafness syndrome, knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome and keratoderma hereditarium mutilans may represent variants of one broad disorder of syndromic deafness with heterogeneous phenotype. The disease is transmitted in an autosomal dominant manner with incomplete penetrance." "" + "palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome" "" + "autosomal dominant hereditary axonal motor and sensory neuropathy" "" + "keratolytic winter erythema" "Keratolytic winter erythema is a rare epidermal disease, characterized by recurrent centrifugal palmoplantar peeling and erythema presenting seasonal variation (cold weather). Skin lesions may spread to the dorsum of hands and feet and to the interdigital spaces. Lower legs, knees and thighs may also be involved. Episodes may be preceded by itch and hyperhidrosis. Skin biopsy reveals an epidermal spongiosis with clefting in the stratum corneum, followed by regrowth. Keratolytic winter erythema follows an autosomal dominant mode of transmission." "" + "keratosis, familial actinic" "" + "palmoplantar keratoderma-esophageal carcinoma syndrome" "Tylosis with esophageal cancer (TOC) is an inherited condition characterized by palmoplantar keratoderma and esophageal cancer. The palmoplantar keratoderma usually begins around age 10, and esophageal cancer may form after age 20. This condition is caused by a mutation in the RHBDF2 gene and is inherited in an autosomal dominant pattern." "" + "focal palmoplantar keratoderma" "" + "keratosis palmaris et plantaris-clinodactyly syndrome" "Keratosis palmaris et plantaris-clinodactyly syndrome is characterised by the association of palmoplantar keratosis with clinodactyly of the fifth finger. Less than 20 cases have been described in the literature so far, and the majority of reported patients were of Mexican origin. Transmission is autosomal dominant." "" + "palmoplantar keratoderma, punctate type 1A" "Any punctate palmoplantar keratoderma in which the cause of the disease is a mutation in the AAGAB gene." "" + "punctate palmoplantar keratoderma" "A palmoplantar keratosis characterized by keratoses with a \"raindrop\" pattern on the palmoplantar surface, skin lesions which may involve the whole of the palmoplantar surface, or may be more restricted in their distribution." "" + "punctate palmoplantar keratoderma type 1" "Punctate palmoplantar keratoderma type I (PPKP1), also known as Buschke-Fischer-Brauer syndrome, is a very rare hereditary skin disease characterized by irregularly distributed epidermal hyperkeratosis of the palms and soles with wide variation among patients.." "" + "palmoplantar keratoderma i, striate, focal, or diffuse" "" + "hereditary palmoplantar keratoderma" "An instance of palmoplantar keratosis that is caused by an inherited modification of the individual's genome." "" + "striate palmoplantar keratoderma" "Striate palmoplantar keratoderma is an isolated, focal, hereditary palmoplantar keratoderma characterized by linear hyperkeratosis along the flexor aspect of the fingers and on palms, as well as focal hyperkeratosis of the plantar skin. Patients present with painful thickening of the skin on palms and soles, with occasional fissuring, blistering and hyperhidrosis. Rarely, hyperkeratosis on other areas may be seen (knees, dorsal aspects of the digits). Histopatologically, widened intercellular spaces between keratinocytes are observed." "" + "focal palmoplantar and gingival keratoderma" "Focal palmoplantar and gingival keratoderma is a very rare form of focal palmoplantar keratoderma characterized by painful circumscribed hyperkeratotic lesions on weight-bearing areas of soles, moderate focal hyperkeratosis of palmar pressure-related areas and an asymptomatic leukokeratosis confined to labial- and lingual- attached gingiva. Additional occasional features may include hyperhidrosis, follicular keratosis and extended oral mucosa involvement." "" + "isolated cloverleaf skull syndrome" "Isolated cloverleaf skull syndrome is a form of craniosynostosis involving multiple sutures (coronal, lambdoidal, sagittal and metopic) characterized by a trilobular skull of varying severity (frontal towering and bossing, temporal bulging and a flat posterior skull), dysmorphic features (downslanting palpebral fissures, midface hypoplasia, and extreme proptosis) and that is complicated by hydrocephalus, cerebral venous hypertension, developmental delay/intellectual disability and hind brain herniation." "" + "isolated craniosynostosis" "A craniosynostosis that is not part of a larger syndrome." "" + "Waardenburg syndrome type 3" "Waardenburg syndrome type 3 (WS3) is a very rare subtype of Waardenburg syndrome (WS) that is characterized by limb anomalies in association with congenital hearing loss, minor defects in structures arising from neural crest, resulting in pigmentation anomalies of eyes, hair, and skin." "" + "Waardenburg syndrome" "Waardenburg syndrome (WS) is a disorder characterized by varying degrees of deafness and minor defects in structures arising from neural crest, including pigmentation anomalies of eyes, hair, and skin. WS is classified into four clinical and genetic phenotypes." "" + "Kleine-Levin syndrome" "Kleine-Levin syndrome (KLS) is a rare neurological disorder of unknown origin characterised by relapsing-remitting episodes of hypersomnia in association with cognitive and behavioural disturbances." "" + "angioosteohypertrophic syndrome" "Angio-osteohypertrophic (AOH) syndrome is a congenital vascular bone syndrome (CVBS) characterized by the presence of a vascular malformation in a limb, mainly of the arteriovenous type, which results in overgrowth of the affected limb." "" + "knuckle pads" "" + "Bart-Pumphrey syndrome" "" + "nonsyndromic congenital nail disorder 2" "" + "hyperekplexia 1" "A hyperekplexia that has material basis in heterozygous, homozygous, or compound heterozygous mutation in the GLRA1 gene on chromosome 5q32." "" + "hereditary hyperekplexia" "Hereditary hyperekplexia is a hereditary neurological disorder characterized by excessive startle responses." "" + "Kyrle disease" "Kyrle disease is rare condition that affects the skin. People with this condition generally develop large papules with central keratin (a protein found in the skin, hair and nails) plugs throughout their body. These lesions are typically not painful but may cause severe itching. Although it can affect both men and women throughout life, the average age of onset is 30 years. The cause of the disease is currently unknown; however, it is often associated with certain conditions such as diabetes mellitus, kidney disease, liver abnormalities, and congestive heart failure. In some families, the condition appears to be inherited but an underlying genetic cause has not been identified. Treatment aims to address the associated signs and symptoms and any additional disease that may be present. Lesions often heal spontaneously but new ones continue to develop." "" + "labia minora, incomplete adhesion of" "" + "familial congenital nasolacrimal duct obstruction" "" + "excretory apparatus of the lacrimal system anomaly" "" + "LADD syndrome" "Lacrimoauriculodentodigital (LADD) syndrome is a multiple congenital anomaly syndrome characterized by hypoplasia, aplasia or atresia of the lacrimal system; anomalies of the ears and hearing loss; hypoplasias, apalsias or atresias of the salivary glands; dental anomalies and digital malformations." "" + "lactic acidosis, chronic adult form" "" + "trichorhinophalangeal syndrome type II" "Langer-Giedon syndrome, also known as trichorhinophalangeal syndrome type 2, is a very rare, genetic, multiple congenital anomaly disorder characterized by bone abnormalities, distinctive facial features, multiple exostoses, and intellectual disability." "" + "partial deletion of the long arm of chromosome 8" "Chromosome 8q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 8. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 8q deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person." "" + "trichorhinophalangeal syndrome" "" + "trichorhinophalangeal syndrome type I or III" "Trichorhinophalangeal syndromes (TRPS) type 1 and 3 are malformation syndromes characterized by short stature, sparse hair, a bulbous nasal tip and cone-shaped epiphyses, as well as severe generalized shortening of all phalanges, metacarpals and metatarsal bones." "" + "Larsen syndrome" "Larsen syndrome (LS) is a rare skeletal dysplasia characterized by congenital dislocation of large joints, foot deformities, cervical spine dysplasia, scoliosis, spatula-shaped distal phalanges and distinctive craniofacial abnormalities, including cleft palate." "" + "laryngeal abductor paralysis" "" + "laryngeal abductor paralysis-intellectual disability syndrome" "Laryngeal abductor paralysis-intellectual disability syndrome is characterised by congenital and permanent laryngeal abductor paralysis, associated, in the majority of cases, with intellectual deficit. It has been described in several families. X-linked inheritance is likely." "" + "larynx anomaly" "" + "laryngeal adductor paralysis" "" + "congenital laryngomalacia" "Increased collapsibility of the larynx." "" + "larynx atresia" "A congenital malformation of the larynx in which there is failure of recanalization of the laryngotracheal tube during gestation." "" + "congenital laryngeal web" "Congenital laryngeal web is a rare malformation consisting of a membrane-like structure that extends across the laryngeal lumen close to the level of the vocal cords." "" + "tooth agenesis, selective, 4" "Any tooth agenesis in which the cause of the disease is a mutation in the WNT10A gene." "" + "ectodermal dysplasia WNT10A related" "" + "lattice degeneration of retina leading to retinal detachment" "" + "periodic fever, immunodeficiency, and thrombocytopenia syndrome" "" + "leg ulcers, familial, of juvenile onset" "" + "Legg-Calve-Perthes disease" "A hip region disease that is characterized by uni- or bilateral avascular necrosis (AVN) of the femoral head in children. In a small percentage of cases, mutations in the COL2A1 gene were found to be responsible." "" + "hip region disorder" "A disease or disorder that involves the hip." "True" + "obsolete type 2 collagen-related bone disorder" "" "true" + "leiomyoma of vulva and esophagus" "" + "X-linked diffuse leiomyomatosis-Alport syndrome" "The association of X-linked Alport syndrome with leiomyomatosis of the esophagus, tracheobronchial tree or female genitals has been reported in more than 30 families." "" + "hereditary leiomyomatosis and renal cell cancer" "Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a hereditary cancer syndrome characterized by a predisposition to cutaneous and uterine leiomyomas and, in some families, to renal cell cancer." "" + "obsolete lentigines" "" "true" + "lentiginosis, centrofacial neurodysraphic" "" + "familial generalized lentiginosis" "Familial generalized lentiginosis is a rare, inherited, skin hyperpigmentation disorder characterized by widespread lentigines without associated noncutaneous abnormalities. Patients present multiple brown to dark brown, non-elevated macula of 0.2 to 1 cm in diameter, spread over the entire body, sometimes including palms or soles, but never oral mucosa." "" + "Lenz-Majewski hyperostotic dwarfism" "Lenz-Majewski hyperostotic dwarfism is an extremely rare syndrome associating dwarfism, characteristic facial appearance, cutis laxa and progressive bone sclerosis." "" + "Noonan syndrome with multiple lentigines" "Noonan syndrome with multiple lentigines (NSML), previously known as LEOPARD syndrome, is a rare multisystem genetic disorder characterized by lentigines, hypertrophic cardiomyopathy, short stature, pectus deformity, and dysmorphic facial features." "" + "Noonan syndrome and Noonan-related syndrome" "" + "palpebral lentiginosis" "A lentigo that involves the skin of eyelid." "" + "Leri pleonosteosis" "Leri pleonosteosis is characterized by broadening and deformity of the thumbs and great toes in a valgus position (a 'spade-shaped' appearance), flexion contracture of the interphalangeal joints, generalized limitation of joint mobility, short stature, and often mongoloid facies. Additional malformations include genu recurvatum, enlargement of the posterior neural arches of the cervical vertebrae, and thickening of the palmar and forearm fasciae. A few multigenerational families have been reported so far. The disease is inherited in an autosomal dominant manner." "" + "platyspondylic dysplasia, Torrance type" "" + "spondylodysplastic dysplasia" "" + "obsolete leukemia, chronic lymphocytic" "" "true" + "leukocyte nuclear appendages, hereditary prevalence of" "" + "nonsyndromic congenital nail disorder 3" "Any inherited isolated nail anomaly in which the cause of the disease is a mutation in the PLCD1 gene." "" + "pachyonychia congenita" "Pachyonychia congenita (PC) is a rare genodermatosis predominantly featuring painful palmoplantar keratoderma, thickened nails, cysts and whitish oral mucosa." "" + "levator-medial rectus synkinesis" "" + "lichen planus, familial" "An instance of lichen planus that is caused by an inherited modification of the individual's genome." "" + "Li-Fraumeni syndrome 1" "Any Li-Fraumeni syndrome in which the cause of the disease is a mutation in the TP53 gene." "" + "Li-Fraumeni syndrome" "Li-Fraumeni syndrome (LFS) is a rare cancer predisposition syndrome characterized by the early-onset of multiple primary cancers such as breast cancer, soft tissue and bone sarcomas, brain tumors and adrenal cortical carcinoma (ACC)." "" + "median nodule of the upper lip" "Median nodule of the upper lip is a minor trait of the lip transmitted in an autosomal dominant fashion." "" + "lip, hamartomatous" "" + "familial partial lipodystrophy, Dunnigan type" "Familial Partial lipodystrophy, Dunnigan type (FPLD2) is a rare form of genetic lipodystrophy characterized by a loss of subcutaneous adipose tissue from the trunk, buttocks and limbs; fat accumulation in the neck, face, axillary and pelvic regions; muscular hypertrophy; and usually associated with metabolic complications such as insulin resistance, diabetes mellitus, dyslipidemia and liver steatosis." "" + "progeroid syndrome" "A group of rare genetic disorders which mimic physiological aging, making affected individuals appear to be older than they are." "" + "familial partial lipodystrophy" "Familial partial lipodystrophy (FPLD) is a group of rare genetic lipodystrophic syndromes characterized, in most cases, by fat loss from the limbs and buttocks, from childhood or early adulthood, and often associated with acanthosis nigricans, insulin resistance, diabetes, hypertriglyceridemia and liver steatosis." "" + "lipoma of the conjunctiva" "" + "lipoma of face" "A lipoma that involves the face." "" + "multiple symmetric lipomatosis" "Multiple symmetric lipomatosis (MSL) is a rare subcutaneous tissue disease characterized by growth of symmetric non-encapsulated masses of adipose tissue mostly around the face and neck with variable clinical repercussions (e.g. reduced neck mobility, compression of respiratory structures)." "" + "familial multiple lipomatosis" "Familial multiple lipomatosis is a rare, benign, genetic skin disease characterized by numerous, painless, encapsulated lipomas located in the subcutaneous adipose tissue of the trunk and extremities, with relative sparing of the neck and shoulders. Association with gastroduodenal lipomatosis, brain anomalies or lipomatosis, and refractory epilepsy has been reported." "" + "lipoprotein types--Lt system" "" + "lipoprotein, variant of beta" "" + "lithium transport" "" + "low density lipoprotein, variation in molecular weight of" "" + "lumbar stenosis, familial" "" + "primary intestinal lymphangiectasia" "Primary intestinal lymphangiectasia (PIL) is a rare intestinal disease characterized by dilated intestinal lacteals which cause lymph leakage into the small bowel lumen. Clinical manifestations include edema related to hypoalbuminemia (protein-losing enteropathy), asthenia, diarrhea, lymphedema and failure to thrive in children." "" + "intestinal lymphangiectasia" "Dilatation of the intestinal lymphatic system usually caused by an obstruction in the intestinal wall. It may be congenital or acquired and is characterized by diarrhea; hypoproteinemia; peripheral and/or abdominal edema; and protein-losing enteropathies." "" + "lymphedema-cerebral arteriovenous anomaly syndrome" "Lymphedema-cerebral arteriovenous anomaly syndrome is characterised by the variable association of a cerebrovascular malformation, foot lymphoedema and primary pulmonary hypertension. It has been described in a woman and four of her children." "" + "microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability" "Microcephaly with or without chorioretinopathy, lymphedema or intellectual disability (MCLID) is a rare autosomal dominant condition characterized by variable expression of microcephaly, ocular disorders including chorioretinopathy, congenital lymphedema of the lower limbs, and mild to moderate intellectual disability." "" + "syndrome with microcephaly as major feature" "True" + "lymphatic malformation 1" "Any hereditary lymphedema in which the cause of the disease is a mutation in the FLT4 gene." "" + "lymphatic malformation 5" "A frequent form of late-onset, primary lymphedema characterized by lower limb lymphedema typically developing during puberty." "" + "yellow nail syndrome" "Yellow nail syndrome (YNS) is a very rare syndromic disorder characterized by the variable triad of characteristic yellow nails, chronic respiratory manifestations, and primary lymphedema." "" + "lymphedema-distichiasis syndrome" "Lymphedema - distichiasis is a rare syndromic lymphedema disorder characterized by lower-limb lymphedema and varying degrees of abnormal growth of eyelashes from the orifices of the Meibomian glands (distichiasis), with occasional associated manifestations." "" + "macrocephaly, benign familial" "" + "Bannayan-Riley-Ruvalcaba syndrome" "Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare congenital disorder characterized by hamartomatous intestinal polyposis, lipomas, macrocephaly and genital lentiginosis." "" + "intestinal polyposis syndrome" "" + "PTEN hamartoma tumor syndrome" "A group of clinically heterogeneous disorders united by a germline PTEN mutation and the involvement of derivatives of all 3 germ cell layers, manifesting with hamartomas, overgrowth and neoplasia. Currently, subsets carrying clinical diagnoses of Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, Proteus and Proteus-like syndromes and SOLAMEN syndrome belong to PHTS." "" + "genetic intestinal polyposis" "" + "chromosome 5q deletion syndrome" "A myelodysplastic syndrome characterized by a deletion between bands q31 and 33 on chromosome 5. The number of blasts in the bone marrow and blood is <5%. The bone marrow is usually hypercellular or normocellular with increased number of often hypolobated megakaryocytes. The peripheral blood shows macrocytic anemia. This syndrome occurs predominantly but not exclusively in middle age to older women. The prognosis is good and transformation to acute leukemia is rare. (WHO, 2001)" "" + "partial deletion of the long arm of chromosome 5" "" + "myelodysplastic syndrome" "A clonal hematopoietic disorder characterized by dysplasia and ineffective hematopoiesis in one or more of the hematopoietic cell lines. The dysplasia may be accompanied by an increase in myeloblasts, but the number is less than 20%, which, according to the WHO guidelines, is the requisite threshold for the diagnosis of acute myeloid leukemia. It may occur de novo or as a result of exposure to alkylating agents and/or radiotherapy. (WHO, 2001)" "" + "obsolete Waldenstrom macroglobulinemia" "" "true" + "congenital macroglossia" "" + "obsolete Fechtner syndrome" "" "true" + "obsolete Epstein syndrome" "" "true" + "Bernard-Soulier syndrome" "Bernard Soulier syndrome (BSS) is an inherited platelet disorder characterized by mild to severe bleeding tendency, macrothrombocytopenia and absent ristocetin-induced platelet agglutination." "" + "vitelliform macular dystrophy 2" "Best vitelliform macular dystrophy (BVMD) is a genetic macular dystrophy characterized by loss of central visual acuity, metamorphopsia and a decrease in the Arden ratio secondary to an egg yolk-like lesion located in the foveal or parafoveal region." "" + "age related macular degeneration 2" "An age related macular degeneration conferred by variation in the ABCA4 gene on chromosome 1p22." "" + "vitelliform macular dystrophy 1" "" + "adult-onset foveomacular vitelliform dystrophy" "Adult-onset foveomacular vitelliform dystrophy (AOFVD) is a genetic macular dystrophy characterized by blurred vision, metamorphopsia and mild visual impairment secondary to a slightly elevated, yellow, egg yolk-like lesion located in the foveal or parafoveal region." "" + "benign concentric annular macular dystrophy" "Benign concentric annular macular dystrophy (BCAMD) is a progressive autosomal dominant macular dystrophy characterized by parafoveal hypopigmentation followed by a retinitis pigmentosa-like phenotype (nyctalopia and peripheral vision loss) with a bullBs eye configuration." "" + "cystoid macular edema" "An autosomal dominantly inherited cystoid macular edema manifesting with macular atrophy, strabismus and, sometimes, pericentral retinitis pigmentosa. It is associated with a poor visual prognosis." "" + "macular dystrophy, fenestrated sheen type" "" + "renal hypomagnesemia 2" "Autosomal dominant primary hypomagnesemia with hypocalciuria (ADPHH) is a mild form of familial primary hypomagnesemia (FPH), characterized by extreme weakness, tetany and convulsions. Secondary disturbances in calcium excretion are observed." "" + "familial primary hypomagnesemia" "A hereditary disorder that leads to a selective defect in renal or intestinal magnesium absorption, resulting in a low serum magnesium concentration." "" + "familial primary hypomagnesemia with hypocalcuria" "" + "46,XY sex reversal 4" "Sex reversal in an individual associated with a 9p24.3 deletion." "" + "46,XY complete gonadal dysgenesis" "46,XY complete gonadal dysgenesis (46,XY CGD) is a disorder of sex development (DSD) associated with anomalies in gonadal development that result in the presence of female external and internal genitalia despite the 46,XY karyotype." "" + "46,XY partial gonadal dysgenesis" "46,XY partial gonadal dysgenesis (46,XY PGD) is a disorder of sex development (DSD) associated with anomalies in gonadal development that results in genital ambiguity of variable degree ranging from almost female phenotype to almost male phenotype in a patient carrying a male 46,XY karyotype." "" + "malignant hyperthermia, susceptibility to, 2" "" + "malignant hyperthermia, susceptibility to, 3" "" + "malocclusion due to protuberant upper front teeth" "" + "Mammastatin" "" + "Nager acrofacial dysostosis" "Nager syndrome, also called Nager acrofacial dysostosis (NAFD) is a congenital malformation syndrome characterized by mandibulofacial dystosis (malar hypoplasia, micrognathia, external ear malformations) and variable preaxial limb defects." "" + "Treacher-Collins syndrome 1" "Any Treacher-Collins syndrome in which the cause of the disease is a mutation in the TCOF1 gene." "" + "mannose 6-phosphate receptor recognition defect, Lebanese type" "" + "jaw-winking syndrome" "Marcus-Gunn syndrome is characterised by ptosis associated with maxillopalpebral synkinesis." "" + "Marfan syndrome" "A disorder of the connective tissue. Connective tissue provides strength and flexibility to structures throughout the body such as bones, ligaments, muscles, walls of blood vessels, and heart valves. Marfan syndrome affects most organs and tissues, especially the skeleton, lungs, eyes, heart, and the large blood vessel that distributes blood from the heart to the rest of the body (the aorta). It is caused by mutations in the FBN1 gene, which provides instructions for making a protein called fibrillin-1. Marfan syndrome is inherited in an autosomal dominant pattern. At least 25% of cases are due to a new (de novo) mutation. Treatment is based on the signs and symptoms in each person." "" + "syndromic keratoconus" "A keratoconus (disease) that is part of a larger syndrome." "" + "marfanoid hypermobility syndrome" "" + "Marshall syndrome" "Marshall syndrome is a malformation syndrome that is characterized by facial dysmorphism, severe hypoplasia of the nasal bones and frontal sinuses, ocular involvement, early-onset hearing loss, skeletal and anhidrotic ectodermal anomalies and short stature with spondyloepiphyseal dysplasia and early-onset osteoarthritis." "" + "mastocytosis" "A clonal myeloproliferative neoplasm characterized by the proliferation and accumulation of neoplastic mast cells in one or multiple organs or organ systems. It is a heterogeneous group of neoplasms, ranging from cutaneous proliferations which may regress spontaneously, to aggressive neoplasms associated with organ failure and short survival." "" + "tumor of hematopoietic and lymphoid tissues" "" + "masticatory muscles, hypertrophy of" "" + "maxillofacial dysostosis" "" + "Binder syndrome" "A rare developmental anomaly, affecting primarily the anterior part of the maxilla and nasal complex." "" + "obsolete May-Hegglin anomaly" "" "true" + "Meckel diverticulum" "A congenital pouch in the distal ileum. It may cause painless rectal bleeding and bowel obstruction." "" + "Pai syndrome" "Pai syndrome is an idiopathic developmental disorder characterized by median cleft of the upper lip (MCL), midline polyps of the facial skin and nasal mucosa, and pericallosal lipomas. Hypertelorism with ocular anomalies are also observed, generally with normal neuropsychological development." "" + "mediosternal depigmentation line" "" + "familial medullary thyroid carcinoma" "An instance of thyroid medullary carcinoma that is caused by an inherited modification of the individual's genome." "" + "medullary thyroid gland carcinoma" "A neuroendocrine carcinoma arising from the C-cells of the thyroid gland. It is closely associated with multiple endocrine neoplasia syndromes. Approximately 10% to 20% of medullary thyroid carcinomas are familial. Patients usually present with a thyroid nodule that is painless and firm. In the majority of cases nodal involvement is present at diagnosis. Surgery is the preferred treatment for both primary lesions and recurrences. This carcinoma is generally not very sensitive to radiation and almost unresponsive to chemotherapy." "" + "multiple endocrine neoplasia type 2" "Multiple endocrine neoplasia type 2 (MEN2) is a multiple endocrine neoplasia, a polyglandular cancer syndrome characterized by the occurrence of medullary thyroid carcinoma (MTC), pheochromocytoma (PCC), in one variant, primary hyperparathyroidism (PHPT). There are three forms: MEN2A, MEN2B, and familial medullary thyroid carcinoma (FMTC)." "" + "obsolete megacystis-microcolon-intestinal hypoperistalsis syndrome" "" "true" + "megalencephaly, autosomal dominant" "" + "megalencephaly" "A congenital abnormality in which the occipitofrontal circumference is greater than two standard deviations above the mean for a given age. It is associated with hydrocephalus; subdural effusion; arachnoid cysts; or is part of a genetic condition (e.g., alexander disease; sotos syndrome)." "" + "Megalodactyly" "A condition in which a finger or toe is larger than normal size secondary to excessive growth of the anatomical structures or abnormal accumulation of substances." "" + "melanoma, cutaneous malignant, susceptibility to, 1" "" + "familial cutaneous melanoma" "An instance of cutaneous melanoma (disease) that is caused by an inherited modification of the individual's genome." "" + "familial atypical multiple mole melanoma syndrome" "" + "melanoma, cutaneous malignant, susceptibility to, 2" "Clinically atypical nevi (usually exceeding 5 mm in diameter and having variable pigmentation and ill defined borders) with an increased risk for development of non-familial cutaneous malignant melanoma. Biopsies show melanocytic dysplasia. Nevi are clinically and histologically identical to the precursor lesions for melanoma in the B-K mole syndrome. (Stedman, 25th ed)" "" + "melanoma, malignant familial intraocular" "" + "susceptibility to uveal melanoma" "" + "melanoma and neural system tumor syndrome" "Melanoma and neural system tumor syndrome is an extremely rare tumor association characterized by dual predisposition to melanoma and neural system tumors (typically astrocytoma)." "" + "melanoma tumor antigen Gp90" "" + "Melkersson-Rosenthal syndrome" "The Melkersson-Rosenthal syndrome is a rare disorder characterized by a triad of recurrent orofacial swelling, relapsing facial paralysis and fissured tongue and onset in childhood or early adolescence. It has an estimated incidence of 8/10,000. The etiology is unknown but hereditary predisposition is suspected." "" + "melorheostosis" "Melorheostosis is a rare connective tissue disorder characterized by a sclerosing bone dysplasia, usually limited to one side of the body (rarely bilateral), that manifests with pain, stiffness, joint contractures and deformities." "" + "osteopetrosis" "Osteopetrosis, also known as marble bone disease, is a descriptive term that refers to a group of rare, heritable disorders of the skeleton characterized by increased bone density on radiographs." "" + "delayed membranous cranial ossification" "Delayed membranous cranial ossification is a rare, genetic primary bone dysplasia characterized by absent ossification of calvarial bones at birth and characteristic facial dysmorphisms (frontal bossing, hypertelorism, downward-slanting palpebral fissures, proptosis, flat nasal bridge, low-set ears, midface retrusion). Patients present a soft skull at birth which, over time, progressively ossifies and in adulthood typically results in a deformed skull (with brachycephaly and prominent occiput). No other skeletal abnormalities are associated and patients have normal cognitive and motor development." "" + "mental and growth retardation with amblyopia" "" + "intellectual disability, autosomal dominant 1" "An autosomal dominant condition caused by mutation(s) in the MBD5 gene, encoding methyl-CpG-binding domain protein 5. It is characterized by severe developmental and cognitive delay, short stature, craniofacial dysmorphism, and seizures." "" + "meralgia paraesthetica, familial" "" + "meralgia paresthetica" "Meralgia paresthetica is a condition characterized by tingling, numbness and burning pain in the outer thigh. These symptoms may become worse after walking or standing. The condition generally only affects one side of the body, although both sides may be involved in up to 20% of cases. Meralgia paresthetica is caused by compression of the lateral femoral cutaneous nerve (a sensory nerve to the skin on the outer thigh). This may be associated with a variety of causes such as tight clothing, obesity, and/or pregnancy. Treatment is based on the signs and symptoms present in each person and may include medications to manage pain. In most cases, conservative treatment by wearing looser clothing and/or losing weight generally resolves symptoms." "" + "mesomelic dwarfism of hypoplastic tibia and radius type" "" + "mesomelic dysplasia, Kantaputra type" "Mesomelic dysplasia Kantaputra type (MDK) is a rare skeletal disease characterized by symmetric shortening of the middle segments of limbs and short stature." "" + "obsolete malignant mesothelioma" "" "true" + "metachondromatosis" "Metachondromatosis (MC) is a rare disorder characterized by the presence of both multiple enchondromas and osteochondroma-like lesions." "" + "metachromasia of fibroblasts" "" + "metachromatic leukodystrophy, adult-onset, with normal arylsulfatase A" "" + "metachromatic leukodystrophy" "A rare lysosomal storage disorder characterized byintralysosomal accumulation of sulfatides in various tissues, leading to progressive deterioration of motor and neurocognitive function." "" + "multiple metaphyseal dysplasia" "" + "Schmid metaphyseal chondrodysplasia" "Schmid metaphyseal chondrodysplasia is a rare disorder characterized by moderately short stature with short limbs, coxa vara, bowlegs and an abnormal gait." "" + "metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome" "Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome is characterized by metaphyseal dysplasia associated with short stature and facial dysmorphism (a beaked nose, short philtrum, thin lips, maxillary hypoplasia, dystrophic yellowish teeth) and acral anomalies (short fifth metacarpals and/or short middle phalanges of fingers two and five). It has been described in several members spanning four generations of a French-Canadian family. The syndrome is likely to be transmitted as an autosomal dominant trait." "" + "metatarsus varus, type 1" "" + "metatropic dysplasia" "Metatropic dysplasia (MTD) is a rare spondyloepimetaphyseal dysplasia characterized by a long trunk and short limbs in infancy followed by severe and progressive kyphoscoliosis causing a reversal in proportions during childhood (short trunk and long limbs) and a final short stature in adulthood." "" + "Kniest dysplasia" "Kniest dysplasia is a severe type II collagenopathy characterized by a short trunk and limbs, prominent joints and midface hypoplasia (round face with a flat nasal root)." "" + "spondylometaphyseal dysplasia" "Spondylometaphyseal dysplasias are a heterogeneous group of disorders associated with walking and growth disturbances that become evident during the second year of life." "" + "autosomal dominant primary microcephaly" "Autosomal dominant form of microcephaly (disease)." "" + "isolated congenital microcephaly" "" + "congenital microcoria" "Congenital microcoria is a rare autosomal dominant ophthalmological disease caused by maldevelopment of the dilator muscle of the pupil that is characterized by small pupils (<2 mm in diameter) from birth, peripheral iris hypopigmentation and transillumination defects leading to errors of refraction (myopia, astigmatism) and sometimes juvenile open angle glaucoma." "" + "multiple benign circumferential skin creases on limbs" "" + "microcephaly-deafness-intellectual disability syndrome" "Microcephaly-deafness-intellectual disability syndrome is characterised by microcephaly, deafness, intellectual deficit and facial dysmorphism (facial asymmetry, prominent glabella, low-set and cup-shaped ears, protruding lower lip, micrognathia). It has been described in a mother and her son. The mode of inheritance is probably autosomal dominant." "" + "microcornea-glaucoma-absent frontal sinuses syndrome" "Microcornea-glaucoma-absent frontal sinuses syndrome is characterised by microcornea, glaucoma and absent frontal sinuses. Less 10 cases have been described so far. The mode of transmission appears to be autosomal dominant." "" + "microgastria-limb reduction defect syndrome" "This syndrome is characterised by the association of microgastria with a limb reduction defect." "" + "multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome" "" + "syndromic gastroduodenal malformation" "A gastroduodenal malformation that is part of a larger syndrome." "" + "micromelic bone dysplasia with cloverleaf skull" "" + "thanatophoric dysplasia type 2" "Thanatophoric dysplasia characterized by a cloverleaf-like skull and straight femurs." "" + "microphthalmia, isolated, with cataract 1" "" + "microphthalmia, isolated, with corectopia" "" + "microspherophakia with hernia" "" + "microspherophakia-metaphyseal dysplasia syndrome" "Microspherophakia - metaphyseal dysplasia is a very rare syndrome associating bone dysplasia with micromelic dwarfism and eye defects." "" + "lens size anomaly" "" + "holoprosencephaly 2" "A rare disorder characterized by the partial separation of the cerebral hemispheres. It is associated with mutations in the SIX3 gene." "" + "migraine with or without aura, susceptibility to, 1" "" + "migraine with or without aura, susceptibility to" "An inherited susceptibility or predisposition to developing migraines with or without aura." "" + "milia, multiple eruptive" "" + "mirror movements 1" "Any familial congenital mirror movements in which the cause of the disease is a mutation in the DCC gene." "" + "autosomal dominant progressive external ophthalmoplegia" "Autosomal dominant form of progressive external ophthalmoplegia." "" + "multiple mitochondrial DNA deletion syndrome" "" + "familial mitral valve prolapse" "An instance of mitral valve prolapse (disease) that is caused by an inherited modification of the individual's genome." "" + "congenital mitral valve insufficiency and/or stenosis" "" + "inherited mitral valve disease" "An instance of mitral valve disease that is caused by an inherited modification of the individual's genome." "" + "cardiospondylocarpofacial syndrome" "Cardiospondylocarpofacial syndrome is characterized by mitral insufficiency, conductive deafness, short stature, and skeletal anomalies (bony fusion involving the cervical vertebrae, the ossicles, and the carpal and tarsal bones). It has been described in three members of one family. The mode of inheritance is likely to be autosomal dominant with incomplete penetrance." "" + "Mobius syndrome" "Moebius syndrome is a very rare congenital cranial dysinnervation disorder characterized by complete or incomplete facial paralysis in association with bilateral palsy of the abducens nerve causing impairment of ocular abduction. The syndrome also includes various other congenital anomalies." "" + "paralytic facial malformation" "" + "tooth ankylosis" "Dental ankylosis is a rare disorder characterized by the fusion of the tooth to the bone, preventing both eruption and orthodontic movement." "" + "MOMO syndrome" "MOMO syndrome is a very rare genetic overgrowth/obesity syndrome characterized by macrocephaly, obesity, mental (intellectual) disability and ocular abnormalities. Other frequent clinical signs include macrosomia, downslanting palpebral fissures, hypertelorism, broad nasal root, high and broad forehead and delay in bone maturation, in association with normal thyroid function and karyotype." "" + "monilethrix" "Monilethrix is a rare genodermatosis characterized by a hair shaft dysplasia resulting in hypotrichosis." "" + "isolated genetic hair shaft abnormality" "" + "antigen defined by monoclonal antibody Aj9" "" + "antigen defined by monoclonal antibody T87" "" + "Monophalangy of great toe" "" + "chromosome 9p deletion syndrome" "Monosomy 9p is a rare chromosomal anomaly characterized by psychomotor developmental delay, facial dysmorphism (trigonocephaly, midface hypoplasia, upslanting palpebral fissures, dysplastic small ears, flat nasal bridge with anteverted nostrils and long philtrum, micrognathia, choanal atresia, short neck), single umbilical artery, omphalocele, inguinal or umbilical hernia, genital abnormalities (hypospadia, cryptorchidism), muscular hypotonia and scoliosis." "" + "partial deletion of chromosome 9" "" + "nondisjunction" "" + "trismus-pseudocamptodactyly syndrome" "" + "hereditary mucoepithelial dysplasia" "A condition that affects the skin, hair, mucosa (areas ofthe body that are lined with mucus), gums (gingiva), eyes, nose and lungs. Symptoms typically begin in infancy and may include development of cataracts (clouding of the eye lens); blindness; hair loss (alopecia); abnormal changes to the perineum (the area between the anus and external genitalia); and small, skin-colored bumps (keratosis pilaris). Terminal lung disease has also been reported. The cause of HMD is thought to be an abnormality in desmosomes and gap junctions, which are structures involved in cell-to-cell contact. HMD typically follows autosomal dominant inheritance, but has occurred sporadically (in an individual who has no family history of the condition). Treatment typically focuses on individual symptoms of the condition." "" + "Muir-Torre syndrome" "Muir-Torre syndrome (MTS) is a form of hereditary nonpolyposis colon cancer (HNPCC) characterized by cutaneous sebaceous tumors, keratoacanthomas and at least one visceral malignancy, most frequently gastrointestinal carcinoma." "" + "palpebral sebaceous gland tumor" "A neoplasm (disease) that involves the sebaceous gland of eyelid." "" + "mullerian aplasia and hyperandrogenism" "Deficiency of the glycoprotein WNT4, associated with loss of function mutation(s) in the WNT4 gene. The condition in 46,XX individuals is characterized by mild hyperandrogenism, absence of underdevelopment of the uterus, and sometimes absence of underdevelopment of the vagina." "" + "partial bilateral aplasia of the mullerian ducts" "" + "multiple exostoses with spastic tetraparesis" "" + "Cowden syndrome 1" "Any Cowden disease in which the cause of the disease is a mutation in the PTEN gene." "" + "Cowden disease" "" + "muscle cramps, familial" "" + "muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome" "This disorder is characterized by muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus." "" + "syndromic retinitis pigmentosa" "A retinitis pigmentosa that is part of a larger syndrome." "" + "neuronopathy, distal hereditary motor, type 7A" "Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the SLC5A7 gene." "" + "distal hereditary motor neuropathy type 7" "Distal hereditary motor neuropathy type 7 is a rare, slowly progressive genetic peripheral neuropathy characterized by distal atrophy and weakness affecting the upper limbs (with a predilection for the thenar eminence) and subsequently the lower limbs, associated with uni- or bilateral vocal cord paresis leading to hoarse voice and breathing difficulties, and facial weakness." "" + "neuronopathy, distal hereditary motor, type 2A" "Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the HSPB8 gene." "" + "distal hereditary motor neuropathy type 2" "" + "autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures" "" + "autosomal dominant childhood-onset proximal spinal muscular atrophy" "" + "muscular atrophy, malignant neurogenic" "" + "muscular dystrophy, Barnes type" "" + "muscular dystrophy" "Muscular dystrophy (MD) refers to a group of more than 30 genetic diseases characterized by progressive weakness and degeneration of the skeletal muscles that control movement. Some forms of MD are seen in newborns, infants or children, while others have late-onset and may not appear until middle age or later. The disorders differ in terms of the distribution and extent of muscle weakness (some forms of MD also affect cardiac muscle), age of onset, rate of progression, and pattern of inheritance. The prognosis for people with MD varies according to the type and progression of the disorder. There is no specific treatment to stop or reverse any form of MD. Treatment is supportive and may include physical therapy, respiratory therapy, speech therapy, orthopedic appliances used for support, corrective orthopedic surgery, and medicationsincluding corticosteroids, anticonvulsants (seizure medications), immunosuppressants, and antibiotics. Some individuals may need assisted ventilation to treat respiratory muscle weaknessor a pacemaker for cardiac (heart)abnormalities." "" + "Bethlem myopathy" "A usually autosomal dominant inherited movement disorder caused by mutations in the COL6A1, COL6A2, and COL6A3 genes. It is characterized by progressive muscle weakness and joint stiffness in the fingers, wrists, elbows, and ankles." "" + "facioscapulohumeral muscular dystrophy 1" "Any facioscapulohumeral muscular dystrophy in which the cause of the disease is a mutation in the FRG1 gene." "" + "facioscapulohumeral muscular dystrophy 2" "Any facioscapulohumeral muscular dystrophy in which the cause of the disease is a mutation in the SMCHD1 gene." "" + "obsolete autosomal dominant limb-girdle muscular dystrophy type 1A" "" "true" + "obsolete autosomal dominant limb-girdle muscular dystrophy type 1B" "Autosomal dominant limb-girdle muscular dystrophy type 1B (LGMD1B) is a subtype of autosomal dominant limb girdle muscular dystrophy characterized by a variable age of onset of progressive shoulder and hip girdle weakness, with inferior limbs usually being affected prior to upper limbs, and mild joint contractures. LGMD1B is also associated with cardiac dysrhythmias, including atrioventricular conduction blocks, and late-onset dilated cardiomyopathy, that may lead to sudden death." "" "true" + "muscular dystrophy, pseudohypertrophic, with Internalized capillaries" "" + "Becker muscular dystrophy" "Becker muscular dystrophy (BMD) is a neuromuscular disease characterized by progressive muscle wasting and weakness due to degeneration of skeletal, smooth and cardiac muscle." "" + "muscular hypoplasia, congenital universal, of Krabbe" "" + "myasthenia, limb-girdle, autoimmune" "" + "myelinated optic nerve fibers" "" + "ataxia-pancytopenia syndrome" "Ataxia-pancytopenia syndrome is a rare genetic disease characterized by cerebellar ataxia, cytopenias and predisposition to bone marrow failure and myeloid leukaemia. Neurologic features variably include slowly progressive cerebellar ataxia or balance impairment with cerebellar atrophy and periventricular white matter T2 hyperintensities in brain MRI, horizontal and vertical nystagmus, dysmetria, dysarthria, pyramidal tract signs and reduced nerve conduction velocity. Hematological abnormalities are variable and may be intermittent and include cytopenias of all cell lineages, immunodeficiency, myelodysplasia and acute myeloid leukemia." "" + "tropical spastic paraparesis" "Tropical spastic paraparesis is a chronic systemic immune-mediated inflammatory myeloneuropathy, more frequently reported in women than in men, that usually presents in adulthood with slowly progressive spastic paraparesis of the lower limbs, bladder and bowel dysfunction, and sensory disturbances in the lower extremities (e.g. paresthesia and dysesthesia) and that is associated with a human T-cell lymphotropic virus type 1 (HTLV-1) infection." "" + "transient myeloproliferative syndrome" "A myeloid proliferation occurring in newborns with Down syndrome. It is clinically and morphologically indistinguishable from acute myeloid leukemia and is associated with GATA1 mutations. The blasts display morphologic and immunophenotypic features of megakaryocytic lineage. In the majority of patients the myeloid proliferation undergoes spontaneous remission." "" + "Down syndrome" "Down syndrome is a chromosomal abnormality caused by the presence of a third (partial or total) copy of chromosome 21 and that is characterized by variable intellectual disability, muscular hypotonia, and joint laxity, often associated with a characteristic facial dysmorphism and various anomalies such as cardiac, gastrointestinal, or endocrine defects." "" + "myoclonic epilepsy, Hartung type" "" + "myoclonus and ataxia" "" + "myoclonic cerebellar dyssynergia" "A condition marked by progressive cerebellar ataxia combined with myoclonus usually presenting in the third decade of life or later. Additional clinical features may include generalized and focal seizures, spasticity, and dyskinesias. Autosomal recessive and autosomal dominant patterns of inheritance have been reported. Pathologically, the dentate nucleus and brachium conjunctivum of the cerebellum are atrophic, with variable involvement of the spinal cord, cerebellar cortex, and basal ganglia. (From Joynt, Clinical Neurology, 1991, Ch37, pp60-1)" "" + "myoclonus-cerebellar ataxia-deafness syndrome" "This syndrome is characterised by the association of myoclonus, cerebellar ataxia and sensorineural hearing loss." "" + "myoclonic dystonia 11" "Any myoclonus-dystonia syndrome in which the cause of the disease is a mutation in the SGCE gene." "" + "spinal muscular atrophy-progressive myoclonic epilepsy syndrome" "Spinal muscular atrophy-progressive myoclonic epilepsy syndrome is characterized by hereditary myoclonus and progressive distal muscular atrophy. Less than 10 cases have been reported. Treatment with clonazepam results in complete and lasting improvement of the myoclonus." "" + "variable age onset epilepsy" "An epilepsy syndrome that has an onset during variable ages and stages of life." "" + "autosomal dominant myoglobinuria" "Autosomal dominant myoglobinuria is a rare metabolic myopathy characterized by episodic myalgia with myoglobinuria which is induced by fever, viral or bacterial infection, prolonged exercise or alcohol abuse, and could, on occasion, lead to acute renal failure. Between episodes, patients may be asymptomatic or could present elevated creatine kinase levels and mild muscle weakness. There have been no further descriptions in the literature since 1997." "" + "muscular lipidosis" "" + "episodic ataxia type 1" "Episodic ataxia type 1 (EA1) is a frequent form of Hereditary episodic ataxia (EA) characterized by brief episodes of ataxia, neuromyotonia, and continuous interictal myokymia." "" + "autosomal dominant centronuclear myopathy" "Autosomal dominant centronuclear myopathy (AD-CNM) is an inherited neuromuscular disorder defined by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy." "" + "centronuclear myopathy" "Centronuclear myopathy (CNM) is an inherited neuromuscular disorder characterized by clinical features of a congenital myopathy and centrally placed nuclei on muscle biopsy." "" + "myopathy, distal, infantile-onset" "" + "distal myopathy" "Distal myopathy refers to a group of muscle diseases which share the clinical pattern of predominant weakness and atrophy beginning in the feet and/or hands." "" + "MYH7-related skeletal myopathy" "Laing distal myopathy, also called myopathy distal, type 1 (MPD1), is characterized by early-onset selective weakness of the great toe and ankle dorsiflexors, and a very slowly progressive course." "" + "qualitative or quantitative defects of beta-myosin heavy chain (MYH7)" "" + "congenital myopathy" "" + "tubular aggregate myopathy" "Tubular aggregate myopathy is a disorder that affects the skeletal muscles. Signs and symptoms typically begin in childhood and worsen over time. The leg muscles are most often affected, but the arm muscles may also be involved. Symptoms include muscle pain, cramping, weakness or stiffness; and exercise-induced muscle fatigue. Affected individuals may have an unusual walking style (gait) or difficulty running, climbing stairs, or getting up from a squatting position. Some individuals develop contractures. This condition may be caused by mutations in the STIM1 or ORAI1 genes. It is usually inherited in an autosomal dominant manner, but autosomal recessive inheritance has also been reported." "" + "myopathy with storage of glycoproteins and Glycosaminoglycans" "" + "myopia 2, autosomal dominant" "" + "juvenile dermatomyositis" "Juvenile dermatomyositis (JDM) is the early-onset form of dermatomyositis (DM), a systemic, autoimmune inflammatory muscle disorder, characterized by proximal muscle weakness, evocative skin lesion, and systemic manifestations." "" + "juvenile idiopathic inflammatory myopathy" "" + "myotonia congenita, autosomal dominant" "" + "Thomsen and Becker disease" "A rare, genetic, skeletal muscle channelopathy characterized by slow muscle relaxation after contraction (myotonia)." "" + "myotonic dystrophy type 1" "Steinert disease, also known as myotonic dystrophy type 1, is a muscle disease characterized by myotonia and by multiorgan damage that combines various degrees of muscle weakness, arrhythmia and/or cardiac conduction disorders, cataract, endocrine damage, sleep disorders and baldness." "" + "Carney complex, type 1" "Any Carney complex in which the cause of the disease is a mutation in the PRKAR1A gene." "" + "Carney complex" "Carney complex (CNC) is characterized by spotty skin pigmentation, endocrine overactivity and myxomas." "" + "cylindrical spirals myopathy" "Cylindrical spirals myopathy is a rare form of congenital myopathy characterized by global muscle weakness, hypotonia, myotonia and cramps in the presence of cylindrical, spiral-shaped inclusions (located in the central and/or subsacrolemmal areas of muscle fibers) in skeletal muscle biopsy. Abnormal gait, scoliosis, epileptic encephalopathy and psychomotor delay may be associated." "" + "Naegeli-Franceschetti-Jadassohn syndrome" "Naegeli-Franceschetti-Jadassohn (NFJ) syndrome is a rare ectodermal dysplasia that affects the skin, sweat glands, nails, and teeth." "" + "nonsyndromic congenital nail disorder 1" "Nail dysplasia is an idiopathic nail dystrophy, beginning in early childhood, and characterised by excessive longitudinal striations and loss of nail luster affecting all 20 nails." "" + "nail-patella syndrome" "A rare hereditary patellar dysostosis characterized by nail hypoplasia or aplasia, aplastic or hypoplastic patellae, elbow dysplasia, and the presence of iliac horns as well as renal and ocular anomalies." "" + "onycho-patellar syndrome with eye involvement" "True" + "narcolepsy 1" "A rare disorder characterized by sudden and transient episodes of loss of muscle tone. It often follows an experience of intense emotions. It is seen in patients with narcolepsy." "" + "narcolepsy" "A sleep disorder characterized by a tendency for excessive sleepiness during the day which occurs even after adequate sleep in the nighttime. The persons who suffer from this condition experience fatigue and may fall asleep at inappropriate times during the day." "" + "narcolepsy-cataplexy syndrome" "Narcolepsy with cataplexy is a sleep disorder characterized by excessive day-time sleepiness associated with uncontrollable sleep urges and cataplexy (loss of muscle tone often triggered by pleasant emotions)." "" + "nasal alar collapse, bilateral" "" + "nasal bones, absence of" "" + "nasal groove, familial transverse" "" + "nasal hyperpigmentation, familial transverse" "" + "nasopharyngeal carcinoma, susceptibility to, 2" "" + "nasopharyngeal carcinoma" "A carcinoma arising from the nasopharyngeal epithelium. It includes the following types: keratinizing squamous cell carcinoma, nonkeratinizing carcinoma (differentiated and undifferentiated), basaloid squamous cell carcinoma, and papillary adenocarcinoma." "" + "navicular bone, accessory" "True" + "necrotizing encephalomyelopathy, subacute, of Leigh, adult" "" + "Leigh syndrome" "A progressive neurological disease defined by specific neuropathological features associating brainstem and basal ganglia lesions." "" + "nemaline myopathy 3" "An inherited myopathy caused by mutations in the ACTA1 gene, encoding actin, alpha skeletal muscle. The phenotype is highly variable, and as such attempts at classification by clinical features is not optimal. Generally, affected individuals have generalized muscle weakness, typically involving proximal muscles, the face, bulbar and respiratory muscles." "" + "nemaline myopathy" "Nemaline myopathy (NM) encompasses a large spectrum of myopathies characterized by hypotonia, weakness and depressed or absent deep tendon reflexes, with pathologic evidence of nemaline bodies (rods) on muscle biopsy." "" + "severe congenital nemaline myopathy" "Severe congenital nemaline myopathy is a severe form of nemaline myopathy (NM) characterized by severe hypotonia with little spontaneous movement in neonates." "" + "intermediate nemaline myopathy" "Intermediate nemaline myopathy is a type of nemaline myopathy (NM) that shows features of typical NM in neonates with a more severe progression." "" + "typical nemaline myopathy" "Typical nemaline myopathy is a moderate neonatal form of nemaline myopathy (NM) characterized by facial and skeletal muscle weakness and mild respiratory involvement." "" + "childhood-onset nemaline myopathy" "Childhood onset nemaline myopathy, or mild nemaline myopathy is a type of nemaline myopathy (NM) characterized by distal muscle weakness, and sometimes slowness of muscle contraction." "" + "alpha-actinopathy" "A musculoskeletal system disorder that covers a wide spectrum of phenotypes and is caused by pathogenic variants in the skeletal muscle α-actin gene (ACTA1). These variants lead to a variety of overlapping adult onset and congenital myopathies characterized by muscle weakness, hypotonia, myopathic face, respiratory dysfunction, and rarely cardiac involvement. Specific skeletal muscle structural lesions visible on muscle biopsy include actin accumulations, nemaline and intranuclear bodies, fiber-type disproportion, cores, caps, dystrophic features and zebra bodies. Disorders associated with ACTA1 pathogenic variants can have autosomal dominant (90%) or recessive (10%) inheritance." "" + "autosomal dominant progressive nephropathy with hypertension" "" + "IgA nephropathy, susceptibility to, 1" "" + "familial juvenile hyperuricemic nephropathy type 1" "A rare kidney disorder characterized by hyperuricemia, progressive nephropathy, and gout occurring at an early age." "" + "familial cystic renal disease" "An instance of cystic kidney disease that is caused by an inherited modification of the individual's genome." "" + "autosomal dominant medullary cystic kidney disease with or without hyperuricemia" "A genetic kidney disease that causes progressive loss of kidney function caused by mutations in the genes encoding uromodulin (UMOD), hepatocyte nuclear factor-1β (HNF1B), renin (REN), or mucin-1 (MUC1)." "" + "obsolete nerve growth factor, alpha subunit" "" "true" + "neurofibromatosis type 3" "Neurofibromatosis (NF) type 3 (NF3), also known as schwannomatosis, is the least frequent form of the rare genetic disorder neurofibromatosis. It is clinically and genetically distinct from NF1 and NF2 and is characterized by the development of multiple schwannomas (nerve sheath tumors), without involvement of the vestibular nerves. NF3 develops in adulthood and is often associated with chronic pain. Dysesthesia and paresthesia may also be present. Common localizations include the spine, peripheral nerves, and the cranium." "" + "amyotrophic neuralgia" "An autosomal dominant form of recurrent focal neuropathy characterized clinically by acute, recurrent episodes of brachial plexus neuropathy with muscle weakness and atrophy preceded by severe pain in the affected arm." "" + "neuralgic amyotrophy" "Neuralgic amyotrophy (NA) is an uncommon disorder of the peripheral nervous system characterized by the sudden onset of extreme pain in the upper extremity followed by rapid multifocal motor weakness and atrophy and a slow recovery in months to years. NA includes both an idiopathic (INA, also known as Parsonage-Turner syndrome) and hereditary (HNA) form." "" + "obsolete neurofibromatosis, type 1" "" "true" + "neurofibromatosis, familial spinal" "" + "neurofibromatosis type 1" "Neurofibromatosis type 1 (NF1) is a clinically heterogeneous, neurocutaneous genetic disorder characterized by cafe-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, and multiple neurofibromas." "" + "neurofibromatosis-pheochromocytoma-duodenal carcinoid syndrome" "" + "neurofibromatosis, type III, mixed central and peripheral" "" + "neurofibromatosis, type IV, of Riccardi" "" + "multiple endocrine neoplasia type 2B" "Multiple endocrine neoplasia 2B (MEN2B) syndrome is a rare aggressive form of MEN2 characterized by medullary thyroid carcinoma (MTC), pheochromocytoma, mucosal ganglioneuroma, and marfanoid habitus." "" + "ceroid lipofuscinosis, neuronal, 4 (Kufs type)" "A condition associated with mutation(s) in the DNAJC5 gene, encoding dnaJ homolog subfamily C member 5. The condition is one of a group of genetically heterogeneous neurodegenerative disorders, characterized by accumulation of intracellular lipopigments." "" + "adult neuronal ceroid lipofuscinosis" "A genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs) with onset during the third decade of life, characterized by dementia, seizures and loss of motor capacities, and sometimes associated with visual loss caused by retinal degeneration." "" + "neuropathy, congenital, with arthrogryposis multiplex" "" + "neuropathy, hereditary sensorimotor, with upper motor neuron, visual pathway and autonomic disturbance" "" + "neuropathy, hereditary sensory and autonomic, type 1A" "An axonal form of hereditary motor and sensory neuropathy distinguished by prominent early sensory loss and later positive sensory phenomena, caused by mutations in SPTLC1." "" + "hereditary sensory and autonomic neuropathy type 1" "Hereditary sensory neuropathy type I (HSN I) is a slowly progressive neurological disorder characterised by prominent predominantly distal sensory loss, autonomic disturbances, autosomal dominant inheritance, and juvenile or adulthood disease onset." "" + "hereditary neuropathy with liability to pressure palsies" "Hereditary neuropathy with liability to pressure palsies (HNPP) is an inherited peripheral nerve disorder characterized by recurrent mononeuropathy usually triggered by minor physical activities." "" + "chromosome 17p deletion" "A cytogenetic abnormality that refers to the allelic loss of all or part of the short arm of chromosome 17." "" + "neuropathy, with paraprotein in serum, cerebrospinal fluid and urine" "" + "neutropenia, chronic familial" "" + "cyclic hematopoiesis" "A hematologic disorder caused by a mutation in the ELANE (ELA2) gene; clinical manifestations include recurrent neutropenia with resultant susceptibility to infection leading to fever." "" + "constitutional neutropenia" "A rare disorder characterized by recurrent infantile infections and absence of neutrophils in the peripheral blood." "" + "obsolete abnormal neutrophil chemotactic response" "" "true" + "hereditary neutrophilia" "A leukocyte disease characterized by autosomal dominant inheritance of lifelong, persistent elevated neutrophil counts primarily consisting of segmented neutrophils that has material basis in heterozygous mutation in the CSF3R gene on chromosome 1p34." "" + "nevus, epidermal" "A benign, pigmented skin growth caused by an overgrowth of the epidermis. It is typically seen at birth, but can develop in early childhood or later in life. Most cases are sporadic, but familial patterns of inheritance have been observed." "" + "familial multiple nevi flammei" "A congenital vascular malformation in the skin (birthmark) characterized by the presence of dilated capillaries. The affected area of the skin is flat and reddish-purplish in color." "" + "nevus anemicus" "A capillary vascular anomaly that is characterized by hypopigmented macules." "" + "nevus flammeus of nape of neck" "" + "linear nevus sebaceous syndrome" "Linear nevus sebaceous syndrome (LNSS) is characterized by the association of a large sebaceous nevus, usually appearing on the face or on the scalp, with a broad spectrum of abnormalities that may affect every organ system, including the central nervous system (brain neoplasms, hemimegalencephaly and lateral ventricle enlargement)." "" + "palpebral nevus" "A melanocytic nevus that involves the skin of eyelid." "" + "bulbar conjunctival dermoid or conjunctival dermolipoma" "" + "mesomelic dwarfism, Nievergelt type" "" + "congenital stationary night blindness autosomal dominant 2" "Any congenital stationary night blindness in which the cause of the disease is a mutation in the PDE6B gene." "" + "congenital stationary night blindness" "" + "nipples inverted" "" + "familial supernumerary nipples" "Familial supernumerary nipples is a rare breast malformation characterized by the presence, in various members of a single family, of one or more nipple(s) and/or their related tissue, in addition to the normal bilateral chest nipples. The anomaly is usually situated along the embryonic milk line, from axillae to inguinal regions, but other locations are also possible. Association with dental abnormalities, Becker nevus, renal or underlying breast tissue malignancy and genitourinary malformations has been reported." "" + "supernumerary breasts" "" + "sick sinus syndrome 2, autosomal dominant" "Any sick sinus syndrome in which the cause of the disease is a mutation in the HCN4 gene." "" + "familial sick sinus syndrome" "Sick sinus syndrome is a rare cardiac rhythm disease, usually of the elderly, characterized by electrocardiographic findings of sinus bradycardia, atrial fibrillation, atrial tachycardia sinus arrest, or sino-atrial block, and that manifest with symptoms like syncope, dizziness, palpitations, fatigue, or even heart failure. It results from malfunction of the cardiac conduction system, probably secondary to degenerative fibrosis of nodal tissue in the elderly or secondary to cardiac disorders in younger patients." "" + "noduli Cutanei, multiple, with urinary tract abnormalities" "" + "Noonan syndrome 1" "Noonan syndrome caused by mutations in the PTPN11 gene." "" + "Noonan syndrome" "Noonan Syndrome (NS) is characterised by short stature, typical facial dysmorphism and congenital heart defects." "" + "nose, anomalous shape of" "" + "nystagmus 2, congenital, autosomal dominant" "" + "nystagmus, hereditary vertical" "" + "oculocerebrocutaneous syndrome" "Oculocerebrocutaneous syndrome (OCCS) is a rare congenital disorder associated with an intellectual disability and is typically characterized by the triad of eye, central nervous system and skin malformations." "" + "epilepsy syndrome" "" + "ocular cicatricial pemphigoid" "Ocular cicatricial pemphigoid (OCP) is a form of mucous membrane pemphigoid (a group of rare, chronic autoimmune disorders) that affects the eyes. In the early stages, people with OCPgenerally experience chronic or relapsing conjunctivitis that is often characterized by tearing, irritation, burning, and/or mucus drainage. If left untreated, OCP can progress to severe conjunctiva scarring and vision loss. Involvement of other mucosal sites and the skin may also occur in OCP. The exact underlying cause is currently unknown. The treatment of OCP aims to slow disease progression and prevent complications. This usually involves long-term use of medications called immunomodulators which help regulate or normalize the immune system." "" + "mucous membrane pemphigoid" "Mucous membrane pemphigoid is a bullous dermatosis characterised clinically by blistering of the mucous membranes followed by scarring, and immunologically by IgG, IgA and/or C3 deposits on the epidermal basement membrane." "" + "ocular dominance" "True" + "oculodentodigital dysplasia" "Oculodentodigital dysplasia (ODDD) is characterized by craniofacial, neurologic, limb and ocular abnormalities." "" + "obsolete Goldenhar syndrome" "" "true" + "Schilbach-Rott syndrome" "Schilbach-Rott syndrome (SRS) is an autosomal dominant dysmorphic disorder that is characterized by dysmorphic facies with hypotelorism, blepharophimosis, and cleft palate, and the frequent occurrence of hypospadias in males." "" + "obsessive-compulsive disorder" "A disorder characterized by the presence of persistent and recurrent irrational thoughts (obsessions), resulting in marked anxiety and repetitive excessive behaviors (compulsions) as a way to try to decrease that anxiety." "" + "Feingold syndrome type 1" "Feingold syndrome type 1 (FS1) is a rare inherited malformation syndrome characterized by microcephaly, short stature and numerous digital anomalies." "" + "Feingold syndrome" "Feingold syndrome (FS), also known as oculo-digito-esophageal-duodenal (ODED) syndrome, is a rare inherited malformation syndrome characterized by microcephaly, short stature and numerous digital anomalies and is comprised of two subtypes: FS type 1 (FS1) and FS type 2 (FS2). FS1 is by far the most common form while FS2 has only been reported in 3 patients and has the same clinical characteristics as FS1, apart from the absence of gastrointestinal atresia and short palpebral fissures." "" + "oculopharyngeal muscular dystrophy" "Oculopharyngeal muscular dystrophy (OPMD) is an adult-onset progressive myopathy characterized by progressive eyelid ptosis, dysphagia, dysarthria and proximal limb weakness." "" + "obsolete oculopharyngodistal myopathy" "" "true" + "odontomatosis-aortae esophagus stenosis syndrome" "Odontoma-dysphagia syndrome is a malformation syndrome, characterized by odontomas (undifferentiated mass of the esophagus) and severe dysphagia." "" + "spinocerebellar ataxia type 1" "Spinocerebellar ataxia type 1 (SCA1) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I) characterized by dysarthria, writing difficulties, limb ataxia, and commonly nystagmus and saccadic abnormalities." "" + "spinocerebellar ataxia type 7" "Spinocerebellar ataxia type 7 (SCA7), currently the only known form of autosomal dominant cerebellar ataxia type 2 (ADCA2), is a neurodegenerative disorder characterized by progressive ataxia, motor system abnormalities, dysarthria, dysphagia and retinal degeneration leading to progressive blindness." "" + "autosomal dominant cerebellar ataxia type II" "" + "onychogryposis, pedal, with keratosis plantaris and coarse hair" "" + "obsolete olivopontocerebellar atrophy 5" "" "true" + "autosomal dominant omodysplasia" "Autosomal dominant form of omodysplasia." "" + "omodysplasia" "Omodysplasia is a rare skeletal dysplasia characterized by severe limb shortening and facial dysmorphism. Two types of omodysplasia have been described: an autosomal recessive or generalized form (also referred to as micromelic dysplasia with dislocation of radius) marked by severe micromelic dwarfism with predominantly rhizomelic shortening of both the upper and lower limbs, and an autosomal dominant form in which stature is normal and shortening is limited to the upper limbs." "" + "omphalocele, autosomal" "" + "omphalocele" "Omphalocele is an embryopathy classified in the group of abdominal celosomias and is characterized by a large hernia of the abdominal wall, centered on the umbilical cord, in which the protruding viscera are protected by a sac." "" + "nonsyndromic congenital nail disorder 5" "" + "obsolete oncogene Yuasa" "" "true" + "ophthalmomandibulomelic dysplasia" "Ophthalmomandibulomelic dysplasia is characterized by complete blindness due to corneal opacities, difficult mastication due to temporomandibular fusion and anomalies of the arms." "" + "ophthalmoplegia, familial static" "" + "ophthalmoplegia, familial total, with iris transillumination" "" + "ophthalmoplegia-intellectual disability-lingua scrotalis syndrome" "" + "optic atrophy, hearing loss, and peripheral neuropathy, autosomal dominant" "" + "optic atrophy with demyelinating disease of CNS" "" + "Leber plus disease" "Leber `plus' disease describes patients with the clinical features of Leber's hereditary optic neuropathy (LHON; see term) in combination with other serious systemic or neurological abnormalities. These abnormalities include: postural tremor, motor disorder, multiple sclerosis-like syndrome, spinal cord disease, skeletal changes, Parkinsonism with dystonia, anarthria, dystonia, motor and sensory peripheral neuropathy, spasticity and mild encephalopathy. It is caused by maternally-inherited mitochondrial DNA (mtDNA) mutations." "" + "optic atrophy 3" "" + "autosomal dominant optic atrophy" "An autosomal dominant hereditary condition characterized by optic atrophy and progressive visual loss." "" + "mitochondrial oxidative phosphorylation disorder with no known mechanism" "True" + "autosomal dominant optic atrophy, classic form" "One of the most common forms of hereditary optic neuropathy characterized by progressive bilateral visual loss during the first decade of life, associated with optic disc pallor, visual field and color vision defects." "" + "optic atrophy 13 with retinal and foveal abnormalities" "" + "hereditary optic atrophy" "A family of inherited disorders characterized by progressive loss of vision secondary to death of the retinal ganglion cell axons that comprise the optic nerve." "" + "isolated optic nerve hypoplasia" "" + "hereditary optic neuropathy" "" + "orofaciodigital syndrome X" "Oral-facial-digital syndrome, type 10 is characterized by facial (telecanthus, flat nasal bridge, retrognathia), oral (cleft palate, vestibular frenula) and digital (oligodactyly, preaxial polydactyly) features, associated with remarkable radial shortening, fibular agenesis and coalescence of tarsal bones. The syndrome has been described in one 10-month-old girl. No new cases have been described since 1993." "" + "orofaciodigital syndrome" "Two syndromes of oral, facial, and digital malformations. Type I (Papillon-Leage and Psaume syndrome, Gorlin-Psaume syndrome) is inherited as an X-linked dominant trait and is found only in females and XXY males. Type II (Mohr syndrome) is inherited as an autosomal recessive trait." "" + "syndromic orbital border hypoplasia" "Syndromic orbital border hypoplasia is a rare disorder observed in two families to date and characterized by agenesis of the orbital margin, varying defects of the lacrimal passages, hypoplasia of the palpebral skin and tarsal plates and atresia of the nasolacrimal duct." "" + "OSLAM syndrome" "OSLAM syndrome is characterised by the association of osteosarcoma, limb anomalies (clinodactyly with brachymesophalangy, bilateral radioulnar synostosis and absence of one digital ray of the foot) and red cell macrocytosis without anaemia." "" + "syndrome with synostosis or other joint formation defect" "True" + "ossified ear cartilages" "" + "ossicular malformations, familial" "" + "Thiemann disease, familial form" "Thiemann disease is a very rare genetic necrotic bone disorder characterized clinically by painless swelling of the proximal interphalangeal joints associated with osteonecrosis of epiphyses followed by osteoarthritic changes, with onset before 25 years of age and often a benign course." "" + "osteochondrosis of genetic origin" "An instance of osteochondrosis that is caused by a modification of the individual's genome." "" + "osteoarthritis susceptibility 1" "Any osteoarthritis in which the cause of the disease is a mutation in the FRZB gene." "" + "obsolete osteochondritis dissecans" "" "true" + "Ollier disease" "A rare primary bone dysplasia disorder characterized by the development of multiple mainly unilateral or asymmetrically distributed enchondromas throughout the metaphyses of the long bones." "" + "osteogenesis imperfecta type 1" "Osteogenesis imperfecta type I is a mild type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures." "" + "osteogenesis imperfecta" "Osteogenesis imperfecta (OI) comprises a heterogeneous group of genetic disorders characterized by increased bone fragility, low bone mass, and susceptibility to bone fractures with variable severity." "" + "osteogenesis imperfecta type 2" "Osteogenesis imperfecta type II is a lethal type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. Patients with type II present multiple rib and long bone fractures at birth, marked deformities, broad long bones, low density on skull X-rays, and dark sclera." "" + "osteogenesis imperfecta type 4" "Osteogenesis imperfecta type IV is a moderate type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. Patients with type IV have moderately short stature, mild to moderate scoliosis, grayish or white sclera, and dentinogenesis imperfecta (DI)." "" + "osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones but without fractures" "An osteogenesis imperfecta found in a single South African family." "" + "osteoglophonic dwarfism" "Osteoglophonic dwarfism (OGD) is characterized by dwarfism, severe craniofacial abnormalities and multiple unerupted teeth." "" + "gnathodiaphyseal dysplasia" "Gnathodiaphyseal dysplasia (GDD) is a bone dysplasia characterized by bone fragility, frequent bone fractures at a young age, cemento-osseous lesions of the jaw bones, bowing of tubular bones (tibia and fibula) and diaphyseal sclerosis of long bones associated with generalized osteopenia. GD follows an autosomal dominant mode of transmission." "" + "multicentric carpo-tarsal osteolysis with or without nephropathy" "Idiopathic multicentric osteolysis is a very rare syndrome characterized by progressive loss of bone, usually the capsal and tarsal bones, resulting in deformity and disability, as well as chronic renal failure in many cases. The bone and renal disorders are sometimes associated with intellectual deficit and facial abnormalities." "" + "progressive osseous heteroplasia" "A rare genetic bone disorder characterized clinically by progressive extraskeletal bone formation presenting in early life with cutaneous ossification, that progressively involves subcutaneous and then subsequently deep connective tissues, including muscle and fascia. POH overlaps with a number of related genetic disorders including Albright hereditary osteodystrophy, pseudohypoparathyroidism (see these terms), and primary osteoma cutis, that share the common features of superficial heterotopic ossification in association with inactivating mutations of GNAS gene (20q13.2-q13.3), coding for guanine nucleotide-binding proteins. POH can, however, be distinguished clinically by the deep and progressive nature of the heterotopic bone formation." "" + "osteomas of mandible" "" + "benign neoplasm of lower jaw bone" "A benign neoplasm that involves the bone of lower jaw." "" + "osteomesopyknosis" "Osteomesopyknosis is a very rare benign bone disorder characterized by bone dysplasia manifested by patchy sclerosis of the axial skeleton and increased bone mineral content." "" + "autosomal dominant osteopetrosis 2" "A sclerosing disorder of the skeleton characterized by increased bone density that classically displays the radiographic sign of ''sandwich vertebrae'' (dense bands of sclerosis parallel to the vertebral endplates)." "" + "autosomal dominant osteopetrosis" "Autosomal dominant form of osteopetrosis (disease)." "" + "obsolete unclassified primitive or secondary maculopathy" "" "true" + "Buschke-Ollendorff syndrome" "Buschke-Ollendorff syndrome (BOS) is a benign disorder characterized by the association of osteopoikilosis lesions (``spotted bones'') in the skeleton and connective tissue nevi in the skin." "" + "laminopathy" "A rare genetic disorder caused by mutations in genes encoding proteins of the nuclear lamina." "" + "dacryocystitis-osteopoikilosis syndrome" "Dacryocystitis - osteopoikilosis is an exceedingly rare autosomal dominant disorder reported in only a few patients to date and is characterized by dacryocystitis due to lacrimal canal stenosis,and osteopoikilosis (demonastratedr adiologically as discrete spherical osteosclerotic lesions of 2-10mm in diameter)." "" + "postmenopausal osteoporosis" "Metabolic disorder associated with fractures of the femoral neck, vertebrae, and distal forearm. It occurs commonly in women within 15-20 years after menopause, and is caused by factors associated with menopause including estrogen deficiency." "" + "osteosclerosis with ichthyosis and fractures" "" + "otodental syndrome" "Otodental syndrome is a very rare inherited condition characterized by grossly enlarged canine and molar teeth (globodontia) associated with sensorineural hearing loss." "" + "otitis media, susceptibility to" "" + "otofaciocervical syndrome" "Otofaciocervical syndrome is a rare, genetic developmental defect during embryogenesis characterized by distinct facial features (long triangular face, broad forehead, narrow nose and mandible, high arched palate), prominent, dysmorphic ears (low-set and cup-shaped with large conchae and hypoplastic tragus, antitragus and lobe), long neck, preauricular and/or branchial fistulas and/or cysts, hypoplastic cervical muscles with sloping shoulders and clavicles, winged, low, and laterally-set scapulae, hearing impairment and mild intellectual deficit. Vertebral defects and short stature may also be associated." "" + "otosclerosis 1" "" + "southeast Asian ovalocytosis" "Southeast Asian ovalocytosis (SAO) is a rare hereditary red cell membrane defect characterized by the presence of oval-shaped erythrocytes and with most patients being asymptomatic or occasionally manifesting with mild symptoms such as pallor, jaundice, anemia and gallstones." "" + "hereditary stomatocytosis" "" + "ovalocytosis, hereditary hemolytic, with defective erythropoiesis" "" + "dermoid cyst of ovary" "A cystic teratoma that arises from the ovary. It presents as a cystic mass that contains sebaceous material admixed with hairs. In a minority of cases it is bilateral." "" + "ovarian fibroma" "A benign neoplasm arising from soft tissue of the ovary. It is characterized by the presence of spindle-shaped fibroblasts." "" + "osteochondrodysplasia, rhizomelic, with callosal agenesis, thrombocytopenia, hydrocephalus, and hypertension" "" + "hypertrophic osteoarthropathy, primary, autosomal dominant" "" + "primary hypertrophic osteoarthropathy" "A genetically and clinically heterogeneous inherited disorder characterized by digital clubbing and osteoarthropathy, with variable features of pachydermia, delayed closure of the fontanels, and congenital heart disease. There are two types of PHO: pachydermoperiostosis and cranio-osteoarthropathy." "" + "pachyonychia congenita 1" "Any pachyonychia congenita in which the cause of the disease is a mutation in the KRT16 gene." "" + "pachyonychia congenita 2" "Any pachyonychia congenita in which the cause of the disease is a mutation in the KRT17 gene." "" + "pacman dysplasia" "Pacman dysplasia is characterized by epiphyseal stippling and osteoclastic overactivity. It has been described in less than 10 patients but may be underdiagnosed. It is characterized radiographically by severe stippling of the lower spine and long bones, and periosteal cloaking. Patients also have short metacarpals. The syndrome may be inherited as an autosomal recessive trait. This disorder should be included in the differential diagnosis of mucolipidosis type II. In order to make a definitive diagnosis, lysosomal storage should be investigated by electron microscopy, or enzyme assays should be performed. Familial recurrence can be easily detected by prenatal ultrasonography. This skeletal dysplasia is lethal." "" + "Paget disease of bone 3" "" + "inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1" "A rare autosomal dominant inherited disorder caused by mutations in the VCP gene. It can affect the muscles, bones, and brain. Patients may develop myopathy that initially involves the muscles of the hips and shoulders and as the disorder progresses it may affect the cardiac and respiratory muscles, leading to life-threatening cardiac and pulmonary failure. Approximately half of the adults develop Paget disease of bone, and approximately one-third develop frontotemporal dementia." "" + "paroxysmal extreme pain disorder" "Paroxysmal extreme pain disorder is a rare disorder of abnormal pain sensation." "" + "congenital velopharyngeal incompetence" "Failure of the soft palate to reach the posterior pharyngeal wall to close the opening between the oral and nasal cavities. Incomplete velopharyngeal closure is primarily related to surgeries (adenoidectomy; cleft palate) or an incompetent palatopharyngeal sphincter. It is characterized by hypernasal speech." "" + "palmaris longus muscle, absence of" "" + "nasopalpebral lipoma-coloboma syndrome" "Nasopalpebral lipoma-coloboma-telecanthus syndrome is characterized by nasopalpebral lipomas, bilateral lid coloboma, and telecanthus." "" + "annular pancreas" "Annular pancreas is a distinct form of duodenal atresia in which the head of the pancreas forms a ring around the second portion of the duodenum." "" + "non-syndromic visceral malformation" "" + "pancreas, dorsal, agenesis of" "" + "pancreatic agenesis" "Partial agenesis of the pancreas is characterized by the congenital absence of a critical mass of pancreatic tissue." "" + "hereditary chronic pancreatitis" "Hereditary chronic pancreatitis (HCP), a rare inherited form of pancreatitis is defined as recurrent acute pancreatitis and/or chronic pancreatitis in two first-degree relatives or 3 or more second-degree relatives in 2 or more generations, for which no predisposing factors are identified. HCP is characterized by irreversible damage to both exocrine and endocrine components of the pancreas." "" + "pancytopenia and occlusive vascular disease" "" + "panic disorder 1" "" + "papillomatosis, confluent and reticulated" "" + "papillomatosis, florid, of nipple" "A rare benign neoplasm that arises in the area of the nipple. Clinically, it usually presents as a tender erythematous crusting lesion with hardening of the nipple. Morphologically, there is proliferation of ducts lined with epithelial and myoepithelial cells and focal erosion of the epidermis." "" + "obsolete human papillomavirus type 18 integration site 1" "" "true" + "obsolete human papillomavirus type 18 integration site 2" "" "true" + "paragangliomas 1" "Any paraganglioma in which the cause of the disease is a mutation in the SDHD gene." "" + "paralysis agitans, juvenile, of Hunt" "" + "parkinsonian-pyramidal syndrome" "A Parkinson's disease that has material basis in mutation in the FBXO7 gene on chromosome 22q12.3." "" + "Paramolar tubercle of bolk" "" + "paramyotonia congenita of Von Eulenburg" "Paramyotonia congenita of Von Eulenburg is characterised by exercise- or cold-induced myotonia and muscle weakness. Prevalence is unknown. The syndrome is nonprogressive and is transmitted as an autosomal dominant trait. It is caused by mutations in the gene encoding the alpha subunit of the type IV voltage-gated sodium channel (SCN4A; 17q23.3)." "" + "myotonic syndrome" "" + "muscular channelopathy" "A channelopathy that involves the muscle tissue." "" + "parastremmatic dwarfism" "Parastremmatic dwarfism is a very rare chondrodysplasia characterized by severe dwarfism, kyphoscoliosis, stiffness of large joints and distortion of lower limbs." "" + "parietal foramina 1" "Any parietal foramina in which the cause of the disease is a mutation in the MSX2 gene." "" + "parietal foramina" "Enlarged parietal foramina (EPF) is a developmental defect, characterized by variable intramembranous ossification defects of the parietal bones, which is either asymptomatic, symptomatic (headaches, nausea, vomiting, intellectual disability) or associated with other pathologies." "" + "parietal foramina with cleidocranial dysplasia" "Parietal foramina with clavicular hypoplasia is a rare genetic bone development disorder characterized by parietal foramina in association with hypoplasia of the clavicles (short abnormal clavicles with tapering lateral ends, with or without loss of the acromion). Additional features may include mild craniofacial dysmorphism (macrocephaly, broad forehead and frontal bossing). No dental abnormalities were reported." "" + "late-onset Parkinson disease" "A Parkinson disease that begins after around the age of 50." "" + "autosomal dominant Parkinson disease 1" "" + "Perry syndrome" "Perry syndrome is a rare inherited neurodegenerative disorder characterized by rapidly progressive early-onset parkinsonism, central hypoventilation, weight loss, insomnia and depression." "" + "Parotidomegaly, hereditary bilateral" "" + "Passovoy factor defect" "" + "obsolete patella aplasia, coxa vara, and tarsal synostosis" "" "true" + "patella aplasia/hypoplasia" "Isolated patella aplasia-hypoplasia is an extremely rare genetic condition characterized by congenital absence or marked reduction of the patellar bone described in only a few families to date." "" + "non-syndromic limb malformation" "" + "benign paroxysmal tonic upgaze of childhood with ataxia" "Benign paroxysmal tonic upgaze of childhood with ataxia is a rare paroxysmal movement disorder characterized by episodes of sustained, conjugate, upward deviation of the eyes and down beating saccades in attempted downgaze (with preserved horizontal eye movements) which is accompanied by ataxic symptomatology (unsteady gait, lack of balance and movement coordination disturbances) in an otherwise healthy individual. Bilateral vertical nystagmus is associated. Symptoms generally disappear spontaneously within 1-2 years after onset." "" + "chondromalacia patellae" "Familial chondromalacia patellae is an inherited bone disorder described in 5 families in 1963 and is characterized by localized patellar pain and male-to-male transmission." "" + "patella, familial recurrent dislocation of" "" + "Char syndrome" "Char syndrome is characterized by the triad of patent ductus arteriosus (PDA), facial dysmorphism and hand anomalies." "" + "patent ductus arteriosus" "A congenital defect characterized by the failure of the ductus arteriosus to close soon after birth. As a consequence, blood from the aorta mixes with blood from the pulmonary artery. If untreated, it may lead to congestive heart failure." "" + "patterned macular dystrophy 1" "Any patterned macular dystrophy in which the cause of the disease is a mutation in the PRPH2 gene." "" + "patterned macular dystrophy" "A macular degeneration characterized by abnormal accumulation of lipofuscin in the retinal pigment epithelium in a distinct pattern, patterns include; reticular ('fishnet-like'), macroreticular ('spider-shaped'), and butterfly-shaped." "" + "pseudoleprechaunism syndrome, Patterson type" "Pseudoleprechaunism syndrome, Patterson type is a rare, genetic, adrenal disorder characterized by congenital bronzed hyperpigmentation, cutis laxa of the hands and feet, body disproportion (comprising large hands, feet, nose and ears), hirsutism and severe intellectual disability. Patients additionally present hyperadrenocorticism, cushingoid features, premature adrenarche and diabetes mellitus, as well as skeletal deformities (not present at birth and which progress with age). There have been no further descriptions in the literature since 1981." "" + "Pechet factor deficiency" "" + "pectus excavatum" "A developmental anomaly in which the lower sternum is posteriorly dislocated and concavely deformed, resulting in a funnel-shaped thorax." "" + "Pelger-Huet anomaly" "An autosomal dominant inherited condition caused by mutations in the lamin B receptor gene. It is characterized by defects in the neutrophil lobulation, resulting in the presence of dumbbell-shaped neutrophils with bilobed nuclei in the peripheral blood smear." "" + "adult-onset autosomal dominant demyelinating leukodystrophy" "Adult-onset autosomal dominant leukodystrophy (ADLD) is a rare slowly progressive neurological disorder involving centralnervous systemdemyelination, leading to autonomic dysfunction,ataxia and mild cognitive impairment." "" + "partial trisomy of the long arm of chromosome 5" "Chromosome 5q duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the long arm (q) of chromosome 5. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 5q duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Chromosome 5q duplication can be de novo or inherited from a parent with a chromosomal rearrangement such as a balanced translocation. Treatment is based on the signs and symptoms present in each person." "" + "pelvic lipomatosis with crossed renal ectopia" "" + "pelvis-shoulder dysplasia" "Pelvis-shoulder dysplasia is a rare focal skeletal dysostosis characterized by symmetrical hypoplasia of the scapulae and the iliac wings of the pelvis." "" + "Hailey-Hailey disease" "Benign chronic familial pemphigus of Hailey-Hailey is characterized by rhagades mostly located in the armpits, inguinal and perineal folds (scrotum, vulva)." "" + "pemphigus vulgaris" "Pemphigus is a group of chronic autoimmune skin diseases characterized by blister formations on the outer layer of the skin and the mucous membranes. Three clinical forms have been characterised, of which pemphigus vulgaris is the most frequent (75%)." "" + "obsolete pepsinogen 3, group 1" "" "true" + "prolidase deficiency" "Prolidase deficiency is an inherited disorder of peptide metabolism characterized by severe skin lesions, recurrent infections (involving mainly the skin and respiratory system), dysmorphic facial features, variable cognitive impairment, and splenomegaly." "" + "inborn disorder of peptide metabolism" "" + "metabolic disease with skin involvement" "True" + "Andersen-Tawil syndrome" "Andersen's syndrome (AS) is a rare disorder characterized by periodic muscle paralysis, prolongation of the QT interval with a variety of ventricular arrhythmias (leading to predisposition to sudden cardiac death) and characteristic physical features: short stature, scoliosis, low-set ears, hypertelorism, broad nasal root, micrognathia, clinodactyly, brachydactyly and syndactyly." "" + "hypokalemic periodic paralysis" "Hypokalemic periodic paralysis (hypoPP) is characterised by episodes of muscle paralysis lasting from a few to 24-48 hours and associated with a fall in blood potassium levels." "" + "hyperkalemic periodic paralysis" "Hyperkalemic periodic paralysis (HyperPP) is a muscle disorder characterized by episodic attacks of muscle weakness associated with an increase in serum potassium concentration." "" + "normokalemic periodic paralysis" "" + "periodontitis, aggressive 1" "A localized aggressive periodontitis, formerly called localized juvenile periodontitis. It is a destructive form of periodontitis characterized by ALVEOLAR BONE LOSS of the MOLARS and INCISORS. Inflammation and loss of PERIODONTIUM that is characterized by rapid attachment loss and bone destruction in the presence of little local factors such as DENTAL PLAQUE and DENTAL CALCULUS. This highly destructive form of periodontitis often occurs in young people and was called early-onset periodontitis, but this disease also appears in old people." "" + "peripheral dysostosis" "" + "pernicious anemia" "Megaloblastic anemia caused by vitamin B-12 deficiency due to impaired absorption. The impaired absorption of vitamin B-12 is secondary to atrophic gastritis and loss of gastric parietal cells." "" + "peroneal nerve, accessory deep" "" + "peroxidase, salivary" "" + "Peyronie disease" "A condition characterized by hardening of the penis due to the formation of fibrous plaques on the dorsolateral aspect of the penis, usually involving the membrane (tunica albuginea) surrounding the erectile tissue (corpus cavernosum penis). This may eventually cause a painful deformity of the shaft or constriction of the urethra, or both." "" + "phagocytosis, plasma-related defect 1N" "" + "pheochromocytoma" "" + "multiple endocrine neoplasia type 2A" "Multiple endocrine neoplasia 2A (MEN2A) syndrome is a form of MEN2 characterized by medullary thyroid carcinoma (MTC) in combination with pheochromocytoma and primary mild hyperparathyroidism resulting from hyperplasia or adenoma of the parathyroid cells." "" + "pheochromocytoma-islet cell tumor syndrome" "" + "phlebectasia of lips" "" + "phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome" "Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome is characterised by phocomelia (involving arms more severely), ectrodactyly, ear anomalies (bilateral anomalies of the pinnae), conductive deafness, dysmorphism (long and prominent philtrum, mild maxillary hypoplasia) and sinus arrhythmia. It has been described in four patients (a father and his son and a mother and her daughter) from two unrelated families." "" + "phosphatase, acid, of tissues" "" + "phosphoglucomutase 4" "" + "6-phosphogluconolactonase deficiency" "" + "phosphoglycoprotein 1" "" + "photomyoclonus, diabetes mellitus, deafness, nephropathy, and cerebral dysfunction" "" + "Pick disease" "A rare neurodegenerative disorder leading to dementia. It is characterized by frontotemporal lobar degeneration with accumulation of tau proteins which form Pick bodies." "" + "cerebral degeneration" "A neurodegenerative disease that involves the telencephalon." "" + "piebaldism" "Piebaldism is a rare congenital pigmentation skin disorder characterized by the presence of hypopigmented and depigmented skin areas (leukoderma) on various parts of the body, preferentially on the forehead, chest, abdomen, upper arms, and lower extremities, that are associated with a white forelock (poliosis), and in some cases with hypopigmented and depigmented eyebrows and eyelashes." "" + "obsolete eyebrow/eyelashes pigmentation anomaly" "" "true" + "albinism" "A congenital disorder characterized by partial or complete absence of melanin pigment in the eyes, hair, or skin." "" + "piebald trait-neurologic defects syndrome" "Piebald trait-neurologic defects syndrome is a rare, genetic, pigmentation anomaly of the skin syndrome characterized by ventral as well as dorsal leukoderma of the trunk and a congenital white forelock, in association with cerebellar ataxia, impaired motor coordination, intellectual disability of variable severity and progressive, mild to profound, uni- or bilateral sensorineural hearing loss. There have been no further descriptions in the literature since 1971." "" + "pigmented paravenous retinochoroidal atrophy" "Pigmented paravenous retinochoroidal atrophy (PPRCA) is a rare, commonly bilateral and symmetric retinal disease characterized by non-progressive or slowly progressive chorioretinal atrophy, peripapillary pigmentary changes and accumulation of ''bone-corpuscle'' pigmentation along the retinal veins and which is usually asymptomatic or can present with mild blurred vision." "" + "robin sequence-oligodactyly syndrome" "Robin sequence-oligodactyly syndrome is a rare, genetic, developmental defect during embryogenesis syndrome characterized by Robin sequence (i.e. severe micrognathia, retroglossia and U-shaped cleft of the posterior palate) associated with pre- and postaxial oligodactyly. Facial features can include a narrow face and narrow lower dental arch. Clinodactyly, absent phalanx, metacarpal fusions, and hypoplastic carpals have also been reported. There have been no further descriptions in the literature since 1986." "" + "pigmented purpuric eruption" "" + "pilonidal sinus" "A hair-containing cyst or sinus, occurring chiefly in the coccygeal region." "" + "isolated growth hormone deficiency type II" "" + "familial pityriasis rubra pilaris" "A rare chronic papulosquamous disorder of unknown etiology characterized by small follicular papules, scaly red-orange patches, and palmoplantar hyperkeratosis, which may progress to plaques or erythroderma. Although most of the cases are sporadic and acquired, a familial form of the disease exists." "" + "pityriasis rubra pilaris" "A group of skin conditions that cause constant inflammation and scaling of the skin. People with PRP have reddish, scaly patches that may occur everywhere on the body, or only on certain areas. Some people with PRP also develop thickened skin on the underside of the hands and feet (palmoplantar keratoderma), various nail abnormalities, and/or thinning of the hair. There are several types of PRP classified by age when symptoms begin, body areas involved, and whether other conditions are present. This condition occurs in adults (adult onset PRP) as well as children (juvenile onset PRP)." "" + "platelet adenylate cyclase activity" "" + "platelet aggregation, spontaneous" "" + "platelet disorder, undefined" "" + "platelet factor 3 deficiency" "" + "platelet membrane fluidity" "" + "platelet responsiveness to adrenaline, depressed" "" + "platelet signal processing defect" "" + "familial spontaneous pneumothorax" "Familial spontaneous pneumothorax is a rare, genetic pulmonary disease characterized by the uni- or bilateral accumulation of air in the pleural cavity in persons with a positive family history and no underlying lung disease or previous chest trauma. Patients typically present dyspnea associated with acute onset of sharp and steady pleutiric chest pain of variable severity (which resolves within 24h even though pneumothorax is still present). Reflex tachycardia and/or respiratory or circulatory compromise may be observed. Other syndromes (e.g. Birt-Hogg-Dube, Marfan or Ehlers-Danlos syndromes) may be associated." "" + "Kindler syndrome" "Kindler syndrome (KS) is the fourth major type of epidermolysis bullosa (EB), besides simplex, junctional and dystrophic forms, and is characterized by skin fragility and blistering at birth followed by development of photosensitivity and progressive poikilodermatous skin changes." "" + "hereditary sclerosing poikiloderma, Weary type" "" + "hereditary poikiloderma" "" + "Poland syndrome" "Poland syndrome is marked by a unilateral absence or hypoplasia of the pectoralis major muscle (most frequently involving the sternocostal portion), and a variable degree of ipsilateral hand anomalies, including symbrachydactyly." "" + "syndromic breast hypoplasia/aplasia" "" + "polycystic kidney disease 1" "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." "" + "polycystic liver disease 1" "A polycystic liver disease in which the cause of the disease is a mutation in the PRKCSH gene, and is characterized by the appearance of numerous cysts spread throughout the liver." "" + "polydactyly, postaxial, type A1" "" + "postaxial polydactyly type A" "" + "orofaciodigital syndrome V" "Oral-facial-digital syndrome, type 5 is characterized by median cleft of the upper lip, postaxial polydactyly of hands and feet, and oral manifestations (duplicated frenulum)." "" + "polydactyly-myopia syndrome" "Polydactyly-myopia syndrome is an exceedingly rare autosomal dominant developmental anomaly reported in 1986 in nine individuals among four generations of the same family. The syndrome is characterized clinically by four-limb postaxial polydactyly and progressive myopia. There have been no further descriptions in the literature since 1986." "" + "polydactyly of a biphalangeal thumb" "Polydactyly of a biphalangeal thumb or PPD1 is the most common form of preaxial polydactyly of fingers, a limb malformation syndrome, that is characterized by the duplication of one or more skeletal components of a biphalangeal thumb. Hands are preferentially affected (in bilateral), and the right hand is more commonly involved than the left." "" + "preaxial polydactyly of fingers" "Preaxial polydactyly of fingers is a limb malformation syndrome characterized by the attachment of a superfluous digit on the first digit. Four types have been defined: Type I (PPD1 or biphalangeal thumb polydactyly) which shows duplication of one or more skeletal components of a biphalangeal thumb; type II (PPD2 or polydactyly of a triphalangeal thumb) which involves the presence of a usually opposable triphalangeal thumb with or without additional duplication of thumb; type III (PPD3 or polydactyly of an index finger) where the thumb is replaced by one or two triphalangeal digits with dermatoglyphic pattern specific for the index finger; and type IV (PPD4 or polysyndactyly) which shows variably mild degrees of thumb duplication and variable syndactyly between 3rd and 4th fingers. Among the four types, PPD1 is the most frequent form. Preaxial polydactyly of fingers is caused by disruptions to the developmental patterning of the limb along the anterior-posterior axis that lead to changes in digit number and identity." "" + "polydactyly of a triphalangeal thumb" "Polydactyly of a triphalangeal thumb or PPD2 is a form of preaxial polydactyly of fingers, a limb malformation syndrome, that is characterized by the presence of a usually opposable triphalangeal thumb with or without additional duplication of one or more skeletal components of the thumb. The thumb appearance can differ widely in shape (wedge to rectangular) or it can be deviated in the radio-ulnar plane (clinodactyly). PPD2 is also associated with systemic syndromes, including Holt-Oram syndrome and Fanconi anemia." "" + "polydactyly of an index finger" "Polydactyly of an index finger or PPD3 is a form of preaxial polydactyly of fingers, a limb malformation syndrome, where the thumb is replaced by one or two triphalangeal digits with dermatoglyphic pattern specific of the index finger. Two forms of PPD3 have been characterized: unilateral and bilateral. There have been no further descriptions in the literature since 1962." "" + "polysyndactyly 4" "Polysyndactyly or PPD4 is a form of preaxial polydactyly of fingers, a limb malformation syndrome, characterized by the presence of a thumb showing the mildest degree of duplication, being broad, bifid or with radially deviated distal phalanx. Syndactyly of various degrees of third-and-fourth fingers is occasionally present." "" + "actinic prurigo" "" + "polyostotic fibrous dysplasia" "Fibrous dysplasia affecting more than one bone. When it is associated with café-au-lait skin pigmentation and endocrine disorders, it is known as McCune-Albright syndrome." "" + "familial expansile osteolysis" "" + "generalized juvenile polyposis/juvenile polyposis coli" "" + "juvenile polyposis syndrome" "Juvenile gastrointestinal polyposis (JIP) is a rare condition characterized by the presence of juvenile hamartomatous polyps in the gastrointestinal (GI) tract." "" + "juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome" "" + "obsolete familial adenomatous polyposis type 1" "" "true" + "pigmented conjunctival lesion" "" + "polyposis, intestinal, scattered and discrete" "" + "polyposis, intestinal, with multiple exostoses" "" + "Cronkhite-Canada syndrome" "Cronkhite-Canada syndrome (CCS) is a rare gastrointestinal (GI) polyposis syndrome characterized by the association of non-hereditary GI polyposis with the cutaneous triad of alopecia, nail changes and hyperpigmentation." "" + "polyposis of gastric fundus without polyposis coli" "" + "polyps, multiple and recurrent inflammatory fibroid, gastrointestinal" "" + "crossed polysyndactyly" "Crossed polysyndactyly is a rare, genetic, congenital limb malformation disorder characterized by unilateral or bilateral postaxial polydactyly in the hands and preaxial polydactyly in the feet, associated with bilateral cutaneous syndactyly of first, second and third toes. Cutaneous syndactyly in hands has also been reported in some patients. There have been no further descriptions in the literature since 1994." "" + "Greig cephalopolysyndactyly syndrome" "Greig cephalopolysyndactyly syndrome (GCPS) is a pleiotropic, multiple congenital anomaly syndrome." "" + "popliteal cyst" "A synovial cyst located in the back of the knee, in the popliteal space arising from the semimembranous bursa or the knee joint." "" + "brain small vessel disease 1 with or without ocular anomalies" "Any porencephaly in which the cause of the disease is a mutation in the COL4A1 gene." "" + "familial porencephaly" "An instance of porencephaly that is caused by an inherited modification of the individual's genome." "" + "COL4A1 or COL4A2-related cerebral small vessel disease with hemorrhagic tendancy" "True" + "porokeratosis 1, Mibelli type" "" + "porokeratosis of Mibelli" "Porokeratosis of Mibelli (PM) is a form of porokeratosis that is characterized by the presence of brown single or multiple annular plaques of varying size, that are sometimes confluent, with a distinctive sharply-defined keratotic border." "" + "porokeratosis plantaris palmaris et disseminata" "Porokeratosis plantaris palmaris et disseminata (PPPD) is a rare form of porokeratosis occurring mainly in adolescence and characterized by small pruritic or painful keratotic papules that first appear on the palms and soles, and may gradually become generalized." "" + "isolated punctate palmoplantar keratoderma" "A punctate palmoplantar keratoderma that is not part of a larger syndrome." "" + "punctate palmoplantar keratoderma type 2" "Punctate palmoplantar keratoderma type 2 is a type of isolated, punctate, hereditary palmoplantar keratoderma characterized by multiple, asymptomatic, 1 to 2 mm-long, firm, hyperkeratotic projections (\"spiny keratosis\") on the palms, soles and digits (typically confined to their volar and/or lateral aspects). Histopathologically, compact columnar parakeratosis over hypo- or agranular epidermis is observed." "" + "porokeratosis 3, disseminated superficial actinic type" "" + "disseminated superficial actinic porokeratosis" "Disseminated superficial actinic porokeratosis (DSAP) is the most common form of porokeratosis characterized by the presence of several small annular plaques with a distinctive keratotic rim found most commonly on sun-exposed areas of the skin, particularly the extremities." "" + "acute intermittent porphyria" "Acute intermittent porphyria is the most frequent and the most severe form of the acute hepatic porphyrias. It is characterized by the occurrence of neuro-visceral attacks without cutaneous manifestations." "" + "sporadic porphyria cutanea tarda" "An instance of porphyria cutanea tarda that is acquired during the lifetime of the individual." "" + "porphyria cutanea tarda" "Porphyria cutanea tarda (PCT) is the most common form of chronic hepatic porphyria. It is characterized by bullous photodermatitis." "" + "familial porphyria cutanea tarda" "An instance of porphyria cutanea tarda that is caused by an inherited modification of the individual's genome." "" + "variegate porphyria" "Variegate porphyria is a form of acute hepatic porphyria characterized by the occurrence of neuro-visceral attacks with or without the presence of cutaneous lesions." "" + "postaxial tetramelic oligodactyly" "Postaxial tetramelic oligodactyly is a rare, genetic, congenital limb malformation disorder characterized by isolated, postaxial oligodactyly in all four extremities. Patients present a consistent pattern of malformation ranging from complete absence of the 5th metacarpals, metatarsals and phalanges to complete absence of the 5th metacarpals and metatarsals, with some residual distal 5th phalanges. There have been no further descriptions in the literature since 1993." "" + "posterior column ataxia" "" + "Prader-Willi syndrome" "Prader-Willi syndrome is a rare genetic disorder characterized by hypothalamic-pituitary abnormalities with severe hypotonia during the neonatal period and first two years of life and the onset of hyperphagia with a risk of morbid obesity during infancy and adulthood, learning difficulties and behavioral problems or severe psychiatric problems." "" + "female infertility due to a congenital hypogonadotropic hypogonadism" "True" + "Guttmacher syndrome" "Guttmacher syndrome is an extremely rare syndrome characterized by hypoplastic thumbs and halluces, 5th finger clinobrachydactyly, postaxial polydactyly of the hands, short or uniphalangeal 2nd toes with absent nails and hypospadias." "" + "centra precocious puberty 1" "Any central precocious puberty in which the cause of the disease is a mutation in the KISS1R gene." "" + "central precocious puberty" "Central precocious puberty (CPP), also referred to as gonadotropin dependent precocious puberty, is an endocrine-related developmental disease characterized by the onset of pubertal changes, with development of secondary sexual characteristics and accelerated growth and bone maturation, before the normal age of puberty (8 years in girls and 9 years in boys)." "" + "familial male-limited precocious puberty" "Familial male limited precocious puberty (FMPP) is a gonadotropin-independent familial form of male-limited precocious puberty, generally presenting between 2-5 years of age as accelerated growth, early development of secondary sexual characteristics and reduced adult height." "" + "premature chromatid separation trait" "" + "Currarino triad" "Currarino syndrome (CS) is a rare congenital disease characterized by the triad of anorectal malformations (ARMs) (usually anal stenosis), presacral mass (commonly anterior sacral meningocele (ASM) or teratoma) and sacral anomalies (i.e. total or partial agenesis of the sacrum and coccyx or deformity of the sacral vertebrae)." "" + "ABri amyloidosis" "A cerebral amyloid angiopathy characterized by onset in the 4th to 6th decade of life, progressive mental deterioration, spasticity, muscular rigidity but no tremors, spontaneous movements or sensory changes that has material basis in an autosomal dominant mutation of ITM2B on chromosome 13q14.2." "" + "presenile dementia, Kraepelin type" "" + "priapism, familial idiopathic" "" + "primary release disorder of platelets" "" + "Hutchinson-Gilford progeria syndrome" "Hutchinson-Gilford progeria syndrome is a rare, fatal, autosomal dominant and premature aging disease, beginning in childhood and characterized by growth reduction, failure to thrive, a typical facial appearance (prominent forehead, protuberant eyes, thin nose with a beaked tip, thin lips, micrognathia and protruding ears) and distinct dermatologic features (generalized alopecia, aged-looking skin, sclerotic and dimpled skin over the abdomen and extremities, prominent cutaneous vasculature, dyspigmentation, nail hypoplasia and loss of subcutaneous fat)." "" + "progeria" "" + "progeria-short stature-pigmented nevi syndrome" "Progeria-short stature-pigmented nevi is a progeroid disorder characterised by low birthweight, short stature, multiple pigmented nevi and lack of facial subcutaneous fat." "" + "autosomal dominant prognathism" "Malocclusion in which the mandible is anterior to the maxilla as reflected by the first relationship of the first permanent molar (mesioclusion)." "" + "pelvic organ prolapse, susceptibility to" "" + "pronation-supination of the forearm, impairment of" "" + "obsolete genetic urogenital tumor" "" "true" + "thrombophilia due to protein C deficiency, autosomal dominant" "" + "hereditary thrombophilia due to congenital protein C deficiency" "Congenital protein C deficiency is an inherited coagulation disorder characterized by deep venous thrombosis symptoms due to reduced synthesis and/or activity levels of protein C." "" + "proteolytic capacity of plasma" "" + "Proteus syndrome" "Proteus syndrome (PS) is a very rare and complex hamartomatous overgrowth disorder characterized by progressive overgrowth of the skeleton, skin, adipose, and central nervous systems." "" + "protoporphyria, erythropoietic, 1" "Erythropoietic protoporphyria caused by a compound heterozygous or homozygous mutation in the gene encoding ferrochelatase (FECH) on chromosome 18q21." "" + "autosomal erythropoietic protoporphyria" "Erythropoietic protoporphyria (EPP) is an inherited disorder of the heme metabolic pathway characterized by accumulation of protoporphyrin in blood, erythrocytes and tissues, and cutaneous manifestations of photosensitivity." "" + "Protrusio acetabuli" "" + "pruritus, hereditary localized" "" + "pseudoachondroplasia" "Pseudoachondroplasia is characterized by severe growth deficiency and deformations such as bow legs and hyperlordosis." "" + "Liddle syndrome" "Liddle syndrome is a rare inherited form of hypertension characterized by severe early-onset hypertension associated with decreased plasmatic levels of potassium, renin and aldosterone." "" + "pseudoarthrogryposis" "" + "Pseudoatrophoderma colli" "" + "pseudocholinesterase, increase in plasma level of" "True" + "exfoliation syndrome" "An autosomal dominant disorder caused by mutations in the LOXL1 gene, encoding lysyl oxidase homolog 1. The condition is characterized by abnormal fibrillar extracellular material in anterior segment tissues, and may lead to glaucoma." "" + "glaucoma 1, open angle, P" "" + "autosomal dominant pseudohypoaldosteronism type 1" "Renal pseudohypoaldosteronism type 1 (renal PHA1) is a mild form of primary mineralocorticoid resistance restricted to the kidney." "" + "pseudohypoaldosteronism type 1" "Pseudohypoaldosteronism type 1 (PHA1) is a primary form of mineralocorticoid resistance presenting in the newborn with renal salt wasting, failure to thrive and dehydration." "" + "pseudomonilethrix" "" + "obsolete pseudopapilledema" "Apparent optic disc swelling in the absence of increased intracranial pressure." "" "true" + "pseudo-von Willebrand disease" "Platelet type Von Willebrand disease (PT-VWD) is a bleeding disorder characterized by mild to moderate mucocutaneous bleeding, which becomes more pronounced during pregnancy or following ingestion of drugs that have anti-platelet activity. PT-VWD is due to hyperresponsive platelets, resulting in thrombocytopenia." "" + "hereditary von Willebrand disease" "Hereditary von Willebrand disease (VWD) is a hereditary bleeding disorder caused by a genetic anomaly leading to quantitative, structural or functional abnormalities of the Willebrand factor (von Willebrand factor; VWF). Two major groups of VWF deficiency have been defined: quantitative and partial (type 1) or total (type 3), and qualitative (type 2) with several subtypes (2A, 2B, 2M, 2N)." "" + "pseudoxanthoma elasticum, forme fruste" "An autosomal dominant form of PXE." "" + "inherited pseudoxanthoma elasticum" "An inheritable form of pseudoxanthoma elasticum (PXE), that causes calcium and other minerals to accumulate in the elastic fibers of the skin, eyes, and blood vessels, and less frequently in other areas such as the digestive tract. PXE may cause the following symptoms: growth of yellowish bumps on the skin of the neck, under the arms, or in the groin area; reduced vision; periodic weakness in the legs (claudication); or bleeding in the gastrointestinal tract, particularly the stomach. A clinical diagnosis of PXE can be made when an individual is found to have both the characteristic eye findings and yellow bumps on the skin. ABCC6 is the only gene known to be associated with this condition. Currently, there is no treatment for this condition, but affected individuals may benefit from routine visits to an eye doctor who specializes in retinal disorders, and by having regular physical examinationswith their primary physician." "" + "autosomal recessive inherited pseudoxanthoma elasticum" "An autosomal recessive form of PXE." "" + "psoriasis 1, susceptibility to" "Any psoriasis in which the cause of the disease is a mutation in the HLA-C gene." "" + "short stature-craniofacial anomalies-genital hypoplasia syndrome" "Short stature-craniofacial anomalies-genital hypoplasia syndrome is characterized by the association of short stature, craniofacial anomalies and genital hypoplasia. Intellectual deficit is also found in the majority of cases, sometimes together with pterygia. Less than 20 cases have been described so far. The mode of transmission is likely to be autosomal dominant with incomplete penetrance. The syndrome is caused by unbalanced reciprocal translocations of the distal parts of chromosomes 6q and 9p, leading to partial trisomy of the distal region of chromosome 6q and partial monosomy of the distal region of chromosome 9p." "" + "pterygium colli, isolated" "" + "familial pterygium of the conjunctiva" "Familial pterygium of the conjunctiva is a rare form of pterygium, which develops in early adulthood, characterized by a wing-like bulbar thickening of the conjunctiva in the interpalpebral fissure area that can be cured by surgical excision." "" + "contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A" "" + "multiple pterygium syndrome" "" + "contractures, pterygia, and variable skeletal fusions syndrome" "" + "antecubital pterygium syndrome" "" + "congenital ptosis" "Congenital ptosis is characterized by superior eyelid drop present at birth." "" + "ptosis-strabismus-ectopic pupils syndrome" "Ptosis-strabismus-ectopic pupils syndrome is characterised by the association of ptosis, strabismus and ectopic pupils. It has been described in one family (in a mother and three of her children). Transmission is autosomal dominant." "" + "pubic bone dysplasia" "" + "pulmonary atresia with ventricular septal defect" "Pulmonary atresia with ventricular septal defect (PA-VSD) is a rare cyanotic congenital heart malformation characterized by underdevelopment of the right ventricular outflow tract and atresia of the pulmonary valve, ventricular septal defect (VSD) and pulmonary collateral vessels. Clinical features depend on the anatomic variability of the lesion and patients may be minimally symptomatic, severely cyanotic or may develop congestive heart failure. PA-VSD may represent a severe form of Tetralogy of Fallot." "" + "conotruncal heart malformations" "Conotruncal heart malformations are a group of congenital cardiac outflow tract anomalies that include such defects as tetralogy of Fallot, pulmonary atresia with ventricular septal defect, double-outlet right ventricle (DORV), double-outlet left ventricle, truncus arteriosus and transposition of the great arteries (TGA), among others. This group of defects is frequently found in patients with 22q11.2 deletion syndrome. A deletion of chromosome 22q11.2 has equally been associated in a subset of patients with various types of isolated non-syndromic conotruncal heart malformations (with the exception of DORV and TGA where this is very uncommon)." "" + "pulmonary edema of mountaineers, susceptibility to" "" + "idiopathic pulmonary fibrosis" "Idiopathic pulmonary fibrosis (IPF) is a nonneoplastic pulmonary disease that is characterized by the formation of scar tissue within the lungs in the absence of any known cause." "" + "pulmonary hemosiderosis" "Idiopathic pulmonary hemosiderosis is a respiratory disease due to repeated episodes of diffuse alveolar hemorrhage without any underlying apparent cause, most often in children. Anemia, cough, and pulmonary infiltrates on chest radiographs are found in majority of the patients." "" + "primary interstitial lung disease in childhood and adulthood" "" + "idiopathic and/or familial pulmonary arterial hypertension" "Idiopathic and/or familial pulmonary arterial hypertension (IFPAH) is a form or pulmonary arterial hypertension (PAH, see his term) characterized by elevated pulmonary arterial resistance leading to right heart failure; it is progressive and potentially fatal. About 75% of heritable pulmonary arterial hypertension (HPAH) have an identified mutation. HPAH has been linked to mutations in BMPR2 in 75% of cases; other genes implicated in HPAH include ACVR1, BMPR1, CAV1, ENG and SMAD9 and CBLN2. (However, the majority of patients carrying an HPAH mutation do not develop PAH). Idiopathic pulmonary arterial hypertension (IFPAH) refers to those cases of pulmonary arterial hypertension in which etiology remains unknown." "" + "pulmonary arterial hypertension" "Pulmonary arterial hypertension (PAH) is a group of diseases characterized by elevated pulmonary arterial resistance leading to right heart failure. PAH is progressive and potentially fatal. PAH may be idiopathic and/ or familial, or induced by drug or toxin (drug-or toxin-induced PAH) or associated with other diseases like congenital heart disease, connective tissue disease, HIV, schistosomiasis, portal hypertension (PAH associated with other disease)." "" + "obsolete rare genetic respiratory disease" "Rare genetic respiratory system disease." "True" "true" + "pulmonary nodular lymphoid hyperplasia" "Pulmonary nodular lymphoid hyperplasia (PNHL) is a reactive lymphoid proliferation manifesting as solitary or multiple nodules in the lung." "" + "pulmonic stenosis, atrial septal defect, and unique electrocardiographic abnormalities" "" + "pulmonic stenosis and deafness" "" + "pupil, egg-shaped" "True" + "pupillary membrane, persistence of" "" + "pruritic urticarial papules and plaques of pregnancy" "" + "purpura simplex" "" + "pyloric stenosis, infantile hypertrophic, 1" "" + "inherited hypertrophic pyloric stenosis" "An instance of hypertrophic pyloric stenosis that is inherited." "" + "radial heads, posterior dislocation of" "" + "radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome" "Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome is characterised by symmetric, nonopposable triphalangeal thumbs and radial hypoplasia. It has been described in eight patients (five females and three males) spanning generations of a family. The affected males also presented with hypospadias. The syndrome is inherited as an autosomal dominant trait." "" + "radial ray hypoplasia-choanal atresia syndrome" "Radial ray hypoplasia - choanal atresia is an extremely rare syndrome characterized by radial ray hypoplasia, choanal atresia and convergent strabismus." "" + "radio-renal syndrome" "Radio-renal syndrome is a rare developmental defect during embryogenesis characterized by variable upper limb reduction defects and renal anomalies. Patients typically present absence/hypoplasia of digits, radii and/or ulnae, short stature and mild external ear malformation, as well as kidney agenesis or ectopia. There have been no further descriptions in the literature since 1983." "" + "obsolete radioulnar synostosis" "" "true" + "radius, aplasia of, with cleft lip/palate" "" + "ragweed sensitivity" "" + "raindrop hypopigmentation" "" + "Raynaud disease" "An episodic vasoconstriction resulting in discoloration of the skin and pain in the affected areas, often involving fingers or toes. Classically associated with triphasic color changes (white, blue, red) but may be biphasic. Often occurs in response to cold temperatures or emotional stress. May be primary or secondary to an underlying autoimmune disease." "" + "recombinant 8 syndrome" "Recombinant 8 (rec(8)) syndrome, also known as San Luis Valley syndrome, is a complex chromosomal disorder that is due to a parental pericentric inversion of chromosome 8 and is characterized by major congenital heart anomalies, urogenital malformations, moderate to severe intellectual deficiency and mild craniofacial dysmorphism." "" + "red cell permeability defect" "" + "red cell phospholipid defect with hemolysis" "" + "autosomal dominant distal renal tubular acidosis" "Autosomal dominant distal renal tubular acidosis (AD dRTA) is an inherited form of distal renal tubular acidosis (dRTA) characterized by hyperchloremic metabolic acidosis often but not always associated with hypokalemia." "" + "distal renal tubular acidosis" "Distal renal tubular acidosis (dRTA) is a disorder of impaired net acid secretion by the distal tubule characterized by hyperchloremic metabolic acidosis. The classic form is often associated with hypokalemia whereas other forms of acquired dRTA may be associated with hypokalemia, hyperkalemia or normokalemia." "" + "proximal renal tubular acidosis" "Proximal renal tubular acidosis (pRTA) is a tubular kidney disease characterized by impaired ability of the proximal tubule to reabsorb bicarbonate from the glomerular filtrate leading to hyperchloremic metabolic acidosis." "" + "primary renal tubular acidosis" "" + "reticular dystrophy of retinal pigment epithelium" "" + "reticular dystrophy of the retinal pigment epithelium" "Reticular dystrophy of the retinal pigment epithelium is a patterned dystrophy of the retinal pigment epithelium, of progressive course, characterized by the presence of a bilateral hyperpigmented reticular pattern resembling a fishnet with knots, resulting in a slowly progressive loss of vision that often only becomes apparent in old age. Reticular dystrophy of the retinal pigment epithelium is sometimes associated with scleral staphyloma, choroidal neovascularization, convergent strabismus, spherophakia with myopia and luxated lenses, and partial atrophy of the iris." "" + "Dowling-Degos disease" "A pigmentation disease characterized by a reticulate pattern of abnormally dark skin coloring, particularly in the body's folds and creases." "" + "disorder of fucoglycosan synthesis" "" + "retinal aplasia" "" + "Leber congenital amaurosis" "Leber congenital amaurosis (LCA) is a retinal dystrophy defined by blindness and responses to electrophysiological stimulation (Ganzfeld electroretinogram (ERG)) below threshold, associated with severe visual impairment within the first year of life." "" + "retinal arterial tortuosity" "" + "retinal cone dystrophy type 1" "" + "retinal venous beading" "" + "retinitis pigmentosa 1" "Any retinitis pigmentosa in which the cause of the disease is a mutation in the RP1 gene." "" + "retinitis pigmentosa 9" "Any retinitis pigmentosa in which the cause of the disease is a mutation in the RP9 gene." "" + "retinitis pigmentosa 10" "Any retinitis pigmentosa in which the cause of the disease is a mutation in the IMPDH1 gene." "" + "obsolete hereditary eye tumor" "" "true" + "inherited vitreous-retinal disease" "" + "dominant pericentral pigmentary retinopathy" "A retinitis pigmentosa that is characterized pigmentary retinal degeneration with onset in the teens leading to blindness in the sixth ans seventh decades of life." "" + "retinoschisis, autosomal dominant" "Autosomal dominant form of retinoschisis." "" + "rheumatoid nodulosis" "A particular variant of polyarthritis associated with early manifestations of palindromic rheumatism, radiologic subchondral bone cysts, and subcutaneous rheumatoid nodules." "" + "polyarticular arthritis" "An arthritis affecting five or more separate joints." "" + "rhiny" "" + "Axenfeld-Rieger syndrome type 1" "A rare autosomal dominant syndrome linked to mutations in the PITX2 gene. It is characterized by abnormalities in the anterior chamber of the eye and underdevelopment of the teeth." "" + "Axenfeld-Rieger syndrome" "Axenfeld-Rieger syndrome (ARS) is a generic term used to designate overlapping genetic disorders, in which the major physical condition is anterior segment dysgenesis of the eye. Patients with ARS may also present with multiple variable congenital anomalies." "" + "ring dermoid of cornea" "Ring dermoid of cornea is characterised by annular limbal dermoids (growths with a skin-like structure) with corneal and conjunctival extension. Less than 30 cases have been described. Transmission is autosomal dominant and mutations in the PITX2 gene have been suggested as a potential cause of the condition." "" + "ringed hair disease" "Pili annulati is an isolated, benign hair shaft abnormality, usually presenting after the age of 2 and affecting the hair of the scalp or very rarely beard, axillary, or pubic hair, that is characterized by a banded or speckled appearance due to alternating light bands (corresponding to air-filled cavities within the cortex of the affected hair shafts) and dark bands. The bands have a lifelong duration, may only be detectable under light microscopy, are more apparent in fair-colored hair or with age-related graying, and have no effect on hair growth or fragility in the vast majority of cases." "" + "autosomal dominant Robinow syndrome" "Autosomal dominant Robinow syndrome (DRS) is the more common type of Robinow syndrome (RS) characterized by mild to moderate limb shortening and abnormalities of the head, face and external genitalia." "" + "Robinow syndrome" "Robinow syndrome (RS) is a rare genetic syndrome characterized by limb shortening and abnormalities of the head, face and external genitalia." "" + "Rombo syndrome" "Rombo syndrome is characterized by vermiculate atrophoderma, milia, hypotrichosis, trichoepitheliomas, peripheral vasodilation with cyanosis and basal cell carcinomas." "" + "Robinow-Sorauf syndrome" "" + "Roussy-Levy syndrome" "" + "Rubinstein-Taybi syndrome due to CREBBP mutations" "Any Rubinstein-Taybi syndrome in which the cause of the disease is a mutation in the CREBBP gene." "" + "Rubinstein-Taybi syndrome" "A rare malformation syndrome characterized by congenital anomalies (microcephaly, specific facial characteristics, broad thumbs and halluces and postnatal growth retardation), short stature, intellectual disability and behavioural characteristics." "" + "Silver-Russell syndrome" "Silver-Russell syndrome is characterized by growth retardation with antenatal onset, characteristic facies and limb asymmetry." "" + "Ruvalcaba syndrome" "Ruvalcaba syndrome is an extremely rare malformation syndrome, described in less than 10 patients to date, characterized by microcephaly with characteristic facies (downslanting parpebral fissures, microstomia, beaked nose, narrow maxilla), very short stature, narrow thoracic cage with pectus carinatum, hypoplastic genitalia and skeletal anomalies (i.e. characteristic brachydactyly and osteochondritis of the spine) as well as intellectual and developmental delay." "" + "X-linked syndromic intellectual disability" "A syndromic intellectual disability with an X-linked mode of inheritance." "" + "oculodental syndrome, Rutherfurd type" "Oculodental syndrome, Rutherfurd type is a rare genetic disorder that is primarily characterized by the classical triad of gingival fibromatosis, non-eruption of tooth and corneal dystrophy (bilateral corneal vascularization and opacity). Abnormally shaped teeth have also been reported. The syndrome is transmitted as an autosomal dominant trait." "" + "aplasia of lacrimal and salivary glands" "Aplasia of the lacrimal and salivary glands (ALSG) is a rare autosomal dominant disorder characterized by aplasia, atresia or hypoplasia of the lacrimal and salivary glands leading to varying features since infancy such as recurrent eye infections, irritable eyes, epiphora, xerostomia, dental caries, dental erosion and oral inflammation." "" + "salivary substance, Clostridium botulinum type" "" + "sarcoidosis, susceptibility to, 1" "Any sarcoidosis in which the cause of the disease is a mutation in the HLA-DRB1 gene." "" + "salivary duct calculi" "Presence of small calculi in the terminal salivary ducts (salivary sand), or stones (larger calculi) found in the larger ducts." "" + "pleomorphic adenoma" "A neoplasm characterized by the presence of benign epithelial and myoepithelial cells and a mesenchymal component that may contain mucoid, myxoid, cartilaginous, or osseous areas. It may be completely or partially encapsulated. It occurs in the parotid gland, submandibular gland, minor salivary glands in the oral cavity, upper respiratory tract, and nasal cavity and paranasal sinuses. It usually presents as a slow growing painless mass. Infrequently, patients may present with pain and facial palsy. It may recur after excision or transform to a malignant neoplasm (carcinoma ex pleomorphic adenoma)." "" + "benign epithelial tumor of salivary glands" "" + "cleft palate-large ears-small head syndrome" "Cleft palate-large ears-small head syndrome is a rare, genetic syndrome characterized by cleft palate, large protruding ears, microcephaly and short stature (prenatal onset). Other skeletal abnormalities (delayed bone age, distally tapering fingers, hypoplastic distal phalanges, proximally placed thumbs, fifth finger clinodactyly), Pierre Robin sequence, cystic renal dysplasia, proximal renal tubular acidosis, hypospadia, cerebral anomalies on imaging (enlargement of lateral ventricles, mild cortical atrophy), seizures, hypotonia and developmental delay are also observed." "" + "scalp defects-postaxial polydactyly syndrome" "Scalp defects-postaxial polydactyly syndrome is characterised by congenital scalp defects and postaxial polydactyly type A." "" + "scalp-ear-nipple syndrome" "Scalp-ear-nipple syndrome is characterised by the following triad: areas of hairless raw skin over the scalp (present at birth and healing during childhood), prominent, hypoplastic ears with almost absent pinnae, and bilateral amastia. Thirty cases have been described so far. Renal and urinary tract abnormalities, as well as cataract, have also been observed. Transmission is autosomal dominant." "" + "deficient breast volume or number" "" + "scapula, contour of vertebral border of" "True" + "autosomal recessive Emery-Dreifuss muscular dystrophy" "Autosomal recessive form of Emery-Dreifuss muscular dystrophy." "" + "neurogenic scapuloperoneal syndrome, Kaeser type" "" + "qualitative or quantitative defects of desmin" "" + "scapuloperoneal spinal muscular atrophy, autosomal dominant" "" + "MYH7-related late-onset scapuloperoneal muscular dystrophy" "" + "late-onset scapuloperoneal muscular dystrophy with hyaline bodies" "True" + "Scheuermann disease" "A disorder characterized by osteochondrosis of the vertebral epiphyses in childhood." "" + "ulnar-mammary syndrome" "Ulnar-mammary syndrome (UMS) is a rare developmental disorder characterized by ulnar defects, mammary and apocrine gland hypoplasia and genital anomalies. Delayed puberty dental anomalies, short stature and obesity have also been described." "" + "intestinal schistosomiasis" "An intestinal infection that is caused by Schistosoma japonicum." "" + "obsolete schizophrenia" "" "true" + "schizophrenia 1" "A schizophrenia that has material basis in an autosomal dominant mutation of SCZD1 on chromosome 5q23-q35." "" + "obsolete Scholte syndrome" "" "true" + "palmoplantar keratoderma-sclerodactyly syndrome" "" + "sclerocornea, autosomal dominant" "" + "sclerocornea" "A corneal disease in which the cornea blends with sclera, resulting in clouding of the cornea." "" + "scleroderma, familial progressive" "" + "scoliosis, isolated, susceptibility to, 1" "" + "flat face-microstomia-ear anomaly syndrome" "Flat face-microstomia-ear anomaly syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by dysmorphic facial features, including high forehead, elongated and flattened midface, arched and sparse eyebrows, short palpebral fissures, telecanthus, long nose with hypoplastic nostrils, long philtrum, high and narrow palate and microstomia with downturned corners. Ears are characteristically malformed, large, low-set and posteriorly rotated and nasal speech is associated. There have been no further descriptions in the literature since 1994." "" + "autosomal dominant sideroblastic anemia" "Autosomal dominant form of sideroblastic anemia." "" + "sideroblastic anemia" "Sideroblastic anemias (SA) are a group of rare heterogeneous inherited or acquired bone marrow disorders, isolated or part of a syndrome, characterized by decreased hemoglobin synthesis, because of defective use of iron (although plasmatic iron levels may be normal or elevated) and the presence of ringed sideroblasts in the bone marrow due to the pathologic iron overload in mitochondria as visualized by Perls' staining. The group encompasses (idiopathic) acquired sideroblastic anemia and constitutional sideroblastic anemias. The latter include syndromic sideroblastic anemias such as Pearson syndrome, mitochondrial mypathy and sideroblastic anemias, x-linked sideroblastic anemia-ataxia, thiamine responsive megaloblastic anemia syndrome and nonsyndromic sideroblastic anemias comprising x-linked and autosomal recessive sideroblastic anemias." "" + "sinus node disease and myopia" "" + "sella turcica, bridged" "" + "omphalocele syndrome, Shprintzen-Goldberg type" "Shprintzen-Goldberg omphalocele syndrome is a very rare inherited malformation syndrome characterized by omphalocele, scoliosis, mild dysmorphic features (downslanted palpebral fissures, s-shaped eyelids and thin upper lip), laryngeal and pharyngeal hypoplasia and learning disabilities." "" + "Shprintzen-Goldberg syndrome" "Shprintzen-Goldberg syndrome (SGS) is a very rare genetic disorder characterized by craniosynostosis, craniofacial and skeletal abnormalities, marfanoid habitus, cardiac anomalies, neurological abnormalities, and intellectual disability." "" + "sister chromatid exchange, frequency of" "" + "septooptic dysplasia" "Septooptic dysplasia (SOD) is a clinically heterogeneous disorder characterized by the classical triad of optic nerve hypoplasia, pituitary hormone abnormalities and midline brain defects." "" + "syndrome with a central nervous system malformation as major feature" "True" + "syndromic optic nerve hypoplasia" "" + "developmental defect of the eye" "" + "Singleton-Merten dysplasia" "Singleton-Merten dysplasia is characterized by dental dysplasia, progressive calcification of the thoracic aorta with stenosis, osteoporosis and expansion of the marrow cavities in hand bones. Additional features included generalized muscle weakness and atrophy, and chronic psoriasiform skin eruptions. It has been reported in four unrelated patients (male and female) and in a family with multiple affected members (male)." "" + "type 1 interferonopathy" "" + "skeletal dysplasia with delayed epiphyseal and carpal bone ossification" "" + "slipped femoral capital epiphyses" "A developmental deformity in which the metaphysis of the femur moves proximally and anteriorly away from femur head (epiphysis) at the upper growth plate. It is most common in male adolescents and is associated with a greater risk of early osteoarthritis of the hip." "" + "ketone compounds, ability to smell" "True" + "Smith-Magenis syndrome" "Smith-Magenis syndrome (SMS) is a complex genetic disorder characterized by variable intellectual deficit, sleep disturbance, craniofacial and skeletal anomalies, psychiatric disorders, and speech and motor delay." "" + "Somatomedin, embryonic" "" + "Sneddon syndrome" "Sneddon's syndrome (SS) is a rare non-inflammatory thrombotic vasculopathy characterized by the combination of cerebrovascular disease with livedo racemosa." "" + "hereditary spastic paraplegia 3A" "Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the ATL1 gene." "" + "hereditary spastic paraplegia" "Hereditary spastic paraplegias (HSP) comprise a genetically and clinically heterogeneous group of neurodegenerative disorders characterized by progressive spasticity and hyperreflexia of the lower limbs." "" + "pure or complex autosomal dominant spastic paraplegia" "" + "hereditary spastic paraplegia 4" "Autosomal dominant spastic paraplegia type 4 (SPG4) is a form of hereditary spastic paraplegia with high intrafamilial clinical variability, characterized in most cases as a pure phenotype with an adult onset (mainly the 3rd to 5th decade of life, but that can present at any age) of progressive gait impairment due to bilateral lower-limb spasticity and weakness as well as very mild proximal weakness and urinary urgency. In some cases, a complex phenotype is also reported with additional manifestations including cognitive impairment, cerebellar ataxia, epilepsy and neuropathy. A faster disease progression is noted in patients with a later age of onset." "" + "spastic paraplegia-epilepsy-intellectual disability syndrome" "" + "autosomal dominant complex spastic paraplegia" "Autosomal dominant form of complex hereditary spastic paraplegia." "" + "spastic paraplegia-nephritis-deafness syndrome" "This syndrome is characterised by variable spastic paraplegia, bilateral sensorineural deafness, intellectual deficit and progressive nephropathy." "" + "spastic paraplegia with associated extrapyramidal signs" "" + "spastic paraplegia-neuropathy-poikiloderma syndrome" "Spastic paraplegia-neuropathy-poikiloderma syndrome is a complex form of hereditary spastic paraplegia characterized by spastic paraplegia, demyelinating peripheral sensorimotor neuropathy, poikiloderma (manifesting with loss of eyebrows and eyelashes in childhood in addition to delicate, smooth, and wasted skin) and distal amyotrophy (presenting after puberty). There have been no further descriptions in the literature since 1992." "" + "spastic paraplegia-precocious puberty syndrome" "Spastic paraplegia-precocious puberty syndrome is characterized by precocious puberty (due to Leydig cell hyperplasia), progressive spastic paraplegia and intellectual deficit. It has been described in two brothers. The fact that other family members displayed brisk reflexes and dysarthria suggested autosomal dominant inheritance with variable expression." "" + "spastic paraplegia, optic atrophy, and dementia" "" + "delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome" "This syndrome is extremely rare and is characterized by delayed speech development, mild facial asymmetry, strabismus and transverse ear lobe creases." "" + "sperm protamine P4" "" + "hereditary spherocytosis type 1" "Any hereditary spherocytosis in which the cause of the disease is a mutation in the ANK1 gene." "" + "spheroid body myopathy" "Spheroid body myopathy is a rare form of myofibrillar myopathy characterized by predominantly proximal muscle weakness (that could be either non- or slowly progressive), associated with spheroid body inclusions (composed of myofilamentous material within individual muscle fibers) in skeletal muscle biopsy. Presentation is varied and may range from asymptomatic to severe muscle weakness that manifests with absent Achilles reflexes, gait abnormality and/or other motor incapacitations." "" + "myofibrillar myopathy 3" "A rare, late adult-onset myofibrillar myopathy characterized by progressive distal muscle weakness associated with peripheral neuropathy and hyporeflexia. Ambulation may be lost within a few years." "" + "neural tube closure defect" "A disease that has its basis in the disruption of neural tube closure." "" + "spinal arachnoiditis" "A chronic adhesive arachnoiditis in the spinal arachnoid, with root and spinal cord symptoms similar to those caused by pressure from a tumor." "" + "arachnoiditis" "Arachnoiditis (ARC) is a chronic inflammation of the arachnoid layer of the meninges, of which adhesive arachnoiditis is the most severe form, characterized by debilitating, intractable neurogenic back and limb pain and a range of other neurological problems." "" + "neuronopathy, distal hereditary motor, type 1" "An autosomal dominant neurodegenerative disorder characterized by juvenile onset, distal motor weakness without sensory impairment, and anterior horn cell degeneration." "" + "autosomal dominant distal hereditary motor neuropathy" "Autosomal dominant form of distal hereditary motor neuropathy." "" + "spinal muscular atrophy, facioscapulohumeral type" "" + "adult-onset proximal spinal muscular atrophy, autosomal dominant" "" + "autosomal dominant proximal spinal muscular atrophy" "Autosomal dominant form of proximal spinal muscular atrophy." "" + "spinal intradural arachnoid cysts" "Spinal intradural arachnoid cysts are cerebrospinal fluid -filled sacs that are located between the spinal cord and the arachnoid membrane (one of the three membranes that cover the brain and spinal cord). The signs and symptoms of the condition vary based on the size and location of the cysts. Some affected people may have no suspicious symptoms while others experience progressive back and leg pain; tingling or numbness in the hands or feet; weakness of the legs; and involuntary muscle spasms (spasticity) that result in slow, stiff movements of the legs. When present, symptoms usually occur when the cysts compress the spinal cord or other nearby nerves. Spinal intradural arachnoid cysts are often present at birth and arecaused by developmental abnormalities in the spinal cord that occur during the pregnancy. They can also result from a previous infection or injury and develop later in life. Although there is disagreement in the medical community regarding when to treat spinal intradural arachnoid cysts, the need for treatment generally depends on the size and location of the cyst and whether or not it is causing symptoms. When indicated, the cysts are typically treated with surgery." "" + "arachnoid cyst" "Intracranial or spinal cavities containing a cerebrospinal-like fluid, the wall of which is composed of arachnoidal cells. They are most often developmental or related to trauma. Intracranial arachnoid cysts usually occur adjacent to arachnoidal cistern and may present with hydrocephalus; headache; seizures; and focal neurologic signs. (From Joynt, Clinical Neurology, 1994, Ch44, pp105-115)" "" + "spinal muscular atrophy, segmental" "" + "spinocerebellar ataxia with rigidity and peripheral neuropathy" "" + "spinocerebellar ataxia type 6" "Spinocerebellar ataxia type 6 (SCA6) is the most common subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by late-onset and slowly progressive gait ataxia and other cerebellar signs such as impaired muscle coordination and nystagmus." "" + "spinocerebellar ataxia type 2" "Spinocerebellar ataxia type 2 (SCA2) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I) characterized by truncal ataxia, dysarthria, slowed saccades and less commonly ophthalmoparesis and chorea." "" + "spinocerebellar atrophy with pupillary paralysis" "" + "splenogonadal fusion-limb defects-micrognathia syndrome" "Splenogonadal fusion-limb defects-micrognatia syndrome is a rare dysostosis syndrome characterized by abnormal fusion of the spleen with the gonad (or more rarely with remnants of the mesonephros), limb abnormalities (consisting of amelia or severe reduction defects leading to upper and/or lower rudimentary limbs) and orofacial abnormalities such as cleft palate, bifid uvula, microglossia and mandibular hypoplasia. It could also be associated with other malformations such as cryptorchidism, anal stenosis/atresia, hypoplastic lungs and cardiac malformations." "" + "splenomegaly syndrome with splenic Germinal center hypoplasia and reduced circulating T helper cells" "" + "split lower lip" "" + "split-hand and split-foot with hypodontia" "" + "split hand-foot malformation 1" "Split-hand/foot malformation mapped to chromosome 7q21.3" "" + "split hand-foot malformation" "Split hand-split foot malformation (SHFM) refers to a spectrum of genetically and clinically heterogenous terminal limb defect characterized by hypoplasia/ absence of central rays of the hands and feet (that can occur in one to all four digits), median clefts of the hands and/ or feet, aplasia and syndactyly, with a wide range of severity ranging from malformed central finger/ toe to a lobster claw-like appearance of the hands and feet. SHFM can be an isolated malformation or can be a feature in various syndromes (ADULT syndrome, EEC syndrome). SHFM usually follows an autosomal dominant pattern of inheritance with incomplete penetrance, but autosomal recessive and rarely X-linked inheritance have also been reported." "" + "Patterson-Stevenson-Fontaine syndrome" "Patterson-Stevenson-Fontaine syndrome is a very rare variant of acrofacial dysostosis characterized by mandibulofacial dysostosis and limb anomalies." "" + "Karsch-Neugebauer syndrome" "Karsch-Neugebauer syndrome is a rare syndrome characterized by split-hand and split-foot deformity and ocular abnormalities, mainly a congenital nystagmus." "" + "Czeizel-Losonci syndrome" "Czeizel-Losonci syndrome (CLS) is an exceedingly rare, severe, congenital genetic malformation disorder characterized by split hand/split foot, hydronephrosis, and spina bifida. Spinal and skeletal manifestations were thoracolumbar scoliosis, spinabifida (spina bifida occulta or spina bifida cystic), Bochdalek diaphragmatic hernia, and radial defects.There have been no further descriptions in the literature since 1987." "" + "spondyloarthropathy, susceptibility to, 2" "" + "spondyloepimetaphyseal dysplasia-hypotrichosis syndrome" "Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome is a rare primary bone dysplasia disorder characterized by congenital hypotrichosis associated with rhizomelic short stature (more pronounced in upper limbs than lower limbs), limited hip abduction and mild genu varum. Flared and irregular metaphyses, delayed and irregular epiphiseal ossification and pear-shaped vertebral bodies are characteristic radiologic findings." "" + "spondyloepiphyseal dysplasia with punctate corneal dystrophy" "" + "spondyloepiphyseal dysplasia congenita" "Spondyloepiphyseal dysplasia congenita (SEDC) is a chondrodysplasia characterized by disproportionate short stature, abnormal epiphyses and flattened vertebral bodies." "" + "spondyloepiphyseal dysplasia, MacDermot type" "Spondyloepiphyseal dysplasia (SED), MacDermot type is characterized by short stature, femoral epiphyseal dysplasia, mild vertebral changes and sensorineural deafness." "" + "spondyloepimetaphyseal dysplasia, Maroteaux type" "A very rare type of spondyloepiphyseal dysplasia described in fewer than 10 patients to date and characterized clinically by dysplastic epiphyses, short stature appearing in infancy, short neck, short and stubby hands and feet, scoliosis, genu valgum, abnormal pelvis, osteoporosis and osteoarthritis." "" + "spondyloepiphyseal dysplasia tarda, autosomal dominant" "Autosomal domiant spondyloepiphyseal dysplasia tarda (autosomal dominant SEDT) is an inherited condition that affects bone growth. Signs and symptoms are generally physically apparent by puberty; however, abnormalities may be seen on X-ray at an earlier age. Affected people may have skeletal abnormalities, short stature (with a short neck and trunk, specifically), scoliosis, kyphosis, lumbar hyperlordosis (exaggerated curvature of the lower back), and early-onset progressive osteoarthritis of the hips and knees. Some cases of autosomal dominant SEDT may be caused by changes (mutations) in the COL2A1 gene. As the name suggests, the condition is inherited in an autosomal dominant manner. Treatment is based on the signs and symptoms present in each person and may include surgery and pain management strategies." "" + "spondyloepiphyseal dysplasia tarda" "Spondyloepiphyseal dysplasia tarda (SEDT) is characterized by disproportionate short stature in adolescence or adulthood, associated with a short trunk and arms and barrel-shaped chest." "" + "spondylolisthesis" "A condition in which there is forward displacement of a vertebral bone over the on below it." "" + "spondyloepimetaphyseal dysplasia, Strudwick type" "Spondyloepimetaphyseal dysplasia congenita, Strudwick type is characterized by disproportionate short stature from birth (with a very short trunk and shortened limbs) and skeletal abnormalities (lordosis, scoliosis, flattened vertebrae, pectus carinatum, coxa vara, clubfoot, and abnormal epiphyses or metaphyses)." "" + "spondylometaphyseal dysplasia, Kozlowski type" "Spondylometaphyseal dysplasia, Kozlowski type is characterized by short stature (short-trunk dwarfism), scoliosis, metaphyseal abnormalities in the femur (prominent in the femoral neck and trochanteric area), coxa vara and generalized platyspondyly." "" + "spondylometaphyseal dysplasia, Schmidt type" "Spondylometaphyseal dysplasia, Schmidt type is characterized by short stature, myopia, small pelvis, progressive kypho-scoliosis, wrist deformity, severe genu valgum, short long bones, and severe metaphyseal dysplasia with moderate spinal changes and minimal changes in the hands and feet." "" + "spondylometaphyseal dysplasia, 'corner fracture' type" "A type of skeletal dysplasia associated with short stature, developmental coxa vara, progressive hip deformity, simulated 'corner fractures' of long tubular bones and vertebral body abnormalities (mostly oval vertebral bodies)." "" + "obsolete odontochondrodysplasia" "" "true" + "spondylosis, cervical" "" + "Sprengel deformity" "" + "stuttering, familial persistent, 1" "" + "stapes ankylosis with broad thumbs and toes" "Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia." "" + "sebocystomatosis" "Sebocystomatosis is characterized by multiple (100 to 2000) asymptomatic dermal cysts that usually occur on the sternal region, upper back, axillae and proximal parts of the extremities." "" + "genetic sebaceous gland anomaly" "An instance of sebaceous gland anomaly that is caused by a modification of the individual's genome." "" + "steatocystoma multiplex-natal teeth syndrome" "The syndrome steatocystoma multiplex and natal teeth is characterized by generalized multiple steatocystomas and natal teeth." "" + "polycystic ovary syndrome" "A disorder that manifests as multiple cysts on the ovaries. It results in hormonal imbalances and leads to irregular and abnormal menstrual periods, excess growth of hair, acne eruptions and obesity." "" + "holoprosencephaly-radial heart renal anomalies syndrome" "Holoprosencephaly-radial heart renal anomalies syndrome is characterised by holoprosencephaly, predominantly radial limb deficiency (absent thumbs, phocomelia), heart defects, kidney malformations and absence of gallbladder." "" + "sternum, premature obliteration of sutures of" "" + "otospondylomegaepiphyseal dysplasia, autosomal dominant" "A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by craniofacial dysmorphism (midface hypoplasia, depressed nasal bridge, small nose with upturned tip, cleft palate, Pierre Robin sequence), bilateral, pronounced sensorineural hearing loss, and skeletal/joint anomalies (including spondyloepiphyseal dysplasia, arthralgia/arthropathy), in the absence of ocular abnormalities." "" + "otospondylomegaepiphyseal dysplasia" "An inborn error of cartilage collagen formation characterized by sensorineural hearing loss, enlarged epiphyses, skeletal dysplasia with disproportionately short limbs, vertebral body anomalies and a characteristic facies." "" + "stiff-person syndrome" "Stiff-man syndrome (SMS) is a rare neurological disorder comprising fluctuating trunk and limb stiffness, painful muscle spasms, task-specific phobia, an exaggerated startle response, and ankylosing deformities such as fixed lumbar hyperlordosis." "" + "stiff skin syndrome" "A rare syndrome characterized by hard, thick skin, usually on the entire body. The thickening of the skin can limit joint mobility and causes joints to be stuck in a bent position (flexion contractures). The onset of signs and symptoms can range from presenting at birth through childhood. Other signs and symptoms may include excessive hair growth (hypertrichosis), loss of body fat (lipodystrophy), scoliosis, muscle weakness, slow growth, and short stature. Weakness or paralysis of the eye muscles have also been reported. Stiff skin syndrome is caused by mutations (changes) in the FBN1 gene and is inherited in an autosomal dominant manner. Diagnosis is based on a clinical evaluation that is consistent with stiff skin syndrome, and the diagnosis can be confirmed with genetic testing. Treatment is based on the symptoms of each individual and may include physical therapy." "" + "overhydrated hereditary stomatocytosis" "Overhydrated hereditary stomatocytosis (OHSt) is a disorder of red cell membrane permeability to monovalent cations and is characterized clinically by hemolytic anemia." "" + "cryohydrocytosis" "A rare, hereditary, hemolytic anemia due to a red cell membrane anomaly characterized by fatigue, mild anemia and pseudohyperkalemia due to a potassium leak from the red blood cells. A hallmark of this condition is that red blood cells lyse on storage at 4 degrees centigrade." "" + "platelet storage pool deficiency" "Platelet storage pool deficiency refers to a group of conditions that are caused by problems with the platelet granules. Platelet granules are tiny storage sacs found within the platelets which release various substances to help stop bleeding. Platelet storage pool deficiencies occur when platelet granules are absent, reduced in number, or unable to empty their contents into the bloodstream. The signs and symptoms include frequent nosebleeds; abnormally heavy or prolonged menstruation ; easy bruising; recurrent anemia ; and abnormal bleeding after surgery, dental work or childbirth. Platelet storage pool deficiencies may be genetic or acquired (non-genetic). They can also be part of an inherited genetic syndrome such as Hermansky-Pudlak syndrome, Chediak-Higashi syndrome, thrombocytopenia-absent radius (TAR) syndrome, and Wiskott-Aldrich syndrome. Treatment is symptomatic." "" + "storm syndrome" "" + "Stormorken syndrome" "Stormorken-Sjaastad-Langslet syndrome is characterized by thrombocytopathy, asplenia, miosis, muscle fatigue, migraine, dyslexia, and ichthyosis. It has been described in six members of one family. It is transmitted as an autosomal dominant trait." "" + "strabismus, susceptibility to" "" + "short stature-wormian bones-dextrocardia syndrome" "Short stature-wormian bones-dextrocardia syndrome is a multiple congenital anomalies syndrome characterized by wormian bones, dextrocardia and short stature due to a growth hormone deficiency. Additional manifestations that have been reported include brachycamptodactyly, kidney hypoplasia, bilateral cryptorchidism, midshaft hypospadias, imperforate anus/anorectal agenesis, body asymetry, mild developmental delay, hemimegalencephaly and facial dysmorphism, such as hypotelorism, downslanting palpebral fissures, low-set and posteriorly angulated ears, depressed nasal bridge, and microstomia." "" + "striae distensae, familial" "" + "Sturge-Weber syndrome" "Sturge-Weber syndrome (SWS) is a rare congenital neurocutaneous disorder characterized by facial capillary malformations and/or cerebral and ocular ipsilateral vascular malformations that result in variable degrees of ocular and neurological anomalies." "" + "palpebral tumor with a vascular malformation" "True" + "neurocutaneous syndrome with epilepsy" "True" + "obsolete obsolete rare capillary malformation with associated anomalies" "" "true" + "sulfhemoglobinemia, congenital" "" + "Worster-Drought syndrome" "Worster-Drought syndrome (WDS) is a form of cerebral palsy characterized by congenital pseudobulbar (suprabulbar) paresis manifesting as selective weakness of the lips, tongue and soft palate, dysphagia, dysphonia, drooling and jaw jerking." "" + "progressive bulbar palsy" "Progressive bulbar palsy involves the brain stem. The brain stem is the part of the brain needed for swallowing, speaking, chewing, and other functions. Signs and symptoms of progressive bulbar palsy include difficulty swallowing, weak jaw and facial muscles, progressive loss of speech, and weakening of the tongue. Additional symptoms include less prominent weakness in the arms and legs, and outbursts of laughing or crying (called emotional lability). Progressive bulbar palsy is considered a variant form of amyotrophic lateral sclerosis (ALS). Many people with progressive bulbar palsy later develop ALS. While there is no cure for progressive bulbar palsy or for ALS, doctors can treat symptoms." "" + "supravalvular aortic stenosis" "SupraValvar Aortic Stenosis (SVAS) is characterized by the narrowing of the aorta lumen (close to its origin) or other arteries (branch pulmonary arteries, coronary arteries). This narrowing of the aorta or pulmonary branches may impede blood flow, resulting in heart murmur and ventricular hypertrophy (in case of aorta involvement). The narrowing results from a thickening of the artery wall, which is not related to atherosclerosis." "" + "surface antigen, glycoprotein 75" "" + "symphalangism of toes" "" + "surface polypeptides, anonymous" "" + "symphalangism, C. S. Lewis type" "" + "distal symphalangism" "Distal symphalangism is a very rare bone disorder characterized by ankylosis of the distal interphalangeal joints of the hands and/or feet." "" + "symphalangism with multiple anomalies of hands and feet" "Symphalangism with multiple anomalies of hands and feet is an exceedingly rare syndrome described in one family and characterized by proximal symphalangism and multiple hand and feet disorders (syndactyly, clinodactyly, hypoplasia of the thenar and hypothenar eminences, and a distinctive dermatoglyphic pattern). There have been no further descriptions in the literature since 1981." "" + "proximal symphalangism" "Proximal symphalangism is a very rare, genetic bone disorder characterized by ankylosis of the proximal interphalangeal joints, carpal and tarsal bone fusion, and conductive hearing loss in some patients." "" + "syndactyly type 1" "Syndactyly type 1 (SD1), also named zygodactyly in the past, is a distal limb malformation characterized by complete or partial webbing between the 3th and 4th fingers and/or the 2nd and 3rd toes." "" + "partial duplication of the long arm of chromosome 2" "Chromosome 2q duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the long arm (q) of chromosome 2. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 2q duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Most cases are not inherited, but people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person." "" + "synpolydactyly type 1" "Any non-syndromic synpolydactyly in which the cause of the disease is a mutation in the HOXD13 gene." "" + "syndactyly type 2" "Syndactyly type 2 or synpolydactyly (SPD) is a rare congenital distal limb malformation characterized by the combination of syndactyly and polydactyly." "True" + "syndactyly type 3" "Syndactyly type 3 (SD3) is a rare congenital distal limb malformation characterized by complete and bilateral syndactyly between the 4th and 5th fingers." "" + "syndactyly type 4" "Syndactyly type 4 (SD4) is a very rare congenital distal limb malformation characterized by complete bilateral syndactyly (involving all digits 1 to 5)." "" + "syndactyly type 5" "Syndactyly type 5 (SD5) is a very rare congenital limb malformation characterized by postaxial syndactyly of hands and feet, associated with metacarpal and metatarsal fusion of fourth and fifth digits." "" + "syndactyly-polydactyly-ear lobe syndrome" "" + "calcaneonavicular coalition" "A synostosis characterized by the fusion of carpal and tarsal bones, which causes stiffness and immobility of the hands and the feet." "" + "tarsal-carpal coalition syndrome" "Tarsal-carpal coalition syndrome is characterised by fusion of the carpals, tarsals, and phalanges." "" + "multiple synostoses syndrome 1" "Any multiple synostoses syndrome in which the cause of the disease is a mutation in the NOG gene." "" + "multiple synostoses syndrome" "Multiple synostoses syndrome (MSS) is a rare developmental bone disorder characterized by proximal symphalangism of the fingers and/or toes often associated with fusion of carpal and tarsal, humeroradial, and cervical spine joints." "" + "brachydactyly-elbow wrist dysplasia syndrome" "Brachydactyly-elbow wrist dysplasia syndrome is a rare, genetic bone development disorder characterized by dysplasia of all the bony components of the elbow joint, abnormally shaped carpal bones, wrist joint radial deviation and brachydactyly. Patients typically present with slight flexion at the elbow joints (with impossibilty to perform active extension) and usually associate a limited range of motion of the elbow, wrist and finger articulations. Camptodactyly and syndactyly have also been reported." "" + "synovial chondromatosis, familial, with dwarfism" "" + "Blau syndrome" "Blau syndrome (BS) is a rare systemic inflammatory disease characterized by early onset granulomatous arthritis, uveitis and skin rash. BS now refers to both the familial and sporadic (formerly early-onset sarcoidosis) form of the same disease. The proposed term pediatric granulomatous arthritis is currently questioned since it fails to represent the systemic nature of the disease." "" + "obsolete other genetic dermis disorder" "True" "true" + "obsolete other dermis disorder" "" "true" + "syringomas, multiple" "" + "syringomyelia, isolated" "" + "primary syringomyelia" "" + "talonavicular coalition" "" + "tarsal coalition" "" + "tear protein, anodal" "" + "T-cell Subgroups, non-HLA-linked" "" + "teeth, odd shapes of" "" + "obsolete T-complex locus TCP10B" "" "true" + "teeth present at birth" "" + "teeth, supernumerary" "An extra tooth, erupted or unerupted, resembling or unlike the other teeth in the group to which it belongs. Its presence may cause malposition of adjacent teeth or prevent their eruption." "" + "generalized essential telangiectasia" "" + "telangiectasia, hereditary hemorrhagic, type 1" "" + "hereditary hemorrhagic telangiectasia" "Rendu-Osler-Weber disease, also called hereditary hemorrhagic telangiectasia (HHT), is a disorder of angiogenesis leading to arteriovenous dilatations: cutaneo-mucosal hemorrhagic telangiectasias and visceral shunting." "" + "temperature-sensitive lethal mutation" "" + "canthal anomaly" "" + "obsolete distal arthrogryposis type 10" "" "true" + "extensor tendons of finger anomalies" "" + "spermatic cord torsion" "An emergency condition caused by the twisting of the spermatic cord which contains the vessels that provide the blood supply to the testis and surrounding structures. It manifests with acute testicular pain. If immediate medical assistance is not provided, it will lead to necrosis and loss of the testicular tissue." "" + "tetralogy of fallot" "Tetralogy of Fallot is a congenital cardiac malformation that consists of an interventricular communication, also known as a ventricular septal defect, obstruction of the right ventricular outflow tract, override of the ventricular septum by the aortic root, and right ventricular hypertrophy." "" + "tetralogy of fallot and glaucoma" "" + "tetramelic monodactyly" "Tetramelic monodactyly is a rare, genetic, congenital limb malformation disorder characterized by the presence of a single digit on all four extremities. Malformation is typically isolated however, aplastic and hypoplastic defects in the remaining skeletal parts of hands and feet have been reported. There have been no further descriptions in the literature since 1992." "" + "thalassemia, beta+, silent allele" "" + "beta thalassemia" "Beta-thalassemia (BT) is characterized by deficiency (Beta+) or absence (Beta0) of synthesis of the beta globin chains of hemoglobin (Hb)." "" + "thanatophoric dysplasia type 1" "Thanatophoric dysplasia type 1 (TD1) is a form of TD characterized by short, bowed femurs, micromelia, narrow thorax, and brachydactyly." "" + "thanatophoric dysplasia" "Thanatophoric dysplasia (TD) is a severe and generally lethal skeletal dysplasia presenting in the prenatal period and characterized by micromelia, macrocephaly, narrow thorax, and distinctive facial features. It includes TD, type 1 (TD1) and TD, type 2 (TD2), that can be differentiated from each other by femur and skull shape." "" + "severe achondroplasia-developmental delay-acanthosis nigricans syndrome" "Severe achondroplasia-developmental delay-acanthosis nigricans syndrome is characterised by the association of severe achondroplasia with developmental delay and acanthosis nigricans. It has been described in four unrelated individuals. Structural central nervous system anomalies, seizures and hearing loss were also reported, together with bowing of the clavicle, femur, tibia and fibula in some cases. The syndrome is caused by a Lys650Met substitution in the kinase domain of fibroblast growth factor receptor 3 (encoded by the FGFR3 gene; 4p16.3)." "" + "theophylline Biotransformation" "True" + "thoracic dysostosis, isolated" "" + "obsolete thoracolaryngopelvic dysplasia" "" "true" + "thoracolaryngopelvic dysplasia" "A short-rib dysplasia characterized by thoracic dystrophy, laryngeal stenosis and a small pelvis." "" + "short rib dysplasia" "" + "platelet-type bleeding disorder 16" "An inherited blood coagulation disease characterized by autosomal dominant inheritance with macrothrombocytopenia, platelet anisocytosis, prolonged bleeding time but only mildly increased bleeding tendency that has material basis in heterozygous mutation in the ITGA2B gene on chromosome 17q21.31 or the ITGB3 gene on chromosome 17q21.32." "" + "platelet-type bleeding disorder 17" "An autosomal dominant condition caused by mutation(s) in the GFI1B gene, encoding zinc finger protein Gfi-1b. It is characterized by a tendency for increased bleeding due to abnormal platelet function." "" + "thrombocythemia 1" "" + "familial thrombocytosis" "Familial thrombocytosis is a type of thrombocytosis, a sustained elevation of platelet numbers, which affects the platelet/megakaryocyte lineage and may create a tendency for thrombosis and hemorrhage but does not cause myeloproliferation." "" + "thrombocytopenia 2" "An autosomal dominant disorder caused by mutation(s) in the ANKRD26 gene, encoding ANKRD26 protein. Additionally, in one family, a mutation(s) has been identified in the MASTL gene, encoding serine/threonine-protein kinase greatwall. The condition is characterized by mild to moderate bruisability." "" + "inherited thrombocytopenia" "An instance of thrombocytopenia that is inherited." "" + "autosomal thrombocytopenia with normal platelets" "" + "thrombocytopenia, cyclic" "" + "Paris-Trousseau thrombocytopenia" "Paris-Trousseau thrombocytopenia (TCPT) is a contiguous gene syndrome characterized by mild bleeding tendency, variable thrombocytopenia (THC), dysmorphic facies, abnormal giant alpha-granules in platelets and dysmegakaryopoiesis." "" + "autoimmune thrombocytopenic purpura" "An autoimmune disorder in which the number of circulating platelets is reduced due to their antibody-mediated destruction. ITP is a diagnosis of exclusion and is heterogeneous in origin." "" + "autoimmune thrombocytopenia" "An autoimmune form of thrombocytopenia." "" + "thrombocytopenic purpura" "Purpura associated with a reduction in circulating blood platelets which can result from a variety of factors." "" + "thrombophilia due to thrombin defect" "The formation of a blood clot (thrombus) in the lumen of a vein." "" + "thrombophilia due to activated protein C resistance" "A hemostatic disorder characterized by a poor anticoagulant response to activated protein C (APC). The activated form of Factor V (Factor Va) is more slowly degraded by activated protein C. Factor V Leiden mutation (R506Q) is the most common cause of APC resistance." "" + "thumb deformity" "" + "thumb deformity-alopecia-pigmentation anomaly syndrome" "Thumb deformity-alopecia-pigmentation anomaly syndrome is a rare, genetic, congenital limb malformation syndrome characterized by short stature, sparse scalp hair, hypoplastic, proximally-placed thumbs, and skin hyperpigmentation with areas of 'raindrop' depigmentation. Presence of a single, upper central incisor has also been reported. There have been no further descriptions in the literature since 1988." "" + "thumb stiffness-brachydactyly-intellectual disability syndrome" "Thumb stiffness-brachydactyly-intellectual disability syndrome is characterized by intellectual deficit, mild dysmorphism, type A brachydactylia, signs of obesity and ankylosis of both thumbs. It has been reported in several females from one family (a girl and her mother, her grandmother and probably also her sister and her great-aunt), as well as in an isolated case." "" + "DiGeorge syndrome" "A congenital anomaly characterized by immunodeficiency, abnormal facies, congenital heart disease, hypocalcemia, and increased susceptibility to infections. Pathologic characteristics include conotruncal abnormalities and absence or hypoplasia of thymus and parathyroid glands. DiGeorge syndrome is associated with abnormalities of chromosome 22. Also known as DiGeorge anomaly." "" + "familial thyroglossal duct cyst" "Familial thyroglossal duct cyst (TDC) is a very rare inherited form of TDC characterized by a mass measuring 3 cm in diameter or less in the midline area of the neck." "" + "congenital thyroid malformation without hypothyroidism" "True" + "thyroid cancer, nonmedullary, 2" "" + "familial papillary or follicular thyroid carcinoma" "A papillary or follicular thyroid gland carcinoma with a genetic component that develops within the same family. Current studies suggest that it is inherited in an autosomal dominant pattern. It is often multifocal and bilateral and usually affects younger patients." "" + "thyroid cancer, nonmedullary, 1" "" + "familial nonmedullary thyroid carcinoma" "Familial nonmedullary thyroid carcinoma (fNMTC) is a rare non-syndromic form of thyroid cancer characterized by occurrence of thyroid carcinoma (TC) as the primary feature in a familial setting." "" + "thyroid hormone plasma membrane transport defect" "" + "thyroid hormone resistance, generalized, autosomal dominant" "" + "generalized resistance to thyroid hormone" "A thyroid hormone resistance syndrome characterized by resistance in the pituitary gland and in most or all of the peripheral tissues." "" + "thyrotoxic periodic paralysis, susceptibility to, 1" "Any thyrotoxic periodic paralysis in which the cause of the disease is a mutation in the CACNA1S gene." "" + "thyrotoxic periodic paralysis" "Thyrotoxic periodic paralysis (TPP) is a rare neurological disease characterized by recurrent episodes of paralysis and hypokalemia during a thyrotoxic state." "" + "Blount disease, infantile" "" + "Blount disease" "Blount disease is characterized by disturbed growth of the inner portion of the upper tibial extremity, progressively leading to bowlegged deformity with bone angulation just below the knee (tibia varus). In 60% of cases, the condition affects both legs." "" + "tibia, hypoplasia or aplasia of, with polydactyly" "" + "tibial torsion, bilateral medial" "" + "obsolete Tl antigen" "" "true" + "nicotine dependence" "Physical and psychological dependence on nicotine." "" + "toe, fifth, number of phalanges 1N" "" + "toe, misshapen" "" + "toe, rotated fifth" "" + "toes, relative length of first and second" "" + "toes, space between first and second" "" + "malposition of teeth with or without hypodontia/oligodontia" "" + "tooth and nail syndrome" "Hypodontia-nail dysplasia syndrome is a form of ectodermal dysplasia." "" + "inherited torticollis" "A congenital benign lesion that occurs in the distal sternocleidomastoid muscle of infants. It is characterized by the presence of plump spindle cells, and collagenous stroma formation." "" + "torus palatinus and torus mandibularis" "" + "HELLP syndrome" "A life-threatening condition that can potentially complicate pregnancy. It is named for 3 features of the condition: H emolysis, E levated L iver enzyme levels, and L ow P latelet levels. It typically occurs in the last 3 months of pregnancy (the third trimester) but can also start soon after delivery. A wide range of non-specific symptoms may be present in women with HELLP syndrome. Symptoms may include fatigue; malaise; fluid retention and excess weight gain; headache; nausea and vomiting; pain in the upper right or middle of the abdomen; blurry vision; and rarely, nosebleed or seizures. The cause of HELLP syndrome is not known, but certain risk factors have been associated with the condition. It is most common in women with preeclampsia or eclampsia. If not diagnosed and treated quickly, HELLP syndrome can lead to serious complications for the mother and baby.The main treatment is to deliver the baby as soon as possible, even if premature. Treatment may also include medications needed for the mother or baby, and blood transfusion for severe bleeding problems." "" + "esophageal atresia/tracheoesophageal fistula" "Oesophageal atresia (OA) encompasses a group of congenital anomalies with an interruption in the continuity of the oesophagus, with or without persistent communication with the trachea." "" + "non-syndromic esophageal malformation" "A esophageal malformation that is not part of a larger syndrome." "" + "tracheobronchopathia osteochondroplastica" "Tracheobronchopathia osteochondroplastica (TO) is an idiopathic and benign disease of the large airways characterized by submucosal osteocartilaginous nodules presenting in the trachea with or without the involvement of the major bronchi." "" + "hereditary geniospasm" "Hereditary geniospasm is a movement disorder characterized by episodes of involuntary tremor of the chin and lower lip." "" + "tremor of intention, ataxia, and lipofuscinosis" "" + "tremor, hereditary essential, 1" "Any essential tremor in which the cause of the disease is a mutation in the DRD3 gene." "" + "tremor-nystagmus-duodenal ulcer syndrome" "" + "tricho-dento-osseous syndrome" "Tricho-dento-osseous dysplasia (TDO) belongs to the ectodermal dysplasias and is characterised by curly/kinky hair at birth, enamel hypoplasia with discolouration and molar taurodontism, increased overall bone mineral density (BMD) and increased thickness of the cortical bones of the skull." "" + "syndromic hair shaft abnormality" "" + "trichomegaly" "" + "familial multiple discoid fibromas" "A rare, genetic, skin tumor disorder characterized by childhood-onset of multiple, benign, asymptomatic, white to flesh-colored papules predominently located on the face, ears, neck and trunk, not associated with systemic organ involvement, associated malignancies or FLCN gene locus mutation." "" + "trichoepitheliomas, multiple desmoplastic" "" + "trichorhinophalangeal syndrome type I" "An autosomal dominant malformation syndrome caused by mutations in TRPS1 characterized by distinctive craniofacial and skeletal abnormalities. TRPS I patients have sparse scalp hair, bulbous tip of the nose, long flat philtrum, thin upper vermilion border, and protruding ears. Skeletal abnormalities include cone-shaped epiphyses at the phalanges, hip malformations, and short stature." "" + "trichorhinophalangeal syndrome, type III" "A trichorhinophalangeal syndrome caused by mutations in TRPS1 characterized by the presence of severe brachydactyly, due to short metacarpals, and severe short stature." "" + "trichodysplasia-xeroderma syndrome" "Trichodysplasia-xeroderma syndrome is an extremely rare, syndromic hair shaft anomaly characterized by sparse, coarse, brittle, excessively dry and slow-growing scalp hair, sparse axillary and pubic hair, sparse or absent eyelashes and eyebrows and dry skin. Hair shaft analysis shows pili torti, longitudinal splitting, grooves, peeling and scaling. There have been no further descriptions in the literature since 1987." "" + "trigeminal neuralgia" "Trigeminal neuralgia is a nerve disorder that causes a stabbing or electric-shock-like pain in parts of the face. The pain lasts a few seconds to a few minutes, and usually on only one side of the face. It can also cause muscle spasms in the face the same time as the pain. The pain may result from a blood vessel pressing against the trigeminal nerve (the nerve that carries pain, feeling, and other sensations from the brain to the skin of theface), as a complication of multiple sclerosis, or due to compression of the nerve by a tumor or cyst. In some cases, the cause is unknown. Treatment options include medicines, surgery, and complementary approaches." "" + "trigger thumb" "A painful disability in the hand affecting the finger or thumb. It is caused by mechanical impingement of the digital flexor tendons as they pass through a narrowed retinacular pulley at the level of the metacarpal head. Thickening of the sheath and fibrocartilaginous metaplasia can occur, and nodules can form. (From Green's Operative Hand Surgery, 5th ed, p2137-58)." "" + "triglyceride storage disease, type 1" "" + "triglyceride storage disease, type 2" "" + "trigonocephaly 1" "Any isolated trigonocephaly in which the cause of the disease is a mutation in the FGFR1 gene." "" + "isolated trigonocephaly" "Isolated trigonocephaly is a nonsyndromic form of craniosynostosis characterized by the premature fusion of the metopic suture." "" + "triphalangeal thumb with double phalanges" "" + "triphalangeal thumb, Nonopposable" "" + "Say-field-Coldwell syndrome" "Say-Field-Coldwell syndrome is characterised by triphalangeal thumbs, brachydactyly, camptodactyly, recurrent dislocation of the patellas and relatively short stature. It has been described in a mother and her three daughters." "" + "triphalangeal thumbs-brachyectrodactyly syndrome" "Triphalangeal thumbs-brachyectrodactyly syndrome is characterised by triphalangeal thumbs and brachydactyly of the hands. It has been described in four families and in one isolated case. Ectrodactyly of the feet and, more rarely, ectrodactyly of the hands were also reported in some family members. Transmission is autosomal dominant." "" + "total autosomal trisomy" "" + "chromosome 21 disorder" "Chromosomal disorder in which chromosome 21 is affected." "" + "obsolete rare syndrome with cardiac malformations" "True" "true" + "obsolete chromosomal anomaly with epilepsy as a major feature" "True" "true" + "obsolete Moyamoya syndrome" "" "true" + "Tristichiasis" "" + "blue color blindness" "Tritanopia is an extremely rare form of colour blindness characterised by a selective deficiency of blue vision." "" + "humerus trochlea aplasia" "Humerus trochlea aplasia is an extremely rare familial bone deformity described only in Japanese patients to date. The deformity is bilateral in nearly half of patients (with bilateral involvement, the condition is symmetrical) and sometimes causes ulnar nerve palsy or cubitus varus." "" + "tuberous sclerosis 1" "Tuberous sclerosis mapped to chromosome 9q34 (TSC1 gene)." "" + "tuberous sclerosis complex" "A neurocutaneous disorder characterized by multisystem hamartomas and associated with neuropsychiatric features." "" + "Tuftsin deficiency" "" + "suppressor of tumorigenicity 3" "" + "tune deafness" "" + "twinning due to superfetation" "True" + "inflammatory bowel disease 11" "An inflammatory bowel disease that has material basis in variation in the chromosome region 7q22." "" + "mesomelic dwarfism, Reinhardt-Pfeiffer type" "Mesomelic dwarfism, Reinhardt-Pfeiffer type is characterized by disproportionate short stature from birth with dysplasia of the ulna and fibula." "" + "ulna metaphyseal dysplasia syndrome" "Ulna metaphyseal dysplasia syndrome is a rare primary bone dysplasia characterized by dysplasia of the distal ulnar metaphyses, as well as metacarpal/metatarsal dysplasia and metaphyseal changes resembling enchondromata. Patients usually present bony swelling of the wrists with or without pain (knees and ankles may also be affected). Other variably associated features include platyspondyly, skeletal development delay, short stature and coxa valga." "" + "upper limb mesomelic dysplasia" "This syndrome is an isolated upper limb mesomelic dysplasia. It has been described in four patients from two unrelated families (a man and his daughter, and a Lebanese man and his son). Patients present with ulnar hypoplasia with severe radial bowing, but normal stature. The mode of transmission is likely to be autosomal dominant with variable expressivity." "" + "uncombable hair syndrome" "Uncombable hair syndrome (UHS), or pili trianguli et canaliculi, is a rare scalp hair shaft dysplasia." "" + "tricho-retino-dento-digital syndrome" "Tricho-retino-dento-digital syndrome is an autosomal dominant ectodermal dysplasia syndrome, characterized by uncombable hair syndrome, congenital hypotrichosis and dental abnormalities such as oligodontia or hyperdontia, and associated with early-onset cataract, retinal pigmentary dystrophy, and brachydactyly with brachymetacarpia. Furthermore, hyperactivity and a mild intellectual deficit have been reported in affected patients." "" + "Undritz anomaly" "" + "Upington disease" "Upington disease is characterised by Perthes-like pelvic anomalies (premature closure of the capital femoral epiphyses and widened femoral necks with flattened femoral heads), enchondromata and ecchondromata. It has been described in siblings from three generations of one family. Transmission is autosomal dominant." "" + "urate-binding globulin, decrease 1N" "True" + "ureter, bifid or double" "" + "ureterocele" "A cystic and dysplastic dilation of the distal ureter within the bladder that may extend into the bladder neck and urethra." "" + "urolithiasis, uric acid, autosomal dominant" "" + "urinary bladder, atony of" "" + "obsolete renal agenesis" "" "true" + "urticaria, aquagenic" "Aquagenic urticaria is a rare condition in which urticaria (hives) develop rapidly after the skin comes in contact with water, regardless of its temperature. It most commonly affects women and symptoms often start around the onset of puberty. Some patients report itching too. It is a form of physical urticaria . The exact underlying cause of aquagenic urticaria is currently unknown. Due to the rarity of the condition, there is very limited data regarding the effectiveness of individual treatments; however, various medications and therapies have been used with variable success." "" + "Muckle-Wells syndrome" "Muckle-Wells syndrome (MWS) is an intermediate form of cryopyrin-associated periodic syndrome (CAPS) and is characterized by recurrent fever (with malaise and chills), recurrent urticaria-like skin rash, sensorineural deafness, general signs of inflammation (eye redness, headaches, arthralgia/myalgia) and potentially life-threatening secondary amyloidosis (AA type)." "" + "cryopyrin-associated periodic syndrome" "Cryopyrin associated periodic syndrome (CAPS) defines a group of autoinflammatory diseases, characterized by recurrent episodes of systemic inflammatory attacks in the absence of infection or autoimmune disease. CAPS comprises 3 disorders on a continuum of severity: severe CINCA syndrome, intermediate Muckle-Wells syndrome (MWS) and milder familial cold urticaria (FCAS)." "" + "urticaria, familial localized heat" "" + "uterine anomalies" "" + "double uterus-hemivagina-renal agenesis syndrome" "Double uterus, hemivagina and renal agenesis is a rare congenital urogenital anomaly characterized by the presence of double uterus (didelphys, bicornuate or septum-complete or partial), unilateral cervico-vaginal obstruction (obstructed hemivagina-communicant, not communicant or septate and unilateral cervical atresia) and ipsilateral renal anomalies (renal agenesis and/or other urinary tract anomalies). Patients are usually diagnosed at puberty after menarche due to recurrent severe dysmenorrhea, chronic pelvic pain, excessive foul smelling mucopurulent discharge, spotting and intermenstrual bleeding (depending on the existence of uterine or vaginal communications). fever, dyspareunia, and a palpable abdominal, pelvic or vaginal mass (mucocolpos or pyocolpos) may also be present." "" + "bifid uvula" "Bifid uvula is a fissure type embryopathy affecting the uvula at the back of the soft palate." "" + "vascular helix of umbilical cord" "" + "vasculitis, lymphocytic, nodular" "Lymphocytic vasculitis is one of several skin conditions which are collectively referred to as cutaneous vasculitis. In lymphocytic vasculitis, white blood cells (lymphocytes) cause damage to blood vessels in the skin. This condition is thought to be caused by a number of factors, but the exact cause of most cases is not known. This disease can present with a variety of symptoms, depending on the size, location, and severity of the affected area. In a minority of patients, cutaneous vasculitis can be part of a more severe vasculitis affecting other organs in the body - this is known as systemic vasculitis." "" + "retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations" "An inherited group of small vessel diseases comprised of cerebroretinal vasculopathy (CRV), hereditary vascular retinopathy (HRV) and hereditary endotheliopathy with retinopathy, nephropathy and stroke (HERNS); all exhibiting progressive visual impairment as well as variable cerebral dysfunction." "" + "disease of glomerular basement membrane" "" + "VACTERL/vater association" "VACTERL/VATER is an association of congenital malformations typically characterized by the presence of at least three of the following: vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities." "" + "multiple congenital anomalies/dysmorphic syndrome without intellectual disability" "" + "syndromic esophageal malformation" "A esophageal malformation that is part of a larger syndrome." "" + "veins, pattern of, on anterior thorax" "" + "velocardiofacial syndrome" "A chromosomal disease that has material basis in deletion polymorphisms at chromosome location 22q11 and is characterized by variable developmental problems and schizoid features." "" + "ventricular extrasystoles with syncopal episodes-perodactyly-robin sequence syndrome" "This syndrome is characterized by cardiac arrhythmias (ventricular extrasystoles manifesting as bigeminy or multifocal tachycardia with syncopal episodes), perodactyly (hypoplasia and/or agenesis of the distal phalanges of the toes) and Pierre-Robin sequence." "" + "obsolete long QT syndrome 1" "" "true" + "hypertrophic cardiomyopathy 1" "Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the MYH7 gene." "" + "ventricular tachycardia, familial" "An instance of ventricular tachycardia that is caused by an inherited modification of the individual's genome." "" + "venular insufficiency, systemic" "" + "posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome" "Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome is characterized by congenital ptosis and posterior fusion of the lumbosacral vertebrae. It has been described in a mother and her two daughters." "" + "vertebral hypoplasia with lumbar kyphosis" "" + "congenital vertical talus" "Isolated congenital vertical talus (CVT) is a rare pedal deformity recognizable at birth by a dislocation of the talonavicular joint, resulting in a characteristic radiographic near-vertical orientation of the talus." "" + "congenital deformities of limbs" "" + "vesicoureteral reflux 1" "" + "familial vesicoureteral reflux" "Familial vesicoureteral reflux is a rare, non-syndromic urogenital tract malformation characterized by the familial occurrence of retrograde flow of urine from the bladder into the ureter and sometimes the kidneys. Patients may be asymptomatic or may present with recurrent, sometimes febrile, urinary tract infections that, in case of acute pyelonephritis, may lead to serious complications (renal scarring, hypertension, renal failure). Spontaneous resolution of the disorder is possible." "" + "nystagmus 4, congenital, autosomal dominant" "" + "vestibulocochlear dysfunction, progressive" "" + "obsolete benign paroxysmal positional nystagmus" "" "true" + "obsolete vibratory angioedema" "" "true" + "virus Rd114 RNA Complementarity" "" + "transcobalamin I deficiency" "" + "inborn disorder of cobalamin metabolism and transport" "" + "autosomal dominant hypophosphatemic rickets" "Autosomal dominant hypophosphatemic rickets (ADHR) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia." "" + "vitiligo" "Generalized well circumscribed patches of leukoderma that are generally distributed over symmetric body locations and is due to autoimmune destruction of melanocytes." "" + "autosomal dominant vitreoretinochoroidopathy" "Autosomal dominant vitreoretinochoroidopathy (ADVIRC) is a genetic vitreous-retinal disease characterized by ocular developmental anomalies such as microcornea, a shallow anterior chamber, glaucoma and cataract. Abnormal chorioretinal pigmentation is present, usually lying between the vortex veins and the ora serrata for 360 degrees." "" + "snowflake vitreoretinal degeneration" "Snowflake vitreoretinal degeneration (SVD) is characterised by the presence of small granular-like deposits resembling snowflakes in the retina, fibrillary vitreous degeneration and cataract. The prevalence is unknown but the disorder has been described in several families. Transmission is autosomal dominant and the causative gene has been localised to a small region on chromosome 2q36." "" + "obsolete autosomal dominant neovascular inflammatory vitreoretinopathy" "" "true" + "ptosis-vocal cord paralysis syndrome" "Ptosis-vocal cord paralysis syndrome is a rare, hereditary disorder with ptosis characterized by the combination of congenital bilateral recurrent laryngeal nerve paralysis and congenital bilateral ptosis. There have been no further descriptions in the literature since 1983." "" + "volvulus of midgut" "A congenital abnormality in which the intestine is abnormally rotated (twisted). It may result in intestinal obstruction." "" + "multiple polyglandular tumor" "" + "von Willebrand disease 1" "Type 1 von Willebrand disease (type 1 VWD) is a form of VWD characterized by a bleeding disorder associated with a partial quantitative plasmatic deficiency of an otherwise structurally and functionally normal Willebrand factor (von Willebrand factor; VWF)." "" + "vulvovaginitis, allergic seminal" "" + "Waardenburg syndrome type 1" "Waardenburg syndrome type 1 (WS1) is a subtype of Waardenburg syndrome (WS), disorder characterized by congenital deafness, minor defects in structures arising from neural crest resulting in pigmentation anomalies of eyes, hair, and skin, in combination with dystopia canthorum." "" + "Waardenburg syndrome type 2A" "Waardenburg syndrome Type 2 caused by mutations in the MITF gene." "" + "Waardenburg syndrome type 2" "Waardenburg syndrome type 2 (WS2) is an autosomal dominant subtype of Waardenburg syndrome (WS), characterized by varying degrees of deafness and pigmentation anomalies of eyes, hair and skin, but without dystopia canthorum." "" + "Watson syndrome" "Watson syndrome is believed to be a variant of neurofibromatosis type 1. The symptoms of this condition are pulmonary valvular stenosis, cafe-au-lait spots and short stature. IQTest scores for individuals with Watson syndromecan rangebetween 60-100.Many people with this condition also have a larger than average head size (macrocephaly) and Lisch nodules. While mutations in the NF1 gene have been found in families with Watson syndrome, the exactcause of this condition is unknown. The conditionis inherited in an autosomal dominant pattern. Treatment aims at managing the specific symptoms of an individual." "" + "neurofibromatosis-Noonan syndrome" "Neurofibromatosis-Noonan syndrome (NFNS) is a RASopathy and a variant of neurofibromatosis type 1 (NF1) characterized by the combination of features of NF1, such as cafC)-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, optic nerve glioma and multiple neurofibromas; and Noonan syndrome (NS), such as short stature, typical facial features (hypertelorism, ptosis, downslanting palpebral fissures, low-set posteriorly rotated ears with a thickened helix, and a broad forehead), congenital heart defects and unusual pectus deformity. As these three entities have significant phenotypic overlap, molecular genetic testing is often necessary for a correct diagnosis (such as when cafC)-au-lait spots are present in patients diagnosed with NS)." "" + "acrofacial dysostosis, Weyers type" "Acrofacialdysostosis, Weyers type (WAD) is a rare ectodermal dysplasia syndrome with bone abnormalities characterized by onychodystrophy; anomalies of the lower jaw, oral vestibule and dentition; post-axialpolydactyly; moderately restricted growth with short limbs; and normal intelligence. Although it closely resembles Ellis-van Creveld syndrome, an allelic disorder and another type of ciliopathy, WAD is usually a milder disease without the presence of heart abnormalities and is inherited in an autosomal dominant manner." "" + "obsolete WHIM syndrome" "" "true" + "freeman-Sheldon syndrome" "Freeman-Sheldon syndrome (FSS) is a very rare, multiple congenital contractures syndrome characterized by a microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. FSS is the most severe form of distal arthrogryposis." "" + "white sponge nevus 1" "Any hereditary mucosal leukokeratosis in which the cause of the disease is a mutation in the KRT4 gene." "" + "hereditary mucosal leukokeratosis" "White sponge nevus (WSN) is a rare and autosomal dominant genetic disease in which the oral mucosa is white or greyish, thickened, folded, and spongy. The onset is early in life, and both sexes are affected equally. Other common sites include the tongue, floor of the mouth, and alveolar mucosa." "" + "widow's peak" "True" + "Williams syndrome" "Williams syndrome is a rare genetic multisystemic neurodevelopmental disorder characterized by a distinct facial appearance, cardiac anomalies (most frequently supravalvular aortic stenosis), cognitive and developmental abnormalities, and connective tissue abnormalities (such as joint laxity)" "" + "partial deletion of the long arm of chromosome 7" "Chromosome 7q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 7. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 7q deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person." "" + "motor stereotypies" "" + "neurodevelopmental disorder" "A behavioral and cognitive disorder with onset during the developmental period that involves impaired or aberrant development of intellectual, motor, or social functions." "" + "Wilms tumor 2" "" + "WAGR syndrome" "WAGR syndrome (Wilms tumor - aniridia - genitourinary anomalies - intellectual disability mental retardation) is a rare genetic disorder characterized by an unusual complex of congenital developmental abnormalities with intellectual disability, and an increased risk of developing Wilms tumor." "" + "partial deletion of the short arm of chromosome 11" "" + "Denys-Drash syndrome" "Denys-Drash syndrome (DDS) is a rare urogenital disorder characterized by the association of diffuse mesangial sclerosis (DMS), male pseudohermaphroditism with a 46,XY karyotype, and nephroblastoma." "" + "Wilms tumor 3" "" + "Wolf-Hirschhorn syndrome" "Wolf-Hirschhorn syndrome (WHS) is a developmental disorder characterized by typical craniofacial features, prenatal and postnatal growth impairment, intellectual disability, severe delayed psychomotor development, seizures, and hypotonia." "" + "chromosome 4 short arm deletion" "" + "Wolff-Parkinson-white syndrome" "A cardiac conduction disorder characterized by an electrocardiographic finding of ventricular pre-excitation, which is a short PR interval and a long QRS interval with a delta wave. Most individuals are asymptomatic; however they can experience periods of palpitations, shortness of breath or syncope during tachycardic episodes." "" + "isolated familial woolly hair disorder" "Woolly hair is a rare congenital abnormality of the structure of the scalp hair marked by extreme kinkiness of the hair." "" + "Woronets trait" "" + "WT limb-blood syndrome" "WT limb-blood syndrome is characterised by haematological anomalies (Fanconi anaemia, leukaemia and lymphoma) often appearing during childhood. Anomalies of the limbs and hands are also present: bifid or hypoplastic thumbs, cutaneous syndactyly, and ulnar and radial defects. The syndrome has been described in several families. Transmission is autosomal dominant." "" + "dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema" "" + "dehydrated hereditary stomatocytosis" "Dehydrated hereditary stomatocytosis (DHS) is a rare hemolytic anemia characterized by a decreased red cell osmotic fragility due to a defect in cation permeability, resulting in red cell dehydration and mild to moderate compensated hemolysis. Pseudohyperkalemia (loss of potassium ions from red cells on storage at room temperature) is sometimes observed." "" + "xeroderma pigmentosum, autosomal dominant, mild" "" + "xeroderma pigmentosum" "Xeroderma pigmentosum (XP) is a rare genodermatosis characterized by extreme sensitivity to ultraviolet (UV)-induced changes in the skin and eyes, and multiple skin cancers. It is subdivided into 8 complementation groups, according to the affected gene: classical XP (XPA to XPG) and XP variant (XPV)." "" + "zinc, elevated plasma" "" + "abetalipoproteinemia" "Abetalipoproteinemia/ homozygous familial hypobetalipoproteinemia (ABL/HoFHBL) is a severe form of familial hypobetalipoproteinemia characterized by permanently low levels (below the 5th percentile) of apolipoprotein B and LDL cholesterol, and by growth delay, malabsorption, hepatomegaly, and neurological and neuromuscular manifestations." "" + "intestinal disease due to fat malabsorption" "" + "hypobetalipoproteinemia" "A group of lipoprotein metabolism disorders that are characterized by permanently low levels (below the 5th percentile) of apolipoprotein B and LDL cholesterol." "" + "autosomal recessive metabolic cerebellar ataxia" "" + "constitutional hemolytic anemia due to acanthocytosis" "True" + "ablepharon macrostomia syndrome" "Ablepharon macrostomia syndrome is an extremely rare multiple congenital malformation syndrome characterized by the association of ablepharon, macrostomia, abnormal external ears, syndactyly of the hands and feet, skin findings (such as dry and coarse skin or redundant folds of skin), absent or sparse hair, genital malformations and developmental delay (in 2/3 of cases). Other reported manifestations include malar hypoplasia, absent or hypoplastic nipples, umbilical abnormalities and growth retardation. It is a mainly sporadic disorder, although a few familial cases having been reported, and it displays significant clinical overlap with Fraser syndrome." "" + "microblepharon-ablephara syndrome" "" + "pseudoprogeria syndrome" "Pseudoprogeria is characterised by intellectual deficit associated with progressive spastic quadriplegia, microcephaly, glaucoma, absence of the eyebrows and eyelashes, and a malformation of the nose. It has been described in two brothers." "" + "chorea-acanthocytosis" "Chorea-acanthocytosis (ChAc) is a form of neuroacanthocytosis and is characterized clinically by a Huntington disease-like phenotype with progressive neurological symptoms including movement disorders, psychiatric manifestations and cognitive disturbances." "" + "neuroacanthocytosis" "Neuroacanthocytosis (NA) syndromes are a group of genetic diseases characterized by the association of red blood cell acanthocytosis (deformed erythrocytes with spike-like protrusions) and progressive degeneration of the basal ganglia." "" + "acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome" "This syndrome is characterised by the association of acanthosis nigricans, insulin resistance, severe muscle cramps and acral hypertrophy." "" + "obsolete acetophenetidin sensitivity" "" "true" + "achalasia" "A finding indicating the lack of adequate relaxation of the lower esophageal sphincter resulting in difficulty swallowing food." "" + "idiopathic achalasia" "A primary esophageal motor disorder characterized by loss of esophageal peristalsis and insufficient lower esophageal sphincter (LES) relaxation in response to deglutition." "" + "achalasia microcephaly syndrome" "Achalasia-microcephaly is an extremely rare genetic syndrome, reported in a few families to date, characterized by the association of microcephaly, intellectual deficit and achalasia (with symptoms of coughing, dysphagia, vomiting, failure to thrive and aspiration appearing in infancy/early-childhood). Antenatal exposure to Mefloquine was reported in one simplex case. An autosomal recessive inheritance has been proposed." "" + "acheiropody" "Acheiropodia is an extremely rare developmental disorder characterized by bilateral, congenital and complete amputation of the distal extremities (amputation of distal epiphysis of the humerus, distal portion of the tibial diaphysis, aplasia of the radius, ulna, fibula) and aplasia of hands and feet (aplasia of carpal, metacarpal, tarsal, metatarsal and phalangeal bones). Rarely, an ectopic bone can be found at the distal end of the humerus. No other systemic manifestations have been reported and the disorder follows an autosomal recessive pattern of inheritance." "" + "non-syndromic terminal limb defects" "" + "achondrogenesis type IA" "Achondrogenesis type 1A (ACG1A), a form of achondrogenesis, is a very rare, lethal skeletal dysplasia characterized by dwarfism with extremely short limbs, narrow chest, short ribs that are easily fractured, soft skull bones and distinctive histological features of the cartilage." "" + "achondrogenesis" "Achondrogenesis describes a rare group of lethal skeletal dysplasias characterized by an endochondral ossification deficiency that leads to dwarfism with extreme micromelia, a small thorax, a prominent abdomen, anasarca and polyhydramnios. There are three types of achondrogenesis that exist and that differ clinically, radiologically, histologically and genetically: achondrogensis type 1a, type 1b and type 2." "" + "achondrogenesis type II" "Achondrogenesis type 2 (ACG2), a form of achondrogenesis, is a very rare and lethal skeletal dysplasia and part of the spectrum of type 2 collagen-related bone disorders, characterizedby severe micromelia, short neck with large head, small thorax, protuberant abdomen, underdeveloped lungs, distinctive facial features such as a prominent forehead, a small chin, a cleft palate (in some) and distinctive histological features of the cartilage." "" + "acromesomelic dysplasia, Grebe type" "Acromesomelic dysplasia, Grebe type is an autosomal recessively inherited form of acromesomelic dysplasia characterized by severe dwarfism at birth, abnormalities confined to limbs, severe shortening and deformity of long bones, fusion or absence of carpal and tarsal bones, ball shaped fingers and, occasionally, polydactyly and absent joints. As seen in acromesomelic dysplasia, Hunter-Thomson type and acromesomelic dysplasia, Maroteaux Type, facial features and intelligence are normal." "" + "short-limb skeletal dysplasia with severe combined immunodeficiency" "Short-limb skeletal dysplasia with severe combined immunodeficiency is an extremely rare type of SCID characterized by the classical signs of T-B- SCID (severe and recurrent infections, diarrhea, failure to thrive, absence of T and B lymphocytes), associated with skeletal anomalies like short stature, bowing of the long bones and metaphyseal abnormalities of variable degree of severity." "" + "lysosomal acid phosphatase deficiency" "" + "Ackerman syndrome" "Ackerman syndrome is characterized by pyramidal molar roots and taurodontism, associated with variable anomalies. It has been described in two generations of one family. Both parents and their six sibs had pyramidal, taurodont or fused molar roots. Some of the patients also had hypotrichosis, an abnormal upper lip, thickened and wide philtrum, and/or juvenile glaucoma. Other features included entropion of the eyelid, syndactyly and clinodactyly of the fifth fingers." "" + "acro-renal-mandibular syndrome" "Acro-renal-mandibular syndrome is a very rare multiple congenital anomalies syndrome characterized by limb deficiencies and renal anomalies that include split hand-split foot malformation, renal agenesis, polycystic kidneys, uterine anomalies and severe mandibular hypoplasia. An autosomal recessive mode of inheritance has been suggested." "" + "acrocallosal syndrome" "Acrocallosal syndrome (ACS) is a polymalformative syndrome characterized by agenesis of corpus callosum (CC), distal anomalies of limbs, minor craniofacial anomalies and intellectual deficit." "" + "acrocephalopolydactyly" "Acrocephalopolydactyly, also known as Elejalde syndrome, is an extremely rare lethal autosomal recessive disorder characterized by massive birth weight, swollen globular body, generalized edema, short limbs, postaxial polydactyly, thick skin, facial dysmorphism (slanted palpebral fissures, hypertelorism, epicanthic folds, dysplastic ears), excessive connective tissue, renal dysplasia, and in some patients, organomegaly, craniosynostosis with acrocephaly, omphalocele, cleft palate, and cryptorchidism. Fewer than 10 cases have been reported to date." "" + "RAB23-related Carpenter syndrome" "Any Carpenter syndrome in which the cause of the disease is a mutation in the RAB23 gene." "" + "Carpenter syndrome" "An extremely rare autosomal recessive syndrome characterized by premature closure of cranial sutures leading to cone-shaped head, fusion of the digits, and the presence of more digits than normal. It may be associated with heart defects, single horseshoe-shaped kidney, short stature, undescended testes, and mild mental retardation." "" + "Goodman syndrome" "Goodman syndrome is an extremely rare genetic disorder characterized by marked malformations of the head and face (essentially acrocephaly), abnormalities of the hands and feet (polydactyly, syndactyly, clinodactyly, camptodactyly, ulnar deviation), and congenital heart disease. There have been no further descriptions in the literature since 1979. Goodman syndrome could be a variant of Carpenter syndrome." "" + "acrocraniofacial dysostosis" "Acrocraniofacial dysostosis is a very rare form of acrofacial dyosotosis, reported in two sisters to date, characterized by short stature, acrocephaly, ocular hypertelorism, ptosis of eyelids, ocular proptosis, downslanting palpebral fissures, high nasal bridge, anteverted nostrils, short philtrum, cleft palate, micrognathia, abnormal external ears, preauricular pits, mixed hearing loss, bulbous digits, metatarsus varus, pectus excavatum and various radiological abnormalities. Features of this syndrome were reported to overlap with otopalatodigital syndrome types 1 and 2. There have been no further descriptions in the literature since 1988." "" + "acrodermatitis enteropathica" "Acrodermatitis enteropathica (AE) is a rare inherited inborn error of metabolism resulting in a severe zinc deficiency and characterized by acral dermatitis, alopecia, diarrhea and growth failure." "" + "disorder of zinc metabolism" "" + "acrofacial dysostosis Rodriguez type" "Acrofacial dysostosis Rodriguez type is a multiple malformative syndrome in which mandibulofacial dysostosis and severe limb reduction defects are associated with complex malformations of different organs and systems especially the CNS, urogenital tract, heart, and lungs. The mandibulofacial defect, characterized by extremely severe microretrognathism and cleft palate, causes death by respiratory distress. Limb reduction is severe and includes shoulder and pelvis hypoplasia, phocomelia with humerus hypoplasia, absent radius and ulna, complete absence of long bones of the legs, and various hand anomalies, predominantly preaxial reduction (absent thumbs). Other features include CNS malformations (agenesis of corpus callosum and acqueductal stenosis), lung anomalies (absent lung lobulation), complex cardiac malformations, and unicornis uterus. These infants also show facial dysmorphism and ear anomalies. The condition is a rare with an autosomal recessive mode of inheritance. The prognosis is poor and this condition leads to death in utero or shortly after birth." "" + "acrofrontofacionasal dysostosis" "A congenital malformation syndrome characterized by the association of facial and skeletal anomalies with severe intellectual deficit and occasional genitourinary anomalies." "" + "acrogeria" "A congenital skin condition characterized by premature aging, more especially in the form of unusually fragile, thin skin on the hands and feet. Its onset is in early childhood; it progresses over the next few years and then remains stable. A bruising tendency has been observed." "" + "acromesomelic dysplasia, Hunter-Thompson type" "Acromesomelic dysplasia, Hunter-Thomson type is an autosomal recessively inherited form of acromesomelic dysplasia characterized by severe dwarfism (adult height approximately 120 cm) with abnormalities limited to the limbs (affecting the lower limbs more than upper limbs, with middle and distal segments being the most affected), severe shortening, absence or fusion of tubular bones of hands and feet and large joint dislocations. As seen in acromesomelic dysplasia, Grebe type and acromesomelic dysplasia, Maroteaux type, facial features and intelligence are normal." "" + "Morvan syndrome" "Morvan syndrome is a rare, life-threatening, acquired neurologic disease characterized by neuromyotonia, dysautonomia and encephalopathy with severe insomnia. Signs involving central (e.g. hallucinations, confusion, amnesia, myoclonus), autonomic (e.g. variations in blood pressure, hyperhidrosis) and peripheral (e.g. painful cramps, myokymia) hyperactivity, as well as systemic manifestations (such as weight loss, pruritus, fever), are reported. Thymoma is present in some cases." "" + "acrorenal syndrome, autosomal recessive" "Autosomal recessive form of acrorenal syndrome." "" + "congenital isolated adrenocorticotropic hormone deficiency" "A hypopituitarrium that is characterized by a decreased or absent production of adrenocorticotropic hormone by the pituitary gland." "" + "non-acquired pituitary hormone deficiency" "" + "isolated congenital hypogonadotropic hypogonadism" "A congenital hypogonadotropic hypogonadism that is not part of a larger syndrome." "" + "medium chain acyl-CoA dehydrogenase deficiency" "Medium chain acyl-CoA dehydrogenase (MCAD) deficiency (MCADD) is an inborn error of mitochondrial fatty acid oxidation characterized by a rapidly progressive metabolic crisis, often presenting as hypoketotic hypoglycemia, lethargy, vomiting, seizures and coma, which can be fatal in the absence of emergency medical intervention." "" + "acyl-CoA dehydrogenase deficiency" "" + "short chain acyl-CoA dehydrogenase deficiency" "Short-chain acyl-CoA dehydrogenase (SCAD) deficiency is a very rare inborn error of mitochondrial fatty acid oxidation characterized by variable manifestations ranging from asymptomatic individuals (in most cases) to those with failure to thrive, hypotonia, seizures, developmental delay and progressive myopathy." "" + "very long chain acyl-CoA dehydrogenase deficiency" "An inherited disorder of mitochondrial long-chain fatty acid oxidation with a variable presentation including: cardiomyopathy, hypoketotic hypoglycemia, liver disease, exercise intolerance and rhabdomyolysis." "" + "long chain acyl-CoA dehydrogenase deficiency" "A genetic disorder characterized by deficiency of the enzyme long-chain acyl-coenzyme A dehydrogenase that metabolizes long-chain fatty acids. Signs and symptoms appear in infancy or childhood and may be triggered during fasting, illness or exercise. They include hypoglycemia, muscle weakness and lethargy." "" + "adducted thumbs-arthrogryposis syndrome, Christian type" "A type of arthrogryposis characterized by congenital cleft palate, microcephaly, craniostenosis and arthrogryposis (limitation of extension of elbows, flexed adducted thumbs, camptodactyly and clubfeet). Additional features include facial dysmorphism (\"myopathic\" stiff face, antimongoloid slanting, external ophthalmoplegia, telecanthus, low-set large malrotated ears, open mouth, mierogenia and high arched palate). Velopharyngeal insufficiency with difficulties in swallowing, increased secretion of the nose and throat, prominent occiput, generalized muscular hypotonia with mild cyanosis and no spontaneous movements, seizures, torticollis, areflexia, intellectual disability, hypertrichosis of the lower extremities, and scleredema (in the first days of life) are also observed. The disease often leads to early death. Transmission is autosomal recessive. No new cases of adducted thumbs-arthrogryposis, Christian type have been described since 1983." "" + "congenital lipoid adrenal hyperplasia due to STAR deficency" "Congenital lipoid adrenal hyperplasia (CLAH) is one of the most severe forms of congenital adrenal hyperplasia (CAH) characterized by severe adrenal insufficiency and sex reversal in males." "" + "congenital adrenal hyperplasia" "Congenital adrenal hyperplasia (CAH) is an inherited endocrine disorder caused by a steroidogenic enzyme deficiency that is characterized by adrenal insufficiency and variable degrees of hyper or hypo androgeny manifestations, depending of the type and the severity of the disease." "" + "46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect" "True" + "female infertility" "Diminished or absent ability of a female to achieve conception." "" + "Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis" "" + "Antley-Bixler syndrome" "Antley-Bixler syndrome is a very rare disorder characterised by craniosynostosis with midface hypoplasia, radiohumeral synostosis, femoral bowing and joint contractures." "" + "congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency" "Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency is a very rare form of congenital adrenal hyperplasia (CAH) encompassing salt-wasting and non-salt wasting forms with a wide variety of symptoms, including glucocorticoid deficiency and male undervirilization manifesting as a micropenis to severe perineoscrotal hypospadias." "" + "46,XX disorder of sex development induced by fetal androgens excess" "" + "classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency" "The most common form of congenital adrenal hyperplasia (CAH), characterized by simple virilizing or salt wasting forms that can manifest with genital ambiguity in females and with adrenal insufficiency (in both sexes), and that presents with dehydration, hypoglycemia in the neonatal period (that can be lethal if untreated), and hyperandrogenia." "" + "congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency" "Congenital adrenal hyperplasia due to 11 beta-hydroxylase (CYP11B1) deficiency is a rare form of congenital adrenal hyperplasia (CAH) characterized by glucocorticoid deficiency, hyperandrogenism, hypertension and virilization in females." "" + "congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency" "A very rare form of congenital adrenal hyperplasia (CAH) characterized by glucocorticoid deficiency, hypergonadotrophic hypogonadism and severe hypokalemic hypertension." "" + "familial adrenal hypoplasia with absent pituitary luteinizing hormone" "" + "adrenal hypoplasia, cytomegalic type" "" + "X-linked adrenal hypoplasia congenita" "A X-linked condition characterized by underdevelopment of the adrenal gland and adrenal insufficiency caused by mutation(s) in the NR0B1 gene, resulting in decreased activity of the nuclear receptor protein DAX1, which may be associated with hypogonadotropic hypogonadism." "" + "familial glucocorticoid deficiency" "Familial glucocorticoid deficiency (FGD) is a group of primary adrenal insufficiencies characterized clinically by neonatal hyperpigmentation, hypoglycemia, failure to thrive, and recurrent infections, and biochemically by glucocorticoid deficiency without mineralocorticoid deficiency." "" + "adrenocortical carcinoma, hereditary" "An instance of adrenal cortex carcinoma that is caused by an inherited modification of the individual's genome." "" + "adrenocortical unresponsiveness to ACTH with postreceptor defect" "" + "peroxisome biogenesis disorder 2B" "" + "peroxisome biogenesis disorder due to PEX5 defect" "Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX5 gene." "" + "non-classic presentation" "A mild or intermediate form of a genetic disease." "" + "peroxisome biogenesis disorder" "Peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS) is a group of autosomal recessive disorders affecting the formation of functional peroxisomes, characterized by sensorineural hearing loss, pigmentary retinal degeneration, multiple organ dysfunction and psychomotor impairment, and is comprised of the phenotypic variants Zellweger syndrome (ZS), neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD)." "" + "congenital afibrinogenemia" "Familial afibrinogenemia is a coagulation disorder characterized by bleeding symptoms due to a complete absence of circulating fibrinogen." "" + "familial dysfibrinogenemia" "Familial dysfibrinogenemia is a coagulation disorder characterized by a bleeding tendency due to a functional anomaly of circulating fibrinogen." "" + "aganglionosis, total intestinal" "A complete lack of ganglia in the intestine. This is an extremely severe form of aganglionosis distinct from Hirschsprung Disease. This is an n-of-1 use case where only one patient or family has been described with this disorder." "" + "agenesis of cerebral white matter" "" + "agnathia-otocephaly complex" "Agnathia-holoprosencephaly-situs inversus syndrome is an extremely rare and fatal association syndrome, characterized by absence of the mandible, cerebral malformations with facial anomalies related to a defect in cleavage in the embryonic brain (e.g. synophthalmia, malformed and low-set ears fused in midline (otocephaly), agenesis of the olfactory bulbs, microstomia, hypoglossia/aglossia) and situs inversus partialis or totalis." "" + "PAGOD syndrome" "PAGOD syndrome is a severe developmental syndrome characterized by multiple congenital anomalies including cardiovascular defects, pulmonary hypoplasia, diaphragmatic defects and genital anomalies." "" + "autosomal dominant severe congenital neutropenia" "Autosomal dominant form of severe congenital neutropenia." "" + "severe congenital neutropenia" "" + "Stimmler syndrome" "Stimmler syndrome is characterised by the association of microcephaly, low birth weight and severe intellectual deficit with dwarfism, small teeth and diabetes mellitus. Two cases have been described. Biochemical tests reveal the presence of high levels of alanine in the urine and elevated alanine, pyruvate and lactate levels in the blood." "" + "alar cartilages hypoplasia-coloboma-telecanthus syndrome" "Alar cartilages hypoplasia- coloboma- telecanthus is a very rare dysmorphic disorder characterized by hypoplasia and coloboma of the alar cartilages and telecanthus described in 2 sisters. No new cases with similar features have been reported since 1976." "" + "oculocutaneous albinism type 1A" "Oculocutaneous albinism type 1A (OCA1A) is the most severe form of OCA, where no melanin is produced, and is characterized by white hair and skin, blue, fully translucent irises, nystagmus and misrouting of the optic nerves." "" + "oculocutaneous albinism" "Oculocutaneous albinism (OCA) describes a group of inherited disorders of melanin biosynthesis characterized by a generalized reduction in pigmentation of hair, skin and eyes and variable ocular findings including nystagmus, reduced visual acuity and photophobia. Variants include OCA1A (the most severe form), OCA1B, OCA1-minimal pigment (OCA1-MP), OCA1-temperature sensitive (OCA1-TS), OCA2, OCA3, OCA4, OCA5, OCA6 and OCA7." "" + "oculocutaneous albinism type 1" "Type 1 oculocutaneous albinism (OCA1) describes a group of tyrosine related OCAs that includes OCA1A, OCA1B, type 1 minimal pigment oculocutaneous albinism (OCA1-MP) and type 1 temperature sensitive oculocutaneous albinism (OCA1-TS)." "" + "autosomal recessive ocular albinism" "Autosomal recessive form of ocular albinism (disease)." "" + "oculocutaneous albinism type 2" "Oculocutaneous albinism type 2 (OCA2) is a type of OCA and the most common form of OCA seen in the African population, characterized by variable hypopigmentation of the skin and hair, numerous characteristic ocular changes and misrouting of the optic nerves at the chiasm." "" + "oculocutaneous albinism type 3" "Type 3 oculocutaneous albinism (OCA3) is a form of oculocutaneous albinism (OCA) characterized by rufous or brown albinism and occurring mainly in the African population." "" + "Hermansky-Pudlak syndrome 1" "Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the HPS1 gene." "" + "Hermansky-Pudlak syndrome" "Hermansky-Pudlak syndrome (HSP) is a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and, in some cases, neutropenia, pulmonary fibrosis, or granulomatous colitis. HPS comprises eight known disorders (HPS-1 to HPS-8), the majority of which present with the same clinical phenotype to varying degrees of severity." "" + "Hermansky-Pudlak syndrome with pulmonary fibrosis" "Hermansky-Pudlak syndrome with pulmonary fibrosis as a complication includes two types (HPS-1 and HPS-4) of Hermansky-Pudlak syndrome (HPS), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and, in some cases, pulmonary fibrosis or granulomatous colitis." "" + "pseudohypoparathyroidism type 2" "Pseudohypoparathyroidism type 2 (PHP2) is a type of pseudohypoparathyroidism (PHP) characterized by resistance to parathyroid hormone (PTH), which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, absence of Albright's hereditary osteodystrophy (AHO), and normal expression of the Gs protein with a normal urinary cAMP response." "" + "microcephaly-albinism-digital anomalies syndrome" "Microcephaly - albinism - digital anomalies syndrome is a very rare syndrome associating microcephaly, micrognathia, oculocutaneous albinism, hypoplasia of the distal phalanx of fingers and agenesia of the distal end of the right big toe." "" + "corticosterone methyloxidase type 1 deficiency" "" + "familial hyperreninemic hypoaldosteronism type 1" "" + "steroid metabolism disease" "A disease that has its basis in the disruption of steroid metabolic process." "" + "Alexander disease" "Alexander disease (AxD) is a rare neurodegenerative disorder of the astrocytes comprised of two clinical forms: AxD Type I and Type II manifesting with various degrees of macrocephaly, spasticity, ataxia and seizures and leading to psychomotor regression and death." "" + "alkaptonuria" "Alkaptonuria is a metabolic disease characterized by the accumulation of homogentisic acid (HGA) and its oxidized product, benzoquinone acetic acid (BQA), in various tissues (e.g. cartilage, connective tissue) and body fluids (urine, sweat), causing urine to darken when exposed to air as well as grey-blue coloration of the sclera and ear helix (ochronosis), and a disabling joint disease involving both the axial and peripheral joints (ochronotic arthropathy)." "" + "alopecia - contractures - dwarfism - intellectual disability syndrome" "Alopecia-contractures-dwarfism-intellectual disability syndrome (ACD syndrome) is a form of ectodermal dysplasia syndrome characterized by a short stature of prenatal onset, alopecia, ichthyosis, photophobia, ectrodactyly, seizures, scoliosis, multiple contractures, fusions of various bones (particularly elbows, carpals, metacarpals, and spine), intellectual disability, and facial dysmorphism (microdolichocephaly, madarosis, large ears and long nose). ACD syndrome overlaps with ichthyosis follicularis-alopecia-photophobia syndrome." "" + "Moynahan syndrome" "" + "alopecia - intellectual disability syndrome" "Alopecia-intellectual deficit syndrome is an extremely rare syndrome described in less than 20 families to date and characterized by total or partial alopecia associated with intellectual deficit. The syndrome can be associated with other anomalies such as seizures, sensorineural hearing loss, delayed psychomotor development, and/or hypertonia." "" + "alopecia universalis congenita" "The most severe form of alopecia areata, an inflammatory disease of the hair follicle, which is characterized by a complete loss of hair of the scalp and all the hair-bearing areas of the body." "" + "mitochondrial DNA depletion syndrome 4a" "Alpers Huttenlocher syndrome (AHS) is a cerebrohepatopathy and a rare and severe form of mitochondrial DNA (mtDNA) depletion syndrome characterized by the triad of progressive developmental regression, intractable seizures, and hepatic failure." "" + "mitochondrial disease with epilepsy" "True" + "mitochondrial disease with peripheral neuropathy" "True" + "mitochondrial DNA depletion syndrome, hepatocerebral form" "" + "oxoglutaricaciduria" "Oxoglutaric aciduria is a very rare tricarboxylic acid cycle disorder, resulting from a deficiency in alpha-ketoglutarate dehydrogenase (one of the three subunits of the alpha-ketoglutarate dehydrogenase complex), that most often presents in the neonatal period with hypotonia, severe encephalopathy, extrapyramidal signs, pyramidal tract dysfunction and seizures and that frequently results in death in early childhood. Metabolic acidosis, elevated lactate and glutamate levels and variable degrees of glutaric aciduria are noted. Sudden death, myocardiopathy, and hepatic disorders have also been reported in some cases." "" + "tricarboxylic acid cycle disorder" "An acquired metabolic disease that is has its basis in the disruption of tricarboxylic acid cycle." "" + "beta-ketothiolase deficiency" "Beta-ketothiolase (T2) deficiency is a rare organic aciduria affecting ketone body metabolism and the catabolism of isoleucine and characterized by intermittent ketoacidotic episodes associated with vomiting, dyspnea, tachypnoea, hypotonia, lethargy and coma, with an onset during infancy or toddlerhood and usually ceasing by adolescence." "" + "classic organic aciduria" "" + "inborn disorder of ketolysis" "An acquired metabolic disease that is has its basis in the disruption of ketone body catabolic process." "" + "obsolete alpha-2-deficient collagen disease" "" "true" + "autosomal recessive Alport syndrome" "Autosomal recessive Alport syndrome isa genetic condition characterized by kidney disease, hearing loss, and eye abnormalities. Most affected individuals experience progressive loss of kidney function, usually resulting in end-stage kidney disease. People with Alport syndrome frequently develop sensorineural hearing loss in late childhood or early adolescence. The eye abnormalities seen in this condition seldom lead to vision loss. Alport syndrome can have different patterns of inheritance. About15 percentof Alport syndrome cases are inherited in an autosomal recessive pattern and are caused bymutations in both copies of the COL4A3 or COL4A4 genes. Treatment is based on the symptoms present and may include medications to delay the progression of kidney disease. In most cases, a kidney transplant is eventually needed." "" + "Alstrom syndrome" "A multisystemic disorder characterized by cone-rod dystrophy, hearing loss, obesity, insulin resistance and hyperinsulinemia, type 2 diabetes mellitus, dilated cardiomyopathy (DCM), and progressive hepatic and renal dysfunction." "" + "inherited renal tubular disease" "" + "syndrome associated with dilated cardiomyopathy" "True" + "Leber congenital amaurosis 1" "Any Leber congenital amaurosis in which the cause of the disease is a mutation in the GUCY2D gene." "" + "GUCY2D-related recessive retinopathy" "A retinopathy caused by biallelic variants in the GUCY2D gene." "" + "Leber congenital amaurosis 2" "Any Leber congenital amaurosis in which the cause of the disease is a mutation in the RPE65 gene." "" + "RPE65-related recessive retinopathy" "A retinopathy, which may include conditions described as retinitis pigmentosa and Leber congenital amaurosis, caused by biallelic variants in the RPE65 gene." "" + "amaurosis-hypertrichosis syndrome" "Amaurosis hypertrichosis is characterised by severe retinal dystrophy marked by visual impairment and profound photophobia without night blindness. Eye examination suggested a cone-rod type of congenital amaurosis. Trichomegaly, bushy eyebrows with synophyrys, and excessive facial and body hair were also reported. The syndrome has been described in two female cousins both born to consanguineous parents." "" + "neuronal ceroid lipofuscinosis 3" "A condition associated with mutation(s) in the CLN3 gene, encoding battenin. The condition is one of a group of genetically heterogeneous neurodegenerative disorders, characterized by accumulation of intracellular lipopigments." "" + "neuronal ceroid lipofuscinosis" "A group of inherited progressive degenerative brain diseases characterized clinically by a decline of mental and other capacities, epilepsy, and vision loss through retinal degeneration, and histopathologically by intracellular accumulation of an autofluorescent material, ceroid lipofuscin, in the neuronal cells in the brain and in the retina." "" + "juvenile neuronal ceroid lipofuscinosis" "A genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs) typically characterized by onset at early school age with vision loss due to retinopathy, seizures and the decline of mental and motor capacities." "" + "ceroid lipofuscinosis, neuronal, 6B (Kufs type)" "Any neuronal ceroid lipofuscinosis in which the cause of the disease is a mutation in the CLN6 gene." "" + "neuronal ceroid lipofuscinosis 2" "A condition associated with mutation(s) in the TPP1 gene, encoding tripeptidyl-peptidase- 1. The condition is one of a group of genetically heterogeneous neurodegenerative disorders, characterized by accumulation of intracellular lipopigments." "" + "late infantile neuronal ceroid lipofuscinosis" "A genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs) typically characterized by onset during infancy or early childhood with decline of mental and motor capacities, epilepsy, and vision loss through retinal degeneration." "" + "amelogenesis imperfecta type 1C" "" + "amelogenesis imperfecta type 1G" "An extremely rare syndrome which is characterized by hypoplastic amelogenesis imperfecta (hypoplastic dental enamel) and nephrocalcinosis (precipitation of calcium salts in renal tissue). Oral manifestations include yellow and misshaped teeth, delayed tooth eruption, and intrapulpal calcifications. Nephrocalcinosis is often asymptomatic but can progress during late childhood or early adulthood to impaired renal function (e.g. recurrent urinary infections and renal tubular acidosis), and rarely to end-stage renal failure." "" + "amelogenesis imperfecta type 2A1" "Any amelogenesis imperfecta in which the cause of the disease is a mutation in the KLK4 gene." "" + "amelogenesis imperfecta type 2" "" + "amino aciduria with mental deficiency, dwarfism, muscular dystrophy, osteoporosis, and acidosis" "" + "2-aminoadipic 2-oxoadipic aciduria" "" + "inborn disorder of lysine and hydroxylysine metabolism" "" + "Amobarbital, deficient N-hydroxylation of" "" + "amyloidosis of gingiva and conjunctiva, with intellectual disability" "" + "gelatinous drop-like corneal dystrophy" "Gelatinous drop-like corneal dystrophy (GDCD) is a form of superficial corneal dystrophy characterized by multiple prominent milky-white gelatinous nodules beneath the corneal epithelium, and marked visual impairment." "" + "amyloidosis, cutaneous bullous" "" + "amyotrophic lateral sclerosis type 2, juvenile" "Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the ALS2 gene." "" + "juvenile amyotrophic lateral sclerosis" "Juvenile amyotrophic lateral sclerosis (JALS) is a very rare severe motor neuron disease characterized by progressive upper and lower motor neuron degeneration causing facial spasticity, dysarthria, and gait disorders with onset before 25 years of age." "" + "juvenile amyotrophic lateral sclerosis with dementia" "A juvenile amyotrophic lateral sclerosis that is slowly progressive with concomitantly progressive dementia." "" + "amyotrophic lateral sclerosis with polyglucosan bodies" "" + "Tangier disease" "Tangier disease (TD) is a rare lipoprotein metabolism disorder characterized biochemically by an almost complete absence of plasma high-density lipoproteins (HDL), and clinically by liver, spleen, lymph node and tonsil enlargement along with peripheral neuropathy in children and adolescents, and, occasionally, cardiovascular disease in adults." "" + "hypoalphalipoproteinemia" "A metabolic disorder characterized by deficiency of high density (alpha) lipoprotein in the blood." "" + "obsolete autoimmune hemolytic anemia" "" "true" + "sideroblastic anemia 2" "" + "autosomal recessive sideroblastic anemia" "Congenital autosomal recessive sideroblastic anemia (ARSA) is a non-syndromic, microcytic/hypochromic sideroblastic anemia, present from early infancy and characterized by severe microcytic anemia, which is not pyridoxine responsive, and increased serum ferritin." "" + "pyridoxine-responsive sideroblastic anemia" "" + "microcytic anemia with liver iron overload" "Congenital hypochromic microcytic anemia with progressive liver iron overload paradoxically associated with normal to moderately elevated serum ferritin levels has been described in three unrelated patients." "" + "constitutional anemia due to iron metabolism disorder" "True" + "IRIDA syndrome" "IRIDA (Iron-refractory iron deficiency anemia) syndrome is a rare autosomal recessive iron metabolism disorder characterized by iron deficiency anemia (hypochromic, microcytic) that is often unresponsive to oral iron intake and partially responsive to parenteral iron treatment." "" + "anemia, nonspherocytic hemolytic, associated with abnormality of red cell membrane" "" + "anemia, nonspherocytic hemolytic, possibly due to defect in porphyrin metabolism" "" + "isolated anencephaly/exencephaly" "Anencephaly is a neural tube defect. This malformation is characterized by the total or partial absence of the cranial vault and the covering skin, the brain being missing or reduced to a small mass. Most cases are stillborn, although some infants have been reported to survive for a few hours or even a few days." "True" + "familial angiolipomatosis" "Familial angiolipomatosis is a rare, genetic, subcutaneous tissue disorder characterized by the presence of benign, usually multiple, subcutaneous tumors composed of adipose tissue and blood vessels, typically manifesting as yellow, firm, circumscribed, 1-4 cm in diameter tumors located in the arms, legs and trunk, with deep extension of the lesions between muscles, tendons and joint capsules (without infiltration of these structures), in several members of a single family. Tumors may be tender or mildly painful when palpated and do not regress spontaneously." "" + "angiomatosis, diffuse Corticomeningeal, of Divry and van Bogaert" "" + "anhidrosis, familial generalized, with abnormal or absent sweat glands" "" + "aniridia-cerebellar ataxia-intellectual disability syndrome" "Aniridia-cerebellar ataxia-intellectual disability syndrome, also known as Gillespie syndrome, is a rare, congenital, neurological disorder characterized by the association of partial bilateral aniridia with non-progressive cerebellar ataxia, and intellectual disability." "" + "aniridia-renal agenesis-psychomotor retardation syndrome" "Aniridia - renal agenesis - psychomotor retardation is an extremely rare syndrome reported in two siblings of non consanguineous parents that is characterized by the association of ocular abnormalities (partial aniridia, congenital glaucoma, telecanthus) with frontal bossing, hypertelorism, unilateral renal agenesis and mild psychomotor delay. There have been no further descriptions in the literature since 1974." "" + "anodontia" "Anodontia is an extreme developmental dental anomaly characterized by the complete absence of all teeth." "" + "nonsyndromic congenital nail disorder 4" "Any isolated congenital anonychia in which the cause of the disease is a mutation in the RSPO4 gene." "" + "anophthalmia/microphthalmia-esophageal atresia syndrome" "Anophthalmia-esophageal atresia syndrome belongs to the group of syndromic microphthalmias and is characterized by the association of uni- or bilateral anophthalmia or microphthalmia, and esophageal atresia with or without trachoesophageal fistula." "" + "syndromic microphthalmia" "A microphthalmia that is part of a larger syndrome." "" + "microphthalmia with limb anomalies" "Microphthalmia with limb anomalies, also known as ophthalmo-acromelic syndrome (OAS), is a rare developmental disorder characterized by bilateral microphthalmia or anophthalmia, synostosis, syndactyly, oligodactyly and/or polydactyly." "" + "anosmia for isobutyric acid" "" + "antithrombin, familial hemorrhagic diathesis due to" "" + "craniosynostosis syndrome, autosomal recessive" "Autosomal recessive form of craniosynostosis." "" + "obsolete anus, imperforate" "" "true" + "obsolete Takayasu's arteritis" "" "true" + "Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome" "Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis is an extremely rare congenital limb malformation syndrome, described in only 3 patients to date, and characterized by the association of hypoplasia or aplasia of the hand and foot phalanges, hemivertebrae and various urogenital and/or intestinal abnormalities (i.e. dysgenesis of the urogenital tract and rectum). There have been no further descriptions in the literature since 1991." "" + "apnea, central sleep" "" + "aplasia cutis congenita-intestinal lymphangiectasia syndrome" "Aplasia cutis congenita - intestinal lymphangiectasia is an extremely rare association syndrome, described in only two brothers to date (one of which died at 2 months of age), characterized by aplasia cutis congenita of the vertex and generalized edema (as well as hypoproteinemia and lymphopenia) due to intestinal lymphangiectasia. There have been no further descriptions in the literature since 1985." "" + "primary lymphedema" "A congenital condition that results in swelling in the arms or legs, and can occur during adolescence or adulthood. Loss of motion and pain may also accompany the swelling. Protein-rich lymphatic fluid accumulates in tissues, engorging and enlarging vessels and often causing visible swelling, tenderness, and pain. Left untreated, the affected tissues may continue to swell, and can become hardened or fibrotic and susceptible to infection." "" + "polyneuropathy-hand defect syndrome" "Digital extensor muscle aplasia-polyneuropathy is a rare, hereditary motor and sensory neuropathy characterized by flexion deformities of the thumb and fingers, sensory deficit in the hand and polyneuropathic electrophysiologic findings in the limbs. Operation on the hands reveals extensor muscles and their tendons to be absent or hypoplastic. There have been no further descriptions in the literature since 1986." "" + "hereditary motor and sensory neuropathy" "A group of slowly progressive inherited disorders affecting motor and sensory peripheral nerves. Subtypes include HMSNs I-VII. HMSN I and II both refer to CHARCOT-MARIE-Tooth DISEASE. HMSN III refers to hypertrophic neuropathy of infancy. HMSN IV refers to REFSUM DISEASE. HMSN V refers to a condition marked by a hereditary motor and sensory neuropathy associated with spastic paraplegia (see SPASTIC PARAPLEGIA, HEREDITARY). HMSN VI refers to HMSN associated with an inherited optic atrophy (OPTIC ATROPHIES, HEREDITARY), and HMSN VII refers to HMSN associated with retinitis pigmentosa. (From Adams et al., Principles of Neurology, 6th ed, p1343)" "" + "hereditary sensory and autonomic neuropathy" "An instance of sensory peripheral neuropathy that is caused by an inherited modification of the individual's genome." "" + "familial apolipoprotein C-II deficiency" "" + "XK aprosencephaly" "XK aprosencephaly is a very rare syndromic type of cerebral malformation characterized by aprosencephaly (absence of telencephalon and diencephalon), oculo-facial anomalies (i.e. ocular hypotelorism or cyclopia, malformation/absence of nasal structures, cleft lip), preaxial limb defects (i.e. hypoplastic hands, absent halluces) and various other anomalies including ambiguous genitalia, imperforate anus, and vertebral anomalies. The syndrome is thought to have an autosomal recessive mode of inheritance." "" + "cerebral malformation" "" + "AREDYLD syndrome" "AREDYLD stands for acral-renal-ectodermal-dysplasia-lipoatrophic-diabetes. This syndrome has been described in three individuals, one of whom was born to consanguineous parents. All patients had lipoatrophy, diabetes mellitus, generalized hypotrichosis, ectodermal dysplasia, renal alterations, dental abnormalities and other manifestations. It is probably transmitted as an autosomal recessive trait." "" + "central nervous system cystic malformation" "" + "pituitary hormone deficiency from meningeal origin" "" + "obsolete rare genetic developmental defect during embryogenesis" "True" "true" + "hyperargininemia" "Arginase deficiency is a rare autosomal recessive amino acid metabolism disorder characterized clinically by variable degrees of hyperammonemia, developing from about 3 years of age, and leading to progressive loss of developmental milestones and spasticity in the absence of treatment." "" + "argininosuccinic aciduria" "Argininosuccinic aciduria (ASA) is a disorder of urea cycle metabolism most commonly characterized by either a severe, neonatal-onset form that manifests with hyperammonemia accompanied with vomiting, hypothermia, lethargy and poor feeding in the first few days of life, or late-onset forms (any age outside the newborn period) that manifest with stress or infection-induced episodic hyperammonemia or, in some, behavioral abnormalities and/or learning disabilities. Patients often manifest liver dysfunction." "" + "Chiari malformation type II" "Arnold-Chiari malformation type II is a rare, central nervous system malformation characterized by caudal displacement of the cerebellum, pons, medulla and fourth ventricle through the foramen magnum into the spinal canal, and is typically associated with myelomeningocele. Variable other central nervous system abnormalities might be present (partial or complete agenesis of the corpus callosum, a small fourth ventricle, obstructive hydrocephalus, falx and tentorium defects, and polygyria). Symptoms include hypotonia, apnea with cyanosis, dysphagia, opisthotonus, nystagmus, spasticity, ataxia, and occipital headache." "" + "spina bifida cystica" "A congenital abnormality in which the spinal cord and meninges protrude through a defect in the spinal column. The protrusion is above the skin surface." "" + "arterial calcification, generalized, of infancy, 1" "An autosomal recessive genetic disorder caused by mutations in the ENPP1 gene, encoding ectonucleotide pyrophosphatase/phosphodiesterase family member 1. The condition is characterized by calcification and narrowing of medium- and large-sized arteries, resulting in cardiovascular complications." "" + "arterial calcification of infancy" "Idiopathic arterial calcification of infancy is a rare condition characterized by extensive calcification and stenosis of the large and medium sized arteries." "" + "arterial tortuosity syndrome" "Arterial tortuosity syndrome (ATS) is a rare connective tissue disorder characterized by tortuosity and elongation of the large and medium-sized arteries and a propensity towards aneurysm formation, vascular dissection, and stenosis of the pulmonary arteries." "" + "arteriosclerosis, severe juvenile" "" + "obsolete arthrogryposis, distal, with hypopituitarism, intellectual disability, and facial anomalies" "" "true" + "arthrogryposis, distal, with intellectual disability and characteristic facies" "" + "arthrogryposis, renal dysfunction, and cholestasis 1" "Any arthrogryposis-renal dysfunction-cholestasis syndrome in which the cause of the disease is a mutation in the VPS33B gene." "" + "arthrogryposis-renal dysfunction-cholestasis syndrome" "Arthrogryposis-Renal dysfunction-Cholestasis (ARC) syndrome is a multisystem disorder, characterized by neurogenic arthrogryposis multiplex congenita, renal tubular dysfunction and neonatal cholestasis with low serum gamma-glutamyl transferase activity." "" + "arthrogryposis multiplex congenita 2, neurogenic type" "Neurogenic arthrogryposis multiplex congenita is a form of arthrogryposis multiplex congenita characterized by congenital immobility of the limbs with fixation of multiple joints and muscle wasting. This condition is secondary to neurogenic muscular atrophy." "" + "fetal akinesia deformation sequence" "Fetal akinesia deformation sequence (FADS) is a condition characterized by decreased fetal movement (fetal akinesia) as well as intra-uterine growth restriction (IUGR), multiple joint contractures (arthrogryposis), facial anomalies, underdevelopment of the lungs (pulmonary hypoplasia) and other developmental abnormalities. It is generally accepted that this condition is not a true diagnosis or a specific syndrome, but rather a description of a group of abnormalities resulting from fetal akinesia. About 30% of affected individuals are stillborn; many liveborn infants survive only a short time due to complications of pulmonary hypoplasia. FADS may be inherited in an autosomal recessive manner in some cases and may sometimes be caused by mutations in the RAPSN or DOK7 genes." "" + "syndromic respiratory or mediastinal malformation" "A respiratory or mediastinal malformation that is part of a larger syndrome." "" + "arthrogryposis multiplex congenita-whistling face syndrome" "Arthrogryposis multiplex congenita-whistling face syndrome is an extremely rare type of arthrogryposis multiplex congenita characterized by the combination of multiple joint contractures with movement limitation, microstomia with a whistling appearance of the mouth that may cause feeding, swallowing, and speech difficulties, a distinctive expressionless facies, severe developmental delay, central and autonomous nervous system dysfunction (excessive salivation, temperature instability, myoclonic epileptic fits, bradycardia), occasionally Pierre-Robin sequence, and lethality generally occurring during the first months of life. Arthrogryposis multiplex congenita-whistling face syndrome has been suggested to be a fetal akinesia deformation sequence." "" + "arthrogryposis-hyperkeratosis syndrome, lethal form" "Arthrogryposis-hyperkeratosis syndrome, lethal form is an arthrogryposis syndrome, described in two siblings to date, characterized by the association of multiple congenital joint contractures (of the large joints, fingers and toes) and hyperkeratosis (i.e. thick, scaling and fissured skin), with death occurring in early infancy. There have been no further reports in the literature since 1993." "" + "progressive pseudorheumatoid arthropathy of childhood" "Progressive pseudorheumatoid arthropathy (dysplasia) of childhood (PPAC; PPD) presents as spondyloepiphyseal dysplasia (SED) tarda with progressive arthropathy and is described as a specific autosomal recessive subtype of SED." "" + "camptodactyly-arthropathy-coxa vara-pericarditis syndrome" "Camptodactyly-arthropathy-coxa-vara-pericarditis (CACP) syndrome is a rare, genetic, rheumatologic disease characterized by congenital or early-onset camptodactyly and symmetrical, polyarticular, non-inflammatory, large joint arthropathy with synovial hyperplasia, as well as progressive coxa vara deformity and, occasionally, non-inflammatory pericarditis." "" + "chylous ascites" "Chylous ascites is a rare form of ascites caused by accumulation of lymph in the peritoneal cavity, usually due to intra-abdominal malignancy, liver cirrhosis or abdominal surgery complications, and present with painless but progressive abdominal distension, dyspnea and weight gain." "" + "aspartylglucosaminuria" "Aspartylglycosaminuria (AGU) is an autosomal recessive lysosomal storage disease belonging to the oligosaccharidosis group (also called glycoproteinosis)." "" + "oligosaccharidosis" "" + "asphyxiating thoracic dystrophy 1" "An asphyxiating thoracic dystrophy associated with variation in the region 15q13." "" + "Jeune syndrome" "Jeune syndrome, also called asphyxiating thoracic dystrophy, is a short-rib dysplasia characterized by a narrow thorax, short limbs and radiological skeletal abnormalities including \"trident\" aspect of the acetabula and metaphyseal changes." "" + "right atrial isomerism" "A visceral heterotaxy characterized by complete atrioventricular septal defect with a common atrium and univentricular AV connection, total anomalous pulmonary drainage, and transposition or malposition of the great arteries and may be associated with bilateral trilobed lungs, midline liver, asplenia and situs inversus affecting other organs that has material basis in homozygous mutation in the GDF1 gene on chromosome 19p12." "" + "visceral heterotaxy" "A rare, genetic disorder in which symptoms are generally secondary to the abnormal location of the organs within the thoracic, abdominal, or peritoneal cavities. Anatomic and functional problems can include cardiac defects, intestinal malrotation leading to volvulus, biliary atresia, and various defects of the central nervous system, urinary tract, and skeleton." "" + "renal-hepatic-pancreatic dysplasia 1" "Any renal-hepatic-pancreatic dysplasia in which the cause of the disease is a mutation in the NPHP3 gene." "" + "renal-hepatic-pancreatic dysplasia" "Renal-hepatic-pancreatic dysplasia is a rare, genetic, developmental defect during embryogenesis syndrome characterized by the triad of pancreatic fibrosis (and cysts, with a reduction of parenchymal tissue), renal dysplasia (with peripheral cortical cysts, primitive collecting ducts, glomerular cysts and metaplastic cartilage) and hepatic dysgenesis (enlarged portal areas containing numerous elongated binary profiles with a tendancy to perilobular fibrosis). Situs abnormalities, skeletal anomalies and anencephaly have also been associated. Patients that survive the neonatal period present renal insufficiency, chronic jaundice and insulin-dependant diabetes." "" + "asthma, nasal polyps, and aspirin intolerance" "" + "asthma, short stature, and elevated IgA" "" + "ataxia with myoclonic epilepsy and presenile dementia" "" + "ataxia, deafness, and cardiomyopathy" "" + "ataxia - deafness - intellectual disability syndrome" "This syndrome is characterised by progressive ataxia beginning during childhood, deafness and intellectual deficit." "" + "X-linked deafness" "" + "ataxia-microcephaly-cataract syndrome" "" + "ataxia telangiectasia" "Ataxia-telangiectasia is the association of severe combined immunodeficiency (affecting mainly the humoral immune response) with progressive cerebellar ataxia. It is characterised by neurological signs, telangiectasias, increased susceptibility to infections and a higher risk of cancer." "" + "combined immunodeficiency" "A broad classification of inherited disorders presenting at birth that affect both the cell-mediated and humoral aspects of the immune response. Circulating numbers of B lymphocytes, T lymphocytes and NK cells are variable but where present do not function properly. Susceptibility to infection is the primary concern." "" + "ataxia-telangiectasia with generalized skin pigmentation and early death" "" + "ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia" "A rare autosomal recessive cerebellar ataxia (ARCA), characterized by progressive cerebellar ataxia associated with oculomotor apraxia, severe neuropathy, and hypoalbuminemia." "" + "ataxia-telangiectasia-like disorder" "An autosomal recessive condition caused by mutation(s) in the MRE11A gene, encoding double-strand break repair protein MRE11. It is characterized by progressive cerebellar degeneration resulting in ataxia and oculomotor apraxia." "" + "coenzyme Q10 deficiency" "A genetically heterogeneous condition, typically inherited in an autosomal recessive fashion, characterized by coenzyme Q10 deficiency." "" + "atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome" "Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome is characterised by sensorineural deafness, diabetes mellitus, progressive neurological deterioration with photomyoclonic epilepsy, and progressive nephropathy. It has been described in two brothers. Premature atherosclerosis of renal, coronary, and cerebral arteries and the aorta was also observed." "" + "Athrombia, essential" "" + "atonic-astatic syndrome of Foerster" "" + "atransferrinemia" "Congenital atransferrinemia is a very rare hematologic disease caused by a transferrin (TF) deficiency and characterized by microcytic, hypochromic anemia (manifesting with pallor, fatigue and growth retardation) and iron overload, and that can be fatal if left untreated." "" + "atrichia with papular lesions" "Atrichia with papular lesions is a rare inherited form of alopecia characterized by irreversible hair loss during the neonatal period on all hear-bearing areas of the body, later associated with the development of papular lesions all over the body and preferentially on the face and extensor surfaces of the extremities." "" + "atrophoderma vermiculata" "" + "Cooper-Jabs syndrome" "Cooper-Wang-Jabs syndrome is a multiple malformation syndrome characterized by atresia of the auditory canal together with ventricular septal defect, anteriorly displaced anus, mild clubfoot, and intellectual deficit. It has been described only once, in two sisters. The mode of inheritance is most likely autosomal recessive." "" + "obsolete autism" "" "true" + "congenital central hypoventilation syndrome" "A rare disease due to a severely impaired central autonomic control of breathing and dysfunction of the autonomous nervous system. The incidence is estimated to be at 1 of 200 000 livebirths. A heterozygous mutation of PHOX-2B gene is found in 90% of the patients. Association with a Hirschsprung's disease is observed in 16% of the cases. Despite a high mortality rate and a lifelong dependence to mechanical ventilation, the long-term outcome of CCHS should be ultimately improved by multidisciplinary and coordinated follow-up of the patients." "" + "Barber-Say syndrome" "Barber Say syndrome (BSS) is a rare ectodermal dysplasia with neonatal onset characterized by congenital generalized hypertrichosis, atrophic skin, ectropion and microstomia." "" + "congenital entropion" "" + "Bardet-Biedl syndrome 1" "A Bardet-Biedl syndrome that has material basis in homozygous mutation in the BBS1 gene on chromosome 11q13." "" + "Bardet-Biedl syndrome" "A ciliopathy with multisystem involvement. It is invariantly characterized by rod-cone dystrophy, and at least three additional non-ocular features such as intellectual disability, obesity, polydactyly, hypogonadism, or renal anomalies as primary manifestations. In the absence of one of these four primary clinical features, the diagnosis of BBS is made when at least two secondary features are observed, including hepatic fibrosis, diabetes mellitus, reproductive and developmental abnormalities, growth retardation, speech delays, or cardiovascular problems" "" + "MHC class II deficiency" "Immunodeficiency by defective expression of HLA class 2 is a rare primary genetic immunodeficiency disorder characterized by partial or complete absence of human leukocyte antigen class 2 expression resulting in severe defect in both cellular and humoral immune response to antigens. The disorder presents clinically as marked susceptibility to infections, severe malabsorption and failure to thrive and is often fatal in early childhood." "" + "non-SCID combined immunodeficiency" "" + "immunodeficiency 27A" "" + "inherited susceptibility to mycobacterial diseases" "Mendelian susceptibility to mycobacterial diseases (MSMD) is a rare immunodeficiency syndrome, characterized by a narrow vulnerability to poorly virulent mycobacteria, such as bacillus Calmette-Guerin (BCG) vaccines and environmental mycobacteria (EM), and defined by severe, recurrent infections, either disseminated or localized." "" + "Beemer-Ertbruggen syndrome" "Beemer-Ertbruggen syndrome is a lethal malformation syndrome reported in 2 brothers of first-cousin parents that is characterized by hydrocephalus, cardiac malformation, dense bones, and unusual facies with down-slanting palpebral fissures, bulbous nose, broad nasal bridge, micrognathia and a long upper lip. Transmission is likely autosomal recessive. There have been no further descriptions in the literature since 1984." "" + "Behr syndrome" "Behr syndrome is a disorder characterized by early-onset optic atrophy along with neurological features, including ataxia, spasticity, and intellectual disability. Other signs and symptoms may be present and vary from person to person. This condition is caused by mutations in the OPA1 gene. It is inherited in an autosomal recessive manner. Treatment depends on the specific signs and symptoms seen in the patient." "" + "syndromic hereditary optic neuropathy" "A hereditary optic neuropathy that is part of a larger syndrome." "" + "berry aneurysm, cirrhosis, pulmonary emphysema, and cerebral calcification" "" + "beta-aminoisobutyric acid, urinary excretion of" "" + "3-methylcrotonyl-CoA carboxylase 1 deficiency" "Any 3-methylcrotonyl-CoA carboxylase deficiency in which the cause of the disease is a mutation in the MCCC1 gene." "" + "3-methylcrotonyl-CoA carboxylase deficiency" "3-methylcrotonyl-CoA carboxylase deficiency (3-MCCD) is an inherited disorder of leucine metabolism characterized by a highly variable clinical picture ranging from metabolic crisis in infancy to asymptomatic adults." "" + "3-methylcrotonyl-CoA carboxylase 2 deficiency" "Any 3-methylcrotonyl-CoA carboxylase deficiency in which the cause of the disease is a mutation in the MCCC2 gene." "" + "sitosterolemia" "A rare autosomal recessive sterol storage disease characterized by the accumulation of phytosterols in the blood and tissues. Clinical manifestations include xanthomas, arthralgia and premature atherosclerosis. Hematological manifestations include hemolytic anemia with stomatocytosis and macrothrombocytopenia. The disease is caused by homozygous or compound heterozygous mutations in ABCG5 (2p21) and ABCG8 (2p21) genes." "" + "Biemond syndrome type 2" "Biemond syndrome type 2 (BS2) is a rare genetic neurological and developmental disorder reported in a very small number of patients with a poorly defined phenotype which includes iris coloboma, short stature, obesity, hypogonadism, postaxial polydactyly, and intellectual disability. Hydrocephalus and facial dysostosis were also reported. BS2 shares features with Bardet-Biedl syndrome. There have been no further descriptions in the literature since 1997." "" + "Bietti crystalline corneoretinal dystrophy" "Bietti's crystalline dystrophy (BCD) is a rare progressive autosomal recessive tapetoretinal degeneration disease, occurring in the third decade of life, characterized by small sparkling crystalline deposits in the posterior retina and corneal limbus in addition to sclerosis of the choroidal vessels and manifesting as nightblindness, decreased vision, paracentral scotoma, and, in the end stages of the disease, legal blindness." "" + "bifid nose, autosomal recessive" "Autosomal recessive form of bifid nose." "" + "biliary atresia" "A rare, biliary tract disease characterized by progressive obliterative cholangiopathy of the intra- and extrahepatic bile ducts, occuring in the embryonic/ perinatal period, leading to severe and persistent neonatal jaundice and acholic stool." "" + "biliary malformation with renal tubular insufficiency" "" + "Seckel syndrome 1" "Any Seckel syndrome in which the cause of the disease is a mutation in the ATR gene." "" + "Seckel syndrome" "A rare autosomal recessive inherited syndrome caused by mutations in the ATR gene, RBBP8 gene, CENPJ gene, CEP152 gene, CEP63 gene, NIN gene, DNA2 gene, or TRAIP gene. It is characterized by intrauterine growth retardation, dwarfism, microcephaly, mental retardation, and a \"bird-headed\" facial appearance." "" + "bird headed-dwarfism, Montreal type" "Microcephalic primordial dwarfism, Montreal type is a rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by severe short stature and craniofacial dysmorphism (microcephaly, narrow face with flat cheeks, ptosis, prominent nose with a convex ridge, low-set ears with small or absent lobes, high-arched/cleft palate, micrognathia), associated with premature graying and loss of scalp hair, redundant, dry and wrinkled skin of the palms, premature senility and varying degrees of intellectual disability. Cryptorchidism and skeletal anomalies may also be observed. There have been no further descriptions in the literature since 1970." "" + "microcephalic primordial dwarfism" "" + "microcephalic osteodysplastic primordial dwarfism type I" "A microcephalic osteodysplastic primordial dwarfism that has material basis in homozygous or compound heterozygous mutation in the RNU4ATAC gene, encoding a small nuclear RNA (snRNA) component of the U12-dependent (minor) spliceosome, on chromosome 2q14.2. It is characterized by dwarfism, microcephaly, and neurologic abnormalities, including mental retardation, brain malformations, and ocular, auditory sensory deficits." "" + "microcephalic osteodysplastic primordial dwarfism types I and III" "Microcephalic osteodysplastic primordial dwarfism (MOPD) types 1 and 3 are characterized by intrauterine and postnatal growth retardation, microcephaly, facial dysmorphism, skeletal dysplasia, low-birth weight and brain anomalies. Although MOPD types 1 and 3 were originally described as two separate entities on the basis of radiological criteria (notably small differences in pelvic and long bone structure), later reports confirmed that the two forms represent different modes of expression of the same syndrome." "" + "microcephalic osteodysplastic primordial dwarfism type II" "'Microcephalic osteodysplastic primordial dwarfism type II (MOPDII) is a form of microcephalic primordial dwarfism (MPD) characterized by severe pre- and postnatal growth retardation, with marked microcephaly in proportion to body size, skeletal dysplasia, abnormal dentition, insulin resistance, and increased risk for cerebrovascular disease.'" "" + "microcephalic osteodysplastic primordial dwarfism, type 3" "" + "Bangstad syndrome" "Bangstad syndrome is a rare endocrine disease characterized by the association of primordial birdheaded nanism, progressive ataxia, goiter, primary gonadal insufficiency and insulin resistant diabetes mellitus. Plasma concentrations of TSH, PTH, LH, FSH, ACTH, glucagon, and insulin are usually elevated. A generalized cell membrane defect was suggested to be the pathophysiological abnormality in these patients. The mode of inheritance was thought to be autosomal recessive. There have been no further descriptions in the literature since 1989." "" + "polyendocrinopathy" "" + "blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome" "Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome is characterised by the association of blepharophimosis and ptosis, V-esotropia, and weakness of extraocular and frontal muscles with syndactyly of the toes, short stature, prognathism, and hypertrophy and fusion of the eyebrows. It has been described in six members of three related families. Transmission is autosomal recessive." "" + "Bloom syndrome" "Bloom syndrome (BSyn) is a rare chromosomal breakage syndrome characterized by a marked genetic instability associated with pre- and postnatal growth retardation, facial sun-sensitive telangiectatic erythema, increased susceptibility to infections, and predisposition to cancer." "" + "hereditary photodermatosis" "Hereditary photodermatoses are a spectrum of rare photosensitive disorders that are often caused by genetic deficiency or malfunction of various components of the DNA repair pathway. This results clinically in extreme photosensitivity, with many syndromes exhibiting an increased risk of cutaneous malignancies." "" + "microcephaly, growth restriction and increased sister chromatid exchange" "" + "blue diaper syndrome" "Blue Diaper syndrome is a hereditary metabolic disorder characterised by hypercalcaemia with nephrocalcinosis and indicanuria." "" + "inborn disorder of amino acid absorption and transport" "" + "bone dysplasia, lethal Holmgren type" "Bone dysplasia lethal Holmgren type (BDLH) is a lethal bone dysplasia characterized at birth by low birth weight, a rhizomelic dwarfism, bent femora and short chest producing asphyxia. It was described in three siblings from healthy, non-consanguineous parents of Finnish and in four siblings from non-consanguineous parents of French origin with no family history of dwarfism. The initial cases could have been diagnosed as Desbuquois syndrome, or a recessive Larsen syndrome. There has been no further description of BDLH in the literature since 1988." "" + "lethal chondrodysplasia" "" + "Bowen-Conradi syndrome" "Bowen-Conradi syndrome (BCS) is a lethal autosomal recessive ribosomal biogenesis disorder characterized by severe prenatal and postnatal growth retardation, microcephaly, a distinctive facial appearance, extreme psychomotor delay, hip and knee contractures and rockerbottom feet." "" + "Bowen syndrome of multiple malformations" "" + "kyphomelic dysplasia" "Kyphomelic dysplasia is a prenatal skeletal disease that causes dwarfism characterized bythe following: a disproportionately short stature with a short narrow chest,shortening and bending (bowing)of the limbs, flared irregular metaphyses of the bones, and characteristicfacial features.Bone changes are said to improve with age.Kyphomelic dysplasia is inherited in an autosomal recessive pattern. Recent studies indicate that Kyphomelic dysplasia is no longerconsidered it's ownentity and that individual cases should be further evaluated andre-classified as another existing chondrodysplasias, such as Schwartz-Jampel syndrome." "" + "congenital bowing of long bones" "Long bone bowing is a congenital condition described by the presence of symmetric or asymmetric angular deformity and shortening of the long bones, particularly the femurs, tibiae and ulnae." "" + "brachydactyly, type A2, with microcephaly" "" + "oculoosteocutaneous syndrome" "A syndrome is characterised by congenital anodontia, a small maxilla, short stature with shortened metacarpals and metatarsals, sparse hair, albinoidism and multiple ocular anomalies. It has been described in three siblings (one brother and two sisters). Transmission is autosomal recessive." "" + "Elsahy-Waters syndrome" "An extremely rare multiple congenital anomalies/dysmorphic syndrome, described in three boys from one family, and characterized by intellectual disability, hypertelorism, broad and flat nasal bridge, maxillary hypoplasia, mandibular prognathism, bifid uvula or partial cleft palate, multiple dental cysts, Schmorl nodes, fused cervical spinous processes, pectus excavatum, and penoscrotal hypospadias. There have been no further descriptions in the literature since 1971." "" + "Sabinas brittle hair syndrome" "" + "bronchiectasis with or without elevated sweat chloride 1" "" + "idiopathic bronchiectasis" "Idiopathic bronchiectasis (IB) is a progressive lung disease characterized by chronic dilation of the bronchi and destruction of the bronchial walls in the absence of any underlying cause (such as post infectious disease, aspiration, immunodeficiency, congenital abnormalities and ciliary anomalies)." "" + "Williams-Campbell syndrome" "" + "thromboangiitis obliterans" "Buerger disease, also known as thromboangiitis obliterans (TAO), is a rare inflammatory non-necrotizing vascular disease affecting the small- and medium-sized arteries and veins of the upper and lower extremities characterized by endarteritis and vaso-occlusion due to occlusive thrombus development. The development and progression of the disease is consistently associated with exposure to tobacco." "" + "predominantly medium-vessel vasculitis" "" + "riboflavin transporter deficiency" "A progressive motor neuron disorder characterized by respiratory insufficiency, sensorineural deafness and progressive ponto-bulbar palsy." "" + "bulbospinal muscular atrophy of childhood" "A bulbospinal muscular atrophy that occurs during childhood." "" + "progressive familial intrahepatic cholestasis type 1" "PFIC1, a type of progressive familial intrahepathic cholestasis (PFIC), is an infantile hereditary disorder in bile formation that is hepatocellular in origin and associated with extrahepatic features." "" + "progressive familial intrahepatic cholestasis" "Progressive familial intrahepatic cholestasis (PFIC) refers to a heterogeneous group of autosomal recessive disorders of childhood that disrupt bile formation and present with cholestasis of hepatocellular origin." "" + "C syndrome" "C syndrome is a rare multiple congenital anomaly/intellectual disability syndrome characterized by trigonocephaly and metopic suture synostosis, dysmorphic facial features, short neck, skeletal anomalies, and variable intellectual disability." "" + "cataract-hypertrichosis-intellectual disability syndrome" "Cataract-hypertrichosis-intellectual disability syndrome is characterized by congenital cataract, generalized hypertrichosis and intellectual deficit. It has been described in two Egyptian sibs born to consanguineous parents. It is transmitted as an autosomal recessive trait." "" + "hereditary arterial and articular multiple calcification syndrome" "Hereditary arterial and articular multiple calcification syndrome is a very rare genetic vascular disease of autosomal recessive inheritance, described in less than 20 patients to date, characterized by adult-onset (as early as the second decade of life) isolated calcification of the arteries of the lower extremities (including the iliac, femoral, and tibial arteries) as well as the capsule joints of the fingers, wrists, ankles and feet, and that usually manifests with mild paresthesias of the lower extremities, intense joint pain and swelling, and early onset arthritis of affected joints." "" + "campomelia, Cumming type" "Campomelia, Cumming type, is characterized by the association of limb defects and multivisceral anomalies." "" + "obsolete tumoral calcinosis, hyperphosphatemic, familial, 1" "" "true" + "camptodactyly syndrome, Guadalajara type 1" "Camptodactyly syndrome, Guadalajara type 1 is a rare syndrome consisting of growth retardation, facial dysmorphism, camptodactyly and skeletal anomalies." "" + "camptodactyly syndrome, Guadalajara type 2" "Camptodactyly syndrome, Guadalajara type 2 is an extremely rare multiple congenital anomaly syndrome characterized by distinctive intrauterine growth retardation, skeletal dysplasia with multiple malformations including camptodactyly of all fingers, bilateral hallux valgus, short second, fourth and fifth toes, hypoplastic patella, microcephaly, low-set ears, short neck, cuboid-shaped vertebral bodies, pectus excavatum, hip dislocation, and hypoplastic pubic region and genitalia. Camptodactyly syndrome, Guadalajara type 2 has been described in two sisters and is most likely transmitted in an autosomal recessive manner. There have been no further descriptions in the literature since 1985." "" + "camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia" "Camptodactyly - fibrous tissue hyperplasia - skeletal dysplasia syndrome is an extremely rare chondrodysplastic malformation syndrome that is characterized by the combination of arachnodactyly, becoming evident at around the age of 10, camptodactyly (hammertoes) and scoliosis. A mild facial dysmorphism including a broad nose and flaring nostrils, and a mild intellectual disability were also noted. Camptodactyly - fibrous tissue hyperplasia - skeletal dysplasia syndrome has been described once in 3 siblings and is suspected to follow autosomal recessive transmission. There have been no further descriptions in the literature since 1972." "" + "Tel Hashomer camptodactyly syndrome" "Tel Hashomer camptodactyly syndrome is a rare syndrome characterized by camptodactyly, muscle hypoplasia and weakness, skeletal anomalies, facial dysmorphism and abnormal dermatoglyphics." "" + "camptodactyly-ichthyosis syndrome" "" + "camptomelic syndrome, long-limb type" "" + "predisposition to invasive fungal disease due to CARD9 deficiency" "" + "obsolete carbimazole sensitivity" "" "true" + "PMM2-CDG" "PMM2-CDG is the most frequent form of congenital disorder of N-glycosylation and is characterized by cerebellar dysfunction, abnormal fat distribution, inverted nipples, strabismus and hypotonia. 3 forms of PMM2-CDG can be distinguished: the infantile multisystem type, late-infantile and childhood ataxia-intellectual disability type (3-10 yrs old), and the adult stable disability type. Infants usually develop ataxia, psychomotor delay and extraneurological manifestations including failure to thrive, enteropathy, hepatic dysfunction, coagulation abnormalities and cardiac and renal involvement. The phenotype is however highly variable and ranges from infants who die in the first year of life to mildly involved adults." "" + "disorder of protein N-glycosylation" "A disease that has its basis in the disruption of protein N-linked glycosylation." "" + "congenital disorder of glycosylation with hepatic involvement" "True" + "MGAT2-CDG" "MGAT2-CDG is a form of congenital disorders of N-linked glycosylation characterized by facial dysmorphism (large, posteriorly rotated ears with prominent antihelices, convex nasal ridge, open mouth, large and crowded teeth), stereotypic hand movements, seizures, and varying degrees of developmental delay. A bleeding tendency is also observed and this results from diminished platelet aggregation. The disease is caused by loss-of-function mutations in the gene MGAT2 (14q21)." "" + "congenital disorder of glycosylation, type i/IIx" "" + "carboxypeptidase N deficiency" "An autosomal recessive condition caused by mutation(s) in the CPN1 gene, encoding carboxypeptidase N catalytic chain. It may be characterized by episodic angioedema, chronic urticaria, asthma and/or allergic hypersensitivity." "" + "cardiac lipidosis, familial" "" + "histiocytoid cardiomyopathy" "Histiocytoid cardiomyopathy is an arrhythmogenic disorder characterised by cardiomegaly, severe cardiac arrhythmias or sudden death, and the presence of histiocyte-like cells within the myocardium." "" + "cardiac septal defects with coarctation of the aorta" "" + "cardiac valvular defect, developmental" "" + "cardioauditory syndrome of Sanchez Cascos" "" + "dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome" "A syndrome is characterized by the association of dilated cardiomyopathy and hypergonadotropic hypogonadism (DCM-HH)." "" + "cardiomyopathy associated with myopathy and sudden death" "" + "heart defects-limb shortening syndrome" "Heart defects limb shortening is an association disorder combining congenital heart malformation and skeletal dysplasia (including coronal clefting of the vertebral bodies and short limbs). It has been described only once in the literature, in two male sibs from Kuwaiti first-cousins. The clinical and radiological features of these patients were reported as a distinct cardioskeletal syndrome." "" + "carnitine-acylcarnitine translocase deficiency" "Carnitine-acylcarnitine translocase (CACT) deficiency is a life-threatening, inherited disorder of fatty acid oxidation which usually presents in the neonatal period with severe hypoketotic hypoglycemia, hyperammonemia, cardiomyopathy and/or arrhythmia, hepatic dysfunction, skeletal muscle weakness, and encephalopathy." "" + "fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy" "True" + "disorder of carnitine cycle and carnitine transport" "" + "systemic primary carnitine deficiency disease" "Systemic primary carnitine deficiency (SPCD) is a potentially lethal disorder of fatty acid oxidation characterized classically by early childhood onset cardiomyopathy often with weakness and hypotonia, failure to thrive and recurrent hypoglycemic hypoketotic seizures and/or coma." "" + "disorder of fatty acid oxidation and ketogenesis" "" + "carnitine deficiency, myopathic" "" + "carnosinemia" "Carnosinemia is a very rare inherited disorder that presents with serum carnosinase deficiency." "" + "homocarnosinosis" "Homocarnosinosis is a metabolic defect characterised by progressive spastic diplegia, intellectual deficit and retinitis pigmentosa. This extremely rare disorder has been reported in only one family, namely a woman and three of her children. The latter showed progressive spastic diplegia, mental retardation and retinitis pigmentosa but their mother was symptom free. It is therefore uncertain whether there is a relationship between the biochemical defect and the clinical symptoms. Inheritance in the reported family seems to be autosomal dominant." "" + "Sengers syndrome" "Congenital cataract - hypertrophic cardiomyopathy - mitochrondrial myopathy (CCM) is a mitochondrial disease characterized by cataracts, hypertrophic cardiomyopathy, muscle weakness and lactic acidosis after exercise." "" + "mitochondrial substrate carrier disorder" "" + "disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement" "True" + "mitochondrial DNA depletion syndrome" "The mitochondrial DNA (mtDNA) depletion syndrome (MDS) is a clinically heterogeneous group of mitochondrial disorders characterized by a reduction of the mtDNA copy number in affected tissues without mutations or rearrangements in the mtDNA. MDS is phenotypically heterogeneous, and can affect a specific organ or a combination of organs, with the main presentations described being either hepatocerebral (i.e. hepatic dysfunction, psychomotor delay), myopathic (i.e. hypotonia, muscle weakness, bulbar weakness), encephalomyopathic (i.e. hypotonia, muscle weakness, psychomotor delay) or neurogastrointestinal (i.e gastrointestinal dysmotility, peripheral neuropathy). Additional phenotypes include fatal infantile lactic acidosis with methylmalonic aciduria, spastic ataxia (early-onset spastic ataxia-neuropathy syndrome), and Alpers syndrome." "" + "cardiac disease with cataract" "True" + "autosomal recessive palmoplantar keratoderma and congenital alopecia" "Autosomal recessive palmoplantar hyperkeratosis and congenital alopecia (PPK-CA) is a rare genetic skin disorder characterized by congenital alopecia and palmoplantar hyperkeratosis. It is usually associated with cataracts, progressive sclerodactyly and pseudo-ainhum." "" + "congenital cataract-ichthyosis syndrome" "Congenital cataract-ichthyosis syndrome is characterized by congenital cataract associated with ichthyosis. It has been described in less than ten patients from two unrelated families. Transmission is autosomal recessive." "" + "dentocutaneous disease with cataract" "True" + "cataract 46 juvenile-onset" "Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the LEMD2 gene." "" + "COFS syndrome" "Cerebrooculofacioskeletal (COFS) syndrome is a rare genetic disorder, belonging to a family of diseases of DNA repair, characterized by a severe sensorineural involvement." "" + "Cockayne syndrome" "Cockayne syndrome (CS) is a multisystem condition characterized by short stature, a characteristic facial appearance, premature aging, photosensitivity, progressive neurological dysfunction, and intellectual deficit." "" + "colobomatous optic disc-macular atrophy-chorioretinopathy syndrome" "" + "cataract-ataxia-deafness syndrome" "Cataract-ataxia-deafness syndrome is characterised by mild intellectual deficit, congenital cataract, progressive sensorineural deafness and ataxia. It has been described in two sisters. The inheritance is likely to be autosomal recessive." "" + "obsolete cataract-intellectual disability-hypogonadism syndrome" "" "true" + "celiac disease, susceptibility to, 1" "" + "Cenani-Lenz syndactyly syndrome" "Cenani-Lenz syndrome (CLS) is a congenital malformation syndrome that associates a complex syndactyly of the hands with malformations of the forearm bones and similar manifestations in the lower limbs." "" + "premature centromere division" "" + "cephalin lipidosis" "" + "cerebellar ataxia-ectodermal dysplasia syndrome" "Cereballar ataxia - ectodermal dysplasia is a very rare disease, characterized by hypodontia and sparse hair in combination with cerebellar ataxia and normal intelligence. Imaging demonstrates a cerebellar atrophy." "" + "cerebellar ataxia-hypogonadism syndrome" "Cerebellar ataxia-hypogonadism syndrome is a very rare autosomal recessive neurodegenerative disorder characterized by the combination of progressive cerebellar ataxia with onset from early childhood to the fourth decade, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Cerebellar ataxia-hypogonadism syndrome belongs to a clinical continuum of neurodegenerative disorders along with clinically overlapping disorders such as ataxia-hypogonadism-choroidal dystrophy syndrome." "" + "cerebellar ataxia and neurosensory deafness" "" + "cerebellar ataxia, benign, with thermoanalgesia" "" + "early-onset cerebellar ataxia with retained tendon reflexes" "Early onset cerebellar ataxia with retained reflexes (EOCARR) or Harding ataxia is a cerebellar ataxia characterized by the progressive association of a cerebellar and pyramidal syndrome with progressive cerebellar ataxia, brisk tendon reflexes, and sometimes profound sensory loss." "" + "autosomal recessive degenerative and progressive cerebellar ataxia" "" + "isolated cerebellar hypoplasia/agenesis" "Hypoplasia of the cerebellum that is associated with inherited metabolic disorders and neurodegenerative disorders. Signs and symptoms include mental and developmental delays, walking and balance difficulties, floppy muscle tone, and seizures." "" + "global cerebellar malformation" "" + "endosteal sclerosis-cerebellar hypoplasia syndrome" "Endosteal sclerosis-cerebellar hypoplasia syndrome is characterized by congenital cerebellar hypoplasia, endosteal sclerosis, hypotonia, ataxia, mild to moderate developmental delay, short stature, hip dislocation, and tooth eruption disturbances. It has been described in four patients. Less common manifestations are microcephaly, strabismus, nystagmus, optic atrophy, and dysarthria. It is appears to be transmitted as an autosomal recessive trait." "" + "syndrome with a cerebellar malformation as major feature" "True" + "hepatic fibrosis-renal cysts-intellectual disability syndrome" "Hepatic fibrosis-renal cysts-intellectual disability syndrome is a rare, syndromic intellectual disability characterized by early developmental delay with failure to thrive, intellectual disability, congenital hepatic fibrosis, renal cystic dysplasia, and dysmorphic facial features (bilateral ptosis, anteverted nostrils, high arched palate, and micrognathia). Variable additional features have been reported, including cerebellar anomalies, postaxial polydactyly, syndactyly, genital anomalies, tachypnea. There have been no further descriptions in the literature since 1987." "" + "cerebelloparenchymal disorder II" "" + "autosomal recessive spinocerebellar ataxia 2" "The disorders involving primarily the cerebellar parenchyma have been classified into six forms. In cerebelloparenchymal disorder III, cerebellar ataxia is congenital (non-progressive) and characterized by cerebellar symptoms such as incoordination of gait often associated with poor coordination of hands, speech and eye movements. The other features are congenital mental retardation and hypotonia, in addition to other neurological and non-neurological features. MRI or CT scan show marked atrophy of the vermis and hemispheres. A severe loss of granule cells with heterotopic Purkinje cells is observed. The mode of inheritance in the few reported families is autosomal recessive. In one family, cerebellar ataxia was associated to albinism.: In a large inbred Lebanese family the disease locus was assigned to a 12.1-cM interval on chromosome 9q34-qter between markers D9S67 and D9S312. The primary biochemical defect remains unknown. Up to now, the only treatment has consisted in early interventional therapies including intensive speech therapy and adequate stimulation and/or training." "" + "autosomal recessive congenital cerebellar ataxia" "" + "Joubert syndrome 1" "Any Joubert syndrome in which the cause of the disease is a mutation in the INPP5E gene." "" + "Joubert syndrome" "Joubert syndrome (JS) is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones." "" + "cerebral angiopathy, dysphoric" "" + "cerebrotendinous xanthomatosis" "Cerebrotendinous xanthomatosis (CTX) is an anomaly of bile acid synthesis characterized by neonatal cholestasis, childhood-onset cataract, adolescent to young adult-onset tendon xanthomata, and brain xanthomata with adult-onset neurologic dysfunction." "" + "sterol metabolism disorder with epilepsy" "True" + "inborn disorder of bile acid synthesis" "Anomalies of bile acid synthesis are a group of sterol metabolism disorders due to enzyme deficiencies of bile acid synthesis (BAS) in infants, children and adults, with variable manifestations that include cholestasis, neurological disease, and fat malabsorption. Nine inborn errors have been described, 7 of which lead to liver cholestasis." "" + "cerebral lipidosis with dementia" "" + "metabolic disease with cataract" "True" + "cholesterol catabolic process disease" "A disease that has its basis in the disruption of cholesterol catabolic process." "" + "cerebral malformation, seizures, hypertrichosis, and overlapping fingers" "" + "cerebral sclerosis similar to Pelizaeus-Merzbacher disease" "" + "Pelizaeus-Merzbacher disease" "Pelizaeus-Merzbacher disease (PMD) is an X-linked leukodystrophy characterized by developmental delay, nystagmus, hypotonia, spasticity, and variable intellectual deficit. It is classified into three sub-forms based on the age of onset and severity: connatal, transitional, and classic PMD." "" + "cerebrocortical degeneration of infancy" "" + "cerebrofaciothoracic dysplasia" "Cerebro-facio-thoracic dysplasia or Pascual-Castroviejo syndrome type 1 is a rare syndrome characterized by facial dysmorphism, intellectual deficit and costovertebral abnormalities." "" + "peroxisome biogenesis disorder 1A (Zellweger)" "" + "peroxisome biogenesis disorder due to PEX1 defect" "Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX1 gene." "" + "classic presentation" "A severe form of a genetic disease." "" + "peroxisome biogenesis disorder 2A (Zellweger)" "" + "cerebrooculofacioskeletal syndrome 1" "Any COFS syndrome in which the cause of the disease is a mutation in the ERCC6 gene." "" + "obsolete congenital neuronal ceroid lipofuscinosis" "" "true" + "cervical vertebrae, agenesis of" "" + "Klippel-Feil syndrome 2, autosomal recessive" "Any isolated Klippel-Feil syndrome in which the cause of the disease is a mutation in the MEOX1 gene." "" + "CHAND syndrome" "" + "Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome" "A rare demyelinating hereditary motor and sensory neuropathy characterized by early-onset, slowly progressive, distal muscular weakness and atrophy with no sensory impairment, congenital sensorineural deafness and mild intellectual disability (with absence of normal speech development). The absence of large myelinated fibers on sural nerve biopsy is equally characteristic of the disease." "" + "Charcot-Marie-Tooth disease type 4A" "Charcot-Marie-Tooth disease type 4A (CMT4A) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by early-onset (infancy to early childhood) of severe, rapidly progressing demyelinating, axonal, or intermediate sensorimotor neuropathy usually affecting first, and more severely, the distal lower extremities and later the proximal muscles and upper extremities. Nerve conduction velocities range from very slow to normal. Apart from the typical CMT phenotype (distal muscle weakness and atrophy, sensory loss, frequent pes cavus foot deformity), patients commonly present delayed motor development, vocal cord paresis, mild sensory loss, abolished deep tendon reflexes, and skeletal deformities." "" + "Charcot-Marie-Tooth disease type 4" "Charcot-Marie-Tooth disease type 4 (CMT4) belongs to the genetically heterogeneous group of CMT peripheral sensorimotor polyneuropathy diseases." "" + "Charcot-Marie-Tooth disease recessive intermediate A" "Autosomal recessive intermediate Charcot-Marie-Tooth disease type A is a subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease characterized by severe, early childhood-onset CMT neuropathy with prominent pes equinovarus deformity and impairment of hand muscles. Nerve conduction velocities usually range between 25-35 m/s and both axonal and demyelinating changes are observed on peripheral nerve pathology." "" + "Griscelli syndrome type 1" "A Griscelli syndrome characterized by silvery gray sheen of the hair, hypopigmentation of the skin and neurological impairment without immunodeficiency that has material basis in mutations in the MYO5A gene on chromosome 15q21.2." "" + "Griscelli syndrome" "Griscelli syndrome (GS) is characterised by silvery gray sheen of the hair and hypopigmentation of the skin which can be associated to neurological impairment (type 1), immunodeficiency (type 2) or be isolated (type 3)." "" + "Chediak-Higashi syndrome" "ChC)diak-Higashi syndrome (CHS) is a rare severe genetic disorder generally characterized by partial oculocutaneous albinism (OCA), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. A classic, early-onset form and an attenuated, later-onset form (Atypical CHS) have been described." "" + "syndromic oculocutaneous albinism" "A oculocutaneous albinism that is part of a larger syndrome." "" + "disorder of lysosomal-related organelles" "" + "immunodeficiency syndrome with abnormal pigmentation" "True" + "dense granule disease" "" + "congenital secretory chloride diarrhea 1" "Any secretory diarrhea in which the cause of the disease is a mutation in the SLC26A3 gene." "" + "congenital intestinal transport defect" "" + "congenital secretory diarrhea" "" + "CHARGE syndrome" "CHARGE syndrome is a multiple congenital anomaly syndrome characterized by the variable combination of multiple anomalies, mainly Coloboma; Choanal atresia/stenosis; Cranial nerve dysfunction; Characteristic ear anomalies (known as the major 4 C's)." "" + "immunodeficiency due to absence of thymus" "True" + "lens shape anomaly" "" + "Aagenaes syndrome" "Cholestasis-lymphedema syndrome is a rare genetic disorder characterized by neonatal intrahepatic cholestasis, often lessening and becoming intermittent with age, and severe chronic lymphedema which mainly affects the lower limbs. Patients often present with fat malabsorption leading to failure to thrive, fat soluble vitamin deficiency with bleeding, rickets, and neuropathy. In 25% of cases, cirrhosis occurs during childhood or later in life." "" + "congenital bile acid synthesis defect 4" "An anomaly of bile acid synthesis characterized by mild cholestatic liver disease, fat malabsorption and/or neurological disease." "" + "alpha-methylacyl-CoA racemase deficiency" "A rare disorder caused by mutation in the AMACR gene. Racemization is the prerequisite to beta-oxidation for branched chain fatty acids and bile acids. It is characterized by neurological abnormalities that appear in adulthood and include cognitive decline, seizures, and sensorimotor neuropathy. AMACR deficiency rarely presents as liver disease in infancy." "" + "congenital bile acid synthesis defect" "" + "obsolete disorder of peroxisomal alpha-, beta- and omega-oxidation" "" "true" + "cholestasis with gallstone, ataxia, and visual disturbance" "" + "cholesterol pneumonia" "" + "chondrodysplasia Blomstrand type" "Blomstrand lethal chondrodysplasia (BLC) is a neonatal osteosclerotic dysplasia characterized by advanced endochondral bone maturation, very short limbs, dwarfism and prenatal lethality." "" + "chondrodysplasia calcificans Metaphysealis" "" + "rhizomelic chondrodysplasia punctata type 1" "A condition that impairs the normal development of many parts of the body. The major features of this disorder include skeletal abnormalities, distinctive facial features, intellectual disability, and respiratory problems. The condition is caused by mutations in the PEX7 gene. It is inherited in an autosomal recessive pattern. Rhizomelic chondrodysplasia punctata type 1 is one of five types of rhizomelic chondrodysplasia punctata. The types have similar features and are distinguished by their genetic cause." "" + "rhizomelic chondrodysplasia punctata" "Rhizomelic chondrodysplasia is a form chondrodysplasia punctata, a group of diseases in which the common characteristic is calcifications near joints at birth." "" + "peroxisome biogenesis disorder due to PEX7 defect" "Any peroxisome biogenesis disorder in which the cause of the disease is a mutation in the PEX7 gene." "" + "chondrodysplasia punctata, Toriello type" "Chondrodysplasia punctata, Toriello type is a rare, non-rhizomelic, primary bone dysplasia syndrome characterized by calcific stippling of epiphyses in association with minor facial abnormalities, short stature and ocular colobomata. In addition, patients present chondrodysplasia punctata, brachycephaly, flat facial profile with small nose, flat lower eyelids and low-set ears, developmental delay, brachytelephalangy and deep palmar creases. Complex congenital cardiac disease and central nervous system anomalies (including partial absence of corpus callosum, small vermis, enlargement of the cisterna magna and/or of the anterior horns of the lateral ventricles) have been reported." "" + "Greenberg dysplasia" "A very rare lethal skeletal dysplasia characterized by fetal hydrops, short limbs and abnormal chondro-osseous calcification. The disease is characterized by early in utero lethality and affected fetuses are considered as nonviable." "" + "sterol biosynthesis disorder" "An acquired metabolic disease that is has its basis in the disruption of sterol biosynthetic process." "" + "chondroitin-6-sulfaturia, defective cellular immunity, nephrotic syndrome" "" + "chorea, benign familial" "Benign hereditary chorea (BHC) is a rare movement disorder that beginsin infancy or childhood. Signs and symptoms in infants may include low muscle tone, involuntary movements (chorea), lung infections, and respiratory distress. Signs and symptoms in children may include delayed motor and walking milestones, jerky muscle movements (myoclonus), upper limb dystonia, motor tics, and vocal tics. The chorea often improves with time. In some cases, myoclonus persists or worsens. Children with BHC can havenormal intellect, but may have learning and behavior problems. Other signs and symptoms include thyroid problems (e.g., hypothyroidism) and lung disease (e.g., recurring infections). Treatment is tailored to each child. Tetrabenazine and levodopa have been tried in individual cases with some success. BHC is caused by mutations in the NKX2-1 gene (also known as the TITF1 gene). It is passed through families in an autosomal dominant fashion." "" + "ataxia-hypogonadism-choroidal dystrophy syndrome" "Ataxia-hypogonadism-choroidal dystrophy syndrome is a very rare autosomal recessive, slowly progressive neurodegenerative disorder characterized by the triad of cerebellar ataxia (that generally manifests at adolescence or early adulthood), chorioretinal dystrophy, which may have a later onset (up to the fifth-sixth decade) leading to variable degrees of visual impairment, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Ataxia-hypogonadism-choroidal dystrophy syndrome belongs to a clinical continuum of neurodegenerative disorders along with the clinically overlapping cerebellar ataxia-hypogonadism syndrome." "" + "infantile choroidocerebral calcification syndrome" "This syndrome is characterized by intellectual deficit, calcification of the choroid plexus, and elevated levels of cerebrospinal fluid (CSF) protein. It has been described in two sibships from two unrelated families. The seven children of one of the sibships were born to consanguineous parents. Some patients also had strabismus, hyperactive deep tendon reflexes and foot deformities." "" + "chromosomal instability with tissue-specific radiosensitivity" "" + "ciliary discoordination due to random ciliary orientation" "" + "primary ciliary dyskinesia" "A rare, genetically heterogeneous, primarily respiratory disorder characterized by chronic upper and lower respiratory tract disease. Approximately half of PCD patients have an organ laterality defect (situs inversus totalis or situs ambiguus/heterotaxy)." "" + "ciliary dyskinesia with transposition of ciliary microtubules" "" + "circumvallate placenta syndrome" "" + "obsolete cirrhosis, familial" "" "true" + "citrullinemia type I" "Citrullinemia type I is a rare autosomal recessive urea cycle defect characterized biologically by hyperammonemia and clinically by progressive lethargy, poor feeding and vomiting in the neonatal form (Acute neonatal citrullinemia type I) and by variable hyperammonemia in the later-onset form (adult-onset citrullinemia type I)." "" + "citrullinemia" "Citrullinemia is an autosomal recessively inherited disorder of urea cycle metabolism and ammonia detoxification characterized by elevated concentrations of serum citrulline and ammonia. The disease presents with a large range of manifestations including neonatal hyperammonemic encephalopathy with lethargy, seizures and coma; hepatic dysfunction in all age groups; episodes of hyperammonemia and neuropsychiatric symptoms in children or adults, or, can be asymptomatic in some cases (detected in newborn screening programs). Citrullinemia is divided into two main groups that are encoded by different genes: citrullinemia type I (comprised of acute neonatal citrullinemia type I and adult-onset citrullinemia type I) and citrin deficiency (comprised of adult-onset citrullinemia type II and neonatal intrahepatic cholestasis due to citrin deficiency)." "" + "citrulline transport defect" "" + "cleft larynx, posterior" "" + "laryngotracheoesophageal cleft" "A laryngo-tracheo-esophageal cleft (LC) is a congenital malformation characterized by an abnormal, posterior, sagittal communication between the larynx and the pharynx, possibly extending downward between the trachea and the esophagus." "" + "Verloove Vanhorick-Brubakk syndrome" "Verloove Vanhorick-Brubakk syndrome is a multiple congenital anomalies/dysmorphic syndrome characterized by multiple skeletal malformations (short femora and humeri, bilateral absence of metatarsal and metacarpal bone in hands and feet, bilateral partial syndactyly of fingers and toes or oligopolysyndactyly, deformed lumbosacral spine), congenital heart disease (truncus arteriosus), lung and urogenital malformations (bilateral bilobar lungs, horseshoe kidney, cryptorchidism), and facial malformations (bilateral cleft lip and palate, micrognathia, small, low-set ears without external meatus). It is lethal in the neonatal period. There have been no further descriptions in the literature since 1981." "" + "Juberg-Hayward syndrome" "Juberg-Hayward syndrome is a polymalformative syndrome that associates multiple skeletal anomalies with microcephaly, facial dysmorphism, urogenital anomalies and intellectual deficit." "" + "cleft palate-stapes fixation-oligodontia syndrome" "Cleft palate - stapes fixation - oligodontia is characterized by cleft soft palate, severe oligodontia of the deciduous teeth, absence of the permanent dentition, bilateral conductive deafness due to fixation of the footplate of the stapes, short halluces with a wide space between the first and second toes, and fusion of carpal and tarsal bones. It has been described in two sisters of Swedish extraction. An autosomal recessive mode of inheritance is likely. There have been no further descriptions in the literature since 1971." "" + "cleidocranial dysplasia, recessive form" "" + "Yunis-Varon syndrome" "Yunis-Varon syndrome is a rare condition that affects many different parts of the body. Signs and symptoms are generally present from birth and may include underdeveloped or absent collarbones (clavicles); large fontanelles; characteristic facial features; hypotonia (reduced muscle tone) and/or abnormalities of the fingers and toes. Affected people may also experience feeding difficulties, breathing problems, brain malformations, heart defects, skeletal abnormalities, developmental delay, and/or intellectual disability. Yunis-Varon syndrome is caused by changes (mutations) in the FIG4 gene and isinherited in an autosomal recessive manner. Treatment is based on the signs and symptoms present in each person." "" + "COACH syndrome 1" "A very rare subtype of Joubert syndrome and related disorders (JSRD) characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF)." "" + "COACH syndrome" "A Mendelian disease characterized by infantile ataxia with hypo/aplastic vermis, hepatic fibrocirrhosis, slender-shaped skeleton, peculiar face, and moderate intellectual disability." "" + "Joubert syndrome and related disorders" "Joubert syndrome (JS) and related disorders (JSRD) are a group of developmental delay/multiple congenital anomaly syndromes in which the mandatory feature is the \"molar tooth sign'' (MTS), a complex midbrain-hindbrain malformation recognizable on brain imaging. The MTS is characterized by cerebellar vermis hypodysplasia, thickening and malorientation of the superior cerebellar peduncles and abnormally deep interpeduncular fossa." "" + "obsolete Cockayne syndrome A" "" "true" + "Cockayne syndrome type 3" "Cockayne syndrome type III, also known as the mild form of Cockayne syndrome, is a rare genetic disorder that causes early (premature) aging. Unlike the more severe forms of this condition, individuals with Cockayne syndrome type III can have normal growth and development. Symptoms may include sunlight sensitivity (photosensitivity), hearing loss, eye and bone abnormalities, and changes to the brain that can be seen on imaging (brain MRIs). In general, symptoms of Cockayne syndrome type III are usually not noticeable until later in childhood." "" + "Cohen syndrome" "Cohen syndrome (CS) is a rare genetic developmental disorder characterized by microcephaly, characteristic facial features, hypotonia, non-progressive intellectual deficit, myopia and retinal dystrophy, neutropenia and truncal obesity." "" + "familial reactive perforating collagenosis" "Familial reactive perforating collagenosis is a very rare genetic skin disease characterized by transepidermal elimination of collagen fibers presenting as recurrent spontaneously involuting keratotic papules or nodules." "" + "macular coloboma-cleft palate-hallux valgus syndrome" "Macular coloboma-cleft palate-hallux valgus syndrome is characterised by the association of bilateral macular coloboma, cleft palate, and hallux valgus. It has been described in a brother and sister. Pelvic, limb and digital anomalies were also reported. Transmission is autosomal recessive." "" + "coloboma, ocular, autosomal recessive" "" + "achromatopsia 2" "Achromatopsia 2 is a condition that affects the color vision. Most people have complete achromatopsia which is characterized by a total absence of color vision (only able to see black, white and shades of gray). Rarely, affected people may have incomplete achromatopsia which is associated with some color discrimination. Other common signs and symptoms include reduced visual acuity, involuntary back-and-forth eye movements, increased sensitivity to light (photophobia), and hyperopia (farsightedness). Achromatopsia 2 is caused by changes (mutations) in the CNGA3 gene and is inherited in an autosomal recessive manner. Although color discrimination cannot be improved, treatments are available to address some of the other associated symptoms." "" + "achromatopsia" "Achromatopsia (ACHM) is a rare autosomal recessive retinal disorder characterized by color blindness, nystagmus, photophobia, and severely reduced visual acuity due to the absence or impairment of cone function." "" + "obsolete combined inflammatory and immunologic defect" "" "true" + "complement component C1r/C1s deficiency" "Lack of production of either functional C1r or C1s protein, due to a genetic defect. Approximately 60% of patients with a C1r/C1s deficiency will develop a severe systemic lupus erythematosus at an early age. Patients also present with frequent sinopulmonary infections often with Streptococcus pneumoniae." "" + "immunodeficiency due to a classical component pathway complement deficiency" "" + "complement component 2 deficiency" "Complement component 2 deficiency (C2D) is a genetic condition that affects the immune system. Signs and symptoms include recurrent bacterial infections and risk for a variety of autoimmune conditions. Infections can be very serious and are common in early life. They become less frequent during the teen and adult years. The most frequent autoimmune conditions associated with C2D are lupus (10-20%) and vasculitis. C2D is caused by mutations in the C2 gene and is inherited in an autosomal recessive fashion." "" + "Jalili syndrome" "Jalili syndrome is characterized by the association of amelogenesis imperfecta (AI) and cone-rod retinal dystrophy (CORD)." "" + "heart defect - tongue hamartoma - polysyndactyly syndrome" "" + "hypoplasminogenemia" "Severe hypoplasminogenemia (HPG) or type 1 plasminogen (plg) deficiency is a systemic disease characterised by markedly impaired extracellular fibrinolysis leading to the formation of ligneous (fibrin-rich) pseudomembranes on mucosae during wound healing." "" + "aortic arch interruption" "Aortic arch interruption is a rare heart defect characterized by complete lack of anatomical continuity between the transverse aortic arch and the descending thoracic aorta. AAI should be distinguished anatomically from atresia of the aortic arch where continuity between these segments is achieved by an imperforate fibrous strand of various lengths." "" + "constriction rings syndrome" "Constriction rings syndrome is a congenital limb malformation disorder with an extremely variable clinical presentation characterized by the presence of partial to complete, congenital, fibrous, circumferential, constriction bands/rings on any part of the body, although a particular predilection for the upper or lower extremities is seen. Phenotypes range from only a mild skin indentation to complete amputation of parts of the fetus (e.g. digits, distal limb). Compression from the rings may lead to edema, skeletal anomalies (e.g. fractures, foot deformities) and, infrequently, neural compromise." "" + "amniotic band syndrome" "Amniotic band syndrome (ABS) describes a group of sporadic congenital anomalies, that occur in association with amniotic bands, involving the limbs, craniofacial regions, spine and trunk with a highly variable clinical spectrum ranging from simple digital band constriction (or amputation) to complex craniofacial, central nervous system and visceral anomalies." "" + "multiple pterygium-malignant hyperthermia syndrome" "Malignant hyperthermia-arthrogryposis-torticollisis an extremely rare arthrogryposis syndrome, described in only two pairs of siblings from two unrelated families to date, and characterized by the association of arthrogryposis, congenital torticollis, dysmorphic facial features (i.e. asymmetry of the face, myopathic facial movements, ptosis, posteriorly rotated ears, cleft palate), progressive scoliosis and episodes of malignant hyperthermia. There have been no further descriptions in the literature since 1988." "" + "convulsive disorder, familial, with prenatal or early onset" "" + "cornea plana 2" "Any cornea plana in which the cause of the disease is a mutation in the KERA gene." "" + "corneal dystrophy-perceptive deafness syndrome" "Corneal dystrophy-perceptive deafness (CDPD) or Harboyan syndrome is a degenerative corneal disorder characterized by the association of congenital hereditary endothelial dystrophy (CHED) with progressive, postlingual sensorineural hearing loss." "" + "band keratopathy" "The deposition of calcium on the cornea, resulting in pain and decreased visual acuity." "" + "corneal degeneration, band-shaped spheroid" "" + "central cloudy dystrophy of François" "Central cloudy dystrophy of François is a very rare form of stromal corneal dystrophy characterized by polygonal or rounded stromal opacities surrounded by clear tissue, and generally no effect on vision." "" + "congenital hereditary endothelial dystrophy of cornea" "A rare subtype of posterior corneal dystrophy characterized by a diffuse ground-glass appearance of the corneas and marked corneal thickening from birth with nystagmus, and blurred vision." "" + "macular corneal dystrophy" "Macular corneal dystrophy (MCD) is a rare, severe form of stromal corneal dystrophy characterized by bilateral ill-defined cloudy regions within a hazy stroma, and eventually severe visual impairment." "" + "Toriello-Carey syndrome" "Toriello Carey syndrome is a multiple congenital anomaly syndrome characterized by craniofacial dysmorphic features, cerebral anomalies, swallowing difficulties, cardiac defects and hypotonia." "" + "corpus callosum, agenesis of" "A congenital abnormality characterized by the complete absence of the corpus callosum. It may be an isolated abnormality or associated with other central nervous system abnormalities or syndromes. Clinical manifestations vary. In cases of isolated corpus callosum agenesis, symptoms may be absent or minimal. In cases that are associated with other central nervous system abnormalities or syndromes, symptoms include developmental delays, motor coordination difficulties, and vision impairment." "" + "obsolete hereditary motor and sensory neuropathy with agenesis of the corpus callosum" "" "true" + "cortical blindness-intellectual disability-polydactyly syndrome" "This syndrome is characterised by cortical blindness, intellectual deficit, and polydactyly." "" + "apparent mineralocorticoid excess" "Apparent mineralocorticoid excess (AME) is a rare form of pseudohyperaldosteronism characterized by very early-onset and severe hypertension, associated with low renin levels and hypoaldosteronism." "" + "Costello syndrome" "Costello syndrome (CS) is a rare multisystemic disorder characterized by failure to thrive, short stature, developmental delay or intellectual disability, joint laxity, soft skin, and distinctive facial features. Cardiac and neurological involvement is common and there is an increased lifetime risk of certain tumors." "" + "cramps, familial adolescent" "" + "Crane-Heise syndrome" "Crane-Heise syndrome is a very rare syndrome characterized by poorly mineralized calvarium, facial dysmorphism, vertebral abnormalities and absent clavicles." "" + "cranial nerves, congenital paresis of" "" + "cranial nerves, recurrent paresis of" "" + "craniodiaphyseal dysplasia" "Craniodiaphyseal dysplasia is a rare sclerotic bone disorder with a variable phenotypic expression with massive generalized hyperostosis and sclerosis, particularly of the skull and facial bones, that may lead to severe deformity." "" + "cranioectodermal dysplasia" "Cranioectodermal dysplasia (CED) is a rare developmental disorder characterized by congenital skeletal and ectodermal defects associated with dysmorphic features, nephronophthisis, hepatic fibrosis and ocular anomalies (mainly retinitis pigmentosa)." "" + "short rib-polydactyly syndrome" "Short rib-polydactyly syndromes are a group of bone malformations characterized by a narrow thorax and polydactyly (usually preaxial)." "" + "temtamy syndrome" "Temtamy syndrome is a very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities." "" + "craniofacial dyssynostosis" "Craniofacial dyssynostosis (CFD) is a rare cranial malformation syndrome characterized by the premature closure of both lambdoid sutures and the posterior sagittal suture, resulting in abnormal skull contour (frontal bossing, anterior turricephaly with mild brachycephaly, biparietal narrowing, occipital concavity) and dysmorphic facial features (low-set ears, midfacial hypoplasia). Short stature, developmental delay, epilepsy, and oculomotor dyspraxia have also been reported. Associated anomalies include enlargement of the cerebral ventricles, agenesis of the corpus callosum, Arnold-Chiari malformation type I, venous anomalies of skull and hydrocephalus." "" + "craniometaphyseal dysplasia, autosomal recessive" "Autosomal recessive form of craniometaphyseal dysplasia." "" + "cardiocranial syndrome, Pfeiffer type" "Pfeiffer-type cardiocranial syndrome is an extremely rare disorder recognized in less than ten patients worldwide and characterized by a congenital heart defect, sagittal craniosynostosis and severe developmental delay (growth retardation and intellectual deficit)." "" + "craniosynostosis with anomalies of the cranial base and digits" "" + "craniosynostosis-fibular aplasia syndrome" "Craniosynostosis-fibular aplasia is an extremely rare genetic disease, reported in only 2 brothers to date, characterized by the combination of craniosynostosis (involving both coronal sutures), congenital absence of the fibula, cryptorchidism, and bilateral simian creases. Intelligence is normal and an autosomal recessive mode of inheritance has been proposed. There have been no further reports in the literature since 1972." "" + "Baller-Gerold syndrome" "Baller-Gerold syndrome is characterized by the association of coronal craniosynostosis with radial ray anomalies (oligodactyly, aplasia or hypoplasia of the thumb, aplasia or hypoplasia of the radius)." "" + "craniosynostosis-intellectual disability syndrome of 51N and Gettig" "" + "craniosynostosis-intellectual disability-clefting syndrome" "A recessive syndrome characterized by craniosynostosis, mental retardation, seizures, choroidal coloboma, dysplastic kidneys, bat ears, cleft lip and palate, and beaked nose." "" + "craniotelencephalic dysplasia" "Craniotelencephalic dysplasia is an extremely rare, genetic developmental defect during embryogenesis syndrome characterized by craniosynostosis with frontal encephalocele and various additional brain anomalies (severe hydrocephalus, agenesis of the corpus callosum, lissencephaly and polymicrogyria, parenchymal cysts, septo-optic dysplasia) resulting in marked cerebral dysfunction, seizures and very severe psychomotor delay. There have been no further descriptions in the literature since 1983." "" + "lissencephaly spectrum disorders" "The term lissencephaly covers a group of rare malformations sharing the common feature of anomalies in the appearance of brain convolutions (characterised by simplification or absence of folding) associated with abnormal organisation of the cortical layers as a result of neuronal migration defects during embryogenesis." "" + "Crigler-Najjar syndrome" "Crigler-Najjar syndrome (CNS) is a hereditary disorder of bilirubin metabolism characterized by unconjugated hyperbilirubinemia due to a hepatic deficit of bilirubin glucuronosyltransferase (GT) activity. Two types have been described, CNS types 1 and 2. CNS1 is characterized by a complete deficit of the enzyme and is unaffected by phenobarbital induction therapy, whereas the enzymatic deficit is partial and responds to phenobarbital in CNS2." "" + "cataract-nephropathy-encephalopathy syndrome" "Cataract - nephropathy - encephalopathy syndrome describes a lethal combination of manifestations including short stature, congenital cataracts, encephalopathy with epileptic fits, and postmortem confirmation of nephropathy (renal tubular necrosis). The combination of cataract - nephropathy - encephalopathy has been described in 2 female infant children of first cousin parents. The infants did not survive beyond 4 and 8 months respectively. There have been no further descriptions in the literature since 1963." "" + "Fraser syndrome" "Fraser syndrome is a rare clinical entity including as main characteristics cryptophthalmos and syndactyly." "" + "cryptorchidism" "The failure of one or both testes of a male fetus to descend from the abdomen into the scrotum during the late part of pregnancy. If not surgically corrected in early childhood, males may be at increased risk for testicular cancer later in life." "" + "curved nail of fourth toe" "" + "Cushing syndrome due to macronodular adrenal hyperplasia" "ACTH-independent macronodular adrenal hyperplasia (AIMAH) is a rare cause of Cushing syndrome (CS) characterized by nodular enlargement of both adrenal glands (multiple nodules above 1 cm in diameter) that produce excess cortisol and features of adrenocorticotropic hormone (ACTH) independent CS." "" + "ACTH-independent Cushing syndrome" "Adrenocorticotropic hormone (ACTH) independent Cushing syndrome is a form of endogenous Cushing syndrome (CS) that may result from excess secretion of cortisol by either a unilateral and benign (adrenocortical adenoma: 55-60%) or malignant (adrenocortical carcinoma: 35-40 %) adrenocortical tumor or by bilateral adrenal secretion by macronodular adrenal hyperplasia (AIMAH), as an isolated disease or as part of McCune-Albright syndrome (MAS), or by primary pigmented nodular adrenocortical disease (PPNAD), as an isolated disease or as part of Carney complex (CNC)." "" + "Cushing disease due to pituitary adenoma" "Cushing's syndrome due to abnormally high secretion of adrenocorticotropic hormone (ACTH) from the pituitary gland." "" + "ACTH-dependent Cushing syndrome" "Adrenocorticotropic hormone dependent Cushing syndrome (ACTH-dependent CS) is a form of endogenous CS caused by abnormal production of ACTH due, in 80% of cases, to ACTH oversecretion by a pituitary adenoma (Cushing disease, CD) and in 20% of cases to ectopic ACTH secretion (CS due to EAS) by an extrapituitary tumor (in 50% of cases originating in the lungs or less commonly in the thymus, pancreas, adrenal gland or thyroid) or very rarely due to a tumor secreting both ACTH and corticotrophin-releasing hormone (CRH)." "" + "cutaneous photosensitivity-lethal colitis syndrome" "Cutaneous photosensitivity and lethal colitisis is a rare inflammatory bowel disease characterized by early cutaneous photosensitivity manifesting by sun-induced facial erythematous and vesicular lesions and severe recurent colitis which lead to untreatable diarrhea. There have been no further descriptions in the literature since 1991." "" + "cutis laxa, autosomal recessive, type 1A" "An autosomal recessive cutis laxa type I that has material basis in homozygous or compound heterozygous mutation in the FBLN5 gene on chromosome 14q32." "" + "autosomal recessive cutis laxa type 1" "Autosomal recessive cutis laxa, type 1 (ARCL1) is a generalized connective tissue disorder characterized by the association of wrinkled, redundant and sagging inelastic skin with severe systemic manifestations (lung atelectesias and emphysema, vascular anomalies, and gastrointestinal and genitourinary tract diverticuli)." "" + "ALDH18A1-related de Barsy syndrome" "ALDH18A1-related De Barsy syndrome combines intellectual deficit, bilateral cataracts, and skin and joint hyperlaxity." "" + "de Barsy syndrome" "A rare autosomal recessive genetic disorder characterized by facial dysmorphism (down-slanting palpebral fissures, a broad flat nasal bridge and a small mouth) with a progeroid appearance, large and late-closing fontanel, cutis laxa (CL), joint hyperlaxity, athetoid movements and hyperreflexia, pre- and postnatal growth retardation, intellectual deficit and developmental delay, and corneal clouding and cataract." "" + "P5CS deficiency" "An inborn error of proline/orinthine metabolism that covers a wide spectrum of phenotypes and is caused by pathogenic variants in the aldehyde dehydrogenase 18 family member A1 (ALDH18A1) gene. These variants lead to a variety of neurocutaneous and motor syndromes characterized by cutis laxa, connective tissue weakness, facial dysmorphism, growth restriction, developmental delay, cataracts, hypotonia, hypertonia, and amyotrophy." "" + "autosomal recessive cutis laxa type 2, classic type" "" + "autosomal recessive cutis laxa type 2A" "An autosomal recessive cutis laxa type II classic type that has material basis in homozygous or compound heterozygous mutations in the ATP6V0A2 gene on chromosome 12q24." "" + "cutis marmorata telangiectatica congenita" "Cutis marmorata telangiectatica congenita (CMTC) is a congenital localized or generalized vascular anomaly characterized by a persistent cutis marmorata pattern with a marbled bluish to deep purple appearance, spider nevus-like telangiectasia, phlebectasia and, occasionally, ulceration and atrophy of the affected skin." "" + "cutis verticis gyrata and intellectual disability" "" + "cyanosis and hepatic disease" "" + "cystathioninuria" "Cystathioninuria is an autosomal recessive disorder caused by cystathionine gamma-lyase deficiency. It is usually pyridoxine-dependent, but in very rare cases it may be non-dependent. It is generally considered to be a benign condition without pathogenic relevance. However, association of cystathioninuria with intellectual impairment has been reported in several cases." "" + "cysteine Peptiduria" "" + "cystic disease of lung" "" + "obsolete rare male fertility disorder with obstructive azoospermia" "True" "true" + "obsolete rare genetic disorder with obstructive azoospermia" "True" "true" + "cystic fibrosis-gastritis-megaloblastic anemia syndrome" "A rare genetic disease reported in two siblings of consanguineous Arab parents and is characterized by cystic fibrosis, gastritis associated with Helicobacter pylori, folate deficiency megaloblastic anemia, and intellectual disability. There have been no further descriptions in the literature since 1991." "" + "ventriculomegaly-cystic kidney disease" "" + "ocular cystinosis" "Ocular cystinosis is the benign, adult form of cystinosis, a metabolic disease characterized by an accumulation of cystine crystals in the cornea and conjunctiva responsible for tearing and photophobia and associated with no other additional manifestations." "" + "cystinosis" "Cystinosis is a metabolic disease characterized by an accumulation of cystine inside the lysosomes, causing damage in different organs and tissues, particularly in the kidneys and eyes. Three clinical forms have been described: nephropathic infantile, nephropathic juvenile and ocular." "" + "obsolete cystinosis, nephropathic" "" "true" + "juvenile nephropathic cystinosis" "Nephropathic juvenile cystinosis is the intermediate form, in regards to severity and age of onset, of cystinosis, a metabolic disease characterized by an accumulation of cystine inside the lysosomes that causes damage in different organs and tissues, particularly in the kidneys and eyes." "" + "nephropathic cystinosis" "An autosomal recessive condition caused by mutation(s) in the CTNS gene, encoding cystinosin. It is a sub-type of cystinosis, in which accumulation of cystine in the kidney results in renal dysfunction." "" + "cystinuria" "Cystinuria is a renal tubular amino acid transport disorder characterized by recurrent formation of kidneys cystine stones." "" + "cytochrome-c oxidase deficiency disease" "A very rare inherited metabolic disorder characterized by deficiency of the enzyme cytochrome-C oxidase. It may be manifested as an isolated myopathy or a systemic disorder. Signs and symptoms include myotonia, dysfunction of the heart, kidney, and brain, and lactic acidosis." "" + "isolated oxidative phosphorylation complex disorder" "" + "congenital lactic acidosis, Saguenay-Lac-Saint-Jean type" "Saguenay-Lac-St. Jean (SLSJ) type congenital lactic acidosis, a French Canadian form of Leigh syndrome, is a mitochondrial disease characterized by chronic metabolic acidosis, hypotonia, facial dysmorphism and delayed development." "" + "D-glyceric aciduria" "A metabolic disorder characterized by D-glyceric acid excretion. It has been described in several patients. Clinical findings include progressive neurological impairment, hypotonia, seizures, failure to thrive and metabolic acidosis. Some patients had hyperglycinemia secondary to the organic acidemia. However, some of the reported patients were asymptomatic. D-glyceric aciduria is caused by D-glycerate kinase deficiency. The GLYCTK gene has been mapped to 3p21." "" + "hereditary renal hypouricemia" "Hereditary renal hypouricemia (HRH) is a rare autosomal recessively inherited renal membrane transport disorder affecting urate reabsorption in the proximal tubules leading to usually asymptomatic hypouricemia and predisposing to urolithiasis and exercise induced acute renal failure (EIARF)." "" + "Dandy-Walker syndrome" "Dandy-Walker malformation (DWM) is the association of three signs: hydrocephalus, partial or complete absence of the cerebellar vermis, and posterior fossa cyst contiguous with the fourth ventricle, presenting early in life with hydrocephalus, bulging occiput and posterior fossa signs such as cranial nerve palsies, nystagmus and ataxia." "" + "malformation of the cerebellar vermis" "" + "cystic malformation of the posterior fossa" "" + "Ritscher-Schinzel syndrome 1" "Any Ritscher-Schinzel syndrome in which the cause of the disease is a mutation in the WASHC5 gene." "" + "Ritscher-Schinzel syndrome" "Cranio-cerebello-cardiac (3C) syndrome is a rare multiple congenital anomalies syndrome characterized by craniofacial (prominent occiput and forehead, hypertelorism, ocular coloboma, cleft palate), cerebellar (Dandy-Walker malformation, cerebellar vermis hypoplasia) and cardiac (tetralogy of Fallot, atrial and ventricular septal defects) anomalies." "" + "facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome" "Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome is characterised by Dandy-Walker malformation, severe intellectual deficit, macrocephaly, brachytelephalangy, facial dysmorphism and severe myopia. Three cases have been described. Transmission appears to be autosomal recessive." "" + "Dandy-Walker malformation-postaxial polydactyly syndrome" "Dandy-Walker malformation with postaxial polydactyly syndrome is a syndromic disorder with, as a major feature, the association between Dandy-Walker malformation and postaxial polydactyly. The Dandy-Walker malformation has a variable expression and is characterized by a posterior fossa cyst communicating with the fourth ventricle, the partial or complete absence of the cerebellar vermis, and facultative hydrocephalus. Postaxial polydactyly includes tetramelic postaxial polydactyly of hands and feet with possible enlargement of the fifth metacarpal and metatarsal bones, as well as bifid fifth metacarpals." "" + "autosomal recessive nonsyndromic hearing loss 1A" "An autosomal recessive disorder caused by mutations in the GJB2 gene, encoding gap junction beta-2 protein. The condition is characterized by profound sensorineural hearing loss and may be associated with vestibular dysfunction." "" + "deafness, congenital, and familial myoclonic epilepsy" "" + "obsolete Jervell and Lange-Nielsen syndrome" "" "true" + "DOORS syndrome" "DOORS syndrome (also known as DOOR syndrome) is a multiple congenital anomalies-intellectual disability syndrome characterized by sensorineural hearing loss (deafness), onychodystrophy, osteodystrophy, mild to profound intellectual disability, and seizures. Isolated seizure disorders and isolated hearing loss have also been reported in individuals as a proposed spectrum of DOORS syndrome." "" + "split hand-foot malformation 1 with sensorineural hearing loss" "Split hand - split foot - deafness is an extremely rare genetic syndrome reported in a few families to date and characterized clinically by split hand/split foot malformation (SHFM) and mild to moderate sensorineural hearing loss, sometimes associated with cleft palate and intellectual deficit." "" + "deafness, congenital, with total albinism" "" + "high myopia-sensorineural deafness syndrome" "High myopia-sensorineural deafness syndrome is a rare genetic disease characterized by high myopia, typically ranging from -6.0 to -11.0 diopters, and moderate to profound, bilateral, progressive sensorineural hearing loss with prelingual-onset. Affected individuals do not present other systemic, ocular or connective tissue manifestations." "" + "conductive deafness-malformed external ear syndrome" "" + "conductive deafness-ptosis-skeletal anomalies syndrome" "Conductive deafness-ptosis-skeletal anomalies syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by conductive hearing loss due to atresia of the external auditory canal and the middle ear complicated by chronic infection, ptosis and skeletal anomalies (internal rotation of hips, dislocation of the radial heads and fifth finger clinodactyly). In addition, a thin, pinched nose, delayed hair growth and dysplastic teeth are associated. There have been no further descriptions in the literature since 1978." "" + "deafness-vitiligo-achalasia syndrome" "Deafness-vitiligo-achalasia syndrome is characterized by the association of deafness, short stature, vitiligo, muscle wasting, and achalasia." "" + "deafness-small bowel diverticulosis-neuropathy syndrome" "Deafness-small bowel diverticulosis-neuropathy syndrome is characterised by progressive sensorineural deafness, progressive sensory neuropathy and gastrointestinal abnormalities (progressive loss of gastric motility, small bowel diverticulosis)." "" + "deafness, neural, congenital moderate" "" + "deafness, neural, with atypical atopic dermatitis" "" + "deafness-oligodontia syndrome" "Deafness-oligodontia syndrome is characterised by sensorineural hearing loss and oligodontia/hypodontia. It has been described in two pairs of siblings and in one isolated case. Dizziness was reported in one of the pairs of siblings. Transmission appears to be autosomal recessive." "" + "hearing loss, sensorineural, autosomal-mitochondrial type" "" + "mitochondrial non-syndromic sensorineural hearing loss" "" + "non-acquired combined pituitary hormone deficiency with spine abnormalities" "Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome is a rare, genetic, non-acquired, combined pituitary hormone deficiency disorder characterized by panhypopituitarism (with or without ACTH deficiency) associated with spine abnormalities, including frequent rigid cervical spine and short neck with limited rotation, and variable degrees of sensorineural hearing loss. The anterior pituitary gland is usually abnormal (typically hypoplastic) and rarely a mild developmental delay or intellectual disability may be associated." "" + "polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly" "A rare inherited leukodystrophy characterized by progressive presenile dementia associated with recurrent bone fractures due to polycystic osseous lesions of the lower and upper extremities." "" + "dermatoleukodystrophy" "Dermatoleukodystrophy is characterised by the association of a progressive leukodystrophy marked by generalised mental and motor impairment with the presence of thickened and wrinkled skin. It has been described in a Japanese brother and sister born to healthy parents. Both patients died in early childhood." "" + "dermochondrocorneal dystrophy" "Dermochondrocorneal dystrophy is characterised by osteochondrodystrophy of the hands and feet, corneal dystrophy and the presence of skin nodules clustered around the metacarpophalangeal and interphalangeal joints, around the nose and ears and on the posterior surface of the elbow. Gingival lesions may also be present. It has been described in less than 20 patients. Transmission is autosomal recessive." "" + "dermatoosteolysis, Kirghizian type" "Dermatoosteolysis, Kirghizian type, is characterised by recurrent skin ulceration, arthralgia, fever, peri-articular osteolysis, oligodontia and nail dystrophy. This disease has been described in five sibs in a family of Kirghizian origin (Central Asia). Three of the sibs also presented with keratitis leading to visual impairment or blindess. Transmission is autosomal recessive." "" + "hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia" "Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia is a rare autosomal dominant disease characterized by a complex phenotype including progressive dementia, apraxia, apathy, impaired balance, parkinsonism, spasticity and epilepsy." "" + "persistent hyperplastic primary vitreous, autosomal recessive" "Autosomal recessive form of persistent hyperplastic primary vitreous." "" + "persistent hyperplastic primary vitreous" "A developmental ocular anomaly in which the primary vitreous body and its surrounding hyaloid vasculature failed to regress. It is usually unilateral and characterized by cataract; microphthalmos (small eyeballs), and retrolenticular fibrovascular tissue. (from Yanoff: Ophthalmology, 2nd ed.)" "" + "dextrocardia with unusual facies and microphthalmia" "" + "nephrogenic diabetes insipidus-intracranial calcification syndrome" "This syndrome is characterised by nephrogenic diabetes insipidus, intracerebral calcifications, intellectual deficit, short stature and facial dysmorphism." "" + "IDDM 1" "" + "Wolfram syndrome 1" "Any Wolfram syndrome in which the cause of the disease is a mutation in the WFS1 gene." "" + "Wolfram syndrome" "Wolfram syndrome (WS) also known as DIDMOAD, is a neurodegenerative disorder characterized by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs. Other related problems are urinary tract atony, ataxia, peripheral neuropathy, psychiatric disorders and/or seizures. 2 types of WS may be distinguished: type 1 and type 2 (WS1 and WS2)." "" + "diaminopentanuria" "" + "diaphragmatic hernia 2" "" + "Donnai-Barrow syndrome" "Donnai-Barrow syndrome (DBS) is a rare, often severe, multiple congenital malformation syndrome with typical facial dysmorphism, ocular findings, hearing loss, agenesis of the corpus callosum, and variable intellectual disability. Congenital diaphragmatic hernia (CDH) and/or omphalocele are common." "" + "trichohepatoenteric syndrome" "A severe congenital enteropathy manifesting as intractable diarrhea in the first month of life with failure to thrive and associated with facial dysmorphism, hair abnormalities, and, in some cases, immune disorders and intrauterine growth restriction." "" + "primary immunodeficiency due to a genetic defect in innate immunity" "" + "intractable diarrhea of infancy" "Intractable diarrhoea of infancy (IDI) is a heterogeneous syndrome that includes several diseases with different aetiologies. Provisional classification of IDI, according to villous atrophy and based on immunohistological criteria, distinguishes two clearly different groups of IDI: 1) Immune-mediated: characterised by a mononuclear cell infiltration of the lamina propria and considered as being related to T cell activation. 2) The second histological pattern includes early onset severe intractable diarrhoea histologically characterised by villous atrophy with low or without mononuclear cell infiltration of the lamina propria but specific histological abnormalities involving the epithelium." "" + "diastematomyelia" "A rare congenital abnormality in which the spinal cord is split in half by fibrous or bony tissue. It may present as an isolated phenomenon or in association with spina bifida." "" + "diastrophic dysplasia" "Diastrophic dwarfism is a rare disorder marked by short stature with short extremities (final adult height is 120cm +/- 10cm), and joint malformations leading to multiple joint contractures (principally involving the shoulders, elbows, interphalangeal joints and hips)." "" + "sulfation-related bone disorder" "" + "hyperdibasic aminoaciduria type 1" "Hyperdibasic aminoaciduria, type 1 is characterised by increased renal clearance of lysine, ornithine and arginine, in the presence of normal concentrations of cystine. Heterozygous individuals are asymptomatic but homozygotes display intellectual deficit. To date, 25 heterozygotes and one homozygote have been reported." "" + "lysinuric protein intolerance" "Lysinuric protein intolerance (LPI) is a very rare inherited multisystem condition caused by distrubance in amino acid metabolism." "" + "dicarboxylic aminoaciduria" "Dicarboxylicaminoaciduria is characterised by infantile-onset hypoglycaemia and hyperprolinaemia associated, in certain cases, with intellectual deficit." "" + "dihydropyrimidinuria" "Dihydropyrimidinase (DPD) deficiency is a very rare pyrimidine metabolism disorder with a variable clinical presentation including gastrointestinal manifestations (feeding problems, cyclic vomiting, gastroesophageal reflux, malabsorption with villous atrophy), hypotonia, intellectual deficit, seizures, and less frequently growth retardation, failure to thrive, microcephaly and autism. Asymptomatic cases are also reported. DPD deficiency increases the risk of 5-FU toxicity." "" + "inborn disorder of pyrimidine metabolism" "ANPM" "" + "rhizomelic chondrodysplasia punctata type 2" "Any rhizomelic chondrodysplasia punctata in which the cause of the disease is a mutation in the GNPAT gene." "" + "glyceronephosphate O-acyltransferase deficiency" "Any disorder of plasmalogen biosynthesis in which the cause of the disease is a mutation in the GNPAT gene." "" + "hemolytic anemia due to diphosphoglycerate mutase deficiency" "A rare, autosomal recessive, inherited disorder caused by mutation of the BPGM gene. It is characterized by hemolytic anemia and splenomegaly." "" + "disorder of glycolysis" "" + "hemolytic anemia due to a disorder of glycolytic enzymes" "True" + "congenital sucrase-isomaltase deficiency" "A disorder of carbohydrate absorption and transport caused by autosomal recessive mutation of the SI gene, characterised by malabsorption of sucrose and maltose." "" + "disorder of carbohydrate absorption and transport" "" + "congenital lactase deficiency" "Congenital lactase deficiency is a rare severe gastrointestinal disorder in newborns primarily reported in Finland and characterized clinically by watery diarrhea on feeding with breast-milk or lactose-containing formula." "" + "obsolete lactose intolerance" "" "true" + "obsolete disorganization, mouse, homolog of" "" "true" + "disseminated sclerosis with narcolepsy" "" + "diverticulosis, small-intestinal" "" + "diverticulosis of bowel, hernia, and retinal detachment" "A syndromic intestinal malformation characterized by the association of marfanoid habitus with visceral diverticula. It has been reported in four adults and two siblings from a consanguineous marriage in two different publications. Pediatric cases also presented with diaphragmatic hernia. Other connective tissue disorders with visceral diverticula have been reported previously, suggesting a relationship between these two conditions." "" + "syndromic intestinal malformation" "A intestinal malformation that is part of a larger syndrome." "" + "von Voss-Cherstvoy syndrome" "Von Voss-Cherstvoy syndrome is a very rare disorder with phocomelia of upper limbs, encephalocele, variable brain anomalies, urogenital abnormalities, and thrombocytopenia." "" + "Dohle bodies and leukemia" "" + "dopamine beta-hydroxylase deficiency" "Dopamine beta-hydroxylase deficiency is an extremely rare genetic metabolic disorder characterized by autonomic dysregulation leading mainly to orthostatic hypotension." "" + "disorder of catecholamine synthesis" "" + "inherited orthostatic hypotension" "" + "Dubowitz syndrome" "Dubowitz syndrome (DS) is a rare multiple congenital syndrome characterized primarly by growth retardation, microcephaly, distinctive facial dysmorphism, cutaneous eczema, a mild to severe intellectual deficit and genital abnormalities." "" + "dopamine beta-hydroxylase, plasma, thermolability of" "True" + "duodenal atresia" "Duodenal atresia is an embryopathy of the cranial intestine that leads to a complete absence of the duodenal lumen." "" + "non-syndromic gastroduodenal malformation" "A gastroduodenal malformation that is not part of a larger syndrome." "" + "non-syndromic intestinal malformation" "A intestinal malformation that is not part of a larger syndrome." "" + "dwarfism, low-birth-weight type, with unresponsiveness to growth hormone" "" + "dwarfism, intellectual disability, and eye abnormality" "" + "dwarfism, proportionate, with hip dislocation" "" + "Dyggve-Melchior-Clausen disease" "Dyggve-Melchior-Clausen disease (DMC) is a rare skeletal disorder belonging to the group of spondyloepimetaphyseal dysplasias." "" + "Riley-Day syndrome" "A congenital disorder caused by mutations in the IKBKAP gene. It is characterized by damage of the sympathetic and parasympathetic and sensory nervous system." "" + "autosomal recessive hereditary sensory and autonomic neuropathy" "Autosomal recessive form of hereditary sensory and autonomic neuropathy." "" + "congenital alacrima" "" + "dysautonomia-like disorder" "" + "cerebellar ataxia, intellectual disability, and dysequilibrium" "A non-progressive cerebellar disorder characterized by ataxia associated with an intellectual disability, delayed ambulation and cerebellar hypoplasia." "" + "congenital dyserythropoietic anemia type 2" "Congenital dyserythropoietic anemia type II (CDA II) is the most common form of CDA characterized by anemia, jaundice and splenomegaly and often leading to liver iron overload and gallstones." "" + "disorder of multiple glycosylation" "" + "anemia, congenital dyserythropoietic, type 1a" "" + "congenital dyserythropoietic anemia type 1" "Congenital dyserythropoietic anemiatype I (CDA I) is a hematologic disorder of erythropoiesis characterized by moderate to severe macrocytic anemia occasionally associated with limb or nail deformities and scoliosis." "" + "dyskeratosis congenita, autosomal recessive 1" "A dyskeratosis congenita that has material basis in an autosomal recessive mutation of NOLA3 on chromosome 15q14." "" + "dysmyelination with jaundice" "" + "dysosteosclerosis" "Dysosteosclerosis is a skeletal dysplasia characterized by progressive osteosclerosis and platyspondyly." "" + "dyssegmental dysplasia, Rolland-Desbuquois type" "" + "Silverman-Handmaker type dyssegmental dysplasia" "Dyssegmental dysplasia, Silverman-Handmaker type is a rare, genetic, primary bone dysplasia, and lethal form of neonatal short-limbed dwarfism, characterized by anisospondyly, severe short stature and limb shortening, metaphyseal flaring and distinct dysmorphic features (i.e. flat facial appearance, abnormal ears, short neck, narrow thorax). Additional features may include other skeletal findings (e.g. joint contractures, bowed limbs, talipes equinovarus) and urogenital and cardiovascular abnormalities." "" + "qualitative or quantitative defects of perlecan" "" + "perlecan-related bone disorder" "" + "torsion dystonia 2" "Primary dystonia DYT2 type is characterized by segmental dystonia that manifests with involuntary posturing affecting predominantly the feet." "" + "dystonia with Ringbinden" "" + "Meier-Gorlin syndrome 1" "Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the ORC1 gene." "" + "Meier-Gorlin syndrome" "Ear-patella-short stature syndrome is an association of malformations including bilateral microtia (severe hypoplasia of ear pinnae), absent patellae, short stature, poor weight gain, and characteristic facial features such as high forehead, micrognathism with full lips and small mouth, and accentuated nasolabial folds (smile wrinkles linking the nostrils to the labial commissure)." "" + "Ebstein anomaly" "Ebstein's malformation is a rare congenital cardiac anomaly characterized by rotational displacement of the septal and inferior leaflets of the tricuspid valve such that they are hinged within the right ventricle, rather than as expected at the atrioventricular junction." "" + "obsolete genetic cardiac malformation" "" "true" + "SchC6pf-Schulz-Passarge syndrome" "A rare autosomal recessive ectodermal dysplasia characterized by multiple eyelid apocrine hidrocystomas, palmoplantar keratoderma, hypotrichosis, hypodontia and nail dystrophy." "" + "ectodermal dysplasia-sensorineural deafness syndrome" "Ectodermal dysplasia-sensorineural deafness syndrome is characterised by hidrotic ectodermal dysplasia, sensorineural hearing loss, and contracture of the fifth fingers. It has been described in brother and sister born to consanguineous parents. The girl also presented with thoracic scoliosis. The mode of inheritance is likely to be autosomal recessive." "" + "ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive" "" + "autosomal recessive hypohidrotic ectodermal dysplasia" "A rare autosomal recessive disorder characterized by developmental abnormalities of the skin, sweat glands, hair and nails. Patients have a reduced ability to sweat. Other signs and symptoms include hypotrichosis and teeth malformations." "" + "Rosselli-Gulienetti syndrome" "A rare congenital ectodermal dysplasia syndrome with a range of signs and symptoms including cleft lip or palate, mental retardation and various forms of ectodermal dysplasia. Additional symptoms may include fused eyelids, absent nails, delayed bone growth and dry skin. It is believed that this syndrome follows an autosomal dominant pattern of inheritance with incomplete penetrance, and caused by a mutation affecting the TP63 gene" "" + "ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome" "Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome is a rare, multiple developmental anomalies syndrome characterized by the triad of ectodermal dysplasia (mostly hypohidrotic with dry skin and reduced sweating and sparse, fair scalp hair, eyebrows and eyelashes), severe intellectual disability and variable central nervous system anomalies (cerebellar hypoplasia, dilatation of ventricles, corpus callosum agenesis, Dandy-Walker malformation). Distinct craniofacial dysmorphism with macrocephaly, frontal bossing, midfacial hypoplasia and high arched or cleft palate, as well as cryptorchidism, feeding difficulties and hypotonia, are associated. There have been no further descriptions in the literature since 1998." "" + "hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome" "Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome is characterised by alopecia, nail dystrophy, ophthalmic complications, thyroid dysfunction (primary hypothyroidism), hypohidrosis, ephelides, enteropathy, and respiratory tract infections due to ciliary dyskinesia, leading to suggestion of the acronym ANother syndrome as alternative name for this condition. It has been described in three patients (two brothers and an unrelated girl). Transmission is autosomal recessive." "" + "syndromic hypothyroidism" "A hypothyroidism that is part of a larger syndrome." "" + "cleft lip/palate-ectodermal dysplasia syndrome" "An ectodermal dysplasia syndrome characterized by hair, skin and teeth anomalies, facial dysmophism with cleft lip and palate, cutaneous syndactyly and, in some cases, intellectual disability." "" + "ectopia lentis 2, isolated, autosomal recessive" "An isolated ectopia lentis that has material basis in homozygous or compound heterozygous mutation in the ADAMTSL4 gene on chromosome 1q21." "" + "ectopia lentis et pupillae" "" + "hypothyroidism, congenital, nongoitrous, 5" "Any hypothyroidism, congenital, nongoitrous in which the cause of the disease is a mutation in the NKX2-5 gene." "" + "EEM syndrome" "EEM syndrome is characterised by the association of ectodermal dysplasia, ectrodactyly, and macular dystrophy. So far, it has been described in individuals from seven families. Hypotrichosis, dental anomalies and absent eyebrows have also been reported. EMM syndrome appears to be transmitted as an autosomal recessive trait and may be caused by mutations in the cadherin-3 gene (CH3, 16q22.1)." "" + "ectrodactyly-polydactyly syndrome" "A rare, genetic, congenital limb malformation disorder characterized by hypoplasia or absence of central digital rays of the hands and/or feet and the presence of one or more, unilateral or bilateral, supernumerary digits on postaxial rays, ranging from hypoplastic digits devoid of osseous structures to complete duplication of a digit. Cutaneous syndactyly, symphalangism and clinodactyly have also been reported. There have been no further descriptions in the literature since 1982." "" + "split hand-foot malformation 6" "Any split hand-foot malformation in which the cause of the disease is a mutation in the WNT10B gene." "" + "Ehlers-Danlos syndrome, fibronectinemic type" "Ehlers-Danlos syndromes (EDS) form a heterogeneous group of inherited connective tissue disorders characterized by variable joint hypermobility and cutaneous hyperextensibility. Type X is distinguished by platelet dysfunction associated with a fibronectin abnormality. Type X EDS has been described in only one family so far. Age of onset is about 13-25 years. Transmission is autosomal recessive." "" + "Ehlers-Danlos syndrome, cardiac valvular type" "Ehlers-Danlos syndrome, cardiac valvular type is a form of Ehlers-Danlos syndrome characterized by soft skin, skin hyperextensibility, easy bruisability, atrophic scar formation, joint hypermobility and cardiac valvular defects comprising mitral and/or aortic valve insufficiency." "" + "obsolete Ehlers-Danlos syndrome, type 6" "" "true" + "Ehlers-Danlos syndrome, dermatosparaxis type" "A form of Ehlers-Danlos syndrome (EDS) characterized by extreme skin fragility and laxity, a prominent facial gestalt, excessive bruising and, sometimes, major complications due to visceral and vascular fragility." "" + "Ellis-van Creveld syndrome" "Ellis-van Creveld syndrome (EVC) is a skeletal and ectoderlam dysplasia characterized by a tetrad of short stature, postaxial polydactyly, ectodermal dysplasia, and congenital heart defects." "" + "encephalomalacia, multilocular" "" + "encephalopathy, axonal, with necrotizing myopathy, cardiomyopathy, and cataracts" "" + "Aicardi-Goutieres syndrome 1" "Any Aicardi-Goutieres syndrome in which the cause of the disease is a mutation in the TREX1 gene." "" + "pontocerebellar hypoplasia type 4" "Pontocerebellar hypoplasia type 4 (PCH4) is a very rare form of PCH, characterized by prenatal onset of polyhydramnios and contractures followed by hypertonia, severe clonus, primary hypoventilation leading to an early postnatal death." "" + "pontocerebellar hypoplasia" "Pontocerebellar hypoplasias (PCH) are a rare heterogeneous group of diseases characterized by hypoplasia and atrophy and/or early neurodegeneration of the cerebellum and pons. Eight subtypes named type 1-8 have been described, generally inherited in an autosomal recessive pattern." "" + "Bonnemann-Meinecke-Reich syndrome" "Bonnemann-Meinecke-Reich syndrome is a syndrome of multiple congenital anomalies characterized by an encephalopathy which predominantly occurs in the first year of life and presenting as psychomotor delay. Additional features of the disease include moderate dysmorphia, craniosynostosis, dwarfism (due to growth hormone deficiency), intellectual disability, spasticity, ataxia, retinal degeneration, and adrenal and uterine hypoplasia. The disease has been described in only two families, with each family having two affected siblings. An autosomal recessive inheritance has been suggested. There have been no further descriptions in the literature since 1991." "" + "Fowler syndrome" "" + "endocardial fibroelastosis" "Endomyocardial fibroelastosis is a cause of unexplained childhood cardiac insufficiency. It results from diffuse thickening of the endocardium leading to dilated myocardiopathy in the majority of cases and restrictive myocardiopathy in rare cases. It may occur as a primary disorder or may be secondary to another cardiac malformation, notably aortic stenosis or atresia." "" + "familial dilated cardiomyopathy" "A a genetic form of heart disease that occurs when heart (cardiac) muscle becomes thin and weakened in at least one chamber of the heart, causing the open area of the chamber to become enlarged (dilated). As a result, the heart is unable to pump blood as efficiently as usual. To compensate, the heart attempts to increase the amount of blood being pumped through the heart, leading to further thinning and weakening of the cardiac muscle. Over time, this condition results in heart failure." "" + "familial restrictive cardiomyopathy" "An instance of restrictive cardiomyopathy that is caused by an inherited modification of the individual's genome." "" + "endocardial fibroelastosis and coarctation of abdominal aorta" "" + "endothelial dystrophy, congenital hereditary, with nail hypoplasia" "" + "congenital enteropathy due to enteropeptidase deficiency" "A rare, genetic, gastroenterological disease characterized by early-onset failure to thrive, edema, hypoproteinemia, diarrhea and fat malabsorption (or steatorrhea) in the presence of very low or absent trypsin activity in duodenal fluid. Celiac disease, or other pancreatic or mucosal disorders, may be associated." "" + "protein-losing enteropathy" "Pathological conditions in the intestines that are characterized by the gastrointestinal loss of serum proteins, including serum albumin; immunoglobulins; and at times lymphocytes. Severe condition can result in hypogammaglobulinemia or lymphopenia. Protein-losing enteropathies are associated with a number of diseases including intestinal lymphangiectasis; whipple'S disease; and neoplasms of the small intestine." "" + "eosinophilic fasciitis" "Eosinophilic fasciitis is a rare connective tissue disease that is characterized by inflammation and thickening of the fascia, usually associated with peripheral eosinophilia. It presents during adulthood with symmetrical and painful swelling of mainly the extremities that progressively become indurated. Fatigue, disabling cutaneous fibrosis, myositis and arthritis may also be observed." "" + "acquired idiopathic inflammatory myopathy" "An umbrella term for diseases which have chronic muscle inflammation and weakness of unknown etiology. The types of idiopathic inflammatory myopathy are further defined by either clinicopathologic criteria or by the presence of certain autoantibodies." "" + "epidermodysplasia verruciformis" "Epidermodysplasia verruciformis (EV) is a rare inherited genodermatosis characterized by chronic infection with human papillomavirus (HPV) leading to polymorphous cutaneous lesions and high risk of developing non melanoma skin cancer." "" + "late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome" "" + "junctional epidermolysis bullosa" "Junctional epidermolysis bullosa (JEB) is a form of inherited epidermolysis bullosa characterized by involvement of the skin and mucous membranes, and is defined by the formation of blistering lesions between the epidermis and the dermis at the lamina lucida level of the cutaneous basement membrane zone and by healing of lesions with atrophy and/or exuberant granulation tissue formation." "" + "epidermolysis bullosa dystrophica Neurotrophica" "" + "recessive dystrophic epidermolysis bullosa" "Severe generalized recessive dystrophic epidermolysis bullosa (RDEB-sev gen) is the most severe subtype of dystrophic epidermolysis bullosa (DEB), formerly known as the Hallopeau-Siemens type, and is characterized by generalized cutaneous and mucosal blistering and scarring associated with severe deformities and major extracutaneous involvement." "" + "junctional epidermolysis bullosa, non-Herlitz type" "Junctional epidermolysis bullosa, non-Herlitz (JEB-nH) is a subtype of junctional epidermolysis bullosa (JEB) characterized by the presence of skin and mucosal blistering, nail dystrophy or nail absence and enamel hypoplasia." "" + "junctional epidermolysis bullosa Herlitz type" "Junctional epidermolysis bullosa, Herlitz-type is a severe subtype of junctional epidermolysis bullosa (JEB) characterized by blisters and extensive erosions, localized to the skin and mucous membranes." "" + "epidermolysis bullosa simplex with muscular dystrophy" "Epidermolysis bullosa simplex with muscular dystrophy (EBS-MD) is a basal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized blistering associated with muscular dystrophy." "" + "autosomal recessive limb-girdle muscular dystrophy" "Autosomal recessive form of limb-girdle muscular dystrophy." "" + "qualitative or quantitative defects of plectin" "" + "junctional epidermolysis bullosa with pyloric atresia" "Junctional epidermolysis bullosa with pyloric atresia is a severe subtype of junctional epidermolysis bullosa (JEB) characterized by generalized blistering at birth and congenital atresia of the pylorus and rarely of other portions of the gastrointestinal tract." "" + "epidermolysis bullosa with diaphragmatic hernia" "" + "amelocerebrohypohidrotic syndrome" "Kohlschütter-TC6nz syndrome (KTS) is a genetically heterogeneous autosomal recessive syndrome characterized by the triad of amelogenesis imperfect, infantile onset epilepsy, intellectual disability with or without regression and dementia." "" + "epilepsy, photogenic, with spastic diplegia and intellectual disability" "" + "celiac disease-epilepsy-cerebral calcification syndrome" "Celiac disease, epilepsy and cerebral calcification syndrome (CEC) is a rare disorder characterized by the combination of auto-immune intestinal disease, epileptic seizures and cerebral calcifications." "" + "antibody mediated epilepsy" "An immune epilepsy where the underlying cause is antibody mediated." "" + "epilepsy-telangiectasia syndrome" "Epilepsy telangiectasia syndrome is characterized by intellectual deficit, epilepsy, palpebral conjunctival telangiectasias and diminished serum IgA, particular facies and a shortened fifth finger. It has been reported in six siblings from a Mexican family. It is probably transmitted as an autosomal recessive trait." "" + "multiple epiphyseal dysplasia type 4" "Multiple epiphyseal dysplasia type 4 is a multiple epiphyseal dysplasia with a late-childhood onset, characterized by joint pain involving hips, knees, wrists, and fingers with occasional limitation of joint movements, deformity of hands, feet, and knees (club foot, clinodactyly, brachydactyly), scoliosis and slightly reduced adult height. Radiographs display flat epiphyses with early arthritis of the hip, and double-layered patella. Multiple epiphyseal dysplasia type 4 follows an autosomal recessive mode of transmission. The disease is allelic to diastrophic dwarfism, atelosteogenesis type 2 and achondrogenesis type 1B with whom it forms a clinical continuum." "" + "epiphyseal dysplasia of femoral head, myopia, and deafness" "" + "Lowry-Wood syndrome" "Lowry-Wood syndrome is characterized by the association of epiphyseal dysplasia, short stature, microcephaly and, in the first reported cases, congenital nystagmus. So far, less than 10 cases have been described in the literature. Variable degrees of intellectual deficit have also been reported. Other occasional features include retinitis pigmentosa and coxa vara. Transmission appears to be autosomal recessive." "" + "Wolcott-Rallison syndrome" "Wolcott-Rallison syndrome (WRS) is a very rare genetic disease, characterized by permanent neonatal diabetes mellitus (PNDM) with multiple epiphyseal dysplasia and other clinical manifestations, including recurrent episodes of acute liver failure." "" + "epithelial squamous dysplasia, keratinizing desquamative, of urinary tract" "" + "immunodeficiency 32B" "A rare progressive disease that begins as a primary Epstein-Barr virus (EBV) infection. In this type of infection, the body makes too many lymphocytes (lymphoproliferative disease) for a period of more than 6 months duration. Lymphocytes are a type of white blood cell. They are an importantpart ofthe immune system because they help fight off diseases and protect the body from infection byproducing antibodies against viruses or bacteria and regulating immune responses. In CAEBV there are many antibodies againstEBV in the blood.Most people (about 95% of adults) get infected with EBV at some point in their lives, and never have any health problems.However, EBV can cause infectiousmononucleosis and other illnesses, and has a role in various autoimmune diseases and some types of cancer. While most infections occurring during childhood do not cause any symptoms,EBV infection in adolescents or young adults can often result in mononucleosis.After an EBV infection, the virus becomes latent (inactive) in the body, and, in some cases, the virus may reactivate. This does not always cause symptoms, but people with weakened immune systems are more likely to develop symptoms if EBV reactivates.In rare cases, people infected with EBV develop chronic active EBV virus infection(CAEBV) without apparent immunodeficiency. Most cases of CAEBV have been reported from Japan. These patientshave some of the complications found in otherwise-healthy patients with acute EBV infection, but unlike healthy patients, these complications persist and progress. Symptoms of CAEBV most often include fever, liverdysfunction, an enlarged spleen (splenomegaly), swollen lymph nodes (lymphadenopathy), and low numbers of platelets (thrombocytopenia) as well as high EBV-DNA load in the blood. Other features that appear in more than 10% of patients include enlarged liver (hepatomegaly), anemia, hypersensitivity to mosquito bites, rash, oral ulcers, hemophagocytic syndrome, coronary artery aneurysms, liver failure, lymphoma, and interstitial pneumonia. While the cause is yet unknown, researchers have identified defects in T cells or natural killer (NK) cells activity which results in a decreased defense against the EBV in people with CAEBV.It is important to note that the fatigue and malaise from acute infectious mononucleosis (IM)varies from mild symptoms lasting only a few weeks, to more severe symptoms of fatigue that can persist for several months, or even up to a year or more in up to 10% of patients (which may be considered a less severe form of chronicEBV infection). The persistence of fatigue that is seen in some patients after acute IM would lead some people to believe that EBV may also cause cases of chronic fatigue syndrome (CFS). However, no convincing link has been found between EBV and CFS.Hematopoietic stemcell transplantation has shown promise in the treatment of CAEBV." "" + "erythema of acral regions" "" + "ermine phenotype" "Cutaneous albinism-ermine phenotype is characterised by the association of white hair with black tufts, depigmented skin and sensorineural deafness. It has been described in two pairs of siblings and one individual case. The depigmentation may present as vitiligo, or be spotted with brown patches. Nystagmus, photophobia, retinal depigmentation and intellectual deficit were also reported in one pair of siblings. An autoimmune mechanism or failure of melanocyte migration may be responsible for the disease." "" + "transient erythroblastopenia of childhood" "An acquired pure red cell aplasia that is self-limited. It is the most common cause of decreased red blood cell production in the pediatric population, and typically presents as a normocytic anemia with reticulocytopenia in an otherwise asymptomatic and normal child with no evidence of other causes for anemia, including blood loss, hemolysis, nutritional deficiency, or malignancy." "" + "primary acquired red cell aplasia" "" + "congenital lethal erythroderma" "A rare skin disorder characterized by erythrodermic, peeling skin from birth with no obvious nail or hair-shaft abnormalities and other associated anomalies including diarrhea, failure to thrive and severe hypoalbuminaemia resistant to correction by enteral or intravenous supplementation. An autosomal recessive mode of inheritance is highly probable. The prognosis is poor and infants die in the first months of life. There have been no further descriptions in the literature since 1992." "" + "ethanolaminosis" "" + "eyebrow duplication-syndactyly syndrome" "Eyebrow duplication-syndactyly syndrome is characterised by partial duplication of the eyebrows and syndactyly of the fingers and toes. It has been described in three patients (a brother and sister and an isolated case). Skin hyperelasticity, hypertrichosis and long eyelashes, and abnormal periorbital wrinkling were also reported in some of the patients. Transmission is autosomal recessive." "" + "facial abnormalities, kyphoscoliosis, and intellectual disability" "" + "Thakker-Donnai syndrome" "" + "focal facial dermal dysplasia type III" "Focal facial dermal dysplasia type III (FFDD3) is a rare focal facial facial dysplasia (FFDD), characterized primarily by congenital bitemporal scar-like depressions and a typical, but variable facial dysmorphism, which may include distichiasis (upper lids) or lacking eyelashes, slanted eyebrows and a flattened and/or bulbous nasal tip and other features such as a low frontal hairline, sparse hair, redundant skin, epicanthal folds, low-set dysplastic ears, blepharitis and conjunctivitis." "" + "lethal faciocardiomelic dysplasia" "Lethal faciocardiomelic dysplasia is an extremely rare polymalformative syndrome." "" + "faciocardiorenal syndrome" "Faciocardiorenal syndrome is a very rare syndrome characterized by intellectual deficit, horseshoe kidney, and congenital heart defects." "" + "factor V and factor VIII, combined deficiency of, type 1" "Any combined deficiency of factor V and factor VIII in which the cause of the disease is a mutation in the LMAN1 gene." "" + "combined deficiency of factor V and factor VIII" "Combined deficiency of factor V and factor VIII is an inherited bleeding disorder due to the reduction in activity and antigen levels of both factor V (FV) and factor VIII (FVIII) and characterized by mild-to-moderate bleeding symptoms." "" + "factor V and factor VIII, combined deficiency of, with normal protein C and protein C inhibitor" "" + "faciothoracogenital syndrome" "" + "autosomal recessive faciodigitogenital syndrome" "Autosomal recessive facio-digito-genital syndrome is a very rare syndrome including short stature, facial dysmorphism, hand abnormalities and shawl scrotum." "" + "congenital factor V deficiency" "Congenital factor V deficiency is an inherited bleeding disorder due to reduced plasma levels of factor V (FV) and characterized by mild to severe bleeding symptoms." "" + "factor V deficiency" "A coagulation disorder characterized by the partial or complete absence of factor V activity in the blood." "" + "hemorrhagic disorder due to a coagulation factors defect" "True" + "congenital factor VII deficiency" "Factor VII (FVII) deficiency is a rare hereditary hemorrhagic disease caused by the diminution or absence of this coagulation factor." "" + "congenital vitamin K-dependent coagulation factors deficiency" "Congenital vitamin K-dependent coagulation factors deficiency involving multiple coagulation factors." "" + "congenital factor X deficiency" "Congenital factor X deficiency is an inherited bleeding disorder with a decreased antigen and/or activity of factor X (FX) and characterized by mild to severe bleeding symptoms." "" + "Fanconi anemia complementation group C" "Fanconi anemia caused by mutations of the FANCC gene. This gene provides instructions for making a protein that delays the onset of apoptosis and promotes homologous recombination repair of damaged DNA." "" + "Fanconi anemia" "Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors." "" + "Fanconi anemia complementation group D2" "Fanconi anemia caused by mutations of the FANCD2 gene. This gene is involved in the repair of DNA double-strand breaks, both by homologous recombination and single-strand annealing." "" + "Fanconi anemia complementation group A" "Fanconi anemia caused by mutations of the FANCA gene. FANCA gene mutations are the most common cause of Fanconi anemia. This gene provides instructions for making a protein that is involved in the Fanconi anemia (FA) pathway." "" + "glycogen storage disease due to GLUT2 deficiency" "Fanconi-Bickel glycogenosis (FBG) is a rare glycogen storage disease characterized by hepatorenal glycogen accumulation, severe renal tubular dysfunction and impaired glucose and galactose metabolism." "" + "Fanconi-like syndrome" "A syndrome characterized by pancytopenia, immune deficiency and cutaneous malignancies." "" + "Farber lipogranulomatosis" "A rare sphingolipid disorder characterized by a spectrum of clinical signs ranging from the classical triad of painful and progressively deformed joints, subcutaneous nodules, and progressive hoarseness (due to laryngeal involvement) that presents in infancy, to varying phenotypes with respiratory and neurologic involvement." "" + "fascial dystrophy, congenital" "" + "visceral steatosis, congenital" "" + "femur-fibula-ulna complex" "Femur-fibula-ulna (FFU) complex is a non-lethal congenital anomaly of unknown etiology, more frequently reported in males than females, characterized by a highly variable combination of defects of the femur, fibula, and/or ulna, with striking asymmetry, including absence of the proximal part of the femur, absence of the fibula and malformation of the ulnar side of the upper limb. Axial skeleton, internal organs and intellectual function are usually normal." "" + "Gollop-Wolfgang complex" "Gollop-Wolfgang complex is a very rare malformation characterized by ectrodactyly of the hand and ipsilateral bifurcation of the femur." "" + "hypogonadotropic hypogonadism 23 with or without anosmia" "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the LHB gene." "" + "Leydig cell hypoplasia" "A condition in males that affects sexual development. It is characterized by underdevelopment of the Leydig cells, which are cells in the testes that secrete male sex hormones (androgens) and are important for male sexual development. Individuals with LCH have a typical male genetic make-up (46, XY), but due to lowered levels of androgens, may have a range of genital (reproductive organ) differences. Individuals with LCH may have a small penis (micropenis),the opening of the urethra may be located on the underside of the penis (hypospadias), or the scrotum may be divided into two halves (bifid scrotum). Given these differences in development, the external genitalia may not appear clearly male or female (ambiguous genitalia). Some individuals with LCH can have female external genitalia and small testes that have not descended and are located in the pelvis, abdomen, or groin. This may be referred to as type 1, whereas less severe cases might be called type 2. LCH is inherited in an autosomal recessive manner and is caused by mutations in the LHCGR gene.Although there is no specific treatment or cure for LCH, there may be ways to manage the symptoms. A team of doctors or specialists is often needed to figure out the treatment options for each person." "" + "fetal iodine syndrome" "Fetal iodine syndrome refers to symptoms and signs that may be observed in a fetus or newborn when the mother was exposed during pregnancy to inappropriate (insufficient or excessive) amounts of iodine. Iodine deficiency is associated with goiter and hypothyroidism. When severe iodine deficiency occurs during pregnancy, it is associated with congenital hypothyroidism that is manifested by increased neonatal morbi-mortality and severe mental dysfunction, hyperactivity, attention disorders and a substantial decrease of IQ of an irreversible nature. Excessive iodine ingestion during the third trimester of pregnancy can result in hypothyroidism and fetal goiter due to a prolonged inhibition of thyroid hormone synthesis, an increase in thyrotropin (TSH)." "" + "teratogenic Pierre Robin syndrome" "" + "transient congenital hypothyroidism due to maternal factor" "" + "toxic or drug-related embryofetopathy" "Congenital abnormalities caused by medicinal substances or drugs of abuse given to or taken by the mother, or to which she is inadvertently exposed during the manufacture of such substances. The concept excludes abnormalities resulting from exposure to non-medicinal chemicals in the environment." "" + "fever, familial lifelong persistent" "" + "fibrochondrogenesis 1" "Any fibrochondrogenesis in which the cause of the disease is a mutation in the COL11A1 gene." "" + "fibrochondrogenesis" "Fibrochondrogenesis is a rare, neonatally lethal, rhizomelic chondrodysplasia. Eleven cases have been reported. The face is distinctive and characterized by protuberant eyes, flat midface, flat small nose with anteverted nares and a small mouth with long upper lip. Cleft palate, micrognathia and bifid tongue can occur. The limbs show marked shortness of all segments with relatively normal hands and feet. No internal anomalies other than omphalocele have been reported. Transmission is probably autosomal recessive. Recurrence in a consanguineous family (affecting both sexes) and concordance of affected male twins have been reported." "" + "myofibromatosis, infantile, 1" "Any myofibromatosis in which the cause of the disease is a mutation in the PDGFRB gene." "" + "infantile myofibromatosis" "A benign, multifocal, nodular and well-circumscribed neoplasm usually seen as a congenital neoplasm or in the first year of life. It is characterized by a biphasic growth pattern and is composed of small, undifferentiated mesenchymal cells associated with branching thin-walled vessels and more mature neoplastic spindle cells with abundant eosinophilic cytoplasm in a collagenous stroma." "" + "gingival fibromatosis-facial dysmorphism syndrome" "Gingival fibromatosis - facial dysmorphism is a very rare syndrome characterized by the association of gingival fibromatosis and craniofacial dysmorphism." "" + "hyaline fibromatosis syndrome" "" + "fibrosclerosis, multifocal" "" + "IgG4-related retroperitoneal fibrosis" "Retroperitoneal fibrosis (RPF) is characterized by the development of a fibrotic mass surrounding retroperitoneal structures, such as aorta, vena cava, ureters and psoas muscle." "" + "fibular hypoplasia and complex brachydactyly" "" + "Fuhrmann syndrome" "Fuhrmann syndrome is mainly characterized by bowing of the femora, aplasia or hypoplasia of the fibulae and poly-, oligo-, and syndactyly." "" + "Fibulo-ulnar hypoplasia-renal anomalies syndrome" "Fibulo-ulnar hypoplasia-renal anomalies syndrome is characterized by fibuloulnar dysostosis with renal anomalies. It has been described in two sibs born to nonconsanguinous parents. The syndrome is lethal at birth (respiratory failure). Clinical manifestations include ear and facial anomalies (including micrognathia), symmetrical shortness of long bones, fibular agenesis and hypoplastic ulna, oligosyndactyly, congenital heart defects, and cystic or hypoplastic kidney. It is transmitted as an autosomal recessive trait." "" + "congenital high-molecular-weight kininogen deficiency" "A rare autosomal recessive inherited disorder characterized by prolonged partial thromboplastin time and absence of bleeding diathesis." "" + "familial benign flecked retina" "Familial benign flecked retina is a rare retinal dystrophy characterized by diffuse bilateral white-yellow fleck-like lessions extending to the far periphery of the retina but sparing the foveal region, with asymptomatic clinical phenotype and absence of electrophysiologic deficits." "" + "Kandori fleck retina" "Kandori fleck retina is a rare, genetic retinal dystrophy characterized by irregular, sharply defined, yellowish-white lesions of variable size that are distributed mainly in the nasal equatorial region of the retina, with a tendency to confluence, that are not associated with any vascular or optic nerve abnormalities. They frequently manifest as mild and stationary night blindness." "" + "focal epithelial hyperplasia" "Hyperplasia characterized by the presence of a focal proliferation of epithelial cells." "" + "hereditary folate malabsorption" "Hereditary folate malabsorption (HFM) is an inherited disorder of folate transport characterized by a systemic and central nervous system (CNS) folate deficiency manifesting as megaloblastic anemia, failure to thrive, diarrhea and/or oral mucositis, immunologic dysfunction and neurological disorders." "" + "intestinal disease due to vitamin absorption anomaly" "" + "disorder of folate metabolism and transport" "" + "syndrome with combined immunodeficiency" "True" + "constitutional megaloblastic anemia due to folate metabolism disorder" "True" + "hypogonadotropic hypogonadism 24 without anosmia" "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FSHB gene." "" + "formiminoglutamic aciduria" "Formiminoglutamic aciduria, in its moderate form and in the absence of histidine administration, is characterized by mild developmental delay and elevated concentrations of formiminoglutamate (FIGLU) in the urine. A more severe phenotype has been described in five members of a Japanese family and included severe intellectual deficit, psychomotor retardation and megaloblastic anemia." "" + "fountain syndrome" "Fountain syndrome is an extremely rare multi-systemic genetic disorder characterized by intellectual disability, deafness, skeletal abnormalities and coarse facial features." "" + "brittle cornea syndrome" "Brittle cornea syndrome is a form of Ehlers-Danlos syndrome characterized by a severe ocular manifestations due to extreme corneal thinning and fragility with rupture in the absence of significant trauma, and progression to blindness. Extraocular manifestations comprise deafness, developmental hip dysplasia, and joint hypermobility." "" + "Fraser-like syndrome" "" + "Freesia Flowers, inability to smell" "" + "obsolete Friedreich ataxia" "" "true" + "Friedreich ataxia and congenital glaucoma" "" + "frontofacionasal dysplasia" "Fronto-facio-nasal dysostosis is characterized by multiple craniofacial anomalies (brachycephaly, blepharophimosis, ptosis, S-shaped palpebral fissures, coloboma, cleft lip and palate, deformed nostrils, encephalocele, hypertelorism, midface hypoplasia, malformed eyes, and absent inner eyelashes)." "" + "fructose and galactose intolerance" "" + "hereditary fructose intolerance" "Hereditary fructose intolerance (HFI) is an autosomal recessive disorder of fructose metabolism, resulting from a deficiency of hepatic fructose-1-phosphate aldolase activity and leading to gastrointestinal disorders and postprandial hypoglycemia following fructose ingestion. HFI is a benign condition when treated, but it is life-threatening and potentially fatal if left untreated." "" + "disorder of fructose metabolism" "" + "fructose utilization" "True" + "fructose-1,6-bisphosphatase deficiency" "Fructose-1,6-biphosphatase (FBP) deficiency is a disorder of fructose metabolism characterized by recurrent episodes of fasting hypoglycemia with lactic acidosis, that may be life-threatening in neonates and infants." "" + "gluconeogenesis disorder" "An acquired metabolic disease that is has its basis in the disruption of gluconeogenesis." "" + "essential fructosuria" "Essential fructosuria is a rare autosomal recessive disorder of fructose metabolism caused by a deficiency of fructokinaseenzyme activity. It is characterized by elevated fructosemia and presence of fructosuria following ingestion of fructose and related sugars (sucrose, sorbitol). Essential fructosuria is clinically asymptomatic and harmless. Dietary restriction is not indicated." "" + "Fryns syndrome" "Fryns syndrome (FS) is a multiple congenital anomaly syndrome characterized by dysmorphic facial features, congenital diaphragmatic hernia, pulmonary hypoplasia, and distal limb hypoplasia, in addition to variable expression of additional malformations." "" + "fucosidosis" "Fucosidosis is an extremely rare lysosomal storage disorder characterized by a highly variable phenotype with common manifestations including neurologic deterioration, coarse facial features, growth retardation, and recurrent sinopulmonary infections, as well as seizures, visceromegaly, angiokeratoma and dysostosis." "" + "galactokinase deficiency" "Galactokinase deficiency is a rare mild form of galactosemia characterized by early onset of cataract and an absence of the usual signs of classic galactosemia, i.e. feeding difficulties, poor weight gain and growth, lethargy, and jaundice." "" + "galactosemia" "Galactosemia is a group of rare genetic metabolic disorders characterized by impaired galactose metabolism resulting in a range of variable manifestations encompassing a severe, life-threatening disease (classic galactosemia), a rare mild form (galactokinase deficiency) causing cataract, and a very rare form with variable severity (galactose epimerase deficiency) resembling classic galactosemia in the severe form." "" + "galactorrhea" "Excessive or inappropriate lactation in females or males, and not necessarily related to pregnancy. Galactorrhea can occur either unilaterally or bilaterally, and be profuse or sparse. Its most common cause is hyperprolactinemia." "" + "galactose epimerase deficiency" "Galactose epimerase deficiency is a very rare, moderate to severe form of galactosemia characterized by moderate to severe signs of impaired galactose metabolism." "" + "classic galactosemia" "Classic galactosemia is a life-threatening metabolic disease with onset in the neonatal period. Infants usually develop feeding difficulties, lethargy, and severe liver disease." "" + "gamma-glutamylcysteine synthetase deficiency" "Gamma-glutamylcysteine synthetase deficiency is principally characterized by hemolytic anemia, (usually rather mild), however, the presence of neurological symptoms has also been reported." "" + "inherited glutathione metabolism disease" "An acquired metabolic disease that is has its basis in the disruption of glutathione metabolic process." "" + "GM1 gangliosidosis type 1" "GM1 gangliosidosis type 1 is the severe infantile form of GM1 gangliosidosis with variable neurological and systemic manifestations." "" + "GM1 gangliosidosis" "A rare lysosomal storage disorder characterized biochemically by deficient beta-galactosidase activity and clinically by a wide range of variable neurovisceral, ophthalmological and dysmorphic features." "" + "GM1 gangliosidosis type 2" "GM1 gangliosidosis type 2 is a clinically variable, infancy or childhood-onset form of GM1 gangliosidosis characterized by normal early development and psychomotor regression between seven months and three years of age." "" + "GM1 gangliosidosis type 3" "GM1 gangliosidosis type 3 is a mild, chronic, adult form of GM1 gangliosidosis characterized by onset generally during childhood or adolescence and by cerebellar dysfunction." "" + "gapo syndrome" "GAPO syndrome is a multiple congenital anomalies (MCA) syndrome involving connective tissue characterized by Growth retardation, Alopecia, Pseudoanodontia and Ocular manifestations" "" + "gastroschisis" "Gastroschisis is marked by viscera protruding, without a covering sac, from the fetal abdomen on the right lateral base of the umbilicus. It is due to defective embryo growth and other malformations are only exceptionally associated." "" + "primary short bowel syndrome" "" + "Gaucher disease type I" "Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD) characterized by organomegaly, bone involvement and cytopenia." "" + "lysosomal disease with restrictive cardiomyopathy" "True" + "Gaucher disease" "Gaucher disease (GD) is a lysosomal storage disorder encompassing three main forms (types 1, 2 and 3), a fetal form and a variant with cardiac involvement (Gaucher disease - ophthalmoplegia - cardiovascular calcification or Gaucher-like disease)." "" + "secondary avascular necrosis" "" + "avascular necrosis of genetic origin" "An instance of avascular necrosis that is caused by a modification of the individual's genome." "" + "Gaucher disease type II" "Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2." "" + "secondary interstitial lung disease specific to childhood associated with a metabolic disease" "True" + "Gaucher disease type III" "Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1." "" + "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome" "Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement." "" + "geleophysic dysplasia 1" "Any geleophysic dysplasia in which the cause of the disease is a mutation in the ADAMTSL2 gene." "" + "genito-palato-cardiac syndrome" "Genitopalatocardiac syndrome is a rare, multiple congenital anomalies/dysmorphic syndrome characterized by male, 46,XY gonadal dysgenesis, cleft palate, micrognathia, conotruncal heart defects and unspecific skeletal, brain and kidney anomalies." "" + "geroderma osteodysplastica" "Geroderma osteodysplastica (GO) is characterized by lax and wrinkled skin (especially on the dorsum of the hands and feet and abdomen), progeroid features, hip dislocation, joint laxity, severe short stature/dwarfism, severe osteoporosis, vertebral abnormalities and spontaneous fractures, and developmental delay and mild intellectual deficit." "" + "German syndrome" "German syndrome is an autosomal recessive arthrogryposis syndrome, described in 5 cases. Three of the four known families with affected children were Ashkenazi Jews. German syndrome is characterized by arthrogryposis, hypotonia-hypokinesia sequence, and lymphedema. Patients present distinct craniofacial appearance (tall forehead and ''carp''-shaped mouth, cleft palate), contractures, severe hypotonia manifesting as motor delay, and swallowing difficulties. The disease has a severe morbidity and mortality rate and survivors present a small stature, hypotonia, frequent upper respiratory infections, and psychomotor delay. There have been no further descriptions in the literature since 1987." "" + "fetal trimethadione syndrome" "Fetal trimethadione syndrome is a drug-related embryofetopathy that can occur when an embryo/fetus is exposed to trimethadione and that is characterized by pre- and post-natal growth retardation, intellectual deficit, developmental and speech delay, craniofacial anomalies (with some similarities to those seen in fetal valproate syndrome), and less commonly, cleft palate, malformations of the heart, urogenital system and limbs. Trimethadione is an antiepileptic drug that has been removed from the market in Europe and is no longer used much in other countries due to teratogenicity and potential side effects." "" + "hydatidiform mole, recurrent, 1" "Any complete hydatidiform mole in which the cause of the disease is a mutation in the NLRP7 gene." "" + "complete hydatidiform mole" "Complete hydatidiform mole is a type of hydatiform mole characterized by abnormal hyperplastic trophoblasts and hydropic villi due to fertilization of an enucleated ovocyte by one or two haploid spermatozoa that can manifest with vaginal bleeding accompanied by nausea and frequent vomiting, hyperemesis gravidarum, risk of spontaneous miscarriage, hyperthyroidism, and has the potential of developing into choriocarcinoma." "" + "gestational trophoblastic neoplasm" "A diverse group of pregnancy-related tumors characterized by excessive proliferation of trophoblasts. Representative examples include hydatidiform mole, gestational choriocarcinoma, and placental site trophoblastic tumor." "" + "ghosal hematodiaphyseal dysplasia" "Ghosal hematodiaphyseal dysplasia syndrome (GHDD) is a rare disorder characterized by increased bone density (predominantly diaphyseal) and aregenerative corticosteroid-sensitive anemia." "" + "neonatal hemochromatosis" "Neonatal hemochromatosis is a disease in which too much iron builds up inthe body. In this form of hemochromatosis the iron overload begins before birth. This disease tends to progress rapidly and is characterized by liver damage that is apparent at birth or in the first day of life. There are a number of other forms of hemochromatosis. To learn more about these other forms click on the disease names listed below: Hemochromatosis type 1 Hemochromatosis type 2 Hemochromatosis type 3 Hemochromatosis type 4" "" + "isolated hereditary giant platelet disorder" "" + "glaucoma 3A" "An autosomal recessive form of congenital glaucoma caused by mutation(s) in the CYP1B1 gene, encoding cytochrome P450 1B1." "" + "obsolete hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency" "" "true" + "triple-A syndrome" "Triple A syndrome is a very rare multisystem disease characterized by adrenal insufficiency with isolated glucocorticoid deficiency, achalasia, alacrima, autonomic dysfunction and neurodegeneration." "" + "monosodium glutamate sensitivity" "" + "glutaryl-CoA dehydrogenase deficiency" "Glutaryl-CoA dehydrogenase (GCDH) deficiency (GDD) is an autosomal recessive neurometabolic disorder clinically characterized by encephalopathic crises resulting in striatal injury and a severe dystonic dyskinetic movement disorder." "" + "multiple acyl-CoA dehydrogenase deficiency" "A disorder of fatty acid and amino acid oxidation, caused by mutations in ETFDH, ETFA, or ETFB, and is a clinically heterogeneous disorder ranging from a severe neonatal presentation with metabolic acidosis, cardiomyopathy and liver disease, to a mild childhood/adult disease with episodic metabolic decompensation, muscle weakness, and respiratory failure." "" + "mitochondrial disease with hypertrophic cardiomyopathy" "True" + "glutaric acidemia type 3" "Glutaryl-CoA oxidase deficiency is a peroxisomal disorder leading to glutaric aciduria. The prevalence is unknown. There is no distinctive phenotype associated with this disorder and one of the reported cases was asymptomatic. Transmission appears to be autosomal recessive." "" + "glutathione synthetase deficiency without 5-oxoprolinuria" "" + "inherited glutathione synthetase deficiency" "Glutathione synthetase deficiency is characterised by hemolytic anemia, associated with metabolic acidosis and 5-oxoprolinuria in moderate forms, and with progressive neurological symptoms and recurrent bacterial infections in the most severe forms." "" + "gamma-glutamyl transpeptidase deficiency" "Gamma-glutamyl transpeptidase deficiency is characterized by increased glutathione concentration in the plasma and urine." "" + "inborn disorder of the gamma-glutamyl cycle" "" + "gluteal muscles, absence of" "" + "glycogen storage disease due to glucose-6-phosphatase deficiency type IA" "Glycogenosis due to glucose-6-phosphatase deficiency (G6P) type a, or glycogen storage disease (GSD) type 1a, is a type of glycogenosis due to G6P deficiency." "" + "glycogen storage disease Ib" "A type of glycogenosis due to G6P deficiency." "" + "glycogen storage disease type 1 due to SLC37A4 mutation" "Any glycogen storage disease due to glucose-6-phosphatase deficiency in which the cause of the disease is a mutation in the SLC37A4 gene." "" + "obsolete glycogen storage disease IC" "" "true" + "glycogen storage disease II" "Glycogen storage disease due to acid maltase deficiency (AMD) is an autosomal recessive trait leading to metabolic myopathy that affects cardiac and respiratory muscles in addition to skeletal muscle and other tissues. AMD represents a wide spectrum of clinical presentations caused by an accumulation of glycogen in lysosomes: Glycogen storage disease due to acid maltase deficiency, infantile onset, non-classic infantile onset and adult onset. Early onset forms are more severe and often fatal." "" + "muscular glycogenosis" "" + "lysosomal glycogen storage disease" "" + "glycogen storage disease III" "Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy." "" + "glycogen storage disease due to glycogen branching enzyme deficiency" "Glycogen branching enzyme (GBE) deficiency (Andersen's disease or amylopectinosis), or glycogen storage disease type 4 (GSD4), is a rare and severe form of glycogen storage disease which accounts for approximately 3% of all the glycogen storage diseases." "" + "glycogen storage disease V" "Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5), is a severe form of glycogen storage disease characterized by exercise intolerance." "" + "glycogen storage disease VI" "Liver phosphorylase deficiency, or glycogen storage disease type 6b (Hers' disease, GSD 6b) is a benign and rare form of glycogen storage disease." "" + "glycogen storage disease VII" "Muscle phosphofructokinase (PFK) deficiency (Tarui's disease), or glycogen storage disease type 7 (GSD7), is a rare form of glycogen storage disease characterized by exertional fatigue and muscular exercise intolerance. It occurs in childhood." "" + "glycoprotein storage disease" "" + "familial renal glucosuria" "Familial Renal Glucosuria (FRG) is characterized by the presence of persistent isolated glucosuria in the absence of both generalized proximal tubular dysfunction and hyperglycemia. FRG is usually considered a benign entity as most patients are not affected by severe clinical consequences. Polyuria and enuresis and later a mild growth and pubertal maturation delay are the only manifestations that have been reported during a follow-up period of 30 years. Episodic dehydration and ketosis during pregnancy and starvation and an increased incidence of urinary tract infections have occasionally been reported in severe cases. FRG is caused by loss-of-function mutations in the gene SLC5A2 (16p11.2)." "" + "GOMBO syndrome" "" + "46 XX gonadal dysgenesis" "46,XX gonadal dysgenesis (46,XX GD) is a primary ovarian defect leading to premature ovarian failure (POF) in otherwise normal 46,XX females as a result of failure of the gonads to develop or due to resistance to gonadotrophin stimulation." "" + "46,XX disorder of gonadal development" "" + "female infertility due to gonadal dysgenesis" "True" + "Perrault syndrome 1" "Any Perrault syndrome in which the cause of the disease is a mutation in the HSD17B4 gene." "" + "Perrault syndrome" "Perrault syndrome (PS) is characterized by the association of ovarian dysgenesis in females with sensorineural hearing impairment. In more recent PS reports, some authors have described neurologic abnormalities, notably progressive cerebellar ataxia and intellectual deficit." "" + "46,XY sex reversal 7" "" + "XY type gonadal dysgenesis-associated anomalies syndrome" "Gonadal dysgenesis with multiple anomalies is an association syndrome described only once in two sisters aged 1 1/2 and 8 1/2 years. They had a 46,XY karyotype, cleft lip and palate, preauricular pits, and a 'squashed down' appearance because of a short columella and small nares. Other anomalies included broad hands and feet, and a hypermuscular appearance. Cardiac, renal, musculoskeletal, and ectodermal anomalies were also present. Ectodermal defects included 'punched out scalp defects' and unusual positioning of hair whorls. They also had short stature, streak gonads, and mild developmental delay. The mode of inheritance is most likely autosomal recessive." "" + "46,XY disorder of sex development" "Differences of sex development in individuals with 46,XY karyotype." "" + "anti-glomerular basement membrane disease" "An autoimmune disease that affects the lungs and kidneys and is characterized by pulmonary alveolar hemorrhage (bleeding in the lungs) and a kidney disease known as glomerulonephritis. Some use the term 'Goodpasture syndrome' for the findings of glomerulonephritis and pulmonary hemorrhage and the term 'Goodpasture disease' for those patients with glomerulonephritis, pulmonary hemorrhage, and anti-GBM antibodies. Currently, the preferred term for both conditions is “ anti-GBM antibody disease ”. Circulating antibodies are directed against the collagen of the part of the kidney known as the glomerular basement membrane (GBM), resulting in acute or rapidly progressive glomerulonephritis. Antibodies also attack the collagen of the air sacs of the lung (alveoli) resulting in bleeding of the lung (pulmonary hemorrhage). Symptoms may include general body discomfort or pain, bleeding from the nose and/or blood in the urine, respiratory problems, anemia, chest pain, and kidney failure. Anti-GBM disease is thought to result from an environmental insult (smoking, infections, exposure to certain drugs) in a person with genetic susceptibility, such as a specific human leukocyte antigen (HLA) type. Diagnosis is confirmed with the presence of anti-GBM antibody in the blood or in the kidney. The treatment of choice is plasmapheresis in conjunction with prednisone and cyclophosphamide." "" + "predominantly small-vessel vasculitis" "" + "secondary interstitial lung disease in childhood and adulthood associated with a systemic disease" "True" + "obsolete Gorlin-Chaudhry-Moss syndrome" "" "true" + "granulocytopenia with immunoglobulin abnormality" "" + "combined immunodeficiency with skin granulomas" "" + "granulomatous disease with defect in neutrophil chemotaxis" "" + "chronic granulomatous disease" "Chronic granulomatous disease (CGD) is a rare primary immunodeficiency, mainly affecting phagocytes, which is characterized by an increased susceptibility to severe and recurrent bacterial and fungal infections, along with the development of granulomas." "" + "granulomatous disease, chronic, autosomal recessive, cytochrome b-negative" "" + "granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1" "Any chronic granulomatous disease in which the cause of the disease is a mutation in the NCF1 gene." "" + "granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2" "Any chronic granulomatous disease in which the cause of the disease is a mutation in the NCF2 gene." "" + "grouped pigmentation of the retina" "" + "lipodystrophy due to peptidic growth factors deficiency" "Deficiency of the peptidic growth factors is characterized by loss of subcutaneous fat layers on the limbs, lipodystrophy in the face and trunk and scleroderma-like skin disorders (thickened skin on the palms and soles and skin pigment changes on the limbs and trunk)." "" + "Grubben-de Cock-Borghgraef syndrome" "Grubben-de Cock-Borghgraef syndrome is a rare intellectual disability syndrome characterized by pre- and postnatal growth deficiency, generalized muscular hypotonia, developmental delay (particularly of speech and language), hypotrophy of distal extremities, small and puffy hands and feet, eczematous skin and dental anomalies (i.e. small, widely-spaced teeth). Partial agenesis of the corpus callosum and a selective immunoglobulin IgG2 subclass deficiency have also been reported in some patients." "" + "obsolete GTP-cyclohydrolase I deficiency" "" "true" + "congenital factor XII deficiency" "Congenital factor XII deficiency is an autosomal recessive systemic dysfunction of the hemostatic pathway, that is due to a defect in the coagulation factor XII (FXII or Hageman factor), and is either asymptomatic or characterized by a prolonged activated partial thromboplastin time and an increased risk for thromboembolism. FXII deficiency is strongly associated with primary recurrent abortions." "" + "hair defect-photosensitivity-intellectual disability syndrome" "Calderon-Gonzalez-Cantu syndrome is characterized by the association of stubby, coarse, sparse and fragile hair, eyebrows and eyelashes with photosensitivity and nonprogressive intellectual deficit without a demonstrable metabolic aberration." "" + "obsolete nonphotosensitive trichothiodystrophy" "A trichothiodystrophy that is non-photosensitive" "" "true" + "Hallermann-Streiff syndrome" "Hallermann-Streiff syndrome is a rare genetic syndrome characterized mainly by head and facial abnormalities such as bird-like facies (with beak-shaped nose and retrognathia), hypoplastic mandible, brachycephaly with frontal bossing, dental abnormalities (e.g. absence of teeth, natal teeth, supernumerary teeth, severe agenesis of permanent teeth, enamel hypoplasia) hypotrichosis, various ophthalmic disorders (e.g. congenital cataracts, bilateral microphthalmia, ptosis, nystagmus) and atrophy of skin (especially around the center of face and nose) as well as telangiectasia and proportionate short stature. Intellectual disability is reported in some cases." "" + "malformation syndrome with short stature" "True" + "obsolete congenital absence of the eyebrow/eyelashes" "" "true" + "obsolete craniofacial anomaly with cataract" "" "true" + "pantothenate kinase-associated neurodegeneration" "Pantothenate kinase-associated neurodegeneration (PKAN) is the most common type of neurodegeneration with brain iron accumulation (NBIA), a rare neurodegenerative disorder characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation on the brain and axonal spheroids in the central nervous system." "" + "disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement" "True" + "neurodegeneration with brain iron accumulation" "Neurodegeneration with brain iron accumulation (NBIA, formerly Hallervorden-Spatz syndrome) encompasses a group of rare neurodegenerative disorders characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation in the brain and the presence of axonal spheroids, usually limited to the central nervous system." "" + "Hall-Riggs syndrome" "Hall-Riggs syndrome is a very rare syndrome consisting of microcephaly with facial dysmorphism, spondylometaepiphyseal dysplasia and severe intellectual deficit." "" + "hallux varus-preaxial polysyndactyly syndrome" "Hallux varus-preaxial polysyndactyly syndrome is a rare, genetic, congenital limb malformation disorder characterized by bilateral medial displacement of the hallux and preaxial polysyndactyly of the first toes. Radiographs show broad, shortened, misshapen first metatarsals and may associate incomplete or complete duplication of proximal phalanges and duplication or triplication of distal phalanges. There have been no further descriptions in the literature since 1980." "" + "obsolete halo nevi" "" "true" + "Halothane hepatitis" "" + "Hartnup disease" "Hartnup disease is a rare metabolic disorder belonging to the neutral aminoacidurias and characterized by abnormal renal and gastrointestinal transport of neutral amino acids (tryptophan, alanine, asparagine, glutamine, histidine, isoleucine, leucine, phenylalanine, serine, threonine, tyrosine and valine)." "" + "disorder of neutral amino acid transport" "An acquired metabolic disease that is has its basis in the disruption of neutral amino acid transport." "" + "obsolete deafness-enamel hypoplasia-nail defects syndrome" "" "true" + "congenital heart block" "Heart block that occurs on or before 28 days of life." "" + "heart, malformation of" "" + "hemangiomatosis, cutaneous, with associated features" "" + "pulmonary venoocclusive disease 2" "A rare form of pulmonary arterial hypertension (PAH) characterized by a capillary infiltration of the pulmonary interstitium, bronchioles and pleura leading to elevated pulmonary arterial resistance and right heart failure. PCH is potentially fatal." "" + "pulmonary venoocclusive disease" "A disorder characterized by pulmonary venous constriction or occlusion, resulting in pulmonary hypertension." "" + "isolated hemihyperplasia" "Isolated hemihyperplasia is a rare overgrowth syndrome characterized by an asymmetric regional body overgrowth, involving at least one limb, and associated with an increased risk of developing embryonal tumors, principally nephroblastoma and hepoblastoma." "" + "mullerian derivatives-lymphangiectasia-polydactyly syndrome" "Mullerian derivatives-lymphangiectasia-polydactyly syndrome is characterised by prenatal linear growth deficiency, hypertrophied alveolar ridges, redundant nuchal skin, postaxial polydactyly and cryptorchidism. Mullerian duct remnants, lymphangiectasis, and renal anomalies are also present. Three cases have been described. A small penis was observed in two of these cases. The syndrome is likely to be an autosomal recessive or X-linked trait. All the reported patients died neonatally of hepatic failure." "" + "hemolytic anemia with thermal sensitivity of red cells" "" + "hemolytic uremic syndrome, atypical, susceptibility to, 1" "" + "atypical hemolytic-uremic syndrome" "Atypical hemolytic-uremic syndrome (aHUS) is a thrombotic microangiopathy characterized by mechanical hemolytic anemia, thrombocytopenia, and renal dysfunction." "" + "hemosiderosis, pulmonary, with deficiency of gamma-a globulin" "" + "Hennekam lymphangiectasia-lymphedema syndrome 1" "Any Hennekam syndrome in which the cause of the disease is a mutation in the CCBE1 gene." "" + "Hennekam syndrome" "Hennekam syndrome is characterised by the association of lymphoedema, intestinal lymphangiectasia, intellectual deficit and facial dysmorphism." "" + "hepatic veno-occlusive disease-immunodeficiency syndrome" "Hepatic veno-occlusive disease-immunodeficiency syndrome is characterized by the association of severe hypogammaglobulinemia, combined T and B cell immunodeficiency, absent lymph node germinal centers, absent tissue plasma cells and hepatic veno-occlusive disease." "" + "hepatic veno-occlusive disease" "Hepatic veno-occlusive disease (hepatic VOD) is a condition resulting from toxic injury to the hepatic sinusoidal capillaries that leads to obstruction of the small hepatic veins." "" + "congenital bile acid synthesis defect 2" "Congenital bile acid synthesis defect type 2 (BAS defect type 2) is an anomaly of bile acid synthesis characterized by severe and rapidly progressive cholestatic liver disease, and malabsorption of fat and fat-soluble vitamins." "" + "non-spherocytic hemolytic anemia due to hexokinase deficiency" "Nonspherocytic hemolytic anemia due to hexokinase deficiency (NSHA due to HK1 deficiency) is a very rare conditionmainly characterized by severe, chronic hemolysis, beginning in infancy. Approximately 20 cases of this condition have been described to date. Signs and symptoms of hexokinase deficiency are very similar to those of pyruvate kinase deficiency but anemia is generally more severe. Some affected individuals reportedly have had various abnormalities in addition to NSHA including multiple malformations, panmyelopathy, and latent diabetes.Itcan be caused by mutations in the HK1 gene and is inherited in an autosomal recessive manner. Treatment may include red cell transfusions for those with severe anemia." "" + "Mowat-Wilson syndrome" "Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly syndrome characterized by a distinct facial phenotype, intellectual disability, epilepsy, Hirschsprung disease (HSCR) and variable congenital malformations." "" + "monogenic epilepsy" "" + "Hirschsprung disease-hearing loss-polydactyly syndrome" "An extremely rare malformative association, described in only two siblings to date, and characterized by Hirschsprung disease (defined by the presence of an aganglionic segment of variable extent in the terminal part of the colon that leads to the symptoms of intestinal obstruction including constipation and abdominal distension), polydactyly of hands and/or feet, unilateral renal agenesis, hypertelorism and congenital deafness. There have been no further descriptions in the literature since 1988." "" + "intestinal motility disease" "A disease that has its basis in the disruption of intestinal motility." "" + "Hirschsprung disease with ulnar polydactyly, polysyndactyly of big toes, and ventricular septal defect" "" + "Hirschsprung disease-nail hypoplasia-dysmorphism syndrome" "Hirschsprung disease - nail hypoplasia - dysmorphism is a fatal malformative disorder that is characterized by Hirschsprung disease, hypoplastic nails, distal limb hypoplasia and minor craniofacial dysmorphic features (flat facies, upward slanting palpebral fissures, narrow philtrum, narrow, high arched palate, micrognathia, low set ears with abnormal helices). Hydronephrosis has also been reported. There have been no further descriptions of Hirschsprung disease - nail hypoplasia - dysmorphism syndrome in the literature since 1988." "" + "histidinemia" "Histidinemia is a rare metabolic disorder characterized by elevated histidine levels in blood, urine, and cerebrospinal fluid, generally with no clinical repercussions." "" + "inborn disorder of histidine metabolism" "An acquired metabolic disease that is has its basis in the disruption of histidine metabolic process." "" + "histidinuria due to a renal tubular defect" "" + "familial lipochrome histiocytosis" "" + "nodular lymphocyte predominant Hodgkin lymphoma" "A monoclonal B-cell neoplasm characterized by a nodular, or a nodular and diffuse proliferation of scattered large neoplastic cells known as popcorn or lymphocyte predominant cells (LP cells)- formerly called L&H cells for lymphocytic and/or histiocytic Reed-Sternberg cell variants. The LP cells lack CD15 and CD30 in nearly all instances. Patients are predominantly male, frequently in the 30-50 year age group. Most patients present with limited stage disease (localized peripheral lymphadenopathy, stage I or II). (WHO 2008)" "" + "holoprosencephaly 1" "The most severe form of holoprosencephaly in which there is a complete absence of midline forebrain division resulting in the presence of fused hemispheres and a single ventricle (alobar holoprosencephaly). It is mapped to chromosome 21q22." "" + "Holzgreve-Wagner-Rehder syndrome" "A syndrome characterized by Potter sequence, heart defect, cleft palate, polydactyly, and skeletal defects." "" + "classic homocystinuria" "Classical homocystinuria due to cystathionine beta-synthase (CbS) deficiency is characterized by the multiple involvement of the eye, skeleton, central nervous system, and vascular system." "" + "homocystinuria due to methylene tetrahydrofolate reductase deficiency" "Homocystinuria due to methylene tetrahydrofolate reductase (MTHFR) deficiency is a metabolic disorder characterised by neurological manifestations." "" + "methylcobalamin deficiency type cblE" "An autosomal recessive condition caused by mutation(s) in the MTRR gene, encoding methionine synthase reductase. It is characterized by homocystinuria and megaloblastic anemia." "" + "homocystinuria without methylmalonic aciduria" "Homocystinuria without methylmalonic aciduria is an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, encephalopathy and, sometimes, developmental delay, and associated with homocystinuria and hyperhomocysteinemia. There are three types of homocystinuria without methylmalonic aciduria; cblE, cblG and cblD-variant 1 (cblDv1)." "" + "Hooft disease" "" + "autosomal recessive humeroradial synostosis" "Autosomal recessive form of humeroradial synostosis (disease)." "" + "humeroradial synostosis with craniofacial anomalies" "" + "Hutterite cerebroosteonephrodysplasia syndrome" "" + "multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome" "" + "hydrocephalus, nonsyndromic, autosomal recessive 1" "Any congenital hydrocephalus in which the cause of the disease is a mutation in the CCDC88C gene." "" + "congenital hydrocephalus" "Hydrocephalus that is present at birth." "" + "autosomal recessive hydrocephalus due to congenital stenosis of aqueduct of Sylvius" "" + "X-linked hydrocephalus with stenosis of the aqueduct of Sylvius" "A form of L1 syndrome caused by changes in the L1CAM gene characterized by severe hydrocephalus mostly with prenatal onset, signs of intracranial hypertension, adducted thumbs, spasticity, and severe intellectual deficit. HSAS represents the severe end of the spectrum and is associated with poor prognosis." "" + "growth delay-hydrocephaly-lung hypoplasia syndrome" "Growth delay - hydrocephaly - lung hypoplasia, also named Game-Friedman-Paradice syndrome, is a rare developmental disorder described in 4 sibs so far and characterized by delayed fetal growth, hydrocephaly with patent aqueduct of Sylvius, underdeveloped lungs and various other anomalies such as small jaw, intestinal malrotation, omphalocele, shortness of lower limbs, bowed tibias and foot deformities." "" + "hydrocephaly-tall stature-joint laxity syndrome" "Hydrocephaly-tall stature-joint laxity syndrome is a multiple congenital anomalies syndrome described in two sisters and characterized by the presence of hydrocephalus (onset in infancy), tall stature, joint laxity, and thoracolumbar kyphosis. There have been no further descriptions in the literature since 1989." "" + "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1" "An autosomal recessive muscular dystrophy caused by mutations in the POMT1 gene, encoding protein O-mannosyl-transferase 1. It is associated with characteristic brain and eye malformations, profound mental retardation, and early death." "" + "myopathy caused by variation in POMT1" "Any myopathy in which the cause of the disease is a variation in the POMT1 gene." "" + "hydrolethalus syndrome 1" "Any hydrolethalus syndrome in which the cause of the disease is a mutation in the HYLS1 gene." "" + "normal pressure hydrocephalus" "A form of compensated hydrocephalus characterized clinically by a slowly progressive gait disorder (see gait disorders, neurologic), progressive intellectual decline, and urinary incontinence. Spinal fluid pressure tends to be in the high normal range. This condition may result from processes which interfere with the absorption of csf including subarachnoid hemorrhage, chronic meningitis, and other conditions. (From Adams et al., Principles of Neurology, 6th ed, pp631-3)" "" + "McKusick-Kaufman syndrome" "McKusick-Kaufman syndrome is a very rare, genetic developmental disorder presenting in the neonatal period characterized by genitourinary malformations, polydactyly, and more rarely, congenital heart disease or gastrointestinal malformations." "" + "urofacial syndrome type 1" "" + "non-immune hydrops fetalis" "Non-immune hydrops fetalis (NIHF), a form of HF, is a severe fetal condition defined as the excessive accumulation of fetal fluid within the fetal extravascular compartments and body cavities, and is the end-stage of a wide variety of disorders." "" + "hydrops fetalis" "Hydrops fetalis is a severe and challenging fetal condition usually defined as the excessive accumulation of fetal fluid within the fetal extravascular compartments and body cavities that manifests as edema, pleural and pericardial effusion and ascites. It is the end-stage of a wide variety of disorders. The cause may be immunologic (immune hydrops fetalis, IHF) or non immunologic (non-immune hydrops fetalis, NIHF), depending on the presence or absence of maternal antibodies against fetal red cell antigens (ABO incompatibility or rhesus (Rh) incompatibility)." "" + "L-2-hydroxyglutaric aciduria" "L-2-hydroxyglutaric aciduria is a primarily neurological form of 2-hydroxyglutaric aciduria characterized by psychomotor retardation, cerebellar ataxia and variable macrocephaly or epilepsy." "" + "2-hydroxyglutaric aciduria" "2-Hydroxyglutaric aciduria is a group of neurometabolic disorders with a wide clinical spectrum ranging from severe neonatal presentations to progressive forms, and asymptomatic cases, characterized biochemically by increased levels of 2-hydroxyglutaric acid in the plasma, cerebrospinal fluid and urine." "" + "3-hydroxyisobutyric aciduria" "3 hydroxyisobutyric aciduria is characterised by ketoacidotic episodes, cerebral anomalies and facial dysmorphism. It is an organic aciduria that involves valine metabolism. Thirteen cases have been described in the literature so far. Transmission is thought to be autosomal recessive." "" + "valine metabolism disease" "A disease that has its basis in the disruption of valine metabolic process." "" + "encephalopathy due to hydroxykynureninuria" "Encephalopathy due to hydroxykynureninuria is characterised by psychomotor retardation and nonprogressive encephalopathy associated with urinary excretion of large amounts of kynurenine, 3-hydroxykynurenine, and xanthurenic acid. It has been described in less than 30 patients. Other manifestations may include muscular hypertonia, headaches and stereotyped gestures. This disorder is transmitted as an autosomal recessive trait. It is caused by a defect in kynureninase, an enzyme of the tryptophane catabolic pathway." "" + "inborn disorder of tryptophan metabolism" "An acquired metabolic disease that is has its basis in the disruption of tryptophan metabolic process." "" + "seizures-intellectual disability due to hydroxylysinuria syndrome" "Seizures-intellectual disability due to hydroxylysinuria syndrome is characterised by hydroxylysinuria, myoclonic and motor seizures and intellectual deficit. It has been described in a brother and sister born to consanguineous parents and in one unrelated patient." "" + "hydroxyprolinemia" "" + "hymen, imperforate" "" + "carbamoyl phosphate synthetase I deficiency disease" "Carbamoyl-phosphate synthetase 1 deficiency (CPS1D) is a rare and severe disorder of urea cycle metabolism most commonly characterized by either a neonatal-onset of severe hyperammonemia that occurs few days after birth and manifests with lethargy, vomiting, hypothermia, seizures, coma and death or a presentation outside the newborn period at any age with (sometimes) milder symptoms of hyperammonemia." "" + "hyperammonemia due to N-acetylglutamate synthase deficiency" "N-acetylglutamate synthase (NAGS) deficiency is a urea cycle disorder leading to hyperammonaemia." "" + "hyper-beta-alaninemia" "Hyperbetaalaninemia is a very rare metabolic condition.Hyperbetaalaninemia refers to thebuild-upof protein building blocks, called beta amino acids, in the body. The excess beta amino acidsare neurotoxic to the body. Signs and symptoms of hyperbetaalaninemia includeconvulsions (rapid and uncontrollable shaking), lethargy, and encephalopathy.Hyperbetaalaninemia is thought to be due to a loss ofa functional form of the enzyme,beta-alanine-alpha-ketoglutarate transaminase.Treatment with oral pyridoxine wasdemonstrated to be helpful in one case." "" + "Rotor syndrome" "Rotor syndrome (RT) is a benign, inherited liver disorder characterized by chronic, predominantly conjugated, nonhemolytic hyperbilirubinemia with normal liver histology." "" + "Dubin-Johnson syndrome" "Dubin-Johnson syndrome (DJS) is a benign, inherited liver disorder characterized clinically by chronic, predominantly conjugated, hyperbilirubinemia and histopathologically by black-brown pigment deposition in parenchymal liver cells." "" + "hyperbilirubinemia, conjugated, type 3" "" + "hyperbilirubinemia, shunt, primary" "" + "transient familial neonatal hyperbilirubinemia" "" + "Leydig cell hypoplasia, type 1" "Any Leydig cell hypoplasia in which the cause of the disease is a mutation in the LHCGR gene." "" + "hyperleucine-Isoleucinemia" "" + "hyperlexia" "" + "familial lipoprotein lipase deficiency" "Familial lipoprotein lipase deficiency is a rare genetic disorder is which a person lacks the enzyme lipoprotein lipase, a protein needed to break down fat molecules. Deficiency of this enzyme prevents affected individuals from properly digesting certain fats. This results in the accumulation of fatty droplets called chylomicrons in the blood and an increase in the blood concentration of triglycerides. Symptoms include episodes of abdominal pain, recurrent inflammation of the pancreas (pancreatitis), abnormal enlargement of the liver and/or spleen (hepatosplenomegaly), and the development of skin lesions known as erruptive xanthomas. Familial lipoprotein lipase deficiency is caused by changes (mutations) in the LPL gene. It is inherited in an autosomal recessive pattern. Treatment aims to control symptoms and blood triglyceride levels with a very low-fat diet. Treatment for individual symptoms (i.e. pancreatitis) involves following established treatment guidelines." "" + "hyperlysinemia" "Hyperlysinaemia is a lysine metabolism disorder characterised by elevated levels of lysine in the cerebrospinal fluid and blood. Variable degrees of saccharopinuria are also present." "" + "hyperlysinemia due to defect in lysine transport into mitochondria" "" + "hyperlysinuria with hyperammonemia" "" + "hypermetabolism due to defect in mitochondria" "" + "hyperopia, high" "" + "ornithine translocase deficiency" "Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (triple H syndrome) is a disorder of urea cycle metabolism characterized by either a neonatal-onset with manifestations of lethargy, poor feeding, vomiting and tachypnea or, more commonly, presentations in infancy, childhood or adulthood with chronic neurocognitive deficits, acute encephalopathy and/or chronic liver dysfunction." "" + "juvenile Paget disease" "Juvenile Paget disease is a very rare form of Paget disease of the bone characterized by a general increase in bone turnover with increased bone resorption and deposition, resulting in cortical and trabecular thickening, and clinically presenting as progressive skeletal deformities, growth impairment, fractures, vertebral collapse, skull enlargement and sensorineural hearing loss." "" + "hyperostosis corticalis generalisata" "Hyperostosis corticalis generalisata, also known as van Buchem disease, is a rare craniotubular hyperostosis characterized by hyperostosis of the skull, mandible, clavicles, ribs and diaphyses of the long bones, as well as the tubular bones of the hands and feet. Clinical manifestations include increased skull thickness with cranial nerve entrapment causing inconsistent cranial nerve palsies." "" + "hyperparathyroidism, neonatal self-limited primary, with hypercalciuria" "" + "neonatal severe primary hyperparathyroidism" "Neonatal severe primary hyperparathyroidism (NSHPT) is characterized by severe hypercalcemia (> 3.5 mM) from birth and associated with major hyperparathyroidism." "" + "primary bone dysplasia with defective bone mineralization" "True" + "hyperphosphatasia with intellectual disability syndrome 1" "Any hyperphosphatasia-intellectual disability syndrome in which the cause of the disease is a mutation in the PIGV gene." "" + "hyperphosphatasia-intellectual disability syndrome" "" + "hyperphosphatemia, polyuria, and seizures" "" + "hyperprolinemia type 1" "Hyperprolinaemia type I is an inborn error of proline metabolism characterised by elevated levels of proline in the plasma and urine. The prevalence is unknown. The disorder is generally considered to be benign but associations with renal abnormalities, epileptic seizures, and other neurological manifestations, as well as certain forms of schizophrenia have been reported. It is transmitted as an autosomal recessive trait and is caused by mutations in the proline dehydrogenase or proline oxidase gene (PRODH or POX, 22q11.2)." "" + "hyperprolinemia" "Hyperprolinemia is when there isan excess of a particular protein building block (amino acid), called proline, in the blood. This condition generally occurs when proline is not broken down properly by the body. There are two inherited forms:hyperprolinemia type1 and hyperprolinemia type 2. People with hyperprolinemia type I often do not show any symptoms, although they have proline levels in their blood between 3 and 10 times the normal level. Less commonly, affected individuals can experience seizures, intellectual disability, or other neurological or psychiatric problems. Hyperprolinemia is caused by mutations in the PRODH gene and is inherited in an autosomal recessive pattern." "" + "hyperprolinemia type 2" "Hyperprolinemia type 2 is an autosomal recessive proline metabolism disorder due to pyroline-5-carboxylate dehydrogenase deficiency. The condition is often benign but clinical signs may include seizures, intellectual deficit and mild developmental delay." "" + "acrofrontofacionasal dysostosis 2" "A very rare syndrome associating an acro-fronto-facio-nasal dysostosis with genitourinary anomalies." "" + "hypertelorism and tetralogy of fallot" "" + "hypertelorism, microtia, facial clefting syndrome" "Hypertelorism-microtia-facial clefting syndrome, or HMC syndrome, is a very rare syndrome characterized by the combination of hypertelorism, cleft lip and palate and microtia." "" + "cervical hypertrichosis-peripheral neuropathy syndrome" "Cervical hypertrichosis peripheral neuropathy is a rare syndrome characterized by the association of congenital hypertrichosis in the anterior cervical region with peripheral sensory and motor neuropathy. It has been described in three members of the same family and in one unrelated boy. Associated features in the familial cases include retinal anomalies, spina bifida, kyphoscoliosis and hallux valgus, while that in the non-familial case includes developmental delay. An autosomal recessive mode of inheritance is suggested. There have been no further descriptions in the literature since 1993." "" + "hypertrichotic osteochondrodysplasia Cantu type" "Cantu syndrome is a rare disorder characterized by congenital hypertrichosis, osteochondrodysplasia, cardiomegaly, and dysmorphism." "" + "hypertrophic neuropathy and cataract" "" + "hyperuricemia, infantile, with abnormal behavior and normal hypoxanthine guanine phosphoribosyltransferase" "" + "hypervitaminosis a, susceptibility to" "" + "obsolete Addison disease" "" "true" + "autoimmune polyendocrine syndrome type 1" "Autoimmune polyendocrinopathy type 1, or APECED syndrome, is a genetic disease that manifests in childhood or early adolescence with a combination of chronic mucocutaneous candidiasis, hypoparathyroidism and autoimmune adrenal failure." "" + "autoimmune polyendocrinopathy" "A group of diverse conditions that are characterized by spontaneous, multi-organ autoimmunity, which target both endocrine (adrenal, gonad, pancreatic islet cells, parathyroid, pituitary, thyroid) and non-endocrine (gastrointestinal, integumentary, lymphatic) tissues." "" + "genetic hypoparathyroidism" "Genetic hypoparathyroidism." "" + "autoimmune hypoparathyroidism" "An autoimmune form of hypoparathyroidism." "" + "acquired chronic primary adrenal insufficiency" "An instance of chronic primary adrenal insufficiency that is acquired during the lifetime of the individual." "" + "acquired primary ovarian failure" "An instance of primary ovarian failure that is acquired during the lifetime of the individual." "" + "scurvy" "Scurvy is a condition that develops in people who do not consume an adequate amount of vitamin C in their diet. Although scurvy is relatively rare in the United States, it continues to be a problem in malnourished populations around the world (such as impoverished, underdeveloped third world countries). Early features of the condition include general weakness, fatigue and aching limbs. If left untreated, more serious problems can develop such as anemia, gum disease, and skin hemorrhages. Symptoms generally develop after at least 3 months of severe or total vitamin C deficiency. Scurvy can be cured with vitamin C supplements taken by mouth. Once recovery is complete, dietary modifications to ensure the 'recommended daily intake' of vitamin C is reached will prevent relapse. Except in the case of severe dental disease, permanent damage from scurvy does not usually occur." "" + "immunodeficiency, common variable, 2" "" + "glycogen storage disorder due to hepatic glycogen synthase deficiency" "Glycogen synthetase deficiency, or glycogen storage disease (GSD) type 0, is a genetically inherited anomaly of glycogen metabolism and a form of GSD characterized by fasting hypoglycemia. This is not a glycogenosis, strictly speaking, as the enzyme deficiency decreases glycogen reserves." "" + "hypoglycemia, leucine-induced" "" + "hypoinsulinemic hypoglycemia and body hemihypertrophy" "" + "hypergonadotropic hypogonadism-cataract syndrome" "This syndrome is characterized by the association of hypergonadotropic hypogonadism and cataracts with onset during adolescence. It has been described in three brothers from a consanguineous family." "" + "hypogonadism with low-grade mental deficiency and microcephaly" "" + "Woodhouse-Sakati syndrome" "Woodhouse-Sakati syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia." "" + "primary hypergonadotropic hypogonadism-partial alopecia syndrome" "This syndrome is characterized by primary hypergonadotropic hypogonadism and partial alopecia." "" + "hypogonadism, male" "" + "hypohidrosis with abnormal palmar dermal Ridges" "" + "hypokalemic alkalosis, familial, with specific renal tubulopathy" "" + "Bartter disease type 2" "Any Bartter syndrome in which the cause of the disease is a mutation in the KCNJ1 gene." "" + "Bartter syndrome" "Bartter syndrome is a group of rare renal tubular disease characterized by impaired salt reabsorption in the thick ascending limb of Henle's loop and clinically by the association of hypokalemic alkalosis, hypercalciuria/nephrocalcinosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II." "" + "antenatal Bartter syndrome" "A phenotypic variant of Bartter syndrome presenting antenatally with maternal polyhydramnios, pre-term delivery and postnatally with polyuria, and nephrocalcinosis. Hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II are characteristically associated. Genotypically they comprise Type 1 and Type 2 Bartter syndrome." "" + "hypomandibular faciocranial dysostosis" "Hypomandibular faciocranial dysostosis is a cranial malformation characterized by facial dysmorphism (proptosis, frontal bossing, midface and zygomatic arches hypoplasia, short nose with anteverted nostrils, microstomia with persistent buccopharyngeal membrane, severe hypoglossia with glossoptosis, severe mandibular hypoplasia, and low set ears) associated with laryngeal hypoplasia and craniosynostosis. Other variable features include cleft palate, optic nerve coloboma and choanal stenosis." "" + "hypoparathyroidism-retardation-dysmorphism syndrome" "Sanjad-Sakati syndrome (SSS), also known as hypoparathyroidism - intellectual disability-dysmorphism, is a rare multiple congenital anomaly syndrome, mainly occurring in the Middle East and the Arabian Gulf countries, characterized by intrauterine growth restriction at birth, microcephaly, congenital hypoparathyroidism (that can cause hypocalcemic tetany or seizures in infancy), severe growth retardation, typical facial features (long narrow face, deep-set eyes, beaked nose, floppy and large ears, long philtrum, thin lips and micrognathia), and mild to moderate intellectual deficiency. Ocular findings (i.e. nanophthalmos, retinal vascular tortuosity and corneal opacification/clouding) and superior mesenteric artery syndrome have also been reported. Although SSS shares the same locus with the autosomal recessive form of Kenny-Caffey syndrome, the latter differs from SSS by its normal intelligence and skeletal features." "" + "obsolete infantile hypophosphatasia" "Infantile hypophosphatasia (I-HPP) is a very rare, severe form of hypophosphatasia characterized by infantile rickets without elevated serum alkaline phosphatase (ALP) activity and a wide range of clinical manifestations due to hypomineralization." "" "true" + "obsolete childhood hypophosphatasia" "Childhood-onset hypophosphatasia is a rare, mildform of hypophosphatasia characterized by onset after six months of age and widely variable clinical features from low bone mineral density for age, to unexplained fractures,skeletal deformities,and rickets with short stature and waddling gait." "" "true" + "hypophosphatemia, renal, with intracerebral calcifications" "" + "hypophosphatemic rickets, autosomal recessive, 1" "Any autosomal recessive hypophosphatemic rickets in which the cause of the disease is a mutation in the DMP1 gene." "" + "autosomal recessive hypophosphatemic rickets" "Autosomal recessive hypophosphatemic rickets (ARHR) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia and slow growth." "" + "hereditary hypophosphatemic rickets with hypercalciuria" "Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia and hypercalciuria associated with rickets and/or osteomalacia." "" + "hypopituitarism, congenital, with central diabetes insipidus" "" + "hypoplastic left heart syndrome 1" "Any hypoplastic left heart syndrome in which the cause of the disease is a mutation in the GJA1 gene." "" + "hypoproteinemia, hypercatabolic" "" + "MHC class I deficiency" "Immunodeficiency by defective expression of HLA class 1 is a very rare, primary, genetic, immunodeficiency disorder characterized by partial or complete absence of human leukocyte antigen class I expression resulting in a non-specific clinical picture of impaired immune response and susceptibility to infections." "" + "hypospadias-intellectual disability, Goldblatt type syndrome" "Hypospasdias B intellectual deficit, Goldblatt type is a very rare multiple congenital anomalies syndrome described in three brothers of one South-African family, and characterized by hypospadias and intellectual deficit, in association with mirocephaly, craniofacial dysmorphism, joint laxity and beaked nails." "" + "congenital hypothalamic hamartoma syndrome" "Hypothalamic hamartomas (HH) are rare, tumor-like malformations that occur during fetal development and are present at birth. The lesions usually do not change in size or spread to other locations. Both the type and severity of symptoms vary greatly among patients with hypothalamic hamartomas. Common symptoms include frequent gelastic seizures (spontaneous laughing, giggling and/or smirking) or dacrystic seizures (crying or grunting); developmental delays; and/or precocious puberty. Additional symptoms may include cognitive impairment; emotional and behavioral difficulties; and endocrine disturbances. These symptoms often start early in life but are frequently misdiagnosed. For some patients, endocrine (hormonal) disturbances such as central precocious puberty may be the only symptom. These patients can often be treated successfully with medications. For some, however, HH can be disabling. For those with HH and epilepsy, it is common for the disorder to progress and for different types of seizures to develop. The seizures associated with HH often cannot be well-controlled with the standard seizure medications. For some, additional treatment such as surgical removal, radiosurgery, or thermoablation may be indicated. Though hypothalamic hamartomas can occur in patients with certain genetic disorders (such as Pallister-Hall syndrome), the majority of cases are sporadic." "" + "Bamforth-Lazarus syndrome" "Bamforth-Lazarus syndrome is a very rare syndrome of congenital hypothyroidism characterized by thyroid dysgenesis (in most cases athyreosis), cleft palate and spiky hair, with or without choanal atresia, and bifid epiglottis. Facial dysmorphism and porencephaly have been reported in isolated cases." "" + "hypouricemia, hypercalcinuria, and decreased bone density" "" + "autosomal recessive congenital ichthyosis 2" "An autosomal recessive condition caused by mutation(s) in the ALOX12B gene, encoding arachidonate 12-lipoxygenase, 12R-type. It is characterized by dry, thickened, scaly skin." "" + "self-healing collodion baby" "Self-healing collodion baby (SHCB) is a minor variant of autosomal recessive congenital ichthyosis (ARCI) characterized by the presence of a collodion membrane at birth that heals within the first weeks of life." "" + "congenital non-bullous ichthyosiform erythroderma" "A variant of autosomal recessive congenital ichthyosis (ARCI), a rare epidermal disease, characterized by fine, whitish scales on a background of erythematous skin over the whole body." "" + "ichthyosiform erythroderma, corneal involvement, and hearing loss" "" + "autosomal recessive congenital ichthyosis 1" "Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the TGM1 gene." "" + "autosomal recessive congenital ichthyosis" "Autosomal recessive form of inherited ichthyosis." "" + "ichthyosis congenita with biliary atresia" "" + "autosomal recessive congenital ichthyosis 4B" "Harlequin ichthyosis (HI) is the most severe variant of autosomal recessive congenital ichthyosis (ARCI). It is characterized at birth by the presence of large, thick, plate-like scales over the whole body associated with severe ectropion, eclabium, and flattened ears, that later develops into a severe scaling erythroderma." "" + "autosomal recessive congenital ichthyosis 4A" "Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the ABCA12 gene." "" + "ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome" "Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome is an ectodermal dysplasia syndrome characterized by severe generalized lamellar icthyosis at birth with alopecia, eclabium, ectropion and intellectual disability. Although similar to Sjogren-Larsson syndrome, this syndrome lacks the presence of neurologic or macular changes. There have been no further descriptions in the literature since 1987." "" + "ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome" "Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome is characterised by ichthyosis, hepatosplenomegaly and late-onset cerebellar ataxia. It has been described in two brothers. Transmission is either autosomal recessive or X-linked." "" + "ichthyosis-intellectual disability-dwarfism-renal impairment syndrome" "Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome is characterised by nonbullous congenital ichthyosis, intellectual deficit, dwarfism and renal impairment. It has been described in four members of one Iranian family. Transmission is autosomal recessive." "" + "ichthyosis, split hairs, and amino aciduria" "" + "iminoglycinuria" "Iminoglycinuria is a metabolic disorder resulting from defective renal tube reabsorption of proline, hydroxyproline and glycine. The prevalence is estimated at around 1 in 15 000. The disorder is usually asymptomatic and is identified fortuitously by detection of increased levels of the imino acids and glycine in the urine. It is transmitted as an autosomal recessive trait." "" + "ciliary dyskinesia with defective radial spokes" "" + "ciliary dyskinesia with excessively long cilia" "" + "Nezelof syndrome" "" + "Vici syndrome" "A very rare and severe congenital multisystem disorder characterized by the principal features of agenesis of the corpus callosum, cataracts, oculocutaneous hypopigmentation, cardiomyopathy and combined immunodeficiency." "" + "immunodeficiency-centromeric instability-facial anomalies syndrome 1" "Any immunodeficiency-centromeric instability-facial anomalies syndrome in which the cause of the disease is a mutation in the DNMT3B gene." "" + "immunodeficiency, partial combined, with absence of HLA Determinants and beta-2-microglobulin from lymphocytes" "" + "Immunoerythromyeloid hypoplasia" "" + "reticular dysgenesis" "Reticular dysgenesis is the most severe form of severe combined immunodeficiency (SCID) and is characterized by bilateral sensorineural deafness and a lack of innate and adaptive immune functions leading to fatal septicemia within days after birth if not treated." "" + "immunoglobulin d level in plasma, low" "" + "Schimke immuno-osseous dysplasia" "Schimke immuno-osseous dysplasia (SIOD) is a multisystem disorder characterized by spondyloepiphyseal dysplasia and disproportionate short stature, facial dysmorphism, T-cell immunodeficiency, and glomerulonephritis with nephrotic syndrome." "" + "immuno-osseous dysplasia" "" + "channelopathy-associated congenital insensitivity to pain, autosomal recessive" "A syndrome characterized by indifference to pain despite the ability to distinguish noxious from non-noxious stimuli. Absent corneal reflexes and intellectual disability may be associated. Familial forms with autosomal recessive and autosomal dominant patterns of inheritance have been described. (Adams et al., Principles of Neurology, 6th ed, p1343)" "" + "indolylacroyl glycinuria with intellectual disability" "" + "male infertility due to large-headed multiflagellar polyploid spermatozoa" "Male infertility due to large-headed multiflagellar polypoid spermatozoa is a male infertility due to sperm disorder characterized by the presence, in sperm, of a very high percentage of spermatozoa with enlarged head, irregular head shape, multiple flagella, and abnormal midpiece and acrosome. It is generally associated with severe oligoasthenozoospermia and a high rate of sperm chromosomal abnormalities (polyploidy, aneuploidy)." "" + "male infertility with teratozoospermia due to single gene mutation" "Male infertility with teratozoospermia due to single gene mutation is a rare, genetic male infertility due to sperm disorder characterized by the presence of spermatozoa with abnormal morphology, such as macrozoospermia or globozoospermia, in over 85% of sperm, resulting from mutation in a single gene known to cause teratozoospermia. It is a heterogeneous group that includes a wide range of abnormal sperm phenotypes affecting, solely or simultaneously, head, neck, midpiece, and/or tail." "" + "inosine phosphorylase deficiency, immune defect due to" "" + "internal carotid arteries, hypoplasia of" "" + "immunodeficiency with defective T-cell response to interleukin 1" "" + "multiple intestinal atresia" "A rare form of intestinal atresia characterized by the presence of numerous atresic segments in the small bowel (duodenum) or large bowel and leading to symptoms of intestinal obstruction: vomiting, abdominal bloating and inability to pass meconium in newborns." "" + "obsolete neuronal intestinal pseudoobstruction" "" "true" + "natal teeth-intestinal pseudoobstruction-patent ductus syndrome" "" + "pseudotumor cerebri" "Idiopathic intracranial hypertension is a neurological disorder characterized by isolated increased intracranial pressure manifesting with recurrent and persistent headaches, nausea, vomiting, progressive and transient obstruction of the visual field, papilledema. Visual loss can be irreversible." "" + "benign recurrent intrahepatic cholestasis type 1" "Benign recurrent intrahepatic cholestasis 1 (BRIC1) is characterized by episodes of liver dysfunction called cholestasis, during which the liver cells have a reduced ability to release a digestive fluid called bile. These episodes can last from weeks to months, and the time between them, during which there are usually no symptoms, can vary from weeks to years.Most people with BRIC1have their first episode of cholestasisintheir teens or twenties. Symptoms oftenpresent with severe itchiness, followed by yellowing of the skin and whites of the eyes (jaundice) a few weeks later. BRIC1 is caused by mutations in the ATP8B1 gene. This condition is inherited in an autosomal recessive pattern.BRIC1generally does not cause lasting damage to the liver. However, in rare cases, episodes of liver dysfunction may develop into a more severe, permanent form of liver disease known as progressive familial intrahepatic cholestasis (PFIC). BRIC and PFIC are sometimes considered to be part of a spectrum of intrahepatic cholestasis disorders of varying severity." "" + "benign recurrent intrahepatic cholestasis" "Benign recurrent intrahepatic cholestasis (BRIC) is a hereditary liver disorder characterized by intermittent episodes of intrahepatic cholestasis, generally without progression to chronic liver damage. BRIC is now believed to belong to a clinical spectrum of intrahepatic cholestatic disorders that ranges from the mild intermittent attacks in BRIC to the severe, chronic and progressive cholestasis seen in progressive familial intrahepatic cholestasis (PFIC)." "" + "Baraitser-Winter syndrome 1" "Any Baraitser-Winter cerebrofrontofacial syndrome in which the cause of the disease is a mutation in the ACTB gene." "" + "Baraitser-Winter cerebrofrontofacial syndrome" "Baraitser-Winter syndrome (BWS) is a malformation syndrome, characterized by facial dysmorphism (hypertelorism with ptosis, broad bulbous nose, ridged metopic suture, arched eyebrows, progressive coarsening of the face), ocular coloboma, pachygyria and/or band heterotopias with antero-posterior gradient, progressive joint stiffening, and intellectual deficit of variable severity, often with severe epilepsy. Pachygyria - epilepsy - intellectual disability - dysmorphism (Fryns-Aftimos syndrome (FA)) corresponds to the appearance of BWS in elderly patients." "" + "intrinsic factor and r binder, combined congenital deficiency of" "" + "hereditary intrinsic factor deficiency" "Congenital intrinsic factor deficiency (IFD) is a rare disorder of vitamin B12 (cobalamin) absorption that is characterized by megaloblastic anemia and neurological abnormalities." "" + "acetylation, slow" "" + "isotretinoin-like syndrome" "Isotretinoin-like syndrome is a phenocopy of the isotretinoin embryopathy." "" + "isovaleric acid, inability to smell" "" + "isovaleric acidemia" "Isovaleric acidemia (IVA) is an autosomal recessively inherited organic aciduria characterized by a deficiency in isovaleryl-CoA dehydrogenase, that has wide clinical variability and that can present in infancy with acute manifestations of vomiting, failure to thrive, seizures, lethargy, a characteristic ''sweaty feet'' odor, acute pancreatitis and mild to severe developmental delay or in childhood with metabolic acidosis (brought on by prolonged fasting, an increased intake of protein-rich food or infections) and that can be fatal if not treated immediately. Chronic intermittent presentations and asymptomatic patients have also been reported." "" + "atresia of small intestine" "Atresia of small intestine is a special form of intestinal atresia with absence of mesentery, which is most likely due to an intrauterine intestinal vascular accident. Newborns are usually preterm infants with low birth-weights, that encounter feeding difficulties (including vomiting with initial feeds, which may later worsened and the abdomen becomes progressively distended) as well as failure to thrive. Affected children present disrupted bowel loops assuming a spiral configuration resembling an 'apple peel' and may have less than half of the normal length of the small bowel and a physiologically short bowel. Atresia of small intestine is characterized by jejunal atresia near the ligament of Treitz, foreshortened bowel, and a large mesenteric gap. The bowel distal to the atresia is precariously supplied. Atresia of small intestine may be a manifestation of cystic fibrosis. The most important cause of mortality is short bowel syndrome, encountered in 65% of cases." "" + "Stromme syndrome" "An autosomal recessive congenital disorder affecting multiple systems with features of a ciliopathy. Affected individuals typically have some type of intestinal atresia, variable ocular abnormalities, microcephaly, and sometimes involvement of other systems, including renal and cardiac. In some cases, the condition is lethal in early life, whereas other patients show normal survival with or without mild cognitive impairment (summary by Filges et al., 2016)." "" + "nephropathy-associated ciliopathy" "" + "combined immunodeficiency due to DOCK8 deficiency" "Combined immunodeficiency due to dedicator of cytokinesis 8 protein (DOCK8) deficiency is a form of T and B cell immunodeficiency characterized by recurrent cutaneous viral infections, susceptibility to cancer and elevated serum levels of immunoglobulin E (IgE)." "" + "Johanson-Blizzard syndrome" "A multiple congenital anomaly characterized by exocrine pancreatic insufficiency, hypoplasia/aplasia of the nasal alae, hypodontia, sensorineural hearing loss, growth retardation, anal and urogenital malformations, and variable intellectual disability." "" + "Joubert syndrome with oculorenal defect" "Joubert syndrome with oculorenal defect is a rare subtype of Joubert syndrome and related disorders (JSRD) characterized by the neurological features of JS associated with both renal and ocular disease." "" + "Jumping Frenchmen of Maine" "" + "hypogonadotropic hypogonadism 3 with or without anosmia" "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the PROKR2 gene." "" + "kapur-Toriello syndrome" "Kapur-Toriello syndrome is an extremely rare syndrome characterized by facial dysmorphism, severe intellectual deficiency, cardiac and intestinal anomalies, and growth retardation." "" + "primary ciliary dyskinesia 1" "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAI1 gene." "" + "oculocerebrofacial syndrome, Kaufman type" "" + "autosomal recessive Kenny-Caffey syndrome" "An autosomal recessive form of Kenny-Caffey syndrome due to mutation(s) in the TBCE gene, encoding tubulin-specific chaperone E. This condition is characterized by hypoparathyroidism with hypocalcemia, marked growth retardation, craniofacial anomalies, absent diploic space in the skull, cortical thickening of long bones with medullary stenosis, and small hands and feet." "" + "keratoconus and congenital hip dysplasia" "" + "keratoconus posticus circumscriptus" "" + "hereditary palmoplantar keratoderma, Gamborg-Nielsen type" "Hereditary palmoplantar keratoderma, Gamborg-Nielsen type is characterised by the presence of diffuse palmoplantar keratoderma without associated symptoms. The syndrome has been described in multiple families from the northernmost county of Sweden (Norrbotten). The palmoplantar keratoderma found in the Gamborg-Nielsen type disease is milder than that found in Mal de Meleda but more severe than that found in Thost-Unna palmoplantar keratoderma. Transmission is autosomal recessive." "" + "autosomal recessive isolated diffuse palmoplantar keratoderma" "Autosomal recessive form of isolated diffuse palmoplantar keratoderma." "" + "Papillon-Lefevre disease" "Papillon-Lefevre syndrome (PLS) is a rare ectodermal dysplasia characterized by palmoplantar keratoderma associated with early-onset periodontitis." "" + "functional neutrophil defect" "" + "Haim-Munk syndrome" "Haim-Munk syndrome (HMS) is characterized by palmoplantar hyperkeratosis, severe early-onset periodontitis, onychogryposis, pes planus, arachnodactyly and acroosteolysis." "" + "succinyl-CoA:3-ketoacid CoA transferase deficiency" "Succinyl-CoA:3-ketoacid CoA transferase deficiency (SCOTD) is a defect in ketone body utilization characterized by severe, potentially fatal intermittent episodes of ketoacidosis." "" + "Richards-Rundle syndrome" "Richards-Rundle syndrome is an extremely rare neurodegenerative disorder characterized by progressive spinocerebellar ataxia, sensorineural hearing loss, and hypergonadotropic hypogonadism associated with additional neurological manifestations (such as peripheral muscle wasting, nystagmus, intellectual disability or dementia) and ketoaciduria." "" + "obsolete Ketoadipicaciduria" "" "true" + "Keutel syndrome" "Keutel syndrome is characterised by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism." "" + "Kniest-like dysplasia with pursed lips and ectopia lentis" "" + "Kifafa seizure disorder" "" + "lethal Kniest-like dysplasia" "Lethal Kniest-like dysplasia is a severe lethal skeletal dysplasia. It has been described in two sibs (one male and one female) born to nonconsanguineous parents. It is characterized by dumbbell-shaped long bones with markedly shortened diaphyses and metaphyseal irregularities." "" + "Krabbe disease" "A lysosomal disorder that affects the white matter of the central and peripheral nervous systems. It includes infantile, late-infantile/juvenile and adult forms." "" + "kuru, susceptibility to" "" + "metabolic myopathy due to lactate transporter defect" "Metabolic myopathy due to lactate transporter defect is a rare metabolic myopathy characterized by muscle cramping and/or stiffness after exercise (especially during heat exposure), post-exertional rhabdomyolysis and myoglobinuria, and elevation of serum creatine kinase." "" + "pyruvate dehydrogenase E2 deficiency" "Pyruvate dehydrogenase E2 deficiency is a very rare form of pyruvate dehydrogenase deficiency (PDHD) characterized by variable lactic acidosis and neurological dysfunction, mainly appearing during childhood." "" + "pyruvate dehydrogenase deficiency" "Pyruvate dehydrogenase deficiency (PDHD) is a rare neurometabolic disorder characterized by a wide range of clinical signs with metabolic and neurological components of varying severity. Manifestations range from often fatal, severe, neonatal lactic acidosis to later-onset neurological disorders. Six subtypes related to the affected subunit of the PDH complex have been recognized with significant clinical overlap: PDHD due to E1-alpha, E1-beta, E2 and E3 deficiency, PDHD due to E3-binding protein deficiency, and PDH phosphatase deficiency." "" + "pyruvate dehydrogenase E3-binding protein deficiency" "Pyruvate dehydrogenase E3-binding protein deficiency is a rare mild form of pyruvate dehydrogenase deficiency (PDHD) characterized by variable lactic acidosis and neurological dysfunction." "" + "mitochondrial DNA depletion syndrome 9" "Fatal infantile lactic acidosis with methylmalonic aciduria is a rare neurometabolic disease characterized by infantile onset of severe encephalomyopathy, lactic acidosis and elevated methylmalonic acid urinary excretion. Clinically it manifests with severe psychomotor delay, hypotonia, failure to thrive, feeding difficulties and dystonia. Epilepsy and multiple congenital anomalies may be associated." "" + "mitochondrial DNA depletion syndrome, encephalomyopathic form" "Mitochondrial DNA depletion syndrome, encephalomyopathic form is a group of mitochondrial DNA maintenance syndrome diseases characterized by predominantly neuromuscular manifestations with typically infantile onset of hypotonia, lactic acidosis, psychomotor delay, progressive hyperkinetic-dystonic movement disorders, external ophtalmoplegia, sensosineural hearing loss, generalized seizures and variable renal tubular dysfunction. It may be associated with a broad range of other clinical features." "" + "lactic aciduria due to D-lactic acid" "" + "specific granule deficiency" "" + "defective phagocytic cell engulfment" "" + "Lambert syndrome" "Lambert syndrome is a very rare syndrome described in four sibs of one French family and characterized by branchial dysplasia (malar hypoplasia, macrostomia, preauricular tags and meatal atresia), club feet, inguinal herniae and cholestasis due to paucity of interlobular bile ducts and intellectual deficit." "" + "Lambotte syndrome" "" + "obsolete Laron syndrome with immunodeficiency" "" "true" + "Larsen-like syndrome, B3GAT3 type" "Larsen-like syndrome, B3GAT3 type is a rare, genetic, primary bone dysplasia characterized by laxity, dislocations and contractures of the joints, short stature, foot deformities (e.g. clubfeet), broad tips of fingers and toes, short neck, dysmorphic facial features (hypertelorism, downslanting palpebral fissures, upturned nose with anteverted nares, high arched palate) and various cardiac malformations. Severe disease is associated with multiple fractures, osteopenia, arachnodactyly and blue sclerae. A broad spectrum of additional features, including scoliosis, radio-ulnar synostosis, mild developmental delay, and various eye disorders (glaucoma, amblyopia, hyperopia, astigmatism, ptosis), are also reported." "" + "lethal Larsen-like syndrome" "Larsen-like syndrome, lethal type, is characterised by multiple joint dislocation and respiratory insufficiency due to tracheomalacia and/or lung hypoplasia. It has been described in less than ten patients. Transmission is thought to be autosomal recessive. Brain dysplasia has been described in some patients and could result from systemic hypoxic-ischemic insults during the second half of pregnancy, although genetic factors have not been ruled out." "" + "laryngo-onycho-cutaneous syndrome" "LOC syndrome is a subtype of junctional epidermolysis bullosa (JEB) characterized by an altered cry in the neonatal period and by aberrant production of granulation tissue in particular affecting the upper airway tract, conjunctiva and periungual/subungual sites." "" + "Laurence-Moon syndrome" "A very rare genetic multisystemic disorder characterized by pituitary dysfunction, ataxia, peripheral neuropathy, spastic paraplegia, and chorioretinal dystrophy." "" + "Norum disease" "Familial LCAT (lecithin-cholesterol acyltransferase) deficiency (FLD) is a form of lecithin-cholesterol acyltransferase deficiency (LCAT) characterized clinically by corneal opacities, hemolytic anemia, and renal failure, and biochemically by severely decreased HDL cholesterol and complete deficiency of the LCAT enzyme." "" + "absence deformity of leg-cataract syndrome" "Absence deformity of leg B cataract is a very rare syndromic limb malformation described in two distantly related boys. It is characterized by absence deformity of the left leg, progressive scoliosis, short stature, congenital cataract associated with dysplasia of the optic nerve. No intellectual deficit has been observed." "" + "Donohue syndrome" "Leprechaunism is a congenital form of extreme insulin resistance (a group of syndromes that also includes Rabson-Mensenhall syndrome, type A insulin-resistance syndrome, and acquired type B insulin-resistance syndrome) characterized by intrauterine and mainly postnatal severe growth retardation." "" + "leprosy, susceptibility to, 3" "Any leprosy in which the cause of the disease is a mutation in the TLR2 gene." "" + "letterer-Siwe disease" "A multifocal, multisystem form of Langerhans-cell histiocytosis. There is involvement of multiple organ systems including the bones, skin, liver, spleen, and lymph nodes. Patients are usually infants presenting with fever, hepatosplenomegaly, lymphadenopathy, bone and skin lesions, and pancytopenia." "" + "Langerhans cell histiocytosis specific to childhood" "Langerhans cell histiocytosis that occurs during childhood." "" + "3-hydroxy-3-methylglutaric aciduria" "3-hydroxy-3-methylglutaric aciduria (3HMG) is an organic aciduria, due to deficiency of 3-hydroxy-3-methylglutaryl-CoA-lyase (a key enzyme in ketogenesis and leucine metabolism) usually presenting in infancy with episodes of metabolic decompensation triggered by periods of fasting or infections, which when left untreated are life-threatening and may lead to neurological sequelae." "" + "leukemia, acute myelocytic, with polyposis coli and colon cancer" "" + "Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome" "Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome is a rare ectodermal dysplasia syndrome characterized by congenital generalized melanoleukoderma, hypodontia and hypotrichosis associated with infantilism, intellectual disability and growth delay. There have been no further descriptions in the literature since 1961." "" + "Lichtenstein syndrome" "Lichstenstein syndrome is characterised by frequent infections associated with osteoporosis, a tendency for fractures and osseous anomalies. It has been described in two monozygotic twin brothers. Transmission is autosomal recessive." "" + "intellectual disability-spasticity-ectrodactyly syndrome" "Intellectual disability-spasticity-ectrodactyly syndrome is a rare intellectual disability syndrome characterized by severe intellectual disability, spastic paraplegia (with wasting of the lower limbs) and distal transverse defects of the limbs (e.g. ectrodactyly, syndactyly, clinodactyly of the hands and/or feet)." "" + "split hand-foot malformation 3" "The distal limb deficiencies-micrognathia syndrome is characterized by the combination of symmetric severe distal limb reduction deficiencies affecting all four limbs (oligodactyly), microretrognathia, and microstomia with or without cleft palate." "" + "partial duplication of the long arm of chromosome 10" "" + "fibular aplasia, tibial campomelia, and oligosyndactyly syndrome" "" + "lipase deficiency, combined" "A rare disorder caused by mutation in the LMF1 gene resulting in combined lipase deficiency with concomitant hypertriglyceridemia and associated disorders." "" + "chylomicron retention disease" "Chylomicron retention disease (CRD) is a type of familial hypocholesterolemia characterized by malnutrition, failure to thrive, growth failure, vitamin E deficiency and hepatic, neurologic and ophthalmologic complications." "" + "pyruvate dehydrogenase E3 deficiency" "Pyruvate dehydrogenase E3 deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD) characterized by either early-onset lactic acidosis and delayed development, later-onset neurological dysfunction or liver disease." "" + "maple syrup urine disease" "An autosomal recessive inherited disorder caused by mutations in the BCKDHA, BCKDHB, DBT, and DLD genes. It is characterized by a deficiency of branched-chain alpha-keto acid dehydrogenase complex, leading to accumulation of metabolites in the body fluids. The name of the disease derives from the sweet odor of the urine in infants, reminiscent of maple syrup. Signs and symptoms usually appear in infancy and include lethargy and developmental delays. If untreated, it may lead to seizures, coma, and death." "" + "inherited lipoic acid biosynthesis defect" "An acquired metabolic disease that is has its basis in the disruption of lipoate biosynthetic process." "" + "lipoid proteinosis" "Lipoid proteinosis (LP) is a rare genodermatosis characterized clinically by mucocutaneous lesions, hoarseness developing in early childhood and, at times, neurological complications." "" + "obsolete lip prints" "" "true" + "Miller-Dieker lissencephaly syndrome" "A rare syndrome caused by deletion of genetic material in the short arm of chromosome 17. It is characterized by an abnormally smooth brain with fewer folds and grooves. It results in intellectual disability, developmental delay, seizures, spasticity, hypotonia, and feeding difficulties. Affected individuals have distinctive facial features that include a prominent forehead, midface hypoplasia, small, upturned nose, low-set ears, small jaw, and thick upper lip." "" + "classic lissencephaly" "" + "Dahlberg-Borer-Newcomer syndrome" "Dahlberg-Borer-Newcomer syndrome is a very rare ectodermal dysplasia syndrome, described in 2 adult brothers, characterized by the association of hypoparathyroidism, nephropathy, congenital lymphedema, mitral valve prolapse and brachytelephalangy. Additional features include mild facial dysmorphism, hyperthricoses, and nail abnormalities." "" + "chronic mucocutaneous candidiasis due to inhibition of lymphoblastic transformation" "" + "obsolete lymphedema, congenital recessive" "" "true" + "chronic mucocutaneous candidiasis due to intrinsic defect in lymphoblastic transformation" "" + "lymphoid interstitial pneumonia" "Interstitial pneumonia characterized by the presence of bibasilar pulmonary interstitial infiltrates composed of lymphocytes and plasma cells. It may be associated with autoimmune and lymphoproliferative disorders. Signs and symptoms include fever, cough, and dyspnea. Symptomatic patients may require immunosuppressive treatment." "" + "lymphoid system deterioration, progressive" "" + "lymphoblastic leukemia, acute, with lymphomatous features" "" + "chronic mucocutaneous candidiasis due to lymphokine deficiency" "" + "lymphopenic hypergammaglobulinemia, antibody deficiency, autoimmune hemolytic anemia, and glomerulonephritis" "" + "lysine malabsorption syndrome" "" + "prominent glabella-microcephaly-hypogenitalism syndrome" "Prominent glabella B microcephaly B hypogenitalism is a very rare syndrome described in two sibs and characterized by prenatal onset of growth deficiency, microcephaly, hypoplastic genitalia, and birth onset of convulsions." "" + "macrocephaly/megalencephaly syndrome, autosomal recessive" "" + "macroepiphyseal dysplasia with osteoporosis, wrinkled skin, and aged appearance" "" + "macrosomia adiposa congenita" "" + "macrosomia-microphthalmia-cleft palate syndrome" "Macrosomia-microphthalmia-cleft palate syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by early macrosomia, bilateral severe microphthalmia and a protuberant abdomen with hepatomegaly. Additional reported features include brachycephaly, large fontanelles, prominent forehead, upturned nose and median cleft palate. Cyanotic apneic spells and overwhelming infection lead to death within the first 6 months of life. There have been no further descriptions in the literature since 1989." "" + "renal hypomagnesemia 5 with ocular involvement" "Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement (FHHNCOI) is a form of familial primary hypomagnesemia (FPH), characterized by excessive magnesium and calcium renal wasting, bilateral nephrocalcinosis, progressive renal failure and severe ocular abnormalities." "" + "familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis" "Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is a form of familial primary hypomagnesemia (FPH), characterized by renal magnesium (Mg) and calcium (Ca) wasting, nephrocalcinosis, kidney failure and, in some cases, severe ocular impairment. Two subtypes of FHHNC are described: FHHNC with severe ocular involvement (FHHNCOI) and without severe ocular involvement (FHHN)." "" + "oculocerebrorenal syndrome" "Oculocerebrorenal syndrome of Lowe (OCRL) is a multisystem disorder characterized by congenital cataracts, glaucoma, intellectual disabilities, postnatal growth retardation and renal tubular dysfunction with chronic renal failure." "" + "severe early-childhood-onset retinal dystrophy" "Severe early childhood onset retinal dystrophy (SECORD) is an inherited retinal dystrophy, characterized by a severe congenital night blindness, progressive retinal dystrophy and nystagmus. Best corrected visual acuity can reach 0.3 in the first decade of life and can pertain well into the second decade of life. Blindness is often complete by the age of 30 years. An overlap with Leber congenital amaurosis (LCA) occurs when patients are characterized by their visual acuity and panretinal dystrophy." "" + "Stargardt disease" "Stargardt disease, also known as Stargardt 1 (STGD1), is an autosomal recessive form of retinal dystrophy that is usually characterized by a progressive loss of central vision associated with irregular macular and perimacular yellow-white fundus flecks, and a so-called ''beaten bronze'' atrophic central macular lesion." "" + "renal hypomagnesemia 3" "Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement (FHHN) is a form of familial primary hypomagnesemia (FPH), characterized by recurrent urinary tract infections, nephrolithiasis, bilateral nephrocalcinosis, renal magnesium (Mg) wasting, hypercalciuria and kidney failure." "" + "magnesium, elevated red cell" "" + "mal de Meleda" "Mal de Melada (MdM) is a diffuse palmoplantar keratoderma initially reported from of the Island of Meleda characterized by symmetric palmoplantar hyperkeratosis that progressively extends to the dorsal surfaces of hands and feet (transgradiens). The disease can be associated to hyperhidrosis, lichenoid plaques and perioral erythema." "" + "Plasmodium falciparum blood infection level" "True" + "3MC syndrome 3" "Any 3MC syndrome in which the cause of the disease is a mutation in the COLEC10 gene." "" + "3MC syndrome" "3MC syndrome describes a rare developmental disorder, that unifies the overlapping autosomal recessive disorders previously known as Carnevale, Mingarelli, Malpuech and Michels syndromes, characterized by a spectrum of developmental anomalies that include distinctive facial dysmorphism (i.e. hypertelorism, blepharophimosis, blepharoptosis, highly arched eyebrows), cleft lip and/or palate, craniosynostosis, learning disability, radioulnar synostosis and genital and vesicorenal anomalies. Less common features reported include anterior chamber defects, cardiac anomalies (e.g. ventricular septal defect), caudal appendage, umbilical hernia/omphalocele and diastasis recti." "" + "malocclusion and short stature" "" + "malonic aciduria" "Malonic aciduria is a metabolic disorder caused by deficiency of malonyl-CoA decarboxylase (MCD)." "" + "mandibuloacral dysplasia with type A lipodystrophy" "A rare, autosomal recessive inherited disorder caused by mutations in the LMNA gene. It is characterized by growth retardation, craniofacial abnormalities with mandibular hypoplasia, skeletal abnormalities with progressive osteolysis of the distal phalanges and clavicles, and mottled or patchy skin pigmentation. The affected individuals have a marked acral loss of adipose tissue with normal or increased adipose tissue in the neck and trunk." "" + "mandibuloacral dysplasia" "Mandibuloacral dysplasia (MAD) is a rare genetic bone disorder characterized by growth delay, postnatal development of craniofacial anomalies including mandibular hypoplasia, progressive acral osteolysis, mottled or patchy pigmentation, skin atrophy, and partial or generalized lipodystrophy." "" + "Treacher Collins syndrome 3" "Any Treacher-Collins syndrome in which the cause of the disease is a mutation in the POLR1C gene." "" + "mandibulofacial dysostosis with mental deficiency" "" + "oculotrichoanal syndrome" "" + "alpha-mannosidosis" "Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit." "" + "cataract associated with a metabolic disease" "True" + "beta-mannosidosis" "Beta-mannosidosis is a very rare lysosomal storage disease characterized by developmental delay of varying severity and hearing loss, but that can manifest a wide phenotypic heterogeneity." "" + "inborn disorder of branched-chain amino acid metabolism" "An acquired metabolic disease that is has its basis in the disruption of branched-chain amino acid metabolic process." "" + "Marden-Walker syndrome" "Marden-Walker syndrome (MWS) is a malformation syndrome characterized by multiple joint contractures (arthrogryposis), a mask-like face with blepharophimosis, micrognathia, high-arched or cleft palate, low-set ears, decreased muscular bulk, kyphoscoliosis and arachnodactyly." "" + "microcephaly-glomerulonephritis-marfanoid habitus syndrome" "This syndrome is characterised by intellectual deficit, marfanoid habitus, microcephaly, and glomerulonephritis." "" + "marfanoid habitus-autosomal recessive intellectual disability syndrome" "Marfanoid habitus B intellectual deficit, autosomal recessive is a very rare multiple congenital anomalies syndrome described in four sibs and characterized by intellectual deficit, flat face and some skeletelal features of Marfan syndrome such as tall stature, dolichostenomelia, arm span larger than height, arachnodactyly of hands and feet, little subcutaneous fat, muscle hypotonia and intellectual deficit." "" + "Marinesco-Sjogren syndrome" "Marinesco-Sjogren syndrome (MSS) belongs to the group of autosomal recessive cerebellar ataxias. Cardinal features of MSS are cerebellar ataxia, congenital cataract, and delayed psychomotor development." "" + "cerebral disease with cataract" "True" + "mast syndrome" "Autosomal recessive spastic paraplegia type 21 is a complex type of hereditary spastic paraplegia characterized by an onset in adolescence or adulthood of slowly progressive spastic paraparesis associated with the additional manifestations of apraxia, cognitive and speech decline (leading to dementia and akinetic mutism in some cases), personality disturbances and extrapyramidal (e.g. oromandibular dyskinesia, rigidity) and cerebellar (i.e. dysdiadochokinesia and incoordination) signs. Subtle abnormalities (e.g. developmental delays) may be noted earlier in childhood. A thin corpus callosum and white matter abnormalities are equally reported on magnetic resonance imaging." "" + "pure or complex autosomal recessive spastic paraplegia" "" + "Hennekam-Beemer syndrome" "Hennekam-Beemer syndrome is characterized by the association of skin mastocytosis (appearing as diffuse pigmentation), short stature, microcephaly, conductive hearing loss, and dysmorphic features. It has been described in only two (female) cases: one with normal mental development born to consanguineous parents and the other with severe psychomotor retardation born to unrelated parents. The mode of inheritance is most likely autosomal recessive." "" + "McDonough syndrome" "A rare, multiple congenital anomalies/dysmorphic syndrome characterized by facial dysmorphsim (prominent superciliary arcs, synophrys, strabismus, large, anteverted ears, large nose, malocclusion of teeth), delayed psychomotor development, intellectual disability and congenital heart defects (e.g. pulmonic stenosis, patent ductus arteriosus, atrial septal defect). Additional features include thorax deformation (pectus excavatum/carinatum), kyphoscoliosis, diastasis recti and cryptorchidism." "" + "Meckel syndrome, type 1" "Any Meckel syndrome in which the cause of the disease is a mutation in the MKS1 gene." "" + "Meckel syndrome" "A rare, lethal, genetic, multiple congenital anomaly disorder characterized by the triad of brain malformation mainly occipital encephalocele, large polycystic kidneys, and polydactyly as well as associated abnormalities that may include cleft lip/palate, cardiac and genital anomalies, central nervous system (CNS) malformations, liver fibrosis, and bone dysplasia." "" + "autosomal recessive familial Mediterranean fever" "Autosomal recessive form of familial Mediterranean fever." "" + "megaepiphyseal dwarfism" "" + "megalencephaly with dysmyelination" "" + "thiamine-responsive megaloblastic anemia syndrome" "Thiamine-responsive megaloblastic anemia (TRMA) is characterized by a triad of megaloblastic anemia, non-type I diabetes mellitus, and sensorineural deafness." "" + "vitamin B12- and folate-independent constitutional megaloblastic anemia" "" + "megalocornea" "" + "megalocornea-intellectual disability syndrome" "Megalocornea-intellectual disability syndrome is a rare intellectual disability syndrome most commonly characterized by megalocornea, congenital hypotonia, varying degrees of intellectual disability, psychomotor/developmental delay, seizures, and mild facial dysmorphism (including round face, frontal bossing, antimongoloid slant of the eyes, epicanthal folds, large low set ears, broad nasal base, anteverted nostrils, and long upper lip). Interfamilial and intrafamilial clinical variability has been reported." "" + "neurocutaneous melanocytosis" "Neurocutaneous melanocytosis (NCM) is a rare congenital neurological disorder characterized by abnormal aggregations of nevomelanocytes within the central nervous system (leptomeningeal melanocytosis) associated with large or giant congenital melanocytic nevi (CMN). NCM can be asymptomatic or present as variably severe and progressive neurological impairment, sometimes resulting in death." "" + "Frank-Ter Haar syndrome" "Frank-ter Haar syndrome (formerly considered as an autosomal recessive form of Melnick-Needles syndrome) is defined by megalocornea, multiple skeletal anomalies, characteristic facial dysmorphism (wide fontanels, prominent forehead, hypertelorism, prominent eyes, full cheeks and micrognathia) and developmental delay." "" + "otopalatodigital syndrome spectrum disorder" "Otopalatodigital syndrome spectrum disorder is a primary bone dysplasia and encompasses a group of congenital anomalies that are characterized by skeletal dysplasia of varying clinical severity and an X linked dominant pattern of inheritance. This group include otopalatodigital syndrome type 1 and 2 (OPD1, OPD2) which are characterized in affected males by cleft palate, conductive hearing loss, craniofacial abnormalities and skeletal dysplasia; Melnick-Needles syndrome (MNS) which displays skeletal deformities in females and embryonic or perinatal lethality in most males; frontometaphyseal dysplasia (FMD); and terminal osseous dysplasia - pigmentary defects." "" + "intellectual disability, autosomal recessive 1" "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the PRSS12 gene." "" + "autosomal recessive non-syndromic intellectual disability" "Autosomal recessive form of non-syndromic intellectual disability." "" + "intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome" "Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome is characterised by moderate intellectual deficit, craniofacial dysmorphism (including broad nose with coloboma of the alea nasi, deep-set eyes, prognathism), hypergonadotropic hypogonadism, eunuchoid habitus, type 1 diabetes mellitus, and epilepsy. It has been described in four patients (three brothers and their sister). This syndrome is probably transmitted as an autosomal recessive trait." "" + "Mietens syndrome" "Mietens syndrome is a very rare syndrome consisting of corneal opacity, nystagmus, strabismus, flexion contracture of the elbows with dislocation of the head of the radius and abnormally short ulnae and radii." "" + "blepharophimosis - intellectual disability syndrome, Ohdo type" "Ohdo blepharophimosis syndrome (OBS) is a multiple congenital malformation syndrome characterized by blepharophimosis, ptosis, dental hypoplasia, hearing impairment and intellectual disability." "" + "intellectual disability, Buenos-Aires type" "Intellectual disability, Buenos-Aires type is a rare intellectual disability syndrome characterized by growth retardation, microcephaly, characteristic facial features (including narrow forehead, bushy eyebrows, hypertelorism, small, downward-slanting palpebral fissures with blepharoptosis, malformed and low-set ears, broad straight nose, thin upper lip, and a wide, tented mouth), developmental delay, intellectual disability, speech disorder, and multiple organ malformations (e.g. ventricular septal defect, megaloureter, dilated renal pelvis). Additional manifestations reported include neurocutaneous lesions (including palmoplantar hyperkeratosis), internal hydrocephalus, and bilateral partial soft-tissue syndactyly of second and third toe." "" + "encephalopathy due to beta-mercaptolactate-cysteine disulfiduria" "" + "mesangial sclerosis, diffuse renal, with ocular abnormalities" "" + "mesoaxial hexadactyly and cardiac malformation" "" + "Langer mesomelic dysplasia" "Langer mesomelic dysplasia (LMD) is characterized by severe disproportionate short stature with mesomelic and rhizomelic shortening of the upper and lower limbs." "" + "mesomelic dwarfism-cleft palate-camptodactyly syndrome" "Mesomelic dwarfism-cleft palate-camptodactyly syndrome is characterised by mesomelic shortening and bowing of the limbs, camptodactyly, skin dimpling and cleft palate with retrognathia and mandibular hypoplasia. It has been described in a brother and sister born to consanguineous parents. Transmission is autosomal recessive." "" + "metachromatic leukodystrophy due to saposin b deficiency" "" + "metachromatic leukodystrophy, juvenile form" "Metachromatic leukodystrophy is an inherited condition characterized by the accumulation of fats called sulfatides in cells, especially cells of the nervous system. This accumulation results in progressive destruction of white matter of the brain, which consists of nerve fibers covered by myelin.Affected individuals experience progressive deterioration of intellectual functions and motor skills, such as the ability to walk. They also develop loss of sensation in the extremities, incontinence, seizures, paralysis, inability to speak, blindness, and hearing loss. Eventually they lose awareness of their surroundings and become unresponsive. This condition is inherited in an autosomal recessive pattern and is caused by mutations in the ARSA and PSAP genes." "" + "metaphyseal acroscyphodysplasia" "Metaphyseal acroscyphodysplasia is an extremely rare form of metaphyseal dysplasia characterized by the distinctive radiological sign of cone-shaped upper tibial and lower femoral epiphyses embedded in large cup-shaped metaphyses, associated with short stature and micromelia. Upper limb involvement includes brachydactyly and phalangeal and metacarpal cone-shaped epiphyses. The association of metaphyseal acroscyphodysplasia with psychomotor delay and alopecia has also been reported in some cases." "" + "spondylometaphyseal dysplasia, Sedaghatian type" "Spondylometaphyseal dysplasia (SEMD), Sedaghatian type is a neonatal lethal form of spondylometaphyseal dysplasia characterized by severe metaphyseal chondrodysplasia, mild rhizomelic shortness of the upper limbs, and mild platyspondyly." "" + "metaphyseal chondrodysplasia, Kaitila type" "Metaphyseal chondrodysplasia, Kaitila type is a rare multiple metaphyseal dysplasia disease characterized by disproportionate short stature, short limbs and digits, tracheobronchial malacia and progressive thoracolumbar scoliosis. Radiographic imaging shows progression from marked metaphyseal dysplasia of tubular bones in childhood to short and broad bones with mild dysplasia of the joints in adulthood. There have been no further descriptions in the literature since 1982." "" + "cartilage-hair hypoplasia" "Cartilage-hair hypoplasia is a disease affecting the bone metaphyses causing small stature from birth." "" + "metaphyseal chondrodysplasia, Pena type" "" + "metaphyseal chondrodysplasia, Spahr type" "" + "metaphyseal chondrodysplasia-retinitis pigmentosa syndrome" "" + "metaphyseal dysostosis-intellectual disability-conductive deafness syndrome" "Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome is characterised by metaphyseal dysplasia, short-limb dwarfism, mild intellectual deficit and conductive hearing loss, associated with repeated episodes of otitis media in childhood. It has been described in three brothers born to consanguineous Sicilian parents. Variable manifestations included hyperopia and strabismus. The mode of inheritance is autosomal recessive." "" + "metaphyseal dysplasia, anetoderma, and optic atrophy" "" + "metaphyseal dysplasia without hypotrichosis" "" + "metaphyseal modeling abnormality, skin lesions, and spastic paraplegia" "" + "3-hydroxyisobutyryl-CoA hydrolase deficiency" "Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency is characterised by delayed motor development, hypotonia and progressive neurodegeneration. To date, it has been described in four boys. The syndrome is caused by mutations affecting the two alleles of the HIBCH gene, encoding 3-hydroxyisobutyryl-CoA hydrolase. The mode of transmission has not yet been established." "" + "methemoglobin reductase deficiency" "" + "hereditary methemoglobinemia" "Methemoglobinemia inherited in an autosomal recessive pattern. It is caused by deficiency of the enzyme NADH methemoglobin reductase or the presence of abnormal hemoglobin M. It presents with cyanosis early in life. There is no evidence of cardiopulmonary disease present." "" + "methemoglobinemia type 4" "Any methemoglobinemia in which the cause of the disease is a mutation in the CYB5A gene." "" + "methemoglobinemia due to deficiency of methemoglobin reductase" "" + "methionine adenosyltransferase deficiency" "Hypermethioninemia due to methionine adenosyltransferase deficiency is a very rare metabolic disorder resulting in isolated hepatic hypermethioninemia that is usually benign due to partial inactivation of enzyme activity. Rarely patients have been found to have an odd odor or neurological disorders such as brain demyelination." "" + "methionine malabsorption syndrome" "" + "methylcobalamin deficiency type cblG" "Methylcobalamin deficiency cbl G type is a rare condition that occurs when the body is unable to process certain amino acids (building blocks of protein) properly. In most cases, signs and symptoms develop during the first year of life; however, the age of onset can range from infancy to adulthood. Common features of the condition include feeding difficulties, lethargy, seizures, poor muscle tone (hypotonia), developmental delay, microcephaly (unusually small head size), and megaloblastic anemia. Methylcobalamin deficiency cbl G type is caused by changes (mutations) in the MTR gene and is inherited in an autosomal recessive manner. Treatment generally includes regular doses of hydroxycobalamin (vitamin B12). Some affected people may also require supplementation with folates and betaine." "" + "3-methylglutaconic aciduria type 1" "3-methylglutaconic aciduria (3-MGA) type I is an inborn error of leucine metabolism with a variable clinical phenotype ranging from mildly delayed speech to psychomotor retardation, coma, failure to thrive, metabolic acidosis and dystonia." "" + "3-methylglutaconic aciduria" "A group of five inherited disorders caused by mutations in the AUH, DNAJC19, OPA3, and TAZ genes. The disorders are characterized by impairment in the function of mitochondria, resulting in the accumulation and excretion of 3-methylglutaconic acid, and the presence of 3-methylglutaric acid in the urine." "" + "3-methylglutaconic aciduria type 4" "3-methylglutaconic aciduria (3-MGA) type IV, or unclassified 3-MGA, is a clinically heterogeneous disorder characterised by increased 3-methylglutaconic acid excretion in individuals that cannot be classified as having one of the other forms of 3-MGA (3-MGA I, II or III)." "" + "methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency" "Vitamin B12-unresponsive methylmalonic acidemia is an inborn error of vitamin B12 (cobalamin) metabolism characterized by recurrent ketoacidotic crises or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12. There are two types of vitamin B12-unresponsive methylmalonic acidemia: mut0 and mut-." "" + "vitamin B12-responsive methylmalonic acidemia type cblA" "An autosomal recessive form of methylmalonic aciduria, caused by mutation(s) in the MMAA gene, encoding MMAA protein." "" + "vitamin B12-responsive methylmalonic acidemia" "Vitamin B12-responsive methylmalonic acidemia (MA) is an inborn error of vitamin B12 (cobalamin) metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which responds to vitamin B12. There are three types: cblA, cblB and cblD-variant 2 (cblDv2)." "" + "vitamin B12-responsive methylmalonic acidemia type cblB" "An autosomal recessive form of methylmalonic aciduria, caused by mutation(s) in the MMAB gene, encoding cob(I)yrinic acid a,c-diamide adenosyltransferase, mitochondrial." "" + "methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency" "Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency is a rare inborn error of metabolism disease characterized by mild to moderate, persistent elevation of methylmalonic acid in plasma, urine and cerebrospinal fluid. Clinical presentation may include acute metabolic decompensation with metabolic acidosis (presenting with vomiting, dehydration, confusion, hallucinations), nonspecific neurological symptoms, or may also be asymptomatic." "" + "microcephalic primordial dwarfism, Toriello type" "Microcephalic primordial dwarfism, Toriello type is characterised by growth retardation with prenatal onset, cataracts, microcephaly, intellectual deficit, immune deficiency, delayed ossification and enamel hypoplasia. It has been described in two siblings. Transmission is autosomal recessive." "" + "microcephaly 1, primary, autosomal recessive" "Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the MCPH1 gene." "" + "autosomal recessive primary microcephaly" "Autosomal recessive primary microcephaly (MCPH) is a rare genetically heterogeneous disorder of neurogenic brain development characterized by reduced head circumference at birth with no gross anomalies of brain architecture and variable degrees of intellectual impairment." "" + "microcephaly-cardiomyopathy syndrome" "A syndrome characterised by severe intellectual deficit, microcephaly and dilated cardiomyopathy. Hand and foot anomalies have also been reported. The syndrome has been described in three individuals. Transmission is autosomal recessive." "" + "microcephaly-micromelia syndrome" "" + "Say-Barber-Miller syndrome" "Say-Barber-Miller syndrome is characterised by the association of unusual facial features, microcephaly, developmental delay, and severe postnatal growth retardation." "" + "immunodeficiency predominantly affecting antibody production" "" + "microcephaly-cervical spine fusion anomalies syndrome" "Microcephaly-cervical spine fusion anomalies syndrome is characterized by microcephaly, facial dysmorphism (beaked nose, low-set ears, downslanting palpebral fissures, micrognathia), mild intellectual deficit, short stature, and cervical spine fusion anomalies producing spinal cord compression. It has been described in two brothers born to consanguineous parents. Transmission is likely to be autosomal recessive." "" + "Jawad syndrome" "Jawad syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by congenital microcephaly wih facial dysmorphism (sloping forehead, prominent nose, mild retrognathia), moderate to severe, non-progressive intellectual disability and symmetrical digital malformations of variable degree, including brachydactyly of the fifth fingers with single flexion crease, clinodactyly, syndactyly, polydactyly and hallux valgus. Congenital anonychia and white café au lait-like spots on the skin of hands and feet are also associated." "" + "Nijmegen breakage syndrome" "Nijmegen breakage syndrome is a rare genetic disease presenting at birth with microcephaly, dysmorphic facial features, becoming more noticeable with age, growth delay, and later-onset complications such as malignancies and infections." "" + "microcephaly and chorioretinopathy 1" "An autosomal recessive disorder caused by mutation(s) in the TUBGCP6 gene, encoding gamma-tubulin complex component 6. It is characterized by microcephaly and chorioretinopathy." "" + "diencephalic-mesencephalic junction dysplasia syndrome 1" "" + "diencephalic-mesencephalic junction dysplasia syndrome" "" + "pseudo-TORCH syndrome" "Congenital intrauterine infection-like syndrome is characterised by the presence of microcephaly and intracranial calcifications at birth accompanied by neurological delay, seizures and a clinical course similar to that seen in patients after intrauterine infection with Toxoplasma gondii, Rubella, Cytomegalovirus, Herpes simplex (so-called TORCH syndrome), or other agents, despite repeated tests revealing the absence of any known infectious agent." "" + "Galloway-Mowat syndrome" "Galloway syndrome is characterized by the association of nephrotic syndrome and central nervous system anomalies." "" + "microcolon" "A rare congenital abnormality characterized by the presence of an abnormally small colon. It is the result of intestinal underutilization during fetal development." "" + "Desbuquois dysplasia 1" "Any Desbuquois dysplasia in which the cause of the disease is a mutation in the CANT1 gene." "" + "Desbuquois dysplasia" "Desbuquois syndrome (DBQD) is an osteochondrodysplasia characterized by severe micromelic dwarfism, facial dysmorphism, joint laxity with multiple dislocations, vertebral and metaphyseal abnormalities and advanced carpotarsal ossification. Two forms have been distinguished on the basis of the presence (type 1) or the absence (type 2) of characteristic hand anomalies. A variant form of DBQD, Kim variant, has also been described and is characterized by short stature and articular, minor facial and significant hand anomalies." "" + "microphthalmia, isolated, with coloboma 4" "" + "isolated microphthalmia 1" "A microphthalmia that has material basis in variation in the chromosomal region 14q32." "" + "microphthalmia with hyperopia, retinal degeneration, macrophakia, and dental anomalies" "" + "microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma" "" + "microtia with meatal atresia and conductive deafness" "" + "microvillus inclusion disease" "Microvillus inclusion disease (MVID) is a very rare, severe, malabsorbative syndrome characterized clinically by protracted or intractable neonatal secretory diarrhea and histologically by inclusion bodies on the intestinal epithelium." "" + "congenital enteropathy involving intestinal mucosa development" "" + "mitochondrial DNA depletion syndrome 3" "Any mitochondrial DNA depletion syndrome in which the cause of the disease is a mutation in the DGUOK gene." "" + "mitochondrial myopathy with a defect in mitochondrial-protein transport" "" + "obsolete mitochondrial myopathy with lactic acidosis" "" "true" + "obsolete mitochondrial complex I deficiency, nuclear type" "" "true" + "obsolete mitochondrial complex II deficiency" "" "true" + "orofaciodigital syndrome type II" "Oral-facial-digital (OFD) type 2 is characterized by hand and feet deformities, facial deformities, midline cleft of the upper lip and tongue hamartomas." "" + "sulfite oxidase deficiency due to molybdenum cofactor deficiency type A" "" + "sulfite oxidase deficiency due to molybdenum cofactor deficiency" "" + "sulfite oxidase deficiency due to molybdenum cofactor deficiency type B" "" + "chronic mucocutaneous candidiasis due to monocyte chemotactic disorder" "" + "Monosomy 7 myelodysplasia and leukemia syndrome 1" "" + "monosomy 7 myelodysplasia and leukemia syndrome" "" + "Morquio syndrome C" "" + "mucopolysaccharidosis type 4" "Mucopolysaccharidosis type IV (MPS IV) is a lysosomal storage disease belonging to the group of mucopolysaccharidoses, and characterised by spondylo-epiphyso-metaphyseal dysplasia. It exists in two forms, A and B." "" + "peripheral motor neuropathy-dysautonomia syndrome" "Peripheral motor neuropathy-dysautonomia syndrome is characterised by distal, slowly progressive muscular weakness, childhood-onset amyotrophy, autonomic dysfunction characterized by profuse sweating, distal cyanosis related to cold weather, orthostatic hypotension, and esophageal achalasia. It has been described in two sisters. Inheritance appears to be autosomal recessive." "" + "moyamoya disease 1" "" + "Moyamoya disease" "Moyamoya disease (MMD) is a rare intracranial arteriopathy involving progressive stenosis of the cerebral vasculature located at the base of the brain causing transient ischemic attacks or strokes." "" + "mucolipidosis type II" "Mucolipidosis II (MLII) is a slowly progressive lysosomal disorder characterized by growth retardation, skeletal abnormalities, facial dysmorphism, stiff skin, developmental delay and cardiomegaly." "" + "mucolipidosis" "A group of inherited lysosomal storage diseases characterized by accumulation of lipids and carbohydrates in the tissues, resulting in mental disabilities and skeletal malformations." "" + "obsolete pseudo-Hurler polydystrophy" "" "true" + "mucolipidosis type III gamma" "Mucolipidosis III gamma (ML 3 gamma) is a very rare lysosomal disease, that has most often been observed in the Middle East, characterized by a progressive slowing of the growth rate in early childhood; stiffness and pain in shoulders, hips, and finger joints; a gradual, mild coarsening of facial features; and by a slower progression, milder clinical course and longer life expectancy than that seen in mucolipidosis II and mucolipidosis III alpha/beta. Cognitive function is normal or only slightly impaired and retinitis pigmentosa has been reported in a few patients. Many survive into early adulthood, but ultimately succumb to cardiorespiratory insufficiency." "" + "mucolipidosis type IV" "A lysosomal storage disease characterised clinically by psychomotor retardation and visual abnormalities including corneal clouding, retinal degeneration, or strabismus." "" + "obsolete mucopolysaccharidoses, unclassified types" "" "true" + "Sanfilippo syndrome type A" "A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme heparan sulfate sulfatase. It is characterized by behavioral changes, sleep disturbances, mental developmental delays and seizures." "" + "mucopolysaccharidosis type 3" "Mucopolysaccharidosis type III (MPS III) is a lysosomal storage disease belonging to the group of mucopolysaccharidoses and characterised by severe and rapid intellectual deterioration." "" + "Sanfilippo syndrome type B" "A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme N-acetyl-alpha-D-glucosaminidase. It is characterized by behavioral changes, sleep disturbances, and mental developmental delays." "" + "Sanfilippo syndrome type C" "A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme acetyl-CoA:alpha-glucosaminide acetyltransferase. It is characterized by behavioral changes, sleep disturbances, and mental developmental delays." "" + "Sanfilippo syndrome type D" "A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme N-acetylglucosamine-6-sulfatase. It is characterized by behavioral changes, sleep disturbances and mental developmental delays." "" + "mucopolysaccharidosis type 4A" "A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme galactosamine-6-sulfatase. It is characterized by skeletal and central nervous system deficits." "" + "mucopolysaccharidosis type 4B" "A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme beta galactosidase. It is characterized by skeletal dysplasia and short stature." "" + "mucopolysaccharidosis type 6" "Mucopolysaccharidosis type 6 (MPS 6) is a lysosomal storage disease with progressive multisystem involvement, associated with a deficiency of arylsulfatase B (ASB) leading to the accumulation of dermatan sulfate." "" + "mucopolysaccharidosis type 7" "Mucopolysaccharidosis type VII (MPS VII) is a very rare lysosomal storage disease belonging to the group of mucopolysaccharidoses." "" + "mucus inspissation of respiratory tract" "" + "mulibrey nanism" "A prenatal onset growth disorder with multiorgan manifestations." "" + "disorder of defective peroxisome oxidative status" "Any peroxisomal single enzyme/protein defect that has its basis in the disruption of peroxisome oxidation." "" + "biotinidase deficiency" "Biotinidase deficiency is a late-onset form of multiple carboxylase deficiency, an inborn error of biotin metabolism that, if untreated, is characterized by seizures, breathing difficulties, hypotonia, skin rash, alopecia, hearing loss and delayed development." "" + "multiple carboxylase deficiency" "Multiple carboxylase deficiency (MCD) is a term used to describe inborn errors of biotin metabolism characterized by reduced activities of biotin-dependent enzymes resulting in a wide spectrum of symptoms, including feeding difficulty, breathing difficulties, lethargy, seizures, skin rash, alopecia, and developmental delay." "" + "holocarboxylase synthetase deficiency" "A life-threatening early-onset form of multiple carboxylase deficiency, an inborn error of biotin metabolism, that, if untreated, is characterized by vomiting, tachypnea, irritability, lethargy, exfoliative dermatitis, and seizures that can worsen to coma." "" + "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3" "An autosomal recessive muscular dystrophy caused by mutations in the POMGNT1 gene. It is associated with characteristic brain and eye malformations, profound mental retardation, and death usually in the first years of life." "" + "muscle-eye-brain disease" "A rare, congenital muscular dystrophy due to dystroglycanopathy characterized by early onset muscular dystrophy, severe muscular hypotonia, severe mental retardation and typical brain and eye malformations, including pachygyria, polymicrogyria, agyria, brainstem and cerebellar structural anomalies, severe myopia, glaucoma, optic nerve and retinal hypoplasia. Patients may present with seizures, macrocephaly or microcephaly, microphthalmia, and congenital contractures. Depending on the severity, limited motor function is acquired. Less severe cases have been reported." "" + "lethal multiple pterygium syndrome" "Multiple pterygium syndrome lethal type is a very rare genetic condition affecting the skin, muscles and skeleton. It is characterized by minor facial abnormalities, prenatal growth deficiency, spine defects, joint contractures, and webbing (pterygia)of the neck, elbows, back of the knees, armpits, and fingers. Fetuses with this condition are usually not born. Some of the prenatal complications include cystic hygroma, hydrops, diaphragmatic hernia, polyhydramnios, underdevelopment of the heart and lungs, microcephaly, bone fusions, joint dislocations, spinal fusion, andbone fractures. Both X-linked and autosomal recessive inheritance have been proposed. Mutations in the CHRNG, CHRNA1, and CHRND genes have been found to cause this condition." "" + "spinal muscular atrophy, type 1" "A severe infantile form of proximal spinal muscular atrophy characterized by severe and progressive muscle weakness and hypotonia resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei." "" + "proximal spinal muscular atrophy" "Proximal spinal muscular atrophies are a group of neuromuscular disorders characterized by progressive muscle weakness resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei." "" + "lethal congenital contracture syndrome 1" "Lethal congenital contracture syndrome type 1 is a rare, genetic arthrogryposis syndrome characterized by total fetal akinesia (detectable since the 13th week of gestation) accompanied by hydrops, micrognathia, pulmonary hypoplasia, pterygia and multiple joint contractures (usually flexion contractures in the elbows and extension in the knees), leading invariably to death before the 32nd week of gestation. Lack of anterior horn motoneurons, severe atrophy of the ventral spinal cord and severe skeletal muscle hypoplasia are characteristic neuropathological findings, with no evidence of other organ structural anomalies." "" + "lethal congenital contracture syndrome" "A syndrome characterized by congenital nonprogressive joint contractures. The contractures can involve the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension limitations evident at birth." "" + "intellectual disability-myopathy-short stature-endocrine defect syndrome" "Intellectual disability-myopathy-short stature-endocrine defect syndrome is a rare congenital myopathy syndrome characterized by nonprogressive myopathy (manifesting with mild facial and generalized weakness, bilateral ptosis, and severe lumbar lordosis), severe intellectual disability, short stature, and sexual infantilism (due to hypogonadotropic hypogonadism). The presence of a small pituitary fossa was also noted. There have been no further descriptions in the literature since 1985." "" + "spinal muscular atrophy, type III" "Proximal spinal muscular atrophy type 3 (SMA3) is a relatively mild form of proximal spinal muscular atrophy characterized by muscle weakness and hypotonia resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei." "" + "spinal muscular atrophy, type II" "Proximal spinal muscular atrophy type 2 (SMA2) is a chronic infantile form of proximal spinal muscular atrophy characterized by muscle weakness and hypotonia resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei." "" + "muscular dystrophy, adult-onset, with leukoencephalopathy" "" + "autosomal recessive limb-girdle muscular dystrophy type 2A" "Autosomal recessive limb-girdle muscular dystrophy type 2A (LGMD2A) is a subtype of autosomal recessive limb girdle muscular dystrophy characterized by a variable age of onset of progressive, typically symmetrical and selective weakness and atrophy of proximal shoulder- and pelvic-girdle muscles (gluteus maximus, thigh adductors, and muscles of the posterior compartment of the limbs are most commonly affected) without cardiac or facial involvement. Clinical manifestations include exercise intolerance, a waddling gait, scapular winging and calf pseudo-hypertrophy." "" + "qualitative or quantitative defects of calpain" "" + "autosomal recessive limb-girdle muscular dystrophy type 2B" "Autosomal recessive limb-girdle muscular dystrophy type 2B (LGMD2B) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by an onset in late adolescence or early adulthood of slowly progressive, proximal weakness and atrophy of shoulder and pelvic girdle muscles. Cardiac and respiratory muscles are not involved. Hypertrophy of the calf muscles and highly elevated serum creatine kinase levels are frequently observed." "" + "qualitative or quantitative defects of dysferlin" "" + "autosomal recessive limb-girdle muscular dystrophy type 2C" "Autosomal recessive limb-girdle muscular dystrophy type 2C (LGMD2C) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a childhood onset of progressive shoulder and pelvic girdle muscle weakness and atrophy frequently associated with calf hypertrophy, diaphragmatic weakness, and/or variable cardiac abnormalities. Mild to moderate elevated serum creatine kinase levels and positive Gowers sign are reported." "" + "qualitative or quantitative defects of gamma-sarcoglycan" "" + "neuromuscular disease with dilated cardiomyopathy" "True" + "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4" "Fukuyama type muscular dystrophy (FCMD) is a congenital progressive muscular dystrophy characterized by brain malformation (cobblestone lissencephaly), dystrophic changes in skeletal muscle, severe intellectual deficit, epilepsy and motor impairment." "" + "myopathy caused by variation in FKTN" "Any myopathy in which the cause of the disease is a variation in the FKTN gene." "" + "arthrogryposis due to muscular dystrophy" "" + "congenital muscular dystrophy-infantile cataract-hypogonadism syndrome" "Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome is characterized by congenital muscular dystrophy, infantile cataract and hypogonadism. It has been described in seven individuals from an isolated Norwegian village and in one unrelated individual. Transmission appears to be autosomal recessive." "" + "Ullrich congenital muscular dystrophy 1" "" + "collagen 6-related myopathy" "A qualitative or quantitative defect of collagen 6 disorder that covers a wide spectrum of musculoskeletal phenotypes caused by dominant and recessive mutations in the three major collagen VI genes: COL6A1, COL6A2, and COL6A3. These variants lead to a variety of overlapping phenotypes, ranging from severe congenital muscle weakness, hypotonia, torticollis and contractures with loss or non-development of ambulation on one end and childhood to adult onset mild muscle weakness, stiffness, and joint hyperlaxity on the other." "" + "muscular dystrophy, congenital, with rapid progression" "" + "autosomal recessive limb-girdle muscular dystrophy type 2H" "Autosomal recessive limb-girdle muscular dystrophy type 2H (LGMD2H) is a mild subtype of autosomal recessive limb girdle muscular dystrophy characterized by slowly progressive proximal muscle weakness and wasting of the pelvic and shoulder girdles with onset that usually occurs during the second or third decade of life. Clinical presentation is variable and can include calf psuedohypertrophy, joint contractures, scapular winging, muscle cramping and/or facial and respiratory muscle involvement." "" + "qualitative or quantitative defects of TRIM32" "" + "muscular hypertonia, lethal" "" + "Miyoshi myopathy" "A distal myopathy, characterized by weakness in the distal lower extremity posterior compartment (gastrocnemius and soleus muscles) and associated with difficulties in standing on tip toes." "" + "autosomal recessive distal myopathy" "Autosomal recessive form of distal myopathy." "" + "musk, inability to smell" "" + "myasthenia, congenital, refractory to acetylcholinesterase inhibitors" "" + "immune-mediated acquired neuromuscular junction disease" "" + "channelopathy" "A disease caused by disturbed function of ion channel subunits or the proteins that regulate them." "" + "congenital myasthenic syndrome 6" "Congenital myasthenic syndrome caused by mutation(s) in the CHAT gene, encoding choline O-acetyltransferase. It is inherited in an autosomal recessive manner." "" + "presynaptic congenital myasthenic syndrome" "" + "congenital myasthenic syndrome 10" "Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the DOK7 gene." "" + "postsynaptic congenital myasthenic syndrome" "" + "mycosis fungoides" "Classical mycosis fungoides is the most common type of mycosis fungoides (MF), a form of cutaneous T-cell lymphoma, and is characterized by slow progression from patches to more infiltrated plaques and eventually to tumors." "" + "mycosis fungoides and variants" "Mycosis fungoides (MF) and its variants represent the most common forms of cutaneous T-cell lymphomas. The term MF is restricted to the classical form characterized by the slow progression of patches, plaques and tumors, and to variants with a similar indolent course." "" + "acquired aplastic anemia" "An instance of aplastic anemia that is acquired during the lifetime of the individual." "" + "myeloperoxidase deficiency" "" + "myeloproliferative disease, autosomal recessive" "" + "juvenile myoclonic epilepsy" "Juvenile myoclonic epilepsy is the most common hereditary idiopathic generalized epilepsy syndrome and is characterized by myoclonic jerks of the upper limbs on awakening, generalized tonic-clonic seizures manifesting during adolescence and triggered by sleep deprivation, alcohol intake, and cognitive activities, and typical absence seizures (30% of cases)." "" + "Lafora disease" "Lafora disease (LD) is a rare, inherited, severe, progressive myoclonic epilepsy characterized by myoclonus and/or generalized seizures, visual hallucinations (partial occipital seizures), and progressive neurological decline." "" + "progressive myoclonus epilepsy" "A rare group of disorders characterized by the development of myoclonic and tonic-clonic epileptic seizures associated with progressive degeneration of the nervous system." "" + "Unverricht-Lundborg syndrome" "Unverricht-Lundborg disease (ULD) is a rare progressive myoclonic epilepsy disorder characterized by action- and stimulus-sensitive myoclonus, and tonic-clonic seizures with ataxia, but with only a mild cognitive decline over time." "" + "action myoclonus-renal failure syndrome" "Action myoclonus-renal failure syndrome (AMRF) is a rare epilepsy syndrome characterized by progressive myoclonus epilepsy in association with primary glomerular disease. Patients present with neurologic symptoms (including tremor, action myoclonus, tonic-clonic seizures, later ataxia and dysarthria) that may precede, occur simultaneously or be followed by renal manifestations including proteinuria that progresses to nephrotic syndrome and end-stage renal disease. In some patients, sensorimotor peripheral neuropathy, sensorineural hearing loss and dilated cardiomyopathy are associated symptoms." "" + "Carey-Fineman-Ziter syndrome" "Carey-Fineman-Ziter (CFZ) syndrome is a rare condition characterized by the association of hypotonia, Moebius sequence (bilateral congenital facial palsy with impairment of ocular abduction), Pierre-Robin sequence (micrognathia, glossoptosis, and high-arched or cleft palate), unusual face, and growth delay." "" + "myopathy, granulovacuolar lobular, with electrical myotonia" "" + "myopathy due to malate-aspartate shuttle defect" "" + "myopathy with abnormal lipid metabolism" "" + "carnitine palmitoyl transferase II deficiency, myopathic form" "The myopathic form of carnitine palmitoyltransferase II (CPT II) deficiency, an inherited metabolic disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the most common and the least severe form of CPT II deficiency." "" + "carnitine palmitoyltransferase II deficiency" "Carnitine palmitoyltransferase II (CPT II) deficiency is an inherited metabolic disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA). Three forms of CPT II deficiency have been described: a myopathic form, a severe infantile form and a neonatal form." "" + "carnitine palmitoyl transferase 1A deficiency" "Carnitine palmitoyltransferase 1A (CPT-1A) deficiency is an inborn error of metabolism that affects mitochondrial oxidation of long chain fatty acids (LCFA) in the liver and kidneys, and is characterized by recurrent attacks of fasting-induced hypoketotic hypoglycemia and risk of liver failure." "" + "inherited fatty acid metabolism disorder" "A group of genetic disorders that result from the inability to produce or use an enzyme required to oxidize fatty acids, resulting in an inability to generate energy from fatty acid sources." "" + "hereditary myopathy with lactic acidosis due to ISCU deficiency" "Aconitase deficiency is characterised by myopathy with severe exercise intolerance and deficiencies of skeletal muscle succinate dehydrogenase and aconitase." "" + "mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes" "True" + "myopathy with giant abnormal mitochondria" "" + "myopathy, myosin storage, autosomal recessive" "" + "hyaline body myopathy" "" + "myopathy, centronuclear, 2" "Any centronuclear myopathy in which the cause of the disease is a mutation in the BIN1 gene." "" + "autosomal recessive centronuclear myopathy" "Autosomal recessive centronuclear myopathy (AR-CNM) is an inherited neuromuscular disorder defined by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy." "" + "congenital myotonia" "" + "congenital fiber-type disproportion myopathy" "A rare genetic disorder caused by mutations in the TPM3, ACTA1, RYR1 or SEPN1 genes. It is inherited in an autosomal dominant or recessive pattern and rarely in an X-linked pattern. It manifests with myopathy throughout the body, particularly in the muscles of the shoulders, upper arms, hips, and thighs. Affected individuals may have contractures, lordosis, or scoliosis. In a minority of cases mild to severe breathing problems may occur." "" + "qualitative or quantitative defects of alpha-actin" "" + "qualitative or quantitative defects of selenoprotein N1" "" + "qualitative or quantitative defects of tropomyosin" "" + "TPM3-related myopathy" "TPM3-related myopathy is a disorder of the musculoskeletal system that covers a wide spectrum of phenotypes and is caused by pathogenic variants in the skeletal muscle γ-Tropomyosin gene. These variants lead to a variety of overlapping adult onset and congenital myopathies characterized by muscle weakness, hypotonia, motor delay, myopathic facies, scoliosis, and sometimes respiratory involvement. Histologic findings on skeletal muscle biopsy are variable with nemaline and intranuclear bodies, cap-like lesions, fiber-type disproportion, and dystrophic features even in patients with the same mutation." "" + "congenital multicore myopathy with external ophthalmoplegia" "An autosomal recessive condition caused by mutation(s) in the RYR1 gene, encoding ryanodine receptor 1. It may be characterized clinically by neonatal hypotonia, delayed motor development, and generalized muscle weakness, and amyotrophy. Pathologically, the absence of mitochondria and focal disorganization of the sarcomere appear as \"minicores\" on ATPase staining as a result of focal defects in oxidative activity." "" + "multiminicore myopathy" "Multi-minicore Disease (MmD) is a hereditary neuromuscular disorder characterized by multiple cores on muscle biopsy and clinical features of a congenital myopathy." "" + "myopia 18, autosomal recessive" "" + "myosclerosis" "Myosclerosis is a rare, genetic, non-dystrophic myopathy characterized by early, diffuse, progressive muscle and joint contractures that result in severe limitation of movement of axial, proximal, and distal joints, walking difficulties in early childhood and toe walking. Patients typically present thin, sclerotic muscles with a woody consistency, mild girdle and proximal limb weakness with moderate distal weakness and scoliosis. Muscle biopsy shows partial collagen VI deficiency at the myofiber basement membrane and absent collagen VI around most endomysial/perimysial capillaries." "" + "myotonia congenita, autosomal recessive" "Autosomal recessive form of myotonia congenita." "" + "Richieri Costa-da Silva syndrome" "" + "Schwartz-Jampel syndrome" "A rare, genetic neuromuscular disease characterized by permanent myotonia, mask-like facies (with blepharospasm, narrow palpebral fissures, small mouth with pursed lips and puckered chin) , and chondrodysplasia (variably manifesting with short stature, pectus carinatum, kyphoscoliosis, bowing of long bones, epiphyseal, metaphyseal, and hip dysplasia)." "" + "myxedema" "A condition characterized by severe hypothyroidism that is caused by autoimmune thyroid gland disorders, surgical reduction of thyroid tissue, radiation exposure, and viral infections. Signs and symptoms include generalized fatigue, lethargy, increased body weight, pale, edematous and thickened skin, low blood pressure, constipation and cold intolerance." "" + "familial atrial myxoma" "" + "inherited cardiac tumor" "An instance of heart cancer that is caused by a modification of the individual's genome." "" + "Keipert syndrome" "A rare multiple congenital anomalies syndrome characterized by facial dysmorphism (hypertelorism, broad and high nasal bridge, depressed nasal ridge, short columella, underdeveloped maxilla, and prominent cupid-bow upper lip vermillion), mild to severe congenital sensorineural hearing loss, and skeletal abnormalities consisting of brachytelephalangy and broad thumbs and halluces with large, rounded epiphyses. Additional manifestations that have been reported include pulmonary valve stenosis, voice hoarseness and renal agenesis." "" + "Nathalie syndrome" "Nathalie syndrome is characterised by deafness, cataract, muscular atrophy, skeletal abnormalities, growth retardation, underdeveloped secondary sexual characteristics, and electrocardiographic abnormalities. It has been described in a Dutch family: in three sisters (one named Nathalie) and their brother." "" + "Bailey-Bloch congenital myopathy" "Bailey-Bloch congenital myopathy is a neuromuscular disorder characterized by weakness, arthrogryposis, kyphoscoliosis, short stature, cleft palate, ptosis and susceptibility to malignant hyperthermia during anesthesia." "" + "mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies" "Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies is a group of clinically heterogeneous diseases, commonly defined by lack of cellular energy due to defects of oxidative phosphorylation (OXPHOS), resulting from pathogenic mutations in the nuclear DNA. Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies includes diseases classified according to defects in: genes encoding structural components of OXPHOS complexes (such as Leigh syndrome, coenzyme Q10 deficiency); genes encoding assembly factors of OXPHOS complexes (such as GRACILE syndrome); genes altering the stability of mitochondrial DNA (such as autosomal dominant progressive external ophthalmoplegia, mitochondrial DNA depletion syndrome); mitochondrial protein synthesis." "True" + "supranuclear oculomotor palsy" "Oculomotor palsy that arises from lesions in the supranuclear pathways controlling extraocular movement." "" + "nail-patella-like renal disease" "Nail-patella-like renal disease is a severe nephropathy characterised by renal dysfunction, proteinuria, oedema and microscopic haematuria. It has been described in three brothers, two of which died from end-stage renal insufficiency." "" + "nemaline myopathy 2" "An autosomal recessive inherited myopathy caused by mutations in the NEB gene. It is characterized by generalized hypotonia and skeletal muscle weakness." "" + "proteosome-associated autoinflammatory syndrome" "" + "atelosteogenesis type II" "Atelosteogenesis II is a lethal perinatal bone dysplasia characterized by limb shortening, normal sized skull with cleft palate, hitchhiker thumbs, distinctive facial dysmorphism and radiographic skeletal features, caused by mutations in the diastrophic dysplasia sulfate transporter gene." "" + "nephronophthisis 1" "Progressive tubulointerstitial nephritis inherited in an autosomal recessive manner. It is caused by mutations in the NPHP1 gene. Patients present with anemia, polyuria, and polydipsia during childhood. The progressive bilateral kidney damage results in renal failure." "" + "nephronophthisis" "Progressive tubulointerstitial injury, inherited in an autosomal recessive pattern, caused by mutations in genes involved in ciliary function, which may result in an end stage renal failure." "" + "nephropathy - deafness - hyperparathyroidism syndrome" "Nephropathy-deafness-hyperparathyroidism syndrome is characterised by renal failure without haematuria, parathyroid hyperplasia and sensorineural deafness. It has been described in five children born to consanguineous patents. The mode of inheritance appears to be autosomal recessive." "" + "obsolete nephrosialidosis" "" "true" + "nephrosis-deafness-urinary tract-digital malformations syndrome" "Nephrosis-deafness-urinary tract-digital malformations syndrome is characterised by anomalies of the urinary tract, thumbs and big toes, deafness and nephrosis. It has been described in five brothers. The mode of transmission has not been clearly established but seems to be either autosomal recessive or X-linked dominant." "" + "congenital nephrotic syndrome, Finnish type" "Congenital nephrotic syndrome, Finnish type is characterised by protein loss beginning during foetal life." "" + "nephrotic syndrome, type 4" "Nephrotic syndrome within the first three motnhs of life, characterized initially by increased mesangial matrix, with or without hypertrophy and hyperplasia of podocytes, and eventual glomerular sclerosis." "" + "hyperinsulinemic hypoglycemia, familial, 1" "Any hyperinsulinemic hypoglycemia in which the cause of the disease is a mutation in the ABCC8 gene." "" + "Netherton syndrome" "Netherton syndrome (NS) is a skin disorder characterized by congenital ichthyosiform erythroderma (CIE), a distinctive hair shaft defect (trichorrhexis invaginata; TI) and atopic manifestations." "" + "autosomal ichthyosis syndrome with prominent hair abnormalities" "True" + "genetic keratinization disorder associated with ocular features" "True" + "obsolete eyebrow/eyelashes structural anomaly" "" "true" + "Neu-Laxova syndrome 1" "Any Neu-Laxova syndrome in which the cause of the disease is a mutation in the PHGDH gene." "" + "galactosialidosis" "A lysosomal storage disease characterized by coarse facial features, macular ''cherry red spot'', and dysostosis multiplex. Clinical presentation can be heterogenous ranging from a severe, early-onset, rapidly progressive infantile form to late onset, slowly progressive juvenile/adult form." "" + "metabolic disease with macular cherry-red spot" "True" + "sialidosis type 2" "A rare lysosomal storage disease, and the severe, early onset form of sialidosis characterized by a progressively severe mucopolysaccharidosis-like phenotype (coarse facies, dysostosis multiplex, hepatosplenomegaly), macular cherry-red spots as well as psychomotor and developmental delay. ST-2 displays a broad spectrum of clinical severity with antenatal/congenital, infantile and juvenile presentations." "" + "sialidosis" "Sialidosis is a lysosomal storage disease, belonging to the group of oligosaccharidoses or glycoproteinoses, with a wide clinical spectrum that is divided into two main clinical subtypes: sialidosis type I, the milder, non dysmorphic form of the disease characterized by gait abnormalities, progressive visual loss, bilateral macular cherry red spots and myoclonus, that presents in adolescence or adulthood (second or third decade of life); and sialidosis type II the more severe, early onset form, characterized by a progressive and severe mucopolysaccharidosis-like phenotype with coarse facies, visceromegaly, dysostosis multiplex, and developmental delay. Bilateral macular cherry red spots are also present. Sialidosis type II has been further divided into congenital (with hydrops fetalis), infantile and juvenile presentations." "" + "obsolete infantile neuroaxonal dystrophy" "" "true" + "neurofaciodigitorenal syndrome" "Neurofaciodigitorenal syndrome is a rare, multiple developmental anomalies syndrome characterized by neurological abnormalities (including megalencephaly, hypotonia, intellectual disability, abnormal EEG), dysmorphic facial features (high prominent forehead, grooved nasal tip, ptosis, ear anomalies) and acrorenal defects (such as triphalangism, broad halluces, unilateral renal agenesis). Additionally, intrauterine growth restriction, short stature and congenital heart defects may be associated. There have been no further descriptions in the literature since 1997." "" + "neuroblastoma, susceptibility to" "" + "neuroectodermal melanolysosomal disease" "Elejalde syndrome (ES) is characterized by silvery to leaden hair, bronze skin colour in sun-exposed areas and severe neurological impairment." "" + "neurologic disease, infantile multisystem, with osseous fragility" "" + "neuronal ceroid lipofuscinosis 1" "A condition associated with mutation(s) in the PPT1 gene, encoding palmitoyl-protein thioesterase 1. The condition is one of a group of genetically heterogeneous neurodegenerative disorders, characterized by accumulation of intracellular lipopigments." "" + "infantile neuronal ceroid lipofuscinosis" "A form of neuronal ceroid lipofuscinosis (NCL) characterized by onset during the second half of the first year of life and rapid mental and motor deterioration leading to loss of all psychomotor abilities." "" + "neuronal ceroid lipofuscinosis 5" "Neuronal ceroid lipofuscinosis 5 (CLN5-NCL) is a rare condition that affects the nervous system. Signs and symptoms of the condition generally develop between ages 4.5 and 7 years, although later onset cases have been reported. Affected people may experience loss of muscle coordination (ataxia), seizures that do not respond to medications, muscle twitches (myoclonus), visual impairment, and cognitive/motor decline. It occurs predominantly in the Finnish population. CLN5-NCL is caused by changes (mutations) in the CLN5 gene and is inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms." "" + "hereditary sensory and autonomic neuropathy type 4" "Hereditary sensory and autonomic neuropathy, type 4 (HSAN4) is an inherited disorder characterized by anhidrosis, insensitivity to pain, self-mutilating behavior and episodes of fever." "" + "Navajo neurohepatopathy" "" + "hereditary sensory and autonomic neuropathy with spastic paraplegia" "This syndrome is characterized by the association of an axonal sensory and autonomic neuropathy with spastic paraplegia." "" + "autosomal recessive complex spastic paraplegia" "Autosomal recessive form of complex hereditary spastic paraplegia." "" + "giant axonal neuropathy 1" "Giant axonal neuropathy (GAN) is a degenerative disorder that is characterised by a progressive motor and sensitive peripheral and central nervous system neuropathy." "" + "neuropathy, hereditary motor and sensory, with excessive myelin folding complex, autosomal recessive" "" + "neuropathy, hereditary sensory, atypical" "A hereditary sensory neuropathy characterized by late onset of sensory ataxia without ulcerating acropathy or autonomic abnormalities." "" + "neuropathy, painful" "" + "obsolete neurovisceral storage disease with Curvilinear bodies" "" "true" + "neutropenia, lethal congenital, with eosinophilia" "" + "neutrophil actin dysfunction" "Solitary or multiple, slightly raised, pigmented lesions with irregular borders, usually measuring more than 0.6cm in greatest dimension. Morphologically, there is melanocytic atypia and the differential diagnosis from melanoma may be difficult. Patients are at an increased risk for the development of melanoma." "" + "Niemann-Pick disease type A" "Niemann-Pick disease type A is a very severe subtype of Niemann-Pick disease, an autosomal recessive lysosomal disease, and is characterized clinically by onset in infancy or early childhood with failure to thrive, hepatosplenomegaly, and rapidly progressive neurodegenerative disorders." "" + "Niemann-Pick disease, type C1" "Type C Niemann-Pick disease associated with a mutation in the gene NPC1, encoding Niemann-Pick C1 protein." "" + "Niemann-Pick disease type C" "NPC is a complex lipid storage disease mainly characterized by the accumulation of unesterified cholesterol in the late endosomal/lysosomal compartment." "" + "congenital stationary night blindness 1B" "Any congenital stationary night blindness in which the cause of the disease is a mutation in the GRM6 gene." "" + "mosaic variegated aneuploidy syndrome 1" "Any mosaic variegated aneuploidy syndrome in which the cause of the disease is a mutation in the BUB1B gene." "" + "Norman-Roberts syndrome" "Lissencephaly syndrome, Norman-Roberts type is characterised by the association of lissencephaly type I with craniofacial anomalies (severe microcephaly, a low sloping forehead, a broad and prominent nasal bridge and widely set eyes) and postnatal growth retardation." "" + "microlissencephaly" "Microlissencephaly describes a heterogenous group of a rare cortical malformations characterized by lissencephaly in combination with severe congenital microcephaly, presenting with spasticity, severe developmental delay, and seizures and with survival varying from days to years." "" + "cystic hygroma" "A benign lymphatic neoplasm usually arising from the neck and characterized by cystic dilation of the lymphatic vessels." "" + "common cystic lymphatic malformation" "" + "nystagmus, congenital, autosomal recessive" "" + "obesity-hypoventilation syndrome" "Hypoventilation syndrome in very obese persons with excessive adipose tissue around the abdomen and diaphragm is characterized by diminished to absent ventilatory chemoresponsiveness; chronic hypoxia; hypercapnia; polycythemia; and long periods of sleep during day and night (hypersomnolence). It is a condition often related to obstructive sleep apnea but can occur separately." "" + "ocular motor apraxia, Cogan type" "Ocular motor apraxia, Cogan type is characterised by impairment of voluntary horizontal eye movements and compensatory head thrust. Around 50 cases have been described so far. The oculomotor manifestations tend to improve with age but the syndrome may also be associated with learning and speech difficulties, or, in some cases, cerebral malformations. Both sporadic and familial forms have been described, with sporadic forms being more frequent. The mode of transmission of the familial form has not yet been clearly established. A gene located on the long arm of chromosome 2, near to the NPHP1 gene involved in nephronophthisis, may be associated with ocular motor apraxia, Cogan type." "" + "ocular myopathy with curare sensitivity" "" + "oculocerebral hypopigmentation syndrome of Preus" "" + "oculocerebral hypopigmentation syndrome, Cross type" "Oculocerebral hypopigmentation syndrome, Cross type is a rare congenital syndrome characterized by cutaneous and ocular hypopigmentation, various ocular anomalies (e.g. corneal and lens opacity, spastic ectropium, and/or nystagmus), growth deficiency, intellectual deficit and other progressive neurologic anomalies such as spastic tetraplegia, hyperreflexia, and/or athetoid movements. The clinical picture varies among patients and may also include other anomalies such as urinary tract abnormalities, Dandy-Walker malformations, and/or bilateral inguinal hernia." "" + "oculodentodigital dysplasia, autosomal recessive" "Autosomal recessive form of oculodentodigital dysplasia." "" + "oculo-palato-cerebral syndrome" "Oculopalatocerebral syndrome is characterised by the association of four anomalies: intellectual deficit, microcephaly, palate anomalies and ocular abnormalities." "" + "3MC syndrome 1" "Any 3MC syndrome in which the cause of the disease is a mutation in the MASP1 gene." "" + "oculotrichodysplasia" "Oculotrichodysplasia is characterised by retinitis pigmentosa, trichodysplasia, dental anomalies, and onychodysplasia. It has been described in two siblings (brother and sister) born to first cousin parents. Transmission appears to be autosomal recessive." "" + "oculorenocerebellar syndrome" "" + "odonto-onycho-dermal dysplasia" "A form of ectodermal dysplasia characterised by hyperkeratosis and hyperhidrosis of the palms and soles, atrophic malar patches, hypodontia, conical teeth, onychodysplasia, and dry and sparse hair." "" + "cloacal exstrophy" "A major birth defect representing the severe end of the spectrum of the exstrophy-epispadias complex (EEC) characterized by omphalocele, exstrophy, imperforate anus and spinal defects (also referred to as the OEIS complex), often associated with other malformations." "" + "bladder exstrophy-epispadias-cloacal exstrophy complex" "A spectrum of genitourinary malformations ranging in severity from epispadias (E) and classical bladder exstrophy (CEB) to exstrophy of the cloaca (EC) as the most severe form. Depending on severity, the EEC may involve the urinary system, the musculoskeletal system, the pelvis, the pelvic floor, the abdominal wall, the genitalia and sometimes the spine and the anus." "" + "Oguchi disease-1" "Any Oguchi disease in which the cause of the disease is a mutation in the SAG gene." "" + "Oguchi disease" "Oguchi disease is an autosomal recessive retinal disorder characterized by congenital stationary night blindness and the Mizuo-Nakamura phenomenon." "" + "spermatogenic failure 1" "" + "Oliver syndrome" "Oliver syndrome is a very rare syndrome characterized by intellectual deficit, postaxial polydactyly, and epilepsy." "" + "olivopontocerebellar atrophy II, autosomal recessive" "" + "autosomal recessive omodysplasia" "Autosomal recessive form of omodysplasia." "" + "lethal omphalocele-cleft palate syndrome" "Lethal omphalocele-cleft palate syndrome is characterized by the association of omphalocele and cleft palate. It has been described in three daughters of normal unrelated parents. They were all diagnosed at birth. One had omphalocele, posterior cleft palate, and uterus bicornuatus; she died at 2 months. The second had omphalocele, cleft uvula, and hydrocephalus and died at 4 months; the third had omphalocele and cleft palate and died at 1 year. This syndrome is likely to be inherited as an autosomal recessive condition." "" + "Onychotrichodysplasia and neutropenia" "" + "ophthalmoplegia totalis with ptosis and miosis" "" + "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1" "Any autosomal recessive progressive external ophthalmoplegia in which the cause of the disease is a mutation in the POLG gene." "" + "autosomal recessive progressive external ophthalmoplegia" "Autosomal recessive form of progressive external ophthalmoplegia." "" + "ophthalmoplegic neuromuscular disorder with abnormal mitochondria" "" + "opsismodysplasia" "Opsismodysplasia is a skeletal dysplasia characterized by congenital dwarfism and facial dysmorphism." "" + "optic atrophy 6" "" + "autosomal recessive optic atrophy" "" + "3-methylglutaconic aciduria type 3" "3-methylglutaconic aciduria type III (MGA III) is an organic aciduria characterised by the association of optic atrophy and choreoathetosis with 3-methylglutaconic aciduria." "" + "optic atrophy, hearing loss, and peripheral neuropathy, autosomal recessive" "" + "Charcot-Marie-Tooth disease X-linked recessive 5" "X-linked Charcot-Marie-Tooth disease type 5 is a rare, genetic, peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the infancy- to childhood-onset of: 1) progressive distal muscle weakness and atrophy (first appearing and more prominent in the lower extremities than the upper) which usually manifests with foot drop and gait disturbance, 2) bilateral, profound, prelingual sensorineural hearing loss and 3) progressive optic neuropathy. Females are asymptomatic and do not display the phenotype." "" + "nonarteritic anterior ischemic optic neuropathy, susceptibility to" "" + "Opticocochleodentate degeneration" "" + "oral sensibility, disturbance of" "" + "ichthyosis-oral and digital anomalies syndrome" "Ichthyosis-oral and digital anomalies syndrome is characterised by ichthyosis, unusual facies (small mouth with a thin upper lip and lower lip with a midline groove) and digital anomalies (tapered fingers with a lack of distal flexion creases and wide spacing between the second and third fingers). It has been described in two sibs born to first cousin parents. Transmission appears to be autosomal recessive." "" + "orofaciodigital syndrome III" "Oral-facial-digital syndrome, type 3 is characterized by anomalies of the mouth, eyes and digits, associated with severe intellectual deficit." "" + "orofaciodigital syndrome IV" "Oral-facial-digital syndrome, type 4 is characterized by lingual hamartoma, postaxial polysyndactyly of hands and feet, and mesomelic shortening of the legs with supinate equinovarus feet." "" + "orofaciodigital syndrome IX" "Oral-facial-digital syndrome, type 9 is characterized by highly arched palate with bifid tongue and bilateral supernumerary lower canines, hamartomatous tongue, multiple frenula, hypertelorism, telecanthus, strabismus, broad and/or bifid nasal tip, short stature, bifid halluces, forked metatarsal, poly- and syndactyly, mild intellectual deficit and specific retinal abnormalities (bilateral optic disc coloboma and retinal dysplasia with partial detachment)." "" + "ornithine aminotransferase deficiency" "A very rare inherited retinal dystrophy characterized by progressive chorioretinal atrophy, myopia and early cataract." "" + "inborn disorder of ornithine metabolism" "An acquired metabolic disease that is has its basis in the disruption of ornithine metabolic process." "" + "orotic aciduria" "An extremely rare autosomal recessive inherited disorder caused by mutations in the UMPS gene. It is characterized by deficiency of the activity of the pyrimidine pathway enzyme uridine 5'-monophosphate (UMP) synthase. Clinical manifestations include growth retardation, anemia, and increased excretion of orotic acid in the urine." "" + "intellectual disability-cataracts-calcified pinnae-myopathy syndrome" "Intellectual disability-cataracts-calcified pinnae-myopathy syndrome is a rare, genetic intellectual disability syndrome characterized by macrocephaly, hypotonia, dysmorphic facial features (wide forehead, ptosis, downslanting palpebral fissures, enlarged and calcified external ears, large jaw), sparse body hair, tall stature, and intellectual disability. Hearing loss, insulin-resistant diabetes, and progressive distal muscle wasting (leading to joint contractures) have also been reported in adulthood. Rare manifestations include behavioral abnormalities (aggression and restlessness), hypothyroidism, cerebral calcification, ataxia, and peripheral neuropathy." "" + "obsolete pachydermoperiostosis" "" "true" + "Blount disease, adolescent" "" + "familial osteodysplasia, Anderson type" "Familial osteodysplasia, Anderson type is a rare, genetic dysostosis disorder characterized by craniofacial bone abnormalities (i.e. midface hypoplasia, broad, flat nasal bridge, narrow, thin prognathic mandible with pointed chin, malocclusion, partial dental agenesis) associated with additional osseous anomalies, including scoliosis, calvarial thinning, pointed spinous processes, clinodactyly and abnormal phalanges. Elevated erythrocyte sedimentation rate, hyperuricemia and hypertension have also been reported. There have been no further descriptions in the literature since 1982." "" + "osteodysplasty, precocious, of Danks, Mayne, and Kozlowski" "" + "congenital osteogenesis imperfecta-microcephaly-cataracts syndrome" "Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome is characterised by multiple fractures in the prenatal period, microcephaly and bilateral cataracts. It has been described in three infants all of whom died in utero or a few hours after birth. The mode of inheritance appears to be autosomal recessive." "" + "osteogenesis imperfecta type 3" "Osteogenesis imperfecta type III is a severe type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. The main signs of type III include very short stature, a triangular face, severe scoliosis, grayish sclera, and dentinogenesis imperfecta (DI)." "" + "osteogenesis imperfecta type 9" "Any osteogenesis imperfecta in which the cause of the disease is a mutation in the PPIB gene." "" + "Bruck syndrome 1" "Any Bruck syndrome in which the cause of the disease is a mutation in the FKBP10 gene." "" + "Bruck syndrome" "Bruck syndrome is characterised by the association of osteogenesis imperfecta and congenital joint contractures." "" + "osteoid osteoma" "A small, benign, bone-forming neoplasm that can arise from any bone but more frequently affects the long bones. The central portion of the neoplasm (nidus) contains differentiated osteoblasts which produce osteoid and sometimes bone. The lesion is usually surrounded by hypervascular sclerotic bone and has limited growth potential. Clinical signs and symptoms include pain and localized tenderness, at the site of the lesion. The pain may be intense but in the majority of cases it is completely alleviated by non-steroidal anti-inflammatory drugs. Prognosis is excellent and recurrences are rare." "" + "benign osteogenic neoplasm" "A non-metastasizing bone-forming neoplasm. This category includes osteoma, osteoid osteoma, and osteoblastoma." "" + "multicentric osteolysis, nodulosis, and arthropathy" "A rare, autosomal recessive inherited syndrome caused by mutations in the MMP2 gene. It is characterized by the presence of multiple, painless subcutaneous nodules, osteolysis particularly in the hands and feet, osteoporosis, and arthropathy." "" + "autosomal recessive distal osteolysis syndrome" "Autosomal recessive distal osteolysis syndrome is an early-onset distal osteolysis characterised by severe resorption of the hands and feet and absence of the distal and middle phalanges. It has been described in a son and daughter born to consanguineous parents. Other manifestations include distal muscular hypertrophy, flexion contractures, short stature, mild intellectual deficit and characteristic facies (maxillary hypoplasia, exophthalmos, and a broad nasal tip). It is transmitted as an autosomal recessive trait." "" + "osteoma of middle ear" "" + "osteomalacia, sclerosing, with cerebral calcification" "" + "chronic recurrent multifocal osteomyelitis" "Chronic non bacterial osteomyelitis (CNO), also known as chronic recurrent multifocal osteomyelitis (CRMO), is a chronic autoinflammatory syndrome that is characterized by multiple foci of painful swelling of bones, mainly in the metaphyses of the long bones, in addition to the pelvis, the shoulder girdle and the spine." "" + "pyogenic autoinflammatory syndrome" "" + "osteopenia-intellectual disability-sparse hair syndrome" "Kaler-Garrity-Stern syndrome is a rare syndrome, described in two sisters of Mennonite descent, characterized by sparse hair, osteopenia, intellectual disability, minor facial abnormalities, joint laxity and hypotonia. There have been no further descriptions in the literature since 1992." "" + "autosomal recessive osteopetrosis 1" "Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the TCIRG1 gene." "" + "autosomal recessive osteopetrosis" "An autosomal recessive form of osteopetrosis caused by mutation(s) in at least 8 genes related to osteoclast function. This condition is characterized by the failure of osteoclasts to resorb bone, resulting in impaired bone modeling/remodeling, and skeletal fragility despite increased bone mass; it is also associated with hematopoietic insufficiency, hypocalcemia, disturbed tooth eruption, nerve entrapment syndromes, and growth impairment. Some cases are also associated with progressive neurological deterioration." "" + "autosomal recessive osteopetrosis 2" "Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the TNFSF11 gene." "" + "autosomal recessive osteopetrosis 5" "Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the OSTM1 gene." "" + "infantile osteopetrosis with neuroaxonal dysplasia" "This syndrome is characterized by osteopetrosis, agenesis of the corpus callosum, cerebral atrophy and a small hippocampus." "" + "autosomal recessive osteopetrosis 3" "Osteopetrosis with renal tubular acidosis is a rare disorder characterized by osteopetrosis, renal tubular acidosis (RTA), and neurological disorders related to cerebral calcifications." "" + "obsolete idiopathic juvenile osteoporosis" "" "true" + "osteoporosis-pseudoglioma syndrome" "Osteoporosis pseudoglioma syndrome is a very rare autosomal recessive disorder characterized by congenital or infancy-onset blindness and severe juvenile-onset osteoporosis and spontaneous fractures." "" + "lethal osteosclerotic bone dysplasia" "Lethal osteosclerotic bone dysplasia is defined by generalized osteosclerosis with periosteal bone formation, characteristic facial dysmorphism, brain abnormalities including intracerebral calcifications, and neonatal lethal course." "" + "otoonychoperoneal syndrome" "" + "primary hyperoxaluria type 1" "A rare disorder of glyoxylate metabolism characterized by the accumulation of oxalate due to a deficiency of the peroxisomal hepatic enzyme L-alanine: glyoxylate aminotransferase (AGT). Clinical presentation is variable, ranging from occasional symptomatic nephrolithiasis to nephrocalcinosis and end-stage renal disease with systemic involvement." "" + "alanine glyoxylate aminotransferase deficiency" "Any disorder of plasmalogen biosynthesis in which the cause of the disease is a mutation in the AGXT gene." "" + "primary hyperoxaluria type 2" "Primary hyperoxaluria (PH) type 2 is a rare disorder of glyoxylate metabolism caused by the deficiency of the enzyme glyoxylate reductase/hydropyruvate reductase (GR/HPR) characterized by a childhood onset with clinical manifestations that include recurrent nephrolithiasis, nephrocalcinosis and end-stage renal disease with subsequent systemic oxalosis." "" + "5-oxoprolinase deficiency" "5-Oxoprolinase deficiency is clinically a very heterogeneous condition characterized by 5-oxoprolinuria." "" + "PA polymorphism of alpha-2-globulin" "" + "pachyonychia congenita, autosomal recessive" "" + "palant cleft palate syndrome" "" + "pallidal degeneration, progressive, with retinitis pigmentosa" "True" + "polymalformative genetic syndrome with increased risk of developing cancer" "Polymalformative genetic syndrome with increased risk of developing cancer (PGSIRC) comprises a wide range of syndromes characterized by congenital malformations with a high risk of developing tumors including up to 50 different rare diseases." "True" + "obsolete pancreatic insufficiency, combined exocrine" "" "true" + "subacute sclerosing panencephalitis" "Subacute sclerosing panencephalitis (SSPE) is a chronic progressive encephalitis that develops a few years after measles infection and presents with a demyelination of the cerebral cortex." "" + "chronic encephalitis" "Chronic form of encephalitis." "" + "pancreatitis, sclerosing cholangitis, and sicca complex" "" + "choroid plexus papilloma" "Papilloma of the choroid plexus is a rare benign type of choroid plexus tumor, accounting for 1% of all brain tumors, often occurring in the fourth ventricle (in adults) and the lateral ventricle (in children) but sometimes arising ectopically in the brain parenchyma, and presenting with nausea, vomiting, papilledema, abnormal eye movements, as well as enlarged head circumference, seizures and gait impairment due to an increase in intracranial pressure." "" + "benign choroid plexus neoplasm" "" + "Parana hard-skin syndrome" "A rare disorder characterized by rigid, thick skin that covers the entire body and affects movements. The movement of the chest and abdomen is severely restricted. Affected individuals develop respiratory insufficiency which may lead to death." "" + "progressive supranuclear palsy-parkinsonism syndrome" "PSP-parkinsonism (PSP-P) is an atypical variant of progressive supranuclear palsy (PSP), a rare late-onset neurodegenerative disease." "" + "atypical progressive supranuclear palsy syndrome" "Atypical progressive supranuclear palsy (atypical PSP) is a group of clinical syndromes associated with underlying PSP-tau pathology, that do not conform to the classic presentation of PSP (Richardson syndrome), a rare late-onset neurodegenerative disease. The group comprises PSP-Parkinsonism (PSP-P), PSP-Pure akinesia with gait freezing (PSP-PAGF), PSP-corticobasal syndrome (PSP-CBS) and PSP-progressive non fluent aphasia (PSP-PNFA)." "" + "Partington-Anderson syndrome" "" + "PEHO syndrome" "PEHO (Progressive encephalopathy with Edema, Hypsarrhythmia and Optic atrophy) syndrome is a rare neurodegenerative disorder belonging to the group of infantile progressive encephalopathies." "" + "Pelger-Huet-like anomaly and episodic fever with abdominal pain" "" + "hypomyelinating leukodystrophy 3" "Any leukodystrophy in which the cause of the disease is a mutation in the AIMP1 gene." "" + "Pelizaeus-Merzbacher-like disease" "Pelizaeus-Merzbacher like disease (PMLD) is an autosomal recessive leukodystrophy sharing identical clinical and radiological features as X-linked Pelizaeus-Merzbacher disease (PMD)." "" + "pellagra-like syndrome" "" + "pelviscapular dysplasia" "Pelviscapular dysplasia (Cousin syndrome) is characterized by the association of pelviscapular dysplasia with epiphyseal abnormalities, congenital dwarfism and facial dysmorphism." "" + "pentosuria" "Pentosuria is an inborn error of metabolism which is characterized by the excretion of 1 to 4 g of the pentose L-xylulose in the urine per day." "" + "disorders of pentose/polyol metabolism" "" + "pericardial effusion, chronic" "Chronic form of pericardial effusion (disease)." "" + "dissecting cellulitis of the scalp" "Dissecting cellulitis of the scalp is a rare chronic suppurative dermatosis of the scalp that mainly affects black men and that is characterized by multiple painful inflammatory follicular and perifollicular nodules, pustules, and abscesses that interconnect via sinus tracts and eventually result in scarring alopecia." "" + "hyperimmunoglobulinemia D with periodic fever" "Hyperimmunoglobinemia D with periodic fever (HIDS) is a rare autoinflammatory disease characterized by periodic attacks of fever and a systemic inflammatory reaction (cervical lymphadenopathy, abdominal pain, vomiting, diarrhea, arthralgias and skin signs)." "" + "mevalonate kinase deficiency" "" + "periodontitis, chronic, adult" "" + "peripheral neuropathy, ataxia, focal necrotizing encephalopathy, and spongy degeneration of brain" "" + "constitutional megaloblastic anemia due to vitamin B12 metabolism disorder" "True" + "Imerslund-Grasbeck syndrome" "Imerslund-Grasbeck syndrome (IGS) or selective vitamin B12 (cobalamin) malabsorption with proteinuria is a rare autosomal recessive disorder characterized by vitamin B12 deficiency commonly resulting in megaloblastic anemia, which is responsive to parenteral vitamin B12 therapy and appears in childhood." "" + "peroneus tertius muscle, absence of" "" + "d-bifunctional protein deficiency" "A genetic disorder that affects the ability of the body to effectively break down fat from our diet. It is typically characterized by hypotonia (low muscle tone) and seizures in the newborn period. Other symptoms include unusual facial features and an enlarged liver (hepatomegaly). Most babies with this condition nevergain anydevelopmental skills and do not survive past the age of 2. DBP deficiency is caused by mutations in the HSD17B4 gene and is inherited in an autosomal recessive manner. Some researchers have suggested classifying DBP deficiency into three subtypes, depending on how severely the mutation in the HSD17B4 gene affects the function of the gene and the protein that it codes for. Almost all individuals with types I, II, and III have similar signs and symptoms. A fourth subtype has additionally been proposed for individuals that have less severe symptoms. While there is no cure for DBP deficiency, treatment is focused on improving nutrition and growth, controlling symptoms, and limiting the progression of liver disease." "" + "disorder of peroxisomal beta oxidation" "" + "Peters plus syndrome" "An autosomal recessively inherited syndromic developmental defect of the eye characterized by a variable phenotype including Peters anomaly and other anterior chamber eye anomalies, short limbs, limb abnormalities (i.e. rhizomelia and brachydactyly), characteristic facial features (upper lip with cupid bow, short palpebral fissures), cleft lip/palate, and mild to severe developmental delay/intellectual disability. Other associated abnormalities reported in some patients include congenital heart defects (i.e. hypoplastic left heart, absence of right pulmonary vein, bicuspid pulmonary valve), genitourinary anomalies (hydronephrosis, renal hypoplasia, renal and ureteral duplication, multicystic dysplastic kidneys, glomerulocystic kidneys) and congenital hypothyroidism." "" + "persistent Mullerian duct syndrome" "Persistent Mullerian duct syndrome (PMDS) is a rare disorder of sex development (DSD) characterized by the persistence of Müllerian derivatives, the uterus and/or fallopian tubes, in otherwise normally virilized boys." "" + "46,XY disorder of sex development of endocrine origin" "" + "Pfeiffer-Palm-Teller syndrome" "Pfeiffer-Palm-Teller syndrome is a very rare dysmorphic syndrome described in two sibs and characterized by a short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice, cup-shaped ears, and narrow palpebral fissures with epicanthal folds, and intellectual deficit." "" + "PHAVER syndrome" "Phaver syndrome is a very rare syndrome characterized by the association of limb Pterygia, Heart anomalies, Autosomal recessive inheritance, Vertebral defects, Ear anomalies and Radial defects." "" + "phenformin 4-hydroxylation" "" + "phenylketonuria" "Phenylketonuria (PKU) is the most common inborn error of amino acid metabolism and is characterized by mild to severe mental disability in untreated patients." "" + "disorder of phenylalanine metabolism" "" + "dihydropteridine reductase deficiency" "Dihydropteridine reductase (DHPR) deficiency is a severe form of hyperphenylalaninemia (HPA) due to impaired regeneration of tetrahydrobiopterin (BH4), leading to decreased levels of neurotransmitters (dopamine, serotonin) and folate in cerebrospinal fluid, and causing neurological symptoms such as psychomotor delay, hypotonia, seizures, abnormal movements, hypersalivation, and swallowing difficulties." "" + "hyperphenylalaninemia due to tetrahydrobiopterin deficiency" "Hyperphenylalaninemia (HPA) due to tetrahydrobiopterin (BH4) deficiency, also known as malignant HPA is an amino acid disorder with neonatal onset that is clinically characterized by the classic manifestations of phenylketonuria (PKA) and that later on is clinically differentiated by neurologic symptoms such as microcephaly, intellectual disability, central hypotonia, delayed motor development, peripheral spasticity and seizures, that develop and persist despite an established metabolic control of plasma phenylalanine." "" + "tetrahydrobiopterin metabolic process disease" "A disease that has its basis in the disruption of tetrahydrobiopterin metabolic process." "" + "BH4-deficient hyperphenylalaninemia A" "An autosomal recessive condition caused by mutation(s) in the PTS gene, encoding 6-pyruvoyl tetrahydrobiopterin synthase. It is characterized by BH4-defecient hyperphenylalanemia, depletion of dopamine and serotonin, and progressive cognitive and motor deficits." "" + "phosphoenolpyruvate carboxykinase deficiency, mitochondrial" "" + "phosphoenolpyruvate carboxykinase deficiency" "Phosphoenolpyruvate carboxykinase (PEPCK) deficiency is a gluconeogenesis disorder that results from impairment in the enzyme PEPCK, and comprising cytosolic (PEPCK1) and mitochondrial (PEPCK2) forms of enzyme deficiency. Onset of symptoms is neonatal or a few months after birth and includes hypoglycemia associated with acute episodes of severe lactic acidosis, progressive neurological deterioration, severe liver failure, renal tubular acidosis and Fanconi syndrome. Patients also present progressive multisystem damage with failure to thrive, muscular weakness and hypotonia, developmental delay with seizures, spasticity, lethargy, microcephaly and cardiomyopathy. To date, there is no conclusive evidence of the existence of an isolated form of this disorder." "" + "glycogen storage disease due to phosphoglycerate mutase deficiency" "A rare, autosomal recessive, inherited disorder caused by mutation of the PGAM2 gene. It is characterized by non-spherocytic hemolytic anemia, exercise-induced cramping, myoglobinuria, and presence of tubular aggregates on muscle biopsy." "" + "phosphoenolpyruvate carboxykinase deficiency, cytosolic" "PEPCK1 deficiency is a rare inborn error of metabolism disorder, characterized by the deficiency of the enzyme PEPCK1, one of the enzymes needed for gluconeogenesis, the process by which organisms produce sugars (namely glucose) from non-carbohydrate precursors (such as amino acids). The symptoms described in the few cases reported in the medical literature suggest that there may be variation in the severity of the symptoms ranging from severe early-onset cases, to milder late-onset presentations. In severe cases symptoms may include persistent and very low levels of blood's sugar in newborns (neonatal hypoglycemia), failure to thrive, build-up of lactic acid in the blood (lactic acidosis), liver enlargement (hepatomegaly) and liver failure leading to neurological degeneration. Milder cases present during childhood with fewer and less serious liver problems. Infections and fasting may trigger the symptoms. PEPCK1 deficiency inheritance is autosomal recessive. It is caused by mutations in the PEPCK1 gene. Some researchers believe that the severity of the disease depend upon the mutations resulting in less or more PEPCK1 activity (the more active the enzyme is, the less severe the disease is, and vice versa). Treatment depend on the symptoms and may include giving extra carbohydrates during heavy exercise and illness or other times of fasting (formal sick day regimen) by the dietitian.PEPCK1 is the cytosolic form of the phosphoenolpyruvate carboxykinase (PEPCK) enzyme, the other being the mitochondrial (PEPCK2)." "" + "lethal congenital glycogen storage disease of heart" "Any glycogen storage disease in which the cause of the disease is a mutation in the PRKAG2 gene." "" + "glycogen storage disease IXb" "Glycogen storage disease (GSD) due to liver and muscle phosphorylase kinase (PhK) deficiency is a benign inborn error of glycogen metabolism. It is the mildest form of GSD due to PhK deficiency." "" + "glycogen storage disease due to phosphorylase kinase deficiency" "A group of inborn errors of glycogen metabolism that is clinically and genetically heterogeneous. This group comprises GSD due to liver phosphorylase kinase (PhK) deficiency, GSD due to muscle PhK deficiency and GSD due to liver and muscle PhK deficiency." "True" + "glycogen storage disease due to liver phosphorylase kinase deficiency" "A benign form of phosphorylase kinase deficiency caused by variants in PHKA2 or PHKG2 and characterized by hepatomegaly, growth retardation, and mild delay in motor development during childhood." "" + "isolated Pierre-Robin syndrome" "Pierre-Robin syndrome (or Pierre-Robin sequence) is characterised by triad of orofacial morphological anomalies consisting of retrognathism, glossoptosis and a posterior median velopalatal cleft." "" + "pili torti" "Pili torti is a hair shaft abnormality characterized by flat hair that is twisted at irregular intervals. Hair is normal at birth but progressively stops growing long and becomes fragile. Pili torti can be isolated or occur in association with syndromes such as Menkes disease or Bazex syndrome." "" + "pili torti-developmental delay-neurological abnormalities syndrome" "Pili torti-developmental delay-neurological abnormalities syndrome is characterized by growth and developmental delay, mild to moderate neurologic abnormalities, and pili torti. It has been described in a brother and his sister born to consanguineous Puerto Rican parents." "" + "Bjornstad syndrome" "Bjrnstad syndrome is characterized by congenital sensorineural hearing loss and pili torti. Less than fifty cases have been reported so far. The hearing loss usually becomes evident very early in life, often in the first year. Pili torti, a condition in which the hair shaft is flattened and twisted, makes the hair very brittle and patients develop hair loss in the first two years of life. Bjrnstad syndrome is transmitted as an autosomal recessive condition. It is caused by mutations in the BCS1L gene. Mutations in this gene also cause GRACILE syndrome." "" + "pilodental dysplasia-refractive errors syndrome" "Pilodental dysplasia-refractive errors syndrome is a rare ectodermal dysplasia syndrome characterized by dysplastic abnormalities of the hair and teeth (including hypodontia, abnormally shaped teeth, scalp hypotrichosis and pili annulati), follicular hyperkeratosis on the trunk and limbs, and hyperopia. Intensified delineation, reticular hyperpigmentation of the nape and astigmatism have also been reported. There have been no further descriptions in the literature since 1985." "" + "Rabson-Mendenhall syndrome" "Rabson-Mendenhall syndrome belongs to the group of extreme insulin-resistance syndromes (which also includes leprechaunism, the lipodystrophies, and the type A and B insulin resistance syndromes)." "" + "achromatopsia 3" "Any achromatopsia in which the cause of the disease is a mutation in the CNGB3 gene." "" + "CNGB3-related retinopathy" "A retinopathy caused by biallelic variants in the CNGB3 gene." "" + "isolated growth hormone deficiency type IA" "An isolated growth hormone deficiency characterized by autosomal recessive inheritance of severe dwarfism with onset by 6 months of age and variable development of antibodies to growth hormone following exogenous supplementation that has material basis in null mutations in the GH1 gene on chromosome 17q23.3." "" + "Laron syndrome" "Laron syndrome is a congenital disorder characterized by marked short stature associated with normal or high serum growth hormone (GH) and low serum insulin-like growth factor-1 (IGF-I) levels which fail to rise after exogenous GH administration." "" + "growth hormone insensitivity syndrome" "Growth hormone insensitivity syndrome (GHIS) is a group of diseases characterized by marked short stature associated with normal or elevated growth hormone (GH) concentrations, which fail to respond to exogenous GH administration. GHIS comprises growth delay due to IGF-1 deficiency, growth delay due to IGF-1 resistance, Laron syndrome, short stature due to STAT5b deficiency and primary acid-labile subunit (ALS) deficiency." "" + "pituitary hormone deficiency, combined, 2" "Any combined pituitary hormone deficiencies, genetic form in which the cause of the disease is a mutation in the PROP1 gene." "" + "panhypopituitarism" "Insufficient production of all the anterior pituitary hormones." "" + "short stature due to growth hormone qualitative anomaly" "Short stature due to growth hormone qualitative anomaly is characterised by growth retardation and short stature (despite the presence of normal or slightly elevated levels of immunoreactive growth hormone, GH), low concentrations of insulin-like growth factor-I (IGF-I) and a significant increase in growth rate following recombinant GH therapy. Prevalence is unknown but only a few cases have been reported in the literature. The syndrome is caused by various mutations in the GH1 gene (17q22-q24) that result in structural GH anomalies and a biologically inactive molecule. Transmission is autosomal recessive." "" + "short stature-pituitary and cerebellar defects-small sella turcica syndrome" "Short stature-pituitary and cerebellar defects-small sella turcica syndrome is characterised by short stature, anterior pituitary hormone deficiency, small sella turcica, and a hypoplastic anterior hypophysis associated with pointed cerebellar tonsils. It has been described in three generations of a large French kindred. Ectopia of the posterior hypophysis was observed in some patients. The syndrome is transmitted as a dominantly inherited trait and is caused by a germline mutation within the LIM-homeobox transcription factor LHX4 gene (1q25)." "" + "pituitary dwarfism with large sella turcica" "" + "plasma clot retraction factor, deficiency of" "" + "alpha-2-plasmin inhibitor deficiency" "Congenital alpha2 antiplasmin deficiency is a rare hemorrhagic disorder caused by congenital deficiency of alpha2 antiplasmin, leading to dysregulated fibrinolysis and is characterized by a hemorrhagic tendency presenting from childhood with prolonged bleeding and ecchymoses following minor trauma and spontaneous bleeding episodes (often in unusual locations like diaphysis of long bones). Congenital alpha2 antiplasmin deficiency is inherited in an autosomal recessive manner." "" + "platelet prostacyclin receptor defect" "" + "Scott syndrome" "Scott syndrome is an extremely rare congenital hemorrhagic disorder characterized by hemorrhagic episodes due to impaired platelet coagulant activity." "" + "pleoconial myopathy with salt craving" "" + "desquamative interstitial pneumonia" "A rare idiopathic interstitial pneumonia characterized by accumulation of macrophages in alveolar spaces and interstitial inflammation. It usually occurs in smokers. Some patients develop progressive interstitial lung fibrosis." "" + "polycystic kidney, cataract, and congenital blindness" "" + "autosomal recessive polycystic kidney disease" "Autosomal recessive polycystic kidney disease (ARPKD) is an inherited disorder characterised by the development of cysts affecting the collecting ducts. It is frequently associated with hepatic involvement." "" + "Gillessen-Kaesbach-Nishimura syndrome" "" + "ALG9-CDG" "A form of congenital disorders of N-linked glycosylation characterized by progressive microcephaly, hypotonia, developmental delay, drug-resistant infantile epilepsy, and hepatomegaly. Additional features that may be observed include failure to thrive, pericardial effusion, renal cysts, skeletal dysplasia, facial dysmorphism (frontal bossing, hypertelorism, depressed nasal bridge, low-seated ears, large mouth) and hydrops fetalis. The disease is caused by loss-of-function mutations in the gene ALG9 (11q23)." "" + "acquired polycythemia vera" "Polycythemia vera (PV) is an acquired myeloproliferative disorder characterized by an elevated absolute red blood cell mass caused by uncontrolled red blood cell production, frequently associated with uncontrolled white blood cell and platelet production." "" + "erythroid neoplasm" "" + "Chuvash polycythemia" "Chuvash erythrocytosis is a rare, genetic, congenital secondary polycythemia disorder characterized by increased hemoglobin, hematocrit and erythropoietin serum levels and normal oxygen affinity, which usually manifests with headache, dizziness, dyspnea and/or plethora. Patients present an increased risk of hemorrhage, thrombosis and early death." "" + "congenital secondary polycythemia" "" + "polydactyly, postaxial, type A5" "" + "short-rib thoracic dysplasia 6 with or without polydactyly" "A group of rare, autosomal recessive inherited disorders characterized by a constricted thoracic cage, short ribs, and a 'trident' appearance of the acetabular roof. Polydactyly may or may not be present. Other abnormalities include cleft lip and palate and abnormalities of the brain, eye, heart, liver, pancreas, intestine, kidney, and genitalia." "" + "short rib-polydactyly syndrome, Majewski type" "" + "postaxial polydactyly-dental and vertebral anomalies syndrome" "Postaxial polydactyly-dental and vertebral anomalies syndrome is a rare, genetic, developmental defect during embryogenesis syndrome characterized by postaxial polydactyly and other abnormalities of the hands and feet (e.g. brachydactyly, broad toes), hypoplasia and fusion of the vertebral bodies, as well as dental abnormalities (fused teeth, macrodontia, hypodontia, short roots). There have been no further descriptions in the literature since 1977." "" + "polymyoclonus, infantile" "" + "adult polyglucosan body disease" "Adult polyglucosan body disease (APBD) is a glycogen storage disease of adults characterized by progressive upper and lower motor neuron dysfunction, progressive neurogenic bladder and cognitive difficulties that can lead to dementia." "" + "polysaccharide, storage of unusual" "" + "polyhydramnios, chronic idiopathic" "" + "polysyndactyly-cardiac malformation syndrome" "Polysyndactyly-cardiac malformation syndrome is characterized by polysyndactyly, hexadactyly (duplication of the first toe) and complex cardiac malformation (including atrial and ventricular septal defect, single ventricle, aortic dextroposition, or dilation of the right heart). It has been described in six patients from three unrelated families. Other manifestations were present in some patients (i.e. facial dysmorphism, hepatic cysts)." "" + "Bartsocas-Papas syndrome" "Bartsocas-Papas syndrome is a rare, inherited, popliteal pterygium syndrome characterized by severe popliteal webbing, microcephaly, a typical face with short palpebral fissures, ankyloblepharon, hypoplastic nose, filiform bands between the jaws and facial clefts, oligosyndactyly, genital abnormalities, and additional ectodermal anomalies (i.e. absent hair, eyebrows, lashes, nails). It is often fatal in the neonatal period, but patients living until childhood have been reported." "" + "cutaneous porphyria" "Congenital erythropoietic porphyria, or Günther disease, is a form of erythropoietic porphyria characterized by very severe and mutilating photodermatosis." "" + "anemia due to erythrocyte enzyme disorder" "Any form of anemia that results from the absence of, or the defective action of, any enzyme involved in erythropoiesis." "" + "postaxial acrofacial dysostosis" "Postaxial acrofacial dysostosis (POADS) is a type of acrofacial dysostosis characterised by mandibular and malar hypoplasia, small and cup-shaped ears, lower lid ectropion, and symmetrical postaxial limb deficiencies with absence of the fifth digital ray and ulnar hypoplasia." "" + "Gitelman syndrome" "Gitelman syndrome (GS), also referred to as familial hypokalemia-hypomagnesemia, is characterized by hypokalemic metabolic alkalosis in combination with significant hypomagnesemia and low urinary calcium excretion." "" + "urban-Rogers-Meyer syndrome" "This syndrome is characterized by intellectual deficit, short stature, obesity, genital abnormalities, and hand and/or toe contractures. It has been described in two brothers and in one isolated case. The patients also present with generalized osteoporosis and a history of frequent fractures. This syndrome is similar to Prader-Willi syndrome, but the hand contractures and osteoporosis, together with the lack of hypotonia, indicate this is a different entity." "" + "prenatal bowing" "" + "Prepapillary vascular loops" "" + "pterin-4 alpha-carbinolamine dehydratase 1 deficiency" "Pterin-4 alpha-carbinolamine dehydratase 1 (PCBD1) deficiency is considered a transient and benign form of hyperphenylalaninemia due to tetrahydrobiopterin deficiency, characterized by muscular hypotonia, irritability (detected by EEG), slow acquisition of psychomotor skills, age-dependent movement disorders, including dystonia and an accompanying excretion of 7-substituted pterins. Neurological developement is normal with dietary control of blood phenyalanine. PCBD1 is inherited in an autosomal recessive manner." "" + "progesterone resistance" "" + "Wiedemann-Rautenstrauch syndrome" "Wiedemann-Rautenstrauch syndrome is a very rare disorder with features of premature aging recognizable at birth, decreased subcutaneous fat, hypotrichosis, relative macrocephaly and dysmorphism." "" + "prolactin deficiency, isolated" "" + "prolactin deficiency with obesity and enlarged testes" "" + "prune belly syndrome with pulmonic stenosis, intellectual disability, and deafness" "" + "pseudodiastrophic dysplasia" "Pseudodiastrophic dysplasia is characterized by rhizomelic shortening of the limbs and severe clubfoot deformity, in association with elbow and proximal interphalangeal joint dislocations, platyspondyly, and scoliosis. It has been described in about 10 patients. An autosomal recessive inheritance has been suggested. Pseudodiastrophic dysplasia differs from diastrophic dysplasia on the basis of clinical, radiographic, and histopathologic findings. Clubfoot can be treated by surgical therapy, and neonatal contractures and scoliosis can be relieved by physical therapy. Several of the reported patients died in the neonatal period or during infancy." "" + "46,XX disorder of sex development-skeletal anomalies syndrome" "" + "46,XX disorder of sex development" "Conditions affecting individuals with 46,XX karyotype characterized by atypical development of one or more of the following: the gonads, the internal reproductive structures, the external reproductive/genital structures." "" + "46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency" "Decreased activity of the steroidogenic enzyme, 17-beta-hydroxysteroid dehydrogenase, associated with mutation(s) in the HSD17B3 gene, leading to reduced testosterone production." "" + "46,XY disorder of sex development due to testicular steroidogenesis defect" "True" + "autosomal recessive pseudohypoaldosteronism type 1" "Generalized pseudohypoaldosteronism type 1 (generalized PHA1) is a severe form of primary mineralocorticoid resistance with systemic involvement and salt loss in multiple organs." "" + "fundus dystrophy, pseudoinflammatory, recessive form" "" + "peroxisomal acyl-CoA oxidase deficiency" "Peroxisomal acyl-CoA oxidase deficiency is a rare neurodegenerative disorder that belongs to the group of inherited peroxisomal disorders and is characterized by hypotonia and seizures in the neonatal period and neurological regression in early infancy." "" + "Acrootoocular syndrome" "Acro-oto-ocular syndrome is a very rare disorder associating pseudopapilledema (optic disc swelling not secondary to increased intracranial pressure), mixed hearing loss, facial dysmorphism and limb extremity anomalies." "" + "holoprosencephaly-postaxial polydactyly syndrome" "Holoprosencephaly-postaxial polydactyly syndrome associates, in chromosomally normal neonates, holoprosencephaly, severe facial dysmorphism, postaxial polydactyly and other congenital abnormalities, suggestive of trisomy 13." "" + "Pseudouridinuria and mental defect" "" + "46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency" "A rare disorder of sex development (DSD) due to a defect in metabolizing testosterone to dihydrotestosterone and characterized by incomplete intrauterine masculinization which ranges from a female genitalia with a blind vaginal pouch to a fully male phenotype with pseudovaginal posterior hypospadias and micropenis." "" + "46,XY disorder of sex development due to a defect in testosterone metabolism by peripheral tissue" "True" + "vitamin D-dependent rickets, type 1" "Hypocalcemic vitamin D-dependent rickets (VDDR-I) is an early-onset hereditary vitamin D metabolism disorder characterized by severe hypocalcemia leading to osteomalacia and rachitic bone deformations, and moderate hypophosphatemia." "" + "hypocalcemic rickets" "Hypocalcemic rickets is a group of genetic diseases characterized by hypocalcemia and rickets. It comprises hypocalcemic vitamin D dependent rickets (VDDR-I) and hypocalcemic vitamin D resistant rickets (HVDRR)." "" + "vitamin D-dependent rickets" "" + "pseudoxanthoma elasticum (inherited or acquired)" "An inherited disorder that causes calcium and other minerals to accumulate in the elastic fibers of the skin, eyes, and blood vessels, and less frequently in other areas such as the digestive tract." "" + "autosomal recessive multiple pterygium syndrome" "A rare congenital disorder, this is the non-lethal variant of multiple pterygium syndrome, characterized by orthopedic and craniofacial abnormalities, pterygium and akinethesia. The majority of cases are autosomal dominant." "" + "3MC syndrome 2" "Any 3MC syndrome in which the cause of the disease is a mutation in the COLEC11 gene." "" + "pulmonary alveolar microlithiasis" "Pulmonary alveolar microlithiasis is a disorder in which tiny fragments (microliths) of calcium phosphate gradually accumulate in the small air sacs (alveoli) of the lungs. These deposits eventually cause widespread damage to the alveoli and surrounding lung tissue (interstitial lung disease). People with this disorder may also develop a persistent cough and difficulty breathing (dyspnea), especially during physical exertion. Chest pain that worsens when coughing, sneezing, or taking deep breaths is another common feature. People with pulmonary alveolar microlithiasismay also develop calcium phosphate deposits in other organs and tissue of the body. Though the course of the disease can be variable,many casesslowly progress to lung fibrosis, respiratory failure, or cor pulmonale. The only effective therapy is lung transplantation. In some cases, pulmonary alveolar microlithiasis is caused by mutations in the SLC34A2 gene and inherited in an autosomal recessive manner." "" + "neonatal acute respiratory distress due to SP-B deficiency" "" + "hereditary pulmonary alveolar proteinosis" "Congenital pulmonary alveolar proteinosis is a very rare primary interstitial lung disease due to pulmonary surfactant accumulation within the alveolar macrophages and alveoli, characterized by a variable clinical course ranging from an asymptomatic clinical presentation and spontaneous remission, to symptoms such as dyspnea and cough, or to severe respiratory failure." "" + "pulmonary arteriovenous malformation" "Pulmonary arteriovenous malformation (PAVM) describes an anatomic communication between a pulmonary artery and a pulmonary vein leading to a right to left extracardiac shunt that can be asymptomatic or can lead to varying manifestations such as dyspnea, hemoptysis, and neurological symptoms." "True" + "pulmonary atresia-intact ventricular septum syndrome" "Pulmonary atresia with intact ventricular septum (PA-IVS) is a rare form of cyanotic congenital heart malformation characterized by severe cyanosis and tachypnea. PA-IVS presents significant morphologic diversity: at the end of the spectrum are patients with a mildly hypoplastic and tripartite right ventricle (RV) and mild tricuspid valve (TV) hypoplasia, and at the other end are patients with severe RV and TV hypoplasia, often with RV-dependent coronary circulation." "" + "pulmonary artery or pulmonary branch anomaly" "" + "hypoplastic right heart syndrome" "Hypoplastic right-heart syndrome (HRHS) is a rare, cyanotic congenital heart malformation caused by underdevelopment of the right-sided heart structures (tricuspid valve, RV, pulmonary valve, and pulmonary artery) commonly associated with an atrial septal defect, ostium secundum type. Pulmonary blood flow is diminished and right-to-left shunting occurs at the atrial level, leading to dyspnea, fatigue, atrial arrhythmias, right-sided heart failure, hypoxemia, repeated miscarriages that were mostly due to hypoxemia and cyanosis. Two subtypes of HRHS have been characterized: pulmonary atresia-intact ventricular septum and right ventricular hypoplasia." "" + "pulmonary bullae causing pneumothorax" "" + "congenital pulmonary lymphangiectasia" "Congenital pulmonary lymphangiectasia (PL) is a rare developmental disorder involving the lung and characterized by pulmonary subpleural, interlobar, perivascular, and peribronchial lymphatic dilatation." "" + "alveolar capillary dysplasia with misalignment of pulmonary veins" "A rare and fatal developmental lung disease characterized by respiratory distress in neonates due to refractory hypoxemia and severe pulmonary arterial hypertension." "" + "primary interstitial lung disease specific to childhood" "" + "congenital pulmonary veins anomaly" "Aberrant drainage of one or more of the pulmonary veins which causes the return of oxygen-rich blood to the right atrium." "" + "pulmonary hypertension, primary, autosomal recessive" "" + "familial primary pulmonary hypoplasia" "Primary pulmonary hypoplasia is a rare, isolated, genetic developmental defect during embryogenesis characterized by congential malformation of pulmonary parenchyma with absence of other anomalies. Neonatally patients present with decreased breath sounds, small lung volume and severe respiratory distress that is not responsive to aggressive treatment (including surfactant instillation/ mechanical respiratory support). It is usually not compatible with life." "" + "pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis" "Pulmonary veno-occlusive disease and/or pulmonary capillary hemangiomatosis (PVOD and/or PCH) constitutes a rare subgroup of pulmonary arterial hypertension (PAH) characterized by obliterative fibrosis of the small pulmonary veins and venules and/or capillary infiltration of the pulmonary interstitium leading to increased pulmonary vascular resistance and right ventricular dysfunction." "" + "pulmonic stenosis" "" + "congenital pulmonary valve stenosis" "Congenital pulmonary stenosis (PS) is a congenital heart malformation that is characterized by a right ventricular outflow obstruction with a clinical presentation that may vary from critical stenosis presenting in the neonatal period to asymptomatic mild stenosis. The obstruction in PS can be at the valvular, subpulmonary, or supravalvular levels (valvular, subpulmonary, supravalvular PS)." "" + "pulmonic stenosis and congenital nephrosis" "" + "pycnodysostosis" "Pycnodysostosis is a genetic lysosomal disease characterized by short stature, increased density of the bones (osteosclerosis/osteopetrosis), and brittle bones. Other features may include underdevelopment of the tips of the fingers with absent or small nails, an abnormal collarbone (clavicle), distinctive facial features including a large head with a small face and chin, underdeveloped facial bones, a high forehead, and dental abnormalities.Pycnodysostosis is an autosomal recessive condition caused by mutations in the gene that codes the enzyme cathepsin K (CTSK) on chromosome 1q21. The diagnosis of pycnodysostosis is based on physical features and X-ray findings. Molecular genetic testing is available. Treatment should address the symptoms found in each patient and may include orthopedic monitoring, treatment of fractures, appropriate dental care, and craniofacial surgery." "" + "Pygmy" "" + "pyknoachondrogenesis" "Pyknoachondrogenesis is a lethal skeletal osteochondrodysplasia characterized by severe generalized osteosclerosis." "" + "pyloric atresia" "" + "pyridoxine-dependent epilepsy" "A rare neurometabolic disease characterized by recurrent intractable seizures in the prenatal, neonatal and postnatal period that are resistant to anti-epileptic drugs (AEDs) but that are responsive to pharmacological dosages of pyridoxine (vitamin B6)." "" + "inborn disorder of pyridoxine metabolism" "An acquired metabolic disease that is has its basis in the disruption of pyridoxine metabolic process." "" + "hemolytic anemia due to pyrimidine 5' nucleotidase deficiency" "Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency is a rare, hereditary, hemolytic anemia due to an erythrocyte nucleotide metabolism disorder characterized by mild to moderate hemolytic anemia associated with basophilic stippling and the accumulation of high concentrations of pyrimidine nucleotides within the erythrocyte. Patients present with variable features of jaundice, splenomegaly, hepatomegaly, gallstones, and sometimes require transfusions. Rare cases of mild development delay and learning difficulties are reported." "" + "hemolytic anemia due to an erythrocyte nucleotide metabolism disorder" "True" + "glutathione synthetase deficiency with 5-oxoprolinuria" "" + "pyropoikilocytosis, hereditary" "An autosomal recessive inherited severe hemolytic anemia. It is a subtype of hereditary elliptocytosis and is characterized by partial spectrin deficiency." "" + "pyruvate carboxylase deficiency disease" "Pyruvate carboxylase (PC) deficiency is a rare neurometabolic disorder characterized by metabolic acidosis, failure to thrive, developmental delay, and recurrent seizures at an early age in severely affected patients." "" + "pyruvate kinase deficiency of red cells" "Hemolytic anemia due to red cell pyruvate kinase (PK) deficiency is a metabolic disorder characterized by a variable degree of chronic nonspherocytic hemolytic anemia." "" + "radiculoneuropathy, fatal neonatal" "" + "radioulnar synostosis-developmental delay-hypotonia syndrome" "Radioulnar synostosis-developmental delay-hypotonia syndrome, also known as Der Kaloustian-McIntosh-Silver syndrome, is an extremely rare syndrome with synostosis described in about 4 patients to date with clinical manifestations including congenital unilateral radioulnar synostosis, generalized hypotonia, developmental delay, and dysmorphic facial features (long face, prominent nose and ears)." "" + "congenital radioulnar synostosis" "Congenital radioulnar synostosis is a rare bone disorder that may be isolated or associated with other disorders and that is characterized by failure of segmentation of the radius and ulna during embryological development, causing limited rotational movements of the forearm, which may lead to difficulties with some activities of daily living." "" + "leukocyte adhesion deficiency type II" "Leukocyte adhesion deficiency type II (LAD-II) is a form of LAD characterized by recurrent bacterial infections, severe growth delay and severe intellectual deficit." "" + "Ramon syndrome" "" + "malformation syndrome with odontal and/or periodontal component" "True" + "rapadilino syndrome" "RAPADILINO syndrome is a syndrome for which the acronym indicates the principal signs: RA for radial ray defect, PA for both patellae hypoplasia or aplasia and cleft or highly arched palate, DI for diarrhea and dislocated joints, LI for little size and limb malformations, NO for long, slender nose and normal intelligence." "" + "red skin pigment anomaly of new guinea" "" + "Reese retinal dysplasia" "" + "adult Refsum disease" "A very rare, clinically variable, multisystemic metabolic disease, characterized by anosmia, early-onset retinitis pigmentosa and possible neurological manifestations, including neuropathy, and cerebellar ataxia, deafness, ichthyosis, skeletal abnormalities, and cardiac arrhythmia. It is characterized biochemically by accumulation of phytanic acid in plasma and tissues." "" + "phytanoyl-CoA hydroxylase deficiency" "Any disorder of peroxisomal alpha oxidation in which the cause of the disease is a mutation in the PHYH gene." "" + "metabolic disease with pigmentary retinitis" "True" + "peroxisome biogenesis disorder type 3B" "A genetic disorder characterized by abnormalities in the breakdown of phytanic acid. It results in accumulation of phytanic acid in the blood, brain and other tissues. Signs and symptoms include retinitis pigmentosa which may lead to blindness, hearing problems and deafness, hypotonia, ataxia, nystagmus, facial deformities, and mental and growth retardation." "" + "peroxisome biogenesis disorder due to PEX12 defect" "Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX12 gene." "" + "inflammatory bowel disease 1" "Any inflammatory bowel disease in which the cause of the disease is a mutation in the NOD2 gene." "" + "renal and mullerian duct hypoplasia" "" + "Senior-Loken syndrome 1" "Any Senior-Loken syndrome in which the cause of the disease is a mutation in the NPHP1 gene." "" + "Senior-Loken syndrome" "Senior-Loken syndrome (SLSN) is a very rare autosomal recessive oculo-renal disease characterized by the association of nephronophthisis (NPHP), a chronic kidney disease, with retinal dystrophy." "" + "Ulbright-Hodes syndrome" "Ulbright-Hodes syndrome is characterised by renal dysplasia, growth retardation, phocomelia or mesomelia, radiohumeral fusion, rib abnormalities, anomalies of the external genitalia and a potter-like facies. The syndrome has been described in three infants (one pair of sibs and an unrelated case), all of whom died shortly after birth from respiratory distress resulting from pulmonary hypoplasia and oligohydramnios caused by renal dysplasia. The mode of transmission appears to be autosomal recessive." "" + "short-rib thoracic dysplasia 9 with or without polydactyly" "An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the IFT140 gene on chromosome 16p13." "" + "retinal ciliopathy" "" + "Perlman syndrome" "Perlman syndrome is characterized principally by polyhydramnios, neonatal macrosomia, bilateral renal tumours (hamartomas with or without nephroblastomatosis), hypertrophy of the islets of Langerhans and facial dysmorphism." "" + "NPHP3-related Meckel-like syndrome" "" + "renal tubular acidosis 3" "" + "renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss" "" + "autosomal recessive distal renal tubular acidosis" "Autosomal recessive distal renal tubular acidosis (AR dRTA) is an inherited form of distal renal tubular acidosis (dRTA) characterized by hypokalemic hyperchloremic metabolic acidosis. Deafness often occurs either early or later on in life but may be absent or never be diagnosed." "" + "renal-genital-middle ear anomalies" "" + "renal tubular dysgenesis of genetic origin" "An instance of renal tubular dysgenesis that is caused by a modification of the individual's genome." "" + "renal tubular dysgenesis" "Renal tubular dysgenesis is a rare disorder of the fetus characterized by absent or poorly developed proximal tubules of the kidneys, persistent oligohydramnios, leading to Potter sequence (facial dysmorphism with large and flat low-set ears, lung hypoplasia arthrogryposis and limb positioning defects), and skull ossification defects. It can be acquired during fetal development due to drugs taken by the mother or certain disorders (twin-twin transfusion syndrome, TTTS) or inherited in an autosomal recessive manner." "" + "newborn respiratory distress syndrome" "Infant acute respiratory distress syndrome is a lung disorder that affects premature infants caused by developmental insufficiency of surfactant production and structural immaturity of the lungs. The symptoms usually appear shortly after birth and may include tachypnea, tachycardia, chest wall retractions (recession), expiratory grunting, nasal flaring and cyanosis during breathing efforts." "" + "pediatric acute respiratory distress syndrome" "Acute respiratory distress syndromet that occurs in pediatric patients and includes findings of new infiltrates (unilateral or bilateral) consistent with acute parenchymal disease, edema not fully explained by fluid overload or cardiac failure, and may present as new acute lung disease in setting of chronic lung disease and/or heart disease, and perinatal lung disease is excluded." "" + "respiratory underresponsiveness to hypoxia and hypercapnia" "" + "familial hemophagocytic lymphohistiocytosis type 1" "Familial Hemophagocytic lymphohistiocytosis (FHL) is a rare primary immunodeficiency characterized by a macrophage activation syndrome with an onset usually occurring within a few months or less common several years after birth." "" + "genetic hemophagocytic lymphohistiocytosis" "Genetic hemophagocytic lymphohistiocytosis." "" + "reticulum cell sarcoma" "An antiquated term that refers to a non-Hodgkin lymphoma composed of diffuse infiltrates of large, often anaplastic lymphocytes." "" + "retinal degeneration and epilepsy" "" + "Knobloch syndrome" "Knobloch syndrome (KS) is defined by vitreoretinal and macular degeneration, and occipital encephalocele." "" + "retinal degeneration-nanophthalmos-glaucoma syndrome" "Retinal degeneration-nanophthalmos-glaucoma syndrome is characterized by progressive pigmentary retinal degeneration (with nyctalopia and visual field restriction), cystic macular degeneration and angle closure glaucoma. It has been described in seven members of one family. Patients also have hyperopia and nanophthalmos. The mode of transmission is autosomal recessive." "" + "patterned dystrophy of the retinal pigment epithelium" "" + "retinal telangiectasia and hypogammaglobulinemia" "" + "obsolete retinitis pigmentosa type 1" "" "true" + "retinitis pigmentosa inversa with deafness" "" + "retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome" "Retinitis pigmentosa - intellectual disability - deafness - hypogenitalism is an extremely rare syndromic retinitis pigmentosa characterized by pigmentary retinopathy, diabetes mellitus with hyperinsulinism, acanthosis nigricans, secondary cataracts, neurogenic deafness, short stature mild hypogonadism in males and polycystic ovaries with oligomenorrhea in females. Inheritance is thought to be autosomal recessive. It can be distinguished from Alstrom syndrome by the presence of intellectual disability and the absence of renal insufficiency. There have been no further descriptions in the literature since 1993." "" + "late-adult onset retinitis pigmentosa" "A retinitis pigmentosa that is characterized by onset of symptoms in the fifth or sixth decade of life." "" + "retinohepatoendocrinologic syndrome" "Retinohepatoendocrinologic syndrome is characterized by total colorblindness caused by progressive cone dystrophy, degenerative liver disease, and endocrine dysfunction (hypothyroidism, diabetes, repeated abortions or infertility). It has been described in six females from two sibships with a high degree of consanguinity, and in a male from another family." "" + "retinopathy, pigmentary, and intellectual disability" "" + "autosomal recessive pericentral pigmentary retinopathy" "A retinitis pigmentosa that is characterized autosomal recessive inheritance of pigmentary retinal degeneration with onset in the infancy but slower rates of progression than other forms of retinopathy." "" + "retinoschisis of fovea" "" + "obsolete enhanced S-cone syndrome" "" "true" + "Revesz syndrome" "Revesz syndrome is a rare severe phenotypic variant of dyskeratosis congenita (DC) with an onset in early childhood, characterized by features of DC (e.g. skin hyper/hypopigmentation, nail dystrophy, oral leukoplakia, high risk of bone marrow failure (BMF) and cancer, developmental delay sparse and fine hair) in conjunction with bilateral exudative retinopathy, and intracranial calcifications." "" + "obsolete Rh deficiency syndrome" "" "true" + "myoglobinuria, acute recurrent, autosomal recessive" "" + "genetic recurrent myoglobinuria" "Genetic recurrent myoglobinuria is an inborn error of metabolism characterized by abnormal urinary excretion of myoglobin due to acute destruction of skeletal muscle fibers." "" + "alveolar rhabdomyosarcoma" "A rapidly growing malignant mesenchymal neoplasm. It is characterized by the presence of round cells with myoblastic differentiation and a fibrovascular stroma resembling an alveolar growth pattern. The tumor usually presents in the extremities." "" + "obsolete rheumatic fever-related antigen" "" "true" + "rhizomelic syndrome, Urbach type" "Rhizomelic syndrome, Urbach type is a rare primary bone dysplasia characterized by upper limbs rhizomelia and other skeletal anomalies (e.g. short stature, dislocated hips, digitalization of the thumb with bifid distal phalanx), craniofacial features (e.g. microcephaly, large anterior fontanelle, fine and sparse scalp hair, depressed nasal bridge, high arched palate, micrognathia, short neck), congenital heart defects (e.g. pulmonary stenosis), delayed psychomotor development and mild flexion contractures of elbows. Radiologic evaluation may reveal flared epiphyses, platyspondyly and/or digital anomalies." "" + "Roberts syndrome" "Roberts syndrome (RBS) is characterized by pre- and postnatal growth retardation, severe symmetric limb reduction defects, craniofacial anomalies and severe intellectual deficit. SC phocomelia is a milder form of RBS." "" + "Roberts-SC phocomelia syndrome" "A rare genetic syndrome with an autosomal recessive pattern of inheritance. It is caused by a mutation in the ESCO2 gene. Clinical signs at birth include multiple limb and facial abnormalities." "" + "obsolete dysostosis of genetic origin with limb anomaly as a major feature" "True" "true" + "Richieri Costa-Pereira syndrome" "Richieri Costa-Pereira syndrome is characterized by short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies (including hypoplastic thumbs), and clubfoot. It has been described in 14 Brazilian families and in one unrelated French patient. Prominent low set ears and a highly arched palate were also observed. Transmission is autosomal recessive." "" + "autosomal recessive Robinow syndrome" "Autosomal recessive Robinow syndrome (RRS) is the less common type of Robinow syndrome (RS) characterized by short-limb dwarfism, costovertebral segmentation defects and abnormalities of the head, face and external genitalia." "" + "rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction" "" + "ectodermal dysplasia-blindness syndrome" "Ectodermal dysplasia-blindness syndrome is characterized by intellectual deficit, blindness caused by ocular malformations (microphthalmia, microcornea and sclerocornea), short stature, dysmorphic facial features (narrow nasal bridge and prominent ears), hypotrichosis, and malaligned teeth. It has been described in two siblings (brother and sister) and is likely to be transmitted as an autosomal recessive trait." "" + "Rothmund-Thomson syndrome" "Rothmund-Thomson syndrome (RTS) is a genodermatosis presenting with a characteristic facial rash (poikiloderma) associated with short stature due to pre- and postnatal growth delay, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, juvenile cataracts, skeletal abnormalities, radial ray defects, premature aging and a predisposition to certain cancers." "" + "Rowley-Rosenberg syndrome" "" + "secondary entropion" "" + "saccharopinuria" "Saccharopinuria is a disorder of lysine metabolism associated with hyperlysinaemia and lysinuria." "" + "Sandhoff disease" "Sandhoff disease is a lysosomal storage disorder from the GM2 gangliosidosis family and is characterised by central nervous system degeneration." "" + "GM2 gangliosidosis" "A group of recessively inherited diseases characterized by the intralysosomal accumulation of G(M2) GANGLIOSIDE in the neuronal cells. Subtypes include mutations of enzymes in the BETA-N-ACETYLHEXOSAMINIDASES system or G(M2) ACTIVATOR PROTEIN leading to disruption of normal degradation of GANGLIOSIDES, a subclass of ACIDIC GLYCOSPHINGOLIPIDS." "" + "microbrachycephaly-ptosis-cleft lip syndrome" "Microbrachycephaly-ptosis-cleft lip syndrome is characterised by the association of intellectual deficit, microbrachycephaly, hypotelorism, palpebral ptosis, a thin/long face, cleft lip, and anomalies of the lumbar vertebra, sacrum and pelvis. It has been described in two Brazilian sisters. Transmission appears to be autosomal recessive." "" + "sarcosinemia" "Sarcosinemia is a metabolic disorder characterized by an increased concentration of sarcosine in plasma and urine due to sarcosine dehydrogenase deficiency." "" + "glycine metabolism disease" "A disease that has its basis in the disruption of glycine metabolic process." "" + "obsolete SC phocomelia syndrome" "" "true" + "Schinzel-Giedion syndrome" "Schinzel-Giedion syndrome (SGS) is an ectodermal dysplasia syndrome chiefly characterized by a distinctive facial dysmorphism, hydronephrosis, severe developmental delay, typical skeletal malformations, and genital and cardiac anomalies." "" + "schizencephaly" "Schizencephaly is a rare congenital cerebral malformation characterized by the presence of linear clefts in one or both hemispheres of the brain, extending from the lateral ventricles to the pial surface of the cortex, and that lead to a variety of neurological symptoms such as epilepsy, motor deficits, and psychomotor retardation." "" + "encephaloclastic disorder" "" + "autoimmune polyendocrinopathy type 2" "Autoimmune polyglandular syndrome of likely polygenic etiology characterized by the presence of primary adrenal insufficiency in association with autoimmune thyroiditis and/or type 1 diabetes mellitus; this condition is not associated with mucocutaneous candidiasis." "" + "schneckenbecken dysplasia" "Schneckenbecken dysplasia (or chondrodysplasia with snail-like pelvis) is a prenatally lethal spondylodysplastic dysplasia." "" + "disorder of O-xylosyl/N-acetylgalactosaminylglycan synthesis" "" + "craniometadiaphyseal dysplasia, wormian bone type" "Craniometadiaphyseal dysplasia, wormian bone type is an extremely rare craniotubular bone dysplasia syndrome described in fewer than 10 patients to date. Clinical manifestations include macrocephaly, frontal bossing, malar hypoplasia, prominent mandible and dental hypoplasia. Other skeletal anomalies include abnormal bone modeling in tubular bones, multiple wormian bones and deformities of chest, pelvis and elbows. An increased risk of fractures is noted." "" + "sclerosteosis 1" "Any sclerosteosis in which the cause of the disease is a mutation in the SOST gene." "" + "sclerosteosis" "Sclerosteosis is a very rare serious sclerosing hyperostosis syndrome characterized clinically by variable syndactyly and progressive skeletal overgrowth (particularly of the skull), resulting in distinctive facial features (mandibular overgrowth, frontal bossing, midfacial hypoplasia), cranial nerve entrapment causing facial palsy and deafness, and potentially lethal elevation of intracranial pressure." "" + "sea-blue histiocyte syndrome" "A rare, inherited or acquired syndrome characterized by the presence of histiocytes in the bone marrow which contain granules stained blue with hematoxylin-eosin stain, mild thrombocytopenia and purpura, and splenomegaly." "" + "second metatarsal-metacarpal syndrome" "" + "secretory component deficiency" "" + "congenital generalized lipodystrophy type 2" "Any congenital generalized lipodystrophy in which the cause of the disease is a mutation in the BSCL2 gene." "" + "Berardinelli-Seip congenital lipodystrophy" "A lipodystrophy characterized by the association of lipoatrophy, hypertriglyceridemia, hepatomegaly and acromegaloid features. BSCL belongs to the group of extreme insulin resistance syndromes, which also includes leprechaunism, Rabson-Mendenhall syndrome, acquired generalized lipodystrophy, and types A and B insulin resistance." "" + "seizures, benign familial neonatal, autosomal recessive" "" + "senile plaque formation" "" + "combined immunodeficiency due to ZAP70 deficiency" "Combined immunodeficiency due to ZAP70 deficiency is a very rare, severe, genetic, combined immunodeficiency disorder characterized by lymphocytosis, decreased peripheral CD8+ T-cells, and presence of normal circulating CD4+ T-cells, leading to immune dysfunction." "" + "Beemer-Langer syndrome" "Short rib-polydactyly syndrome (SRPS), Beemer-Langer type is an extremely rare type of SRPS developing prenatally or immediately after birth and characterized by short and narrow thorax with horizontally oriented ribs. Other bone features include small iliac bones, short tubular bones, bowing of long bones and rarely pre- and post-axial polydactyly. Brain defects are common and some cases of cleft lip, absent internal genitalia and renal, biliary and pancreatic cysts have been reported. The course is rapidly fatal." "" + "short stature-obesity syndrome" "" + "SHORT syndrome" "SHORT syndrome is a rare inherited condition of multiple anomalies whose name stands for short stature, hyperextensibility of joints, ocular depression, Rieger anomaly and teething delay which, along with mild intrauterine growth restriction, partial lipodystrophy, delayed bone age, hernias and progeroid appearance, are manifestations of the disease." "" + "syndromic hyperopia" "A hyperopia that is part of a larger syndrome." "" + "free sialic acid storage disease, infantile form" "" + "free sialic acid storage disease" "Free sialic acid storage disease (free SASD), is a group of lysosomal storage diseases characterized by a spectrum of clinical manifestations including neurological and developmental disorders with severity ranging from the milder phenotype, Salla disease (SD), to the most severe phenotype, infantile free sialic acid storage disease (ISSD)." "" + "sialuria" "Sialuria is an extremely rare metabolic disorder described in fewer than 10 patients to date and characterized by variable signs and symptoms, mostly in infancy, including transient failure to thrive, slightly prolonged neonatal jaundice, equivocal or mild hepatomegaly, microcytic anemia, frequent upper respiratory infections, gastroenteritis, dehydration and flat and coarse facies. Learning difficulties and seizures may occur in childhood." "" + "disorder of sialic acid metabolism" "" + "situs inversus" "A congenital condition in which there is complete right-to-left reversal of the position of the major thoracic and abdominal organs (that is, they are arranged in a mirror image of the normal positioning)." "" + "Sjogren syndrome" "An autoimmune disorder in which immune cells attack and destroy the glands that produce tears and saliva. Sjögren syndrome is also associated with rheumatic disorders such as rheumatoid arthritis or systemic lupus erythematosus. The hallmark symptoms of Sjögren syndrome are dry mouth and dry eyes. In addition, Sjogren syndrome may cause skin, nose, and vaginal dryness. It also may affect other organs of the body including the kidneys, blood vessels, lungs, liver, pancreas, and brain" "" + "IgG4-related dacryoadenitis and sialadenitis" "IgG4-related dacryoadenitis and sialoadenitis (Mikulicz disease) is an IgG4-related sclerosing disease characterized by persistent, usually painless, bilateral enlargement of the lacrimal, parotid, and submandibular glands associated with elevated levels of serum immunoglobulin (Ig) G4 and with lymphocyte and IgG4-positive plasmacyte infiltration. It predominantly causes mouth and eye dryness but can also affect other organs such as the lungs, liver, and kidneys, and be accompanied by complications such as autoimmune pancreatitis (AIP), retroperitoneal fibrosis, and tubulointerstitial nephritis." "" + "Sjogren-Larsson syndrome" "A neurocutaneous disorder caused by an inborn error of lipid metabolism and characterized by congenital ichthyosis, intellectual deficit, and spasticity." "" + "Sjogren-Larsson-like ichthyosis without CNS or eye involvement" "" + "generalized peeling skin syndrome" "Generalized peeling skin syndrome (PSS) is a form of PSS presenting with a generalized distribution. It comprises two sub-types: the non-inflammatory (PSS type A) and the inflammatory (PSS type B) form. PSS type A is characterized by generalized white scaling with superficial peeling of the skin, while PSS type B is characterized by superficial patchy peeling of the entire skin with underlying erythroderma, associated with pruritus, and atopy." "" + "peeling skin syndrome" "Peeling skin syndrome (PSS) refers to a group of rare autosomal recessive forms of ichthyosis that is characterized clinically by superficial, asymptomatic, spontaneous peeling of the skin and histologically by a shedding of the outer layers of the epidermis. PSS presents with either an acral (acral PSS) or a generalized distribution (generalized PSS type A (non inflammatory) or B (inflammatory)). Some cases remain difficult to classify, suggesting that there could be additional subtypes of PSS." "" + "anosmia for butyl mercaptan" "" + "Smith-Lemli-Opitz syndrome" "Smith-Lemli-Opitz syndrome (SLOS) is characterized by multiple congenital anomalies, intellectual deficit, and behavioral problems." "" + "cholesterol biosynthetic process disease" "A disease that has its basis in the disruption of cholesterol biosynthetic process." "" + "congenital secretory sodium diarrhea 3" "Any secretory diarrhea in which the cause of the disease is a mutation in the SPINT2 gene." "" + "congenital sodium diarrhea" "Congenital sodium diarrhea is characterized by severe watery diarrhea containing high concentrations of sodium, hyponatremia and metabolic acidosis." "" + "sodium-potassium-ATPase activity of red cell" "" + "growth delay due to insulin-like growth factor I resistance" "Growth delay due to IGF-I resistance is characterised by variable intrauterine and postnatal growth retardation and elevated serum IGF-I levels. Addition features include variable degrees of intellectual deficit, microcephaly and dysmorphism (broad nasal bridge and tip, smooth philtrum, thin upper and everted lower lips, short fingers, clinodactyly, wide-set nipples and pectus excavatum)." "" + "congenital heart defect-round face-developmental delay syndrome" "Heart defect B round face B congenital developmental delay is very rare syndrome described in three sibs of one Japanese family and characterized by congenital heart disease, round face with depressed nasal bridge, small mouth, short stature, and relatively dark skin and typical dermatoglyphic anomalies, and intellectual deficit." "" + "ataxia, spastic, childhood-onset, autosomal recessive, with optic atrophy and intellectual disability" "" + "Charlevoix-Saguenay spastic ataxia" "Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a neurodegenerative disorder characterised by early-onset cerebellar ataxia with spasticity, a pyramidal syndrome and peripheral neuropathy." "" + "autosomal recessive cerebellar ataxia" "Autosomal recessive cerebellar ataxias (ARCA) are a heterogeneous group of rare neurological disorders involving both the central and peripheral nervous system (and in some cases other systems and organs), and characterized by degeneration or abnormal development of the cerebellum and spinal cord and, in most cases, early onset occurring before the age of 20 years." "" + "autosomal recessive spastic ataxia" "Autosomal recessive form of spastic ataxia." "" + "spastic diplegia and intellectual disability" "" + "hereditary spastic paraplegia 17" "Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the BSCL2 gene." "" + "hereditary spastic paraplegia 15" "Autosomal recessive spastic paraplegia type 15 is a complex form of hereditary spastic paraplegia characterized by a childhood to adulthood onset of slowly progressive lower limb spasticity (resulting in gait disturbance, extensor plantar responses and decreased vibration sense) associated with mild intellectual disability, mild cerebellar ataxia, peripheral neuropathy (with distal upper limb amyotrophy) and retinal degeneration. Thin corpus callosum is a common imaging finding." "" + "obsolete paraplegia-brachydactyly-cone-shaped epiphysis syndrome" "This syndrome is characterized by slowly progressive spastic paraplegia, skeletal anomalies of the hands and feet with brachydactyly type E, cone-shaped epiphyses, abnormal metaphyseal phalangeal pattern profile, sternal anomaly (pectus carinatum or excavatum), dysarthria, and mild intellectual deficit. It has been reported in five patients, among which there were two sets of identical twins. The significance of the relationship between the twinning process and the condition is not clear. The mode of inheritance is unknown but single-gene transmission seems likely." "" "true" + "hereditary spastic paraplegia 23" "Autosomal recessive spastic paraplegia type 23 (SPG23) is a rare, complex type of hereditary spastic paraplegia that presents in childhood with progressive spastic paraplegia, associated with peripheral neuropathy, skin pigment abnormalities (i.e. vitiligo, hyperpigmentation, diffuse lentigines), premature graying of hair, and characteristic facies (i.e. thin with ''sharp'' features). The SPG23 phenotype has been mapped to a locus on chromosome 1q24-q32." "" + "hereditary spastic paraplegia 5A" "Autosomal recessive spastic paraplegia type 5A (SPG5A) is a form of hereditary spastic paraplegia characterized by either a pure phenotype of slowly progressive spastic paraplegia of the lower extremities with bladder dysfunction and pes cavus or a complex presentation with additional manifestations including cerebellar signs, nystagmus, distal or generalized muscle atrophy and cognitive impairment. Age of onset is highly variable, ranging from early childhood to adulthood. White matter hyperintensity and cerebellar and spinal cord atrophy may be noted, on brain magnetic resonance imaging, in some patients." "" + "spastic paraplegia with myoclonic epilepsy" "" + "spastic paraplegia-glaucoma-intellectual disability syndrome" "Spastic paraplegia-glaucoma-intellectual disability syndrome is characterized by progressive spastic paraplegia, glaucoma and intellectual deficit. It has been described in two families. The second described sibship was born to consanguineous parents. The mode of inheritance is autosomal recessive." "" + "spastic pseudosclerosis" "" + "spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome" "Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome is characterized by nonprogressive spastic paraplegia, retinitis pigmentosa, and intellectual deficit. It has been described in two brothers born to consanguineous parents." "" + "spermatogenic failure 4" "Any azoospermia in which the cause of the disease is a mutation in the SYCP3 gene." "" + "hereditary spherocytosis type 3" "Any hereditary spherocytosis in which the cause of the disease is a mutation in the SPTA1 gene." "" + "spinal muscular atrophy with intellectual disability" "" + "spinal muscular atrophy with microcephaly and mental subnormality" "" + "spinal muscular atrophy, type IV" "Proximal spinal muscular atrophy type 4 (SMA4) is the adult-onset form of proximal spinal muscular atrophy characterized by muscle weakness and hypotonia resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei." "" + "spinal muscular atrophy, Ryukyuan type" "" + "scapuloperoneal spinal muscular atrophy, autosomal recessive" "" + "obsolete spinal muscular atrophy, type I, with congenital bone fractures" "" "true" + "infantile onset spinocerebellar ataxia" "Infantile-onset spinocerebellar ataxia (IOSCA) is a hereditary neurological disorder with early and severe involvement of both the peripheral and central nervous systems. It has only been described in Finnish families." "" + "autosomal recessive cerebellar ataxia-blindness-deafness syndrome" "" + "autosomal recessive syndromic cerebellar ataxia" "" + "spinocerebellar ataxia-dysmorphism syndrome" "Spinocerebellar ataxia-dysmorphism is marked by characteristic facies associated with dysarthria, delayed psychomotor development, ataxia, scoliosis and foot deformities. Three cases have been described and transmission appears to be autosomal recessive." "" + "corneal-cerebellar syndrome" "A rare, genetic, neurological disorder characterized by the association of slowly progressive spinocerebellar degeneration and corneal dystrophy, manifesting with bilateral corneal opacities (which lead to severe visual impairment), mild intellectual disability, ataxia, gait disturbances, and tremor. Additional manifestations include facial dysmorphism (i.e. triangular face, ptosis, low-set, posteriorly angulated ears, and micrognathia), as well as mild upper motor neuron involvement with hypertonia, lower limb hyperreflexia and extensor plantar responses. There have been no further descriptions in the literature since 1985." "" + "spastic ataxia-corneal dystrophy syndrome" "Mousa-AlDin-AlNassar syndrome is characterised by the presence of spastic ataxia in association with bilateral congenital cataract, corneal dystrophy, and nonaxial myopia." "" + "spinocerebellar degeneration with slow eye movements" "" + "familial isolated congenital asplenia" "Familial isolated congenital asplenia is a rare, non-syndromic, potentially life-threatening visceral malformation characterized by the absence of normal spleen function, resulting in a primary immunodeficiency. Typically, the condition manifests with severe, recurrent, overwhelming infections (especially pneumococcal sepsis) in otherwise apparently healthy infants. In adults with no history of severe sepsis in infancy, thrombocytosis may be the presenting sign. Howell-Jolly bodies on blood smears and an absent spleen on abdominal ultrasound examination are highly suggestive associated findings." "" + "splenoportal vascular anomalies" "" + "spondyloepimetaphyseal dysplasia, sponastrime type" "A rare genetic disorder characterized by bone marrow failure, spinal abnormalities, saddle nose, and metaphysical striation." "" + "spondylocostal dysostosis-anal and genitourinary malformations syndrome" "Spondylocostal dysostosis-anal and genitourinary malformations syndrome is characterised by the association of spondylocostal dysostosis with anal and genitourinary malformations (anal atresia and agenesis of external and internal genitalia). To date, only four cases have been described in the literature. Autosomal recessive inheritance has been suggested." "" + "brachyolmia type 1, Hobaek type" "" + "autosomal recessive brachyolmia" "Brachyolmia, recessive type is a form of brachyolmia, a group of rare genetic skeletal disorders, characterized by short-trunked short stature with platyspondyly and scoliosis. Corneal opacities and precocious calcification of the costal cartilage are rare syndromic components. Premature pubarche may occur." "" + "obsolete spondyloenchondrodysplasia" "" "true" + "spondyloepiphyseal dysplasia tarda, autosomal recessive" "Autosomal recessive form of spondyloepiphyseal dysplasia tarda." "" + "spondyloepiphyseal dysplasia tarda, Kohn type" "Spondyloepiphyseal dysplasia tarda, Kohn type is characterized by short trunk dwarfism, progressive involvement of the spine and epiphyses and mild-to-moderate intellectual deficit." "" + "brachyolmia type 1, toledo type" "" + "spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures" "Any spondyloepimetaphyseal dysplasia with joint laxity in which the cause of the disease is a mutation in the B3GALT6 gene." "" + "spondyloepimetaphyseal dysplasia with joint laxity" "A form of skeletal dysplasia characterized by severe dwarfism, generalized articular hypermobility, and progressive spinal malalignment." "" + "spondyloepimetaphyseal dysplasia, Irapa type" "Spondyloepimetaphyseal dysplasia, Irapa type is characterized by disproportionate short-trunked short stature, pectus carinatum, short arms, short and broad hands, short metatarsals, flat and broad feet, coxa vara, genu valgum, osteoarthritis, arthrosis and moderate-to-serious gait impairment." "" + "spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome" "Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome is a rare, genetic primary bone dysplasia disorder characterized by disproportionate short stature with shortening of upper and lower limbs, short and broad fingers with short hands, narrowed chest with rib abnormalities and pectus excavatum, abnormal chondral calcifications (incl. larynx, trachea and costal cartilages) and facial dysmorphism (frontal bossing, hypertelorism, prominent eyes, short flat nose, wide nostrils, high-arched palate, long philtrum). Platyspondyly (esp. of cervical spine) and abnormal epiphyses and metaphyses are observed on radiography. Atlantoaxial instability causing spinal compression and recurrent respiratory disease are potential complications that may result lethal." "" + "spondyloperipheral dysplasia-short ulna syndrome" "An autosomal dominant condition caused by mutation(s) in the COL2A1 gene, encoding collagen alpha-1(II) chain. It is characterized by short stature, pugilistic facies, midface hypoplasia, spondyloepiphyseal dysplasia, kyphosis, short ulna, and absent styloid process. Mutation(s) in the same gene are responsible for Kniest dysplasia." "" + "Canavan disease" "A neurodegenerative disorder; its spectrum varies between severe forms with leukodystrophy, macrocephaly and severe developmental delay, and a very rare mild/juvenile form characterized by mild developmental delay." "" + "inborn aminoacylase deficiency" "An acquired metabolic disease that is has its basis in the disruption of aminoacylase activity." "" + "amino acid or protein metabolism disease with epilepsy" "True" + "familial infantile bilateral striatal necrosis" "The familial form of infantile bilateral striatal necrosis (IBSN), a syndrome of bilateral symmetric spongy degeneration of the caudate nucleus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis." "" + "infantile bilateral striatal necrosis" "Several syndromes of bilateral symmetric spongy degeneration of the caudate nucleaus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis. IBSN can be familial or sporadic." "" + "subaortic stenosis, membranous" "" + "discrete fixed membranous subaortic stenosis" "" + "subaortic stenosis-short stature syndrome" "" + "succinic semialdehyde dehydrogenase deficiency" "Succinic semialdehyde dehydrogenase (SSADH) deficiency is a rare neurometabolic disorder of gamma-aminobutyric acid (GABA) metabolism with a nonspecific clinical presentation (ranging from mild to severe) with the most frequent symptoms being cognitive impairment with prominent deficit in expressive language, hypotonia, ataxia, epilepsy, and behavioral dysregulation." "" + "sucrosuria, hiatus hernia and intellectual disability" "" + "Schilder disease" "Schilder's disease is a progressive demyelinating disorder of the central nervous system." "" + "multiple sclerosis variant" "" + "obsolete sudden infant death syndrome" "Sudden infant death syndrome (SIDS) is the unexpected, sudden death of a child under age 1 which cannot be explained after a thorough investigation is conducted. Infants who are affected by the condition generally appear healthy with no suspicious signs and symptoms prior to the incident. It is the leading cause of death in infants age 1 to 12 months old. The exact underlying cause of SIDS is unknown; however, scientists suspect that it is likely a multifactorial condition (associated with the effects of multiple genes in combination with lifestyle and environmental factors). Although there is no guaranteed way to prevent SIDS, the American Academy of Pediatrics has a published list of recommendationsfor risk reduction. Please click on the link to access this resource." "" "true" + "Sugarman brachydactyly" "Sugarman brachydactyly is a rare, genetic, congenital limb malformation characterized by brachydactyly of fingers, with major proximal phalangeal shortening and immobile proximal interphalangeal joints, as well as dorsally and proximally placed, non-articulating great toes (with or without angulation). Radiographic findings of hands include bilateral double first metacarpals and biphalangeal fifth fingers. There have been no further descriptions in the literature since 1982." "" + "mucosulfatidosis" "Multiple sulfatase deficiency (MSD) is a very rare and fatal lysosomal storage disease characterized by a clinical phenotype that combines the features of different sulfatase deficiencies (whether lysosomal or not) that can have neonatal (most severe), infantile (most common) and juvenile (rare) presentations with manifestations including hypotonia, coarse facial features, mild deafness, skeletal anomalies, ichthyosis, hepatomegaly, developmental delay, progressive neurologic deterioration and hydrocephalus." "" + "isolated sulfite oxidase deficiency" "" + "encephalopathy due to sulfite oxidase deficiency" "Encephalopathy due to sulfite oxidase deficiency is a rare neurometabolic disorder characterized by seizures, progressive encephalopathy and lens dislocation." "" + "Summitt syndrome" "Summitt syndrome is an extremely rare disorder originally described in two brothers and characterized by mild to severe craniosynostosis and syndactyly, obesity, and normal intelligence. Acrocephaly, brachydactyly, clinodactyly, mild syndactyly of the hands and feet, genu valgum and marked obesity were later described in another patient. There have been no further descriptions in the literature since 1979. Summitt syndrome could be a variant of Carpenter syndrome." "" + "Cold-induced sweating syndrome 1" "Crisponi syndrome (CS) is a severe disorder characterized by muscular contractions at birth, intermittent hyperthermia, facial abnormalities and camptodactyly." "" + "cold-induced sweating syndrome" "Cold-induced sweating syndrome (CISS) is characterized by profuse sweating (involving the chest, face, arms and trunk) induced by cold ambient temperature." "" + "Filippi syndrome" "Filippi syndrome is characterised by microcephaly, cutaneous syndactyly of the fingers and toes, intellectual deficit, growth retardation and a characteristic facies (high and broad nasal bridge, thin alae nasi, micrognathia and a high frontal hairline). So far, less than 25 cases have been reported. Cryptorchidism, polydactyly, and teeth and hair anomalies may also be present. Transmission is autosomal recessive." "" + "syndesmodysplasic dwarfism" "" + "spondylocarpotarsal synostosis syndrome" "Spondylocarpotarsal synostosis (SCT) syndrome is a skeletal dysplasia clinically characterized by postnatal progressive vertebral fusions frequently manifesting as block vertebrae, contributing to an undersized trunk and a disproportionate short stature, scoliosis, lordosis, carpal and tarsal synostosis, with club feet and a mild facial dysmorphism." "" + "ataxia-tapetoretinal degeneration syndrome" "" + "tardive dyskinesia" "" + "Tatsumi factor deficiency" "" + "taurodontism" "Taurodontism is a dental anomaly characterized by an elongated pulp chamber, displaced toward the apical floor of the tooth with no constriction at the level of the cemento-enamel junction, and short roots. It most frequently affects permanent molar teeth. Taurodontism increases the risk of pulp exposure. It can be isolated or associated with certain syndromes such as Down syndrome, amelogenesis imperfecta, and Klinefelter syndrome." "" + "Tay-Sachs disease AB variant" "GM2 gangliosidosis, AB variant is an extremely rare, severe genetic disorder characterized by progressive neurological decline due to ganglioside activator deficiency." "" + "Tay-Sachs disease" "GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency." "" + "Teebi-Shaltout syndrome" "Teebi-Shaltout syndrome is a rare, genetic, development defect during embryogenesis malformation syndrome characterized by association of characteristic facial features (including abnormal head shape with narrow forehead, hypertelorism, telecanthus, small earlobes, broad nasal bridge and tip, underdeveloped ala nasi, small/wide mouth and high/cleft palate), ectodermal dysplasia (including oligodontia with delayed dentition, slow growing hair and reduced sweating) and skeletal abnormalities including camptodactyly and caudal appendage. Short stature and abnormal palmar creases are additional clinical features." "" + "taurodontia-absent teeth-sparse hair syndrome" "This syndrome is characterised by congenital absence of the teeth, and sparse or absent hair. Taurodontia is also present in the majority of cases. The syndrome has been described in less than 15 patients from different families." "" + "teeth, fused" "" + "non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome" "Noneruption of teeth - maxillary hypoplasia - genu valgum is an extremely rare syndrome that is characterized by multiple unerupted permanent teeth, hypoplasia of the alveolar process and of the maxillo-zygomatic region, severe genu valgum and deformed ears." "" + "teratoma, pineal" "" + "testes, rudimentary" "" + "obsolete testicular regression syndrome" "" "true" + "gonadal germ cell tumor" "" + "tetraamelia with ectodermal dysplasia and lacrimal duct abnormalities" "" + "tetraamelia-multiple malformations syndrome" "Tetraamelia - multiple malformations is an extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent." "" + "odontotrichomelic syndrome" "Odontotrichomelic syndrome is characterised by malformations of all four extremities, hypoplastic nails, ear anomalies, hypotrichosis, abnormal dentition, hyperhidrosis and nasolacrimal duct obstruction. So far, it has been described in less than 10 patients. Transmission is autosomal recessive." "" + "thalamic degeneration, symmetric infantile" "" + "thalidomide susceptibility" "" + "thanatophoric dysplasia, Glasgow variant" "" + "thoracic dysplasia-hydrocephalus syndrome" "" + "thoracomelic dysplasia" "" + "3M syndrome 1" "Any 3-M syndrome in which the cause of the disease is a mutation in the CUL7 gene." "" + "inherited threoninemia" "" + "obsolete Glanzmann's thrombasthenia" "" "true" + "thrombocytopenia 3" "" + "thrombocytopenia-absent radius syndrome" "Thrombocytopenia-absent radius (TAR) syndrome is a very rare congenital malformation syndrome characterized by bilateral radial aplasia and thrombocytopenia." "" + "congenital thrombotic thrombocytopenic purpura" "Congenital thrombotic thrombocytopenic purpura is the hereditary form of thrombotic thrombocytopenic purpura (TTP) characterized by profound peripheral thrombocytopenia, microangiopathic hemolytic anemia (MAHA) and single or multiple organ failure of variable severity." "" + "thrombotic thrombocytopenic purpura" "Thrombotic thrombocytopenic purpura (TTP) is an aggressive and life-threatening form of thrombotic microangiopathy (TMA) characterized by profound peripheral thrombocytopenia, microangiopathic hemolytic anemia (MAHA) and organ failure of variable severity and is comprised of congenital TTP and acquired TTP." "" + "absent thumb-short stature-immunodeficiency syndrome" "An exceedingly rare, autosomal recessive immune disease characterized by thumb aplasia, short stature with skeletal abnormalities, and combined immunodeficiency described in three sibships from two possibly related families. The skeletal abnormalities included unfused olecranon and the immunodeficiency manifested with severe chickenpox and chronic candidiasis. No new cases have been reported since 1978." "" + "primary immunodeficiency due to a defect in adaptive immunity" "" + "thumb, distal hyperextensibility of" "" + "upper limb defect-eye and ear abnormalities syndrome" "Upper limb defect - eye and ear abnormalities syndrome associates upper limb defects (hypoplastic thumb with hypoplasia of the metacarpal bone and phalanges and delayed bone maturation), developmental delay, central hearing loss, unilateral poorly developed antihelix, bilateral choroid coloboma and growth retardation." "" + "thymic aplasia with fetal death" "" + "thymoma, familial" "An instance of thymoma (disease) that is caused by an inherited modification of the individual's genome." "" + "thyrocerebrorenal syndrome" "Thyrocerebrorenal syndrome is characterized by renal, neurologic, thyroid disease, associated with thrombocytopenia. It has been described in a brother and his sister. Intelligence was normal. It is transmitted as an autosomal recessive trait." "" + "thymic-renal-anal-lung dysplasia" "This syndrome is characterised by intrauterine growth retardation, renal dysgenesis and a unilobed or absent thymus." "" + "dihydropyrimidine dehydrogenase deficiency" "Dihydropyrimidine dehydrogenase (DPD) deficiency isaconditionin which the body cannot break down the nucleotides thymine and uracil. DPD deficiency can have a wide range of severity; some individuals may have various neurological problems, while others have no signsand symptoms. Signs and symptoms in severely affected individuals begin in infancy and may include seizures, intellectual disability, microcephaly, increased muscle tone (hypertonia), delayed motor skills, and autistic behavior. All individuals with the condition, regardless of the presence or severity of symptoms, are at risk for severe, toxic reactions to drugs called fluoropyrimidines which are used to treat cancer. Individuals with no symptoms may be diagnosed only by laboratory testing or after exposure to fluoropyrimidines. DPD deficiency is caused by mutations in the DPYD gene and is inherited in an autosomal recessive manner." "" + "thyroid hormone resistance, generalized, autosomal recessive" "A rare, autosomal recessive inherited disorder usually caused by mutations in the THRB gene. It is characterized by a defective physiological resistance to thyroid hormones, resulting in the elevation of thyroxin and triiodothyronine in the serum." "" + "familial thyroid dyshormonogenesis" "A type of primary congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth, which results from inborn errors of thyroid hormone synthesis." "" + "primary congenital hypothyroidism without thyroid developmental anomaly" "Primary congenital hypothyroidism without thyroid developmental anomaly is a type of primary congenital hypothyroidism in which the thyroid gland is anatomically normal." "True" + "thyroid dyshormonogenesis 2A" "Thyroid peroxidase system defect due to presumed mutation(s) in the TPO gene, resulting in decreased activity of thyroid peroxidase." "" + "Pendred syndrome" "Pendred syndrome (PDS) is a clinically variable genetic disorder characterized by bilateral sensorineural hearing loss and euthyroid goiter." "" + "thyroid dyshormonogenesis 3" "Any familial thyroid dyshormonogenesis in which the cause of the disease is a mutation in the TG gene." "" + "thyroid dyshormonogenesis 4" "Any familial thyroid dyshormonogenesis in which the cause of the disease is a mutation in the IYD gene." "" + "thyroid dyshormonogenesis 5" "Any familial thyroid dyshormonogenesis in which the cause of the disease is a mutation in the DUOXA2 gene." "" + "isolated thyroid-stimulating hormone deficiency" "Isolated thyroid-stimulating hormone (TSH) deficiency is a type of central congenital hypothyroidism, a permanent thyroid deficiency that is present from birth, characterized by low levels of thyroid hormones due to a deficiency in TSH synthesis." "" + "central congenital hypothyroidism" "Central or secondary congenital hypothyroidism is a type of permanent congenital hypothyroidism characterized by permanent thyroid hormone deficiency that is present from birth and secondary to a disorder in the thyroid-stimulating hormone (TSH) - thyrotropin-releasing hormone (TRH) system." "" + "isolated thyrotropin-releasing hormone deficiency" "Hypothyroidism due to dysfunction of the hypothalamus, assumed to result in reduced secretion of thyrotropin- releasing hormone." "" + "tiglic acidemia" "" + "hypothyroidism due to TSH receptor mutations" "Hypothyroidism due to thyroid-stimulating hormone (TSH) receptor mutations is a type of primary congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth due to thyroid resistance to TSH." "" + "lethal restrictive dermopathy" "Restrictive dermopathy (RD) is a neonatal lethal genetic disease characterized by very tight and thin skin with erosions and scaling, associated to a typical facial dysmorphism, arthrogryposis multiplex, fetal akinesia or hypokinesia deformation sequence (FADS) and pulmonary hypoplasia without neurological abnormalities." "" + "tibial hemimelia" "Tibial hemimelia is a rare congenital anomaly characterized by deficiency of the tibia with a relatively intact fibula." "" + "hemimelia" "Hemimelia is a limb malformation characterized by the absence or gross shortening of the lower portion of one or more of the limbs. The condition is designated according to which bone of the distal arm or leg is absent or defective and includes fibular, radial, tibial, or ulnar hemimelia. Hemimelia ranges in severity." "" + "tibia, absence of, with congenital deafness" "" + "Kerion celsi" "A rare inflammatory and suppurating type of tinea capitis, a skin infection caused by Trichophyton or Microsporum fungi, that predominantly affects the scalp and that is characterized by the development of painful crusty lesions covered with follicular pustules and surrounded by erythematous alopecic areas, that can later evolve into abscesses and leave permanent cicatricial alopecia. Lesions can be associated with regional lymphadenopathy." "" + "tongue, pigmented fungiform papillae of" "" + "Mounier-Kuhn syndrome" "Mounier-Kuhn syndrome, also known as idiopathic tracheobronchomegaly, is a congenital disorder characterized by marked dilatation of the trachea and proximal bronchi that leads to impaired airway secretion clearance and recurrent lower respiratory tract infections." "" + "transcobalamin II deficiency" "Transcobalamin deficiency (TC) is a disorder of cobalamin transport that usually presents during the first few months of life and is characterized by megaloblastic anemia, failure to thrive, vomiting, weakness and pancytopenia." "" + "tricarboxylic acid cycle, defect of" "" + "trichomegaly-retina pigmentary degeneration-dwarfism syndrome" "Trichomegaly-retina pigmentary degeneration-dwarfism syndrome, also known as Oliver-McFarlane syndrome, is an extremely rare genetic disorder characterized by hair abnormalities, severe chorioretinal atrophy, hypopituitarism, short stature, and intellectual disability." "" + "trichoodontoonychial dysplasia" "Trichoodontoonychial dysplasia is a rare ectodermal dysplasia syndrome characterized by severe generalized hypotrichosis, parietal alopecia, secondary anodontia resulting from enamel hypoplasia, onychodystrophy, bone deficiency in the frontoparietal region and skin manifestations (incl. nevus pigmentosus, papules, ephelides, palmoplantar keratosis, supernumerary nipples, abnormal dermatoglyphics). There have been no further descriptions in the literature since 1983." "" + "trigonocephaly-bifid nose-acral anomalies syndrome" "Trigonocephaly-bifid nose-acral anomalies syndrome is characterized by trigonocephaly, brachycephaly, bulbous nose (bifid at the tip), micrognathia, macrostomia, hypotonia and relatively broad metatarsals and phalanges." "" + "Dorfman-Chanarin disease" "" + "neutral lipid storage disease" "Neutral lipid storage disease (NLSD) refers to a group of diseases characterized by a deficit in the degradation of cytoplasmic triglycerides and their accumulation in cytoplasmic lipid vacuoles in most tissues of the body. The group is heterogeneous: currently cases of NLSD with icthyosis (NLSDI/Dorfman-Chanarin disease) and NLSD with myopathy (NLSDM/neutral lipid storage myopathy) can be distinguished." "" + "Troyer syndrome" "Autosomal recessive spastic paraplegia type 20 (SPG20) is a type of complex hereditary spastic paraplegia characterized by an onset in infancy of progressive spastic paraparesis associated with distal amyotrophy, psuedobulbar palsy, motor and cognitive delays, mild cerebellar signs (dysarthria, dysdiadochokinesia, mild intention tremor), short stature and subtle skeletal abnormalities (pes cavus, mild talipes equinovarus, kyphoscoliosis). SPG20 is due to mutations in the SPG20 gene (13q13.1), which encodes the protein spartin." "" + "Tryptophanuria with dwarfism" "" + "T-substance anomaly" "" + "mismatch repair cancer syndrome 1" "A rare childhood cancer predisposition syndrome caused by biallelic inheritance of mutations in MLH1, MSH2, MSH6, or PMS2 genes. It is characterized by the development of childhood cancers, usually hematological malignancies and/or brain tumors, and colorectal cancers with multiple intestinal polyps. The majority of patients show signs of neurofibromatosis type 1." "" + "mismatch repair cancer syndrome" "" + "obsolete immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells" "" "true" + "tyrosinemia type II" "Tyrosinemia type 2 is an inborn error of tyrosine metabolism characterized by hypertyrosinemia with oculocutaneous manifestations and, in some cases, intellectual deficit." "" + "tyrosinemia type I" "Tyrosinemia type 1 (HTI) is an inborn error of tyrosine catabolism caused by defective activity of fumarylacetoacetate hydrolase (FAH) and is characterized by progressive liver disease, renal tubular dysfunction, porphyria-like crises and a dramatic improvement in prognosis following treatment with nitisinone." "" + "tyrosinemia type III" "Tyrosinemia type 3 is an inborn error of tyrosine metabolism characterised by mild hypertyrosinemia and increased urinary excretion of 4-hydroxyphenylpyruvate, 4-hydroxyphenyllactate and 4-hydroxyphenylacetate." "" + "Tyrosinosis" "" + "phocomelia, Schinzel type" "Schinzel phocomelia syndrome, also called limb/pelvis hypoplasia/aplasia syndrome, is characterized by skeletal malformations affecting the ulnae, pelvic bones, fibulae and femora. As the phenotype is similar to that described in the malformation syndrome known as Al-Awadi/Raas-Rothschild syndrome, they are thought to be the same disorder." "" + "ulna hypoplasia-intellectual disability syndrome" "Ulna hypoplasia - intellectual deficit is a very rare syndrome characterized by mesomelic shortness of the forearms, bilateral clubfeet, aplasia or hypoplasia of all nails and severe psychomotor retardation." "" + "ulnar agenesis and endocardial fibroelastosis" "" + "urocanic aciduria" "Encephalopathy due to urocanase deficiency is an extremely rare histidine metabolism disorder characterized by urocanic aciduria and other variable manifestations including intellectual deficit and intermittent ataxia in the 4 cases reported to date." "" + "Usher syndrome type 1" "A syndrome characterized by congenital, bilateral, severe sensorineural hearing loss, abnormalities in the vestibular system, and adolescent-onset retinitis pigmentosa." "" + "Usher syndrome" "A syndromic diseae characterized by the association of sensorineural deafness (usually congenital) with retinitis pigmentosa and progressive vision loss." "" + "Usher syndrome type 2A" "Any Usher syndrome in which the cause of the disease is a mutation in the USH2A gene." "" + "Usher syndrome type 2" "A syndrome characterized by congenital, bilateral sensorineural hearing loss that is mild to moderate in the low frequencies and severe to profound in the higher frequencies, no abnormalities in the vestibular system, and retinitis pigmentosa." "" + "Usher syndrome type 3A" "Any Usher syndrome in which the cause of the disease is a mutation in the CLRN1 gene." "" + "Usher syndrome type 3" "A syndrome characterized by postlingual progressive hearing loss, abnormalities in the vestibular system, and onset of retinitis pigmentosa symptoms usually by the second decade of life." "" + "Usher syndrome type 1C" "A form of Usher syndrome type I that is caused by homozygous or compound heterozygous mutation in the gene encoding harmonin on chromosome 11p15. It is inherited in an autosomal recessive manner." "" + "VACTERL with hydrocephalus" "VACTERL is an acronym for Vertebral anomalies, Anal atresia, Congenital cardiac disease, tracheoesophageal fistula, Renal anomalies, and Limb defects. VACTERL associated with hydrocephalus has rarely been reported and is thought to be an autosomal recessive anomaly. The condition is described as a uniformly lethal or developmentally devastating disorder distinct from the VATER association." "" + "Mayer-Rokitansky-Kuster-Hauser syndrome type 1" "Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1, a form of MRKH syndrome, is an isolated form of congenital aplasia of the uterus and 2/3 of the vagina occurring in otherwise phenotypically normal females." "" + "Mayer-Rokitansky-Kuster-Hauser syndrome" "Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome describes a spectrum of Mullerian duct anomalies characterized by congenital aplasia of the uterus and upper 2/3 of the vagina in otherwise phenotypically normal females. It can be classified as either MRKH syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations)." "" + "Valinemia" "Valinemia is a very rare metabolic disorder characterized by abnormally high levels of the amino acid valine in the blood and urine.Infants with valinemia reportedly experience lack of appetite, vomiting, and failure to thrive. In some cases, the condition may be life-threatening. Low muscle tone (hypotonia), excessive drowsiness, hyperactivity, and developmental delay have also been reported. Valinemia is caused by a deficiency of the enzymevaline transaminase, which is needed for the breakdown (metabolism) of valine in the body. It is inherited in an autosomal recessive manner, although the gene responsible for the condition is not yet known. Treatment includes adiet low in valine (introduced during early infancy) which usually improves symptoms and brings valine levels to normal." "" + "van Bogaert-Hozay syndrome" "" + "orofaciodigital syndrome type 6" "Joubert syndrome with orofaciodigital defect (or oral-facial-digital syndrome type 6, OFD6) is a very rare subtype of Joubert syndrome and related disorders (JSRD) characterized by the neurological features of JS associated with orofacial anomalies and often polydactyly." "" + "Joubert syndrome 17" "Any Joubert syndrome in which the cause of the disease is a mutation in the CPLANE1 gene." "" + "vascular hyalinosis" "A syndrome characterized by progressive hyalinosis involving capillaries and often arterioles and small veins of the digestive tract, kidneys, and idiopathic cerebral calcifications. It has been described in three sisters born to non-consanguineous parents. All three patients also had poikilodermia and greying hair, as well as severe diarrhoea, rectal bleeding, malabsorption and subarachnoid hemorrhage." "" + "congenital bilateral aplasia of vas deferens from CFTR mutation" "An autosomal recessive disorder that is associated with mutation(s) in the CFTR gene, encoding cystic fibrosis transmembrane conductance regulator. Mutation(s) in the same gene are associated with cystic fibrosis." "" + "congenital bilateral absence of vas deferens" "Congenital bilateral absence of the vas deferens (CBAVD) is a condition leading to male infertility." "" + "isolated right ventricular hypoplasia" "Isolated right ventricular hypoplasia (IRVH) is a rare congenital heart malformation characterized by underdevelopment of the right ventricle associated with patent foramen ovale or interauricular communication and normally developed tricuspid and pulmonary valves. IRVH manifests with severe cyanosis, congestive heart failure, and in severe cases, death in early infancy." "" + "autosomal recessive spondylocostal dysostosis" "Autosomal recessive spondylocostal dysostosis (ARSD) is a rare condition of variable severity associated with vertebral and rib segmentation defects and characterised by a short neck with limited mobility, winged scapulae, a short trunk, and short stature with multiple vertebral anomalies at all levels of the spine." "" + "oculogastrointestinal muscular dystrophy" "Oculogastrointestinal muscular dystrophy is an extremely rare autosomal recessively inherited neuromuscular disease characterized by ocular manifestations such as ptosis and diplopia followed by chronic diarrhea, malnutrion and intestinal peudo-obstruction." "" + "hypercarotenemia and vitamin A deficiency, autosomal recessive" "" + "methylmalonic aciduria and homocystinuria type cblF" "A form of methylmalonic acidemia with homocystinuria, an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. The disorder is caused by mutations in the LMBRD1 gene (6q13) and is transmitted in an autosomal recessive manner." "" + "methylmalonic acidemia with homocystinuria" "Methylmalonic acidemia with homocystinuria is an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. There are four complementation classes of cobalamin defects (cblC, cblD, cblF and cblJ) that are responsible for methylmalonic acidemia - homocystinuria (methylmalonic acidemia - homocystinuria cblC, cblD cblF and cblJ)." "" + "methylmalonic aciduria and homocystinuria type cblC" "A form of methylmalonic acidemia with homocystinuria, an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. cblC type methylmalonic acidemia with homocystinuria is caused by mutations in the MMACHC gene (1p36.3) and is transmitted in an autosomal recessive manner." "" + "methylmalonic aciduria and homocystinuria type cblD" "A form of methylmalonic acidemia with homocystinuria, an inborn error of vitamin B12 (cobalamin) metabolism characterized by variable biochemical, neurological and hematological manifestations." "" + "vitamin D-dependent rickets, type 2A" "Rickets caused by a defect in the VDR gene, encoding the vitamin D receptor. This form of rickets is characterized by hypocalcemia, elevated 1,25-dihydroxyvitamin D (calcitriol) concentrations and may also manifest with alopecia." "" + "vitamin D-dependent rickets, type 2" "Hypocalcemic vitamin D-resistant rickets (HVDRR) is a hereditary disorder of vitamin D action characterized by hypocalcemia, severe rickets and in many cases alopecia." "" + "vitamin K-dependent clotting factors, combined deficiency of, type 1" "Combined vitamin K-dependent clotting factors deficiency (VKCFD) is a congenital bleeding disorder resulting from variably decreased levels of coagulation factors II, VII, IX and X, as well as natural anticoagulants protein C, protein S and protein Z." "" + "familial isolated deficiency of vitamin E" "Ataxia with vitamin E deficiency (AVED) is a neurodegenerative disease belonging to the inherited cerebellar ataxias. It is mainly characterized by progressive spino-cerebellar ataxia, loss of proprioception, areflexia, and is associated with a marked deficiency in vitamin E." "" + "vitiligo, progressive, with intellectual disability and urethral duplication" "" + "pontocerebellar hypoplasia type 2A" "" + "pontocerebellar hypoplasia type 2" "Pontocerebellar hypoplasia type 2 (PCH2) is the most common subtype of pontocerebellar hypoplasia characterized by neonatal onset and a lack of voluntary motor development and later progressive microencephaly, generalized clonus, development of chorea and spasticity. The majority of patients will not reach puberty." "" + "von Willebrand disease 3" "Type 3 von Willebrand disease (type 3 VWD) is the most severe form of VWD characterized by a bleeding disorder associated with a total or near-total absence of Willebrand factor (von Willebrand factor; VWF) in the plasma and cellular compartments, also leading to a profound deficiency of plasmatic factor VIII (FVIII)." "" + "Waardenburg syndrome type 4A" "A subtype of Waardenburg syndrome type 4 (Waardenburg-Shah syndrome) caused by mutations in EDNRB." "" + "Waardenburg-Shah syndrome" "Waardenburg-Shah syndrome (WSS) is a neurocristopathy characterized by the association of Waardenburg syndrome (sensorineural hearing loss and pigmentary abnormalities) and Hirschsprung disease." "" + "Weaver syndrome" "Weaver syndrome (WVS) is a rare, multisystem disorder characterized by tall stature, a typical facial appearance (hypertelorism, retrognathia) and variable intellectual disability. Additional features may include camptodactyly, soft doughy skin, umbilical hernia, and a low hoarse cry." "" + "Weill-Marchesani syndrome 1" "Any Weill-Marchesani syndrome in which the cause of the disease is a mutation in the ADAMTS10 gene." "" + "Weill-Marchesani syndrome" "Weill-Marchesani syndrome (WMS) is a rare condition characterized by short stature, brachydactyly, joint stiffness, and characteristic eye abnormalities including microspherophakia, ectopia of the lens, severe myopia, and glaucoma." "" + "obsolete Weissenbacher-Zweymuller syndrome" "" "true" + "Werner syndrome" "Werner syndrome (WS) is a rare inherited syndrome characterized by premature aging with onset in the third decade of life and with cardinal clinical features including bilateral cataracts, short stature, graying and thinning of scalp hair, characteristic skin disorders and premature onset of additional age-related disorders." "" + "whistling face syndrome, recessive form" "" + "white forelock with malformations" "White forelock with malformations is a multiple congenital anomalies syndrome characterized by poliosis, distinct facial features (epicanthal folds, hypertelorism, posterior rotation of ears, prominent philtrum, high-arched palate) and congenital anomalies/malformations of the eye (blue sclera), cardiopulmonary (atrial septal defect, prominent thoracic and abdominal veins), and skeletal (clinodactyly, syndactyly of the fingers and 2nd and 3rd toes) systems. There have been no further descriptions in the literature since 1980." "" + "Wilson disease" "Wilson disease is a very rare inherited multisystemic disease presenting non-specific neurological, hepatic, psychiatric or osseo-muscular manifestations due to excessive copper deposition in the body." "" + "Winchester syndrome" "" + "obsolete Wiskott-Aldrich syndrome" "" "true" + "intellectual disability, Wolff type" "Intellectual disability, Wolff type is a rare intellectual disability syndrome characterized by severe intellectual disability, characteristic facial features (low anterior hairline, upward slanting palpebral fissures, ocular hypertelorism, broad, bulbous nose, large ears with helix incompletely developed, thick lips, and micrognathia) and additional anomalies including peripheral joint contractures, delayed skeletal maturation, bilateral cleft lip and palate, strabismus, terminal hypoplasia of fingers, hypospadias, and bilateral inguinal hernias." "" + "lysosomal acid lipase deficiency" "Lysosomal acid lipase deficiency is a lipid storage disease that can result in 1) an early-onset severe form, Wolman disease, or 2) a less severe form, cholesteryl ester storage disease, of cholesteryl ester accumulation in the body (liver, spleen, macrophages). Wolman disease is characterized by neonatal abdominal distension, major or even massive hepatosplenomegaly and calcified adrenal glands, cholesteryl ester storage disease presents with microvesicular steatosis leading to hepatomegaly and hypercholesterolaemia with subsequent liver failure and accelerated atherosclerosis." "" + "Wolman disease" "Wolman disease represents the most severe manifestation of lysosomal acid lipase deficiency. Milder phenotypes as a whole are referred to as cholesterol ester storage disease. The acid lipase enzyme plays an essential role in lysosomal hydrolysis of both esterified cholesterol and triglycerides of lipoproteic origin. In Wolman disease, the rarest form of acid lipase deficiency, these lipids accumulate in most tissues." "" + "Wolman disease with hypolipoproteinemia and acanthocytosis" "" + "hypotrichosis 8" "Any hypotrichosis in which the cause of the disease is a mutation in the LPAR6 gene." "" + "hypotrichosis simplex" "Hypotrichosis simplex (HS) or hereditary hypotrichosis simplex (HHS) is characterized by reduced pilosity over the scalp and body (with sparse, thin, and short hair) in the absence of other anomalies." "" + "woolly hair-hypotrichosis-everted lower lip-outstanding ears syndrome" "" + "wrinkly skin syndrome" "Wrinkly skin syndrome (WSS) is characterized by wrinkling of the skin of the dorsum of the hands and feet, an increased number of palmar and plantar creases, wrinkled abdominal skin, multiple skeletal abnormalities (joint laxity and congenital hip dislocation), late closing of the anterior fontanel, microcephaly, pre- and postnatal growth retardation, developmental delay and facial dysmorphism (a broad nasal bridge, downslanting palpebral fissures and hypertelorism)." "" + "xanthinuria type I" "A rare autosomal recessive disorder of purine metabolism characterized by the isolated deficiency of xanthine dehydrogenase, causing hyperxanthinemia with low or absent uric acid and xanthinuria, leading to urolithiasis, hematuria, renal colic and urinary tract infections, while some patients are asymptomatic and others suffer from kidney failure. Less common manifestations include arthropathy, myopathy and duodenal ulcer." "" + "hereditary xanthinuria" "Hereditary xanthinuria is a purine metabolism disorder due to inherited deficiency of the xanthine dehydrogenase/oxidase enzyme and is characterized by very low (or undetectable) concentrations of uric acid in blood and urine and very high concentration of xanthine in urine, leading to urolithiasis." "" + "xeroderma pigmentosum group A" "Any xeroderma pigmentosum in which the cause of the disease is a mutation in the XPA gene." "" + "xeroderma pigmentosum group C" "An autosomal recessive inherited disorder caused by mutations in the XPC gene. This disease is characterized by increased sensitivity to sunlight with the development of carcinomas at an early age and is caused by a defect in nucleotide excision repair." "" + "xeroderma pigmentosum group D" "Any xeroderma pigmentosum in which the cause of the disease is a mutation in the ERCC2 gene." "" + "xeroderma pigmentosum-Cockayne syndrome complex" "Xeroderma pigmentosum/Cockayne syndrome complex (XP/CS complex) is characterized by the cutaneous features of xeroderma pigmentosum (XP) together with the systemic and neurological features of Cockayne syndrome (CS)." "" + "xeroderma pigmentosum group E" "An autosomal recessive genetic disorder caused by mutations in the DDB2 gene. This disease exhibits the mildest degree of sun sensitivity of all xeroderma pigmentosum complementation groups, although individuals are at high risk for skin cancer." "" + "xeroderma pigmentosum variant type" "Xeroderma pigmentosum variant is a milder subtype of xeroderma pigmentosum (XP), a rare genetic photodermatosis characterized by severe sun sensitivity and an increased risk of skin cancer." "" + "xeroderma pigmentosum group F" "Any xeroderma pigmentosum in which the cause of the disease is a mutation in the ERCC4 gene." "" + "xeroderma pigmentosum group G" "Any xeroderma pigmentosum in which the cause of the disease is a mutation in the ERCC5 gene." "" + "de Sanctis-Cacchione syndrome" "A rare autosomal recessive inherited syndrome. It is characterized by xeroderma pigmentosum, mental retardation, dwarfism, hypogonadism, and neurologic abnormalities." "" + "46,XX sex reversal 2" "" + "46,XX testicular disorder of sex development" "46,XX testicular disorder of sex development (46,XX testicular DSD) is characterized by male external genitalia, ranging from normal to ambiguous with associated testosterone deficiency." "" + "xylosidase deficiency" "" + "Young syndrome" "Young syndrome is characterised by the association of obstructive azoospermia with recurrent sinobronchial infections." "" + "CHIME syndrome" "CHIME syndrome is a rare ectodermal dysplasia syndrome characterized by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy." "" + "inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation" "" + "X-linked Opitz G/BBB syndrome" "X-linked form of Opitz G/BBB syndrome." "" + "ichthyosis, X-linked, without steroid sulfatase deficiency" "" + "recessive X-linked ichthyosis" "A genodermatosis belonging to the Mendelian Disorders of Cornification (MeDOC) and characterized by generalized hyperkeratosis and scaling of the skin." "" + "corpus callosum agenesis-abnormal genitalia syndrome" "Corpus callosum agenesis-abnormal genitalia syndrome is a rare, genetic developmental defect during embryogenesis syndrome characterized by agenesis of the corpus callosum, mild to severe neurological manifestations (intellectual disability, developmental delay, epilepsy, dystonia), and urogenital anomalies (hypospadias, cryptorchidism, renal dysplasia, ambiguous genitalia). Additionally, skeletal anomalies (limb contractures, scoliosis), dysmorphic facial features (large eyes, prominent supraorbital ridges, synophris) and optic atrophy have been observed." "" + "ARX-related encephalopathy-brain malformation spectrum" "" + "Dent disease type 1" "Dent disease type 1 is a type of Dent disease with predominantly renal manifestations." "" + "Dent disease" "Dent disease is a rare genetic renal tubular disease characterized by manifestations of proximal tubule dysfunction." "" + "46,XY sex reversal 2" "" + "retinitis pigmentosa 3" "Any retinitis pigmentosa in which the cause of the disease is a mutation in the RPGR gene." "" + "RPGR-related retinopathy" "A retinopathy caused by a variant in the X-linked gene, RPGR." "" + "hearing loss, X-linked 3" "" + "X-linked nonsyndromic hearing loss" "X-linked form of nonsyndromic deafness." "" + "alopecia, congenital" "A congenital condition characterized by the absence of hair on the scalp or entire body. The lack of hair is rarely absolute and is usually accompanied by incompletely grown, lanugo-like hair. It affects males twice as much as females and a familial tendency is common." "" + "alopecia totalis" "Alopecia totalis is a form of alopecia areata, an inflammatory disease of the hair follicle, characterized by a complete loss of hair of the entire scalp which becomes glabrous." "" + "intellectual disability, X-linked 23" "" + "non-syndromic X-linked intellectual disability" "Nonspecific X-linked intellectual deficiencies (MRX) belong to the family of sex-linked intellectual deficiencies (XLMR). In contrast to syndromic or specific X-linked intellectual deficiencies (MRXS), which also present with associated physical, neurological and/or psychiatric manifestations, intellectual deficiency is the only symptom of MRX." "" + "intellectual disability, X-linked 20" "" + "intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked" "Intestinal pseudo-obstruction is a condition characterized by impairment of the muscle contractions that move food through the digestive tract. The condition may arise from abnormalities of the gastrointestinal muscles themselves (myogenic) or from problems with the nerves that control the muscle contractions (neurogenic). When intestinal pseudo-obstruction occurs by itself, it is called primary or idiopathic (unknown cause) intestinal pseudo-obstruction. The disorder can also develop as a complication of another medical condition; in these cases, it is called secondary intestinal pseudo-obstruction. Individuals with this condition have symptoms that resemble those of an intestinal blockage (obstruction) but without any obstruction. It may be acute or chronic and is characterized by the presence of dilation of the bowel on imaging. The causes may be unknown or due to alterations (mutations) in the FLNA gene, other genes or are secondary to other conditions. It may be inherited in some cases. Intestinal pseudoobstruction neuronal chronic idiopathic X-linked is caused by alterations (mutations) in the FLNA gene which is located in the X chromosome. There is no specific treatment but several medications and procedures may be used to treat the symptoms." "" + "congenital short bowel syndrome" "Congenital short bowel syndrome is a rare intestinal disorder of neonates of unknown etiology. Patients are born with a short small bowel (less than 75 cm in length) that compromises proper intestinal absorption and leads chronic diarrhea, vomiting and failure to thrive." "" + "chronic intestinal pseudoobstruction" "Chronic intestinal pseudo-obstruction (CIPO) is a rare gastrointestinal motility disorder characterized by recurring episodes resembling mechanical obstruction in the absence of organic, systemic, or metabolic disorders, and without any physical obstruction being detected by X-ray or during surgery. CIPO develops predominantly in children and may be present at birth." "" + "heterotopia, periventricular, X-linked dominant" "" + "periventricular nodular heterotopia" "Periventricular nodular heterotopia (PNH) is a brain malformation, due to abnormal neuronal migration, in which a subset of neurons fails to migrate into the developing cerebral cortex and remains as nodules that line the ventricular surface. Classical PNH is a rare X-linked dominant disorder far more frequent in females who present normal intelligence to borderline intellectual deficit, epilepsy of variable severity and extra-central nervous system signs, especially cardiovascular defects or coagulopathy. The disorder is generally associated with prenatal lethality in males." "" + "obsolete body length, mouse, human homolog" "" "true" + "X-linked intellectual disability-psychosis-macroorchidism syndrome" "" + "intellectual disability, X-linked 14" "" + "X-linked intellectual disability-plagiocephaly syndrome" "X-linked intellectual disability-plagiocephaly syndrome is characterised by severe intellectual deficit, brachycephaly, plagiocephaly, prominent forehead and coarse facial features. It has been described in two males from one family. Two females belonging to the same family displayed moderate intellectual deficit but no craniofacial dysmorphism." "" + "hearing loss, X-linked 4" "Any X-linked nonsyndromic deafness in which the cause of the disease is a mutation in the SMPX gene." "" + "lissencephaly type 1 due to doublecortin gene mutation" "Type 1 lissencephaly due to doublecortin (DCX) gene mutations is a semi-dominant X-linked disease characterised by intellectual deficiency and seizures that are more severe in male patients." "" + "subcortical band heterotopia" "A developmental brain abnormality characterized by atypical migration of neurons during cortical development." "" + "obsolete androgen insensitivity syndrome" "" "true" + "congenital stationary night blindness 2A" "Any congenital stationary night blindness in which the cause of the disease is a mutation in the CACNA1F gene." "" + "X-linked congenital stationary night blindness" "X-linked congenital stationary night blindness (XLCSNB) is a disorder of the retina. People with this condition typically experience night blindness and other vision problems, including loss of sharpness (reduced visual acuity), severe nearsightedness (myopia), nystagmus,and strabismus. Color vision is typically not affected. These vision problems are usually evident at birth, but tend to be stable (stationary) over time. There aretwo major types of XLCSNB: the complete form and the incomplete form. Bothtypes have very similar signs and symptoms. However, everyone with the complete form has night blindness, while not all people with the incomplete form have night blindness. The types are distinguished by their genetic cause." "" + "fetal akinesia syndrome, X-linked" "" + "X-linked immunoneurologic disorder" "X-linked immunoneurologic disorder is characterized by immune deficiency and neurological disorders in females, and by neonatal death in males." "" + "CGF1" "" + "X-linked cone-rod dystrophy 2" "" + "X-linked cone-rod dystrophy" "X-linked form of cone-rod dystrophy." "" + "developmental and epileptic encephalopathy, 9" "Female restricted epilepsy with intellectual disability is a rare X-linked epilepsy syndrome characterized by febrile or afebrile seizures (mainly tonic-clonic, but also absence, myoclonic, and atonic) starting in the first years of life and, in most cases, developmental delay and intellectual disability of variable severity. Behavioral disturbances (e.g. autistic features, hyperactivity, and aggressiveness) are also frequently associated. This disease affects exclusively females, with male carriers being unaffected, despite an X-linked inheritance." "" + "developmental and epileptic encephalopathy" "A complex neurodevelopmental disorder characterized by a range of developmental delays and epileptic encephalopathy phenotypes. Seizure onset is variable and intellectual disability is variable in presence and severity." "" + "X-linked intellectual disability-epilepsy syndrome" "" + "X-linked complex neurodevelopmental disorder" "A complex neurodevelopmental disorder that is transmitted via X-linked inheritance, and is characterized by intellectual disability, autism and epilepsy." "" + "X-linked cerebral adrenoleukodystrophy" "A peroxisomal disease characterized by severe inflammatory demyelination in the brain, and often associated with adrenal insufficiency." "" + "adrenoleukodystrophy" "A peroxisomal disorder resulting in cerebral demyelination, axonal dysfunction in the spinal cord leading to spastic paraplegia, adrenal insufficiency and in some cases testicular insufficiency." "" + "X-linked spondyloepimetaphyseal dysplasia" "X-linked form of spondyloepimetaphyseal dysplasia." "" + "obsolete X-linked B cell surface antigen, mouse, homolog-like 1" "" "true" + "intellectual disability, X-linked 49" "" + "intellectual disability, X-linked 50" "" + "intellectual disability, X-linked, with panhypopituitarism" "" + "X-linked intellectual disability with hypopituitarism" "An X-linked intellectual disability in which the cause of the disease is a mutation in the SOX3 gene, with variable phenotypes including growth hormone deficiency due to hypopituitarism. It is undetermined if SOX3 is the only gene associated with this disease." "" + "migraine, familial typical, susceptibility to, 2" "" + "obsolete hematopoietic stem cell kinetics, control of" "" "true" + "diabetes mellitus, insulin-dependent, X-linked, susceptibility to" "" + "intellectual disability, X-linked 21" "Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the IL1RAPL1 gene." "" + "prostate cancer, hereditary, X-linked 1" "" + "familial prostate carcinoma" "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." "" + "MEHMO syndrome" "MEHMO syndrome is characterised by severe intellectual deficit, epilepsy, microcephaly, hypogenitalism, and obesity. Growth delay and diabetes are also present. To date, it has been described in seven boys, all of whom died within the first two years of life. The causative gene has been localised to the 21.1-22.13p region of the X chromosome and the syndrome appears to result from mitochondrial dysfunction." "" + "retinitis pigmentosa 24" "A retinitis pigmentosa that has material basis in variation in the chromosome region Xq26-q27." "" + "arthrogryposis, congenital, lower limb, X-linked" "" + "microphthalmia, syndromic 2" "" + "microphthalmia, Lenz type" "Lenz microphthalmia syndrome is a very rare X-linked inherited form of syndromic microphthalmia characterized by unilateral or bilateral microphthalmia (and/or clinical anophthalmia) with or without coloboma in addition to a range of extraocular manifestations such as microcephaly, malformed ears, dental abnormalities (i.e. irregular shape of incisors), skeletal anomalies (duplicated thumbs, syndactyly, clinodactyly, camptodactyly), urogenital anomalies (hypospadias, cryptorchidism, renal dysgenesis, hydroureter) and mild to severe intellectual disability. It is allelic to two disorders: oculofaciocardiodental syndrome and premature aging appearance-developmental delay-cardiac arrhythmia syndrome." "" + "hypotonia, congenital nystagmus, ataxia, and abnormal auditory brainstem responses" "" + "Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome" "" + "partial deletion of the long arm of chromosome X" "" + "Simpson-Golabi-Behmel syndrome type 2" "Simpson-Golabi-Behmel syndrome (SGBS) type 2 is an extremely rare and severe, early-lethal form of SGBS, an overgrowth-multiple anomalies syndrome, characterized by hydrops fetalis, macrocephaly, facial dysmorphism (hypertelorism, low-set, posteriorly angulated ears, short and broad nose with anteverted nares, prominent philtrum, large mouth with thin upper vermilion border, high-arched and cleft palate), short neck, redundant skin, skeletal defects (involving upper and lower limbs), hypoplastic nails, gastrointestinal and genitourinary anomalies, hypotonia and neurologic impairment. Severe intellectual disability, obesity and infections (pneumonia, sepsis) have been reported." "" + "Simpson-Golabi-Behmel syndrome" "Simpson-Golabi-Behmel syndrome is a rare X-linked multiple congenital anomalies syndrome, characterized by pre- and postnatal overgrowth, distinctive craniofacial features, variable congenital malformations, organomegaly and an increased tumor risk." "" + "intellectual disability, X-linked 58" "Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the TSPAN7 gene." "" + "episodic muscle weakness, X-linked" "" + "X-linked lissencephaly with abnormal genitalia" "X-linked lissencephaly with abnormal genitalia (XLAG) is a severe neurological disorder that only manifests in genotypic males and includes lissencephaly with posterior-to-anterior gradient and only moderate increase in thickness of the cortex, absent corpus callosum, neonatal-onset severe epilepsy, hypothalamic dysfunction including defective temperature regulation, and ambiguous genitalia with micropenis and cryptorchidism. XLAG differs considerably from classical lissencephaly, as the resulting cortical thickness is only 6-7 mm in XLAG, rather than 15-20 mm seen in classical lissencephaly due to mutations of the PAFAH1B1 or DCX genes. In 2002, mutations in the X-linked aristaless-related homeobox gene (ARX ; Xp21.3) were identified in individuals with XLAG and in some of their female relatives. Mouse Arx and human ARX are highly expressed in both dorsal and ventral telencephalon, including the neocortical ventricular zone and germinal zone of the ganglionic eminence, with less intense signals in the subventricular zone, cortical plate, hippocampus, basal ganglia and ventral thalamus. Arx-deficient mice showed deficient tangential migration and abnormal differentiation of GABAergic interneurons in the ganglionic eminence and neocortex, as well as abnormal testicular differentiation. These characteristics include some of the clinical features of XLAG in humans. The ARX mutations in XLAG patients were predominantly premature termination mutations (large deletions, frameshift, nonsense mutations, splice site mutations) while the missense mutations were less common and located essentially in the homeobox domain. Patients carrying nonconservative missense mutations within the homeobox, showed less severe XLAG, while conservative substitution in the homeodomain caused Proud syndrome (ACC with abnormal genitalia). A non conservative missense mutation near the C-terminal aristaless domain caused unusually severe XLAG with microcephaly and mild cerebellar hypoplasia. The ARX mutations are also associated with a spectrum of milder phenotypes, without macroscopic malformations of the brain, such as X-linked infantile spasms, a syndrome featuring mental retardation associated with distal dystonic movements (Partington syndrome), autistic features and nonsyndromicintellectual deficit." "" + "Coats disease" "Coats disease (CD) is an idiopathic disorder characterized by retinal telangiectasia with deposition of intraretinal or subretinal exudates, potentially leading to retinal detachment and unilateral blindness. CD is classically an isolated and unilateral condition affecting otherwise healthy young children." "" + "secondary dysgenetic glaucoma" "A hereditary disease that is associated with congenital ocular anomalies such as conditions associated with mesodermal dysgenesis of the neural crest, phakomatoses characterized by hamartomas, metabolic disorders, mitotic disorders, and other congenital disorders and associated with acquired conditions such as tumors, uveitis, and trauma." "" + "syndromic X-linked intellectual disability 7" "Syndromic X-linked intellectual disability 7, also called MRXS7, is characterized by X-linked intellectual deficit, obesity, hypogonadism, and tapering fingers." "" + "X-linked myotubular myopathy-abnormal genitalia syndrome" "X-linked myotubular myopathy-abnormal genitalia syndrome is a rare chromosomal anomaly, partial deletion of the long arm of chromosome X, characterized by a combination of clinical manifestations of X-linked myotubular myopathy and a 46,XY disorder of sex development. Patients present with severe form of congenital myopathy and abnormal male genitalia." "" + "X-linked centronuclear myopathy" "X-linked myotubular myopathy (XLMTM) is an inherited neuromuscular disorder defined by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy." "" + "obsolete syndromic X-linked intellectual disability type 10" "" "true" + "lymphoma, Hodgkin, X-linked pseudoautosomal" "" + "testicular germ cell tumor 1" "" + "spondyloepimetaphyseal dysplasia, Bieganski type" "Spondyloepimetaphyseal dysplasia, Bieganski type is a rare primary bone dysplasia disorder characterized by infantile-onset, progressive, multiple skeletal deformities in association with slowly progressive central and peripheral neurodegeneration. Patients present short stature, coarse facies, psychomotor regression and cognitive impairment. Imaging shows abnormally-shaped vertebral bodies, small, flat epiphyses, and widened metaphyses, as well as cerebral and cerebellar atrophy and progressive axonal-hypomyelinating neuropathy." "" + "radioulnar synostosis, radial ray abnormalities, and severe malformations in the male" "" + "syndromic X-linked intellectual disability Shashi type" "X-linked intellectual disability, Shashi type is characterised by moderate intellectual deficit, obesity, macroorchidism and a characteristic facies (large ears, a prominent lower lip and puffy eyelids). It has been described in nine boys from two families. Transmission is X-linked and the causative gene has been localised to the q21.3-q27 region of the X chromosome." "" + "Christianson syndrome" "Christianson syndrome is a very rare form of syndromic intellectual deficit characterized by microcephaly, severe developmental delay or regression, hypotonia, abnormal movements, and early-onset seizures." "" + "terminal osseous dysplasia-pigmentary defects syndrome" "Terminal osseous dysplasia-pigmentary defects syndrome is characterised by malformation of the hands and feet, pigmentary skin lesions on the face and scalp and digital fibromatosis." "" + "ptosis, hereditary congenital 2" "" + "Danon disease" "Glycogen storage disease due to LAMP-2 (Lysosomal-Associated Membrane Protein 2) deficiency is a lysosomal glycogen storage disease characterised by severe cardiomyopathy and variable degrees of muscle weakness, frequently associated with intellectual deficit." "" + "mycobacterium tuberculosis, susceptibility to, X-linked" "" + "syndromic X-linked intellectual disability Lubs type" "Distal Xq duplications refer to chromosomal disorders resulting from involvement of the long arm of the X chromosome (Xq). Clinical manifestations vary widely depending on the gender of the patient and on the gene content of the duplicated segment. The prevalence of Xq duplications remains unknown." "" + "partial duplication of the long arm of chromosome X" "Chromosome Xq duplication is a chromosome abnormality that affects many different parts of the body. People with this condition have an extra copy of the genetic material located on the long arm (q) of the X chromosome in each cell. The severity of the condition and the associated signs and symptoms vary based on the size and location of theduplication;the genes involved; and the sex of the affected person. In general, males are typically more severely affected than females and often experience intellectual disability, developmental delay, short stature, abnormalities of the reproductive organs, anddistinctive craniofacial features. Many females with this duplication do not have any symptoms or are only affected with short stature; however, some may be just as severely affected as males with the condition. Most cases are inherited in an X-linked manner, often from a mother with no signs or symptoms of the condition. Treatment is based on the signs and symptoms present in each person." "" + "Armfield syndrome" "X-linked intellectual disability, Armfield type is characterised by intellectual deficiency, short stature, seizures, and small hands and feet. It has been described in six males from three generations of one family. Three of them also had cataracts/glaucoma and two of them had cleft palate. The locus has been mapped to the terminal 8 Mb of Xq28." "" + "syndromic X-linked intellectual disability Abidi type" "X-linked intellectual disability, Abidi type is characterized by X-linked intellectual deficit and mild variable manifestations, including short stature, small head circumference, sloping forehead, hearing loss, abnormally shaped ears, and small testes. It has been described in eight affected males from three generations." "" + "syndromic X-linked intellectual disability Siderius type" "" + "hereditary spastic paraplegia 16" "A hereditary spastic paraplegia that has material basis in variation in the chromosome region Xq11.2." "" + "pure or complex X-linked spastic paraplegia" "" + "adrenomyodystrophy" "Adrenomyodystrophy is an extremely rare genetic endocrine disease characterized by primary adrenal insufficiency, dystrophic myopathy, hepatic steatosis, severe psychomotor delay, megalocornea, failure to thrive, chronic constipation, and terminal bladder ectasia which can lead to death. There have been no further descriptions in the literature since 1982." "" + "intellectual disability, X-linked 72" "" + "goiter, multinodular 2" "" + "obsolete androgen insensitivity syndrome due to coactivator deficiency" "" "true" + "Uruguay Faciocardiomusculoskeletal syndrome" "" + "ectodermal dysplasia and immune deficiency" "" + "hypohidrotic ectodermal dysplasia" "A genetic disorder of ectoderm development characterized by malformation of ectodermal structures such as skin, hair, teeth and sweat glands. It comprises three clinically almost indistinguishable subtypes with impaired sweating as the key symptom: Christ-Siemens-Touraine (CST) syndrome (X-linked), autosomal recessive (AR), and autosomal dominant (AD) HED, as well as a fourth rare subtype with immunodeficiency as the key symptom (HED with immunodeficiency)." "" + "X-linked severe congenital neutropenia" "This syndrome is an immunodeficiency syndrome characterized by recurrent major bacterial infections, severe congenital neutropenia, and monocytopenia. It has been described in five males spanning three generations of one family. It is transmitted as an X-linked recessive trait and is caused by mutations in the WAS gene, encoding the WASP protein." "" + "anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome" "This syndrome is characterized by severe immunodeficiency, osteopetrosis, lymphedema and anhidrotic ectodermal dysplasia." "" + "immunodeficiency 61" "" + "FG syndrome 2" "Any FG syndrome in which the cause of the disease is a mutation in the FLNA gene." "" + "Lesch-Nyhan syndrome" "Lesch-Nyhan syndrome (LNS) is the most severe form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency, a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO), neurological troubles, and behavioral problems." "" + "hypoxanthine-guanine phosphoribosyltransferase deficiency" "Hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency is a hereditary disorder of purine metabolism associated with uric acid overproduction and a continuum spectrum of neurological manifestations depending on the degree of the enzyme deficiency." "" + "hypoxanthine guanine phosphoribosyltransferase partial deficiency" "Kelley-Seegmiller syndrome (KSS) is the mildest form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency, a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO) leading to urolithiasis, and early-onset gout." "" + "intellectual disability, X-linked 53" "" + "obsolete thrombocythemia, X-linked" "" "true" + "Ito hypomelanosis" "Hypomelanosis of Ito (HI) is a multisystemic neurocutaneous condition with hypopigmented skin lesions along the Blaschko lines." "" + "obsolete colobomatous microphthalmia" "" "true" + "Graves disease, susceptibility to, X-linked 1" "" + "creatine transporter deficiency" "X-linked creatine transporter deficiency (CRTR-D) is a creatine deficiency syndrome characterized clinically by global developmental delay/ intellectual disability (DD/ID) with prominent speech/language delay, autistic behavior and seizures." "" + "X-linked intellectual disability, Cabezas type" "X-linked intellectual disability, Cabezas type is characterised by intellectual deficit, muscle wasting, short stature, a prominent lower lip, small testes, kyphosis and joint hyperextensibility. An abnormal gait, tremor, decreased fine motor coordination and impaired speech are also present. The syndrome has been described in six boys from three generations of the same family. Transmission is X-linked and the causative gene has been localised to the q24-q25 region of the X chromosome." "" + "intellectual disability, X-linked 73" "" + "thrombocytopenia, X-linked, with or without dyserythropoietic anemia" "An X-linked condition caused by mutation(s) in the GATA1 gene, encoding erythroid transcription factor. It is characterized by thrombocytopenia, as well as abnormal platelet function and morphology. Dyserythropoietic anemia of variable severity may also be present." "" + "intellectual disability, X-linked 42" "" + "osteopathia striata with cranial sclerosis" "Osteopathia striata with cranial sclerosis (OS-CS) is a bone dysplasia characterized by longitudinal striations of the metaphyses of the long bones, sclerosis of the craniofacial bones, macrocephaly, cleft palate and hearing loss." "" + "dilated cardiomyopathy 3B" "Any dilated cardiomyopathy in which the cause of the disease is a mutation in the DMD gene." "" + "Duchenne and Becker muscular dystrophy" "Duchenne and Becker muscular dystrophies (DMD and BMD) are neuromuscular diseases characterized by progressive muscle wasting and weakness due to degeneration of skeletal, smooth and cardiac muscle." "" + "radial ray deficiency, X-linked" "" + "intellectual disability, X-linked 63" "Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the ACSL4 gene." "" + "polymicrogyria, bilateral perisylvian, X-linked" "" + "bilateral perisylvian polymicrogyria" "" + "T-B+ severe combined immunodeficiency due to gamma chain deficiency" "Severe combined immunodeficiency (SCID) due to gamma chain deficiency, also called SCID-X1, is a form of SCID characterized by severe and recurrent infections, associated with diarrhea and failure to thrive." "" + "T-B+ severe combined immunodeficiency" "T-B+ severe combined immunodeficiency (SCID) is a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes with presence of B lymphocytes, resulting in early-onset severe respiratory viral, bacterial or fungal infections, diarrhea and failure to thrive." "" + "FG syndrome 3" "" + "intellectual disability, X-linked, with or without seizures, arx-related" "" + "FG syndrome 4" "Any FG syndrome in which the cause of the disease is a mutation in the CASK gene." "" + "syndromic X-linked intellectual disability Hedera type" "X-linked intellectual disability, Hedera type is a rare X-linked intellectual disability syndrome characterized by an onset in infancy of delayed motor and speech milestones, generalized tonic-clonic seizures and drop attacks, and mild to moderate intellectual disability. Additional, less common manifestations include scoliosis, ataxia (resulting in progressive gait disturbance), and bilateral pes planovalgus. Physical appearance is normal with no dysmorphic features reported." "" + "ATP6AP2-related disorder" "Variants in the gene ATP6AP2 have been associated with a multitude of diseases, including X-linked syndromic ID Hedera type, X-linked parkinsonism-spasticity syndrome, and congenital disorder of glycosylation type 2R. Phenotypes include global developmental delay, intellectual disability, progressive neurologic decline, spasticity, seizures, infantile onset of liver failure, recurrent infections, dysmorphic features, and features of parkinsonism (rigidity, resting tremor, bradykinesia). These phenotypes do not appear in all individuals with one of the above disease assertions, but many are overlapping phenotypes." "" + "retinitis pigmentosa 23" "Any retinitis pigmentosa in which the cause of the disease is a mutation in the OFD1 gene." "" + "autism, susceptibility to, X-linked 1" "" + "autism, susceptiblity to" "" + "intellectual disability, X-linked 2" "" + "Atkin-Flaitz syndrome" "Atkin-Flaitz syndrome is characterised by moderate to severe intellectual deficit, short stature, macrocephaly, and characteristic facies. It has been described in 11 males and three females from three successive generations of the same family. The males also presented with postpubertal macroorchidism. Transmission is X-linked." "" + "intellectual disability, X-linked 81" "" + "X-linked intellectual disability, Stocco dos Santos type" "" + "intellectual disability, X-linked 46" "Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the ARHGEF6 gene." "" + "HSD10 mitochondrial disease" "HSD10 disease is a rare, life-threatening neurometabolic disease characterized by a progressive neurodegenerative course, epilepsy, retinopathy and progressive cardiomyopathy." "" + "syndromic neurometabolic disease with X-linked intellectual disability" "True" + "alpha-thalassemia-myelodysplastic syndrome" "Alpha-thalassemia-myelodysplastic syndrome (ATMDS) is an acquired form of alpha-thalassemia characterized by a myelodysplastic syndrome (MDS) or more rarely a myeloproliferative disease (MPD) associated with hemoglobin H disease (HbH)." "" + "intellectual disability, X-linked 77" "" + "obsolete primary ciliary dyskinesia-retinitis pigmentosa syndrome" "Primary ciliary dyskinesia - retinitis pigmentosa is an X-linked ciliary dysfunction of both respiratory epithelium and photoreceptors of the retina leading to ocular disorders (mild night blindness, constriction of the visual field, and scotopic and photopic ERG responses reduced to 30-60%) associated with primary ciliary dyskinesia manifestations (chronic bronchorrhea with bronchoectasis and chronic sinusitis) and sensorineural hearing loss." "" "true" + "coronary heart disease, susceptibility to, 3" "" + "X-linked intellectual disability-cubitus valgus-dysmorphism syndrome" "An X-linked syndromic intellectual disability characterised by moderate intellectual deficit, marked cubitus valgus, mild microcephaly, a short philtrum, deep-set eyes, downslanting palpebral fissures and multiple nevi. Less than ten individuals have been described so far. Transmission is thought to be X-linked recessive." "" + "corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome" "Agenesis of the corpus callosum - intellectual deficit - coloboma - micrognathia syndrome is a developmental anomalies syndrome characterized by coloboma of the iris and optic nerve, facial dysmorphism (high forehead, microretrognathia, low-set ears), intellectual deficit, agenesis of the corpus callosum (ACC), sensorineural hearing loss, skeletal anomalies and short stature." "" + "severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome" "Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome is a rare genetic neurological disorder characterized by intrauterine growth retardation, failure to thrive, infantile onset of sensorineural deafness, severe global developmental delay or absent psychomotor development, paraplegia or quadriplegia with dystonia and pyramidal signs, microcephaly, ocular abnormalities (strabismus, optic atrophy), mildly dysmorphic features (deep-set eyes, prominent nasal bridge, micrognathia), seizures and abnormalities of brain morphology (hypomyelinating white matter changes, cerebral atrophy)." "" + "X-linked cone-rod dystrophy 3" "" + "orofaciodigital syndrome VIII" "Oral-facial-digital syndrome, type 8 is characterized by tongue lobulation, hypoplasia of the epiglottis, median cleft upper lip, broad or bifid nasal tip, hypertelorism or telecanthus, bilateral preaxial and postaxial polydactyly, abnormal tibiae and/or radii, duplication of the halluces, short stature, and mild intellectual deficit." "" + "X-linked intellectual disability-cerebellar hypoplasia syndrome" "X-linked intellectual deficit-cerebellar hypoplasia, also known as OPHN1 syndrome, is a rare syndromic form of cerebellar dysgenesis characterized by moderate to severe intellectual deficit and cerebellar abnormalities." "" + "X-linked distal spinal muscular atrophy type 3" "X-linked distal spinal muscular atrophy type 3 is a rare distal hereditary motor neuropathy characterized by slowly progressive atrophy and weakness of distal muscles of hands and feet with normal deep tendon reflexes or absent ankle reflexes and minimal or no sensory loss, sometimes mild proximal weakness in the legs and feet and hand deformities in males." "" + "X-linked distal hereditary motor neuropathy" "X-linked form of distal hereditary motor neuropathy." "" + "X-linked epilepsy-learning disabilities-behavior disorders syndrome" "X-linked epilepsy-learning disabilities-behavior disorders syndrome is characterized by epilepsy, learning difficulties, macrocephaly, and aggressive behaviour. It has been described in males from a four-generation kindred. It is transmitted as an X-linked recessive trait and is likely to be caused by mutations in the gene encoding synapsin I (Xp11.3-q12)." "" + "Asperger syndrome, X-linked, susceptibility to, 1" "" + "autism, susceptibility to, X-linked 2" "A class of genetic disorders resulting in intellectual disability that is associated either with mutations of genes located on the X chromosome or aberrations in the structure of the X chromosome (sex chromosome aberrations)." "" + "autism, susceptibility to, X-linked 3" "" + "Asperger syndrome, X-linked, susceptibility to, 2" "" + "intellectual disability, X-linked 45" "Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the ZNF81 gene." "" + "obsolete ocular albinism" "" "true" + "obsolete MRX52" "" "true" + "intellectual disability, X-linked 84" "" + "dyslexia, susceptibility to, 9" "" + "ovarian dysgenesis 2" "Any primary ovarian failure in which the cause of the disease is a mutation in the BMP15 gene." "" + "premature ovarian failure 2A" "Any primary ovarian failure in which the cause of the disease is a mutation in the DIAPH2 gene." "" + "Fanconi anemia complementation group B" "Fanconi anemia caused by mutations of the FANCB gene. This gene encodes the protein for complementation group B." "" + "intellectual disability, X-linked 82" "" + "deafness-intellectual disability, Martin-Probst type syndrome" "Deafness-intellectual disability syndrome, Martin-Probst type is characterised by severe bilateral deafness, intellectual deficit, umbilical hernia and abnormal dermatoglyphics. It has been described in three males from three generations of one family. Mild facial dysmorphism (telangiectasias, hypertelorism, dental anomalies and a wide nasal root) was also present. Short stature, pancytopaenia, microcephaly, and renal and genitourinary anomalies were present in some of the patients. The mode of transmission is X-linked recessive and the causative gene has been localised to the q1-21 region of the X chromosome." "" + "Allan-Herndon-Dudley syndrome" "Allan-Herndon-Dudley syndrome (AHDS) is an X-linked intellectual disability syndrome with neuromuscular involvement characterized by infantile hypotonia, muscular hypoplasia, spastic paraparesis with dystonic/athetoic movements, and severe cognitive deficiency." "" + "complex hereditary spastic paraplegia" "A hereditary spastic paraplegia that is part of a larger syndrome." "" + "peripheral hypothyroidism" "Peripheral hypothyroidism is a type of permanent congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth, that results from peripheral defects in thyroid hormone metabolism." "" + "syndromic X-linked intellectual disability Claes-Jensen type" "" + "nephrogenic syndrome of inappropriate antidiuresis" "Nephrogenic syndrome of inappropriate antidiuresis (NSIAD) is a rare genetic disorder of water balance, closely resembling the far more frequent syndrome of inappropriate antidiuretic secretion (SIAD), and characterized by euvolemic hypotonic hyponatremia due to impaired free water excretion and undetectable or low plasma arginine vasopressin (AVP) levels." "" + "obsolete MRX78" "" "true" + "hypophosphatemic rickets, X-linked recessive" "Any X-linked hypophosphatemic rickets in which the cause of the disease is a mutation in the CLCN5 gene." "" + "X-linked hypophosphatemic rickets" "" + "Dent disease type 2" "Dent disease type 2 is a type of Dent disease in which patients have the manifestations of Dent disease type 1 associated with extra-renal features." "" + "parkinson disease 12" "" + "intellectual disability, X-linked 30" "Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the PAK3 gene." "" + "glycogen storage disease IXd" "A benign form of phosphorylase kinase deficiency caused by variants in PHKA1, characterized by exercise intolerance, myalgia, muscle cramps, myoglobinuria, and progressive muscle weakness." "" + "intellectual disability, X-linked 91" "Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the ZDHHC15 gene." "" + "X-linked intellectual disability-retinitis pigmentosa syndrome" "X-linked intellectual disability-retinitis pigmentosa syndrome is characterized by moderate intellectual deficit and severe, early-onset retinitis pigmentosa. It has been described in five males spanning three generations of one family. Some patients also had microcephaly. It is transmitted as an X-linked recessive trait." "" + "partial monosomy of the short arm of chromosome X" "" + "myopathy, congenital, with fiber-type disproportion, X-linked" "" + "FG syndrome 5" "" + "SHOX-related short stature" "SHOX-related short stature is a primary bone dysplasia characterized by a height that is 2 standard deviations below the corresponding mean height for a given age, sex and population group, in the absence of obvious skeletal abnormalities and other diseases and with normal developmental milestones. Patients present normal bone age with normal limbs, shortening of the extremities (significantly lower extremities-trunk and sitting height-to-height ratios), normal hGH values, normal karyotype, and Leri-Weill dyschondrosteosis-like radiological signs (e.g. triangularization of distal radial epiphyses, pyramidalization of distal carpal row, and lucency of the distal radius on the ulnar side). Mesomelic disproportions and Madelung deformity are not apparent at a young age, but may develop later in life or never." "" + "immunodeficiency without anhidrotic ectodermal dysplasia" "" + "nystagmus 5, congenital, X-linked" "" + "Cornelia de Lange syndrome 2" "An X-linked inherited form of Cornelia De Lange syndrome caused by mutations in the SMC1A gene mapped to chromosome Xp11.22. Patients have a milder form of the syndrome compared to patients with the NIPBL gene mutation." "" + "Aland island eye disease" "An X-linked recessive retinal disease characterized by fundus hypopigmentation, decrased visual acuity, nystagmus, astigmatism, progressive axial myopia, defective dark adaptation and protanopia." "" + "obsolete Clark-Baraitser syndrome" "" "true" + "premature ovarian failure 2B" "Any primary ovarian failure in which the cause of the disease is a mutation in the POF1B gene." "" + "retinitis pigmentosa 34" "A retinitis pigmentosa that has material basis in variation in the chromosome region Xq28." "" + "developmental and epileptic encephalopathy, 8" "" + "obsolete Brooks-Wisniewski-brown syndrome" "" "true" + "myopia 13, X-linked" "" + "X-linked hereditary sensory and autonomic neuropathy with hearing loss" "This syndrome is characterized by the association of an axonal sensory and autonomic neuropathy with hearing loss." "" + "auditory neuropathy" "A hearing disorder characterized by impaired transmission of signals through the auditory nerve, resulting in mild to severe hearing loss and poor speech perception." "" + "Brunner syndrome" "Monoamine oxidase-A deficiency is a very rare recessive X-linked biogenic amine metabolism disorder characterized clinically by mild intellectual deficit, impulsive aggressiveness, and sometimes violent behavior and presenting from childhood." "" + "inborn disorder of neurotransmitter metabolism and transport" "" + "cataract, ataxia, short stature, and intellectual disability" "" + "Tn polyagglutination syndrome" "" + "fragile X-associated tremor/ataxia syndrome" "Fragile X-associated tremor/ataxia syndrome (FXTAS) is a rare neurodegenerative disorder characterized by adult-onset progressive intention tremor and gait ataxia." "" + "fragile X syndrome" "A genetic syndrome caused by mutations in the FMR1 gene which is responsible for the expression of the fragile X mental retardation 1 protein. This protein participates in neural development. This syndrome is manifested with mental, emotional, behavioral, physical, and learning disabilities." "" + "hypospadias 1, X-linked" "" + "X-linked lymphoproliferative disease due to XIAP deficiency" "A condition of decreased or absent presence of baculoviral IAP repeat-containing protein 4. Deficiency of this protein is associated with X-linked lymphoproliferative syndrome 2." "" + "X-linked lymphoproliferative syndrome" "X-linked lymphoproliferative disease is a hereditary immunodeficiency characterized, in the majority of cases, by an inadequate immune response to infection with the Epstein-Barr virus (EBV)." "" + "immunodeficiency 33" "Any immunodeficiency disease in which the cause of the disease is a mutation in the IKBKG gene." "" + "X-linked mendelian susceptibility to mycobacterial diseases" "X-linked (XR) Mendelian susceptibility to mycobacterial diseases (MSMD) describes a rare group of immunodeficiencies due to specific mutations in the inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma (IKBKG) or the cytochrome b-245, beta polypeptide (CYBB) genes. They are characterized by mycobacterial infections, occuring in males." "" + "obsolete invasive pneumococcal disease, recurrent isolated, 2" "" "true" + "rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked" "" + "rolandic epilepsy-speech dyspraxia syndrome" "Rolandic epilepsy-speech dyspraxia syndrome is a rare, genetic epilepsy characterized by speech disorder (including a range of symptoms from dysarthria, speech dyspraxia, receptive and expressive language delay/regression and acquired aphasia to subtle impairments of conversational speech) and epilepsy (mostly focal and secondary generalized childhood-onset seizures, sometimes with aura). Mild to severe intellectual disability may also be observed." "" + "X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency" "Any X-linked mendelian susceptibility to mycobacterial diseases in which the cause of the disease is a mutation in the CYBB gene." "" + "ocular albinism with late-onset sensorineural deafness" "Ocular albinism with late-onset sensorineural deafness (OASD), is a rare, X-linked inherited type of ocular albinism described in one African kindred (7 males over 3 generations) to date, characterized by severe visual impairment, translucent pale-blue iridies, a reduction in the retinal pigment and moderately severe deafness by middle age (fourth to fifth decade of life). It is unclear whether it is allelic to X-linked recessive ocular albinism or a contiguous gene syndrome." "" + "ocular albinism" "Albinism affecting the eye in which pigment of the hair and skin is normal or only slightly diluted. The classic type is X-linked (Nettleship-Falls), but an autosomal recessive form also exists. Ocular abnormalities may include reduced pigmentation of the iris, nystagmus, photophobia, strabismus, and decreased visual acuity." "" + "angioma serpiginosum, X-linked" "" + "glycogen storage disease due to phosphoglycerate kinase 1 deficiency" "Phosphoglycerate kinase (PGK) deficiency is a metabolic disorder characterized by variable combinations of nonspherocytic hemolytic anemia, myopathy, and various central nervous system abnormalities." "" + "intellectual disability, X-linked 93" "Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the BRWD3 gene." "" + "obsolete leukoencephalopathy-metaphyseal chondrodysplasia syndrome" "" "true" + "phosphoribosylpyrophosphate synthetase superactivity" "Phosphoribosylpyrophosphate (PRPP) synthetase superactivity is an X-linked disorder of purine metabolism associated with hyperuricemia and hyperuricosuria, comprised of two forms: an early-onset severe form characterized by gout, urolithiasis, and neurodevelopmental anomalies (severe PRPP synthetase superactivity) and a mild late-onset form with no neurologic involvement (mild PRPP synthetase superactivity)." "" + "developmental and epileptic encephalopathy, 2" "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the CDKL5 gene." "" + "atypical Rett syndrome" "Atypical Rett syndrome (atypical RTT) is a neurodevelopmental disorder that is diagnosed when a child presents with a Rett-like syndrome but does not fulfill all the diagnostic criteria for typical Rett syndrome (classic/typical RTT)." "" + "West syndrome" "West syndrome (or infantile spasms) is characterised by the association of clusters of axial spasms, psychomotor retardation and an hypsarrhythmic interictal EEG pattern. It is the most frequent type of epileptic encephalopathy. It may occur in otherwise healthy infants and in those with abnormal cognitive development." "" + "CDKL5 disorder" "A monogenic disease that has material basis in mutation in the CDKL5 gene." "" + "severe neonatal-onset encephalopathy with microcephaly" "An X-linked recessive condition caused by mutation(s) in the MECP2 gene, encoding methyl-CpG-binding protein 2. It is characterized by severe neonatal encephalopathy." "" + "neonatal epilepsy syndrome" "" + "syndromic X-linked intellectual disability 14" "Any X-linked syndromic intellectual disability in which the cause of the disease is a mutation in the UPF3B gene." "" + "chromosome Xp21 deletion syndrome" "" + "inborn glycerol kinase deficiency" "An acquired metabolic disease that is has its basis in the disruption of glycerol kinase activity." "" + "X-linked scapuloperoneal muscular dystrophy" "X-linked scapuloperoneal muscular dystrophy (X-linked SPMD) is a skeletal muscle disease characterized by late onset, co-occurrence of scapular and peroneal muscle weakness, and scapular winging." "" + "X-linked myopathy with postural muscle atrophy" "X-linked myopathy with postural muscle atrophy is a rare progressive muscular dystrophy characterized by an adult-onset scapulo-axio-peroneal myopathy. Clinical presentation includes shoulder girdle atrophy, scapular winging, axial muscular atrophy of postural muscles combined with a generalized hypertrophy. Typically, neck rigidity, rigid spine, Achilles tendon shortening, and respiratory insufficiency later in disease course are present." "" + "syndromic X-linked intellectual disability 94" "A syndromic X-linked intellectual disability characterized by moderate intellectual disability with variable occurrence of asthenic body habitus, dysmorphic features, autistic features, macrocephaly, seizures, myoclonic jerks, and hyporeflexia that has material basis in mutation in the GRIA3 gene on chromosome Xq25." "" + "X-linked intellectual disability due to GRIA3 anomalies" "" + "albinism-hearing loss syndrome" "A syndromic genetic hearing loss is characterised by congenital nerve deafness and piebaldness with no ocular albinism. It has been described in one large pedigree. Transmission is X-linked with affected males presenting with profound sensorineural deafness and severe pigmentary abnormalities of the skin, and carrier females presenting with variable hearing impairment without any pigmentary changes. The causative gene has been mapped to Xq26.3-q27.1." "" + "X-linked non progressive cerebellar ataxia" "X-linked non progressive cerebellar ataxia is a rare hereditary ataxia characterized by delayed early motor development, severe neonatal hypotonia, non-progressive ataxia and slow eye movements, presenting normal cognitive abilities and absence of pyramidal signs. Frequently patients also manifest intention tremor, mild dysphagia, and dysarthria. Brain MRI reveals global cerebellar atrophy with absence of other malformations or degenerations of the central and peripheral nervous systems." "" + "prostate cancer, hereditary, X-linked 2" "" + "chromosome Xp11.22 duplication syndrome" "" + "intellectual disability, X-linked syndromic, Turner type" "An X-linked syndromic intellectual disability characterised by moderate to severe intellectual deficit in boys and moderate intellectual deficit in girls. It has been described in 14 members from four generations of one family. Macrocephaly was reported and holoprosencephaly may also be present (two family members). The mode of transmission is X-linked semi-dominant." "" + "syndactyly-telecanthus-anogenital and renal malformations syndrome" "This syndrome is characterised by the association of toe syndactyly, facial dysmorphism including telecanthus (abnormal distance between the eyes) and a broad nasal tip, urogenital malformations and anal atresia." "" + "syndromic X-linked intellectual disability Shrimpton type" "X-linked intellectual disability, Shrimpton type is characterised by the association of severe intellectual deficit with microcephaly, strabismus and short stature. It has been described in three boys from two unrelated families. Transmission is X-linked recessive and the causative gene has been localised to the q12-Xq21.31 region of the X-chromosome." "" + "alopecia, androgenetic, 2" "" + "pyloric stenosis, infantile hypertrophic, 4" "" + "X-linked intellectual disability-craniofacioskeletal syndrome" "X-linked intellectual disability-craniofacioskeletal syndrome is a rare, hereditary, syndromic intellectual disability characterized by craniofacial and skeletal abnormalities in association with mild intellectual disability in females and early postnatal lethality in males. In addition to mild cognitive impairment, females present with microcephaly, short stature, skeletal features and extra temporal lobe gyrus. In males, intrauterine growth impairment, cardiac and urogenital anomalies have been reported." "" + "intellectual disability, X-linked 95" "" + "myopathy, reducing body, X-linked, early-onset, severe" "" + "reducing body myopathy" "Reducing body myopathy (RBM) is a rare muscle disorder marked by progressive muscle weakness and the presence of characteristic inclusion bodies in affected muscle fibres." "" + "myopathy, reducing body, X-linked, childhood-onset" "" + "deafness, cataract, retinitis pigmentosa, and sperm abnormalities" "" + "syndromic X-linked intellectual disability Najm type" "Najm type X-linked intellectual deficit is a rare cerebellar dysgenesis syndrome characterized by variable clinical manifestations ranging from mild intellectual deficit with or without congenital nystagmus, to severe cognitive impairment associated with cerebellar and pontine hypoplasia/atrophy and abnormalities of cortical development." "" + "hereditary spastic paraplegia 34" "X-linked spastic paraplegia type 34 is a pure form of hereditary spastic paraplegia characterized by late childhood- to early adulthood-onset of slowly progressive spastic paraplegia with spastic gait and lower limb hyperreflexia, brisk tendon reflexes and ankle clonus. Lower limb pain and reduced lower limb vibratory sense is also reported in some older adult patients." "" + "X-linked pure spastic paraplegia" "" + "obsolete X-linked sideroblastic anemia" "" "true" + "X-linked erythropoietic protoporphyria" "X-linked form of erythropoietic protoporphyria." "" + "Bruton-type agammaglobulinemia" "X-linked agammaglobulinemia (XLA) is a clinically variable form of isolated agammaglobulinemia, an inherited immunodeficiency disorder, and is characterized in affected males by recurrent bacterial infections during infancy." "" + "isolated agammaglobulinemia" "Isolated agammaglobulinemia (IA) is the non-syndromic form of agammaglobulinemia, a primary immunodeficiency disease, and is characterized by deficient gamma globulins and associated predisposition to frequent and recurrent infections from infancy." "" + "Alzheimer disease 16" "An Alzheimer's disease that is characterized by an associated with a risk allele in in the PCDH11X gene on chromosome Xq21.3." "" + "hypospadias 2, X-linked" "" + "surfactant metabolism dysfunction, pulmonary, 4" "" + "Lisch epithelial corneal dystrophy" "Lisch epithelial corneal dystrophy (LECD) is a very rare form of superficial corneal dystrophy characterized by feather-shaped opacities and microcysts in the corneal epithelium arranged in a band-shaped and sometimes whorled pattern, occasionally with impaired vision." "" + "X-linked endothelial corneal dystrophy" "X-linked endothelial corneal dystrophy (XECD) is a rare subtype of posterior corneal dystrophy characterized by congenital ground glass corneal clouding or a diffuse corneal haze, and blurred vision in male patients." "" + "syndromic X-linked intellectual disability Raymond type" "A syndromic X-linked intellectual disability characterized by intellectual disability and marfanoid habitus that has material basis in mutation in the ZDHHC9 gene on chromosome Xq26.1." "" + "chromosome Xp11.23-p11.22 duplication syndrome" "A form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures." "" + "partial duplication of the short arm of chromosome X" "" + "intellectual disability, X-linked 96" "Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the SYP gene." "" + "intellectual disability, X-linked 97" "Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the ZNF711 gene." "" + "Joubert syndrome 10" "Any Joubert syndrome in which the cause of the disease is a mutation in the OFD1 gene." "" + "thrombophilia, X-linked, due to factor 9 defect" "A hemostatic disorder characterized by a tendency to thrombosis that has X-linked recessive inheritance, and can be caused by a gain-of-function mutation in the gene encoding factor IX (F9)." "" + "systemic lupus erythematosus, susceptibility to, 15" "" + "nystagmus 6, congenital, X-linked" "" + "chromosome Xq28 duplication syndrome" "" + "severe X-linked mitochondrial encephalomyopathy" "Severe X-linked mitochondrial encephalomyopathy is an extremely rare mitochondrial respiratory chain disease resulting in a neurodegenerative disorder characterized by psychomotor delay, hypotonia, areflexia, muscle weakness and wasting in the two patients reported to date." "" + "paroxysmal nocturnal hemoglobinuria 1" "Any paroxysmal nocturnal hemoglobinuria in which the cause of the disease is a mutation in the PIGA gene." "" + "inherited paroxysmal nocturnal hemoglobinuria" "An instance of paroxysmal nocturnal hemoglobinuria that is inherited." "True" + "cardiomyopathy, fatal fetal, due to myocardial calcification" "" + "autism, susceptibility to, X-linked 4" "" + "CK syndrome" "" + "46,XX sex reversal 3" "" + "macular degeneration, X-linked atrophic" "" + "X-linked dyserythropoetic anemia with abnormal platelets and neutropenia" "" + "GATA1-Related X-Linked Cytopenia" "X-Linked cytopenia characterized by anemia and/or thrombocytopenia. Additional features including platelet dysfunction, dyserythropoesis, mild beta-thalassemia, neutropenia, or congenital erythropoetic porphyria may be present. These GATA1 variants are germline as opposed to GATA1 variants seen in leukemia." "" + "obsolete McLeod syndrome" "" "true" + "X-linked cone dysfunction syndrome with myopia" "X-linked cone dysfunction syndrome with myopia is characterised by moderate to high myopia associated with astigmatism and deuteranopia. Less than 10 families have been described so far. Transmission is X-linked recessive and the locus has been mapped to Xq28." "" + "intellectual disability, X-linked 19" "Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the RPS6KA3 gene." "" + "moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome" "Moyamoya angiopathy - short stature - facial dysmorphism - hypergonadotropic hypogonadism is a very rare, hereditary, neurological, dysmorphic syndrome characterized by moyamoya disease, short stature of postnatal onset, and stereotyped facial dysmorphism." "" + "autism, susceptibility to, X-linked 5" "" + "intellectual disability, X-linked 89" "" + "intellectual disability, X-linked 41" "Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the GDI1 gene." "" + "intellectual disability, X-linked 90" "Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the DLG3 gene." "" + "intellectual disability, X-linked 92" "" + "intellectual disability, XMEN-linked 88" "" + "X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia" "X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia is a rare combined T and B cell immunodeficiency characterized by recurrent sinopulmonary and viral infections, persistent elevated Epstein-Barr virus (EBV) viremia and increased susceptibility to EBV-associated B-cell lymphoproliferative disorders. Immunological analyses show normal lymphocyte count or mild to moderate lymphopenia, inverted CD4:CD8 T-cell ratio and hypogammaglobulinemias." "" + "renal cell carcinoma, Xp11-associated" "" + "MIT family translocation renal cell carcinoma" "MiT family translocation renal cell carcinoma (t-RCC) is a rare subtype of renal cell carcinoma with recurrent genetic abnormalities, harboring rearrangements of the TFE3 (Xp11 t-RCC) or TFEB [t(6;11) t-RCC] genes. The t(6;11) t-RCC has distinctive histologic features of biphasic appearance with larger epitheloid and smaller eosinophilic cells. The symptoms are usually non-specific and include hematuria, flank pain, palpable abdominal mass and/or systemic symptoms of anemia, fatigue and fever." "" + "Ogden syndrome" "Ogden syndrome is a rare, genetic progeroid syndrome characterized by a variable phenotype including postnatal growth delay, severe global developmental delay, hypotonia, non-specific dysmorphic facies with aged appearance and cryptorchidism, as well as cardiac arrthymias and skeletal anomalies. Patients typically present with widely opened fontanels, mainly truncal hypotonia, a waddling gait with hypertonia of the extremities, small hands and feet, broad great toes, scoliosis and redundant skin with lack of subcutaneous fat." "" + "NAA10-related syndrome" "NAA10-related syndrome is an X-linked syndromic intellectual disability in which the cause of the disease is a mutation in the NAA10 gene. Patients with variants in the NAA10 gene demonstrate symptoms such as developmental delay, intellectual disability, autism spectrum disorder, hypotonia, facial dysmorphism, cardiac anomalies, and/or skeletal anomalies." "" + "hypospadias 4, X-linked" "" + "amyotrophic lateral sclerosis type 15" "Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the UBQLN2 gene." "" + "syndromic X-linked intellectual disability 17" "Intellectual disability-alacrima-achalasia syndrome is a rare, genetic intellectual disability syndrome characterized by delayed motor and cognitive development, absence or severe delay in speech development, intellectual disability, and alacrima. Achalasia/dysphagia and mild autonomic dysfunction (i.e. anisocoria) have also been reported in some patients. The phenotype is similar to the one observed in autosomal recessive Triple A syndrome, but differs by the presence of intellectual disability in all affected individuals." "" + "syndromic X-linked intellectual disability Nascimento type" "X-linked intellectual disability, Nascimento type is a rare X-linked intellectual disability syndrome characterized by intellectual disability (with severe speech impairment), a myxedematous appearance, dysmorphic facial features (including large head, synophrys, prominent supraorbital ridges, almond-shaped and deep-set eyes, large ears, wide mouth with everted lower lip and downturned lip corners), low posterior hairline, short, broad neck, marked general hirsutism and abnormal hair whorls, skin changes (e.g. dry skin or hypopigmented spots), widely spaced nipples, obesity, micropenis, onychodystrophy and seizures." "" + "syndromic X-linked intellectual disability Chudley-Schwartz type" "A syndromic X-linked intellectual disability characterized by moderate intellectual disability, seizures, dysmorphic facial features and in some older patients slowly progressive unsteady gait and progressive weakness that has material basis in variation in the chromosomal region Xq21.33-q23." "" + "X-linked dominant chondrodysplasia, Chassaing-Lacombe type" "X-linked dominant chondrodysplasia Chassaing-Lacombe type is a rare genetic bone disorder characterized by chondrodysplasia, intrauterine growth retardation (IUGR), hydrocephaly and facial dysmorphism in the affected males." "" + "X-linked cerebral-cerebellar-coloboma syndrome syndrome" "X-linked cerebral-cerebellar-coloboma syndrome is a rare, genetic syndrome with a cerebellar malformation as major feature characterized by cerebellar vermis hypo- or aplasia, ventriculomegaly, agenesis of corpus callosum and abnormalities of the brainstem and cerebral cortex in association with ocular coloboma. Clinically, patients show hydrocephalus at birth, neonatal hypotonia with abnormal breathing pattern, ocular abnormalities with impaired vision, severe psychomotor delay, and seizures." "" + "Kabuki syndrome 2" "" + "multiple congenital anomalies-hypotonia-seizures syndrome 2" "Any multiple congenital anomalies/dysmorphic syndrome-intellectual disability in which the cause of the disease is a mutation in the PIGA gene." "" + "multiple congenital anomalies-hypotonia-seizures syndrome" "" + "Xq27.3q28 duplication syndrome" "Xq27.3q28 duplication syndrome is a recently described syndrome characterized by short stature, hypogonadism, developmental delay and facial dysmorphism." "" + "aneurysm, intracranial berry, 5" "" + "epsilon-trimethyllysine hydroxylase deficiency" "" + "obsolete Baratela-Scott syndrome" "" "true" + "Cornelia de Lange syndrome 5" "" + "developmental and epileptic encephalopathy, 36" "" + "X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome" "A syndromic X-linked intellectual disability characterized by intellectual disability, delayed psychomotor development, seizures, large joint contractures, cardiac abnormalities, and abnormal positioning of the thumbs that has material basis in mutation in the CLIC2 gene on chromosome Xq28." "" + "linear skin defects with multiple congenital anomalies 2" "Any microphthalmia with linear skin defects syndrome in which the cause of the disease is a mutation in the COX7B gene." "" + "linear skin defects with multiple congenital anomalies" "A genetic condition that affects the eyes and skin. It is mainly found in females and is characterized by small or poorly developed eyes (microphthalmia) and characteristic linear skin markings on the head and neck. The signs and symptoms of this condition may include abnormalities of the brain, heart, and genitourinary system. Other symptoms may include short stature, developmental delay, and finger and toenails that do not grow normally (nail dystrophy). MLS syndrome is typically caused by either a deletion of certain genetic material on the p (short) arm of the X chromosome or by a mutation in the HCCS gene. In some cases, it may be caused by mutations in the COX7B and NDUFB11 genes, (also located on the X chromosome). According to the mutated gene, the disease may be classified in three subtypes. This condition is inherited in an X-linked manner and is thought to result in serious early developmental concerns in males, leading to almost no males with this condition surviving to delivery.Although there is no specific treatment or cure for MLS syndrome, there may be ways to manage the symptoms. A team of doctors is often needed to figure out the treatment options based on each person's symptoms." "" + "X-linked central congenital hypothyroidism with late-onset testicular enlargement" "An X-linked recessive syndrome caused by loss-of-function mutation(s) in IGSF1, encoding immunoglobulin superfamily member 1. This condition can result in central hypothyroidism, macroorchidism, delayed puberty, and variable prolactin deficiency." "" + "neurodegeneration with brain iron accumulation 5" "Beta-propeller protein-associated neurodegeneration (BPAN), also known as static encephalopathy of childhood with neurodegeneration in adulthood, is a rare form of neurodegeneration with brain iron accumulation (NBIA) characterized by early-onset developmental delay and further neurological deterioration in early adulthood." "" + "blepharophimosis - intellectual disability syndrome, MKB type" "The Maat-Kievit-Brunner type of Ohdo syndrome is a rare condition characterized by intellectual disability and distinctive facial features. It has only been reported in males." "" + "MED12-related intellectual disability syndrome" "An X-linked syndromic intellectual disability that that includes subtypes of the heterogeneous, eponymously named Lujan-Fryns syndrome, X-linked Ohdo syndrome, and Optiz-Kaveggia/ FG syndrome, which is caused by mutations in the gene MED12. The common and most penetrant phenotype shared amongst these disease entities is intellectual disability, with dysgenesis or agenesis of the corpus callosum, blepharophimosis, and marfanoid habitus having variable phenotypic expressivity." "" + "SLC35A2-CDG" "SLC35A2-CDG is a congenital disorder of glycosylation characterized by severe or profound global developmental delay, early epileptic encephalopathy, muscular hypotonia, dysmorphic features (coarse facies, thick eyebrows, broad nasal bridge, thick lips, inverted nipples), variable ocular defects and brain morphological abnormalities on brain MRI (cerebral atrophy, thin corpus callosum)." "" + "Charcot-Marie-Tooth disease X-linked dominant 6" "X-linked Charcot-Marie-Tooth disease type 6 is a rare, genetic, principally axonal, peripheral sensorimotor neuropathy characterized by an X-linked dominant inheritance pattern and the childhood-onset of slowly progressive, moderate to severe, distal muscle weakness and atrophy of the lower extremities, as well as distal, panmodal sensory abnormalities, bilateral foot deformities (pes cavus, clawed toes), absent ankle reflexes and gait abnormalities (steppage gait). Females are usually asymptomatic or only present mild manifestations (mild postural hand tremor, mild wasting of hand intrinsic muscles)." "" + "Charcot-Marie-Tooth disease type X" "A subtype of Charcot-Marie-Tooth disease with genetic defects on the X chromosome." "" + "anemia, nonspherocytic hemolytic, due to G6PD deficiency" "" + "angioedema" "Swelling involving the deep dermis, subcutaneous, or submucosal tissues, representing localized edema. Angioedema often occurs in the face, lips, tongue, and larynx." "" + "X-linked parkinsonism-spasticity syndrome" "X-linked parkinsonism-spasticity syndrome is a rare genetic neurological disorder characterized by parkinsonian features (including resting or action tremor, cogwheel rigidity, hypomimia and bradykinesia) associated with variably penetrant spasticity, hyperactive deep tendon reflexes and Babinski sign." "" + "X-linked intellectual disability, Cantagrel type" "X-linked Mental retardation Cantagrel type is characterised by marked neonatal hypotonia, progressive quadriparesia, severely delayed developmental milestones (walking at 3 years of age), gastroesophageal reflux, stereotypic movements of the hands, esotropia and infantile autism." "" + "hearing loss, X-linked 6" "Any X-linked nonsyndromic deafness in which the cause of the disease is a mutation in the COL4A6 gene." "" + "X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome" "X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome is a rare syndromic microphthalmia disorder characterized by microphthalmia with coloboma (which may involve the iris, cilary body, choroid, retina and/or optic nerve), microcephaly, short stature and intellectual disability. Other eye abnormalities such as pendular nystagmus, esotropia and ptosis may also be present. Additional associated abnormalities include kyphoscoliosis, anteverted pinnae with minimal convolutions, diastema of the incisors and congenital pes varus." "" + "Olmsted syndrome, X-linked" "" + "Olmsted syndrome" "" + "intellectual disability, X-linked 99" "Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the USP9X gene." "" + "intellectual disability, X-linked 100" "Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the KIF4A gene." "" + "intellectual disability, X-linked 101" "Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the MID2 gene." "" + "SSR4-CDG" "(Xq28)." "" + "X-linked acrogigantism due to Xq26 microduplication" "" + "familial infantile gigantism" "" + "pituitary adenoma, growth hormone-secreting, 2" "Any pituitary gland adenoma in which the cause of the disease is a mutation in the GPR101 gene." "" + "acromegaly" "Acromegaly is an acquired disorder related to excessive production of growth hormone (GH) and characterized by progressive somatic disfigurement (mainly involving the face and extremities) and systemic manifestations." "" + "Diamond-Blackfan anemia 14 with mandibulofacial dysostosis" "Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the TSR2 gene." "" + "linear skin defects with multiple congenital anomalies 3" "Any microphthalmia with linear skin defects syndrome in which the cause of the disease is a mutation in the NDUFB11 gene." "" + "trichothiodystrophy 5, nonphotosensitive" "Any nonphotosensitive trichothiodystrophy in which the cause of the disease is a mutation in the RNF113A gene." "" + "X-linked intellectual disability-short stature-overweight syndrome" "X-linked intellectual disability-short stature-overweight syndrome is a multiple congenital anomalies syndrome characterized by borderline to severe intellectual disability, speech delay, short stature, elevated body mass index, a pattern of truncal obesity (reported in older males), and variable neurologic features (e.g. hypotonia, tremors, gait disturbances, behavioral problems, and seizure disorders). Less common manifestations include microcephaly, microorchidism and/or microphallus. Dysmorphic features have been reported in some patients but no consitent pattern has been noted." "" + "intellectual disability, X-linked 102" "An inherited condition caused by mutation(s) in the DDX3X gene, encoding ATP-dependent RNA helicase DDX3X. It is characterized by severe intellectual disability and variable neurologic features." "" + "MEND syndrome" "" + "Ritscher-Schinzel syndrome 2" "Any Ritscher-Schinzel syndrome in which the cause of the disease is a mutation in the CCDC22 gene." "" + "intellectual disability, X-linked, syndromic 33" "Any X-linked syndromic intellectual disability in which the cause of the disease is a mutation in the TAF1 gene." "" + "syndromic X-linked intellectual disability 34" "Macrocephaly-intellectual disability-left ventricular non compaction syndrome is a rare, genetic, syndromic intellectual disability characterized by motor and cognitive developmental delay with language impairment, macrocephaly, hypotonia, dysmorphic facial features (including long face, slanting palpebral fissures and prominent, flattened nose) and left ventricular noncompaction cardiomyopathy. Patients also present skeletal abnormalities (e.g. scoliosis, finger clinodactyly, pes planus), slender build and shy behavior. Strabismus and various neurological signs (including ataxia, tremor and hyperreflexia) may be associated, as well as epilepsy, autism and MRI findings showing a small cerebellum and abnormalities of the corpus callosum. A phenotypic variant with no cardiac involvement has been reported." "" + "intellectual disability, X-linked 99, syndromic, female-restricted" "Any X-linked syndromic intellectual disability in which the cause of the disease is a mutation in the USP9X gene." "" + "Bartter disease type 5" "Any Bartter syndrome in which the cause of the disease is a mutation in the MAGED2 gene." "" + "immunodeficiency 47" "Any primary immunodeficiency disease in which the cause of the disease is a mutation in the ATP6AP1 gene." "" + "intellectual disability-balding-patella luxation-acromicria syndrome" "Intellectual disability-balding-patella luxation-acromicria syndrome is characterised by severe intellectual deficit, patella luxations, acromicria, hypogonadism, facial dysmorphism (including midface hypoplasia and premature frontotemporal balding). It has been described in three unrelated males." "" + "intellectual disability, X-linked 61" "Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the RLIM gene." "" + "Xq25 microduplication syndrome" "" + "intellectual disability, X-linked 103" "Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the KLHL15 gene." "" + "intellectual disability, X-linked 104" "Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the FRMPD4 gene." "" + "intellectual disability, X-linked 105" "Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the USP27X gene." "" + "vas deferens, congenital bilateral aplasia of, X-linked" "" + "intellectual disability, X-linked, syndromic, bain type" "" + "obsolete intellectual disability, X-linked, syndromic, Borck type" "" "true" + "combined immunodeficiency due to moesin deficiency" "" + "Meester-Loeys syndrome" "" + "midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis" "" + "ciliary dyskinesia, primary, 36, X-linked" "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the PIH1D3 gene." "" + "Wiskott-Aldrich syndrome" "Wiskott-Aldrich syndrome (WAS) is a primary immunodeficiency disease characterized by microthrombocytopenia, eczema, infections and an increased risk for autoimmune manifestations and malignancies." "" + "alpha thalassemia-X-linked intellectual disability syndrome" "X-linked alpha thalassaemia mental retardation (ATR-X) syndrome in males is associated with profound developmental delay, facial dysmorphism, genital abnormalities and alpha thalassaemia. Female carriers are usually physically and intellectually normal." "" + "ATR-X-related syndrome" "" + "X-linked Alport syndrome" "X-linked form of Alport syndrome." "" + "amelogenesis imperfecta type 1E" "Any amelogenesis imperfecta in which the cause of the disease is a mutation in the AMELX gene." "" + "X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2" "An amelogenesis imperfecta associated with mutation in a gene in the Xq22-q28 region." "" + "X-linked reticulate pigmentary disorder" "X-linked reticulate pigmentary disorder is an extremely rare skin disease described in only four families to date and characterized in males by diffuse reticulate brown hyperpigmentated skin lesions developing in early childhood and a variety of systemic manifestations (recurrent pneumonia, corneal opacification, gastrointestinal inflammation, urethral stricture, failure to thrive, hypohidrosis, digital clubbing, and unruly hair and flared eyebrows), while in females, there is only cutaneous involvement with the development in early childhood of localized brown hyperpigmented skin lesions following the lines of Blaschko. This disease was first considered as a cutaneous amyloidosis, but amyloid deposits are an inconstant feature." "" + "X-linked sideroblastic anemia with ataxia" "A rare syndromic, inherited form of sideroblastic anemia in which the cause of the disease is a mutation in the ABCB7 gene and is characterized by mild to moderate anemia (with hypochromia and microcytosis) and early-onset, non- or slowly progressive spinocerebellar ataxia." "" + "unspecified inborn mitochondrial disorder" "" + "X-linked sideroblastic anemia 1" "" + "neural tube defects, X-linked" "" + "isolated spina bifida" "A spina bifida (disease) that is not part of a larger syndrome." "" + "Fabry disease" "Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." "" + "obsolete microphthalmia-ankyloblepharon-intellectual disability syndrome" "" "true" + "X-linked spinocerebellar ataxia type 3" "X-linked spinocerebellar ataxia type 3 is a form of spinocerebellar degeneration characterized by onset in infancy of hypotonia, ataxia, sensorineural deafness, developmental delay, esotropia, and optic atrophy, and by a progressive course leading to death in childhood. It has been described one family with at least six affected males from five different sibships (connected through carrier females). It is transmitted as an X-linked recessive trait." "" + "obsolete anus, imperforate" "" "true" + "contractures-ectodermal dysplasia-cleft lip/palate syndrome" "Contractures - ectodermal dysplasia - cleft lip/palate is an ectodermal dyplasia syndrome characterized by severe arthrogryposis, multiple ectodermal dysplasia features, cleft lip/palate, facial dysmorphism, growth deficiency and a moderate delay of psychomotor development. Ectodermal dysplasia manifestations include sparse, brittle and hypopigmented hair, xerosis, multiple nevi, small conical shaped teeth and hypodontia, and facial dysmorphism with blepharophimosis, deep-set eyes and micrognathia." "" + "infantile-onset X-linked spinal muscular atrophy" "A rare form of spinal muscular atrophy characterized by the neonatal onset of severe hypotonia, areflexia, profound weakness, multiple congenital contractures, facial dysmorphic features (myopathic face with open, tent-shaped mouth), cryptorchidism, and mild skeletal abnormalities (i.e. kyphosis, scoliosis), that is often preceded by polyhydramnios and reduced fetal movements in utero and followed by bone fractures shortly after birth. SMAX2 patients often have a limited life span, often succumbing to the disease within 2 years, as muscle weakness is progressive and chest muscle involvement eventually leads to ventilatory insufficiency and respiratory failure." "" + "Arts syndrome" "Lethal ataxia with deafness and optic atrophy (also known as Arts syndrome) is characterized by intellectual deficit, early-onset hypotonia, ataxia, delayed motor development, hearing impairment and loss of vision due to optic atrophy." "" + "X-linked spinocerebellar ataxia type 4" "Spinocerebellar ataxia, X-linked, type 4 is characterised by ataxia, pyramidal tract signs and adult-onset dementia. It has been described in three generations of one large family. The disease manifests during early childhood with delayed walking and tremor. The pyramidal signs appear progressively and by adulthood memory problems and dementia gradually become apparent. Transmission is X-linked but the causative gene has not yet been identified. The disease is usually fatal during the sixth decade of life." "" + "Bazex-Dupre-Christol syndrome" "Bazex-Dupre-Christol syndrome is a rare genodermatosis (hereditary skin disease) with a predisposition to early-onset basal cell carcinomas." "" + "tubulin, beta" "" + "Borjeson-Forssman-Lehmann syndrome" "Borjeson-Forssman-Lehmann syndrome (BFLS) is a rare X-linked obesity syndrome characterized by intellectual deficit, truncal obesity, characteristic facial features, hypogonadism, tapered fingers and short toes." "" + "Mononen-Karnes-Senac syndrome" "Mononen-Karnes-Senac syndrome is characterized by skeletal dysplasia associated with finger malformations (brachydactyly with short and abducted thumbs, short index fingers, and markedly short and abducted great toes), variable mild short stature, and mild bowleg with overgrowth of the fibula. It has been described in two males, their mothers, and a maternal aunt. Females are less severely affected than males. X-linked dominant inheritance is suggested." "" + "X-linked mandibulofacial dysostosis" "X-linked mandibulofacial dysostosis is an extremely rare multiple congenital abnormality syndrome that is characterized by microcephaly, malar hypoplasia with downslanting palpebral fissures, highly arched palate, apparently low-set and protruding ears, micrognathia, short stature, bilateral hearing loss, and learning disability. Occasionally, additional features have been observed such as bilateral cryptorchidism, cardiac valvular lesions, body asymmetry, and pectus excavatum." "" + "bullous dystrophy, macular type" "Bullous dystrophy, macular type is a genetic disorder characterised by formation of bullae without traumatic origin, alopecia, hyperpigmentation, acrocyanosis, short stature, microcephaly, intellectual deficit, tapering fingers and nail abnormalities. Two families (one of whom was Dutch and the other Italian) have been described up to now, in which only males were affected. Transmission is X-linked recessive. The bullous dystrophy locus has been mapped to Xq26.3 in the Italian family and to Xq27.3 in the Dutch family." "" + "X-linked calvarial hyperostosis" "" + "qualitative or quantitative defects of dystrophin" "" + "Barth syndrome" "Barth syndrome (BTHS) is an inborn error of phospholipid metabolism characterized by dilated cardiomyopathy (DCM), skeletal myopathy, neutropenia, growth delay and organic aciduria." "" + "mitochondrial disease with dilated cardiomyopathy" "True" + "cataract 40" "Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the NHS gene." "" + "Nance-Horan syndrome" "Nance-Horan syndrome (NHS) is characterized by the association in male patients of congenital cataracts with microcornea, dental anomalies and facial dysmorphism." "" + "central incisors, absence of" "" + "X-linked progressive cerebellar ataxia" "" + "spinocerebellar ataxia, X-linked 2" "" + "Charcot-Marie-Tooth disease X-linked dominant 1" "Charcot-Marie-Tooth neuropathy that is inherited in an X-linked manner, and is associated with mutation(s) in the GJB1 gene, encoding gap junction beta-1 protein. The condition is characterized by moderate to severe motor and sensory neuropathy in males, and mild to no symptoms in females." "" + "Charcot-Marie-Tooth disease X-linked recessive 2" "X-linked Charcot-Marie-Tooth disease type 2 is a rare, genetic, peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the infantile- to childhood-onset of progressive, distal muscle weakness and atrophy (more prominent in the lower extremities than in the upper extremities), pes cavus, and absent tendon reflexes. Sensory impairment and intellectual disability has been reported in some individuals." "" + "Charcot-Marie-Tooth disease X-linked recessive 3" "X-linked Charcot-Marie-Tooth disease type 3 is a rare, genetic, peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the childhood- to adolescent-onset of progressive, distal muscle weakness and atrophy (beginning in the lower extremities and then affecting the upper extremities), as well as distal, pansensory loss in the upper and lower extremities, pes cavus, and absent or reduced distal tendon reflexes. Pain and paresthesia are frequently the initial sensory symptoms. Spastic paraparesis (manifested by clasp-knife sign, hyperactive deep-tendon reflexes, and Babinski sign) has also been reported." "" + "Charcot-Marie-Tooth peroneal muscular atrophy, X-linked, with aplasia cutis congenita" "" + "Charcot-Marie-Tooth peroneal muscular atrophy and Friedreich ataxia, combined" "" + "Abruzzo-Erickson syndrome" "Abruzzo-Erikson syndrome is a multiple congenital anomalies syndrome characterized by a cleft palate, ocular coloboma, hypospadias, mixed conductive-sensorineural hearing loss, short stature, and radio-ulnar synostosis." "" + "X-linked chondrodysplasia punctata 1" "Brachytelephalangic chondrodysplasia punctata (BCDP) is a form of nonrhizomelic chondrodysplasia punctata, a primary bone dysplasia, characterized by hypoplasia of the distal phalanges of the fingers, nasal hypoplasia, epiphyseal stippling appearing in the first year of life, and mild and nonrhizomelic shortness of the long bones." "" + "X-linked chondrodysplasia punctata" "X-linked form of chondrodysplasia punctata." "" + "choroideremia-deafness-obesity syndrome" "Choroideremia-deafness-obesity syndrome is an X-linked retinal dystrophy characterized by choroideremia, causing in affected males progressive nyctalopia and eventual central blindness. Obesity, moderate intellectual disability and congenital mixed (sensorineural and conductive) deafness are also observed. Female carriers show typical retinal changes indicative of the choroideremia carrier state." "" + "MASA syndrome" "MASA syndrome (Mental retardation, Aphasia, Spastic paraplegia, Adducted thumbs) is a historical term used to describe a phenotype now considered to be part of the X-linked L1 clinical spectrum (L1 syndrome). MASA is characterized by mild to moderate intellectual deficit, delayed development of speech, hypotonia progressing to spasticity or spastic paraplegia, adducted thumbs, and mild to moderate distension of the cerebral ventricles." "" + "L1 syndrome" "L1 syndrome is a mild to severe congenital X-linked developmental disorder characterized by hydrocephalus of varying degrees of severity, intellectual deficit, spasticity of the legs, and adducted thumbs. The syndrome represents a spectrum of disorders including: X-linked hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS), MASA syndrome, X-linked complicated hereditary spastic paraplegia type 1, and X-linked complicated corpus callosum agenesis." "" + "X-linked complex spastic paraplegia" "" + "cleft palate with or without ankyloglossia, X-linked" "X-linked cleft palate and ankyloglossia is a rare, genetic developmental defect during embryogenesis syndrome characterized by the association of complete, partial or submucous cleft palate and ankyloglossia. Patients may also present abnormal uvula (e.g. absent, bifid, shortened or laterally deviated), short lingual frenulum and dental anomalies (e.g. buccal crossbite, absent and/or misshapen teeth). Digital abnormalities, such as mild clinodactyly and/or syndactyly, have also been reported." "" + "Coffin-Lowry syndrome" "Coffin-Lowry syndrome (CLS) is a rare genetic neurological disorder characterized by psychomotor and growth retardation, facial dysmorphism, digit abnormalities, and progressive skeletal changes." "" + "colonic atresia" "Colonic atresia is a congenital intestinal malformation resulting in a non-latent segment of the colon and characterized by lower intestinal obstruction manifesting with abdominal distention and failure to pass meconium in newborns." "" + "blue cone monochromacy" "Blue cone monochromatism (BCM) is a recessive X-linked disease characterized by severely impaired color discrimination, low visual acuity, nystagmus, and photophobia, due to dysfunction of the red (L) and green (M) cone photoreceptors. BCM is as an incomplete form of achromatopsia." "" + "red-green color blindness" "Deuteranopia is a type of color vision deficiency where the green photoreceptors are absent. It affects hue discrimination in the same way as protanopia, but without the dimming effect. Like protanopia, it is hereditary, sex-linked, and found in about 1% of the male population." "" + "red color blindness" "Protanopia is a severe type of color vision deficiency caused by the complete absence of red retinal photoreceptors. Protans have difficulties distinguishing between blue and green colors and also between red and green colors. It is a form of dichromatism in which the subject can only perceive light wavelengths from 400 to 650 nm, instead of the usual 700 nm. Pure reds cannot be seen, instead appearing black; purple colors cannot be distinguished from blues; more orange-tinted reds may appear as very dim yellows, and all orange-yellow-green shades of too long a wavelength to stimulate the blue receptors appear as a similar yellow hue. It is hereditary, sex-linked, and present in 1% of males." "" + "X-linked cone-rod dystrophy 1" "" + "cone dystrophy, X-linked, with tapetal-like sheen" "" + "Aicardi syndrome" "Aicardi syndrome is a rare neurodevelopmental disorder defined by the triad of agenesis of the corpus callosum (total or partial), typical chorioretinal lacunae and infantile spasms that affect almost exclusively females." "" + "X-linked complicated corpus callosum dysgenesis" "X-linked complicated corpus callosum dysgenesis is a historical term used to describe a phenotype now considered to be part of the L1 clinical spectrum (L1 syndrome). The disorder is characterized by variable spastic paraplegia, mild to moderate intellectual deficit, and dysplasia, hypoplasia or aplasia of the corpus callosum." "" + "craniofrontonasal syndrome" "Craniofrontonasal dysplasia is an X-linked malformation syndrome characterized by facial asymmetry (particularly orbital), body asymmetry, midline defects (hypertelorism, frontal bossing, broad grooved or bifid nasal tip, cleft lip and/or palate, high arched palate), skeletal anomalies (clavicle pseudoarthrosis, coronal craniosynostosis, various digital and limb anomalies including syndactyly, clinodactyly of the 5th finger, broad thumbs) and ectodermal dysplasias (dental anomalies, grooved nails, wiry hair). Contrary to most X-linked disorders, females are much more severely affected whereas males are asymptomatic or present with a mild phenotype, frequently only displaying hypertelorism." "" + "otopalatodigital syndrome type 2" "Otopalatodigital syndrome type 2 (OPD2) is a severe form of otopalatodigital syndrome spectrum disorder, and is characterized by dysmorphic facies, severe skeletal dysplasia affecting the axial and appendicular skeleton, extraskeletal anomalies (including malformations of the brain, heart, genitourinary system, and intestine) and poor survival." "" + "otopalatodigital syndrome" "Otopalatodigital (OPD) syndrome is a form of frontootopalatodigital syndrome, characterized by deafness, cleft palate, and characteristic digital anomalies. OPD syndrome is divided into two forms based on severity: the milder form designated OPD type 1 (OPD1), and the more severe and often lethal form designated OPD type 2 (OPD2). OPD is an X-linked disorder. Two other genetic disorders with features overlapping OPD, frontometaphyseal dysplasia (FMD) and osteodysplasty, Melnick-Needles type (MNS) have been described; thus OPD1, OPD2, FMD, and MNS are allelic disorders." "" + "occipital horn syndrome" "Occipital horn syndrome (OHS) is a mild form of Menkes disease (MD), a syndrome characterized by progressive neurodegeneration and connective tissue disorders due to a copper transport defect." "" + "cutis verticis gyrata, thyroid aplasia, and intellectual disability" "" + "syndromic X-linked intellectual disability 5" "X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (XDIBS), or Pettigrew syndrome is a central nervous system malformation characterized by severe intellectual deficit, early hypotonia with progression to spasticity and contractures, choreoathetosis, seizures, dysmorphic face (long face with prominent forehead), and brain imaging abnormalities such as Dandy-Walker malformation, and iron deposition." "" + "deafness-hypogonadism syndrome" "This syndrome is characterized by the association of congenital mixed hearing loss with perilymphatic gusher (Gusher syndrome or DFN3), hypogonadism and abnormal behavior." "" + "X-linked mixed hearing loss with perilymphatic gusher" "X-linked mixed deafness with perilymphatic gusher, also known as X-linked deafness type 2, is a rare form of non-syndromic genetic deafnesss affecting males and characterized by pathognomonic inner ear anomalies and conductive and profound sensorineural hearing loss. The inner ear anomalies are described as dilatation of the internal auditory meatus and fistulous connection between the cochlear basal turn and internal auditory canal resulting in perilympatic gusher on attempted mobilization of a fixed stapes. Obligate female carriers may suffer from mild to moderate hearing loss." "" + "hearing loss, X-linked 1" "" + "deafness dystonia syndrome" "Mohr-Tranebjaerg syndrome (MTS) is an X-linked recessive neurodegenerative syndrome characterized by clinical manifestations commencing with early childhood onset hearing loss, followed by adolescent onset progressive dystonia or ataxia, visual impairment from early adulthood onwards and dementia from the 4th decade onwards." "" + "mitochondrial protein import disorder" "" + "X-linked corneal dermoid" "X-linked corneal dermoid (X-CND) is an exceedingly rare, benign, congenital, corneal tumor characterized by bilateral opacification of the cornea with superficial grayish layers and irregular raised whitish plaques, as well as fine blood vessels covering the central cornea, and intact peripheral corneal borders.No other ocular or systemic abnormality is noted. The pattern of inheritance described in the affected family is consistent with X-linked transmission." "" + "immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome" "Immunodysregulation - polyendocrinopathy - enteropathy - X-linked (IPEX) syndrome is a severe congenital systemic autoimmune disease characterized by refractory diarrhea, endocrinopathies, cutaneous involvement, and infections." "" + "autoimmune enteropathy" "Severe-immune mediated enteropathy describes a variety of intestinal disorders that can range from a serious, early-onset systemic disease (IPEX) to a mild isolated gastrointestinal disease. In children it manifests with severe diarrhea and dehydration in the presence of characteristic antibodies (anti-enterocyte and anti-goblet cell) and in adults with chronic diarrhea, malabsorption and weight loss." "" + "diabetes insipidus, nephrogenic, X-linked" "" + "obsolete diabetes insipidus, neurohypophyseal type, X-linked inheritance" "" "true" + "Dyggve-Melchior-Clausen syndrome, X-linked" "X-linked form of Dyggve-Melchior-Clausen disease." "" + "dyskeratosis congenita, X-linked" "X-linked form of dyskeratosis congenita." "" + "DKC1-related disorder" "Any dyskeratosis congenita in which the cause of the disease is a mutation in the DKC1 gene." "" + "X-linked hypohidrotic ectodermal dysplasia" "An X-linked form of ectodermal dysplasia which results from mutations of the gene encoding ectodysplasin." "" + "X-linked Ehlers-Danlos syndrome" "Ehlers-Danlos syndromes (EDS) form a heterogeneous group of hereditary connective tissue diseases characterized by joint hyperlaxity, cutaneous hyperelasticity and tissue fragility. EDS type V is characterised by hyperextensible skin but tissue fragility and joint hyperlaxity are mild. This form of EDS is very rare and has been described in only two families so far. Other reported features include congenital heart disease, hernias and short stature. Transmission is X-linked recessive." "" + "epidermodysplasia verruciformis, X-linked" "X-linked form of epidermodysplasia verruciformis." "" + "exudative vitreoretinopathy 2, X-linked" "Any exudative vitreoretinopathy in which the cause of the disease is a mutation in the NDP gene." "" + "Aarskog-Scott syndrome, X-linked" "Aarskog-Scott syndrome (AAS) is a rare developmental disorder characterized by facial, limbs and genital features, and a disproportionate acromelic short stature." "" + "FG syndrome 1" "Any FG syndrome in which the cause of the disease is a mutation in the MED12 gene." "" + "fingerprint body myopathy" "Fingerprint body myopathy is a congenital benign muscle disorder characterised by congenital hypotonia and weakness and by the presence of numerous fingerprint bodies located at the periphery of the muscle fibers. Prevalence is unknown. Less than 20 patients have been described. Few sporadic cases have been observed, as well as cases of recessive transmission." "" + "focal dermal hypoplasia" "Goltz syndrome or focal dermal hypoplasia is characterized by a polymorphic cutaneous disorder and highly variable anomalies affecting the eyes, teeth, skeleton and the central nervous, urinary, gastrointestinal and cardiovascular systems." "" + "obsolete Frontometaphyseal dysplasia" "" "true" + "inherited genitourinary tract anomalies" "" + "Sertoli cell-only syndrome" "Sertoli cell-only syndrome (SCO syndrome) is a cause of male infertility. In SCO syndrome, only Sertoli cells (cells that nurture the immature sperm) line the seminiferous tubules (tubes inside the testicles where sperm develop). Therefore, there are not any sperm cells present in the seminiferous tubules. Men typically learn they are affected between ages 20-40 years when being evaluated for infertility and are found to have no sperm production (azoospermia). Other signs and symptoms are rare, but in some cases there could be an underlying cause of SCO syndrome that causes other symptoms, such as Klinefelter syndrome. Most cases of SCO syndrome are idiopathic (of unknown cause), but causes may include deletions of genetic information on regions of the Y-chromosome, especially on the azoospermia factor (AZF) region of Y-chromosome. Other causes include exposure to chemicals or toxins, history of radiation therapy, and history of severe trauma. Diagnosis of SCO syndrome is confirmed with testicular biopsy. Although there is currently no effective treatment, assisted reproductive technology may assist some men with SCO syndrome in being able to have children." "" + "membranoproliferative glomerulonephritis, X-linked" "" + "primary membranoproliferative glomerulonephritis" "A rare glomerular disease characterized by a pattern of glomerular injury on kidney biopsy with characteristic light microscopic changes: mesangial hypercellularity, endocapillary proliferation, and thickening of the glomerular basement membrane (GBM). On the basis of immunofluorescence (IF) the disorder is divided into C3 glomerulopathy (C3G) or immunoglobulin-mediated membranoproliferative glomerulonephritis. Through electron microscopy C3G is further divided into Dense deposit disease, with highly electrondense deposits in the glomerular basement membrane, and C3 glomerulonephritis, with mesangial, intramembranous, subendothelial and subepithelial deposits. Secondary causes (autoimmune, infectious, malignancies) are excluded." "" + "glutamyl ribose-5-phosphate storage disease" "" + "glycogen storage disease IXa1" "Any glycogen storage disease in which the cause of the disease is a mutation in the PHKA2 gene, with no PHK activity in liver or erythrocytes." "" + "granulomas, congenital cerebral" "" + "granulomatous disease, chronic, X-linked" "" + "obsolete gynecomastia, familial" "An instance of gynecomastia that is caused by an inherited modification of the individual's genome." "" "true" + "hemophilia A" "The most common form of hemophilia characterized by spontaneous or prolonged hemorrhages due to factor VIII deficiency." "" + "hemophilia" "Hemophilia is a genetic disorder characterized by spontaneous hemorrhage or prolonged bleeding due to factor VIII or IX deficiency." "" + "hemophilia A with vascular abnormality" "" + "hemophilia B" "Hemophilia B is a form of hemophilia characterized by spontaneous or prolonged hemorrhages due to factor IX deficiency." "" + "hemopoietic proliferation" "" + "hernia, anterior diaphragmatic" "" + "heterotaxy, visceral, 1, X-linked" "X-linked visceral heterotaxy type 1 is a very rare form of heterotaxy that has only been reported in a few families. Heterotaxy is the right/left transposition of thoracic and/or abdominal organs. This condition is caused by mutations in the ZIC3 gene, is inherited in an X-linked recessive fashion, and is usually seen in males. Physical features include heart abnormalities such as dextrocardia, transposition of great vessels, ventricular septal defect, patent ductus arteriosus, pulmonic stenosis ; situs inversus, and missing (asplenia) and/or extra spleens (polysplenia).Affected individualscan also experience abnormalities in the development of the midline of the body, which can cause holoprosencephaly, myelomeningocele, urological anomalies, widely spaced eyes (hypertelorism), cleft palate, and abnormalities of the sacral spine and anus. Heterotaxia with recurrent respiratory infections are called primary ciliary dyskinesia." "" + "Hhhh syndrome" "" + "obsolete Hirschsprung disease with type d brachydactyly" "" "true" + "holoprosencephaly-hypokinesia-congenital contractures syndrome" "An extremely rare and fatal central nervous system malformation occurring during embryogenesis, presenting prenatally with holoprosencephaly and fetal hypokinesia as major features. Other manifestations include microcephaly, multiple contractures and intrauterine growth restriction. An X-linked recessive inheritance has been suggested." "" + "central nervous system malformation" "" + "hydrocephaly-cerebellar agenesis syndrome" "This syndrome is characterised by infantile hypotonia followed by onset of ataxia, cataract and intellectual deficit by preschool age. Cerebral atrophy was also reported." "" + "inborn disorder of glycerol metabolism" "An acquired metabolic disease that is has its basis in the disruption of glycerol metabolic process." "" + "X-linked congenital generalized hypertrichosis" "X-linked congenital generalized hypertrichosis is an extremely rare type of hypertrichosis lanuginosa congenita, a congenital skin disease, which is characterized by hair overgrowth on the entire body in males, and mild and asymmetric hair overgrowth in females. It is associated with a mild facial dysmorphism (anterverted nostrils, moderate prognathism), and, in a kindred, it was also associated with dental anomalies and deafness." "" + "isolated growth hormone deficiency type III" "" + "obsolete hypogonadism, male" "" "true" + "male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome" "This syndrome is characterized by hypergonadotropic hypogonadism, intellectual deficit, congenital skeletal anomalies involving the cervical spine and superior ribs, and diabetes mellitus." "" + "familial isolated hypoparathyroidism due to agenesis of parathyroid gland" "Hypoparathyroidism in which the inheritance is recessive and linked to the q26-q27 region of the X chromosome. The parathyroid glands are usually incompletely developed (parathyroid dysgenesis) or absent (parathyroid agenesis)." "" + "X-linked dominant hypophosphatemic rickets" "X-linked hypophosphatemia (XLH) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia, and diminished growth." "" + "X-linked dominant disease" "X-linked dominant form of disease." "" + "hypouricemia, familial renal, due to tubular hypersecretion" "" + "CHILD syndrome" "CHILD syndrome (Congenital Hemidysplasia with Ichthyosiform nevus and Limb Defects, CS) is an X-linked dominant genodermatosis characterized by unilateral inflammatory and scaling skin lesions with ipsilateral visceral and limb anomalies." "" + "X-linked ichthyosis syndrome" "X-linked form of inherited ichthyosis syndromic form." "" + "inherited ichthyosis" "Mendelian disorders of cornification affecting all or most of integument characterized by hyperkeratosis and/or scaling, caused by an inherited modification of the individual's genome." "" + "sterol metabolism disorder" "An acquired metabolic disease that is has its basis in the disruption of sterol metabolic process." "" + "ichthyosis and male hypogonadism" "" + "obsolete IFAP/BRESHECK syndrome" "" "true" + "immunodeficiency, X-linked, with deficiency of 115,000 Dalton surface glycoprotein" "" + "hyper-IgM syndrome type 1" "The X-linked variant of the Hyper-IgM syndrome. The affected individuals are virtually always male, because males only have one X chromosome, received from their mothers. Their mothers are not symptomatic, even though they are carriers of the allele, because the trait is recessive. Male offspring of these women have a 50% chance of inheriting their mother's mutant allele." "" + "hyper-IgM syndrome with susceptibility to opportunistic infections" "" + "lymphoproliferative syndrome" "A disorder characterized by proliferation of lymphocytes at various stages of differentiation. Lymphoproliferative disorders can be neoplastic (clonal, as in lymphomas and leukemias) or reactive (polyclonal, as in infectious mononucleosis)." "" + "immunoglobulin M, level of" "" + "impacted teeth, multiple" "" + "imprinting gene related to retinoblastoma" "" + "incontinentia pigmenti" "Incontinentia pigmenti (IP) is a rare X-linked dominant multi-systemic ectodermal dysplasia usually lethal in males and presenting neonatally in females with a bullous rash along Blashko's lines (BL) followed by verrucous plaques evolving over time to hyperpigmented swirling patterns. It is further characterized by teeth abnormalities, alopecia, nail dystrophy and affects occasionally the retina and the central nervous system (CNS)." "" + "precancerous lesion of palpebral epidermis" "A precancerous condition that involves the skin of eyelid." "" + "developmental and epileptic encephalopathy, 1" "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the ARX gene." "" + "iris hypoplasia with glaucoma" "" + "jaundice, familial obstructive, of infancy" "" + "hypogonadotropic hypogonadism 1 with or without anosmia" "The X-linked inherited form of Kallmann syndrome caused by mutation of the KAL1 gene mapped to chromosome Xp22.3." "" + "Kallmann syndrome with spastic paraplegia" "" + "keratosis follicularis spinulosa decalvans, X-linked" "" + "keratosis follicularis-dwarfism-cerebral atrophy syndrome" "Keratosis follicularis-dwarfism-cerebral atrophy syndrome is characterized by generalized keratosis follicularis, severe proportionate dwarfism and cerebral atrophy. It has been described in six males from one family (three boys and three maternal uncles). Generalized alopecia and microcephaly were also present." "" + "Leber optic atrophy, susceptibility to" "" + "Leber hereditary optic neuropathy" "Leber's hereditary optic neuropathy (LHON) is a mitochondrial neurodegenerative disease affecting the optic nerve and often characterized by sudden vision loss in young adult carriers." "" + "Lesch-Nyhan phenotype with normal HGPRT" "" + "proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis" "" + "renal disease with cataract" "True" + "macular dystrophy, X-linked" "" + "spermatogenic failure, X-linked, 2" "Any azoospermia in which the cause of the disease is a mutation in the TEX11 gene." "" + "major affective disorder 2" "" + "isolated congenital megalocornea" "Isolated congenital megalocornea is a genetic, non-syndromic developmental defect of the anterior eye segment characterized by bilateral enlargement of the corneal diameter (>12.5 mm) and a deep anterior eye chamber, without an elevation in intraocular pressure. It can manifest with mild to moderate myopia as well as photophobia and iridodonesis (due to iris hypoplasia). Associated complications include lens dislocation, retinal detachment, presenile cataract development, and secondary glaucoma." "" + "corneogoniodysgenesis" "" + "Melnick-Needles syndrome" "Melnick-Needles syndrome (MNS) belongs to the otopalatodigital syndrome spectrum disorder and is associated with a short stature, facial dysmorphism, osseous abnormalities involving the majority of the axial and appendicular skeleton resulting in impaired speech and masticatory problems." "" + "Menkes disease" "Menkes disease (MD) is a usually severe multisystemic disorder of copper metabolism, characterized by progressive neurodegeneration and marked connective tissue anomalies as well as typical sparse abnormal steely hair." "" + "X-linked intellectual disability-seizures-psoriasis syndrome" "X-linked intellectual disability-seizures-psoriasis syndrome has been described in four male cousins. The mode of inheritance is thought to be X-linked recessive." "" + "Renpenning syndrome" "Renpenning syndrome is an X-linked intellectual disability syndrome (XLMR) characterized by intellectual deficiency, microcephaly, leanness and mild short stature." "" + "Partington syndrome" "A rare neurological condition that is primarily characterized by mild to moderate intellectual disability and dystonia of the hands. Other signs and symptoms may include dysarthria, behavioral abnormalities, recurrent seizures and/or an unusual gait (style of walking). Partington syndrome usually occurs in males; when it occurs in females, the signs and symptoms are often less severe. It is caused by changes (mutations) in the ARX gene and is inherited in an X-linked recessive manner. Treatment is based on the signs and symptoms present in each person." "" + "ARX-related epileptic encephalopathy" "" + "X-linked intellectual disability with marfanoid habitus" "The Lujan-Fryns syndrome or X-linked mental retardation (XLMR) with marfanoid habitus syndrome is a syndromic X-linked form of intellectual disability, associated with tall, marfanoid stature, distinct facial dysmorphism and behavioral problems." "" + "intellectual disability, X-linked 1" "An X-linked dominant condition caused by mutation(s) in the IQSEC2 gene, encoding IQ motif and SEC7 domain-containing protein 2. It is characterized by substantially impaired intellectual functioning and behavioral abnormalities." "" + "methylmalonic acidemia with homocystinuria, type cblX" "" + "syndromic X-linked intellectual disability 12" "X-linked intellectual disability, Wilson type is characterised by severe intellectual deficit with mutism, epilepsy, growth retardation and recurrent infections. It has been described in three males from three generations of one family. The causative gene has been localised to the 11p region of the X chromosome." "" + "FRAXE intellectual disability" "FRAXE is a form of nonsyndromic X-linked mental retardation (NS-XLMR) characterized by mild intellectual deficit. FRAXE is the most common form of NS-XLMR." "" + "intellectual disability, X-linked 9" "Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the FTSJ1 gene." "" + "severe X-linked intellectual disability, Gustavson type" "Severe X-linked intellectual disability, Gustavson type is characterised by X-linked mental retardation, microcephaly, optical atrophy with impaired vision or blindness, a severe hearing defect, facial dysmorphology, spasticity, epileptic seizures and restricted joint movement. It has been described in seven children from two generations of a Swedish family. All patients died in during early childhood." "" + "paraplegia-intellectual disability-hyperkeratosis syndrome" "Paraplegia-intellectual disability-hyperkeratosis syndrome is characterized by intellectual deficit, spasticity in the lower limbs (spastic paraplegia), pes cavus deformity of both feet, an abnormal gait, and palmar and plantar hyperkeratosis. It has been reported in four brothers. The mother of the affected boys had normal intelligence, plantar hyperkeratosis and a strong facial resemblance to her retarded sons. Her three daughters were normal. This syndrome most likely an X-linked recessive condition." "" + "X-linked intellectual disability-hypotonic face syndrome" "Mental retardation-hypotonic facies covers a group of X-linked syndromes characterized by severe intellectual deficit and facial dysmorphism, with variable other features." "" + "syndromic X-linked intellectual disability Snyder type" "Snyder-Robinson syndrome (SRS) is an X-linked intellectual disability syndrome, including also hypotonia, an unsteady gait, osteoporosis, kyphoscoliosis and facial asymmetry. Severe generalized psychomotor evolving to moderate to profound global intellectual disability is also observed." "" + "Wilson-Turner syndrome" "Wilson-Turner syndrome (WTS) is a very rare X-linked multisystem genetic disease characterized by intellectual disability, truncal obesity, gynecomastia, hypogonadism, dysmorphic facial features, and short stature." "" + "obsolete Miles-Carpenter syndrome" "" "true" + "Prieto syndrome" "This syndrome is characterised by intellectual deficit associated with facial dysmorphism, patella luxation, and abnormal growth of the teeth." "" + "skeletal dysplasia-intellectual disability syndrome" "Skeletal dysplasia-intellectual disability syndrome combines skeletal anomalies (short stature, ridging of the metopic suture, fusion of cervical vertebrae, thoracic hemivertebrae, scoliosis, sacral hypoplasia and short middle phalanges) and mild intellectual deficit. It has been described in four male cousins in three sibships. Glucose intolerance was present in three cases, and imperforated anus in one case. Carrier females had minor manifestations (fusion of cervical vertebrae and glucose intolerance). Transmission seems to be X-linked." "" + "syndactyly type 8" "Syndactyly type 8 is a rare, genetic, non-syndromic, congenital limb malformation characterized by unilateral or bilateral fusion of the fourth and fifth metacarpals with no other associated abnomalities. Patients present shortened fourth and fifth metacarpals with excessive separation between their distal ends, resulting in marked ulnar deviation of the little finger and an inability to bring the fifth finger in parallel with the other fingers." "" + "X-linked intellectual disability-spastic quadriparesis syndrome" "" + "microphthalmia, syndromic 1" "" + "modifier, X-linked, for Neurofunctional defects" "" + "mucopolysaccharidosis type 2" "A lysosomal storage disease leading to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive coarse facial features, short stature, cardio-respiratory involvement and skeletal abnormalities. It manifests as a continuum varying from a severe to an attenuated form without neuronal involvement." "" + "lysosomal disease with hypertrophic cardiomyopathy" "True" + "muscular dystrophy, cardiac type" "" + "muscular dystrophy, Hemizygous lethal type" "" + "muscular dystrophy, Mabry type" "" + "muscular dystrophy, progressive Pectorodorsal" "" + "Duchenne muscular dystrophy" "Duchenne muscular dystrophy (DMD) is a neuromuscular disease characterized by rapidly progressive muscle weakness and wasting due to degeneration of skeletal, smooth and cardiac muscle." "" + "X-linked Emery-Dreifuss muscular dystrophy" "X-linked form of Emery-Dreifuss muscular dystrophy." "" + "qualitative or quantitative defects of emerin" "" + "myelolymphatic insufficiency" "" + "myoclonic epilepsy, progressive, X-linked" "" + "qualitative or quantitative defects of myotubularin" "" + "X-linked myopathy with excessive autophagy" "X-linked myopathy with excessive autophagy is a childhood-onset X-linked myopathy characterised by slow progression of muscle weakness and unique histopathological findings." "" + "myopia 1, X-linked" "" + "N syndrome" "N syndrome is characterised by intellectual deficit, deafness, ocular anomalies, T-cell leukaemia, cryptorchidism, hypospadias and spasticity." "" + "nephrolithiasis, X-linked recessive, with renal failure" "" + "hereditary sensory neuropathy X-linked" "A hereditary sensory neuropathy characterized by X-linked inheritance of slowly progressing neuropathy with onset in the first or second decade of life." "" + "Charcot-Marie-Tooth disease X-linked recessive 4" "X-linked Charcot-Marie-Tooth disease type 4 is a rare, genetic, axonal, peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the neonatal- to early childhood-onset of severe, slowly progressive, distal muscle weakness and atrophy (in particular of the peroneal group), as well as sensory impairment (with the lower extremities being more affected than the upper extremities), pes cavus, areflexia and hammertoes. Sensorineural hearing loss and cognitive impairment may also be associated. Females are asymptomatic and do not display the phenotype." "" + "congenital stationary night blindness 1A" "Any congenital stationary night blindness in which the cause of the disease is a mutation in the NYX gene." "" + "Norrie disease" "Norrie disease (ND) is a rare X-linked genetic vitreoretinal condition characterized by abnormal retinal development with congenital blindness. Common associated manifestations include sensorineural hearing loss and developmental delay, intellectual disability and/or behavioral disorders." "" + "nuclear ribonucleic acid" "" + "nystagmus 1, congenital, X-linked" "Any congenital nystagmus in which the cause of the disease is a mutation in the FRMD7 gene." "" + "nystagmus, myoclonic" "" + "occipital hair, white lock of" "" + "omphalocele, X-linked" "" + "ophthalmoplegia, external, and myopia" "" + "optic atrophy 2" "Early-onset X-linked optic atrophy is a rare form of hereditary optic atrophy, seen in only 4 families to date, with an onset in early childhood, characterized by progressive loss of visual acuity, significant optic nerve pallor and occasionally additional neurological manifestations, with females being unaffected." "" + "optic atrophy--spastic paraplegia syndrome" "" + "obsolete opticoacoustic nerve atrophy with dementia" "" "true" + "orofaciodigital syndrome I" "Oral-facial-digital syndrome type 1 (OFD1) is a rare neurodevelopmental disorder in the ciliopathy group that is lethal in males and characterized by variable anomalies including external malformations (craniofacial and digital), and possible involvement of the central nervous system (CNS) and of viscera (kidneys, pancreas and ovaries) in females." "" + "ornithine carbamoyltransferase deficiency" "Ornithine transcarbamylase deficiency (OTCD) is a disorder of urea cycle metabolism and ammonia detoxification characterized by either a severe, neonatal-onset disease found almost exclusively in males, or later-onset (partial) forms of the disease. Both present with episodes of hyperammonemia that can be fatal and which can lead to neurological complications." "" + "otopalatodigital syndrome type 1" "Otopalatodigital syndrome type 1 (OPD1) is the mildest form of otopalatodigital syndrome spectrum disorder, and is characterized by a generalized skeletal dysplasia, mild intellectual disability, conductive hearing loss, and typical facial anomalies." "" + "ouabain resistance" "True" + "premature ovarian failure 1" "Any primary ovarian failure in which the cause of the disease is a mutation in the FMR1 gene." "" + "Paine syndrome" "" + "Pallister-W syndrome" "W syndrome is characterised by intellectual deficit, epileptic seizures and facial dysmorphism. Skeletal anomalies are also often present. To date, it has been described in six male patients. The mode of transmission appears to be X-linked dominant." "" + "early-onset parkinsonism-intellectual disability syndrome" "Early-onset parkinsonism with intellectual deficit is a basal ganglia disorder characterised by parkinsonian-type symptoms (postural changes, tremor, rigidity), megalencephaly and variable intellectual deficit. Other signs are frontal bossing, persistent frontal lobe reflexes, strabismus and seizures. It has been described in three generations of one family. Transmission is X-linked, and the gene is located on chromosomal region Xq27.3-qter." "" + "Pierre Robin syndrome-faciodigital anomaly syndrome" "This syndrome is characterised by the association of Pierre Robin sequence (retrognathia, cleft palate and glossoptosis) with facial dysmorphism (high forehead with frontal bossing) and digital anomalies (tapering fingers, hyperconvex nails, clinodactyly of the fifth fingers and short distal phalanges, finger-like thumbs and easily subluxated first metacarpophalangeal joints).Growth and mental development were normal." "" + "TARP syndrome" "A rare developmental defect during embryogenesis syndrome characterized by Robin sequence (micrognathia, glossoptosis, and cleft palate), atrial septal defect, persistence of the left superior vena cava, and talipes equinovarus. The phenotype is variable, some patients present with further dysmorphic characteristics (e.g. hypertelorism, ear abnormalities) while others do not have any key findings. Additional features, such as syndactyly, polydactyly, or brain anomalies (e.g. cerebellar hypoplasia), have also been reported. The syndrome is almost invariably lethal with affected males either dying prenatally or living just a few months." "" + "panhypopituitarism, X-linked" "" + "properdin deficiency, X-linked" "A rare, hereditary, primary immunodeficiency due to a complement cascade protein anomaly characterized by significantly increased susceptibility to Neisseria species infections. It only affects males, typically presenting with severe or fulminant meningococcal disease." "" + "obsolete pseudohermaphroditism, incomplete male, type 1" "" "true" + "X-linked lethal multiple pterygium syndrome" "X-linked form of lethal multiple pterygium syndrome." "" + "pyruvate dehydrogenase E1-alpha deficiency" "Pyruvate dehydrogenase E1-alpha deficiency is the most frequent form of pyruvate dehydrogenase deficiency (PDHD) characterized by variable lactic acidosis, impaired psychomotor development, hypotonia and neurological dysfunction." "" + "absent radius-anogenital anomalies syndrome" "Absent radius-anogenital anomalies syndrome is a rare, genetic limb reduction defects syndrome characterized by bilateral radial aplasia/hypoplasia manifesting with absent/short forearms in association with anogenital abnormalities (e.g. hypospadias or imperforate anus). Additional features reported include hydrocephalus and absent preaxial digits. There have been no further descriptions in the literature since 1993." "" + "radiation sensitivity of natural killer activity" "" + "partial androgen insensitivity syndrome" "Partial androgen insensitivity syndrome (PAIS) is a disorder of sex development (DSD) distinct from complete AIS (CAIS) characterized by the presence of abnormal genital development in a 46,XY individual with normal testis development and partial responsiveness to age-appropriate levels of androgens." "" + "androgen insensitivity syndrome" "Androgen insensitivity syndrome (AIS) is a disorder of sex development (DSD) characterized by the presence of female external genitalia, ambiguous genitalia or variable defects in virilization in a 46,XY individual with absent or partial responsiveness to age-appropriate levels of androgens. It comprises two clinical subgroups: complete AIS (CAIS) and partial AIS (PAIS)." "" + "reticuloendotheliosis, X-linked" "" + "X-linked retinal dysplasia" "" + "retinitis pigmentosa 2" "Any retinitis pigmentosa in which the cause of the disease is a mutation in the RP2 gene." "" + "RP2-related retinopathy" "A retinopathy caused by variants in the X-linked gene, RP2." "" + "obsolete RP6" "" "true" + "X-linked retinoschisis" "A genetic ocular disease that is characterized by reduced visual acuity in males due to juvenile macular degeneration." "" + "Rett syndrome" "Rett syndrome (RTT) is a severe neurodevelopmental disorder affecting the central nervous system." "" + "Russell-silver syndrome, X-linked" "" + "SCARF syndrome" "SCARF syndrome is characterised by the association of skeletal abnormalities, cutis laxa, craniostenosis, ambiguous genitalia, psychomotor retardation and facial abnormalities. So far, it has been described in two males (maternal first cousins). The mode of inheritance was suggested to be X-linked recessive." "" + "X-linked intellectual disability, Schimke type" "X-linked mental retardation, Schimke type, is characterised by intellectual deficit, growth retardation with short stature, deafness and ophthalmoplegia. Choreoathetosis with muscle spasticity generally appears during childhood. It has been described in four boys, three of whom were from the same family. Transmission is X-linked." "" + "combined immunodeficiency, X-linked" "" + "spastic paraparesis-deafness syndrome" "Spastic paraparesis-deafness syndrome is a chronic neurodegenerative disorder characterised by spastic paraparesis (beginning at about 10 years of age) and hearing deficits." "" + "hereditary spastic paraplegia 2" "Spastic paraplegia type 2 (SPG2) is an X-linked leukodystrophy characterized primarily by spastic gait and autonomic dysfunction. When additional central nervous system (CNS) signs, such as intellectual deficit, ataxia, or extrapyramidal signs, are present, the syndrome is referred to as complicated SPG." "" + "spatial visualization, aptitude for" "" + "Kennedy disease" "Kennedy's disease, also known as bulbospinal muscular atrophy (BSMA), is a rare X-linked recessive motor neuron disease characterized by proximal and bulbar muscle wasting." "" + "bulbospinal muscular atrophy of adulthood" "A bulbospinal muscular atrophy that occurs in an adult." "" + "split hand-foot malformation 2" "A split-hand/foot malformation that has material basis in variation in the chromosome region Xq26." "" + "spondyloepiphyseal dysplasia tarda, X-linked" "X-linked spondyloepiphyseal dysplasia tarda is an inherited skeletal disorder that affects males only. Physical characteristics include moderate short-stature (dwarfism); moderate to severe spinal deformities; barrel-chest; disproportionately short trunk and neck;disproportionatelylong arms,and premature osteoarthritis, especially in the hip joints. Final male adult height ranges from 4 feet 10 inches to 5 feet 6 inches. Other skeletal features of this condition include decreased mobility of the elbow and hip joints, arthritis, and abnormalities of the hip joint which causes the upper leg bones to turn inward. This condition is caused by mutations in the TRAPPC2 gene and is inherited in an X-linked recessive pattern." "" + "spondylometaphyseal dysplasia, Golden type" "Spondylometaphyseal dysplasia, Golden type is a rare primary bone dysplasia disorder characterized by severe short stature, coarse facies, thoracolumbar kyphoscoliosis and enlarged joints with contractures. Psychomotor delay and intellectual disability may also be associated. Radiographic features include flat vertebral bodies, lacy ossification of the metaphyses of long bones and iliac crests, and marked sclerosis of the skull base." "" + "Taqi polymorphism" "" + "taurodontism, microdontia, and dens invaginatus" "" + "tooth agenesis, selective, X-linked, 1" "Any tooth agenesis in which the cause of the disease is a mutation in the EDA gene." "" + "pentalogy of Cantrell" "Pentalogy of Cantrell (POC) is a lethal multiple congenital anomalies syndrome, characterized by the presence of 5 major malformations: midline supraumbilical abdominal wall defect, lower sternal defect, diaphragmatic pericardial defect, anterior diaphragmatic defect and various intracardiac malformations. Ectopia cordis (EC) is often found in fetuses with POC." "" + "thrombocytopenia 1" "" + "hereditary thrombocytopenia with normal platelets" "" + "thrombocytopenia with elevated serum IgA and renal disease" "" + "beta-thalassemia-X-linked thrombocytopenia syndrome" "Beta-thalassemia - X-linked thrombocytopenia is a form of beta-thalassemia characterized by splenomegaly and petechiae, moderate thrombocytopenia, prolonged bleeding time due to platelet dysfunction, reticulocytosis and mild beta-thalassemia." "" + "beta-thalassemia with other manifestations" "Beta-thalassemias with other manifestations are a group of beta-thalassemias associated with another disorder." "True" + "thumbs, congenital Clasped" "" + "X-linked dystonia-parkinsonism" "X-linked dystonia-parkinsonism (XDP) is a neurodegenerative movement disorder characterized by adult-onset parkinsonism that is frequently accompanied by focal dystonia, which becomes generalized over time, and that has a highly variable clinical course." "" + "torticollis-keloids-cryptorchidism-renal dysplasia syndrome" "Torticollis-keloids-cryptorchidism-renal dysplasia syndrome is an extremely rare developmental defect during embryogenesis malformation syndrome characterized by congenital muscular torticollis associated with skin anomalies (such as multiple keloids, pigmented nevi, epithelioma), urogenital malformations (including cryptorchidism and hypospadias) and renal dysplasia (e.g. chronic pyelonephritis, renal atrophy). Additional reported features include varicose veins, intellectual disability and musculoskeletal anomalies." "" + "trigonocephaly-short stature-developmental delay syndrome" "Trigonocephaly-short stature-developmental delay syndrome is characterised by short stature, trigonocephaly and developmental delay. It has been described in three males. Moderate intellectual deficit was reported in one of the males and the other two patients displayed psychomotor retardation. X-linked transmission has been suggested but autosomal recessive inheritance can not be ruled out." "" + "ulnar hypoplasia-split foot syndrome" "Ulnar hypoplasia-split foot syndrome is characterised by the association of severe ulnar hypoplasia, absence of fingers two to five, and split-foot. It has been described in four males belonging to two generations of the same family. X-linked recessive inheritance is suggested, but autosomal dominant transmission cannot be excluded." "" + "unique green phenomenon" "" + "VACTERL association, X-linked, with or without hydrocephalus" "" + "cardiac valvular dysplasia, X-linked" "" + "van den Bosch syndrome" "Van den Bosch syndrome is characterized by intellectual deficit, choroideremia, acrokeratosis verruciformis, anhidrosis, and skeletal deformities. It has been observed in a single kindred. The syndrome is transmitted as an X-linked recessive trait and may be caused by a small X-chromosome deletion." "" + "vesicoureteral reflux, X-linked" "" + "Von Willebrand disease, X-linked form" "" + "widow's peak syndrome" "" + "Wieacker-Wolff syndrome" "A severe X-linked recessive neurodevelopmental disorder characterized by severe contractures (arthrogryposis) and intellectual disability." "" + "Wieacker-Wolff syndrome (spectrum)" "" + "Wildervanck syndrome" "Wildervanck syndrome is characterized by the triad of cervical vertebral fusion (Klippel-Feil anomaly), bilateral abducens palsy with retracted eyes (Duane syndrome) and congenital perceptive deafness." "" + "XH antigen" "" + "retinitis pigmentosa Y-linked" "Y-linked form of retinitis pigmentosa." "" + "lymphoma, Hodgkin, Y-linked pseudoautosomal" "" + "spermatogenic failure, Y-linked, 1" "" + "partial chromosome Y deletion" "Male sterility due to chromosome Y deletion is characterized by a severe deficiency of spermatogenesis. Chromosome Y deletions are a frequent genetic cause of male infertility." "" + "hearing loss, Y-linked 1" "" + "nonsyndromic deafness, Y-linked" "" + "46,XY disorder of gonadal development" "" + "obsolete 46,XX sex reversal 1" "" "true" + "spermatogenic failure, Y-linked, 2" "" + "hairy ears, Y-linked" "" + "ubiquitin-activating enzyme, Y-linked" "" + "Leber optic atrophy and dystonia" "" + "myopathy and diabetes mellitus" "" + "maternally-inherited mitochondrial myopathy" "" + "striatonigral degeneration, infantile, mitochondrial" "" + "retinitis pigmentosa-deafness syndrome" "An Usher syndrome characterized by retinitis pigmentosa and onset of sensorineural hearing impairment in the teens that has material basis in mutation in the MTTS2 gene in the mitochondrial genome." "" + "hypomagnesemia, hypertension, and hypercholesterolemia, mitochondrial" "" + "cardiomyopathy, infantile hypertrophic" "" + "cyclic vomiting syndrome" "A rare abnormality of the neuroendocrine system that is characterized by episodic nausea and vomiting." "" + "prelingual non-syndromic genetic hearing loss" "Prelingual non-syndromic genetic deafness is a rare, genetically highly heterogeneous otorhinolaryngologic disease, resulting from inner and/or middle ear or hearing nerve anomalies, typically characterized by bilateral, severe to profound hearing loss (mean sensorineural hearing impairment of 60 dB or more for 500-, 1,000-, and 2,000-Hz frequency tones in the better ear) which occurs before the onset of speech development and is not associated with visible external ear abnormalities or any other medical problems. It is usually nonprogressive and impedes oral language acquisition." "" + "postlingual non-syndromic genetic hearing loss" "Postlingual non-syndromic genetic deafness is a rare, genetically highly heterogeneous otorhinolaryngologic disease, resulting from inner and/or middle ear or hearing nerve anomalies, typically characterized by progressive, bilateral, moderate to profound hearing loss (mean sensorineural hearing impairment equal to 40 dB or more for 500-, 1,000-, and 2,000-Hz frequency tones in the better ear) which occurs after the onset of speech development and is not associated with visible external ear abnormalities or any other medical problems. Language development is not initially significantly delayed." "" + "mitochondrial myopathy with reversible cytochrome C oxidase deficiency" "" + "ataxia and polyneuropathy, adult-onset" "" + "myopathy, lactic acidosis, and sideroblastic anemia 3" "" + "Alzheimer disease, susceptibility to, mitochondrial" "" + "chloramphenicol toxicity" "" + "maternally-inherited diabetes and deafness" "Maternally inherited diabetes and deafness (MIDD) is a mitochondrial disorder characterized by maternally transmitted diabetes and sensorineural deafness." "" + "mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA" "True" + "chronic diarrhea with villous atrophy" "Chronic diarrhea with villous atrophy is a rare, genetic gastroenterological disease characterized by the early onset of chronic diarrhea, vomiting, anorexia, lactic acidosis, renal insuficiency and hepatic involvement (mild elevation of liver enzymes, steatosis, hepatomegaly). Partial villous atrophy (with eosinophilic infiltration) is observed on intestinal biopsy. Although diarrhea may resolve, the development of neurologic symptoms (cerebellar ataxia, sensorineural deafness, seizures), retinitis pigmentosa and muscle weakness may complicate disease course and lead to death. There have been no further descriptions in the literature since 1994." "" + "mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA" "True" + "Kearns-Sayre syndrome" "Kearns-Sayre syndrome (KSS) is a mitochondrial disease characterized by progressive external ophthalmoplegia (PEO), pigmentary retinitis and an onset before the age of 20 years. Common additional features include deafness, cerebellar ataxia and heart block." "" + "MELAS syndrome" "MELAS (Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke) syndrome is a rare progressive multisystemic disorder characterized by encephalomyopathy, lactic acidosis, and stroke-like episodes. Other features include endocrinopathy, heart disease, diabetes, hearing loss, and neurological and psychiatric manifestations." "" + "MERRF syndrome" "A condition that can be caused by mutation(s) in more than one mitochondrial gene. It is characterized by myoclonic epilepsy and ragged-red fibers present on muscle biopsy." "" + "myoglobinuria, recurrent" "An inborn error of metabolism characterized by abnormal urinary excretion of myoglobin due to acute destruction of skeletal muscle fibers. The exact prevalence remains unknown. In the majority of cases, the disease manifests in childhood and is often triggered by exertion or infection (febrile illness). Hypertonia, muscle stiffness and muscle pain, impaired kidney function and elevated levels of serum creatine kinase are common clinical features. Mutations in the mitochondrial DNA-encoded cytochrome C oxidase genes (MT-CO1 and MT-CO2) should be considered in patients with recurrent myoglobinuria. Recently, mutations in the LPIN1 gene (chromosome 2p21) have been reported to have a causative role in three patients with recurrent episodes of myoglobinuria, originating from consanguineous families. The disorder may occur sporadically, or be inherited in either a recessive or dominant manner." "" + "lethal infantile mitochondrial myopathy" "Lethal infantile mitochondrial myopathy is a rare mitochondrial oxidative phosphorylation disorder characterized by progressive generalized hypotonia, progressive external ophthalmoplegia and severe lactic acidosis, which results in early fatality (days to months after birth). Patients may present with lethargy and areflexia and may associate additional features, such as cardiomyopathy, renal dysfunction, liver involvement and seizures." "" + "nephropathy, chronic tubulointerstitial" "" + "NARP syndrome" "Neuropathy, Ataxia, and Retinitis Pigmentosa (NARP) syndrome is a clinically heterogeneous progressive condition characterized by a combination of proximal neurogenic muscle weakness, sensory-motor neuropathy, ataxia, and pigmentary retinopathy." "" + "Parkinson disease, mitochondrial" "" + "Pearson syndrome" "Pearson syndrome is characterized by refractory sideroblastic anemia, vacuolization of bone marrow precursors and exocrine pancreatic dysfunction." "" + "syndrome with hypoparathyroidism" "True" + "proximal tubulopathy-diabetes mellitus-cerebellar ataxia syndrome" "Proximal tubulopathy-diabetes mellitus-cerebellar ataxia syndrome is characterised by onset of proximal tubulopathy in the first year of life, followed by progressive development during childhood of skin anomalies (erythrocyanosis and abnormal pigmentation), blindness, osteoporosis, cerebellar ataxia, mitochondrial myopathy, deafness and diabetes mellitus." "" + "deafness, aminoglycoside-induced" "" + "Wolfram syndrome, mitochondrial form" "" + "spondylocamptodactyly syndrome" "Spondylo-camptodactyly syndrome is characterized by camptodactyly, flattened cervical vertebral bodies and variable degrees of thoracic scoliosis." "" + "pancreatic hypoplasia-diabetes-congenital heart disease syndrome" "Pancreatic hypoplasia-diabetes-congenital heart disease syndrome is characterized by partial pancreatic agenesis, diabetes mellitus, and heart anomalies (including transposition of the great vessels, ventricular or atrial septal defects, pulmonary stenosis, or patent ductus arteriosis)." "" + "Eiken syndrome" "Eiken syndrome is a rare familial skeletal dysplasia characterized by multiple epiphyseal dysplasia, with extremely retarded ossification. It has been described in 6 members of a unique consanguineous family." "" + "obsolete BRCATA" "" "true" + "bladder exstrophy" "Bladder exstrophy (or classic bladder exstrophy; CEB) is a congenital genitourinary malformation belonging to the spectrum of the exstrophy-epispadias complex (EEC) and is characterized by an evaginated bladder plate, epispadias and an anterior defect of the pelvis, pelvic floor and abdominal wall." "" + "retinitis pigmentosa 13" "Any retinitis pigmentosa in which the cause of the disease is a mutation in the PRPF8 gene." "" + "autosomal recessive nonsyndromic hearing loss 2" "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the MYO7A gene." "" + "fatal familial insomnia" "Fatal familial insomnia (FFI) is a very rare form of prion disease characterized by subacute onset of insomnia showing as a reduced overall sleep time, autonomic dysfunction, and motor disturbances." "" + "familial chronic myelocytic leukemia-like syndrome" "A chronic myeloid leukemia characterized by chronic myelocytic leukemia in early infancy and absence of the BCR/ABL fusion gene (Philadelphia chromosome)." "" + "vitamin D hydroxylation-deficient rickets, type 1B" "An autosomal recessive form of rickets caused by inactivating mutation(s) in the CYP2R1 gene, encoding vitamin D 25-hydroxylase, the hepatic enzyme that converts vitamin D to 25-hydroxyvitamin D, the precursor of 1,25-dihydroxyvitamin D (calcitriol). The condition is characterized by reduced serum concentrations of 25-hydroxyvitamin D, hypophosphatemia, hypocalcemia with secondary hyperparathyroidism and elevated serum alkaline phosphatase, and by failure to thrive, seizures, muscle weakness, and rickets." "" + "macrocytosis, familial" "" + "pancreatic beta cell agenesis with neonatal diabetes mellitus" "" + "chondrodysplasia-pseudohermaphroditism syndrome" "Chondrodysplasia - disorder of sex development is an extremely rare disorder of sex development, reported in only two siblings (one terminated in pregnancy) to date, characterized by the clinical features of 46,XY complete gonadal dysgenesis (normal external female genitalia, lack of pubertal development, primary amenorrhea, and hypergonadotrophic hypogonadism) in association with severe dwarfism with generalized chondrodysplasia (bell-shaped thorax, micromelia, brachydactyly). Other reported features in the live sibling included eye anomalies (hypoplastic irides, myopia, coloboma of optic discs), dysmorphic features (deep-set eyes, upslanting palpebral fissures, puffy eyelids, large ears and mouth, mild prognathism), muscular hypoplasia, mild intellectual deficiency and severe microcephaly with cerebellar vermis hypoplasia. An autosomal recessive inheritance has been suggested." "" + "spondyloepiphyseal dysplasia tarda with characteristic facies" "" + "Qazi Markouizos syndrome" "Qazi-Markouizos syndrome is characterised principally by non-progressive central hypotonia, chronic constipation, severe psychomotor retardation, abnormal dermatoglyphics, dysharmonic skeletal maturation and disproportionate muscle fibres. Seizures or an abnormal electroencephalograph were also reported. To date, the syndrome has been reported in three unrelated Puerto Rican boys." "" + "autosomal dominant nonsyndromic hearing loss 2A" "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the KCNQ4 gene." "" + "retinitis pigmentosa 12" "Any retinitis pigmentosa in which the cause of the disease is a mutation in the CRB1 gene." "" + "Stargardt disease 3" "" + "autosomal recessive juvenile Parkinson disease 2" "A group of disorders which feature impaired motor control characterized by bradykinesia, muscle rigidity; tremor; and postural instability. Parkinsonian diseases are generally divided into primary parkinsonism (see parkinson disease), secondary parkinsonism (see parkinson disease, secondary) and inherited forms. These conditions are associated with dysfunction of dopaminergic or closely related motor integration neuronal pathways in the basal ganglia." "" + "familial developmental dysphasia" "Familial developmental dysphasia is a severe form of developmental verbal apraxia characterized by a deficit in spontaneous speech, writing, grammatical judgment and repetition, defective articulation, moderate to severe degree of dyspraxia, a reduced use of consonant clusters, and comprehension delay. Hearing and intelligence are normal." "" + "specific language disorder" "" + "Warburg micro syndrome 1" "Any Warburg micro syndrome in which the cause of the disease is a mutation in the RAB3GAP1 gene." "" + "Warburg micro syndrome" "Micro syndrome is an autosomal recessive disorder caracterised by ocular and neurodevelopmental defects and by microgenitalia. It presents with severe intellectual disability, microcephaly, congenital cataract, microcornea, microphthalmia, agenesis/hypoplasia of the corpus callosum, and hypogenitalism." "" + "rhizomelic chondrodysplasia punctata type 3" "Any rhizomelic chondrodysplasia punctata in which the cause of the disease is a mutation in the AGPS gene." "" + "alkylglycerone-phosphate synthase deficiency" "Any disorder of plasmalogen biosynthesis in which the cause of the disease is a mutation in the AGPS gene." "" + "disorder of sex development-intellectual disability syndrome" "Verloes-Gillerot-Fryns syndrome is a rare association of malformations." "" + "atrioventricular defect-blepharophimosis-radial and anal defect syndrome" "Atrioventricular defect-blepharophimosis-radial and anal defect syndrome is a rare, genetic multiple congenital anomaly syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects." "" + "childhood absence epilepsy" "Childhood absence epilepsy (CAE) is a familial generalized pediatric epilepsy, characterized by very frequent (multiple per day) absence seizures, usually occurring in children between the ages of 4 and 10 years, with, in most cases, a good prognosis." "" + "retinitis pigmentosa 14" "Any retinitis pigmentosa in which the cause of the disease is a mutation in the TULP1 gene." "" + "retinitis pigmentosa 11" "Any retinitis pigmentosa in which the cause of the disease is a mutation in the PRPF31 gene." "" + "CARASIL syndrome" "CARASIL is a hereditary cerebral small vessel disease characterized by early-onset gait disturbances, premature scalp alopecia, ischemic stroke, acute mid to lower back pain and progressive cognitive disturbances leading to severe dementia." "" + "cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2" "Any CADASIL in which the cause of the disease is a mutation in the HTRA1 gene." "" + "HTRA1-related cerebral small vessel disease" "" + "neuronal ceroid lipofuscinosis 8" "Any neuronal ceroid lipofuscinosis in which the cause of the disease is a mutation in the CLN8 gene." "" + "familial caudal dysgenesis" "Familial caudal dysgenesis is a rare, genetic, developmental defect during embryogenesis disorder characterized by varying degrees of caudal dysgenesis, ranging from a single umbilical artery or imperforate anus to full sirenomelia, in several members of the same family. Phenotype includes lumbosacral agenesis, anal atresia or ectopia, genitourinary abnormalities, components of VATER or VACTERL association, and facial dysmorphism (flat facies, abnormal ears, bilateral epicanthic folds, depressed nasal bridge, micrognathia). Additional features reported include cardiovascular (e.g. endocardial cushion defect, hypoplasia of pulmonary artery) and skeletal (kyphosis, hemipelvis) anomalies." "" + "caudal regression-sirenomelia spectrum" "Caudal regression-sirenomelia spectrum is a group of rare genetic developmental defect during embryogenesis disorders characterized by varying degrees of caudal abdomen, pelvic, renal, anorectal, urogenital and/or lumbosacral spine malformations, with or without lower limb fusion. Phenotype is highly variable ranging from minor forms with isolated coccygeal agenesis to severe forms presenting with a single rudimentary limb. Central nervous system anomalies have also been reported." "" + "Bardet-Biedl syndrome 3" "" + "Hirschsprung disease, susceptibility to, 2" "Any Hirschsprung disease in which the cause of the disease is a mutation in the EDNRB gene." "" + "hirschsprung disease, susceptibility to, 5" "" + "pterygium colli-intellectual disability-digital anomalies syndrome" "Pterygium colli-intellectual disability-digital anomalies syndrome is characterized by pterygium colli, digital anomalies (abnormal small thumbs, widened interphalangeal joints, and broad terminal phalanges), and craniofacial abnormalities (brachycephaly, epicanthic folds, angulated eyebrows, upward slanting of the palpebral fissures, ptosis, hypertelorism, and prominent low-set, posteriorly rotated ears). It has been described in a woman and her son, but the manifestations were much less severe in the mother. The son also had intellectual deficit. The inheritance is either X-linked dominant or autosomal dominant." "" + "nanophthalmos 1" "" + "primary hyperparathyroidism" "Hyperfunction of the parathyroid glands resulting in the overproduction of parathyroid hormone. It is caused by parathyroid adenoma, parathyroid hyperplasia, parathyroid carcinoma, and multiple endocrine neoplasia. It is associated with hypercalcemia and hypophosphatemia. Signs and symptoms include weakness, fatigue, nausea, vomiting, constipation, depression, bone pain, osteoporosis, cystic bone lesions, and kidney stones." "" + "gonadal agenesis" "A congenital disorder characterized by the complete absence of gonadal tissue." "" + "autosomal dominant congenital benign spinal muscular atrophy" "Autosomal dominant congenital benign spinal muscular atrophy is a rare distal hereditary motor neuropathy, with a variable clinical phenotype, typically characterized by congenital, non-progressive, predominantly distal, lower limb muscle weakness and atrophy and congenital (or early-onset) flexion contractures of the hip, knee and ankle joints. Reduced or absent lower limb deep tendon reflexes, skeletal anomalies (bilateral talipes equinovarus, scoliosis, kyphoscoliosis, lumbar hyperlordisis), late ambulation, waddling gait, joint hyperlaxity and/or bladder and bowel dysfuntion are usually also associated." "" + "pachygyria-intellectual disability-epilepsy syndrome" "A rare, genetic neurological disorder characterized by the presence of diffuse pachygyria and arachnoid cysts, psychomotor developmental delay and intellectual disability. Seizures (absence, atonic and generalized tonic-clonic) and, on occasion, headache are also associated." "" + "Waardenburg syndrome type 2B" "" + "multiple cutaneous and mucosal venous malformations" "Mucocutaneous venous malformations (VMCMs) are hereditary vascular malformations characterized by the presence of small, multifocal, bluish-purple venous lesions involving the skin and mucosa." "" + "dyslexia, susceptibility to, 2" "" + "epiphyseal dysplasia, multiple, 2" "Any multiple epiphyseal dysplasia in which the cause of the disease is a mutation in the COL9A2 gene." "" + "multiple epiphyseal dysplasia due to collagen 9 anomaly" "Multiple epiphyseal dysplasia due to collagen 9 anomaly is a rare primary bone dysplasia disorder characterized by normal or mild short stature, early-onset pain and/or stiffness of the joints (mainly affecting knees but also elbows, wrists, ankles and fingers, with relative sparing of the hips) and early degenerative joint disease. Other skeletal anomalies (incl. varus or valgus deformities, osteochondritis dissecans, abnormal carpal shape, free articular bodies) and mild myopathy have also been reported." "" + "obsolete macrothrombocytopenia and progressive sensorineural deafness" "" "true" + "exostoses, multiple, type III" "" + "spinocerebellar ataxia type 4" "Spinocerebellar ataxia type 4 (SCA4) is a very rare progressive and untreatable subtype of type I autosomal dominant cerebellar ataxia (ADCA type I) characterized by ataxia with sensory neuropathy." "" + "spinocerebellar ataxia type 5" "Spinocerebellar ataxia type 5 (SCA5) is a rare subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by the early-onset of cerebellar signs with eye movement abnormalities and a very slow disease progression." "" + "palmoplantar keratoderma, Bothnian type" "" + "Tessier number 4 facial cleft" "" + "oblique facial cleft" "" + "oculomaxillofacial dysostosis" "Oculomaxillofacial dysostosis is a rare, genetic bone developmental disorder characterized by short stature, orbital region and ocular abnormalities (e.g. asymmetric orbits, anophthalmia, down-slanted and S-shaped palpebral fissures, sparse eyebrows/eyelashes, abnormal eyelids, ectropion, symblepharon, corneal leukoma), abnormal nose (e.g. broad and abnormally modeled nasal root, bridge and tip, lateral deviation), malar hypoplasia, cleft lip/palate, and oblique facial clefts. Intellectual disability, microcephaly, micrognathia and limb anomalies (e.g. hemimelia, abnormal scapular girdle, brachydactyly, syndactyly, broad halluces) have also been reported." "" + "Lowry-MacLean syndrome" "Lowry-MacLean syndrome is a very rare syndrome characterized by microcephaly, craniosynostosis, glaucoma, growth failure and visceral malformations." "" + "chromosome 8Q12.1-q21.2 deletion syndrome" "" + "Helicobacter pylori infection, susceptibility to" "" + "Toriello-Lacassie-Droste syndrome" "Oculo-ectodermal syndrome (OES) is characterized by the association of epibulbar dermoids and aplasia cutis congenital." "" + "short tarsus-absence of lower eyelashes syndrome" "Short tarsus - absence of lower eyelashes is a very rare syndrome characterized by the association of thin and short upper and lower tarsus and absence of the lower eyelashes." "" + "autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis" "Polycystic kidney disease with tuberous sclerosis (PKD-TSC) is characterised by early-onset and severe polycystic kidney disease with various manifestations of tuberous sclerosis (multiple angiomyolipomas, lymphangioleiomyomatosis and periventricular calcifications of the central nervous system)." "" + "semantic dementia" "Semantic dementia (SD) is a form of frontotemporal dementia (FTD), characterized by the progressive, amodal and profound loss of semantic knowledge (combination of visual associative agnosia, anomia, surface dyslexia or dysgraphia and disrupted comprehension of word meaning) and behavioral abnormalities, attributable to the degeneration of the anterior temporal lobes." "" + "progressive non-fluent aphasia" "Progressive non-fluent aphasia (PNFA) is a form of frontotemporal dementia (FTD), characterized by agrammatism, laborious speech, alexia, and agraphia, frequently accompanied by apraxia of speech (AOS). Language comprehension is relatively preserved." "" + "behavioral variant of frontotemporal dementia" "Behavioral variant of frontotemporal dementia (bv-FTD) is a form of frontotemporal dementia (FTD), characterized by progressive behavioral impairment and a decline in executive function with frontal lobe-predominant atrophy." "" + "macrocephaly-spastic paraplegia-dysmorphism syndrome" "Macrocephaly-spastic paraplegia-dysmorphism syndrome is a rare syndrome of multiple congenital anomalies characterized by macrocephaly (of post-natal onset) with large anterior fontanelle, progressive complex spastic paraplegia, dysmorphic facial features (broad and high forehead, deeply set eyes, short philtrum with thin upper lip, large mouth and prominent incisors), seizures, and intellectual deficit of varying severity. Inheritance appears to be autosomal recessive." "" + "atrioventricular septal defect 3" "Any atrioventricular septal defect in which the cause of the disease is a mutation in the GJA1 gene." "" + "atrioventricular septal defect" "A spectrum of septal defects involving the atrial septum; ventricular septum; and the atrioventricular valves (tricuspid valve; bicuspid valve). These defects are due to incomplete growth and fusion of the endocardial cushions which are important in the formation of two atrioventricular canals, site of future atrioventricular valves." "" + "autosomal recessive nonsyndromic hearing loss 3" "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the MYO15A gene." "" + "type 1 diabetes mellitus 3" "A type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 15q26." "" + "type 1 diabetes mellitus 4" "A type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 11q13." "" + "type 1 diabetes mellitus 5" "Any type 1 diabetes mellitus in which the cause of the disease is a mutation in the SUMO4 gene." "" + "type 1 diabetes mellitus 7" "A type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 2q31." "" + "pseudoaminopterin syndrome" "Pseudoaminopterin syndrome is a developmental anomalies syndrome that resembles the aminopterin embryopathy without history of fetal exposure to aminopterin. It is characterized by skull (craniosynostosis and poorly mineralized cranial vault), dysmorphic (ocular hypertelorism, palpebral fissure anomalies, micrognathia cleft lip and/or high arched palate and small and low set/rotated ears) and limb (brachydactyly, syndactyly and clinodactyly) anomalies, associated with mild-to-moderate intellectual deficit and short stature." "" + "PARC syndrome" "PARC syndrome is a rare genetic developmental defect during embryogenesis syndrome characterized by the association of congenital poikiloderma (P), generalized alopecia (A), retrognathism (R) and cleft palate (C). There have been no further descriptions in the literature since 1990." "" + "rippling muscle disease 1" "" + "inherited rippling muscle disease" "Rippling muscle disease is a rare, genetic, neuromuscular disorder characterized by muscle hyperirritability triggered by stretch, percussion or movement. Patients present wave-like, electrically-silent muscle contractions (rippling), muscle mounding, painful muscle stiffness and muscle hypertrophy, usually with elevated serum creatine kinase." "" + "motor neuron disease with dementia and ophthalmoplegia" "" + "tibial muscular dystrophy" "Tibial muscular dystrophy (TMD) is a distal myopathy characterized by weakness of the muscles of the anterior compartment of lower limbs, appearing in the fourth to seventh decade of life." "" + "autosomal dominant distal myopathy" "Autosomal dominant form of distal myopathy." "" + "qualitative or quantitative defects of titin" "" + "succinic acidemia" "" + "parotid salivary glands, polycystic dysgenetic disease of" "" + "band heterotopia of brain" "" + "enteropathy, familial, with villous edema and immunoglobulin G2 deficiency" "" + "pachydermodactyly, familial" "" + "recessive aplasia cutis congenita of limbs" "Recessive aplasia cutis congenita of limbs is an extremely rare variant of aplasia cutis congenita (ACC) characterized by the congenital absence of skin on the upper and/or lower limbs, with these lesions usually healing spontaneously resulting in a hypotrichotic scar. Recessive ACC of limbs may be associated with junctional epidermolysis bullosa. The inheritance was hypothesized to be autosomal recessive. There have been no further descriptions in the literature since 1980." "" + "Charcot-Marie-Tooth disease type 5" "Hereditary motor and sensory neuropathy type 5 is a rare axonal hereditary motor and sensory neuropathy characterized by slowly progressive distal muscle weakness and atrophy with or without sensory loss resulting in difficulty in walking, foot drop and pes cavus, that may be associated with pyramidal signs (extensor plantar responses, mild increase in tone, brisk tendon reflexes), muscle cramps, pain and spasticity." "" + "hereditary spastic paraplegia 6" "Autosomal dominant spastic paraplegia type 6 (SPG6) is a form of hereditary spastic paraplegia which usually presents in late adolescence or early adulthood as a pure phenotype of lower limb spasticity with hyperreflexia and extensor plantar responses, as well as mild bladder disturbances and pes cavus. Rarely, it can present as a complex phenotype with additional manifestations including epilepsy, variable peripheral neuropathy and/or memory impairment." "" + "CODAS syndrome" "Codas syndrome is a multiple congenital anomalies syndrome characterized by Cerebral, Ocular, Dental, Auricular and Skeletal anomalies." "" + "telangiectasia, hereditary hemorrhagic, type 2" "Any hereditary hemorrhagic telangiectasia in which the cause of the disease is a mutation in the ACVRL1 gene." "" + "mesomelia-synostoses syndrome" "Mesomelia-Synostoses syndrome (MSS) is a syndromal osteochondrodysplasia due to a contiguous gene deletion syndrome, characterized by progressive bowing of forearms and forelegs leading to mesomelia, progressive intracarpal or intratarsal bone fusion and fusion of metacarpal bones with proximal phalanges, ptosis, hypertelorism, abnormal soft palate, congenital heart defect, and ureteral anomalies." "" + "aphalangy-syndactyly-microcephaly syndrome" "Aphalangy-syndactyly-microcephaly is an extremely rare malformation syndrome characterized by the association of partial distal aphalangia with syndactyly, duplication of metatarsal IV, microcephaly, and mild intellectual disability." "" + "pectus excavatum-macrocephaly-dysplastic nails syndrome" "Pectus excavatum-macrocephaly-dysplastic nails syndrome is a rare multiple congenital anomalies syndrome characterized by relative macrocephaly, pectus excavatum, short stature, nail dysplasia, and motor developmental delay (that resolves during childhood). There have been no further descriptions in the literature since 1992." "" + "muscular dystrophy, scapulohumeral" "" + "angiokeratoma corporis diffusum with arteriovenous fistulas" "" + "2q37 microdeletion syndrome" "Deletion 2q37 or monosomy 2q37 is a chromosomal anomaly involving deletion of chromosome band 2q37 and manifests as three major clinical findings: developmental delay, skeletal malformations and facial dysmorphism." "" + "partial deletion of the long arm of chromosome 2" "Chromosome 2q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 2. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 2q deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person." "" + "isolated anterior cervical hypertrichosis" "Anterior cervical hypertrichosis is a rare form of localised hypertrichosis characterised by hair growth near the laryngeal prominence during childhood." "" + "endometriosis of uterus" "The growth of endometrial tissue inside the muscular wall of the uterine corpus. Clinical manifestations include pain, dysmenorrhea, and menorrhagia." "" + "arterial dissection-lentiginosis syndrome" "Arterial dissection-lentiginosis is a rare association syndrome, reported in several members of two families to date, and characterized by arterial dissection, occurring at an early age and presenting with a range of manifestations depending on the vascular territory involved (ex. headache, dysphasia, hemiparesis), in association with cystic medial necrosis and multiple lentigines (brown and black in color and mainly affecting the skin of the trunk and extremities)." "" + "acrocardiofacial syndrome" "Acro-cardio-facial syndrome (ACFS) is a rare genetic disorder characterized by split-hand/split-foot malformation (SHFM), facial anomalies, cleft lip/palate, congenital heart defect (CHD), genital anomalies, and intellectual deficit." "" + "lethal hemolytic anemia-genital anomalies syndrome" "Waters-West syndrome is characterized by the association of lethal non-spherocytic, non-immune hemolytic anemia with abnormalities of the external genitalia (micropenis and hypospadias), flat occiput, dimpled earlobes, deep plantar creases, and increased space between the first and second toes. It has been described only once in two brothers who died a few hours after birth. The second-born infant had massive ascites and hepatosplenomegaly. The mother had two spontaneous abortions (at 6 and 12 weeks gestation) but gave birth to a normal girl, suggesting an autosomal or X-linked recessive mode of inheritance. Although the parents were not known to be consanguineous, they shared a French-Canadian and American Indian ethnic origin." "" + "obsolete mitochondrial myopathy and sideroblastic anemia" "" "true" + "malignant hyperthermia, susceptibility to, 4" "" + "maturity-onset diabetes of the young type 3" "Monogenic diabetes caused by inactivating mutation(s) in the gene HNF1A, encoding hepatocyte nuclear factor 1-alpha." "" + "ABCD syndrome" "An autosomal recessive disease that is characterized by albinism, black lock, cell migration disorder of the neurocytes of the gut and sensorineural deafness and has material basis in a mutation in the endothelin B receptor gene (EDNRB)." "" + "pigment dispersion syndrome" "Pigment-dispersion syndrome is an eye disorder that occurs when pigment granules that normally adhere to the back of the iris (the colored part of the eye) flake off into the clear fluid produced by the eye (aqueous humor). These pigment granules may flow towards the drainage canals of the eye, slowly clogging them and raising the pressure within the eye (intraocular pressure or IOP). This rise in eye pressure can cause damage to the optic nerve (the nerve in the back of the eye that carries visual images to the brain). If the optic nerve becomes damaged, pigment-dispersion syndrome becomes pigmentary glaucoma. This happens in about 30% of cases. Pigment-dispersion syndrome commonly presents between the second and fourth decades, which is earlier than other types of glaucoma. While men and women are affected in equal numbers, men develop pigmentary glaucoma up to 3 times more often than women. Myopia (nearsightedness) appears to be an important risk factor in the development of pigment-dispersion syndrome and is present in up to 80% of affected individuals. The condition may be sporadic or follow an autosomal dominant pattern of inheritance with reduced penetrance. At least one gene locus on chromosome 7 has been identified. Pigment-dispersion syndrome can be treated with eye drops or other medications. In some cases, laser surgery may be performed." "" + "schizophrenia 3" "A schizophrenia that has material basis in an autosomal dominant mutation of SCZD3 on chromosome 6p23." "" + "Autosomal dominant epilepsy with auditory features" "A rare, genetic, familial partial epilepsy disease characterized by focal seizures associated with prominent ictal auditory symptoms, and/or receptive aphasia, presenting in two or more family members and having a relatively benign evolution." "" + "autosomal dominant nocturnal frontal lobe epilepsy 1" "Any autosomal dominant nocturnal frontal lobe epilepsy in which the cause of the disease is a mutation in the CHRNA4 gene." "" + "autosomal dominant nocturnal frontal lobe epilepsy" "Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is a seizure disorder characterized by intermittent dystonia and/or choreoathetoid movements that occur during sleep. The clusters of nocturnal motor seizures are often stereotyped and brief." "" + "intrauterine growth retardation with increased mitomycin c sensitivity" "" + "HEC syndrome" "HEC syndrome is characterised by communicating hydrocephalus, endocardial fibroelastosis (EFE), and congenital cataracts. It has been described in two children, both of whom died a few months after birth (the first as a result of a respiratory infection and the second due to cardiac complications). The aetiology of the syndrome is unknown but a viral or genetic origin has been proposed." "" + "spondyloepiphyseal dysplasia, Reardon type" "Spondyloepiphyseal dysplasia, Reardon type is an extremely rare type of spondyloepiphyseal dysplasia described in several members of a single family to date and characterized by short stature, vertebral and femoral abnormalities, cervical instability and neurologic manifestations secondary to anomalies of the odontoid process." "" + "craniosynostosis, Adelaide type" "" + "craniosynostosis" "Craniosynostosis is defined as the premature fusion of one or more cranial sutures leading to secondary distortion of skull shape resulting in skull deformities with a variable presentation. Craniosynostosis may occur in an isolated setting or as part of a syndrome." "" + "setting-Sun phenomenon, familial benign" "" + "cone-rod dystrophy 1" "" + "orofacial cleft 11" "Any orofacial cleft in which the cause of the disease is a mutation in the BMP4 gene." "" + "cleft lip/palate" "Cleft lip and palate is a fissure type embryopathy extending across the upper lip, nasal base, alveolar ridge and the hard and soft palate." "" + "familial hypertryptophanemia" "Familial hypertryptophanemia is characterized by intellectual deficit associated with behavioral problems: periodic mood swings, exaggerated affective responses and abnormal sexual behavior. Twelve cases have been reported so far. Congenital abnormalities in tryptophan metabolism appear to be responsible for the tryptophanemia and tryptophanuria." "" + "loose anagen syndrome" "Loose anagen syndrome is a rare benign hair disorder affecting predominantly blond females in childhood and characterized by the presence of hair that can be easily and painlessly pulled out. Most of the hair is in the anagen phase and lacks an external epithelial sheath. Hair grows back quickly and the condition improves spontaneously with aging. Loose anagen hair can be associated with other anomalies, such as coloboma." "" + "UV-sensitive syndrome 1" "Any UV-sensitive syndrome in which the cause of the disease is a mutation in the ERCC6 gene." "" + "UV-sensitive syndrome" "UV-sensitive syndrome is a condition that is characterized by sensitivity to the ultraviolet (UV) rays in sunlight. Even a small amount of sun exposure can cause a sunburn in affected individuals. In addition, these individuals can have freckles, dryness, or changes in coloring (pigmentation) on sun-exposed areas of skin after repeated exposure. Some people with UV-sensitive syndrome have small clusters of enlarged blood vessels just under the skin (telangiectasia), usually on the cheeks and nose. Although UV exposure can cause skin cancers, people with UV-sensitive syndrome do not have an increased risk of developing these forms of cancer compared with the general population." "" + "enuresis, nocturnal, 1" "Nocturnal enuresis with at least 3 nightly episodes in children older than 7 years, where the child has always had the disorder." "" + "prolactin-producing pituitary gland adenoma" "Prolactinoma is a usually benign neoplasm of the pituitary gland that results in hyperprolactinemia. The most common clinical manifestations are amenorrhea and infertility in women; and impotence, decreased libido and infertility in men." "" + "fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement" "Any congenital fibrosis of extraocular muscles in which the cause of the disease is a mutation in the TUBB3 gene." "" + "Caroli disease" "Caroli disease (CD) is a rare congenital liver disease characterized by non-obstructive cystic dilatations of the intra-hepatic and rarely extra-hepatic bile ducts." "" + "carnitine palmitoyl transferase II deficiency, severe infantile form" "The severe infantile form of carnitine palmitoyltransferase II (CPT II) deficiency, an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the early-onset form of the disease." "" + "autosomal dominant nonsyndromic hearing loss 4A" "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the MYH14 gene." "" + "polycystic kidney disease 3 with or without polycystic liver disease" "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the GANAB gene." "" + "chondrocalcinosis 1" "" + "epilepsy, idiopathic generalized, susceptibility to, 1" "" + "varicella, severe recurrent" "" + "nasal dermoid cyst" "A dermoid cyst that involves the nose." "" + "facial dermoid cyst" "Facial dermoid cyst is a rare, benign cutaneous neoplasm containing keratinized epithelium and dermal derivatives, such as hair follicles, sweat and sebaceous glands, smooth muscle or fibroadipose tissue, which usually manifests as a firm, nonpulsatile mass, often with a sinus opening or a hair-bearing punctum, most commonly located in the periorbital and nasal area." "" + "Satoyoshi syndrome" "Satoyoshi syndrome is a rare syndrome characterized by progressive, painful, intermittent muscle spasms. These muscle spasms usually start between 6-15 years old. Other symptoms of the syndrome may include diarrhea and an inability of the digestive tract to absorb certain foods, especially carbohydrates (malabsorption). People affected by Satoyoshi syndrome may also have loss of hair on the head and body (alopecia universalis), short stature, and skeletal abnormalities. Women with Satoyoshi syndrome may not have a menstrual cycle (amenorrhea). In all published cases, only one person in a family has Satoyoshi syndrome. This is even true when the person with Satoyoshi syndrome comes from a large family. Satoyoshi syndrome seems to be more common in Japan. The exact cause of the syndrome is unknown, but some researchers think it may be an autoimmune disease. Satoyoshi syndrome can be diagnosed when a doctor sees symptoms that are consistent with the syndrome. The diagnosis can be confirmed by a variety of laboratory tests. Treatment for Satoyoshi syndrome includes medication to suppress the immune system." "" + "proximal myopathy with focal depletion of mitochondria" "" + "non-dystrophic myopathy" "A group of rare skeletal muscle ion-channel disorders caused by genetic mutations in the sodium and chloride channel genes. It is characterized by altered membrane excitability resulting in skeletal muscle stiffness. This group of myotonias is distinct from myotonic dystrophy because of the absence of systemic features or progressive weakness." "" + "D-2-hydroxyglutaric aciduria" "D-2-hydroxyglutaric aciduria (D-2-HGA) is a rare clinically variable neurological form of 2-hydroxyglutaric aciduria characterized biochemically by elevated D-2-hydroxyglutaric acid (D-2-HG) in the urine, plasma and cerebrospinal fluid." "" + "velo-facial-skeletal syndrome" "Velo-facial-skeletal syndrome is a very rare multiple congenital anomalies syndrome characterized by short stature, facial dysmorphism (elongated face, hypertelorism, broad and high nasal bridge, mild epicanthus, posteriorly angulated ears, narrow and high-arched palate), skeletal anomalies (mesomelic brachymelia, short broad hands, prominent finger pads, short stubby thumbs, hyperextensibility of small joints, small feet), hypernasality and normal intelligence. Delayed bone age has also been reported." "" + "familial hypocalciuric hypercalcemia 3" "Any familial hypocalciuric hypercalcemia in which the cause of the disease is a mutation in the AP2S1 gene." "" + "orofacial cleft 3" "" + "isolated cleft lip" "Isolated cleft lip is a fissure type embryopathy extending from the upper lip to the nasal base." "" + "dwarfism, familial, with muscle spasms" "" + "craniosynostosis 4" "Any craniosynostosis in which the cause of the disease is a mutation in the ERF gene." "" + "anophthalmia plus syndrome" "Anophthalmia plus syndrome is a very rare multiple congenital anomaly syndrome characterized by the presence of anophthalmia or severe microphthalmia, cleft lip/palate, facial cleft and sacral neural tube defects, along with various additional anomalies including congenital glaucoma, iris coloboma, primary hyperplastic vitreous, hypertelorism, low-set ears, clinodactyly, choanal atresia/stenosis, dysgenesis of sacrum, tethering of spinal cord, syringomyelia, hypoplasia of corpus callosum, cerebral ventriculomegaly and endocrine abnormalities. An autosomal recessive inheritance has been suggested." "" + "vitamin D-dependent rickets, type 2B" "Rickets caused by a post-receptor defect in the vitamin D signaling pathway producing vitamin D resistance due to constitutive overexpression of a nuclear ribonucleoprotein that competes with the vitamin D receptor-retinoid X receptor dimer binding with DNA vitamin D response elements. This condition has a similar phenotype to vitamin D receptor deficiency rickets including elevated 1,25-dihydroxyvitamin D (calcitriol) concentrations." "" + "progressive bifocal chorioretinal atrophy" "Progressive bifocal chorioretinal atrophy (PBCRA) is an early-onset chorioretinal dystrophy characterized by large atrophic macular and nasal retinal lesions, nystagmus, myopia, poor vision, and slow disease progression." "" + "autosomal recessive nonsyndromic hearing loss 4" "An autosomal recessive nonsyndromic deafness that has material basis in mutation in the SLC26A4 gene on chromosome 7q22." "" + "obsolete DFNB5" "" "true" + "obsolete neuronopathy, distal hereditary motor, type 5A" "" "true" + "frontotemporal dementia and/or amyotrophic lateral sclerosis 7" "Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the CHMP2B gene." "" + "isoproterenol-mediated vasodilatation" "" + "T-B+ severe combined immunodeficiency due to JAK3 deficiency" "Severe combined immunodeficiency (SCID) T-B+ due to JAK3 deficiency is a form of SCID characterized by severe and recurrent infections, associated with diarrhea and failure to thrive." "" + "low phospholipid associated cholelithiasis" "Low phospholipid associated cholelithiasis is a rare genetic hepatic disease characterized by cholesterol gallstones and intrahepatic stones developing before the age of 40 years." "" + "inherited susceptibility to asthma" "" + "nocturnal enuresis, 2" "Nocturnal enuresis where the child has been dry for at least 6 months but enuresis has recurred." "" + "obsolete eukaryotic translation elongation factor 1 alpha-1-like 14" "" "true" + "schizophrenia 4" "A schizophrenia that has material basis in an autosomal dominant mutation of PRODH on chromosome 22q11.21." "" + "mitochondrial import-stimulating factor" "" + "retinitis pigmentosa 17" "Any retinitis pigmentosa in which the cause of the disease is a mutation in the CA4 gene." "" + "hypertrophic cardiomyopathy 6" "Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the PRKAG2 gene." "" + "Budd-Chiari syndrome" "Budd-Chiari syndrome (BCS) is caused by obstruction of hepatic venous outflow involving either the hepatic veins or the terminal segment of the inferior vena cava." "" + "cataract 10 multiple types" "Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CRYBA1 gene." "" + "Charcot-Marie-Tooth disease type 2B" "Autosomal dominant Charcot-Marie-Tooth disease type 2B (CMT2B) is a severe form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2B onset, in the 2nd or 3rd decade, is characterized by ulcerations and infections of feet. Symmetric and distal weakness develops mostly in the legs together with a severe symmetric distal sensory loss, tendon reflexes are only reduced at ankles and foot deformities, including pes cavus or planus and hammer toes, appear in childhood." "" + "type 1 diabetes mellitus 8" "A type 1 diabetes mellituss that has material basis in mutation of the locus at chromosome 6q25-q27." "" + "dilated cardiomyopathy 1B" "A dilated cardiomyopathy that has material basis in variation in the chromosome region 9q13." "" + "hereditary hyperferritinemia with congenital cataracts" "Hereditary hyperferritinemia with congenital cataracts is characterized by the association of early onset (although generally absent at birth) cataract with persistently raised plasma ferritin concentrations in the absence of iron overload." "" + "Fanconi anemia complementation group E" "Fanconi anemia caused by mutations of the FANCE gene. This is a protein coding gene. It is required for the nuclear accumulation of FANCC and provides a critical bridge between the FA complex and FANCD2." "" + "Wiskott-Aldrich syndrome, autosomal dominant form" "" + "ectodermal dysplasia with intellectual disability and syndactyly" "" + "enamel hypoplasia, cataracts, and aqueductal stenosis" "" + "agonadism, 46,XY, with intellectual disability, short stature, retarded bone age, and multiple extragenital malformations" "" + "cardiac arrhythmia, ankyrin-B-related" "" + "van den Ende-Gupta syndrome" "Van den Ende-Gupta syndrome is a very rare syndrome characterized by blepharophimosis, arachnodactyly, joint contractures, and characteristic dysmorphic features." "" + "protocadherin 3" "" + "obesity due to prohormone convertase I deficiency" "Prohormone convertase-I deficiency is the rarest form of monogenic obesity. The disorder is characterised by severe childhood obesity, hypoadrenalism, reactive hypoglycaemia, and elevated circulating levels of certain prohormones." "" + "genetic non-syndromic obesity" "" + "diffuse nonepidermolytic palmoplantar keratoderma" "A rare, genetic, isolated diffuse palmoplantar keratoderma characterized by diffuse, mild to thick, finely demarcated hyperkeratosis of palms and soles. Additional clinical findings include knuckle pad-like keratoses on fingers, hyperkeratosis of umbilicus and areolae, diffuse dry skin, hyperhidrosis, hangnails and frequent fungal infections. Histological examination of lesions reveals orthokeratotic hyperkeratosis, acanthosis, hypergranulosis, and mild lymphocyte infiltrations in the upper dermis with no evidence of epidermolysis." "" + "autosomal dominant nonsyndromic hearing loss 6" "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the WFS1 gene." "" + "epiphyseal dysplasia, multiple, 3" "Any multiple epiphyseal dysplasia in which the cause of the disease is a mutation in the COL9A3 gene." "" + "autosomal recessive nonsyndromic hearing loss 6" "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the TMIE gene." "" + "achondrogenesis type IB" "Achondrogenesis type 1B (ACG1B), a form of achondrogenesis, is a rare lethal skeletal dysplasia characterized by severe micromelia with very short fingers and toes, a flat face, a short neck, thickened soft tissue around the neck, hypoplasia of the thorax, protuberant abdomen, a hydropic fetal appearance and distinctive histological features of the cartilage." "" + "autosomal recessive nonsyndromic hearing loss 7" "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the TMC1 gene." "" + "glaucoma 3, primary infantile, B" "" + "cone-rod dystrophy 5" "Any cone-rod dystrophy in which the cause of the disease is a mutation in the PITPNM3 gene." "" + "cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies" "" + "infundibulopelvic stenosis-multicystic kidney syndrome" "Infundibulopelvic stenosis-multicystic kidney syndrome is a rare, genetic renal malformation syndrome characterized by variable degrees of malformation in the pelvicalyceal system (including unilateral or bilateral calyceal dilatation, infundibular stenosis, hypoplasia or stenosis of the renal pelvis) which lead to multicystic kidney. Clinically it exhibits abdominal, lumbar or flank pain, recurrent urinary tract infections, hypertension, proteinuria and often progresses to renal insufficiency. Calyceal dilatation and hydronephrosis are frequently seen on imaging." "" + "hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome" "This syndrome is characterised principally by Sprengel anomaly (upward displacement of the scapula) and hydrocephaly. Other anomalies such as psychomotor retardation, psychosis, brachydactyly, and costovertebral dysplasia may also be present." "" + "autosomal dominant nonsyndromic hearing loss 5" "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the GSDME gene." "" + "nephrotic syndrome, type 2" "Any nephrotic syndrome in which the cause of the disease is a mutation in the NPHS2 gene." "" + "familial idiopathic steroid-resistant nephrotic syndrome" "Familial idiopathic steroid-resistant nephrotic syndrome is characterized by a nephrotic syndrome with often early onset." "" + "arrhythmogenic right ventricular dysplasia 2" "Any familial isolated arrhythmogenic right ventricular dysplasia in which the cause of the disease is a mutation in the RYR2 gene." "" + "KRT14-related epidermolysis bullosa simplex" "KRT14-related epidermolysis bullosa simplex (EBS-AR KRT14) is a basal subtype of epidermolysis bullosa simplex EBS characterized by generalized or, less frequently, localized acral blistering." "" + "Brody myopathy" "Brody myopathy is a hereditary condition that affects the skeletal muscles (muscles used for movement). Symptoms typically begin in childhood and are characterized by muscle cramping and stiffening (myopathy) after exercise or other strenuous activity. These symptoms can worsen in cold temperatures and are usually painless, however, some individuals may have mild discomfort. Some cases of Brody myopathy are caused by mutations in the ATP2A1 gene. The cause of Brody myopathy for individuals not found to have an ATP2A1 gene mutation remains unknown. Brody myopathy is usually inherited in an autosomal recessive manner with a few reported cases of autosomal dominant inheritance. While there is no one treatment for Brody myopathy, certain muscle relaxants, such as dantrolene and blood pressure medications called calcium channel blockers, such as verapamil may be useful. Some researchers suggest that individuals found to have an ATP2A1 gene mutation have a slightly different disorder in which symptoms appear at an earlier age. They use the disease term 'Brody disease' for individuals with an identifiedmutation versus 'Brody syndrome' for those that do not. More research may help clarify whether these are two different disorders or a variation of the same disorder." "" + "qualitative or quantitative defects of protein SERCA1" "" + "portal vein, cavernous transformation of" "" + "Timothy syndrome" "Timothy syndrome is a multi-system disorder characterized by cardiac, hand, facial and neurodevelopmental features that include QT prolongation, webbed fingers and toes, flattened nasal bridge, low-set ears, small upper jaw, thin upper lip, and characteristic features of autism or autistic spectrum disorders." "" + "midline malformations, multiple, with limb abnormalities and hypopituitarism" "" + "absent tibia-polydactyly-arachnoid cyst syndrome" "Tibia absent - polydactyly - arachnoid cyst syndrome is a very rare constellation of multiple anomalies, including absence or hypoplasia of the tibia." "" + "ichthyosis-intellectual disability syndrome with large keratohyalin granules in the skin" "" + "dystonia 9" "A dystonia characterized by autosomal dominant inheritance of paroxysmal choreoathetosis and progressive spastic paraplegia, episodes are often precipitated by alcohol, fatigue, or emotional stress that has material basis in heterozygous mutation in the SLC2A1 gene on chromosome 1p34." "" + "paroxysmal dystonia" "" + "Usher syndrome type 1D" "A form of Usher syndrome type I that is caused by homozygous or compound heterozygous mutation in the gene encoding cadherin-23 (CDH23) on chromosome 10q22. It is inherited in an autosomal recessive manner." "" + "epilepsy, familial adult myoclonic, 1" "" + "benign adult familial myoclonic epilepsy" "Benign adult familial myoclonic epilepsy (BAFME) is an inherited epileptic syndrome characterized by cortical hand tremors, myoclonic jerks and occasional generalized or focal seizures with a non-progressive or very slowly progressive disease course, and no signs of early dementia or cerebellar ataxia." "" + "autosomal recessive nonsyndromic hearing loss 9" "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the OTOF gene." "" + "autosomal recessive nonsyndromic hearing loss 8" "An autosomal recessive nonsyndromic deafness that has material basis in mutation in the TMPRSS3 gene on chromosome 21q22." "" + "aplasia cutis-myopia syndrome" "Aplasia cutis-myopia syndrome is characterised by the association of aplasia cutis congenita with high myopia, congenital nystagmus and cone-rod dysfunction. It has been described in two siblings (brother and sister). Transmission is autosomal dominant." "" + "Mayer-Rokitansky-Küster-Hauser syndrome type 2" "Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 2, a form of MRKH syndrome, is characterized by congenital aplasia of the uterus and upper 2/3 of the vagina that is associated with at least one other malformation such as renal, vertebral, or, less commonly, auditory and cardiac defects. The acronym MURCS (MCllerian duct aplasia, Renal dysplasia, Cervical Somite anomalies) is also used." "" + "obsolete Cd4/CD8 T-cell ratio" "" "true" + "laterality defects, autosomal dominant" "" + "Ayme-Gripp syndrome" "" + "Harrod syndrome" "Harrod syndrome is characterized by the association of intellectual deficit, facial dysmorphism (a highly arched palate, pointed chin, and small mouth, hypotelorism, a long nose and large protruding ears), arachnodactyly, hypogenitalism (undescended testes and hypospadias) and failure to thrive." "" + "micromelic dwarfism, Fryns type" "True" + "Charcot-Marie-Tooth disease type 1C" "Any Charcot-Marie-Tooth disease type 1 in which the cause of the disease is a mutation in the LITAF gene." "" + "hereditary hemorrhagic telangiectasia type 3" "" + "supranuclear palsy, progressive, 1" "Classical progressive supranuclear palsy, also known as Richardson's syndrome, is the most common clinical variant of progressive supranuclear palsy (PSP), a rare late-onset neurodegenerative disease characterized by postural instability, progressive rigidity, supranuclear gaze palsy and mild dementia." "" + "progressive supranuclear palsy" "Progressive supranuclear palsy (PSP) is a rare late-onset neurodegenerative disease characterized by supranuclear gaze palsy, postural instability, progressive rigidity, and mild dementia." "" + "ALG3-CDG" "A form of congenital disorders of N-linked glycosylation characterized by severe neurological involvement, including hypotonia, developmental delay, intellectual disability, postnatal microcephaly, and progressive brain and cerebellar atrophy. Epilepsy with hypsarrythmia is frequently reported. Additional features that may be observed include failure to thrive, arthrogryposis multiplex congenita (AMC), vision impairment (optic atrophy, iris coloboma) and facial dysmorphism (hypertelorism with a broad nasal bridge, large and thick ears, thin lips, micrognathia). The disease is caused by loss of function mutations of the gene ALG3 (3q27.3)." "" + "fallot complex-intellectual disability-growth delay syndrome" "Fallot complex - intellectual deficit - growth delay is a rare disorder characterized by tetralogy of Fallot, minor facial anomalies, and severe intellectual deficiency and growth delay." "" + "guanylate cyclase 2E" "" + "Brugada syndrome 1" "Any Brugada syndrome in which the cause of the disease is a mutation in the SCN5A gene." "" + "Brugada syndrome" "A genetically heterogeneous condition characterized by complete or incomplete right bundle branch block accompanied by ST elevation in leads V1-V3. There is a high incidence of ventricular arrhythmia that may result in sudden death." "" + "neuropathy, hereditary motor and sensory, type 6A" "Any hereditary motor and sensory neuropathy type 6 in which the cause of the disease is a mutation in the MFN2 gene." "" + "hereditary motor and sensory neuropathy type 6" "" + "dilated cardiomyopathy 1E" "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the SCN5A gene." "" + "lissencephaly type 3-metacarpal bone dysplasia syndrome" "This syndrome is characterised by severe microcephaly, agyria, agenesis of the corpus callosum, cerebellar hypoplasia, facial dysmorphology and epiphyseal stippling of the metacarpal bones. It has been described in two brothers. The syndrome is transmitted as an autosomal recessive trait and may be an allelic variant of Neu-Laxova syndrome and Lissencephaly type III with cystic dilations of the cerebellum and foetal akinesia sequence." "" + "trisomy 18-like syndrome" "" + "hereditary spastic paraplegia 9A" "" + "autosomal dominant spastic paraplegia type 9" "Any autosomal dominant complex spastic paraplegia in which the cause of the disease is a mutation in the ALDH18A1 gene." "" + "diaphragmatic defect-limb deficiency-skull defect syndrome" "This syndrome is characterized by the association of classical diaphragmatic hernia (Bochdalek type) with severe lung hypoplasia, and variable associated malformations. It has been reported only once in four successive foetuses (two females and two males) born to a nonconsanguineous couple. The spectrum of malformations is wide and includes, besides diaphragmatic hernia and hypoplastic lungs (present in the four foetuses), omphalocele (one case), severe limb hypoplasia (two cases), syndactyly of the toes (two cases), extra spleen (one case), and an ossification defect of the skull (one case). Inheritance seems either to be autosomal recessive or due to a gonadal mosaicism in one parent. Prenatal diagnosis of diaphragmatic hernia and severe lung hypoplasia detected on ultrasonography made the parents opt for termination of the four pregnancies." "" + "cleft lip/palate-intestinal malrotation-cardiopathy syndrome" "Cleft lip/palate - intestinal malrotation - cardiopathy is a multiple congenital anomaly syndrome described in 5 patients to date, characterized by flat face, hypertelorism, flat occiput, upward slanting palpebral fissures, cleft palate, micrognathia, short neck, and severe congenital heart defects which were lethal in 3 of the 5 patients reported. Malrotation of the intestine, bilateral clinodactyly, bilobed tongue, short fourth metatarsals and bifid thumbs were reported in individual cases. There have been no further descriptions in the literature since 1997." "" + "muscular dystrophy, congenital, with severe central nervous system atrophy and absence of large myelinated fibers" "" + "Matthew-Wood syndrome" "Matthew-Wood syndrome is a rare clinical entity including as main characteristics anophthalmia or severe microphthalmia, and pulmonary hypoplasia or aplasia." "" + "skeletal dysplasia-epilepsy-short stature syndrome" "Skeletal dysplasia-epilepsy-short stature syndrome is characterized by moderate to severe intellectual deficit, seizures, short stature, and skeletal dysplasia. It has been described in seven patients. Other manifestations can be associated (retinal abnormalities, brachydactyly, prognathism, dental malocclusion). It is transmitted as an autosomal recessive trait." "" + "African iron overload" "African iron overload is a rare disorder described in sub-Saharan African populations and is characterized by iron overload due to excess dietary iron intake and possibly genetic factors, leading to hepatic portal fibrosis and micronodular cirrhosis." "" + "autosomal dominant hypocalcemia 1" "Any autosomal dominant hypocalcemia in which the cause of the disease is a mutation in the CASR gene." "" + "autosomal dominant hypocalcemia" "Autosomal dominant hypocalcemia (AD hypocalcemia) is a disorder of calcium homeostasis characterized by variable degrees of hypocalcemia with abnormally low levels of parathyroid hormone (PTH) and persistant normal or elevated calciuria." "" + "pleuropulmonary blastoma" "A malignant neoplasm affecting the lungs and/or the pleura. Pleuropulmonary blastoma is seen in children. Microscopically, the tumor may show features of chondrosarcoma, leiomyosarcoma, rhabdomyosarcoma, liposarcoma, or undifferentiated sarcoma. In approximately 25% of patients with pleuropulmonary blastoma, there are other lesions or neoplasms that may affect patients or their families, including lung or kidney cysts, and ovarian or testicular neoplasms. Heterozygous germline mutations in DICER1 gene have been identified in families harboring pleuropulmonary blastomas." "" + "cataract 24" "A cataract that has material basis in variation in the region 17p13." "" + "early-onset anterior polar cataract" "" + "type 1 diabetes mellitus 11" "A type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 14q24.3-q31." "" + "Naxos disease" "Naxos disease is a recessively inherited condition with arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) and a cutaneous phenotype, characterised by peculiar woolly hair and palmoplantar keratoderma." "" + "arrhythmogenic right ventricular cardiomyopathy" "Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a heart muscle disease that consists in progressive dystrophy of primarily the right ventricular myocardium with fibro-fatty replacement and ventricular dilation, and that is clinically characterized by ventricular arrhythmias and a risk of sudden cardiac death." "" + "syndrome with woolly hair" "True" + "cardioectodermal syndrome" "Cardioectodermal syndromes are those in which phenotypic manifestations occur in the heart, skin, and/or hair. Variation in the genes of interest may occur in both an autosomal dominant inheritance pattern, or in an autosomal recessive inheritance pattern which may result in an earlier and/or more severe phenotypic presentation." "" + "brachyolmia-amelogenesis imperfecta syndrome" "An exceedingly rare form of brachyolmia, characterized by mild platyspondyly, broad ilia, elongated femoral necks with coxa valga, scoliosis, and short trunked short stature associated with amelogenesis imperfecta of both primary and permanent dentition." "" + "alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome" "This syndrome is characterized by the association of total alopecia (present at birth), mild intellectual deficit and hypergonadotropic hypogonadism." "" + "osteoporosis-oculocutaneous hypopigmentation syndrome" "Osteoporosis-oculocutaneous hypopigmentation syndrome is characterised by osteoporosis and congenital oculocutaneous hypopigmentation. Three cases have been described in the literature. The mode of inheritance appears to be autosomal recessive." "" + "neuronal intestinal dysplasia, type B" "" + "Potocki-Shaffer syndrome" "Potocki-Shaffer syndrome is characterized by multiple exostoses, parietal foramina, enlargement of the anterior fontanelle and occasionally intellectual deficit and mild cranio-facial anomalies. To date, 23 individuals from 14 families have been reported. The syndrome is caused by contiguous gene deletions on the short arm of chromosome 11 (11p11.2)." "" + "hereditary mixed polyposis syndrome" "Hereditary mixed polyposis syndrome (HMPS) describes an autosomal dominantly inherited large-bowel disease characterized by the presence of a mixture of hyperplastic, atypical juvenile and adenomatous polyps that are associated with an increased risk of developing colorectal cancer if left untreated." "" + "dermatitis herpetiformis, familial" "Dermatitis herpetiformis is a rare, chronic, skin disorder characterized by groups of severely itchy blisters and raised skin lesions. These are more common on the knees, elbows, buttocks and shoulder blades. The slow onset of symptoms usually begins during adulthood, but children can also be affected. Other symptoms mayinclude fluid-filled sores; red lesions that resemble hives; and itchiness, rednessand burning. The exact cause of this disease is not known,but it is frequently associated with the inability to digest gluten. People with this disease are typically treated with the drug dapsone." "" + "Cayman type cerebellar ataxia" "Cerebellar ataxia, Cayman type is characterised by psychomotor retardation, hypotonia and cerebellar dysfunction (nystagmus, ataxic gait, truncal ataxia, dysarthric speech and intention tremor), associated with cerebellar hypoplasia." "" + "diabetes mellitus, noninsulin-dependent, 1" "" + "autosomal recessive limb-girdle muscular dystrophy type 2F" "Autosomal recessive limb-girdle muscular dystrophy type 2F (LGMD2F) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a variable age of onset of progressive weakness and wasting of the proximal skeletal muscles of the shoulder and pelvic girdles, frequently associated with progressive respiratory muscle impairment and cardiomyopathy. Calf hypertrophy, muscle cramps and elevated serum creatine kinase levels are also observed. Neuropsychomotor development is usually normal." "" + "qualitative or quantitative defects of delta-sarcoglycan" "" + "myeloid tumor suppressor" "" + "epithelial basolateral chloride conductance regulator, rabbit, homolog of" "" + "autosomal dominant nonsyndromic hearing loss 10" "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the EYA4 gene." "" + "autosomal dominant nonsyndromic hearing loss 11" "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the MYO7A gene." "" + "type 1 diabetes mellitus 13" "A type 1 diabetes mellituss that has material basis in mutation of the locus at chromosome 2q34." "" + "odontomicronychial dysplasia" "Odontomicronychial dysplasia is a rare, hereditary ectodermal dysplasia syndrome characterized by involvement of teeth and nails - precocious eruption and shedding of deciduous dentition, precocious eruption of secondary dentition with short, rhomboid roots, and short, thin, slow growing nails." "" + "RASopathy" "Developmental syndromes caused by germline mutations (or in rare cases by somatic mosaicism) in genes that alter the Ras subfamily and mitogen-activated protein kinases that control signal transduction." "" + "porencephaly-cerebellar hypoplasia-internal malformations syndrome" "Porencephaly-cerebellar hypoplasia-internal malformations syndrome is rare central nervous system malformation syndrome characterized by bilateral porencephaly, absence of the septum pellucidum and cerebellar hypoplasia with absent vermis. Additionally, dysmorphic facial features (hypertelorism, epicanthic folds, high arched palate, prominent metopic suture), macrocephaly, corneal clouding, situs inversus, tetralogy of Fallot, atrial septal defects and/or seizures have been observed." "" + "renal dysplasia, cystic, susceptibility to" "" + "cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome" "Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss (CAPOS syndrome) is a rare autosomal dominant neurological disorder characterized by early onset cerebellar ataxia, associated with areflexia, progressive optic atrophy, sensorineural deafness, a pes cavus deformity, and abnormal eye movements." "" + "atrophia maculosa varioliformis cutis, familial" "" + "spinal dysplasia, Anhalt type" "" + "ectodermal dysplasia with natal teeth, Turnpenny type" "Ectodermal dysplasia with natal teeth, Turnpenny type is characterised by hypo- or oligodontia and acanthosis nigricans. It has been described in four generations of one family. Onset generally occurs during adolescence. Some patients were born with multiple teeth. Hair anomalies (sparse body and scalp hair) were also reported. Inheritance is autosomal dominant." "" + "Martinez-Frias syndrome" "" + "myelodysplasia, immunodeficiency, facial dysmorphism, short stature, and psychomotor delay" "" + "ectrodactyly of lower limbs, congenital heart defect, and micrognathia" "" + "MMEP syndrome" "A congenital syndromic form of split-hand/foot malformation (SHFM). It is characterized by microcephaly, microphthalmia, ectrodactyly of the lower limbs and prognathism. Intellectual deficit has been reported. MMEP syndrome is considered to be a very rare condition, although the exact prevalence remains unknown. The etiology is not completely understood. Disruption of the sorting nexin 3 gene (SNX3; 6q21) has been shown to play a causative role in MMEP, although this was not confirmed in recent studies." "" + "short stature, Brussels type" "This syndrome is characterised by short stature presenting in the neonatal period associated with osteochondrodysplastic lesions and facial dysmorphism." "" + "deafness-epiphyseal dysplasia-short stature syndrome" "This syndrome is characterised by sensorineural deafness, short stature, femoral epiphyseal dysplasia, umbilical and inguinal hernias and developmental delay (growth retardation and mild intellectual deficit)." "" + "epilepsy-microcephaly-skeletal dysplasia syndrome" "Epilepsy-microcephaly-skeletal dysplasia syndrome is characterized by the association of moderate to severe intellectual deficit, microcephaly, epilepsy, coarse face, hirsutism and skeletal abnormalities (scoliosis and retarded bone development). It has been described only once, in two sibs (one male and one female). This syndrome is likely to be an autosomal recessive condition and thus parents should be informed of a 25% risk of recurrence for other children." "" + "fine-Lubinsky syndrome" "Fine-Lubinsky syndrome is characterised by psychomotor delay, brachycephaly with flat face, small nose, microstomia, cleft palate, cataract, hearing loss, hypoplastic scrotum and digital anomalies." "" + "microcephaly-cardiac defect-lung malsegmentation syndrome" "Microcephaly - cardiac defect - lung malsegmentation syndrome is a very rare syndrome characterized by the combination of microcephaly, heart defects, renal hypoplasia, lung segmentation defects and cleft palate." "" + "lethal short-limb skeletal dysplasia, Al Gazali type" "" + "amelia cleft lip palate hydrocephalus iris coloboma" "" + "intellectual disability-sparse hair-brachydactyly syndrome" "Intellectual disability-sparse hair-brachydactyly syndrome is a very rare condition of unknown etiology consisting of short stature, hypotrichosis, brachydactyly with cone-shaped epiphyses, epilepsy and severe mental delay. After the initial delineation of this syndrome by Nicolaides and Baraitser in 1993, only five more patients were published in the literature up to now." "" + "autosomal recessive amelia" "Autosomal recessive amelia is characterised by the absence of the upper limbs and severe underdevelopment of the lower limbs. Minor facial abnormalities (depressed nasal root, upturned nose, infra-orbital creases, prominent cheeks and micrognathia) were also reported. The syndrome has been described in three foetuses born to non consanguineous parents." "" + "distal monosomy 10p" "Distal monosomy 10p is a rare chromosomal disorder in which the tip of the short arm (p arm) of chromosome 10 is deleted resulting in a variable phenotype depending on the size of the deletion. The deletion may involve only the terminal 10p15 band, or extend towards the centromere to bands 10p14 or 10p13." "" + "Wilms tumor 4" "" + "autosomal dominant nonsyndromic hearing loss 9" "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the COCH gene." "" + "holoprosencephaly-craniosynostosis syndrome" "Holoprosencephaly-craniosynostosis syndrome is a rare developmental defect during embryogenesis syndrome characterized by the association of primary craniosynostosis (usually involving the coronal and metopic sutures) with holoprosencephaly (ranging from alobar to, most commonly, semilobar) and various skeletal anomalies (typically, hand and feet anomalies including fifth digit clinodactyly, hypoplastic phalanges and cone-shaped epiphyses, small vertebral bodies, scoliosis, coxa valga and/or flexion deformities of hips). Craniofacial asymmetry, microcephaly, brachy/plagiocephaly, short stature and psychomotor delay are additional common features." "" + "chorea, remitting, with nystagmus and cataract" "" + "aprosencephaly cerebellar dysgenesis" "" + "midline cerebral malformation" "" + "hidrotic ectodermal dysplasia, Christianson-Fourie type" "Hidrotic ectodermal dysplasia, Christianson-Fourie type is a rare ectodermal dysplasia syndrome characterized by tricho- and onychodysplasia in association with cardiac rhythm abnormalities. Patients present with sparse scalp hair and eyelashes, absent or sparse eyebrows, dystrophic thickened nails (on fingers distal end may be lifted from the nail bed) and supraventricular tachicardia or sinus bradicardia." "" + "lethal chondrodysplasia, Seller type" "" + "Hunter-McAlpine craniosynostosis" "Hunter-McAlpine craniosynostosis is characterised by craniosynostosis, intellectual deficit, short stature, facial dysmorphism (oval face with almond-shaped palpebral fissures, droopy eyelids and a small nose) and minor distal anomalies. It has been described in 10 patients. Transmission is autosomal dominant and the syndrome is associated with partial duplication of the long arm of chromosome 5 (5q35-5qter)." "" + "Charcot-Marie-Tooth disease type 4B1" "Charcot-Marie-Tooth disease type 4B1 (CMT4B1) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by an early childhood-onset of severe, demyelinating sensorimotor neuropathy, various degrees of complex myelin outfoldings seen on peripheral nerve biopsy, very slow, and often undetectable, nerve conduction velocities, and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, sensory loss, and frequent pes cavus). Other reported features include facial weakness, vocal cord paresis, respiratory difficulties, and skeletal deformities (e.g. chest deformities, claw hands, pes equinovarus)." "" + "autosomal recessive nonsyndromic hearing loss 12" "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has material basis in mutation in the CDH23 gene on chromosome 10q22." "" + "type 1 diabetes mellitus 12" "Any type 1 diabetes mellitus in which the cause of the disease is a mutation in the CTLA4 gene." "" + "cervical ribs, Sprengel anomaly, anal atresia, and urethral obstruction" "" + "van Maldergem syndrome 1" "Any van Maldergem syndrome in which the cause of the disease is a mutation in the DCHS1 gene." "" + "van Maldergem syndrome" "Cerebrofacioarticular syndrome is a rare multiple congenital anomalies syndrome characterized by mild to severe intellectual disability, a distinctive facial gestalt (blepharophimosis, maxillary hypoplasia, telecanthus, microtia and atresia of the external auditory meatus) as well as skeletal and articular abnormalities (e.g. camptodactyly of the fingers, cutaneous syndactyly, talipes equinovarus, flexion contractures of the proximal interphalangeal joints, hip or elbow subluxation, joint laxity). Affected individuals also present neonatal hypotonia, variable respiratory manifestations, chronic feeding difficulties and gray matter heterotopia." "" + "hereditary thrombocytopenia and hematologic cancer predisposition syndrome" "The disorder is characterized by thrombocytopenia of varying severity and a predisposition to hematologic malignancies. It may be caused due to germ line variations in the RUNX1, ETV6 or ANKRD26 genes." "" + "isolated constitutional thrombocytopenia" "" + "diabetes mellitus, noninsulin-dependent, 2" "" + "diabetes mellitus, transient neonatal, 1" "" + "transient neonatal diabetes mellitus" "Transient neonatal diabetes mellitus (TNDM) is a genetically heterogeneous form of neonatal diabetes (NDM) characterized by hyperglycemia presenting in the neonatal period that remits during infancy but recurs in later life in most patients." "" + "autosomal dominant nonsyndromic hearing loss 7" "An autosomal dominant nonsyndromic deafness that is characterized by progressive high-tone hearing loss and has material basis in variation in the chromosome region 1q21-q23." "" + "retinitis pigmentosa 18" "Any retinitis pigmentosa in which the cause of the disease is a mutation in the PRPF3 gene." "" + "myofibrillar myopathy 1" "Desminopathy is a rare genetic skeletal muscle disease characterized by abnormal chimeric aggregates of desmin and other cytoskeletal proteins and granulofilamentous material at the ultrastructural level in muscle biopsies and variable clinical/ myopathological features, age of disease onset and rate of disease progression. Patients present with bilateral skeletal muscle weakness that starts in distal leg muscles and spreads proximally, sometimes involving trunk, neck flexors and facial muscles and often cardiomyopathy manifested by conduction blocks, arrhythmias, chronic heart failure, and sometimes tachyarrhythmia. Weakness eventually leads to wheelchair dependence. Respiratory insufficiency can be a major cause of disability and death, beginning with nocturnal hyperventilation with oxygen desaturation and progressing to daytime respiratory failure." "" + "microcephaly, corpus callosum dysgenesis, and cleft lip/palate" "" + "anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosis" "" + "rhizomelic dysplasia, Patterson-Lowry type" "Rhizomelic dysplasia, Patterson-Lowry type is a rare primary bone dysplasia characterized by short stature, severe rhizomelic shortening of the upper limbs associated with specific malformations of humeri (including marked widening and flattening of proximal metaphyses, medial flattening of the proximal epiphyses, and lateral bowing with medial cortical thickening of the proximal diaphyses), marked coxa vara with dysplastic femoral heads and brachimetacarpalia." "" + "progressive deafness with stapes fixation" "Stapes fixation (stapedovestibular ankylosis) is a hearing loss condition that appears as a consequence of annular ligament destruction followed by excessive connective tissue production during the healing process. This condition is mainly observed in otosclerosis, but is also found in chronic otitis media with tympanosclerosis, and other rare bone diseases such as Paget's disease and osteogenesis imperfecta (Lobstein disease)." "" + "dislocation of the hip-dysmorphism syndrome" "Dislocation of the hip-dysmorphism syndrome is a rare multiple congenital anomalies syndrome characterized by bilateral congenital dislocation of the hip, characteristic facial features (flat mid-face, hypertelorism, epicanthus, puffiness around the eyes, broad nasal bridge, carp-shaped mouth), and joint hyperextensibility. Congenital heart defects, congenital dislocation of the knee, congenital inguinal hernia, and vesicoureteric reflux have also been reported. There have been no further descriptions in the literature since 1995." "" + "oculoauriculofrontonasal syndrome" "" + "trichodental syndrome" "Trichodental syndrome is characterised by the association of fine, dry and short hair with dental anomalies. It has been described in less than 10 families. The mode of transmission is autosomal dominant." "" + "psoriasis 3, susceptibility to" "" + "Charcot-Marie-Tooth disease type 4D" "Charcot-Marie-Tooth disease type 4D (CMT4D) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by a childhood-onset of severe, progressive, demyelinating sensorimotor neuropathy manifesting with distal muscle weakness and atrophy, sensorineural hearing impairment leading to deafness (usually in third decade), severely reduced nerve conduction velocities, and skeletal, especially foot, deformities. Tongue atrophy has also been reported." "" + "severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive" "A rare, genetic T-B- severe combined immunodeficiency disorder due to null mutations in recombination activating gene (RAG) 1 and/or RAG2 resulting in less than 1% of wild type V(D)J recombination activity. Patients present with neonatal onset of life-threatening, severe, recurrent infections by opportunistic fungal, viral and bacterial micro-organisms, as well as skin rashes, chronic diarrhea, failure to thrive and fever. Immunologic observations include profound T- and B-cell lymphopenia, normal NK counts and low or absent serum immunoglobulins; some patients may have eosinophilia." "" + "inflammatory bowel disease 2" "An inflammatory bowel disease that has material basis in variation in the chromosome region 12p13.2-q24.1." "" + "congenital myasthenic syndrome 1A" "Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the CHRNA1 gene." "" + "patent ductus venosus" "" + "isolated hereditary congenital facial paralysis" "Isolated hereditary congenital facial paralysis (IHCFP) is an extremely rare neurological disorder presumed to result from maldevelopment of the facial nucleus and/or cranial nerve and has been reported in fewer than 10 families to date. It manifests as non-progressive, isolated, unilateral or bilateral, symmetrical or asymmetrical facial palsy. Involvement of the branches of the facial nerve can be unequal." "" + "Charcot-Marie-Tooth disease type 2D" "Autosomal dominant Charcot-Marie-Tooth disease type 2D (CMT2D) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by distal weakness primarily and predominantly occurring in the upper limbs and tendon reflexes absent or reduced in the arms and decreased in the legs. Progression is slow." "" + "ribbing disease" "Ribbing disease is a rare bone disease that causes bony growths on the long bones, such as the thigh bone and shine bone.Ribbing diseaseaffects women more frequently than men. The most common symptom is pain. A single studyof 14 patients found an association between Ribbing disease and impaired exercise tolerance and changes in heart function (i.e., increased prevalence of arrhythmia and changes in left ventricular systolic and diastolic function).The cause of the condition iscurrently unknown, although some cases appear to be genetic and inherited in an autosomal recessive fashion.Optimal treatment for the disease is largely unknown. There have been case reports describingtreatment of Ribbing diseasewith bisphosphonate pamidronate. Results have been mixed. The conditionoften resolves on its own; howevercases of progressive disease have been described." "" + "mucopolysaccharidosis type 9" "An autosomal recessive lysosomal storage disease caused by mutation(s) in the HYAL1 gene, encoding hyaluronidase-1. It is characterized by short stature and hyaluronidase deficiency." "" + "dilated cardiomyopathy 1C" "A dilated cardiomyopathy that has material basis in mutation in the LDB3 gene on chromosome 10q23.2." "" + "left ventricular noncompaction" "Left ventricular noncompaction (LVNC) is a rare cardiomyopathy characterized anatomically by prominent left ventricular trabeculae and deep intratrabecular recesses causing progressive systolic and diastolic dysfunction, conduction abnormalities, and occasionally thromboembolic events." "" + "dilated cardiomyopathy 1D" "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the TNNT2 gene." "" + "autosomal agammaglobulinemia" "Agammaglobulinemia, non-Bruton type (autosomal agammaglobulinemia) is a rare form of agammaglobulinemia, a primary immunodeficiency disease, and is characterized by variable immune dysfunction with frequent and recurrent bacterial infections and/or chronic diarrhea." "" + "Axenfeld-Rieger syndrome type 2" "An Axenfeld-Rieger syndrome that has material basis in deletions in the region 13q14." "" + "prostate cancer, hereditary, 1" "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." "" + "human HOXA1 syndromes" "Human HOXA1 syndromes is characterised by deafness, central hypoventilation, congenital ocular paralysis and developmental retardation. Cardiac anomalies and paralysis of the vocal chords may also be present. Six cases have been reported so far. Transmission is thought to be autosomal recessive." "" + "microcephaly, retinitis pigmentosa, and sutural cataract" "" + "peroxisome biogenesis disorder 1B" "" + "autosomal dominant nonsyndromic hearing loss 12" "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the TECTA gene." "" + "autosomal dominant nonsyndromic hearing loss 3A" "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the GJB2 gene." "" + "cataract 3 multiple types" "Any cataract (disease) in which the cause of the disease is a mutation in the CRYBB2 gene." "" + "alacrima, congenital, autosomal recessive" "" + "facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome" "Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome is a syndromic developmental defect of the eye characterized by dislocated or subluxated crystalline lenses, anterior segment abnormalities, and distinctive facial features such as flat cheeks and a prominent, beaked nose. Affected individuals may develop nontraumatic conjunctival cysts, also referred to as filtering blebs." "" + "congenital hypotrichosis with juvenile macular dystrophy" "A very rare syndrome characterized by sparse and short hair from birth followed by progressive macular degeneration leading to blindness." "" + "Stüve-Wiedemann syndrome" "A rare autosomal recessive congenital primary skeletal dysplasia, characterized by small stature, bowing of the long bones, camptodactyly, hyperthermic episodes, respiratory distress/apneic episodes and feeding difficulties that usually lead to early mortality." "" + "multiple epiphyseal dysplasia, Lowry type" "Multiple epiphyseal dysplasia, Lowry type is a rare primary bone dysplasia characterized by small, flat epiphyses (esp. the capital femoral epiphyses), rhizomelic shortening of limbs, cleft of secondary palate, micrognathia, mild joint contractures and facial dysmorphism (incl. mildly upward-slanting palpebral fissures, hypertelorism, broad nasal tip). Additionally reported features include scoliosis, genu valgum, mild pectus excavatum, platyspondyly, dislocated radial heads, brachydactyly, hypoplastic fibulae and talipes equinovarus." "" + "dyssegmental dysplasia-glaucoma syndrome" "This syndrome is characterised by Kniest dysplasia, spine abnormalities and severe dwarfism. Glaucoma has also been reported. The syndrome has been described in two unrelated children." "" + "horns in sheep" "" + "Wilms tumor 5" "Any Wilms tumor in which the cause of the disease is a mutation in the POU6F2 gene." "" + "Charcot-Marie-Tooth disease type 4C" "Charcot-Marie-Tooth disease type 4C (CMT4C) is a subtype of Charcot-Marie-Tooth type 4 characterized by childhood or adolescent-onset of a relatively mild, demyelinating sensorimotor neuropathy that contrasts with a severe, rapidly progressing, early-onset scoliosis, and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, sensory loss, and often foot deformity). A wide spectrum of nerve conduction velocities are observed and cranial nerve involvement and kyphoscoliosis have also been reported." "" + "familial multiple trichoepithelioma" "" + "spastic paraplegia and Evans syndrome" "" + "lung agenesis-heart defect-thumb anomalies syndrome" "Lung agenesis - heart defect - thumb anomalies is a very rare syndrome characterized by unilateral complete or partial lung agenesis, congenital cardiac defects and ipsilateral thumb anomalies." "" + "iris pigment epithelium anomalies" "" + "acute leukemia of ambiguous lineage" "An acute leukemia in which the blasts lack sufficient evidence to classify as myeloid or lymphoid or they have morphologic and/or immunophenotypic characteristics of both myeloid and lymphoid cells. (WHO, 2001)" "" + "neural tube defects, folate-sensitive" "" + "paragangliomas 2" "Any paraganglioma in which the cause of the disease is a mutation in the SDHAF2 gene." "" + "type 1 diabetes mellitus 15" "A type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 6q21." "" + "spondyloepimetaphyseal dysplasia-abnormal dentition syndrome" "Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome is a rare primary bone dysplasia disorder characterized by the association of dental anomalies (oligodontia with pointed incisors) and generalized platyspondyly with epiphyseal and metaphyseal involvement. Thin tapering fingers and accentuated palmar creases are additional features." "" + "trichothiodystrophy 1, photosensitive" "" + "acute insulin response" "" + "obsolete Bartter disease type 1" "" "true" + "Sheldon-hall syndrome" "Sheldon-Hall syndrome (SHS) is a rare multiple congenital contracture syndrome characterized by contractures of the distal joints of the limbs, triangular face, downslanting palpebral fissures, small mouth, and high arched palate." "" + "glaucoma type 1C" "" + "sebaceous gland hyperplasia, familial presenile" "" + "tricho-oculo-dermo-vertebral syndrome" "" + "T-cell immunodeficiency, congenital alopecia, and nail dystrophy" "A severe combined immunodeficiency characterized by congenital alopecia, severe T-cell immunodeficiency, and ridging, pitting or curving of all nails that has material basis in homozygous mutation in the FOXN1 gene on chromosome 17q11-q12." "" + "deaf blind hypopigmentation syndrome, Yemenite type" "Yemenite deaf-blind hypopigmentation syndrome is an exceedingly rare genetic disorder characterized by cutaneous pigmentation anomalies, ocular disorders and hearing loss." "" + "Curry-Jones syndrome" "Curry-Jones syndrome is a form of syndromic craniosynostosis, characterized by unilateral coronal craniosynostosis or multiple suture synostosis associated with complete or partial agenesis of the corpus callosum, preaxial polysyndactyly and syndactyly of hands and/or feet, along with anomalies of the skin (characteristic pearly white areas that become scarred and atrophic, abnormal hair growth around the eyes and/or cheeks, and on the limbs), eyes (iris colobomas, microphthalmia,) and intestine (congenital short gut, malrotation, dysmotility, chronic constipation, bleeding and myofibromas). Developmental delay and variable degrees of intellectual disability may also be observed. Multiple intra-abdominal smooth muscle hamartomas, trichoblastoma of the skin, occipital meningoceles and development of desmoplastic medulloblastoma have been reported." "" + "superior transverse scapular ligament, calcification of, familial" "" + "Quebec platelet disorder" "Quebec platelet syndrome (QPS) is a platelet granule disorder characterized by moderate to severe bleeding after trauma, surgery or obstetric interventions, frequent ecchymoses, mucocutaneous bleeding and muscle and joint bleeds." "" + "retinitis pigmentosa 19" "Any retinitis pigmentosa in which the cause of the disease is a mutation in the ABCA4 gene." "" + "systemic lupus erythematosus, susceptibility to, 1" "Any systemic lupus erythematosus in which the cause of the disease is a mutation in the TLR5 gene." "" + "preaxial hallucal polydactyly" "" + "diabetic embryopathy" "Diabetic embryopathy is characterized by congenital anomalies or foetal/neonatal complications in an infant that are linked to diabetes in the mother." "" + "benign familial neonatal-infantile seizures" "Benign familial neonatal-infantile seizures (BFNIS) is a benign familial epilepsy syndrome with an intermediate phenotype between benign familial neonatal seizures (BFNS) and benign familial infantile seizures (BFIS). So far, this syndrome has been described in multiple members of 10 families. Age of onset in these BFNIS families varied from 2 days to 6 months, with spontaneous resolution in most cases before the age of 12 months. Like BFNS and BFIS, seizures in BFNIS generally occur in clusters over one or a few days with posterior focal seizure onset. BFNIS is caused by mutations in the SCN2A gene (2q24.3), encoding the voltage-gated sodium channel alpha-subunit Na(V)1.2. Transmission is autosomal dominant." "True" + "benign familial infantile epilepsy" "Benign familial infantile epilepsy (BFIE) is a genetic epileptic syndrome characterized by the occurrence of afebrile repeated seizures in healthy infants, between the third and eighth month of life." "" + "megaloblastic anemia, folate-responsive" "" + "Ehlers-Danlos syndrome, musculocontractural type" "Ehlers-Danlos syndrome, musculocontractural type is a congenital form of Ehlers-Danlos syndrome characterized by distinct craniofacial features, multiple contractures, progressive joint and skin laxity, adduction-flexion contractures of the thumbs, talipes equinovarus, bruisability and multisystem fragility-related manifestations." "" + "cone-rod dystrophy 6" "Any cone-rod dystrophy in which the cause of the disease is a mutation in the GUCY2D gene." "" + "GUCY2D retinopathy" "Any inherited retinal dystrophy in which the cause of the disease is a mutation in the GUCY2D gene." "" + "ceroid lipofuscinosis, neuronal, 6A" "A rare condition that affects the nervous system. Signs and symptoms of the condition generally develop between ages 18 months and 8 years, although later onset cases have been reported. Affected people may experience loss of muscle coordination (ataxia), seizures that do not respond to medications, muscle twitches (myoclonus), visual impairment, and developmental regression (loss of previously acquired skills). It occurs predominantly in people of Portuguese, Indian, Pakistani, or Czech ancestry. CLN6-NCL is caused by changes (mutations) in the CLN6 gene and is inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms." "" + "colobomatous microphthalmia - obesity - hypogenitalism - intellectual disability syndrome" "" + "tetrasomy 12p" "Pallister-Killian syndrome (PKS) is a rare multiple congenital anomaly/intellectual deficit syndrome caused by mosaic tissue-limited tetrasomy for chromosome 12p." "" + "partial trisomy/tetrasomy of the short arm of chromosome 12" "" + "chromosomal disease with overgrowth" "True" + "chromosome 18q deletion syndrome" "A condition in which some or all of the cells of the body contain extra genetic material from chromosome 18. Clinical features of this condition may include the following: spina bifida, hearing loss, cleft lip, cleft palate, undescended testes, rocker bottom feet, micrognathia, low set ears, cardiac anomalies (ventricular septal defect, atrial septal defect, patent ductus arteriosus, tetralogy of Fallot), intellectual disability, holoprosencephaly, pituitary dysplasia, seizures, autoimmune disorders, hip dysplasia, and/or congenital cataracts." "" + "Spondylospinal thoracic dysostosis" "Spondylospinal thoracic dysostosis is an extremely rare skeletal disorder characterized bya short, curved spine and fusion of the spinous processes, short thorax with 'crab-like' configuration of the ribs, underdevelopment of the lungs (pulmonary hypoplasia), severe arthrogryposis and multiple pterygia (webbing of the skin across joints), and underdevelopment of the bones of the mouth.This condition is believed to be inherited in an autosomal recessive manner.It does notappear to be compatible with life." "" + "premature aging syndrome, Okamoto type" "" + "acroosteolysis-keloid-like lesions-premature aging syndrome" "" + "exudative vitreoretinopathy 4" "" + "PHGDH deficiency" "3-Phosphoglycerate dehydrogenase deficiency (3-PGDH deficiency) is an autosomal recessive form of serine deficiency syndrome characterized clinically in the few reported cases by congenital microcephaly, psychomotor retardation and intractable seizures in the infantile form and by absence seizures, moderate developmental delay and behavioral disorders in the juvenile form" "" + "hyperinsulinemic hypoglycemia, familial, 2" "Any hyperinsulinemic hypoglycemia in which the cause of the disease is a mutation in the KCNJ11 gene." "" + "congenital isolated hyperinsulinism" "Congenital isolated hyperinsulinism (CHI), a rare endocrine disease is the most frequent cause of severe and persistent hypoglycemia in the neonatal period and early infancy and is characterized by an excessive or uncontrolled insulin secretion (inappropriate for the level of glycemia) and recurrent episodes of profound hypoglycemia requiring rapid and intensive treatment to prevent neurological sequelae. CHI comprises 2 different forms: diazoxide-sensitive diffuse hyperinsulinism and diazoxide-resistant hyperinsulinism." "" + "acrofacial dysostosis, Palagonia type" "Acrofacial dysostosis, Palagonia type is a very rare form of acrofacial dysostosis, reported in four members of a family from the Sicilian village of Palagonia, characterized by normal intelligence, shortness of stature, and mild acrofacial dysostosis (malar hypoplasia, micrognathia and webbing of digits with shortening of the fourth metacarpals) associated with oligodontia, normal or high arched palate, aplasia cutis verticis with pili torti, mild cutaneous syndactyly of digits 2-5, webbing of digits and shortening of the fourth metacarpals, and unilateral cleft lip. Features are similar to those seen in Zlotogora-Ogur syndrome, although the latter shows no sign of acrofacial dysostosis. There have been no further reports in the literature since 1997." "" + "vacuolar Neuromyopathy" "" + "progressive familial intrahepatic cholestasis type 2" "Progressive familial intrahepatic cholestasis type 2 (PFIC2), a type of progressive familial intrahepatic cholestasis (PFIC), is a severe, neonatal, hereditary disorder in bile formation that is hepatocellular in origin and not associated with extrahepatic features. Initially, PFIC2 was reported under the name Byler syndrome." "" + "benign recurrent intrahepatic cholestasis type 2" "" + "Gomez-Lopez-Hernandez syndrome" "Lopez-Hernandez syndrome, which may be classified among the neurocutaneous syndromes, associates abnormalities of the cerebellum (rhombencephalosynapsis), cranial nerves (trigeminal anesthesia), and scalp (alopecia). It has been reported in 11 individuals so far. Other features observed in patients were craniosynostosis, midfacial hypoplasia, bilateral corneal opacities, low-set ears, short stature, moderate intellectual impairment and ataxia. Hyperactivity, depression, self-injurious behaviour and bipolar disorder have also been reported." "" + "autoimmune lymphoproliferative syndrome type 1" "" + "autoimmune lymphoproliferative syndrome" "Autoimmune lymphoproliferative syndrome (ALPS) is a rare, inherited disorder characterized by non-malignant lymphoproliferation, multilineage cytopenias, and a lifelong increased risk of Hodgkin's and non-Hodgkin's lymphoma." "" + "autosomal dominant nonsyndromic hearing loss 13" "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the COL11A2 gene." "" + "autosomal recessive nonsyndromic hearing loss 15" "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the GIPC3 gene." "" + "sperm-specific antigen 1" "" + "cataract 14 multiple types" "Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the GJA3 gene." "" + "malignant hyperthermia, susceptibility to, 5" "Any malignant hyperthermia of anesthesia in which the cause of the disease is a mutation in the CACNA1S gene." "" + "malignant hyperthermia, susceptibility to, 6" "" + "glomerulopathy with fibronectin deposits 2" "Any fibronectin glomerulopathy in which the cause of the disease is a mutation in the FN1 gene." "" + "lymphedema-atrial septal defects-facial changes syndrome" "Lymphedema-atrial septal defects-facial changes syndrome is characterised by congenital lymphoedema of the lower limbs, atrial septal defect and a characteristic facies (a round face with a prominent forehead, a flat nasal bridge with a broad nasal tip, epicanthal folds, a thin upper lip and a cleft chin). It has been described in two brothers and a sister. Transmission appears to be autosomal recessive." "" + "type 1 diabetes mellitus 6" "A type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 18q21." "" + "type 1 diabetes mellitus 10" "Any type 1 diabetes mellitus in which the cause of the disease is a mutation in the IL2RA gene." "" + "keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome" "Keratosis linearis-ichthyosis congenita-sclerosing keratoderma (KLICK) syndrome is an inherited epidermal disorder characterized by palmoplantar keratoderma, linear hyperkeratotic papules on the flexural side of large joints (cord-like distribution around wrists, in antecubital and popliteal folds), hyperkeratotic plaques (on neck, axillae, elbows, wrists, and knees), mild ichthyosiform scaling, and sclerotic constrictions around fingers that present flexural deformities." "" + "inherited non-syndromic ichthyosis" "A inherited ichthyosis that is not part of a larger syndrome." "" + "autosomal recessive limb-girdle muscular dystrophy type 2G" "Autosomal recessive limb-girdle muscular dystrophy type 2G (LGMD2G) is a mild subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a variable onset (ranging from infancy to adolescence) of progressive proximal upper and lower limb muscle weakness and atrophy. Mild scapular winging, calf hypertrophy, and lack of respiratory and cardiac involvement are also observed." "" + "qualitative or quantitative defects of telethonin" "" + "odonto-tricho-ungual-digito-palmar syndrome" "Odonto-tricho-ungual-digito-palmar syndrome is characterised by neonatal teeth, trichodystrophy and malformations of the hands and feet. To date, it has been reported in 21 patients and is transmitted as an autosomal dominant trait." "" + "otofacioosseous-gonadal syndrome" "" + "thrombocythemia 2" "Familial thrombocytosis in which the cause of the disease is a mutation in the MPL gene." "" + "hyperzincemia with functional zinc depletion" "" + "Friedreich ataxia 2" "Any Friedreich ataxia with the locus FRDA2, which has linkage to chromosome 9p23-p11" "" + "Friedreich ataxia" "An inherited condition that affects the nervous system and causes movement problems. People with this condition develop impaired muscle coordination (ataxia) that worsens over time. Other features include the gradual loss of strength and sensation in the arms and legs, muscle stiffness (spasticity), and impaired speech. Many individuals have a form of heart disease called hypertrophic cardiomyopathy. Some develop diabetes, impaired vision, hearing loss, or an abnormal curvature of the spine (scoliosis). Most people with Friedreich ataxia begin to experience the signs and symptoms around puberty." "" + "intestinal hypomagnesemia 1" "Primary hypomagnesemia with secondary hypocalcemia (PHSH) is a form of familial primary hypomagnesemia (FPH), characterized by severe hypomagnesemia and secondary hypocalcemia associated with neurological symptoms, including generalized seizures, tetany and muscle spasms. PHSH may be fatal or may result in chronic irreversible neurological complications." "" + "familial primary hypomagnesemia with normocalcuria" "Familial primary hypomagnesemia with normocalcuria (FPHN) is a form of familial primary hypomagnesemia (FPH) which is characterized by low magnesium values but normal calcium values in the serum. The disorder consists of three distinct forms which are: autosomal recessive primary hypomagnesemia with normocalcuria and hypocalcemia (ARPHN), familial primary hypomagnesemia with normocalcuria and normocalcemia (FPHNN) and isolated autosomal dominant hypomagnesemia, Glaudemans type." "" + "ectodermal dysplasia 4, hair/nail type" "Any pure hair and nail ectodermal dysplasia in which the cause of the disease is a mutation in the KRT85 gene." "" + "pure hair and nail ectodermal dysplasia" "Pure hair and nail ectodermal dysplasia is characterised by the association of onychodystrophy and severe hypotrichosis, which is mainly limited to the scalp but may also affect the eyelashes and eyebrows. Less than 20 cases have been reported so far. The mode of transmission is autosomal dominant." "" + "infantile convulsions and choreoathetosis" "Infantile Convulsions and paroxysmal ChoreoAthetosis (ICCA) syndrome is a neurological condition characterized by the occurrence of seizures during the first year of life (Benign familial infantile epilepsy) and choreoathetotic dyskinetic attacks during childhood or adolescence." "" + "paroxysmal dyskinesia" "Paroxysmal dyskinesia (PD) is a rare heterogenous group of movement disorders manifesting as abnormal involuntary movements that recur episodically and last only a brief time. PD includes paroxysmal kinesigenic dyskinesia (PKD), paroxysmal non-kinesigenic dyskinesia (PNKD), paroxysmal exertion-induced dyskinesia (PED) and a variant form of PKD, infantile convulsion and choreoathetosis (ICCA syndrome)." "" + "benign partial infantile seizures" "" + "leishmaniasis, tegumentary, susceptibility to" "" + "broad terminal phalanges, familial" "" + "fibrosis of extraocular muscles, congenital, 2" "Any congenital fibrosis of extraocular muscles in which the cause of the disease is a mutation in the PHOX2A gene." "" + "trimethylaminuria" "A rare inborn error of metabolism characterized by the presence of large amounts of trimethylamine in urine, sweat, and breath, resulting in a fishy body odor in affected individuals." "" + "dimethylglycine dehydrogenase deficiency" "An extremely rare autosomal recessive glycine metabolism disorder characterized clinically in the single reported case to date by muscle fatigue and a fish-like odor. This is an n-of-1 use case where only one patient or family has been described with this disorder." "" + "Paget disease of bone 2, early-onset" "" + "childhood apraxia of speech" "" + "Thiel-Behnke corneal dystrophy" "Thiel-Behnke corneal dystrophy (TBCD) is a rare form of superficial corneal dystrophy characterized by sub-epithelial honeycomb-shaped corneal opacities in the superficial cornea, and progressive visual impairment." "" + "Usher syndrome type 1F" "A form of Usher syndrome type IF that can be caused by homozygous or compound heterozygous mutation in the protocadherin-15 gene (PCDH15) on chromosome 10q. It is inherited in an autosomal recessive manner." "" + "polydactyly, postaxial, type A2" "" + "arrhythmogenic right ventricular dysplasia 3" "An arrhythmogenic right ventricular dysplasia associated with variation in the region 14q12-q22." "" + "arrhythmogenic right ventricular dysplasia 4" "An arrhythmogenic right ventricular dysplasia associated with variation in the region 2q32.1-q32.3." "" + "nephronophthisis 2" "Any nephronophthisis in which the cause of the disease is a mutation in the INVS gene." "" + "capillary infantile hemangioma" "" + "autosomal recessive nonsyndromic hearing loss 18A" "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the USH1C gene." "" + "cone dystrophy 3" "Any cone dystrophy in which the cause of the disease is a mutation in the GUCA1A gene." "" + "Alzheimer disease 5" "" + "Usher syndrome type 1E" "A form of Usher syndrome type I that features a novel locus for USH1, USH1E, mapping to chromosome band 21q21. It is inherited in an autosomal recessive manner." "" + "amyotrophic lateral sclerosis type 5" "Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the SPG11 gene." "" + "hereditary thermosensitive neuropathy" "Hereditary thermosensitive neuropathy is a rare, demyelinating, hereditary motor and sensory neuropathy characterized by reversible episodes of ascending muscle weakness, paresthesias and areflexia triggered by a febrile episode, with or without pressure palsy." "" + "spondyloepimetaphyseal dysplasia, Missouri type" "Spondyloepimetaphyseal dysplasia, Missouri type is characterized by moderate-to-severe metaphyseal changes, mild epiphyseal involvement, rhizomelic shortening of the lower limbs with bowing of the femora and/or tibiae, coxa vara, genu varum and pear-shaped vertebrae in childhood." "" + "nephropathy, progressive tubulointerstitial, with cholestatic liver disease" "" + "primary sclerosing cholangitis" "Primary sclerosing cholangitis (PSC) is a rare, slowly progressive liver disease characterized by inflammation and destruction of the intra- and/or extra-hepatic bile ducts that lead to cholestasis, liver fibrosis, liver cirrhosis and ultimately liver failure." "" + "torsion dystonia 7" "A focal dystonia characterized by predomiantly cervical dystonia that has material basis in variation in the chromosome region 18p." "" + "tremor, hereditary essential, 2" "" + "RHYNS syndrome" "RHYNS syndrome is characterised by the association of retinitis pigmentosa, hypopituitarism, nephronophthisis, and skeletal dysplasia." "" + "Pierre Robin sequence with pectus excavatum and rib and scapular anomalies" "" + "obsolete cerebellar degeneration-related autoantigen 3" "" "true" + "medium chain 3-ketoacyl-Coa thiolase deficiency" "" + "ventriculomegaly with defects of the radius and kidney" "" + "xanthomatosis, susceptibility to" "" + "homozygous familial hypercholesterolemia" "" + "malignant atrophic papulosis" "Malignant atrophic papulosis (MAP) is a rare, chronic, thrombo-obliterative vasculopathy characterized by papular skin lesions with central porcelain-white atrophy and a surrounding teleangiectatic rim. Systemic lesions may affect the gastrointestinal tract and the central nervous system (CNS) and are potentially lethal." "" + "progeroid facial appearance with hand anomalies" "" + "mitochondrial intermembrane space protein Tim12, yeast, homolog of" "" + "axial spondylometaphyseal dysplasia" "Axial spondylometaphyseal dysplasia is a genetic disorder of bone growth. The term axial means towards the center of the body. Sphondylos is a Greek term meaning vertebra. Metaphyseal dysplasia refers to abnormalities at the ends of long bones.Axial spondylometaphyseal dysplasia primarily affects the bones of the chest, pelvis, spine,upper arms and upper legs, and results in shortened stature.For reasons not well understood,this rare skeletal dysplasia is also associated withearly and progressivevision loss. The underlying genetic cause of axial spondylometaphyseal dysplasia is currently unknown.It is thought to be inherited in an autosomal recessive fashion." "" + "sensorineural hearing loss, retinal pigment epithelium lesions, discolored teeth" "" + "Pierpont syndrome" "Pierpont syndrome is a rare subcutaneous tissue disorder characterized by axial hypotonia after birth, prolonged feeding difficulties, moderate to severe global developmental delay, seizures (in particular absence seizures), fetal digital pads, distinctive plantar fat pads anteromedial to the heels, deep palmar and plantar grooves. Additionally, distinct craniofacial dysmorphic features, notably a broad face with high forehead, high anterior hairline, narrow palpebral fissures that take on a crescent moon shape when smiling, broad nasal bridge and tip with anteverted nostrils, mild midfacial hypoplasia, long, smooth philtrum, thin upper lip vermillion, small, widely spaced teeth and flat occiput/microcephaly/brachycephaly, are also chararteristic. Over time, fat pads may become less prominent and disappear." "" + "progressive familial intrahepatic cholestasis type 3" "Progressive familial intrahepatic cholestasis type 3 (PFIC3), a type of progressive familial intrahepatic cholestasis (PFIC), is a late-onset hereditary disorder in bile formation that is hepatocellular in origin. Onset may occur from infancy to young adulthood." "" + "osteocraniostenosis" "Osteocraniostenosis is a lethal skeletal dysplasia characterized by a cloverleaf skull anomaly, facial dysmorphism, limb shortness, splenic hypo/aplasia and radiological anomalies including thin tubular bones with flared metaphyses and deficient calvarial mineralization." "" + "hemochromatosis type 2A" "Any hemochromatosis type 2 in which the cause of the disease is a mutation in the HJV gene." "" + "hemochromatosis type 2" "Hemochromatosis type 2 (juvenile) is the early-onset and most severe form of rare hereditary hemochromatosis (HH), a group of diseases characterized by excessive tissue iron deposition of genetic origin." "" + "desmosterolosis" "Desmosterolosis is a very rare sterol biosynthesis disorder characterized by multiple congenital anomalies, failure to thrive, and intellectual disability, with elevated levels of desmosterol." "" + "autosomal recessive congenital ichthyosis 11" "" + "Fried's tooth and nail syndrome" "" + "parkinson disease 3, autosomal dominant" "" + "Weyers ulnar ray/oligodactyly syndrome" "" + "glaucoma 1, open angle, D" "" + "amyotrophic lateral sclerosis type 4" "Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the SETX gene." "" + "monomelic amyotrophy" "Monomelic amyotrophy (MA) is a rare benign lower motor neuron disorder characterized by muscular weakness and wasting in the distal upper extremities during adolescence followed by a spontaneous halt in progression and a stabilization of symptoms." "" + "acquired motor neuron disease" "An instance of motor neuron disease that is acquired during the lifetime of the individual." "" + "severe combined immunodeficiency due to DCLRE1C deficiency" "Severe combined immunodeficiency (SCID) due to DCLRE1C deficiency is a type of SCID characterized by severe and recurrent infections, diarrhea, failure to thrive, and cell sensitivity to ionizing radiation." "" + "autosomal dominant nonsyndromic hearing loss 15" "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the POU4F3 gene." "" + "short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome" "" + "creases, infra-auricular cutaneous, with tall stature and advanced bone age" "" + "ethylmalonic encephalopathy" "Ethylmalonic acid encephalopathy (EE) is defined by elevated excretion of ethylmalonic acid (EMA) with recurrent petechiae, orthostatic acrocyanosis and chronic diarrhoea associated with neurodevelopmental delay, psychomotor regression and hypotonia with brain magnetic resonance imaging (MRI) abnormalities." "" + "ossification of the posterior longitudinal ligament of the spine" "A disorder characterized by benign depositions of calcium in the posterior longitudinal ligament. Signs and symptoms result from the compression of nerve roots and include motor and sensory disturbances in the lower and upper extremities, and pain in the neck and arms." "" + "febrile seizures, familial, 2" "" + "migraine, familial hemiplegic, 2" "Any familial or sporadic hemiplegic migraine in which the cause of the disease is a mutation in the ATP1A2 gene." "" + "Axenfeld-Rieger syndrome type 3" "Any Axenfeld-Rieger syndrome in which the cause of the disease is a mutation in the FOXC1 gene." "" + "anterior segment dysgenesis 3" "An iridogoniodysgenesis that results from alterations in the forkhead transcription factor gene (FOXC1)" "" + "auriculocondylar syndrome 1" "Any auriculocondylar syndrome in which the cause of the disease is a mutation in the GNAI3 gene." "" + "pelvic dysplasia-arthrogryposis of lower limbs syndrome" "" + "hyperinsulinism due to glucokinase deficiency" "Hyperinsulism due to glucokinase deficiency (HIGCK) is a form of diazoxide-sensitive diffuse hyperinsulinism, caused by a lowered threshold for insulin release, characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) and recurrent episodes of profound hypoglycemia induced by fasting and protein rich meals, requiring rapid and intensive treatment to prevent neurological sequelae." "" + "diazoxide-sensitive diffuse hyperinsulinism" "" + "hyperlipidemia, combined, 1" "Any familial combined hyperlipidemia in which the cause of the disease is a mutation in the USF1 gene." "" + "chondrodysplasia punctata, brachytelephalangic, autosomal" "" + "colobomatous macrophthalmia-microcornea syndrome" "" + "major induction processes eye anomaly" "" + "megalencephaly-capillary malformation-polymicrogyria syndrome" "Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP) is a polymalfomative syndrome characterized by cutaneous capillary malformations, megalencephaly, cortical brain malformations (most distinctively polymicrogyria), abnormalities of somatic growth with body and brain asymmetry, developmental delay, and characteristic facial dysmorphism." "" + "overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes" "A disease caused by mosaic gain-of-function (GoF) of several genes in the MTOR pathway (MTOR, PIK3CA, PIK3R2 and AKT3) are functionally the same despite significant phenotypic variability. These GoF variants result in overgrowth due to an over-activation of key genes in this pathway. The phenotypic variability is generally attributed to the mosaic fraction and affected tissue types. For example, macrocephaly is noted if the variant is identified in the brain, but non symmetric overgrowth of that limb is noted when the variant is only present in the affected limb. The pathologies of the affected tissue often reveal similar characteristics such as cellular overgrowth. However, this is not always the case especially with focal cortical dysplasia. At times the characteristics pathologies are not present in the tissue but sampling biases are an issue. FCD resections often involve a very small area and so a very small amount of tissue is available for pathology and it is not guaranteed that lesional tissue is sent. Therefore, having a single disease term which can encompass the phenotypic variability yet provide a unifying molecular diagnosis name makes sense given the common functional mechanism." "" + "pseudoacromegaly with severe insulin resistance" "" + "Bartter disease type 4a" "Any Bartter syndrome in which the cause of the disease is a mutation in the BSND gene." "" + "grange syndrome" "Grange syndrome is characterised by stenosis or occlusion of multiple arteries (including the renal, cerebral and abdominal vessels), hypertension, brachysyndactyly, syndactyly, increased bone fragility, and learning difficulties or borderline intellectual deficit. Congenital heart defects were also reported in some cases." "" + "Marshall-Smith syndrome" "Marshall-Smith syndrome is a rare genetic disease characterized by tall stature and advanced bone age at birth." "" + "ichthyosis, hystrix-like, with hearing loss" "" + "megaconial type congenital muscular dystrophy" "" + "jejunal atresia with renal adysplasia" "" + "distal monosomy 13q" "Distal monosomy 13q is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 13, with a highly variable phenotype typically characterized by varying degrees of intellectual disability and developmental delay, as well as CNS malformations (e.g. holoprosencephaly, anencephaly, ventriculomegaly, Dandy-Walker malformation), ocular abnormalities (e.g. hypertelorism, microphthalmia, strabismus, aniridia, retinal dysplasia) and craniofacial dysmorphism (microcephaly, trigonocephaly, large and malformed ears, broad prominent nasal bridge, micrognathia). Cardiac, genitourinary, gastrointestinal and skeletal manifestations have also been reported." "" + "partial deletion of the long arm of chromosome 13" "A cytogenetic abnormality that refers to the allelic loss of all or part of the long arm of chromosome 13." "" + "torsion dystonia with onset in infancy" "A dystonia characterized by autosomal dominant inheritance of generalized dystonia with severe involvement of the legs, mild involvement of the face and arms, and onset in infancy." "" + "microcephaly, macrotia, and intellectual disability" "" + "facial dysmorphism, cleft palate, hearing loss, and camptodactyly" "" + "spondyloepimetaphyseal dysplasia, Shohat type" "Spondyloepimetaphyseal dysplasia congenita, Shohat type is characterized by severely disproportionate short stature, short limbs, small chest, short neck, thin lips, severe lumbar lordosis, marked genu varum, joint laxity, distended abdomen, mild hepatomegaly and splenomegaly." "" + "craniomicromelic syndrome" "Craniomicromelic syndrome is a very rare disorder characterized by intrauterine growth retardation, underossification of the skull with large fontanels, short limbs with absent phalanges and finger and toe syndactyly." "" + "brachydactyly, intraventricular septal defect, and deafness" "" + "mandibulofacial dysostosis-macroblepharon-macrostomia syndrome" "" + "emphysema, congenital, with deafness, penoscrotal web, and intellectual disability" "" + "MPI-CDG" "MPI-CDG is a form of congenital disorders of N-linked glycosylation, characterized by cyclic vomiting, profound hypoglycemia, failure to thrive, liver fibrosis, gastrointestinal complications (protein-losing enteropathy with hypoalbuminaemia, life-threatening intestinal bleeding of diffuse origin), and thrombotic events (protein C and S deficiency, low anti-thrombine III levels), whereas neurological development and cognitive capacity is usually normal. The clinical course is variable even within families. The disease is caused by loss of function of the gene MPI (15q24.1)." "" + "congenital disorder of glycosylation with intestinal involvement" "True" + "branchiootic syndrome 1" "Any branchiootic syndrome in which the cause of the disease is a mutation in the EYA1 gene." "" + "retinitis pigmentosa 22" "A retinitis pigmentosa that has material basis in variation in the chromosome region 16p12.3-p12.1." "" + "pancreatic lymphoma, familial" "An instance of pancreas lymphoma that is caused by an inherited modification of the individual's genome." "" + "spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability" "A spondyloepiphyseal dysplasia characterized by spondyloepiphyseal dysplasia, craniosynostosis, cataracts, cleft palate and intellectual deficit. This is an n-of-1 use case where only one patient or family has been described with this disorder." "" + "camptodactyly, myopia, and fibrosis of the medial rectus muscle of eye" "Camptodactyly-joint contractures-facial skeletal defects syndrome is characterised by the association of camptodactyly, multiple eye defects (fibrosis of the medial rectus muscle, severe myopia, ptosis and exophthalmos), scoliosis, flexion contractures and facial anomalies (arched eyebrows, facial asymmetry with an abnormal skull shape, a prominent nose, small mouth, low-set and dysplastic ears, and a low nuchal hairline)." "" + "skeletal dysplasia and progressive central nervous system degeneration, lethal" "" + "torsion dystonia 6" "Primary dystonia DYT6 type is characterized by focal, predominantly cranio-cervical dystonia with dysarthria and dysphagia, or limb dystonia in some cases." "" + "generalized isolated dystonia" "" + "tooth agenesis, selective, 2" "" + "myotonic dystrophy type 2" "Myotonic dystrophy type 2 (MD2), also known as proximal myotonic myopathy, is a very rare genetic multi-system disorder of late childhood or adult-onset characterized by mild myotonia, muscle weakness, and rarely cardiac conduction disorders." "" + "intellectual disability, severe, with spasticity and pigmentary tapetoretinal degeneration" "" + "renal tubular acidosis, distal, 3, with or without sensorineural hearing loss" "" + "psoriasis 2" "Any psoriasis in which the cause of the disease is a mutation in the CARD14 gene." "" + "prostate cancer, hereditary, 8" "" + "rigid spine muscular dystrophy 1" "An inherited muscular dystrophy caused by mutations in the SEPN1 gene. It is characterized by severe limitation in flexion of the dorsolumbar and cervical spine, due to contracture of the spinal extensors. It leads to loss of movement of the spine and the thoracic cage." "" + "rigid spine syndrome" "Rigid spine syndrome (RSS) is a slowly progressive childhood-onset congenital muscular dystrophy characterized by contractures of the spinal extensor muscles associated with abnormal posture (limitation of neck and trunk flexure), progressive scoliosis of the spine, early marked cervico-axial muscle weakness with relatively preserved strength and function of the extremities and progressive respiratory insufficiency." "" + "SELENON-related myopathy" "Myopathy caused by pathogenic variants in SELENON that is congenital or present early in childhood with neonatal hypotonia, delayed motor development, axial muscle weakness, scoliosis, and significant respiratory involvement. Spinal rigidity of varying severity is often present." "" + "retinitis pigmentosa 25" "Any retinitis pigmentosa in which the cause of the disease is a mutation in the EYS gene." "" + "H syndrome" "H syndrome is a systemic inherited histiocytosis, with characteristic cutaneous findings accompanying systemic manifestations. H syndrome refers to the major clinical findings of hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and occasionally, hyperglycemia/diabetes mellitus. Due to overlapping clinical features, H syndrome is now considered to include pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome (PHID), Faisalabad histiocytosis (FHC) and familial sinus histiocytosis with massive lymphadenopathy (FSHML)." "" + "Muenke syndrome" "Muenke syndrome is a syndromic craniosynostosis with significant phenotypic variability, usually characterized by coronal synostosis, midfacial retrusion, strabismus, hearing loss and developmental delay." "" + "acromesomelic dysplasia, Maroteaux type" "A rare autosomal recessive acromesomelic dysplasia characterized by severe dwarfism (adult height >120 cm), both axial and appendicular involvement (shortening of the middle and distal segments of limbs and vertebral shortening), and with normal facial appearance and intelligence. It is a less severe form than acromesomelic dysplasia, Grebe type and acromesomelic dysplasia, Hunter-Thomson type." "" + "orofacial cleft 2" "" + "obsolete leukoregulin" "" "true" + "obsolete bile duct cysts" "" "true" + "autosomal recessive nonsyndromic hearing loss 17" "An autosomal recessive nonsyndromic deafness that has material basis in variation between D7S2453 and D7S525 in the chromosome region 7q31." "" + "schizophrenia 6" "A schizophrenia that has material basis in an autosomal dominant mutation of SCZD6 on chromosome 8p21." "" + "congenital myasthenic syndrome 5" "Congenital myasthenic syndrome caused by mutation(s) in the COLQ gene, encoding acetylcholinesterase collagenic tail peptide. It is inherited in an autosomal recessive manner." "" + "synaptic congenital myasthenic syndrome" "" + "tumor suppressor gene on chromosome 11" "" + "mitochondrial DNA depletion syndrome 1" "" + "age related macular degeneration 1" "An age related macular degeneration associated with polymorphism in the hemicentin gene (HMCN1) on chromosome 1q25.3-q31.1." "" + "autosomal recessive nonsyndromic hearing loss 13" "An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 7q34-q36." "" + "craniosynostosis-anal anomalies-porokeratosis syndrome" "Craniosynostosis - anal anomalies - porokeratosis, or CDAGS, is a very rare condition characterized by craniosynostosis and clavicular hypoplasia, (C), delayed closure of the fontanel (D), anal anomalies (A), genitourinary malformations (G) and skin eruption (S)." "" + "spastic paraplegia, optic atrophy, microcephaly, and 10Y sex reversal" "" + "apraxia of eyelid opening" "" + "dislocated elbows, bowed tibias, scoliosis, deafness, cataract, microcephaly, and intellectual disability" "" + "congenital disorder of glycosylation type 1C" "A form of congenital disorders of N-linked glycosylation characterized by feeding problems, mild-to-moderate neurologic involvement with hypotonia, poor head control, developmental delay, ataxia, strabismus, and seizures, ranging from febrile convulsions to epilepsy. Retinal degeneration has also been reported. A minority of patients show other manifestations, particularly intestinal (such as protein-losing enteropathy) and liver involvement. The disease is caused by loss of function mutations of the gene ALG6 (1p31.3)." "" + "dermatitis, atopic" "" + "obsolete Homocysteinemia" "" "true" + "schizophrenia 5" "A schizophrenia that has material basis in a mutation on chromosome 6q13-q26." "" + "schizophrenia 7" "A schizophrenia that has material basis in an autosomal dominant mutation of SCZD7 on chromosome 13q32." "" + "Meckel syndrome, type 2" "Any Meckel syndrome in which the cause of the disease is a mutation in the TMEM216 gene." "" + "autosomal dominant nocturnal frontal lobe epilepsy 2" "An autosomal dominant nocturnal frontal lobe epilepsy that has material basis in variation in the chromosome region 15q24." "" + "schizophrenia 8" "A schizophrenia that has material basis in an autosomal dominant mutation of SCZD8 on chromosome 18p." "" + "Huntington disease-like 1" "Any neurodegenerative disease with chorea in which the cause of the disease is a mutation in the PRNP gene." "" + "myopia 3, autosomal dominant" "" + "pseudohypoparathyroidism type 1B" "Pseudohypoparathyroidism type 1B (PHP-1b) is a type of pseudohypoparathyroidism (PHP) characterized by localized resistance to parathyroid hormone (PTH) mainly in the renal tissues which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels. About 60-70% of patients also present with elevated TSH levels due to TSH resistance." "" + "type 1 diabetes mellitus 17" "A type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 10q25." "" + "focal segmental glomerulosclerosis 1" "Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the ACTN4 gene." "" + "cerebral cavernous malformation 2" "Any familial cerebral cavernous malformation in which the cause of the disease is a mutation in the CCM2 gene." "" + "famililal cerebral cavernous malformations" "A rare evolutive vascular malformation disorder characterized by closely clustered irregular dilated capillaries that can be asymptomatic or that can cause variable neurological manifestations such as seizures, non-specific headaches, progressive or transient focal neurologic deficits, and/or cerebral hemorrhages." "" + "muscular dystrophy, congenital, with cerebellar atrophy" "" + "schizophrenia 2" "A schizophrenia that has material basis in an autosomal dominant mutation of SCZD2 on chromosome 11q14-q21." "" + "GRACILE syndrome" "GRACILE syndrome is an inherited lethal mitochondrial disorder characterized by fetal growth restriction (GR), aminoaciduria (A), cholestasis (C), iron overload (I), lactacidosis (L), and early death (E)." "" + "familial gestational hyperthyroidism" "" + "hypertension, pregnancy-induced" "A hypertensive disorder that develops during pregnancy." "" + "long chain fatty acids, defect in transport of" "" + "glaucoma 1, open angle, F" "" + "thyroid carcinoma, nonmedullary, with or without cell oxyphilia" "" + "megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1" "Any megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome in which the cause of the disease is a mutation in the PIK3R2 gene." "" + "megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome" "Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome is characterized by megalencephaly, polymicrogyria, and hydrocephalus with variable polydactyly. It has been described in six unrelated patients. Intellectual deficit or slow development is also present. The mode of inheritance of this syndrome is unknown since all cases were sporadic." "" + "Graves disease, susceptibility to, 2" "" + "Osebold skeletal dysplasia/osteolysis syndrome" "" + "osteosclerotic chondrodysplasia, lethal, with intracellular inclusions" "" + "microcephaly, severe, with skeletal anomalies including posterior rib-Gap defects" "" + "Tonoki syndrome" "" + "activator of liver function 1" "" + "radioulnar synostosis-microcephaly-scoliosis syndrome" "An extremely rare syndrome characterized by the association of radioulnar synostosis with microcephaly, scoliosis, short stature and intellectual deficit." "" + "expansile bone lesions" "" + "Oroacral syndrome, Verloes-Koulischer type" "" + "arhinia, choanal atresia, and microphthalmia" "" + "obsolete hypospadias, hypertelorism, upper 51D coloboma, and mixed-type hearing loss" "" "true" + "Fanconi anemia complementation group F" "Fanconi anemia caused by mutations of the FANCF gene. This gene encodes a polypeptide with homology to the prokaryotic RNA-binding protein ROM." "" + "citrullinemia, type II, adult-onset" "Adult-onset citrullinemia type II is an inherited disorder that causes ammonia and other toxic substances to accumulate in the blood. The condition chiefly affects the nervous system, causing confusion, restlessness, memory loss, abnormal behaviors (such as aggression, irritability, and hyperactivity), seizures, and coma. These signs and symptoms can be life-threatening. The signs and symptoms appear during adulthood and are triggered by certain medications, infections, surgery, and alcohol intake.The features of adult-onset type II citrullinemia may also develop in people who as infants had a liver disorder called neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD). In many cases, the signs and symptoms of NICCD resolve within a year. Years or even decades later, however, some of these people develop the characteristic features of adult-onset type II citrullinemia.adult-onset citrullinemia type II is caused by mutations in the SLC25A13 gene. This condition is inherited in an autosomal recessive pattern." "" + "citrullinemia type II" "Citrullinemia type II is a severe subtype of citrin deficiency characterized clinically by adult onset (20 and 50 years of age), recurrent episodes of hyperammonemia and associated neuropsychiatric symptoms such as nocturnal delirium, confusion, restlessness, disorientation, drowsiness, memory loss, abnormal behavior (aggression, irritability, and hyperactivity), seizures, and coma." "" + "neuronal intranuclear inclusion disease" "Neuronal intranuclear inclusion disease (NIID) is a very rare multisystem neurodegenerative disorder characterized by the presence of eosinophilic intranuclear inclusions in neuronal and glial cells, and neuronal loss." "" + "obsolete autosomal dominant limb-girdle muscular dystrophy type 1E" "" "true" + "obsolete cerebral palsy, spastic quadriplegic, 1" "" "true" + "spinocerebellar ataxia type 10" "Spinocerebellar ataxia type 10 (SCA10) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by slowly progressive cerebellar syndrome and epilepsy, sometimes mild pyramidal signs, peripheral neuropathy and neuropsychological disturbances." "" + "congenital chylothorax" "Congenital chylothorax is a rare, potentially life-threatening neonatal condition characterized by the accumulation of chyle within the pleural space leading to respiratory distress, malnutrition and immunological compromise, either immediately after birth or within the first few weeks of life. Congenital chylothorax is the most common cause of pleural effusion in neonates; it can occur primarily due to developmental anomalies of the lymphatic duct or can be associated with chromosomal anomalies (e.g. Noonan syndrome, Turner syndrome and Down syndrome), hydrops fetalis, mediastinal neuroblastoma and other congenital malformations." "" + "Dyserythropoiesis, congenital, with ultrastructurally normal erythroblast heterochromatin" "" + "light fixation seizure syndrome" "" + "limb-mammary syndrome" "Limb-mammary syndrome (LMS) is a rare disease belonging to the group of ectodermal dysplasias." "" + "spondyloepimetaphyseal dysplasia with multiple dislocations" "A rare disorder caused by mutation in the KIF22 gene. It is characterized by short stature, midface retrusion, progressive knee malalignment, generalized ligamentous laxity, and mild spinal deformity." "" + "familial hemophagocytic lymphohistiocytosis 4" "Any genetic hemophagocytic lymphohistiocytosis in which the cause of the disease is a mutation in the STX11 gene." "" + "familial hemophagocytic lymphohistiocytosis 2" "Any genetic hemophagocytic lymphohistiocytosis in which the cause of the disease is a mutation in the PRF1 gene." "" + "Omenn syndrome" "An inflammatory condition characterized by erythroderma, desquamation, alopecia, chronic diarrhea, failure to thrive, lymphadenopathy, and hepatosplenomegaly, associated with severe combined immunodeficiency (SCID)." "" + "hereditary spastic paraplegia 8" "Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the WASHC5 gene." "" + "autosomal dominant pure spastic paraplegia" "Autosomal dominant form of pure hereditary spastic paraplegia." "" + "congenital tracheal stenosis" "" + "tracheal anomaly" "" + "microcephaly, facial abnormalities, micromelia, and intellectual disability" "" + "SLC35A1-CDG" "SLC35A1-CDG is an extremely rare form of CDG syndrome characterized clinically in the single reported case by repeated hemorrhagic incidents, including severe pulmonary hemorrhage." "" + "follicular atrophoderma, perioral pigmented, with milia and epidermoid cysts" "" + "parotitis, juvenile recurrent" "" + "facial dysmorphism, selective tooth agenesis, and choroid calcification" "" + "xanthinuria type II" "Type II xanthinuria, a type of classical xanthinuria, is a rare autosomal recessive disorder of purine metabolism characterized by the deficiency of both xanthine dehydrogenase and aldehyde oxidase, leading to the formation of urinary xanthine urolithiasis and leading, in some patients, to kidney failure. Other less common manifestations include arthropathy, myopathy and duodenal ulcer, while some patients remain asymptomatic." "" + "craniosynostosis with ectopia lentis" "" + "polydactyly" "A disease characterized by the presence of polydactyly, including syndromic and non-syndromic forms." "" + "non-syndromic polydactyly, syndactyly and/or hyperphalangy" "" + "osteoma of cranial vault, familial" "" + "autosomal dominant nonsyndromic hearing loss 17" "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the MYH9 gene." "" + "autosomal recessive nonsyndromic hearing loss 21" "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the TECTA gene." "" + "neuroendocrine carcinoma of salivary glands, sensorineural hearing loss, and enamel hypoplasia" "" + "atrial septal defect, secundum, with various cardiac and Noncardiac defects" "" + "situs inversus totalis with cystic dysplasia of kidneys and pancreas" "" + "cone-rod dystrophy 7" "Any cone-rod dystrophy in which the cause of the disease is a mutation in the RIMS1 gene." "" + "exostosis, Dupuytren subungual" "" + "eccrine syringofibroadenomatosis with eyelid abnormalities" "" + "syringofibroadenoma" "A rare, benign eccrine neoplasm usually arising on acral areas as a solitary papular or nodular lesion. Multiple lesions are referred as syringofibroadenomatosis. It is characterized by the presence of epithelial cuboidal cells forming anastomosing cords in a fibrovascular stroma." "" + "blue nevi, familial multiple" "" + "acromelic frontonasal dysostosis" "Acromelic frontonasal dysplasia (AFND) is a rare variant of frontonasal dysplasia characterized by distinct craniofacial (large fontanelle, hypertelorism, bifid nasal tip, nasal clefting, brachycephaly, median cleft face, carp-shaped mouth), brain (interhemispheric lipoma, agenesis of the corpus callosum), and limb (tibial hypoplasia/aplasia, club foot, symmetric preaxial polydactyly of the feet and bilateral clubbed and thickened nails of halluces) malformations as well as intellectual disability. Other manifestations sometimes reported include absent olfactory bulbs, hypopituitarism and cryptorchidism." "" + "autosomal recessive nonsyndromic hearing loss 14" "An autosomal recessive nonsyndromic deafness that has material basis in variation between D7S554 and D7S2459 in the chromosome region 7q31." "" + "prostate cancer/brain cancer susceptibility" "" + "myopathy, myofibrillar, 9, with early respiratory failure" "" + "TTN-related myopathy" "A disorder of the musculoskeletal system caused by pathogenic variants in the TTN gene encoding the titin protein expressed in striated muscle. These variants are associated with a variety of overlapping congenital and adult-onset myopathies characterized by non-progressive or progressive neck, axial, and limb weakness, joint contractures, early-onset respiratory insufficiency, facial weakness, congenital cardiac anomalies and/or early-onset dilated cardiomyopathy. Histologic findings on skeletal muscle biopsy reveal a wide range of structural abnormalities and can include increased internalized and central nuclei, minicores, and dystrophic changes." "" + "diabetes mellitus, noninsulin-dependent, 3" "" + "autosomal recessive nonsyndromic hearing loss 16" "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the STRC gene." "" + "blepharophimosis - intellectual disability syndrome, SBBYS type" "Blepharophimosis-intellectual disability syndrome, SBBYS type is characterised by the association of congenital hypothyroidism, facial dysmorphism (microcephaly, blepharophimosis, a bulbous nose, thin lip, low-set ears and micrognathia), postaxial polydactyly and severe intellectual deficit. Less than 20 cases have been reported so far. Cryptorchidism is present in affected males. Some patients also have cardiac anomalies (interventricular communication), hypotonia and growth delay. Autosomal recessive inheritance has been suggested." "" + "Acrodysplasia with ossification abnormalities, short stature, and fibular hypoplasia" "A hereditary disorder characterized by disproportionate short stature, a relatively large head, and a long triangular face early in life. This phenotype later evolves to one with in which the head is relatively small, the mandible is large and pointy. The affected individuals have normal cognitive abilities and lack any neurological deficits. Other typical features include a prominent nose, a voice with an unusual high-pitched sound, relatively small ears, curved digits (clinodactyly), short bones in fingers and toes (brachydactyly), small hands, underdeveloped (hypoplastic) fingernails, a waddling gait, and sparse hair post-pubertally." "" + "papillary thyroid Microcarcinoma" "A papillary carcinoma of the thyroid gland measuring 10mm or less in diameter. The survival rates of patients with this type of carcinoma are the same with those of the normal population." "" + "hypercholesterolemia, autosomal dominant, 3" "Any familial hypercholesterolemia in which the cause of the disease is a mutation in the PCSK9 gene." "" + "Stargardt disease 4" "Any Stargardt disease in which the cause of the disease is a mutation in the PROM1 gene." "" + "hydroa vacciniforme, familial" "An instance of hydroa vacciniforme that is caused by an inherited modification of the individual's genome." "" + "hydroa vacciniforme" "A rare skin disorder of unknown etiology affecting children. It is a photodermatitis, characterized by the formation of vesicles and scarring on sun exposed areas." "" + "microcephaly with simplified gyral pattern" "" + "urinary tract infections, recurrent, susceptibility to" "" + "hypercholesterolemia, familial, 4" "An autosomal recessive condition caused by mutation(s) in the LDLRAP1 gene, encoding low density lipoprotein receptor adaptor protein 1. The phenotype is similar to that of familial hypercholesterolemia, but generally considered to be a milder form of hypercholesterolemia." "" + "brittle bone disorder" "" + "ventricular fibrillation, paroxysmal familial, type 1" "" + "paroxysmal familial ventricular fibrillation" "A rare, genetic, cardiac rhythm disease characterized by ventricular fibrillation in the absence of any structural or functional heart disease, or known repolarization abnormalities. The presence of J waves is associated with a higher risk of nocturnal ventricular fibrillation events and a higher risk of recurrence." "" + "long QT syndrome 3" "An autosomal dominant condition caused by mutation(s) in the SCN5A gene, encoding sodium channel protein type 5 subunit alpha. It is characterized by a prolonged QT interval that may result in torsade de pointes, ventricular fibrillation and/or sudden cardiac death." "" + "obsolete CFM1" "" "true" + "obsolete medullary cystic kidney disease 2" "" "true" + "leukoencephalopathy with vanishing white matter" "A new leukoencephalopathy, the CACH syndrome (Childhood Ataxia with Central nervous system Hypomyelination) or VWM (Vanishing White Matter) was identified on clinical and MRI criteria. Classically, this disease is characterized by (1) an onset between 2 and 5 years of age, with a cerebello-spastic syndrome exacerbated by episodes of fever or head trauma leading to death after 5 to 10 years of disease evolution, (2) a diffuse involvement of the white matter on cerebral MRI with a CSF-like signal intensity (cavitation), (3) a recessive autosomal mode of inheritance, (4) neuropathologic findings consistent with a cavitating orthochromatic leukodystrophy with increased number of oligodendrocytes with sometimes ``foamy'' aspect." "" + "dominant beta-thalassemia" "Dominant beta-thalassemia is a form of beta-thalassemia resulting in moderate to severe anemia." "" + "sickle cell disease and related diseases" "" + "hematological disorder with renal involvement" "True" + "autoimmune lymphoproliferative syndrome type 2A" "A rare, primary immunodeficiency with an autosomal dominant pattern of inheritance but incomplete penetrance. It is caused by a mutation in the CASP10 (caspase-10) gene that leads to defective Fas-induced apoptosis. Disruption of Fas-induced apoptosis impairs lymphocyte homeostasis and immune tolerance. Characteristic laboratory findings include an increase in circulating, double-negative (CD4-/CD8-) T cells in the setting of immune-mediated anemia, thrombocytopenia and neutropenia. Clinical signs present in childhood include fatigue, pallor, bruising, hepatosplenomegaly and chronic, non-malignant, non-infectious lymphadenopathy. The clinical course is influenced by a strong association with other autoimmune disorders and an increased risk for developing Hodgkin and non-Hodgkin lymphoma." "" + "hypertension, essential, susceptibility to, 1" "" + "intervertebral disc degenerative disorder" "Any disease of a degenerative nature that affects the intervertebral disc." "" + "microvascular complications of diabetes, susceptibility to, 1" "Any microvascular complications of diabetes, susceptibility in which the cause of the disease is a mutation in the VEGFA gene." "" + "psoriasis 4, susceptibility to" "" + "obsolete cervical cancer" "" "true" + "autosomal dominant nonsyndromic hearing loss 16" "An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 2q23-q24.3." "" + "focal segmental glomerulosclerosis 2" "Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the TRPC6 gene." "" + "megalencephalic leukoencephalopathy with subcortical cysts" "Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a form of leukodystrophy that is characterized by infantile-onset macrocephaly, often with mild neurologic signs at presentation (such as mild motor delay), which worsen with time, leading to poor ambulation, falls, ataxia, spasticity, increasing seizures and cognitive decline. Brain magnetic resonance imaging reveals diffusely abnormal and mildly swollen white matter as well as subcortical cysts in the anterior temporal and frontoparietal regions." "" + "autosomal recessive nonsyndromic hearing loss 20" "An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 11q25-qter." "" + "hypoalphalipoproteinemia, primary, 1" "Any ypoalphalipoproteinemia in which the cause of the disease is a mutation in the ABCA1 gene." "" + "apolipoprotein A-I deficiency" "A rare lipoprotein metabolism disorder characterized biochemically by complete absence of apolipoprotein AI and extremely low plasma high density lipoprotein (HDL) cholesterol, and clinically by corneal opacities and xanthomas complicated with premature coronary heart disease (CHD)." "" + "obsolete keratosis pilaris atrophicans" "" "true" + "cone-rod dystrophy 3" "Any cone-rod dystrophy in which the cause of the disease is a mutation in the ABCA4 gene." "" + "loricrin keratoderma" "A diffuse palmoplantar keratoderma, characterized by honeycomb palmoplantar hyperkeratosis associated with pseudoainhum of the fifth digit of the hand, ichthyosis and deafness. Keratoderma hereditarium mutilans with ichthyosis follows an autosomal dominant mode of transmission." "" + "autosomal dominant cerebellar ataxia, deafness and narcolepsy" "Autosomal dominant cerebellar ataxia, deafness and narcolepsy (ADCA-DN) is a polymorphic disorder and a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1) characterized by ataxia, sensorineural deafness and narcolepsy with cataplexy and dementia." "" + "dystrophic epidermolysis bullosa pruriginosa" "Dystrophic epidermolysis bullosa pruriginosa is a rare subtype of dystrophic epidermolysis bullosa (DEB) characterized by generalized or localized skin lesions associated with severe, if not intractable, pruritus." "" + "alpha thalassemia" "Alpha-thalassemia is an inherited hemoglobinopathy characterized by impaired synthesis of alpha-globin chains leading to a variable clinical picture depending on the number of affected alleles." "" + "alpha-thalassemia and related diseases" "" + "dilated cardiomyopathy 1G" "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the TTN gene." "" + "Alzheimer disease without neurofibrillary tangles" "" + "congenital cataracts-facial dysmorphism-neuropathy syndrome" "Congenital Cataracts Facial Dysmorphism Neuropathy (CCFDN) syndrome is a complex developmental disorder of autosomal recessive inheritance." "" + "partial duplication of the short arm of chromosome 16" "Chromosome 16p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 16. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 16p duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Most cases are not inherited, but people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person." "" + "left ventricular noncompaction 1" "Any left ventricular noncompaction in which the cause of the disease is a mutation in the DTNA gene." "" + "Caronte" "" + "poikiloderma with neutropenia" "A skin disease characterized by poikiloderma, hyperkeratotic nails, generalized hyperkeratosis on palms and soles, neutropenia, short stature, and recurrent pulmonary infections. It has material basis in mutation in the C16ORF57 gene on chromosome 16q13." "" + "cholesteatoma, congenital" "" + "facial paresis, hereditary congenital, 2" "" + "congenital hereditary facial paralysis-variable hearing loss syndrome" "Congenital hereditary facial paralysis-variable hearing loss syndrome is an extremely rare autosomal recessive disorder characterized by bilateral facial palsy with masked facies, sensorineural hearing loss, dysmorphic features (midfacial retrusion, low-set ears), and strabismus." "" + "hereditary spastic paraplegia 10" "Autosomal dominant spastic paraplegia type 10 (SPG10) is a rare type of hereditary spastic paraplegia that can present as either a pure form of spastic paraplegia with lower limb spasticity, hyperreflexia and extensor plantar responses, presenting in childhood or adolescence, or as a complex phenotype associated with additional manifestations including peripheral neuropathy with upper limb amyotrophy, moderate intellectual disability and parkinsonism. Deafness and retinitis pigmentosa were reported in one case." "" + "hepatic fibrosis, severe, susceptibility to, due to Schistosoma mansoni infection" "" + "Hirschsprung disease with heart defects, laryngeal anomalies, and preaxial polydactyly" "" + "Chudley-McCullough syndrome" "" + "familial encephalopathy with neuroserpin inclusion bodies" "" + "cataract 9 multiple types" "Any cataract (disease) in which the cause of the disease is a mutation in the CRYAA gene." "" + "Peters anomaly" "Peters anomaly (PA) is a congenital corneal opacity disorder characterized by a central corneal leukoma that obstructs the pupil leading to visual loss as well as absence of the posterior corneal stroma and Descemet membrane." "" + "corneoiridogoniodysgenesis" "" + "Leber congenital amaurosis 3" "Any Leber congenital amaurosis in which the cause of the disease is a mutation in the SPATA7 gene." "" + "generalized epilepsy with febrile seizures plus, type 1" "" + "generalized epilepsy with febrile seizures plus" "A familial epilepsy syndrome in which family members display a seizure disorder from the generalized epilepsy with febrile seizures plus spectrum which ranges from simple febrile seizures (FS) to the more severe phenotype of myoclonic-astatic epilepsy (MAE) or Dravet syndrome (DS)." "" + "hemochromatosis type 3" "Type 3 hemochromatosis is a form of rare hereditary hemochromatosis (HH), a group of diseases characterized by excessive tissue iron deposition of genetic origin." "" + "dyslexia, susceptibility to, 3" "" + "camera-Marugo-Cohen syndrome" "" + "short stature due to partial GHR deficiency" "Short stature due to partial GHR deficiency is a rare, genetic, endocrine disease characterized by idiopathic short stature due to diminished GHR function (decreased ligand binding or reduced availability of receptor), thus resulting in partial insensitivity to growth hormone." "" + "mitochondrial complex V (ATP synthase) deficiency, nuclear type 1" "Any mitochondrial proton-transporting ATP synthase complex deficiency in which the cause of the disease is a mutation in the ATPAF2 gene." "" + "mitochondrial proton-transporting ATP synthase complex deficiency" "A rare, genetic, mitochondrial oxidative phosphorylation disorder that may present with a wide range of symptoms (including muscular hypotonia, hypertrophic cardiomyopathy, psychomotor delay, encephalopathy, peripheral neuropathy, lactic acidosis, 3-methylglutaconic aciduria) and clinical syndromes (including NARP and MILS)." "" + "autosomal recessive proximal renal tubular acidosis" "Autosomal recessive proximal renal tubular acidosis (AR pRTA) is a rare form of proximal renal tubular acidosis (pRTA) characterized by an isolated defect in the proximal tubule leading to the decreased reabsorption of bicarbonate and consequentially to urinary bicarbonate wastage along with additional characteristic clinical features." "" + "autosomal recessive limb-girdle muscular dystrophy type 2E" "Autosomal recessive limb girdle muscular dystrophy type 2E (LGMD2E) is a subtype of autosomal recessive limb girdle muscular dystrophy characterized by a childhood to adolescent onset of progressive pelvic- and shoulder-girdle muscle weakness, particularly affecting the pelvic girdle (adductors and flexors of hip). Usually the knees are the earliest and most affected muscles. In advanced stages, involvement of the shoulder girdle (resulting in scapular winging) and the distal muscle groups are observed. Calf hypertrophy, cardiomyopathy, respiratory impairment, tendon contractures, scoliosis, and exercise-induced myoglobinuria may be observed." "" + "qualitative or quantitative defects of beta-sarcoglycan" "" + "Carney triad" "Carney's triad is a rare non-hereditary condition characterized by gastrointestinal stromal tumors (GIST, intramural mesenchymal tumors of the gastrointestinal tract with neuronal or neural crest cell origin), pulmonary chondromas and extraadrenal paragangliomas." "" + "gastrointestinal stromal tumor" "Gastrointestinal stromal tumor (GIST) is the most common mesenchymal neoplasm of the gastrointestinal (GI) tract, typically presenting in adults over the age of 40 (mean age 63), and only rarely in children, in various regions of the GI tract, most commonly the stomach or small intestine but also less commonly in the esophagus, appendix, rectum and colon. GISTs can be asymptomatic or present with various non-specific signs, depending on the location and size of tumor, such as loss of appetite, anemia, weight loss, fatigue, abdominal discomfort or fullness, nausea, vomiting, as well as an abdominal mass, blood in stool, and intestinal obstruction. GISTs can also be seen in familial syndromes such as Carney triad and neurofibromatosis type 1." "" + "dilated cardiomyopathy 1H" "A dilated cardiomyopathy that has material basis in variation in the chromosome region 2q14-q22." "" + "aceruloplasminemia" "Aceruloplasminemia is an adult-onset disorder of neurodegeneration with brain iron accumulation (NBIA) characterized by anemia, retinal degeneration, diabetes and various neurological symptoms." "" + "Ascaris lumbricoides infection, susceptibility to" "" + "ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3" "Any EEC syndrome in which the cause of the disease is a mutation in the TP63 gene." "" + "juvenile idiopathic arthritis" "Juvenile idiopathic arthritis (JIA) is the term used to describe a group of inflammatory articular disorders of unknown cause that begin before the age of 16 and last over 6 weeks. The term juvenile idiopathic arthritis was chosen to signify the absence of any known mechanism underlying the disorder and to highlight the necessity of excluding other types of arthritis occurring in well defined diseases (in particular arthritis occurring in association with infectious, inflammatory and haematooncologic diseases)." "" + "secondary interstitial lung disease specific to childhood associated with a connective tissue disease" "True" + "pulverulent cataract" "A cataract that has material basis in heterozygous mutation in the CRYGC gene on chromosome 2q33." "" + "MASS syndrome" "A genetic disorder of connective tissue caused by mutations in the FBN1 gene. Connective tissue is the material between the cells of the body that gives tissues form and strength. Symptoms include mitral valve prolapse, nearsightedness, borderline and non-progressive aortic enlargement, and skin and skeletal findings that overlap with those seen in Marfan syndrome. Treatment is based on the individuals symptoms." "" + "blepharophimosis - intellectual disability syndrome, Verloes type" "" + "anemia, congenital hypoplastic, with multiple congenital anomalies/intellectual disability syndrome" "" + "psoriasis 5, susceptibility to" "" + "microcephaly 2, primary, autosomal recessive, with or without cortical malformations" "" + "autosomal recessive distal spinal muscular atrophy 1" "Spinal muscular atrophy with respiratory distress type 1 is a rare genetic motor neuron disease characterized by severe respiratory distress/respiratory failure in association with diaphragmatic eventration and palsy, as well as progressive, symmetrical, distal-to-proximal muscle weakness and atrophy (in lower limbs especially). Patients typically have a history of intrauterine growth retardation, low birth weight, feeble cry, weak suck and failure to thrive and present with inspiratory stridor, recurrent episodes of dyspnea or apnea, cyanosis and absent deep tendon reflexes. Kyphosis/scoliosis, foot deformities and joint contractures are frequently associated features." "" + "autosomal recessive distal hereditary motor neuropathy" "Autosomal recessive form of distal hereditary motor neuropathy." "" + "microcephaly 4, primary, autosomal recessive" "" + "spinocerebellar ataxia type 12" "Spinocerebellar ataxia type 12 (SCA12) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by the presence of action tremor associated with relatively mild cerebellar ataxia. Associated pyramidal and extrapyramidal signs and dementia have been reported." "" + "hypertension, essential, susceptibility to, 2" "" + "complex regional pain syndrome type 1" "Complex regional pain syndrome type 1 (CRPS1) is a form of complex regional pain syndrome in which the pain is disproportionate to any known inciting event and is characterized by continuous pain, allodynia, or hyperalgesia as well as edema, coloration (changes in skin blood flow), or abnormal sudomotor activity in the region of pain. Onset of CRPS1 symptoms may occur within a few days to a month after an injury or trauma to the affected limb." "" + "advanced sleep phase syndrome 1" "Any advanced sleep phase syndrome in which the cause of the disease is a mutation in the PER2 gene." "" + "advanced sleep phase syndrome" "Familial advanced sleep-phase syndrome (FASPS) is a very rare circadian rhythm sleep disorder characterized by very early sleep onset and offset possibly resulting in emotional and physical disruptions." "" + "febrile seizures, familial, 4" "Any febrile seizures, familial in which the cause of the disease is a mutation in the ADGRV1 gene." "" + "Duane retraction syndrome 2" "Any Duane retraction syndrome in which the cause of the disease is a mutation in the CHN1 gene." "" + "hereditary spastic paraplegia 11" "Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the SPG11 gene." "" + "myoclonic epilepsy, congenital deafness, macular dystrophy, and psychiatric disorders" "" + "obsolete epilepsy, familial focal, with variable foci" "" "true" + "PPARG-related familial partial lipodystrophy" "" + "Salla disease" "Salla disease is the mildest form of the free sialic acid storage disorders, which primarily affect the nervous system. Infants with Salla disease typically begin to experience poor muscle tone (hypotonia) during the first year of life,followed by slowly progressive neurological problems. Signs and symptoms include intellectual disability and developmental delay; seizures ; ataxia ; muscle spasticity; and involuntary slow movements of the limbs (athetosis). About one-third of affected children learn to walk. It is caused by mutations in the SLC17A5 gene and is inherited in an autosomal recessive manner. Treatment is generally symptomatic and supportive." "" + "breast-ovarian cancer, familial, susceptibility to, 1" "Any hereditary breast ovarian cancer syndrome in which the cause of the disease is a mutation in the BRCA1 gene." "" + "cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1" "Any fatal infantile encephalocardiomyopathy in which the cause of the disease is a mutation in the SCO2 gene." "" + "fatal infantile encephalocardiomyopathy" "Fatal infantile cytochrome C oxidase deficiency is a very rare mitochondrial disease characterized clinically by cardioencephalomyopathy resulting in death in infancy." "" + "hypotrichosis 7" "Any hypotrichosis in which the cause of the disease is a mutation in the LIPH gene." "" + "ulnar ray dysgenesis with postaxial polydactyly and renal cystic dysplasia" "" + "patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome" "Patent ductus arteriosus - bicuspid aortic valve - hand anomalies syndrome is a very rare heart-hand syndrome that is characterized by a variety of cardiovascular anomalies including patent arterial duct, bicuspid aortic valve and pseudocoarctation of the aorta in conjunction with hand anomalies such as brachydactyly and ulnar ray derivative i.e. fifth metacarpal hypoplasia. Transmission is most likely autosomal dominant." "" + "lissencephaly, familial, with cleft palate and cerebellar hypoplasia" "" + "nephronophthisis 3" "Any nephronophthisis in which the cause of the disease is a mutation in the NPHP3 gene." "" + "Leber congenital amaurosis 4" "Any Leber congenital amaurosis in which the cause of the disease is a mutation in the AIPL1 gene." "" + "AIPL1-related retinopathy" "A retinopathy caused by biallelic variants in the AIPL1 gene." "" + "arrhythmogenic right ventricular dysplasia 5" "Any arrhythmogenic right ventricular cardiomyopathy in which the cause of the disease is a mutation in the TMEM43 gene." "" + "arrhythmogenic right ventricular dysplasia 6" "An arrhythmogenic right ventricular dysplasia associated with variation in the region 10p14-p12." "" + "generalized epilepsy with febrile seizures plus, type 2" "Any febrile seizures, familial in which the cause of the disease is a mutation in the SCN1A gene." "" + "pyogenic arthritis-pyoderma gangrenosum-acne syndrome" "A rare pleiotropic autoinflammatory disorder of childhood, primarily affecting the joints and skin." "" + "polyneuropathy, lethal neonatal, axonal sensorimotor, autosomal recessive" "A rare, genetic, autosomal recessive axonal hereditary motor and sensory neuropathy disease characterized by prenatal onset of a severe sensorimotor axonal polyneuropathy (reflected by reduced fetal movement and polyhydramnios), manifesting, at birth, with respiratory failure requiring mechanical ventilation, profound muscular hypotonia, rapidly progressing distal muscle weakness, and absent deep tendon reflexes, in the absence of contractures, leading to death before 8 months of age. Neuropathological findings show severe loss of large- and medium-sized myelinated fibers without signs of demyelination." "" + "spinocerebellar ataxia type 11" "Spinocerebellar ataxia type 11 (SCA11) is a subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by the early-onset of cerebellar signs, eye movement abnormalities and pyramidal signs." "" + "infundibulocystic basal cell carcinoma" "" + "distal myopathy, Welander type" "Welander distal myopathy (WDM) is a distal myopathy, characterized by weakness in the distal upper extremities, usually finger and wrist extensors which later progresses to all hand muscles and distal lower extremity, primarily in toe and ankle extensors." "" + "obsolete human herpesvirus type 6, integrated" "" "true" + "hereditary motor and sensory neuropathy, Okinawa type" "Hereditary motor and sensory neuropathy, Okinawa type is a rare, genetic, axonal hereditary motor and sensory neuropathy characterized by the adult-onset of slowly progressive, symmetric, proximal dominant muscle weakness and atrophy, painful muscle cramps, fasciculations and distal sensory impairment, mostly (but not exclusively) in individuals (and their descendents) from the Okinawa region in Japan. Absent deep tendon reflexes, elevated creatine kinase levels and autosomal dominant inheritance are also characteristic." "" + "congenital amegakaryocytic thrombocytopenia" "Congenital amegakaryocytic thrombocytopenia (CAMT) is a rare inherited bone marrow failure syndrome characterized by an isolated and severe decrease in the number of platelets and megakaryocytes during the first years of life that develops into bone marrow failure with pancytopenia later in childhood." "" + "hyperlipidemia, combined, 2" "" + "inflammatory bowel disease 3" "An inflammatory bowel disease that has material basis in variation in the chromosome region 6p21.3." "" + "epidermolysis bullosa simplex due to plakophilin deficiency" "Epidermolysis bullosa simplex due to plakophilin deficiency (EBS-PD) is a suprabasal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized superficial erosions and less commonly blistering." "" + "suprabasal epidermolysis bullosa simplex" "A form of epidermolysis bullosa simplex in which blistering occurs above the basal keratinocytes." "" + "Leber congenital amaurosis 5" "Any Leber congenital amaurosis in which the cause of the disease is a mutation in the LCA5 gene." "" + "LCA5-related retinopathy" "A retinopathy caused by biallelic variants in the LCA5 gene." "" + "progressive familial heart block type IB" "Any progressive familial heart block in which the cause of the disease is a mutation in the TRPM4 gene." "" + "Charcot-Marie-Tooth disease type 4B2" "Charcot-Marie-Tooth disease type 4B2 (CMT4B2) is a subtype of Charcot-Marie-Tooth type 4 characterized by a severe, early childhood-onset of demyelinating sensorimotor neuropathy, early-onset glaucoma, focally folded myelin sheaths in the peripheral nerves, severely reduced nerve conduction velocities, and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, sensory loss, and frequent pes cavus). Severe visual impairment leading to visual loss has also been reported." "" + "tooth agenesis, selective, 3" "Any tooth agenesis in which the cause of the disease is a mutation in the PAX9 gene." "" + "growth and developintellectual disability, ocular ptosis, cardiac defect, and anal atresia" "" + "postural orthostatic tachycardia syndrome" "A condition characterized by development of symptoms while standing. It is an autonomic nervous system disorder and the symptoms are relieved once the person sits back down. Symptoms include heart." "" + "autosomal dominant nonsyndromic hearing loss 20" "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the ACTG1 gene." "" + "craniosynostosis 2" "A form of syndromic craniosynostosis, characterized by a highly variable craniosynostosis with frontal bossing, turribrachycephaly and cloverleaf skull anomaly. Hypoplasia of the supraorbital ridges, cleft palate, extra teeth and limb anomalies (triphalangeal thumb, 3-4 syndactyly of the hands, a short first metatarsal, middle phalangeal agenesis in the feet) have also been described. Associated problems include headache, poor vision, and seizures. Intelligence is normal." "" + "dilated cardiomyopathy 1I" "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the DES gene." "" + "polycystic bone disease" "" + "catecholaminergic polymorphic ventricular tachycardia 1" "Polymorphic ventricular tachycardia induced by adrenergic stress. It is inherited in an autosomal dominant pattern and is caused by mutations in the ryanodine receptor 2 (RYR2) gene." "" + "catecholaminergic polymorphic ventricular tachycardia" "Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a severe genetic arrhythmogenic disorder characterized by adrenergically induced ventricular tachycardia (VT) manifesting as syncope and sudden death." "" + "autosomal recessive congenital ichthyosis 5" "An autosomal recessive congenital ichthyosis characterized by fine white or greyish-white scales, hyperkeratosis, moderate acanthosis, and moderate parakeratosis that has material basis in homozygous mutation in the CYP4F22 gene on chromosome 19p13." "" + "congenital muscular dystrophy 1B" "Congenital muscular dystrophy type 1B is a rare, genetic neuromuscular disorder characterized by proximal and symmetrical muscle weakness (particularly of neck, sternomastoid, facial and diaphragm muscles), spinal rigidity, joint contractures (Achilles tendon, elbows, hands), generalized muscle hypertrophy and early respiratory failure (usually in the first decade of life). Patients typically present delayed motor milestones and grossly elevated serum creatine kinase levels, and with disease progression, forced expiratory abdominal squeeze and nocturnal hypoventilation." "" + "Huntington disease-like 3" "Huntington disease-like 3 is a rare Huntington disease-like syndrome characterized by childhood-onset progressive neurologic deterioration with pyramidal and extrapyramidal abnormalities, chorea, dystonia, ataxia, gait instability, spasticity, seizures, mutism, and (on brain MRI) progressive frontal cortical atrophy and bilateral caudate atrophy." "" + "microcephaly 3, primary, autosomal recessive" "Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CDK5RAP2 gene." "" + "hereditary spastic paraplegia 12" "Autosomal dominant spastic paraplegia type 12 is a pure form of hereditary spastic paraplegia characterized by a childhood- to adulthood-onset of slowly progressive lower limb spasticity and hyperreflexia of lower extremities, extensor plantar reflexes, distal sensory impairment, variable urinary dysfunction and pes cavus." "" + "diffuse panbronchiolitis" "Diffuse panbronchiolitis is a rare chronic inflammatory obstructive pulmonary disease primarily affecting the respiratory bronchioles throughout both lungs and inducing sinobronchial infection. Onset occurs in the second to fifth decade of life and manifests by chronic cough, exertional dyspnea, and sputum production. Most patients also have chronic paranasal sinusitis" "" + "epilepsy, idiopathic generalized, susceptibility to, 7" "" + "mandibulofacial dysostosis syndrome, Bauru type" "" + "Stickler syndrome type 2" "Stickler syndrome is an inherited vitreoretinopathy characterized by the association of ocular signs with more or less complete forms of Pierre-Robin sequence, bone disorders, and sensorineural deafness (10% of cases). Stickler syndrome type 2 is caused by mutations in the COL11A1 gene (1p21)." "" + "hyaluronan metabolism, defect 1N" "" + "obsolete Langerhans-cell histiocytosis" "" "true" + "mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis" "Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis is a type 2 collagen-related bone disorder characterized by precocious, generalized osteoarthritis (with onset as early as childhood) and mild, dysplastic spinal changes (flattening of vertebrae, irregular endplates and wedge-shaped deformities) resulting in a mildly short trunk." "" + "hereditary North American Indian childhood cirrhosis" "Hereditary North American Indian childhood cirrhosis is a severe autosomal recessive intrahepatic cholestasis that has only been described in aboriginal children from northwestern Quebec. Manifesting first as transient neonatal jaundice, the disease evolves into periportal fibrosis and cirrhosis during a period ranging from childhood to adolescence." "" + "schizophrenia 9" "A schizophrenia that has material basis in a mutation of DISC1 on chromosome 1q42.2." "" + "Okamoto syndrome" "Okamoto syndrome is characterised by congenital hydronephrosis, intellectual deficit, growth retardation, cleft palate, generalised hypotonia and a characteristic face. Cardiac anomalies have also been reported. To date, 6 cases have been reported." "" + "Becker nevus syndrome" "Becker nevus syndrome is characterized by the presence of a Becker nevus in association withunderdevelopment (hypoplasia)of the breast or other skin-related, muscular, or skeletal defects, all of which usually involve the same side of the bodyas the nevus (ipsilateral). Specific signs and symptoms in addition to the nevus may include ipsilateral breast hypoplasia;skeletal abnormalities such ashypoplasia of the shoulder girdle, scoliosis, fused ribs, and ipsilateral shortness of the arm; and several other features. Thecondition is thought to be sporadic (occurring in individuals with no history of the condition in the family). Treatment varies depending upon the specific symptoms present and the extent of the condition in the affected individual." "" + "wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia" "Skeletal dysplasia with wormian bone-multiple fractures-dentinogenesis imperfecta is a skeletal disorder, reported in three patients to date, characterized clinically by multiple fractures, wormian bones of the skull, dentinogenesis imperfecta and facial dysmorphism (hypertelorism, periorbital fullness). Although the signs are very similar to osteogenesis imperfecta, characteristic cortical defects in the absence of osteopenia and collagen abnormalities are considered to be distinctive. There have been no further descriptions in the literature since 1999." "" + "malformative syndrome with dentinogenesis imperfecta" "True" + "Wolfram syndrome 2" "Any Wolfram syndrome in which the cause of the disease is a mutation in the CISD2 gene." "" + "cortisone reductase deficiency 1" "Decreased activity of hexose-6-phosphatase due to autosomal recessive mutation(s) in the H6PD gene. This enzyme is necessary to generate NADPH, a cofactor in the 11-beta-hydroxysteroid dehydrogenase pathway required for conversion of cortisone to cortisol. The condition is characterized by hyperandrogenism as a result of increased adrenocorticotropic hormone stimulation of the adrenal gland due to failure of cortisol-mediated down-regulation, and is clinically indistinguishable from 11-beta HSD type 1 deficiency." "" + "NDE1-related microhydranencephaly" "NDE1-related microhydranencephaly is a rare, hereditary syndrome with a central nervous system malformation as major feature characterized by extreme microcephaly and growth restriction, severe motor delay and mental retardation, and typical radiological findings of gross dilation of the ventricles resulting from the absence (or severe delay in the development) of cerebral hemispheres, hypoplasia of the corpus callosum, cerebellum, and brainstem. Associated features are thin bones and scalp rugae." "" + "sporadic fetal brain disruption sequence" "Sporadic fetal brain disruption sequence is a rare, non-syndromic, central nervous system malformation disorder characterized by severe microcephaly (average occipitofrontal circumference -5.8 SD), overlapping sutures, keel-like occipital bone prominence, scalp rugae with normal hair pattern and signs of neurological impairment. Brain imaging may show ventriculomegaly, cortical tissue deficit, and hydranencephaly." "" + "familial hypobetalipoproteinemia 2" "Any hypobetalipoproteinemia in which the cause of the disease is a mutation in the ANGPTL3 gene." "" + "familial infantile myoclonic epilepsy" "" + "myoclonic epilepsy of infancy" "" + "diabetes mellitus, congenital autoimmune" "" + "lymphoma, non-Hodgkin, familial" "" + "low density lipoprotein cholesterol, mild elevation of" "" + "Bohring-Opitz syndrome" "Bohring-Opitz syndrome is characterised by intrauterine growth retardation (IUGR), failure to thrive, facial dysmorphism (prominent metopic suture and forehead nevus flammeus, a low frontal and temporal hairline with hirsutism, puffy cheeks, upslanting palpebral fissures, exophthalmos, hypertelorism, cleft lip and palate, retrognathia and low set ears), flexion deformities of the elbows and wrists, camptodactyly, ulnar deviation of the fingers, foot anomalies and severe developmental delay. Less than 20 patients have been described so far. Although the large majority of reported cases occurred sporadically, autosomal recessive inheritance has also been reported." "" + "clavicular hypoplasia, zygomatic arch hypoplasia, and micrognathia" "" + "palpebral piliary tumor" "" + "Alzheimer disease, familial early-onset, with coexisting amyloid and prion pathology" "" + "tricuspid atresia" "Tricuspid atresia is (TA) a rare congenital heart malformation characterized by the congenital agenesis of tricuspid valve leading to severe hypoplasia of right ventricle (functionally univentricular). TA is associated with normally related or transposed great vessels (TGV), an obligatory interatrial connection that is crucial for survival (patent foramen ovale or atrial septal defect, osteum secondum type), ventricular septal defect (in 90% cases), pulmonary outflow obstruction - pulmonary atresia, stenosis or hypoplasia (usually in TA with normally related vessels but also in TGV), aortic coarctation and/or aortic arch interruption (usually in TA with TGV)." "" + "obsolete papillary renal cell carcinoma" "" "true" + "early response to neural induction gene" "" + "pseudohyperaldosteronism type 2" "Hypertension due to gain-of-function mutations in the mineralocorticoid receptor is a rare genetic hypertension characterized by a familial severe hypertension with an onset before age 20 years, associated with suppressed plasma renin and low aldosterone levels in the presence of low or normal levels of the mineralocorticoid aldosterone, that is highly resistant to antihypertensive medication. During pregnancy, there is a marked exacerbation of hypertension, accompanied by low serum potassium levels and undetectable aldosterone levels, but without signs of preeclampsia, requiring early delivery." "" + "Wiedemann-Steiner syndrome" "Wiedemann-Steiner syndrome is a rare genetic condition characterized by distinctive facial features, hairy elbows, short stature, and intellectual disability. This condition is caused by changes (mutations) in the KMT2A gene (also known as the MLL gene). It is inherited in an autosomal dominant manner. Most cases result from new (de novo) mutations that occur only in an egg or sperm cell, or just after conception. Treatment is symptomatic and supportive and may include special education classes and speech and occupational therapies aimed at increasing motor functioning and language." "" + "autosomal dominant nonsyndromic hearing loss 23" "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the SIX1 gene." "" + "systemic lupus erythematosus, susceptibility to, 2" "" + "inflammatory bowel disease 7" "An inflammatory bowel disease that has material basis in variation in the chromosome region 1p36." "" + "hereditary spastic paraplegia 14" "A hereditary spastic paraplegia that has material basis in variation in the chromosome region 3q27-q28." "" + "Bardet-Biedl syndrome 6" "" + "Dianzani autoimmune lymphoproliferative disease" "Dianzani autoimmune lymphoproliferative disease (DALD) is a very rare disorder characterized by autoimmunity, lymphadenopathy and/or splenomegaly." "" + "Carney complex type 2" "" + "obsolete Sebastian syndrome" "" "true" + "Charcot-Marie-Tooth disease type 4E" "Charcot-Marie-Tooth disease type 4E (CMT4E) is a congenital, hypomyelinating subtype of Charcot-Marie-Tooth disease type 4 characterized by a Dejerine-Sottas syndrome-like phenotype (incl. hypotonia and/or delayed motor development in infancy), extremely slow nerve conduction velocities, potential respiratory dysfunction, cranial nerve involvement, and the typical CMT phenotype, i.e. distal muscle weakness and atrophy, sensory loss, and foot deformity." "" + "neuropathy, congenital hypomelinating" "" + "hyper-IgM syndrome type 2" "A hyper-IgM syndrome characterized by the absence of immunoglobulin class switch recombination, the lack of immunoglobulin somatic hypermutations, and lymph node hyperplasia caused by the presence of giant germinal centers." "" + "hyper-IgM syndrome without susceptibility to opportunistic infections" "" + "spinocerebellar ataxia type 13" "Spinocerebellar ataxia type 13 (SCA13) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by onset in childhood marked by delayed motor and cognitive development followed by mild progression of cerebellar ataxia." "" + "mesomelic dysplasia, Savarirayan type" "Mesomelic dysplasia, Savarirayan type is characterised by severely hypoplastic and triangular-shaped tibiae, and absence of the fibulae. So far, two sporadic cases have been described. Moderate mesomelia of the upper limbs, proximal widening of the ulnas, pelvic anomalies and marked bilateral glenoid hypoplasia were also reported." "" + "Noonan syndrome 2" "" + "hereditary spastic paraplegia 13" "Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the HSPD1 gene." "" + "temtamy preaxial brachydactyly syndrome" "An autosomal recessive disease that is characterized by brachydactyly, hyperphalangism of digits, facial dysmorphism, dental anomalies, sensorineural hearing loss, delayed motor and mental development, and growth retardation and has material basis in homozygous mutation in the CHSY1 gene." "" + "Charcot-Marie-Tooth disease type 4G" "Charcot-Marie-Tooth disease type 4G (CMT4G) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by early childhood onset of progressive distal muscle weakness and atrophy, delayed motor development, prominent distal sensory impairment, areflexia, moderately reduced nerve conduction velocities, and foot and hand deformities in Balkan (Russe) Gypsies." "" + "split hand-foot malformation 4" "Any split hand-foot malformation in which the cause of the disease is a mutation in the TP63 gene." "" + "optic atrophy 4" "" + "macrocephaly-autism syndrome" "An autosomal dominant disease characterized by macrocephaly, facial phenotypes including square outline with frontal bossing, 'dished-out' midface, biparietal narrowing, and long philtrum, developmental delay and autism that has material basis in heterozygous mutation in the PTEN gene on chromosome 10q23." "" + "frontoocular syndrome" "" + "nemaline myopathy 5" "Amish nemaline myopathy is a type of nemaline myopathy (NM) only observed in several families of the Amish community." "" + "qualitative or quantitative defects of troponin" "" + "congenital nemaline myopathy" "" + "spinocerebellar ataxia type 14" "Spinocerebellar ataxia type 14 (SCA14) is a rare mild subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by slowly progressive ataxia, dysarthria and nystagmus." "" + "dilated cardiomyopathy 1J" "An extremely rare autosomal dominant syndrome described in two families to date and characterized by moderate to severe sensorineural hearing loss manifesting during childhood, and associated with late-onset dilated cardiomyopathy that generally progresses to heart failure." "" + "psoriasis 6, susceptibility to" "" + "obsolete BRCA3" "" "true" + "paragangliomas 3" "Any paraganglioma in which the cause of the disease is a mutation in the SDHC gene." "" + "autosomal dominant nocturnal frontal lobe epilepsy 3" "Any autosomal dominant nocturnal frontal lobe epilepsy in which the cause of the disease is a mutation in the CHRNB2 gene." "" + "heterotaxy, visceral, 2, autosomal" "" + "cataract 31 multiple types" "Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CHMP4B gene." "" + "cerebral palsy, ataxic, autosomal recessive" "" + "hypotrichosis 1" "Any hypotrichosis in which the cause of the disease is a mutation in the APCDD1 gene." "" + "fibromatosis, gingival, with hypertrichosis and intellectual disability" "" + "TH-deficient dopa-responsive dystonia" "Autosomal recessive dopa-responsive dystonia (DYT5b) is a very rare neurometabolic disorder characterized by a spectrum of symptoms ranging from those seen in dopa-responsive dystonia (DRD) to progressive infantile encephalopathy." "" + "tyrosine hydroxylase deficiency" "Tyrosine hydroxylase (TH) deficiency is an autosomal recessive disorder characterized by a spectrum of phenotypic features, based on severity and response to levodopa. It can be broadly categorized into TH-deficient dopa-responsive dystonia (mild, with dramatic and sustained response to levodopa), TH-deficiency infantile parkinsonism with motor delay (severe, with incomplete response to levodopa), and TH-deficiency infantile encephalopathy (very severe, with little to no response to levodopa)." "" + "schizophrenia 10" "A schizophrenia that has material basis in an autosomal dominant mutation of SCZD10 on chromosome 15q15." "" + "autosomal recessive nonsyndromic hearing loss 26" "An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 4q31." "" + "deafness, nonsyndromic, modifier 1" "True" + "radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome" "Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome is characterised by the association of proximal fusion of the radius and ulna with congenital amegakaryocytic thrombocytopaenia. Less than 10 cases have been reported in the literature so far. The syndrome is transmitted as an autosomal dominant trait and is caused by mutations in the HOXA11 gene (7p15)." "" + "basal cell carcinoma, susceptibility to, 1" "" + "radiation sensitivity/chromosome instability syndrome, autosomal dominant" "" + "Usher syndrome type 2C" "A form of Usher syndrome type 2 that features a heterozygous frameshift mutation in the GPR98 gene and a heterozygous frameshift mutation in the PDZD7 gene. It is inherited in an autosomal recessive manner." "" + "systemic lupus erythematosus, susceptibility to, 3" "" + "Alzheimer disease 6" "An Alzheimer's disease that is characterized by an associated with variation in the region 10q24." "" + "autosomal dominant Parkinson disease 4" "A late onset Parkinson disease that has material basis in heterozygous triplication of the alpha-synuclein gene (SNCA) on chromosome 4q22." "" + "fibromatosis, gingival, 2" "" + "cone-rod dystrophy 8" "A cone-rod dystrophy that has material basis in variation in the chromosome region 1q12-q24." "" + "metabolic syndrome X" "" + "abdominal obesity-metabolic syndrome quantitative trait locus 2" "" + "dilated cardiomyopathy 1K" "A dilated cardiomyopathy that has material basis in variation in the chromosome region 6q12-q16." "" + "autosomal dominant nonsyndromic hearing loss 25" "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the SLC17A8 gene." "" + "Charcot-Marie-Tooth disease type 2B1" "Charcot-Marie-Tooth disease, type 2B1 (CMT2B1, also referred to as CMT4C1) is an axonal CMT peripheral sensorimotor polyneuropathy." "" + "Charcot-Marie-Tooth disease type 2B2" "Charcot-Marie-Tooth disease, type 2B2 (CMT2B2, also referred to as CMT4C3) is an axonal CMT peripheral sensorimotor polyneuropathy that has been described in a large consanguineous Costa Rican family of Spanish ancestry." "" + "deafness, autosomal dominant 39, with dentinogenesis imperfecta 1" "" + "type 1 diabetes mellitus 18" "A type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 5q31.1-q33.1." "" + "psoriasis 7, susceptibility to" "" + "tetralogy of fallot syndrome, autosomal recessive" "" + "cerebrooculonasal syndrome" "Cerebro-oculo-nasal syndrome is a multisystem malformation syndrome that has been reported in about 10 patients. The clinical features include bilateral anophthalmia, abnormal nares, central nervous system anomalies, and neurodevelopmental delay." "" + "familial hyperaldosteronism type II" "Familial hyperaldosteronism type II (FH-II) is a heritable form of primary aldosteronism (PA) characterized by hypertension of varying severity, and non glucocticoid remediable hyperaldosteronism." "" + "myopathy, proximal, and ophthalmoplegia" "" + "familial papillary thyroid carcinoma with renal papillary neoplasia" "Familial papillary thyroid carcinoma with renal papillary neoplasia (fPTC/PRN) is an extremely rare inherited tumor syndrome within the familial nonmedullary thyroid cancer group (fNMTC)." "" + "late-onset retinal degeneration" "Late-onset retinal degeneration is an inherited retinal dystrophy characterized by delayed dark adaptation and nyctalopia and drusen deposits presenting in adulthood, followed by cone and rod degeneration that presents in the sixth decade of life, which leads to central vision loss. Anterior segment features such as peripupillary iris transillumination defects and abnormally long anterior zonular insertions are also observed. Choroidal neovascularization and glaucoma may occur in the late stages of the disease." "" + "cerebellar ataxia and hypergonadotropic hypogonadism" "" + "arrhythmogenic cardiomyopathy with woolly hair and keratoderma" "A cardioectodermal syndrome that is often associated with the gene DSP, encoding desmoplakin. Desmoplakin is a member of the plakin family of cell adhesion molecules that are responsible for the formation and maintenance of desmosomes. Variation in DSP is associated with cardiomyopathic manifestations that include: (1) seemingly isolated arrhythmogenic right ventricle cardiomyopathy (ARVC) that is atypical and can show left ventricle dominance, or be present in the left and right ventricle simultaneously; and (2) dilated cardiomyopathy. Cutaneous phenotypes including woolly hair and/or keratoderma can present along with the cardiomyopathy, but are noted as less penetrant features." "" + "multiple mitochondrial dysfunctions syndrome 1" "Any fatal multiple mitochondrial dysfunctions syndrome in which the cause of the disease is a mutation in the NFU1 gene." "" + "fatal multiple mitochondrial dysfunctions syndrome" "Multiple mitochondrial dysfunctions syndrome describes a group of rare inborn errors of energy metabolism due to defects in mitochondrial [4Fe-4S] protein assembly. Patients present with a neonatal/infancy onset of metabolic lactic acidosis (that may be associated with hyperglycinemia and other abnormal metabolic testing results), muscular hypotonia, absence of psychomotor development or developmental regression, as well as abnormal neuroimaging findings (including leukodystrophy, brain developmental defects, white matter abnormalities, cerebral atrophy), and other variable clinical features (e.g., optic atrophy, cardiomyopathy, pulmonary hypertension, seizures, and dysmorphic features). Early fatal outcome is usual." "" + "cerebral amyloid angiopathy, APP-related" "A cerebral amyloid angiopathy that has material basis in an autosomal dominant mutation of APP on chromosome 21q21.3." "" + "Fanconi anemia complementation group D1" "Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations is a rare cancer-predisposing syndrome, associated with the D1 subgroup of Fanconi anemia (FA), characterized by progressive bone marrow failure, cardiac, brain, intestinal or skeletal abnormalities and predisposition to various malignancies. Bone marrow suppression and the incidence of developmental abnormalities are less frequent than in other FA, but cancer risk is very high with the spectrum of childhood cancers including Wilms tumor, brain tumor (often medulloblastoma) and ALL/AML." "" + "autosomal recessive distal spinal muscular atrophy 2" "Distal hereditary motor neuropathy, Jerash type is a rare, genetic neuromuscular disease characterized by progressive, symmetrical, moderate to severe, distal muscle weakness and atrophy, without sensory involvement, first affecting the lower limbs (towards the end of the first decade) and then involving (within two years) the upper extremities. Patients typically develop foot drop, pes varus, hammer toes and claw hands. Pyramidal tract signs (e.g. brisk knee reflexes, positive Babinski sign, absent ankle reflexes) are initially associated but regress as disease stabilizes (~10 years after onset)." "" + "otosclerosis 2" "" + "cataract 25" "A cataract that has material basis in variation in the region 15q21-q22." "" + "early-onset sutural cataract" "" + "platelet-type bleeding disorder 12" "An inherited blood coagulation disease characterized by autosomal dominant inheritance of mildly increased bleeding, platelet aggregation defect, and impaired conversion of arachidonic acid to thromboxane A2 in platelets due to deficiency in PTGS1 activity." "" + "microphthalmia with coloboma 2" "" + "anisomastia" "" + "cataract 26 multiple types" "A cataract that has material basis in variation in the region 9q13-q22." "" + "exudative vitreoretinopathy 3" "" + "seizures, benign familial infantile, 2" "" + "ovarian dysgenesis, hypergonadotropic, with short stature and recurrent metabolic acidosis" "" + "nonsyndromic congenital nail disorder 7" "" + "atopic dermatitis 2" "Any atopic eczema in which the cause of the disease is a mutation in the FLG gene." "" + "atopic dermatitis 3" "An atopic dermatitis associated with variation in the region 20p." "" + "atopic dermatitis 4" "An atopic dermatitis associated with variation in the region 17q25.3." "" + "birdshot chorioretinopathy" "Birdshot chorioretinopathy is a posterior uveitis characterized by multiple cream-colored, hypopigmented choroidal lesions in the fundus and a strong association with HLA-A29 and clinically presenting with blurred vision, floaters, photopsia, scotoma and nyctalopia." "" + "non-infectious posterior uveitis" "" + "congenital myasthenic syndrome 4A" "A congenital myasthenic syndrome characterized by postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and prolonged opening and activity of the acetylcholine receptor channel that has material basis in heterozygous or rarely biallelic mutation in the CHRNE gene on chromosome 17p13." "" + "neonatal intrahepatic cholestasis due to citrin deficiency" "Neonatal intrahepatic cholestasis due to citrin deficiency is a mild subtype of citrin deficiency characterized clinically by low birth weight, failure to thrive, transient intrahepatic cholestasis, multiple aminoacidemia, galactosemia, hypoproteinemia, hepatomegaly, decreased coagulation factors, hemolytic anemia, variable but mostly mild liver dysfunction, and hypoglycemia." "" + "citrin deficiency" "Citrin deficiency is a rare autosomal recessive urea cycle defect characterized clinically by recurring episodes of hyperammonemia and associated neuropsychiatric symptoms in the adult-onset form (citrullinemia type II), and by transient cholestasis and variable hepatic dysfunction in the neonatal form (neonatal intrahepatic cholestasis due to citrin deficiency)." "" + "autosomal recessive nonsyndromic hearing loss 27" "An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 2q23-q31." "" + "GNE myopathy" "Nonaka distal myopathy (described in Japan) and the quadriceps-sparing autosomal recessive inclusion body myopathy type 2 (IBM2; independently described in Iranian Jews and later in other Jewish and non-Jewish populations) constitute the same pathological entity, distinguished by the sparing of quadriceps." "" + "qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase -" "" + "spondylo-ocular syndrome" "Spondylo-ocular syndrome is a very rare association of spinal and ocular manifestations that is characterized by dense cataracts, and retinal detachment along with generalized osteoporosis and platyspondyly. Mild craniofacial dysphormism has been reported including short neck, large head and prominent eyebrows." "" + "generalized basaloid follicular hamartoma syndrome" "Generalized basaloid follicular hamartoma syndrome is a rare, genetic skin disease characterized by multiple milium-like, comedone-like lesions and skin-colored to hyperpigmented, 1 to 2 mm-sized papules, associated with hypotrichosis and palmar/plantar pits. Lesions are usually first noticed on cheeks or neck and gradually increase in size and number to involve the scalp, face, ears, shoulders, chest, axillas, and upper arms. In severe cases, lower back, lower arms, and back of the legs can be involved. Mild hypohidrosis has also been reported." "" + "baby rattle pelvis dysplasia" "" + "narcolepsy 2, susceptibility to" "" + "atopic dermatitis 5" "An atopic dermatitis associated with variation in the region 13q12-q14." "" + "atopic dermatitis 6" "An atopic dermatitis associated with variation in the region 5q31-q33." "" + "short stature, intellectual disability, callosal agenesis, Heminasal hypoplasia, microphthalmia, and atypical clefting" "" + "glycine encephalopathy" "Glycine encephalopathy (GE) is an inborn error of glycine metabolism characterized by accumulation of glycine in body fluids and tissues, including the brain, resulting in neurometabolic symptoms of variable severity." "" + "autosomal recessive early-onset Parkinson disease 6" "Any Parkinson disease in which the cause of the disease is a mutation in the PINK1 gene." "" + "3-hydroxy-3-methylglutaryl-CoA synthase deficiency" "3-hydroxy-3-methylglutaryl-CoA synthase deficiency (HMG-CoA synthase deficiency) is a rare autosomal recessively inherited disorder of ketone body metabolism, reported in less than 20 patients to date, characterized clinically by episodes of decompensation (often associated with gastroenteritis or fasting) that present with vomiting, lethargy, hepatomegaly, non ketotic hypoglycemia and, in rare cases, coma. Patients are mostly asymptomatic between acute epidodes. HMG-CoA synthase deficiency requires an early diagnosis in order to avoid hypoglycemic crises that can lead to permanent brain damage or death." "" + "East Texas bleeding disorder" "" + "holoprosencephaly 6" "A holoprosencephaly that has material basis in variation in the chromosome region 2q37.1-q37.3." "" + "arthropathy, erosive" "" + "liver fibrocystic disease and polydactyly" "" + "crumpled helices and small mouth" "" + "metaphyseal dysplasia, Braun-Tinschert type" "Metaphyseal dysplasia, Braun-Tinschert type is characterised by metapyhseal undermodeling with broadening of the long bones and femora with an 'Erlenmeyer flask'' appearance, expansion and bowing of the radii with severe varus deformity and flat exostoses of the long bones at the metadiaphyseal junctions." "" + "acropectoral syndrome" "Acro-pectoral syndrome is characterized by a combination of distal limb abnormalities (syndactyly of all fingers and toes, preaxial polydactyly in the feet and/or hands) and upper sternum malformations. It has been described in 22 patients from a six-generation Turkish family. It is transmitted as an autosomal dominant trait and the causative gene is located at 7q36." "" + "nephrolithiasis, uric acid, susceptibility to" "" + "obsolete spinocerebellar ataxia, autosomal recessive 1" "" "true" + "transaldolase deficiency" "Transaldolase deficiency is an inborn error of the pentose phosphate pathway that presents in the neonatal or antenatal period with hydrops fetalis, hepatosplenomegaly, hepatic dysfunction, thrombocytopenia, anemia, and renal and cardiac abnormalities." "" + "inborn disorder of pentose phosphate metabolism" "" + "autosomal dominant nonsyndromic hearing loss 18" "An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 3q22." "" + "acromegaloid features, overgrowth, cleft palate, and hernia" "" + "autism, susceptibility to, 5" "" + "propionic acidemia" "Propionic acidemia (PA) is an organic aciduria caused by the deficient activity of the propionyl Coenzyme A carboxylase and is characterized by life threatening episodes of metabolic decompensation, neurological dysfunction and that may be complicated by cardiomyopathy." "" + "MOGS-CDG" "MOGS-CDG is a form of congenital disorders of N-linked glycosylation characterized by generalized hypotonia, craniofacial dysmorphism (prominent occiput, short palpebral fissures, long eyelashes, broad nose, high arched palate , retrognathia), hypoplastic genitalia, seizures, feeding difficulties, hypoventilation, severe hypogammaglobulinemia with generalized edema, and increased resistance to particular viral infections (particularly to enveloped viruses). The disease is caused by loss-of-function mutations in the gene MOGS (2p13.1)." "" + "retinitis pigmentosa 28" "Any retinitis pigmentosa in which the cause of the disease is a mutation in the FAM161A gene." "" + "hemochromatosis type 4" "Hemochromatosis type 4 (also called ferroportin disease) is a form of rare hereditary hemochromatosis (HH), a group of diseases characterized by excessive tissue iron deposition of genetic origin." "" + "amyotrophic lateral sclerosis type 21" "Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the MATR3 gene." "" + "Charcot-Marie-Tooth disease axonal type 2C" "Autosomal dominant Charcot-Marie-Tooth disease type 2C (CMT2C) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by the association of vocal cord anomalies, impairment of respiratory muscles and sensorineural hearing loss with the distal hands and feet weakness. Onset is between infancy and the 6th decade." "" + "rippling muscle disease" "A benign myopathy with symptoms and signs of muscular hyperexcitability. The typical finding is electrically silent muscle contractions provoked by mechanical stimuli and stretch" "" + "goiter, multinodular 3" "" + "Diamond-Blackfan anemia 2" "" + "Sener syndrome" "" + "neuroferritinopathy" "Neuroferritinopathy is a late-onset type of neurodegeneration with brain iron accumulation (NBIA) characterized by progressive chorea or dystonia and subtle cognitive deficits." "" + "Diamond-Blackfan anemia 15 with mandibulofacial dysostosis" "Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS28 gene." "" + "genitopatellar syndrome" "Genitopatellar syndrome is a rare congenital patellar anomaly syndrome characterized by patellar aplasia or hypoplasia associated with microcephaly, characteristic coarse facial features (microcephaly, bitemporal narrowing, large, broad nose with high nasal bridge, prominent cheeks and micro/retrognathia or prognathism), arthrogryposis of the hips and knees, urogenital abnormalities and intellectual deficiency." "" + "baculum, congenital absence of" "" + "carnitine acetyltransferase deficiency" "A disease arising from a defect of carnitine acetyltransferase causing disruption of whole-body glucose homeostasis and muscle-specific loss of function results in reduced metabolic control, which resembles the insulin resistant state." "" + "obsolete permanent neonatal diabetes mellitus" "" "true" + "pars planitis" "An inflammatory disorder of the cilliary body in the uvea that affects healthy, younger individuals who are often asymptomatic. It has a long clinical course with relapses and remissions. Symptoms include mildly decreased vision and floaters. It may be associated with autoimmune disorders." "" + "obsolete aneurysmal bone cysts" "" "true" + "laryngeal abductor paralysis with cerebellar ataxia and motor neuropathy" "" + "Alzheimer disease 7" "An Alzheimer's disease that is characterized by an associated with variation in the region 10p13." "" + "radiation-induced meningioma" "" + "AVSD 1" "" + "atrioventricular septal defect, susceptibility to, 2" "Any atrioventricular septal defect in which the cause of the disease is a mutation in the CRELD1 gene." "" + "intellectual disability, short stature, facial anomalies, and joint dislocations" "" + "Phelan-McDermid syndrome" "Monosomy 22q13 syndrome (deletion 22q13.3 syndrome or Phelan-McDermid syndrome) is a chromosome microdeletion syndrome characterized by neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, and minor dysmorphic features." "" + "chromosome 22q deletion" "" + "thyroid cancer, nonmedullary, 3" "" + "intellectual disability, microcephaly, growth retardation, joint contractures, and facial dysmorphism" "" + "paget disease of bone 4" "" + "autosomal dominant nonsyndromic hearing loss 24" "An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 4q35-qter." "" + "autosomal recessive early-onset Parkinson disease 7" "Any Parkinson disease in which the cause of the disease is a mutation in the PARK7 gene." "" + "heterotaxy, visceral, 3, autosomal" "" + "autosomal dominant nonsyndromic hearing loss 22" "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the MYO6 gene." "" + "inflammatory bowel disease 5" "An inflammatory bowel disease that has material basis in variation in the chromosome region 5q31." "" + "pathological gambling" "A disorder characterized by a preoccupation with gambling and the excitement that gambling with increasing risk provides. Pathological gamblers are unable to cut back on their gambling, despite the fact that it may lead them to lie, steal, or lose a significant relationship, job, or educational opportunity." "" + "juvenile primary lateral sclerosis" "Juvenile primary lateral sclerosis (JPLS) is a very rare motor neuron disease characterized by progressive upper motor neuron dysfunction leading to loss of the ability to walk with wheelchair dependence, and subsequently, loss of motor speech production." "" + "lateral sclerosis" "Primary lateral sclerosis (PLS) is an idiopathic non-familial motor neuron disease characterized by slowly progressive upper motor neuron dysfunction leading to spasticity, mild weakness in voluntary muscle movement, hyperreflexia, and loss of motor speech production." "" + "immunodeficiency due to CD25 deficiency" "" + "obsolete Lennox-Gastaut syndrome" "" "true" + "obsolete maturity-onset diabetes of the young" "" "true" + "maturity-onset diabetes of the young type 4" "Monogenic diabetes caused by inactivating mutation(s) in the PDX1 gene, encoding pancreas/duodenum homeobox protein 1. Homozygous PDX1 mutations result in permanent neonatal diabetes." "" + "maturity-onset diabetes of the young type 6" "Monogenic diabetes caused by inactivating mutation(s) in the gene NEUROD1, encoding neurogenic differentiation 1. In addition to diabetes, this condition may be associated with neurogenic anomalies. Homozygous NEUROD1 mutations result in permanent neonatal diabetes." "" + "hypotonia-cystinuria syndrome" "A rare syndrome including neonatal and infantile hypotonia and failure to thrive, cystinuria type 1 and nephrolithiasis, growth retardation due to growth hormone deficiency, and minor facial dysmorphism." "" + "homozygous 2p21 microdeletion syndrome" "" + "Ehlers-Danlos syndrome due to tenascin-X deficiency" "" + "Huntington disease-like 2" "Huntington disease-like 2 (HDL2) is a severe neurodegenerative disorder considered part of the neuroacanthocytosis syndromes characterized by a triad of movement, psychiatric, and cognitive abnormalities." "" + "persistent polyclonal B-cell lymphocytosis" "Persistent polyclonal B-cell lymphocytosis (PPBL) is a rare, generally benign, lymphoproliferative hematological disease characterized by: chronic, stable, persistent, polyclonal lymphocytosis of memory B-cell origin, the presence of binucleated lymphocytes in the peripheral blood, and a polyclonal increase in serum immunoglobulin M (IgM). Patients are most frequently asymptomatic or may present with mild splenomegaly." "" + "autosomal dominant nonsyndromic hearing loss 30" "An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 15q25-q26." "" + "Charcot-Marie-Tooth disease dominant intermediate B" "Autosomal dominant intermediate Charcot-Marie-Tooth disease type B is a rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both demyelination and axonal degeneration in nerve biopsies. It presents with mild to moderately severe, slowly progressive usual clinical features of Charcot-Marie-Tooth disease (muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities). Other findings include asymptomatic neutropenia and early-onset cataracts." "" + "autosomal dominant intermediate Charcot-Marie-Tooth disease" "Autosomal dominant form of intermediate Charcot-Marie-Tooth disease." "" + "Charcot-Marie-Tooth Disease, axonal, type 2GG" "Autosomal dominant intermediate Charcot-Marie-Tooth disease type A is a rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both demyelination and axonal degeneration in nerve biopsies. It presents with usual clinical features of Charcot-Marie-Tooth disease (progressive muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities) in the first to second decade of life with steady progression until the fourth decade, severe progression and stabilization afterwards." "" + "PHACE syndrome" "PHACE is an acronym used to describe a syndrome characterised by the association of posterior fossa brain malformations, large facial haemangiomas, anatomical anomalies of the cerebral arteries, aortic coarctation and other cardiac anomalies, and eye abnormalities. Sternal anomalies are also sometimes present, and in these cases the syndrome is referred to as PHACES. Two additional manifestations have recently been added to the clinical spectrum of PHACE syndrome: stenosis of the vessels at the base of the skull and segmental longitudinal dilations of the internal carotid artery." "" + "vascular tumor with associated anomalies" "True" + "obsolete genetic vascular tumor" "An instance of rare vascular tumor that is caused by a modification of the individual's genome." "" "true" + "Megarbane syndrome" "" + "homozygous 11P15-p14 deletion syndrome" "" + "autosomal recessive congenital ichthyosis 3" "Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the ALOXE3 gene." "" + "episodic ataxia type 4" "Episodic ataxia type 4 (EA4) is a very rare form of Hereditary episodic ataxia characterized by late-onset episodic ataxia, recurrent attacks of vertigo, and diplopia." "" + "episodic ataxia type 3" "Episodic ataxia type 3 (EA3) is a very rare form of Hereditary episodic ataxia characterized by vestibular ataxia, vertigo, tinnitus, and interictal myokymia." "" + "oculocutaneous albinism type 4" "Oculocutaneous albinism type 4 (OCA4) is a type of OCA characterized by varying degrees of skin and hair hypopigmentation, numerous ocular changes and misrouting of the optic nerves at the chiasm." "" + "vitiligo-associated multiple autoimmune disease susceptibility 1" "" + "polysubstance abuse, susceptibility to" "" + "DNA ligase IV deficiency" "LIG4 syndrome is a hereditary disorder associated with impaired DNA double-strand break repair mechanisms and characterized by microcephaly, unusual facial features, growth and developmental delay, skin anomalies, and pancytopenia, which is associated with combined immunodeficiency (CID)." "" + "Charcot-Marie-Tooth disease axonal type 2F" "Autosomal dominant Charcot-Marie-Tooth disease type 2F (CMT2F) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2F is characterized by symmetric weakness primarily occurring in the lower limbs (distal muscles in a majority of cases) and reaching the arms only after 5 to 10 years, occasional and predominantly distal sensory loss and reduced tendon reflexes. CMT2F presents with gait anomaly between the 1st and 6th decade and early onset is generally associated to a more severe phenotype which may include foot drop." "" + "muscular dystrophy-dystroglycanopathy type B5" "A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscular dystrophy with variable penetrance of intellectual disability and structural brain abnormalities that has material basis in homozygous or compound heterozygous mutation in the FKRP gene on chromosome 19q13.3." "" + "dyslexia, susceptibility to, 6" "" + "Camurati-Engelmann disease, type 2" "Camurati-Engelmann Disease not associated with TGFB1. This is an n-of-1 use case where only one patient or family has been described with this disorder." "" + "amyotrophic lateral sclerosis type 3" "" + "basal ganglia calcification, idiopathic, 2" "True" + "glaucoma, normal tension, susceptibility to" "" + "spinocerebellar ataxia type 15/16" "Spinocerebellar ataxia type 15/16 (SCA15/16) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by cerebellar ataxia, tremor and cognitive impairment." "" + "melanoma, uveal, susceptibility to, 1" "" + "melanoma, uveal, susceptibility to, 2" "" + "Waardenburg syndrome type 2C" "A Waardenburg's syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and absence of lateral displacement of the inner canthus of each eye that has material basis in variation in the chromosome region 8p23." "" + "glycine N-methyltransferase deficiency" "Glycine N-methyltransferase deficiency (GNMT deficiency) is a very rare condition characterized by persistent and isolated excess levels of methionine in the blood (hypermethioninemia). The only clinical abnormalities are mild increase of the liver size (hepatomegaly) and chronic elevation of the transaminase levels in the blood without liver disease. Methionine may also be increased in urine. However, because elevated levels of methionine in the blood itself is a risk factor for development of neurological signs and symptoms, people with GNMT deficiency can have neurological problems when methionine levelsare greater than 800μmol/L. GNMT deficiency is caused by mutations in the GNMT gene. Inheritance is autosomal recessive. Treatment is not needed in most cases." "" + "inflammatory bowel disease 8" "An inflammatory bowel disease that has material basis in variation in the chromosome region 16p." "" + "inflammatory bowel disease 6" "An inflammatory bowel disease that has material basis in variation in the chromosome region 19p13." "" + "inflammatory bowel disease 4" "An inflammatory bowel disease that has material basis in variation in the chromosome region 14q11-q12." "" + "dilated cardiomyopathy 1L" "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the SGCD gene." "" + "spongiform encephalopathy with neuropsychiatric features" "" + "glaucoma 1, open angle, B" "" + "Kufor-Rakeb syndrome" "Kufor-Rakeb syndrome (KRS) is a rare genetic neurodegenerative disorder characterized by juvenile Parkinsonism, pyramidal degeneration (dystonia), supranuclear palsy, and cognitive impairment." "" + "familial dyskinesia and facial myokymia" "Familial dyskinesia and facial myokymia (FDFM) is a rare paroxysmal movement disorder, with childhood or adolescent onset, characterized by paroxysmal choreiform, dystonic, and myoclonic movements involving the limbs (mostly distal upper limbs), neck and/or face, which can progressively increase in both frequency and severity until they become nearly constant. Patients may also present with delayed motor milestones, perioral and periorbital dyskinesias, dysarthria, hypotonia, and weakness." "" + "autosomal dominant nonsyndromic hearing loss 36" "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the TMC1 gene." "" + "split hand-foot malformation 5" "Split-hand/foot malformation mapped to chromosome 2q31." "" + "specific language impairment 1" "" + "specific language impairment 2" "" + "van der Woude syndrome 2" "Any van der Woude syndrome in which the cause of the disease is a mutation in the GRHL3 gene." "" + "melanoma-pancreatic cancer syndrome" "" + "partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome" "" + "Seckel syndrome 2" "Any Seckel syndrome in which the cause of the disease is a mutation in the RBBP8 gene." "" + "acute hemorrhagic leukoencephalitis" "Acute hemorrhagic leukoencephalitis(AHL) is a veryrareform of acute disseminated encephalomyelitis that usuallyresults indeath. It is characterized by a brief but intense attack of inflammation in the brain and spinal cord that damages the myelin -- the protective covering of the nerve fibers. It may also cause bleeding in the brain, leading to damage of the white matter. Symptoms usually come on quickly, beginning with symptoms such as fever, neck stiffness, fatigue, headache, nausea vomiting,seizures, and coma.AHL has a very poor prognosis, with rapid deterioration and death usually occurring within days to one week after onset of symptoms because of severe inflammation in the brain. Although the exact cause is unclear,AHL usually followsaviral infection, or less often, vaccination for measles, mumps, or rubella. Some researchers think that an infection or vaccination can initiate an autoimmune process in the body thus leading to AHL." "" + "acute disseminated encephalomyelitis" "Acute disseminated encephalomyelitis (ADEM) is a demyelinating disorder of the central nervous system." "" + "hyperinsulinism-hyperammonemia syndrome" "Hyperinsulinism-hyperammonemia syndrome (HIHA) is a frequent form of diazoxide-sensitive diffuse hyperinsulinism, characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia), asymptomatic hyperammonemia and recurrent episodes of profound hypoglycemia induced by fasting and protein rich meals, requiring rapid and intensive treatment to prevent neurological sequelae. Epilepsy and cognitive deficit that are unrelated to hypoglycemia may also occur." "" + "primary ciliary dyskinesia 2" "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAAF3 gene." "" + "spermatogenic failure 3" "Any azoospermia in which the cause of the disease is a mutation in the SLC26A8 gene." "" + "non-syndromic male infertility due to sperm motility disorder" "Non-syndromic male infertility due to sperm motility disorder is a rare, genetic, non-syndromic male infertility disorder characterized by infertility due to sperm with defects in their cilia/flagella structure, leading to absent motility or reduced forward motility in fresh ejaculate. Reduced semen volume, oligospermia and an increased number of abnormally structured spermatozoa is often present." "" + "distal myopathy with anterior tibial onset" "" + "intellectual disability-obesity-prognathism-eye and skin anomalies syndrome" "" + "hemifacial myohyperplasia" "Hemifacial myohyperplasia (HMH) is a developmental disorder that frequently affects the right side of the face and is commonly seen in males. On the affected side of the face, there are usually enlarged tissues that lead to an abnormal jaw shape. Other features associated with HMH include enlargement of the brain, epilepsy, strabismus, genitourinary system disorders, intellectual disability, and dilation of the pupil on the affected side. Asymmetry of the face is more noticeable with age and remains until the end of adolescence when the asymmetry stabilizes. The cause of HMH is unknown; but theories suggest an imbalance in the endocrine system, neuronal abnormalities, chromosomal abnormalities, random events in twinning and fetal development, and vascular or lymphatic abnormalities." "" + "encephalopathy due to GLUT1 deficiency" "Glucose transporter type 1 (GLUT1) deficiency syndrome is characterized by an encephalopathy marked by childhood epilepsy that is refractory to treatment, deceleration of cranial growth leading to microcephaly, psychomotor retardation, spasticity, ataxia, dysarthria and other paroxysmal neurological phenomena often occurring before meals. Symptoms appear between the age of 1 and 4 months, following a normal birth and gestation." "" + "Crigler-Najjar syndrome type 2" "Type 2 Crigler-Najjar syndrome (CNS2) is a hereditary disorder of bilirubin metabolism characterized by unconjugated hyperbilirubinemia due to reduced and inducible activity of hepatic bilirubin glucuronosyltransferase (GT). CNS2 is a milder form of CNS than CNS1." "" + "peripheral arterial occlusive disease 1" "" + "anorexia nervosa, susceptibility to, 1" "" + "blepharospasm" "Involuntary twitching of the eyelid." "" + "stroke, susceptibility to, 1" "" + "fumaric aciduria" "Fumaric aciduria (FA), an autosomal recessive metabolic disorder, is most often characterized by early onset but non-specific clinical signs: hypotonia, severe psychomotor impairment, convulsions, respiratory distress, feeding difficulties and frequent cerebral malformations, along with a distinctive facies. Some patients present with only moderate intellectual impairment." "" + "familial digital arthropathy-brachydactyly" "Familial digital arthropathy-brachydactyly is characterised by the association of arthropathy of interphalangeal, metacarpophalangeal and metatarsophalangeal joints with brachydactyly of the middle and distal phalanges. It has been described in numerous members from five generations of one large family. Inheritance is autosomal dominant." "" + "parasomnia, sleep bruxism type" "" + "Cardioneuromyopathy with hyaline masses and nemaline rods" "" + "hyper-IgM syndrome type 3" "A form of Hyper IgM syndrome characterized by mutations of the CD40 gene. In this type, Immature B cells cannot receive signal 2 from helper T cells which is necessary to mature into mature B cells." "" + "Cree intellectual disability syndrome" "" + "parkinson disease 10" "" + "bilateral frontoparietal polymicrogyria" "Bilateral frontoparietal polymicrogyria (BFPP) is a sub-type of polymicrogyria (PMG), a cerebral cortical malformation characterized by excessive cortical folding and abnormal cortical layering, that involves the frontoparietal region of the brain and that presents with hypotonia, developmental delay, moderate to severe intellectual disability, pyramidal signs, epileptic seizures, non progressive cerebellar ataxia, dysconjugate gaze and/or strabismus." "" + "bilateral polymicrogyria" "Bilateral polymicrogyria is a rare cerebral malformation due to abnormal neuronal migration defined as a cerebral cortex with many excessively small convolutions. It presents with developmental delay, intellectual disability, seizures and various neurological impairments and may be isolated or comprise a clinical feature of many genetic syndromes. It may also be associated with perinatal cytomegalovirus infection." "" + "pancreatic cancer, susceptibility to, 1" "Any familial pancreatic carcinoma in which the cause of the disease is a mutation in the PALLD gene." "" + "Carney-Stratakis syndrome" "Carney-Stratakis syndrome is a recently described familial syndrome characterized by gastrointestinal stromal tumors (GIST) and paragangliomas, often at multiple sites." "" + "hirschsprung disease, susceptibility to, 6" "" + "hirschsprung disease, susceptibility to, 7" "" + "Alzheimer disease 4" "Alzheimer's disease with an early onset (starts before the age of 65). It is caused by mutations in the PSEN2 gene." "" + "primary intraosseous venous malformation" "Primary intraosseous venous malformation is a rare, genetic vascular anomaly characterized by severe blood vessel expansion (most frequently within the craniofacial bones) with painless bone enlargement (usually of mandibule, maxilla and/or orbital, nasal, and frontal bones), typically resulting in facial asymmetry and contour deformation. Midline abnormalities, such as diastasis recti, supraumbilical raphe, and hiatus hernia, are commonly associated. Additional features reported include gingival bleeding, ectopic tooth eruption, exophthalmos, loss of vision, nausea, and vomiting." "" + "infantile hemangioma of rare localization" "" + "duodenojejunal atresia with volvulus, absent dorsal mesentery, and absent superior mesenteric artery" "" + "symphalangism, distal, with microdontia, dental pulp stones, and narrowed zygomatic arch" "" + "dyslexia, susceptibility to, 5" "" + "Usher syndrome type 1G" "Any Usher syndrome in which the cause of the disease is a mutation in the USH1G gene." "" + "oculocutaneous albinism type 1B" "Oculocutaneous albinism type 1B (OCA1B) is a type of OCA1 characterized by skin and hair hypopigmentation, nystagmus, reduced iris and retinal pigment and misrouting of the optic nerves." "" + "obsolete insulinoma tumor suppressor gene locus" "" "true" + "COPD, severe early onset" "" + "nephronophthisis 4" "Any nephronophthisis in which the cause of the disease is a mutation in the NPHP4 gene." "" + "epilepsy, idiopathic generalized, susceptibility to, 2" "" + "familial hyperreninemic hypoaldosteronism type 2" "" + "familial hypoaldosteronism" "Aldosterone synthase deficiency is a rare inherited defect of the final step of aldosterone biosynthesis (conversion of deoxycorticosterone to aldosterone)." "" + "senior-loken syndrome 3" "" + "Senior-Loken syndrome 4" "Any Senior-Loken syndrome in which the cause of the disease is a mutation in the NPHP4 gene." "" + "brachydactyly type A1B" "" + "Hurler syndrome" "Hurler syndrome is the most severe form of mucopolysaccharidosis type 1 (MPS1), a rare lysosomal storage disease, characterized by skeletal abnormalities, cognitive impairment, heart disease, respiratory problems, enlarged liver and spleen, characteristic facies and reduced life expectancy." "" + "Hurler-Scheie syndrome" "Hurler-Scheie syndrome is the intermediate form of mucopolysaccharidosis type 1 (MPS1) between the two extremes Hurler syndrome and Scheie syndrome ; it is a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development." "" + "Scheie syndrome" "Scheie syndrome is the mildest form of mucopolysaccharidosis type 1 (MPS1), a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development." "" + "autosomal dominant nonsyndromic hearing loss 21" "An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 6p24.1-p22.3." "" + "autosomal recessive nonsyndromic hearing loss 22" "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the OTOA gene." "" + "T-box 24" "" + "autosomal dominant Parkinson disease 8" "Any Parkinson disease in which the cause of the disease is a mutation in the LRRK2 gene." "" + "multiple epiphyseal dysplasia type 5" "Multiple epiphyseal dysplasia type 5 is a multiple epiphyseal dysplasia characterized by an early-onset of pain and stiffness (involving knee and hip), progressive deformity of the extremities and precocious osteoarthritis associated with delayed and irregular ossification of epiphyses. Features specific to multiple epiphyseal dysplasia, type 5 include normal stature and lesser incidence of gait abnormalities. Radiographs reveal epiphyseal and metaphyseal irregularities. Multiple epiphyseal dysplasia type 5 follows an autosomal dominant mode of transmission." "" + "46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome" "" + "autosomal recessive nonsyndromic hearing loss 31" "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the WHRN gene." "" + "myasthenia gravis with thymus hyperplasia" "" + "obsolete familial aortic dissection" "" "true" + "aortic aneurysm, familial thoracic 2" "" + "distal spinal muscular atrophy type 3" "Distal spinal muscular atrophy type 3 is a rare neuromuscular disease characterized by progressive muscular weakness and atrophy predominantly affecting distal parts of limbs, later involvement of proximal and trunk muscles with marked hyperlordosis and late diaphragmatic dysfunction." "" + "B4GALT1-CDG" "B4GALT1-CDG is a congenital disorder of glycosylation characterised by macrocephaly due to Dandy-Walker malformation, hydrocephaly, hypotonia, myopathy and coagulation anomalies. To date, only one case has been reported. The syndrome is associated with mutations in the GALT1 gene (localised to region q13 of chromosome 9) leading to a deficiency in the Golgi apparatus enzyme beta-1,4-galactosyl transferase." "" + "anauxetic dysplasia" "A spondyloepimetaphyseal dysplasia that is characterized by the prenatal onset of extreme short stature, an adult height of less than 85 cm, hypodontia, and mild mental retardation." "" + "autosomal recessive nonsyndromic hearing loss 30" "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the MYO3A gene." "" + "nasopharyngeal carcinoma, susceptibility to, 1" "Any nasopharyngeal carcinoma in which the cause of the disease is a mutation in the TP53 gene." "" + "CINCA syndrome" "Chronic Infantile Neurological, Cutaneous, and Articular (CINCA) syndrome is characterised by skin rash, joint involvement, chronic meningitis with granulocytes and, in some cases, sensorineural hearing loss and ocular signs." "" + "Alzheimer disease 8" "An Alzheimer's disease that is characterized by an associated with variation in the region 20p12.2-q11.21." "" + "multiple epiphyseal dysplasia, Al-Gazali type" "Multiple epiphyseal dysplasia, Al-Gazali type is a skeletal dysplasia characterized by multiple epiphyseal dysplasia, macrocephaly and facial dysmorphism." "" + "laryngeal atresia, encephalocele, and limb deformities" "" + "specific language impairment 3" "" + "spinocerebellar ataxia type 17" "A rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by a variable clinical picture which can include dementia, psychiatric disorders, parkinsonism, dystonia, chorea, spasticity, and epilepsy." "" + "ALG12-CDG" "A form of congenital disorders of N-linked glycosylation characterized by facial dysmorphism (prominent forehead, large ears, thin upper lip), generalized hypotonia, feeding difficulties, moderate to severe developmental delay, progressive microcephaly, frequent upper respiratory tract infections due to impaired immunity with decreased immunoglobulin levels, and decreased coagulation factors. Additional features include hypogonadism with or without hypospadias in males, skeletal anomalies, seizures and cardiac anomalies in some cases. The disease is caused by loss of function mutations of the gene ALG12 (22q13.33)." "" + "Moyamoya disease 2" "Any Moyamoya disease in which the cause of the disease is a mutation in the RNF213 gene." "" + "hereditary spastic paraplegia 19" "Autosomal dominant spastic paraplegia type 19 is a pure form of hereditary spastic paraplegia characterized by a slowly progressive and relatively benign spastic paraplegia presenting in adulthood with spastic gait, lower limb hyperreflexia, extensor plantar responses, bladder dysfunction (urinary urgency and/or incontinence), and mild sensory and motor peripheral neuropathy." "" + "autosomal recessive limb-girdle muscular dystrophy type 2I" "Autosomal recessive limb-girdle muscular dystrophy type 2I (LGMD2I) is a subtype of autosomal recessive limb-girdle muscular dystrophy that presents a highly variable age of onset and phenotypic spectrum typically characterized by slowly progressive proximal weakness of the pelvic and shoulder girdle musculature (predominantly affecting the lower limbs), frequently associated with waddling gait, scapular winging, calf and tongue hypertrophy, exercise-induced myalgia, and myoglobinuria and/or elevated creatine kinase serum levels. Abdominal muscle weakness, cardiomyopathy, respiratory muscle involvement and various brain abnormalities have also been reported." "" + "cloverleaf skull-multiple congenital anomalies syndrome" "This newly described syndrome is characterized by cloverleaf skull, limb anomalies, facial dysmorphism and multiple congenital anomalies." "" + "familial meningioma" "A meningioma that is transmitted from the parents to an offspring." "" + "Amish lethal microcephaly" "Amish lethal microcephaly is a very rare syndrome characterized by extreme microcephaly and early death, within the first year." "" + "obsolete deafness, autosomal recessive" "" "true" + "thyroid dyshormonogenesis 6" "Any familial thyroid dyshormonogenesis in which the cause of the disease is a mutation in the DUOX2 gene." "" + "celiac disease, susceptibility to, 5" "" + "obsolete Dravet syndrome" "Dravet syndrome (DS) is a genetic epilepsy of childhood characterized by a variety of drug-resistant seizures often induced by fever, presenting in previously healthy children, and which frequently leads to cognitive and motor impairment." "" "true" + "anonychia-microcephaly syndrome" "Anonychia-microcephaly syndrome is a multiple congenital anomaly disorder characterized by anonychia congenita totalis and microcephaly, and normal intelligence along with some minor anomalies including single transverse palmar creases, fifth-finger clinodactyly and widely-spaced teeth." "" + "epilepsy, partial, with pericentral spikes" "" + "infantile-onset ascending hereditary spastic paralysis" "Infantile-onset ascending hereditary spastic paralysis (IAHSP) is a very rare motor neuron disease characterized by severe spasticity of the lower limbs in early life, progression of spasticity to the upper limbs in late childhood, and dysarthria." "" + "hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration" "" + "autosomal recessive nonsyndromic hearing loss 33" "An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 10p11.23-q21.1." "" + "glioma susceptibility 4" "" + "glioma susceptibility" "An inherited susceptibility or predisposition to developing glioma." "" + "spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1" "Spinocerebellar ataxia with axonal neuropathy type 1 is a rare, genetic neurological disorder characterized by a late childhood onset of slowly progressive cerebellar ataxia. Initial manifestations include weakness and atrophy of distal limb muscles, areflexia and loss of pain, vibration and touch sensations in upper and lower extremities. Gaze nystagmus, cerebellar dysarthria, peripheral neuropathy, stepagge gait and pes cavus develop as disease progresses. Cerebellar atrophy (especially of the vermis) is present in all affected individuals. Additional reported manifestations include seizures, mild brain atrophy, mild hypercholesterolemia and borderline hypoalbuminemia." "" + "spinocerebellar ataxia, autosomal recessive, with axonal neuropathy" "" + "hypercalciuria, absorptive, 1" "" + "hereditary spastic paraplegia 7" "Autosomal recessive spastic paraplegia type 7 is a form of hereditary spastic paraplegia characterized by an onset usually in adulthood (but ranging from 10-72 years) of progressive bilateral lower limb weakness and spasticity, sphincter dysfunction, decreased vibratory sense at the ankles and with additional manifestations including optical neuropathy, nystagmus, strabismus, decreased hearing, scoliosis, pes cavus, motor and sensory neuropathy, amyotrophy, blepharoptosis and ophthalmoplegia." "" + "autoimmune lymphoproliferative syndrome type 2B" "Autoimmune lymphoproliferative syndrome (ALPS) with recurrent viral infections is a rare genetic disorder characterized by lymphadenopathy and/or splenomegaly and recurrent infections due to herpes viruses." "" + "asthma-related traits, susceptibility to, 1" "Any inherited susceptibility to asthma in which the cause of the disease is a mutation in the PTGDR gene." "" + "osteofibrous dysplasia" "A benign, usually self-limited fibro-osseous lesion of the bone that affects infants and children. It usually arises from the cortical bone of the anterior mid-shaft of the tibia. Patients usually present with swelling or painless bowing of the tibia. Progression to adamantinoma has been reported in some cases." "" + "systemic lupus erythematosus with hemolytic anemia, susceptibility to, 1" "" + "cataract 27" "A cataract that has material basis in mutation in the region 2p12." "" + "obsolete mammographic density" "" "true" + "horizontal gaze palsy with progressive scoliosis" "Horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare congenital autosomal recessive disease, presenting in children and adolescents, and characterized by progressive scoliosis along with the absence of conjugate horizontal eye movements and associated with failure of the somatosensory and corticospinal neuronal tracts to decussate in the medulla." "" + "autosomal recessive cerebellar ataxia-saccadic intrusion syndrome" "Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome is a rare hereditary ataxia characterized by a progressive cerebellar ataxia associated with disruption of visual fixation by saccadic intrusions (overshooting horizontal saccades with macrosaccadic oscillations and increased velocity of larger saccades). It presents with progressive gait, trunk and limb ataxia with pyramidal tract signs (increased tendon reflexes and Babinski sign), myoclonic jerks, fasciculations, cerebellar dysarthria, sensorimotor axonal neuropathy with impaired joint position, vibration, temperature, pain sensations, pes cavus, and saccadic intrusions with characteristic overshooting horizontal saccades, macrosaccadic oscillations, and increased velocity of larger saccades, without other eye movement disturbances." "" + "Duane-radial ray syndrome" "A syndrome of multiple congenital anomalies and is characterized by ocular manifestations (uni- or bilateral Duane anomaly (95% of cases), congenital optic nerve hypoplasia or optic disc coloboma), bilateral deafness and radial ray malformation that can include thenar hypoplasia and/or hypoplasia or aplasia of the thumbs; hypoplasia or aplasia of the radii; shortening and radial deviation of the forearms; triphalangeal thumbs; and duplication of the thumb (preaxial polydactyly).The phenotype overlaps with other SALL4>/i> related disorders including acro-renal-ocular syndrome and Holt-Oram syndrome (see these terms). Transmission is autosomal dominant." "" + "polydactyly, postaxial, type A3" "" + "Smith-McCort dysplasia 1" "Any Smith-McCort dysplasia in which the cause of the disease is a mutation in the DYM gene." "" + "Smith-McCort dysplasia" "Smith-McCort dysplasia (SMC) is a rare spondylo-epi-metaphyseal dysplasia characterized by the clinical manifestations of coarse facies, short neck, short trunk dwarfism with barrel-shaped chest and rhizomelic limb shortening, as well as specific radiological features (i.e. generalized platyspondyly with double-humped vertebral end plates and iliac crests with a lace-like appearance) and normal intelligence. The clinical and skeletal features are similar to those seen in the allelic disorder Dyggve-Melchior-Clausen syndrome (DMC), but can be distinguished from this syndrome by the absence of intellectual deficiency and microcephaly in SMC." "" + "hypertension, essential, susceptibility to, 3" "" + "lathosterolosis" "Lathosterolosis is an extremely rare inborn error of sterol biosynthesis characterized by facial dysmorphism, congenital anomalies (including limb and kidney anomalies), failure to thrive, developmental delay and liver disease." "" + "coronary heart disease, susceptibility to, 1" "Any coronary artery disease in which the cause of the disease is a mutation in the CX3CR1 gene." "" + "isolated focal cortical dysplasia type II" "" + "isolated focal cortical dysplasia" "Isolated focal cortical dysplasia is a rare, genetic, non-syndromic cerebral malformation due to abnormal neuronal migration disorder characterized by variable-sized, focalized malformations located in any part(s) of the cerebral cortex, which manifests with drug-resistant epilepsy (usually leading to intellectual disability) and behavioral disturbances. Abnormal MRI findings (e.g. abnormal white and/or grey matter signal, blurred gray-white matter junction, localized volume loss, cortical thickening, abnormal gyral pattern, abnormal hippocampus) and variable histopathologic patterns are associated." "" + "spinocerebellar ataxia type 19/22" "Spinocerebellar ataxia type 19 (SCA19) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by mild cerebellar ataxia, cognitive impairment, low scores on the Wisconsin Card Sorting Test measuring executive function, myoclonus, and postural tremor." "" + "scoliosis, isolated, susceptibility to, 2" "" + "Meckel syndrome, type 3" "Any Meckel syndrome in which the cause of the disease is a mutation in the TMEM67 gene." "" + "Bartter disease type 3" "Classic Bartter syndrome is a type of Bartter syndrome, characterized by a milder clinical picture than the antenatal/infantile subtype, and presenting with failure to thrive, hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II." "" + "developmental malformations-deafness-dystonia syndrome" "Developmental malformations-deafness-dystonia syndrome is characterised by the association of midline malformations, sensory hearing loss, and a delayed-onset generalised dystonia syndrome." "" + "autism, susceptibility to, 8" "" + "streptococcus, group A, severity of infection by" "" + "glucocorticoid deficiency 2" "Any familial glucocorticoid deficiency in which the cause of the disease is a mutation in the MRAP gene." "" + "familial patent arterial duct" "Familial patent arterial duct is a rare, genetic, non-syndromic, congenital anomaly of the great arteries characterized by the presence of an isolated patent arterial duct (PDA) (i.e. failure of closure of ductus arteriosis after birth) in several members of the same family. Clinical presentation is similar to the sporadic form and may range from neonatal-onset tachypnea, diaphoresis and failure to thrive to adult-onset atrial arrhythmia, signs and symptoms of heart failure and cyanosis limited to the lower extremities." "" + "intellectual disability, autosomal recessive 2" "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the CRBN gene." "" + "coenzyme Q10 deficiency, primary, 1" "Any coenzyme Q10 deficiency in which the cause of the disease is a mutation in the COQ2 gene." "" + "Leigh syndrome with nephrotic syndrome" "" + "lissencephaly due to LIS1 mutation" "Lissencephaly due to LIS1 mutation is a cerebral malformation with epilepsy characterized predominantly by posterior isolated lissencephaly with developmental delay, intellectual disability and epilepsy that usually evolves from West syndrome to Lennox-Gastaut syndrome. Additional features include muscular hypotonia, acquired microcephaly, failure to thrive and poor control of airways leading to aspiration pneumonia." "" + "arrhythmogenic right ventricular dysplasia 8" "Any arrhythmogenic right ventricular cardiomyopathy in which the cause of the disease is a mutation in the DSP gene." "" + "autosomal dominant nonsyndromic hearing loss 44" "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the CCDC50 gene." "" + "spinocerebellar ataxia type 21" "Spinocerebellar ataxia type 21 (SCA21) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by slowly progressive cerebellar ataxia, mild cognitive impairment, postural and/or resting tremor, bradykinesia, and rigidity." "" + "spinocerebellar ataxia type 18" "Spinocerebellar ataxia type 18 (SCA18) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by sensory neuropathy and cerebellar ataxia." "" + "sensory ataxic neuropathy, dysarthria, and ophthalmoparesis" "A syndrome is characterised by adult-onset severe sensory ataxic neuropathy, dysarthria and chronic progressive external ophthalmoplegia." "" + "ataxia neuropathy spectrum" "" + "thyroid Hurthle cell carcinoma" "" + "vitamin K-dependent clotting factors, combined deficiency of, type 2" "Any congenital vitamin K-dependent coagulation factors combined deficiency in which the cause of the disease is a mutation in the VKORC1 gene." "" + "Bothnia retinal dystrophy" "A rare form of retinal dystrophy, seen mostly in Northern Sweden, presenting in early childhood with night blindness and progressive maculopathy with a decrease in visual acuity, eventually leading to blindness by adulthood. Retinal degeneration, without obvious bone spicule formation, accompanied by affected visual fields and the typical presence of retinitis punctata albescens in the posterior pole are also noted." "" + "Newfoundland cone-rod dystrophy" "Any cone-rod dystrophy in which the cause of the disease is a mutation in the RLBP1 gene." "" + "dilated cardiomyopathy 1M" "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the CSRP3 gene." "" + "biotin-responsive basal ganglia disease" "" + "Grn-related frontotemporal lobar degeneration with Tdp43 inclusions" "A frontotemporal dementia characterized by variable phenotypic expression typically including social, behavioral, or language deterioration, rather than memory or motor deficits and the presence of TARDBP-positive inclusions that has material basis in mutation in the GRN gene on chromosome 17q21.31." "" + "primary progressive aphasia" "Primary progressive aphasia (PPA) is a neurodegenerative disorder, characterized by a primary dissolution of language, with relative sparing of other mental faculties for at least the first 2 years of illness. PPA is recognized as the language variant in the frontotemporal dementia (FTD) spectrum of disorders. PPA can be classified into 3 subtypes based on specific speech and language features: semantic dementia (SD), progressive non-fluent aphasia (PNFA) and logopenic progressive aphasia (lv-PPA)." "" + "hypertrophic cardiomyopathy 25" "Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the TCAP gene." "" + "myoclonic dystonia 15" "A myoclonic dystonia characterized by autosomal dominant inheritance that has material basis in variation in the chromosome region 18p11." "" + "migraine with or without aura, susceptibility to, 3" "" + "bulimia nervosa, susceptibility to, 1" "" + "migraine without aura, susceptibility to, 4" "A migraine disorder characterized by episodes that occur in the absence of preceding focal neurological symptoms." "" + "migraine without aura" "A migraine disorder characterized by episodes that occur in the absence of preceding focal neurological symptoms." "" + "headache associated with sexual activity" "" + "psoriatic arthritis" "Joint inflammation associated with psoriasis." "" + "migraine with or without aura, susceptibility to, 5" "" + "migraine with or without aura, susceptibility to, 6" "" + "nonsyndromic congenital nail disorder 8" "Any inherited isolated nail anomaly in which the cause of the disease is a mutation in the COL7A1 gene." "" + "Camptosynpolydactyly, complex" "" + "secretory diarrhea, myopathy, and deafness" "" + "granular corneal dystrophy type II" "Type II granular corneal dystrophy (GCDII) is a rare form of stromal corneal dystrophy characterized by irregular-shaped well-demarcated granular deposits in the superficial central corneal stroma, and progressive visual impairment." "" + "spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome" "" + "atrial fibrillation, familial, 3" "Any familial atrial fibrillation in which the cause of the disease is a mutation in the KCNQ1 gene." "" + "familial atrial fibrillation" "An autosomal dominant heart condition that causes disruptions in the heart's normal rhythm. This condition is characterized by uncoordinated electrical activity in the heart's upper chambers (the atria), which causes the heartbeat to become fast and irregular." "" + "spastic paraplegia, ataxia, and intellectual disability" "" + "obsolete distal myopathy with early respiratory muscle involvement" "" "true" + "leprosy, susceptibility to, 2" "" + "breath-holding Spells" "" + "hereditary spastic paraplegia 24" "A hereditary spastic paraplegia that has material basis in variation in the chromosome region 13q14." "" + "prostate cancer aggressiveness quantitative trait locus on chromosome 19" "" + "immunodeficiency, common variable, 1" "" + "obsolete COL4A1-related familial vascular leukoencephalopathy" "A brain disease characterized by autosomal dominant inheritance of fragile small blood vessels in the brain, leukoencephalopathy, increased risk of stroke, seizure and migraine and in some cases Axenfeld-Riegar anomaly that has material basis in heterozygous mutation in the COL4A1 gene on chromosome 13q34." "" "true" + "pontocerebellar hypoplasia type 1A" "Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the VRK1 gene." "" + "pontocerebellar hypoplasia type 1" "Pontocerebellar hypoplasia type 1 (PCH1), also known as Norman's disease, is a clinically and genetically heterogeneous group of autosomal recessive disorders with a prenatal onset characterized by diffuse muscular atrophy secondary to pontocerebellar hypoplasia and spinal cord anterior horn cell degeneration resulting in early death." "" + "microphthalmia with cyst, bilateral facial clefts, and limb anomalies" "" + "lethal congenital contracture syndrome 2" "Lethal congenital contracture syndrome type 2 is a rare arthrogryposis syndrome characterized by multiple congenital contactures (typically extended elbows and flexed knees), micrognathia, anterior horn cell degeneration, skeletal muscle atrophy (mainly in the lower limbs), presence of a markedly distended urinary bladder and absence of hydrops, pterygia and bone fractures. Other craniofacial (e.g. cleft palate, facial palsy) and ocular (e.g. anisocoria, retinal detachment) anomalies may be additionally observed. The disease is usually neonatally lethal however, survival into adolescence has been reported." "" + "epidermolysis bullosa simplex superficialis" "Epidermolysis bullosa simplex superficialis (EBSS) is a suprabasal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized or acral superficial erosions in the absence of blisters." "" + "annular epidermolytic ichthyosis" "Annular epidermolytic ichthyosis (AEI) is a rare clinical variant of epidermolytic ichthyosis (EI) characterized by the presence of a blistering phenotype at birth and the development from early infancy of annular polycyclic erythematous scales on the trunk and extremities." "" + "autosomal dominant epidermolytic ichthyosis" "" + "Niemann-Pick disease type B" "Niemann-Pick disease type B is a mild subtype of Niemann-Pick disease, an autosomal recessive lysosomal disease, and is characterized clinically by onset in childhood with hepatosplenomegaly, growth retardation, and lung disorders such as infections and dyspnea" "" + "Griscelli syndrome type 2" "Griscelli syndrome type 2 (GS2) is a rare, inherited condition that affects the skin, hair, and immune system. People with GS2 have unusually light skin and silver-colored hair. They are also prone to recurrent infections and develop an immune condition called hemophagocytic lymphohistiocytosis (HLH). HLH can damage organs and tissues throughout the body, causing life-threatening complications. GS2 is caused by changes (mutations) in the RAB27A gene and is inherited in an autosomal recessive manner. The only current treatment that can extend survival is stem cell transplantation (a bone marrow transplant). Untreated, most children with GS2 do not survive past early childhood." "" + "Niemann-Pick disease, type C2" "Niemann-Pick disease type C2 is a rare metabolic condition that affects many different parts of the body. Although signs and symptoms can develop at any age (infancy through adulthood), most affected people develop features of the condition during childhood. Neimann-Pick disease type C2 may be characterized by ataxia (difficulty coordinating movements), vertical supranuclear gaze palsy (inability to move the eyes vertically), poor muscle tone, hepatosplenomegaly (enlarged liver and spleen), interstitial lung disease, intellectual decline, seizures, speech problems, and difficulty swallowing. Niemann-Pick disease type C2 is caused by changes (mutations) in the NPC2 gene and is inherited in an autosomal recessive manner. There is, unfortunately, no cure for Niemann-Pick disease type C2. Treatment is based on the signs and symptoms present in each person." "" + "neonatal ichthyosis-sclerosing cholangitis syndrome" "Neonatal ichthyosis-sclerosing cholangitis (NISCH syndrome) is a very rare complex ichthyosis syndrome characterized by scalp hypotrichosis, scarring alopecia, ichthyosis and sclerosing cholangitis." "" + "sclerosing cholangitis" "A chronic, autoimmune inflammatory liver disorder characterized by narrowing and scarring of the lumen of the bile ducts. It is often seen in patients with ulcerative colitis. Signs and symptoms include jaundice, fatigue, and malabsorption. It may lead to cirrhosis and liver failure." "" + "epilepsy, idiopathic generalized, susceptibility to, 11" "An inherited susceptibility or predisposition to developing epilepsy, idiopathic generalized, in which the cause of the disease is a mutation in the CLCN2 gene." "" + "juvenile absence epilepsy" "Juvenile absence epilepsy (JAE) is a genetic epilepsy with onset occurring around puberty. JAE is characterized by sporadic occurrence of absence seizures, frequently associated with a long-life prevalence of generalized tonic-clonic seizures (GTCS) and sporadic myoclonic jerks." "" + "autosomal dominant osteopetrosis 1" "Autosomal dominant osteopetrosis type I (ADO I) is a sclerosing bone disorder characterized by skeletal densification that predominantly involves the cranial vault." "" + "Worth syndrome" "A hyperostosis that has material basis in a mutation in the LRP5 gene which results in increased bone density and bony structures located in palate." "" + "neuronopathy, distal hereditary motor, type 7B" "Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the DCTN1 gene." "" + "candidiasis, familial, 3" "" + "keratosis palmoplantaris striata 3" "Any striate palmoplantar keratoderma in which the cause of the disease is a mutation in the KRT1 gene." "" + "skin fragility-woolly hair-palmoplantar keratoderma syndrome" "" + "Curly hair - acral keratoderma - caries syndrome" "Curly hair-acral keratoderma-caries syndrome is an extremely rare ectodermal dysplasia syndrome characterized by premature loss of curly, brittle, dry hair, premature loss of teeth due to caries, nail dystrophy with thickening of the finger- and toe-nails, acral keratoderma and hypohidrosis. Additionally, sparse eyebrows and eyelashes, receding frontal hairline and flattened malar region are associated. The severity of features appears to increase with age." "" + "hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome" "Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome is an extremely rare ectodermal dysplasia syndrome characterized by hypotrichosis universalis with mild to severe scarring alopecia, acro-osteolysis, onychogryphosis, thin and tapered fingertips, periodontitis and caries leading to premature teeth loss, linear or reticular palmoplantar keratoderma and erythematous, scaling, psoriasis-like skin lesions on arms and legs. Lingua plicata and ventricular tachycardia have also been observed." "" + "tubulointerstitial nephritis and uveitis syndrome" "An autoimmune disorder comprising tubulointerstitial nephritis and uveitis." "" + "torsion dystonia 13" "DYT13 type primary dystonia is characterized by focal or segmental dystonia with cranial, cervical, or upper limb involvement." "" + "cataract, congenital, with mental impairment and dentate gyrus atrophy" "" + "immunodeficiency 67" "An immunodeficiency associated with increased susceptibility to invasive infections caused by pyogenic bacteria." "" + "Charcot-Marie-Tooth disease type 2I" "Autosomal dominant Charcot-Marie-Tooth disease type 2I (CMT2I) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by a late onset with severe sensory loss (paresthesia and hypoesthesia) associated with distal weakness, mainly of the legs, and absent or reduced deep tendon reflexes." "" + "Charcot-Marie-Tooth disease type 1D" "A form of CMT1, caused by mutations in the EGR2 gene (10q21.1), with a variable severity and age of onset (from infancy to adulthood), that usually presents with gait abnormalities, progressive wasting and weakness of distal limb muscles, with possible later involvement of proximal muscles, foot deformity and severe reduction in nerve conduction velocity. Additional features may include scoliosis, cranial nerve deficits such as diplopia, and bilateral vocal cord paresis." "" + "febrile seizures, familial, 8" "A childhood absence epilepsy that is characterized by mutations in the GABRG2 gene, which cause a spectrum of seizure disorders, ranging from early-onset isolated febrile seizures (FS) to childhood absence epilepsy (CAE) to generalized epilepsy with febrile seizures plus, type 3 (GEFS+3), which tends to represent a more severe phenotype." "" + "epilepsy, idiopathic generalized, susceptibility to, 9" "Any generalised epilepsy in which the cause of the disease is a mutation in the CACNB4 gene." "" + "autosomal dominant nonsyndromic hearing loss 52" "An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 5q31.1-q32." "" + "Charcot-Marie-Tooth disease type 2E" "Autosomal dominant Charcot-Marie-Tooth disease type 2E (CMT2E) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2E onset is in the first to 6th decade with a gait anomaly and a leg weakness that reaches the arms secondarily. Tendon reflexes are reduced or absent and, after years, all patients have a pes cavus. Other signs may be present, including hearing loss and postural tremor." "" + "idiopathic hypereosinophilic syndrome" "" + "Parkinson disease 11, autosomal dominant, susceptibility to" "Any hereditary late onset Parkinson disease in which the cause of the disease is a mutation in the GIGYF2 gene." "" + "leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome" "Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome is characterised by ataxia, delayed dentition, hypomyelination and cerebral atrophy. So far, eight cases have been described." "" + "hypomyelinating leukodystrophy with or without oligondontia and/or hypogonadism" "True" + "Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive" "" + "Noonan syndrome-like disorder with loose anagen hair" "Noonan-like syndrome with loose anagen hair (NS/LAH) is a Noonan-related syndrome, characterized by facial anomalies suggestive of Noonan syndrome ; a distinctive hair anomaly described as loose anagen hair syndrome ; frequent congenital heart defects; distinctive skin features with darkly pigmented skin, keratosis pilaris, eczema or occasional neonatal ichtyosis ; and short stature, often associated with a GH deficiency and psychomotor delays." "" + "porokeratosis 4, disseminated superficial actinic type" "" + "Charcot-Marie-Tooth disease axonal type 2H" "Charcot-Marie-Tooth disease, type 2H (CMT2H, also referred to as CMT4C2) is an axonal CMT peripheral sensorimotor polyneuropathy associated with pyramidal involvement." "" + "Charcot-Marie-Tooth disease type 1F" "A form of CMT1, with a variable clinical presentation that can range from severe impairment with onset in childhood to mild impairment appearing during adulthood. CMT1F is characterized by a progressive peripheral motor and sensory neuropathy with distal paresis in the lower limbs that varies from mild weakness to complete paralysis of the distal muscle groups, absent tendon reflexes and reduced nerve conduction. CMT1F represents the ''demyelinating'' form of CMT2E and is caused by mutations in the NEFL gene (8p21.2).." "" + "Charcot-Marie-Tooth disease type 2J" "Autosomal dominant Charcot-Marie-Tooth disease type 2J (CMT2J) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by a relatively late onset, pupillary abnormalities and deafness, in most patients, associated with distal weakness and muscle atrophy." "" + "seizures, benign familial infantile, 3" "Any benign familial infantile epilepsy in which the cause of the disease is a mutation in the SCN2A gene." "" + "obsolete familial hypercholanemia" "" "true" + "congenital bile acid synthesis defect 1" "Congenital bile acid synthesis defect type 1 (BAS defect type 1) is the most common anomaly of bile acid synthesis characterized by variable manifestations of progressive cholestatic liver disease, and fat malabsorption." "" + "acrocapitofemoral dysplasia" "Acrocapitofemoral dysplasia is a recently delineated skeletal dysplasia, characterized clinically by short stature of variable degrees with short limbs, brachydactyly and narrow thorax." "" + "juvenile myelomonocytic leukemia" "A myelodysplastic/myeloproliferative neoplasm of childhood that is characterized by proliferation principally of the granulocytic and monocytic lineages. Myelomonocytic proliferation is seen in the bone marrow and the blood. The leukemic cells may infiltrate any tissue, however liver, spleen, lymph nodes, skin, and respiratory tract are the most common sites of involvement. (WHO, 2001)" "" + "chronic myelomonocytic leukemia" "A myelodysplastic/myeloproliferative neoplasm which is characterized by persistent monocytosis, absence of a Philadelphia chromosome and BCR/ABL fusion gene, fewer than 20 percent blasts in the bone marrow and blood, myelodysplasia, and absence of PDGFRA or PDGFRB rearrangement." "" + "obsolete autosomal dominant limb-girdle muscular dystrophy type 1C" "" "true" + "craniolenticulosutural dysplasia" "Craniolenticulosutural dysplasia (CLSD), also known as Boyadjiev-Jabs syndrome, is characterized by the specific association of large and late-closing fontanels, hypertelorism, early-onset cataract and mild generalized skeletal dysplasia." "" + "autosomal recessive nonsyndromic hearing loss 37" "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the MYO6 gene." "" + "Alzheimer disease 3" "Alzheimer's disease with an early onset (starts before the age of 65). It is caused by mutations in the PSEN1 gene." "" + "hypotrichosis-lymphedema-telangiectasia syndrome" "" + "mitral valve prolapse, myxomatous 2" "" + "Charcot-Marie-Tooth disease axonal type 2K" "Autosomal recessive Charcot-Marie-Tooth disease with hoarseness (ARCMT2K or CMT4C4) is a severe early-onset form of axonal CMT peripheral sensorimotor polyneuropathy." "" + "focal segmental glomerulosclerosis 3, susceptibility to" "Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the CD2AP gene." "" + "anxiety" "" + "autoimmune disease, susceptibility to, 1" "Any autoimmune disease in which the cause of the disease is a mutation in the FOXD3 gene." "" + "autosomal dominant nonsyndromic hearing loss 48" "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the MYO1A gene." "" + "aural atresia, congenital" "" + "nonimmune chronic idiopathic neutropenia of adults" "" + "osteoarthritis susceptibility 3" "Any osteoarthritis in which the cause of the disease is a mutation in the ASPN gene." "" + "panic disorder 2" "" + "congenital merosin-deficient muscular dystrophy 1A" "Congenital muscular dystrophy type 1A (MCD1A) belongs to a group of neuromuscular disorders with onset at birth or infancy characterized by hypotonia, muscle weakness and muscle wasting." "" + "LAMA2-related muscular dystrophy" "Any muscular dystrophy in which the cause of the disease is a mutation in the LAMA2 gene." "" + "psoriasis 9, susceptibility to" "" + "tufted angioma" "Tufted angioma is a very rare, benign, cutaneous, slow-growing, vascular tumor mostly developing in infancy or early childhood." "" + "caudal duplication" "Caudal duplication (CD) is a rare developmental anomaly in which structures derived from the embryonic cloaca and notochord are duplicated to varying extents." "" + "chromosome 1p36 deletion syndrome" "A chromosomal anomaly characterized by distinctive facial dysmorphic features, hypotonia, developmental delay, intellectual disability, seizures, heart defects, hearing impairment and prenatal onset growth deficiency." "" + "partial deletion of the short arm of chromosome 1" "Chromosome 1p deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the short arm (p) of chromosome 1. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 1p deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person." "" + "epilepsy, familial adult myoclonic, 2" "Any epilepsy, familial adult myoclonic in which the cause of the disease is a mutation in the ADRA2B gene." "" + "ovarian cancer, susceptibility to, 1" "" + "hypotrichosis 6" "Any hypotrichosis in which the cause of the disease is a mutation in the DSG4 gene." "" + "ALG2-CDG" "A form of congenital disorders of N-linked glycosylation characterized by iris coloboma, cataract, infantile spasms, developmental delay and abnormal coagulation factors. The disease is caused by loss-of-function mutations in the gene ALG2 (9q31.1). Transmission is autosomal recessive." "" + "dermatofibrosarcoma protuberans" "Dermatofibrosarcoma protuberans (DFSP) is a rare infiltrating soft tissue sarcoma, generally of low grade malignancy, arising from the dermis of the skin and characteristically associated with a specific chromosomal translocation t(17;22)." "" + "retinitis pigmentosa 30" "Any retinitis pigmentosa in which the cause of the disease is a mutation in the FSCN2 gene." "" + "microphthalmia with brain and digit anomalies" "Microphthalmia with brain and digit anomalies is characterised by anophthalmia or microphthalmia, retinal dystrophy, and/or myopia, associated in some cases with cerebral anomalies. It has been described in two families. Polydactyly may also be present. Linkage analysis allowed identification of mutations in the BMP4 gene, which has already been shown to play a role in eye development." "" + "peeling skin syndrome 4" "Any peeling skin syndrome in which the cause of the disease is a mutation in the CSTA gene." "" + "atrial septal defect 2" "Any atrial heart septal defect in which the cause of the disease is a mutation in the GATA4 gene." "" + "Spondyloenchondrodysplasia with immune dysregulation" "" + "mycobacterium tuberculosis, susceptibility to" "" + "mycobacterium tuberculosis, susceptibility to, 1" "" + "systemic lupus erythematosus with nephritis, susceptibility to, 1" "" + "systemic lupus erythematosus with nephritis, susceptibility to, 2" "" + "systemic lupus erythematosus with nephritis, susceptibility to, 3" "" + "Gaucher disease perinatal lethal" "Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD)." "" + "diaphanospondylodysostosis" "Diaphanospondylodysostosis is characterized by absent ossification of the vertebral bodies and sacrum associated with variable anomalies. It has been described in less than ten patients from different families. Manifestations include a short neck, a short wide thorax, a reduced number of ribs, a narrow pelvis, and inconstant anomalies such as myelomeningocele, cystic kidneys with nephrogenic rests, and cleft palate." "" + "obsolete HNP1" "" "true" + "pontocerebellar hypoplasia type 3" "Pontocerebellar hypoplasia type 3 (PCH3), also known as cerebellar atrophy with progressive microcephaly (CLAM) is a rare form of pontocerebellar hypoplasia with autosomal recessive transmission characterized neonatally by hypotonia and impaired swallowing and from infancy onward by seizures, optic atrophy and short stature, but none of the clinical findings are specific for PCH3." "" + "Thai symphalangism syndrome" "" + "infantile-onset autosomal recessive nonprogressive cerebellar ataxia" "" + "amyotrophic lateral sclerosis type 6" "Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the FUS gene." "" + "amyotrophic lateral sclerosis type 7" "" + "familial acute necrotizing encephalopathy" "Familial acute necrotizing encephalopathy or ADANE is a potentially fatal neurological disease characterised by neuropathological lesions principally involving the brainstem, thalamus and putamen." "" + "melanoma, cutaneous malignant, susceptibility to, 4" "" + "diabetes mellitus, noninsulin-dependent, 4" "" + "autism, susceptibility to, 3" "" + "retinal macular dystrophy type 2" "Retinal macular dystrophy type 2 is a rare, genetic macular dystrophy disorder characterized by slowly progressive ''bull's eye'' maculopathy associated, in most cases, with mild decrease in visual acuity and central scotomata. Usually, only the central retina is involved, however some cases of more widespread rod and cone anomalies have been reported. Rare additional features include empty sella turcica, impaired olfaction, renal infections, hematuria and recurrent miscarriages." "" + "bile and pancreatic ducts, complete absence of" "" + "sweet syndrome" "Sweet's syndrome (the eponym for acute febrile neutrophilic dermatosis) is characterized by a constellation of clinical symptoms, physical features, and pathologic findings which include fever, neutrophilia, tender erythematous skin lesions (papules, nodules, and plaques), and a diffuse infiltrate consisting predominantly of mature neutrophils that are typically located in the upper dermis." "" + "schizophrenia 11" "A schizophrenia that has material basis in a mutation on chromosome 10q22.3." "" + "hereditary sensory and autonomic neuropathy type 1B" "Hereditary sensory and autonomic neuropathy, type 1B (HSAN1B) is characterized by the association of type 1 HSAN with paroxysmal cough and gastroesophageal reflux (GOR)." "" + "Joubert syndrome 2" "Any Joubert syndrome in which the cause of the disease is a mutation in the TMEM216 gene." "" + "DPAGT1-CDG" "DPAGT1-CDG is a form of congenital disorders of N-linked glycosylation characterized by hypotonia, intractable seizures, developmental delay, microcephaly and severe fetal hypokinesia. Additional features that may be observed include apnea and respiratory deficiency, cataracts, joint contractures, vermian hypoplasia, dysmorphic features (esotropia, arched palate, micrognathia, finger clinodactyly, single flexion creases) and feeding difficulties. The disease is caused by loss-of-function mutations in the gene DPAGT1 (11q23.3)." "" + "familial temporal lobe epilepsy 2" "A temporal lobe epilepsy characterized by autosomal dominant inheritance of complex or partial seizures and childhood febrile seizures that has material basis in variation in the chromosome region 12q22-q23.3." "" + "periventricular heterotopia with microcephaly, autosomal recessive" "" + "heterotopia, periventricular, associated with chromosome 5P anomalies" "" + "autosomal recessive limb-girdle muscular dystrophy type 2D" "Autosomal recessive limb-girdle muscular dystrophy type 2D (LGMD2D) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by childhood onset of progressive proximal weakness of the shoulder and pelvic girdle muscles, resulting in difficulty walking, scapular winging, calf hypertrophy and contractures of the Achilles tendon, which lead to a tiptoe gait pattern. Cardiac and respiratory involvement is rare." "" + "qualitative or quantitative defects of alpha-sarcoglycan" "" + "ALG8-CDG" "A form of congenital disorders of N-linked glycosylation that is characterized by gastrointestinal symptoms (diarrhea, vomiting, feeding problems with failure to thrive, protein-losing enteropathy), edema and ascites (including hydrops fetalis), hepatomegaly, renal tubulopathy, coagulation anomalies due to thrombocytopenia, brain involvement (psychomotor delay, seizures, ataxia), facial dysmorphism (low-set ears and retrognathia), pes equinovarus, and muscular hypotonia. Cataracts may also be observed. Prognosis is usually poor. The disease is caused by loss-of-function mutations in the gene ALG8 (11q14.1), resulting in a block in the initial step of protein glycosylation." "" + "rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome" "" + "hyper-IgM syndrome type 5" "Any hyper-IgM syndrome in which the cause of the disease is a mutation in the UNG gene." "" + "ovarian hyperstimulation syndrome" "A complication of ovulation induction in infertility treatment. It is graded by the severity of symptoms which include ovary enlargement, multiple ovarian follicles; ovarian cysts; ascites; and generalized edema. The full-blown syndrome may lead to renal failure, respiratory distress, and even death. Increased capillary permeability is caused by the vasoactive substances, such as vascular endothelial growth factors, secreted by the overly-stimulated ovaries." "" + "zinc deficiency, transient neonatal" "" + "retinitis pigmentosa 7" "A retinitis pigmentosa that has material basis in mutation in the PRPH2 gene on chromosome 6p21." "" + "paternal uniparental disomy of chromosome 14" "" + "multiple congenital anomalies due to 14q32.2 maternally expressed gene defect" "Kagami-Ogata syndrome is a rare genetic disease characterized by polyhydramnios (mostly due to placentomegaly), fetal macrosomia, abdominal wall defects, skeletal abnormalities (including bell-shaped thorax, coat-hanger appearance of the ribs and decreased mid to wide thorax diameter ratio in infancy), feeding difficulties and impaired swallowing, dysmorphic features (hairy forehead, full cheeks, protruding philtrum, micrognathia), developmental delay and intellectual disability. Additional features may include kyphoskoliosis, joint contractures, diastasis recti, muscular hypotonia. There is increased risk of hepatoblastoma." "" + "uniparental disomy of paternal origin" "True" + "chromosome 14 disorder" "Chromosomal disorder in which chromosome 14 is affected." "" + "uniparental disomy" "A condition characterized by the inheritance of a chromosome pair from one parent and no chromosomal copies from the other parent. It results in developmental abnormalities or rare recessive disorders." "" + "lipodystrophy-intellectual disability-deafness syndrome" "Lipodystrophy-intellectual disability-deafness syndrome is an extremely rare form of genetic lipodystrophy, reported in 3 patients from one family to date, characterized by generalized congenital lipodystrophy, low birth weight, progressive sensorineural deafness occurring in childhood, intellectual deficit, progressive osteopenia, delayed skeletal maturation, skeletal abnormalities described as slender, undermineralized tubular bones, and dense metaphyseal striations in the distal femur, ulna and radius of older patients. Autosomal recessive inheritance has been suggested." "" + "8q22.1 microdeletion syndrome" "The 8q22.1 microdeletion syndrome or Nablus mask-like facial syndrome is a rare microdeletion syndrome associated with a distinct facial appearance." "" + "CoQ-responsive OXPHOS deficiency" "" + "autoimmune thyroid disease, susceptibility to, 1" "" + "autoimmune thyroid disease, susceptibility to, 2" "" + "autoimmune thyroid disease, susceptibility to, 3" "" + "autoimmune thyroid disease, susceptibility to, 4" "" + "synpolydactyly type 2" "Any non-syndromic synpolydactyly in which the cause of the disease is a mutation in the FBLN1 gene." "" + "hyper-IgM syndrome type 4" "A form of Hyper IgM syndrome which is a defect in class switch recombination downstream of the AICDA gene that does not impair somatic hypermutation." "" + "tropical pancreatitis" "Tropical pancreatitis is a rare pancreatic disease of juvenile onset occurring mainly in tropical developing countries and characterized by chronic non-alcoholic pancreatitis manifesting with abdominal pain, steatorrhea and fibrocalculous pancreatopathy. It is also commonly associated with the development of pancreatic calculi and pancreatic cancer at a much higher frequency than seen in ordinary chronic pancreatitis." "" + "cone-rod dystrophy 13" "Any cone-rod dystrophy in which the cause of the disease is a mutation in the RPGRIP1 gene." "" + "neutrophil immunodeficiency syndrome" "A primary immunodeficiency characterized by neutrophilia with severe neutrophil dysfunction, leukocytosis, a predisposition to bacterial infections and poor wound healing, including an absence of pus in infected areas." "" + "seizures, benign familial neonatal, 3" "" + "autosomal recessive nonsyndromic hearing loss 38" "An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 6q26-q27." "" + "hereditary spastic paraplegia 25" "Autosomal recessive spastic paraplegia type 25 (SPG25) is a rare, complex type of hereditary spastic paraplegia characterized by adult-onset spastic paraplegia associated with spinal pain that radiates to the upper or lower limbs and is related to disk herniation (with minor spondylosis), as well as mild sensorimotor neuropathy. The SPG25 phenotype has been mapped to a locus on chromosome 6q23-q24.1." "" + "aspirin resistance" "" + "autosomal dominant nonsyndromic hearing loss 41" "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the P2RX2 gene." "" + "cataract - congenital heart disease - neural tube defect syndrome" "Cataract-congenital heart disease-neural tube defect syndrome is a multiple congenital anomaly syndrome characterized by sacral neural tube defects resulting in tethered cord, atrial and/or ventricular septal heart defects (that are detected in infancy), bilateral, symmetrical hyperopia, rapidly progressive early childhood cataracts, bilateral aphakic glaucoma, and abnormal facial features (low frontal hairline, small ears, short philtrum, prominent, widely spaced central incisors, and micrognathia). hypotonia, growth and developmental delay, seizures, and joint limitation are also reported." "" + "Hermansky-Pudlak syndrome 2" "A type of Hermansky-Pudlak syndrome (HPS), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and neutropenia." "" + "autosomal dominant slowed nerve conduction velocity" "Autosomal dominant slowed nerve conduction velocity is a hereditary demyelinating motor and sensory neuropathy characterized by slowed nerve conduction velocities, in the absence of clinically apparent neurological deficits, gait abnormalities or muscular atrophy, associated with a germline mutation in the ARGHEF10 gene." "" + "otosclerosis 3" "" + "mandibulofacial dysostosis with ptosis, autosomal dominant" "" + "autosomal recessive nonsyndromic hearing loss 40" "An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 22q11.21-q12.1." "" + "autosomal recessive nonsyndromic hearing loss 39" "An autosomal recessive disorder caused by mutations in the HGF gene, encoding hepatocyte growth factor receptor. It is characterized by profound deafness." "" + "parathyroid gland carcinoma" "Parathyroid carcinoma (PRTC) is a very rare, slow-growing, clinically serious endocrine tumor that generally develops in mid-adulthood. PRTC presents as a palpable painless mass in the neck and causes severe hypercalcemia and related symptoms, non-specific gastrointestinal manifestations, as well as renal and bone complications related to primary hyperparathyroidism (nephrolithiasis, impaired renal function, osteoporosis, bone pain, and pathologic fractures, etc.). Some PRTCs are however non-functioning tumors." "" + "malignant tumor of parathyroid gland" "A cancer that involves the parathyroid gland." "" + "growth failure, microcephaly, intellectual disability, cataracts, large joint contractures, osteoporosis, cortical dysplasia, and cerebellar atrophy" "" + "craniosynostosis with ocular abnormalities and hallucal defects" "" + "scimitar anomaly, multiple cardiac malformations, and craniofacial and central nervous system abnormalities" "" + "Lelis syndrome" "Lelis syndrome is characterised by the association of ectodermal dysplasia (hypotrichosis and hypohidrosis) with acanthosis nigricans." "" + "coronary heart disease, susceptibility to, 2" "" + "coronary heart disease, susceptibility to, 4" "" + "coronary artery disease, autosomal dominant, 1" "Any coronary artery disease in which the cause of the disease is a mutation in the MEF2A gene." "" + "Charcot-Marie-Tooth disease dominant intermediate C" "Autosomal dominant intermediate Charcot-Marie-Tooth disease type C is a rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 60 m/s). It presents with moderately severe, slowly progressive usual clinical features of Charcot-Marie-Tooth disease (muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, feet deformities, extensor digitorum brevis atrophy). Findings in nerve biopsies include age-dependent axonal degeneration, reduced number of large myelinated fibres, segmental remyelination, and no onion bulbs." "" + "Weill-Marchesani syndrome 2, dominant" "A Weill-Marchesani syndrome characterized by progressive joint stiffness, glaucoma, short stature and lens dislocation. It has been described in three members of a family (the grandfather, his daughter and grandson). It is likely to be transmitted as an autosomal dominant trait. The acronym GEMSS (Glaucoma, Ectopia, Microspherophakia, Stiff joints, Short stature) was proposed as a name for the syndrome. This syndrome shows similarities to Moore-Federman syndrome." "" + "autosomal recessive intermediate Charcot-Marie-Tooth disease" "Autosomal recessive form of intermediate Charcot-Marie-Tooth disease." "" + "nystagmus 3, congenital, autosomal dominant" "" + "capillary malformation-arteriovenous malformation syndrome" "This syndrome is characterised by the association of multiple capillary malformations (CM) with an arteriovenous malformation (AVM) and arteriovenous fistulas." "" + "Parkes Weber syndrome" "Parkes Weber syndrome (PWS) is a rare congenital condition characterized by a large number of abnormal blood vessels.The main signs and symptoms of PWS typically include a capillary malformation on the skin; hypertrophy (excessive growth) ofthe bone and soft tissue of the affected limb; and multiple arteriovenousfistulas (abnormal connections between arteries and veins) which canpotentially lead to heart failure. There also may be pain in the affected limb and a difference in size between the limbs. Some cases of Parkes Weber syndrome result from mutations inthe RASA1 gene, andare inherited in an autosomal dominant manner. In these cases, affected people usually have multiple capillary malformations. People with PWS without multiple capillary malformations are unlikely to have mutations in the RASA1 gene; in these cases, the cause of the condition is often unknown. Management typically depends on the presence and severity of symptoms and may includeembolization or surgery in the affected limb." "" + "myopathy, myosin storage, autosomal dominant" "" + "spondyloepiphyseal dysplasia, Kimberley type" "Spondyloepiphyseal dysplasia, Kimberley type (SEDK) is characterized by short stature and premature degenerative arthropathy." "" + "aggrecan-related bone disorder" "" + "chromosome 22q11.2 microduplication syndrome" "The newly described 22q11.2 microduplication syndrome (dup22q11 syndrome) is the association of a broad clinical spectrum and a duplication of the region that is deleted in patients with DiGeorge or velocardiofacial syndrome (DG/VCFS), establishing a complementary duplication syndrome." "" + "partial duplication of the long arm of chromosome 22" "" + "myopia 17, autosomal dominant" "" + "orofacial cleft 4" "" + "autosomal dominant nonsyndromic hearing loss 49" "An autosomal dominant nonsyndromic deafness that is characterized by moderate loss for low and mid frequencies and mild loss for high frequencies and has material basis in variation in the chromosome region 1q21-q23." "" + "retinitis pigmentosa 26" "Any retinitis pigmentosa in which the cause of the disease is a mutation in the CERKL gene." "" + "branchiootic syndrome 3" "Any branchiootic syndrome in which the cause of the disease is a mutation in the SIX1 gene." "" + "obsolete myotonia, potassium-aggravated" "" "true" + "autoimmune disease, susceptibility to, 2" "" + "autoimmune disease, susceptibility to, 3" "" + "microcephaly 6, primary, autosomal recessive" "Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CENPJ gene." "" + "autosomal dominant nonsyndromic hearing loss 43" "An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 2p12." "" + "platelet-type bleeding disorder 10" "Any inherited bleeding disorder, platelet-type in which the cause of the disease is a mutation in the CD36 gene." "" + "Braddock syndrome" "Braddock syndrome is a rare malformation syndrome with multiple congenital abnormalities, described in 2 siblings, that is characterized by VACTERL -like association in combination with pulmonary hypertension, laryngeal webs, blue sclerae, abnormal ears, persistent growth deficiency and normal intellect." "" + "bradyopsia" "Bradyopsia is characterised by prolonged electroretinal response suppression leading to difficulties adjusting to changes in luminance, normal to subnormal acuity and photophobia." "" + "autosomal dominant limb-girdle muscular dystrophy type 1F" "Autosomal dominant limb-girdle muscular dystrophy type 1F (LGMD1F) is a subtype of autosomal dominant limb-girdle muscular dystrophy,with a variable age of onset, characterized by progressive, proximal weakness and wasting of the shoulder and pelvic musculature (with the pelvic girdle, and especially the ileopsoas muscle, being more affected) and frequent association of calf hypertrophy, dysphagia, arachnodactyly with or without finger contractures and/or distal and axial muscle involvement. Additional features include an abnormal gait, exercise intolerance, myalgia, fatigue and respiratory insufficiency. Cardiac conduction defects are typically not observed." "" + "muscular dystrophy, limb-girdle, autosomal dominant" "Autosomal dominant form of limb-girdle muscular dystrophy." "" + "craniosynostosis-intracranial calcifications syndrome" "Craniosynostosis-intracranial calcification is a form of syndromic craniosynostosis, characterized by pancraniosynostosis, head circumference below the mid-parental head circumference, mild facial dysmorphism (prominent supraorbital ridges, mild proptosis and maxillary hypoplasia) and calcification of the basal ganglia. The disease is associated with a favorable neurological outcome, normal intelligence and is inherited in an autosomal recessive manner." "" + "systemic lupus erythematosus, susceptibility to, 4" "" + "intellectual disability, autosomal recessive 3" "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the CC2D1A gene." "" + "speech-sound disorder" "" + "myocardial infarction, susceptibility to" "" + "inflammatory bowel disease 9" "An inflammatory bowel disease that has material basis in variation in the chromosome region 3p26." "" + "MUTYH-related attenuated familial adenomatous polyposis" "An autosomal recessive hereditary neoplastic syndrome caused by mutations in the MUTYH gene on chromosome 1p34.1. It is characterized by the presence of multiple colorectal polyps that may progress to carcinoma. Development of gastric and small intestinal polyps may also occur." "" + "attenuated familial adenomatous polyposis" "Attenuated familial adenomatous polyposis (AFAP) is a mild form of familial adenomatous polyposis characterized by the presence of fewer than 100 adenomatous colonic polyps, a more proximal colonic location, a delayed age of colorectal cancer (CRC) onset and a more limited expression of the extracolonic features." "" + "classic familial adenomatous polyposis" "Familial adenomatous polyposis (FAP) is characterized by the development of hundreds to thousands of adenomas in the rectum and colon during the second decade of life." "" + "hirschsprung disease, susceptibility to, 8" "" + "Reis-Bucklers corneal dystrophy" "Reis-Bücklers corneal dystrophy (RBCD), also known as granular corneal dystrophy type III, is a rare form of superficial corneal dystrophy characterized by bilateral symmetrical reticular opacities in the superficial central cornea, with progressive visual impairment." "" + "corneal dystrophy, lattice type 3A" "Lattice corneal dystrophy type 3A is rare condition that affects the cornea. It is characterized primarily by protein clumps in the clear, outer covering of the eye which cloud the cornea and impair vision. Affected people also experience recurrent corneal erosion (separation of certain layers of the cornea), which is associated with severe pain and sensitivity to bright light. Lattice corneal dystrophy type 3A is caused by changes (mutations) in the TGFBI gene and is inherited in an autosomal dominant manner. The condition is usually treated surgically." "" + "myopia 5, autosomal dominant" "" + "congenital corneal opacities, cornea guttata, and corectopia" "" + "alopecia universalis congenita, 10Y gonadal dysgenesis, and laryngomalacia" "" + "orofaciodigital syndrome VII" "" + "major depressive disorder 1" "" + "periodontitis, aggressive, 2" "" + "ALG1-CDG" "A severe form of congenital disorders of N-linked glycosylation characterized by severe developmental and psychomotor delay, muscular hypotonia, intractable early-onset seizures, and microcephaly. Additional features include altered blood coagulation with a high probability of hemorrhages or thromboses, nephrotic syndrome, ascites, hepatomegaly, cardiomyopathy, ocular manifestations (strabismus, nystagmus), and immunodeficiency. The disease is caused by loss-of-function mutations in the gene ALG1 (16p13.3)." "" + "aneurysm, intracranial berry, 2" "" + "schizophrenia 12" "A schizophrenia that has material basis in a mutation on chromosome 1p36.2." "" + "Larsen-like osseous dysplasia-short stature syndrome" "Larsen-like osseous dysplasia-short stature syndrome is a rare primary bone dysplasia characterized by a Larsen-like phenotype including multiple, congenital, large joint dislocations, craniofacial abnormalities (i.e. macrocephaly, flat occiput, prominent forehead, hypertelorism, low-set, malformed ears, flat nose, cleft palate), spinal abnormalities, cylindrical fingers, and talipes equinovarus, as well as growth retardation (resulting in short stature) and delayed bone age. Other reported clinical manifestations include severe developmental delay, hypotonia, clinodactyly, congenital heart defect and renal dysplasia." "" + "Leber congenital amaurosis 9" "Any Leber congenital amaurosis in which the cause of the disease is a mutation in the NMNAT1 gene." "" + "legionnaire disease, susceptibility to" "" + "myocardial infarction, susceptibility to, 2" "" + "polydactyly, postaxial, type A4" "" + "autosomal recessive nonsyndromic hearing loss 35" "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the ESRRB gene." "" + "dilated cardiomyopathy 1O" "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the ABCC9 gene." "" + "ulnar/fibula ray defect-brachydactyly syndrome" "Ulnar/fibula ray defect - brachydactyly syndrome is a very rare malformation syndrome characterized by ulnar hypoplasia associated with hypoplastic to absent fourth and/or fifth digits, fibular hypoplasia, short stature and facial dysmorphism." "" + "choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome" "Choanal atresia - deafness - cardiac defects - dysmorphism syndrome, also known as Burn-McKeown syndrome, is an extremely rare multiple congenital anomaly syndrome characterized by bilateral choanal atresia associated with a characteristic cranio-facial dysmorphism (hypertelorism with narrow palpebral fissures, coloboma of inferior eyelid with presence of eyelashes medial to the defect, prominent nasal bridge, thin lips, prominent ears), that can be accompanied by hearing loss, unilateral cleft lip, preauricular tags, cardiac septal defects and anomalies of the kidneys. The features of this syndrome overlaps considerably with those of the CHARGE syndrome." "" + "obsolete Stevens-Johnson syndrome" "" "true" + "atrial fibrillation, familial, 1" "" + "asthma-related traits, susceptibility to, 2" "Any inherited susceptibility to asthma in which the cause of the disease is a mutation in the NPSR1 gene." "" + "brachial palsy, familial congenital" "" + "keratoconus 3" "" + "obsolete autosomal dominant Charcot-Marie-Tooth disease type 2G" "" "true" + "congenital generalized lipodystrophy type 1" "Any congenital generalized lipodystrophy in which the cause of the disease is a mutation in the AGPAT2 gene." "" + "familial partial lipodystrophy, Kobberling type" "Familial partial lipodystrophy, Kobberling type, is a very rare form of familial partial lipodystrophy (FPLD) of unknown etiology characterized by lipoatrophy that is confined to the limbs and a normal or increased fat distribution of the face, neck, and trunk. Arterial hypertension and diabetes have also been associated. Inheritance is thought to be autosomal dominant." "" + "ribose-5-P isomerase deficiency" "Ribose-5-P isomerase deficiency is an extremely rare, hereditary, disorder of pentose phosphate metabolism characterized by progressive leukoencephalopathy and a highly increased ribitol and D-arabitol levels in the brain and body fluids. Clinical presentation includes psychomotor delay, epilepsy, and childhood-onset slow neurological regression with ataxia, spasticity, optic atrophy and sensorimotor neuropathy." "" + "mandibuloacral dysplasia with type B lipodystrophy" "" + "oligodontia-cancer predisposition syndrome" "" + "midface hypoplasia, obesity, developmental delay, and neonatal hypotonia" "" + "amyotrophic lateral sclerosis type 8" "Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the VAPB gene." "" + "Joubert syndrome 3" "Any Joubert syndrome in which the cause of the disease is a mutation in the AHI1 gene." "" + "Joubert syndrome with ocular defect" "Joubert syndrome with ocular defect is, along with pure JS, the most frequent subtype of Joubert syndrome and related disorders (JSRD) characterized by the neurological features of JS associated with retinal dystrophy." "" + "asperger syndrome, susceptibility to, 2" "" + "neuronopathy, distal hereditary motor, type 2B" "Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the HSPB1 gene." "" + "15q11q13 microduplication syndrome" "The 15q11-q13 microduplication (dup15q11-q13) syndrome is characterized by neurobehavioral disorders, hypotonia, cognitive deficit, language delay and seizures. Prevalence is unknown." "" + "partial duplication of the long arm of chromosome 15" "Chromosome 15q duplication is a chromosome abnormality that occurs when an extra (duplicate) copy of the genetic material located on the long arm (q) of chromosome 15 is present in each cell. The severity of the condition and the associated signs and symptoms vary based on the size and location of the duplication and which genes are involved. Common features shared by many people with this duplication include developmental delay; intellectual disability; hypotonia (low muscle tone); seizures ; high and/or cleft palate (roof of the mouth); scoliosis ; slow growth; communication difficulties; behavioral problems; and distinctive facial features. Most cases are not inherited, although affected people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person." "" + "asperger syndrome, susceptibility to, 1" "" + "autosomal dominant nonsyndromic hearing loss 28" "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the GRHL2 gene." "" + "aromatic L-amino acid decarboxylase deficiency" "Aromatic L-amino acid decarboxylase deficiency is a very rare, severe, genetic neurometabolic disorder associated with clinical manifestations related to underproduction of serotonin and dopamine, mainly hypotonia, hypokinesia, ptosis oculogyric crises, and signs of autonomic dysfunction." "" + "primary ciliary dyskinesia 3" "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAH5 gene." "" + "autosomal dominant nonsyndromic hearing loss 31" "An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 6p21.3." "" + "primary ciliary dyskinesia 4" "A primary ciliary dyskinesia that is characterized by partial absence of the inner dynein arms with variable occurrence of situs inversus and has material basis in variation in the chromosome region 15q13.1-q15.1." "" + "primary ciliary dyskinesia 5" "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the HYDIN gene." "" + "ichthyosis prematurity syndrome" "Ichthyosis prematurity syndrome is a rare, syndromic congenital ichthyosis characterized by premature birth (at gestational weeks 30-32, in general) in addition to thick, caseous and desquamating epidermis, neonatal respiratory asphyxia, and persistent eosinophilia. After the perinatal period, a spontaneous improvement in the health of affected patients is observed and skin features (vernix caseosa-like scale) evolve into a mild presentation of flat follicular hyperkeratosis with atopy." "" + "autosomal dominant nonsyndromic hearing loss 47" "An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 9p22-p21." "" + "autosomal recessive nonsyndromic hearing loss 32" "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has material basis in variation in the chromosome region 1p22.1-p13.3." "" + "hereditary sensory and autonomic neuropathy type 5" "Hereditary sensory and autonomic neuropathy, type 5 (HSAN5) is characterized by loss of pain perception and impaired temperature sensitivity, in the absence of any other major neurological anomalies." "" + "prostate cancer, hereditary, 3" "" + "prostate cancer, hereditary, 4" "" + "intellectual disability-brachydactyly-Pierre Robin syndrome" "Intellectual disability-brachydactyly-Pierre Robin syndrome is a rare developmental defect during embryogenesis characterized by mild to moderate intellectual disability and phsychomotor delay, Robin sequence (incl. severe micrognathia and soft palate cleft) and distinct dysmorphic facial features (e.g. synophris, short palpebral fissures, hypertelorism, small, low-set, and posteriorly angulated ears, bulbous nose, long/flat philtrum, and bow-shaped upper lip). Skeletal anomalies, such as brachydactyly, clinodactyly, small hands and feet, and oral manifestations (e.g. bifid, short tongue, oligodontia) are also associated. Additional features reported include microcephaly, capillary hemangiomas on face and scalp, ventricular septal defect, corneal clouding, nystagmus and profound sensorineural deafness." "" + "Charcot-Marie-Tooth disease axonal type 2L" "Autosomal dominant Charcot-Marie-Tooth disease type 2L (CMT2L) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. In the single family reported to date, CMT2L onset is between 15 and 33 years. Patients present with a symmetric distal weakness of legs and occasionally of the hands, absent or reduced tendon reflexes, distal legs sensory loss and frequently a pes cavus. Progression is slow." "" + "spondylocostal dysostosis 2, autosomal recessive" "" + "spinocerebellar ataxia type 20" "Spinocerebellar ataxia type 20 (SCA20) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by cerebellar dysarthria as the initial typical manifestation." "" + "AICA-ribosiduria" "AICA-ribosiduria is an extremely severe inborn error of purine biosynthesis characterized clinically in the single reported case to date by profound intellectual deficit, epilepsy, dysmorphic features of the knees, elbows, and shoulders and congenital blindness." "" + "major depressive disorder 2" "" + "glaucoma 1, open angle, J" "" + "glaucoma 1, open angle, K" "" + "spinocerebellar ataxia type 25" "Spinocerebellar ataxia type 25 (SCA25) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by cerebellar ataxia and prominent sensory neuropathy." "" + "acquired partial lipodystrophy" "A lipodystrophy characterised by the association of lipoatrophy of the upper part of the body and lipohypertrophy of the thighs." "" + "partial lipodystrophy" "Loss and redistribution of subcutaneous and/or visceral adipose tissue from specific regions of the body." "" + "acquired lipodystrophy" "An instance of lipodystrophy (disease) that is acquired during the lifetime of the individual." "" + "granulomatosis with polyangiitis" "A small-vessel necrotizing vasculitis characterised by the association of inflammation of the vessel wall and peri- and extravascular granulomatosis." "" + "Anti-neutrophil cytoplasmic antibody-associated vasculitis" "Group of systemic vasculitis with a strong association with anca. The disorders are characterized by necrotizing inflammation of small and medium size vessels, with little or no immune-complex deposits in vessel walls." "" + "microcephaly 5, primary, autosomal recessive" "Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the ASPM gene." "" + "neuropathy, hereditary sensory and autonomic, adult-onset, with anosmia" "" + "spondyloepimetaphyseal dysplasia, matrilin-3 type" "Spondyloepimetaphyseal dysplasia, matrilin-3 type is characterized by disproportionate early-onset dwarfism, bowing of the lower limbs, short, wide and stocky long bones with severe epiphyseal and metaphyseal changes, lumbar lordosis, hypoplastic iliac bones, flat ovoid vertebral bodies and normal hands." "" + "hypertension, essential, susceptibility to, 4" "" + "growth delay due to insulin-like growth factor type 1 deficiency" "Growth delay due to insulin-like growth factor I deficiency is characterised by the association of intrauterine and postnatal growth retardation with sensorineural deafness and intellectual deficit." "" + "hypertrophic cardiomyopathy 8" "Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the MYL3 gene." "" + "hypertrophic cardiomyopathy 10" "Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the MYL2 gene." "" + "epilepsy, idiopathic generalized, susceptibility to, 3" "" + "Ehlers-Danlos syndrome, Beasley-Cohen type" "" + "scoliosis, isolated, susceptibility to, 3" "" + "spinocerebellar ataxia type 8" "Spinocerebellar ataxia type 8 (SCA8) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I) characterized by cerebellar ataxia and cognitive dysfunction in almost three quarters of patients and pyramidal and sensory signs in approximately a third of patients." "" + "COG7-CDG" "COG7-CDG is a congenital disorder of glycosylation characterised by dysmorphism, skeletal dysplasia, hypotonia, hepatosplenomegaly, jaundice, cardiac insufficiency, recurrent infections and epilepsy. To date, it has been described in two infants, both of whom died within the first three months of life. The syndrome is caused by a mutation in the gene encoding COG-7 (chromosome 16), a subunit of the oligomeric Golgi complex." "" + "defect in conserved oligomeric Golgi complex" "" + "asperger syndrome, susceptibility to, 3" "" + "pyruvate dehydrogenase phosphatase deficiency" "Pyruvate dehydrogenase phosphatase deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD) characterized by lactic acidemia in the neonatal period." "" + "otosclerosis 5" "" + "moyamoya disease 3" "" + "congenital disorder of glycosylation type 1E" "The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type Ie is characterised by psychomotor delay, seizures, hypotonia, facial dysmorphism and microcephaly. Ocular anomalies are also very common." "" + "sudden infant death-dysgenesis of the testes syndrome" "Sudden infant death with dysgenesis of the testes (SIDDT) syndrome is a lethal condition in infants with dysgenesis of testes." "" + "hypomyelinating leukodystrophy 2" "Any leukodystrophy in which the cause of the disease is a mutation in the GJC2 gene." "" + "familial avascular necrosis of femoral head" "Avascular necrosis of femoral head (ANFH) is a severely disabling disease characterised by progressive groin pain, a limping gait, leg length discrepancy, collapse of the subchondral bone, limitation of hip function and eventual degeneration of the hip joint requiring total hip arthroplasty." "" + "primary avascular necrosis" "" + "autosomal recessive limb-girdle muscular dystrophy type 2J" "Autosomal recessive limb-girdle muscular dystrophy type 2J (LGMD2J) is a form of limb-girdle muscular dystrophy that usually has a childhood onset (but can range from the first to third decade of life) of severe progressive proximal weakness, eventually involving the distal muscles. Some patients may remain ambulatory but most are wheelchair dependant 20 years after onset." "" + "dextro-looped transposition of the great arteries 1" "Any dextro-looped transposition of the great arteries in which the cause of the disease is a mutation in the MED13L gene." "" + "dextro-looped transposition of the great arteries" "Congenitally uncorrected transposition of the great arteries (congenitally uncorrected TGA), also referred to as complete transposition, is a congenital cardiac malformation characterized by atrioventricular concordance and ventriculoarterial (VA) discordance." "" + "leukoencephalopathy, arthritis, colitis, and hypogammaglobulinema" "" + "myofibrillar myopathy 2" "Any autosomal dominant distal myopathy in which the cause of the disease is a mutation in the CRYAB gene." "" + "alpha-crystallinopathy" "" + "metaphyseal undermodeling, spondylar dysplasia, and overgrowth" "" + "colorectal cancer, susceptibility to, 1" "Any colorectal cancer in which the cause of the disease is a mutation in the GALNT12 gene." "" + "lateral semicircular canal malformation, familial, with external and middle ear abnormalities" "" + "myoclonic epilepsy, juvenile, susceptibility to, 3" "" + "restless legs syndrome, susceptibility to, 2" "" + "carnitine palmitoyl transferase II deficiency, neonatal form" "The neonatal form of carnitine palmitoyltransferase II (CPT II) deficiency, an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the lethal form of the disease which presents with multisystem failure." "" + "Carney complex - trismus - pseudocamptodactyly syndrome" "Carney complex-trismus-pseudocamptodactyly syndrome is a rare genetic heart-hand syndrome characterized by typical manifestations of the Carney complex (spotty pigmentation of the skin, familial cardiac and cutaneous myxomas and endocrinopathy) associated with trismus and distal arthrogryposis (presenting as involuntary contraction of distal and proximal interphalangeal joints of hands evident only on dorsiflexion of wrist and similar lower-limb contractures producing foot deformities)." "" + "muscular dystrophy-dystroglycanopathy type B6" "A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscular dystrophy with mental retardation and structural brain abnormalities that has material basis in homozygous or compound heterozygous mutation in the LARGE gene on chromosome 22q12." "" + "macular dystrophy, retinal, 3" "" + "obsolete pulmonary function" "" "true" + "orofacial cleft 6, susceptibility to" "Any orofacial cleft in which the cause of the disease is a mutation in the IRF6 gene." "" + "orofacial cleft 5" "Any orofacial cleft in which the cause of the disease is a mutation in the MSX1 gene." "" + "cleft lip and alveolus" "Cleft lip and alveolus is a fissure type embryopathy that involves the upper lip, nasal base and alveolar ridge in variable degrees." "" + "hereditary cryohydrocytosis with reduced stomatin" "" + "Waardenburg syndrome type 2D" "Any Waardenburg syndrome type 2 in which the cause of the disease is a mutation in the SNAI2 gene." "" + "macular degeneration, age-related, 3" "Any age-related macular degeneration in which the cause of the disease is a mutation in the FBLN5 gene." "" + "familial hemophagocytic lymphohistiocytosis 3" "Any genetic hemophagocytic lymphohistiocytosis in which the cause of the disease is a mutation in the UNC13D gene." "" + "coronary heart disease, susceptibility to, 5" "Any coronary artery disease in which the cause of the disease is a mutation in the KALRN gene." "" + "obsolete drug metabolism, poor, CYP2D6-related" "" "true" + "attention deficit-hyperactivity disorder, susceptibility to, 1" "" + "attention deficit-hyperactivity disorder, susceptibility to, 2" "" + "attention deficit-hyperactivity disorder, susceptibility to, 3" "" + "attention deficit-hyperactivity disorder, susceptibility to, 4" "" + "Alzheimer disease 9" "" + "myopia 6" "Any myopia in which the cause of the disease is a mutation in the SCO2 gene." "" + "choanal atresia" "Choanal atresia (CA) is a congenital anomaly of the posterior nasal airway characterized by the obstruction of one (unilateral) or both (bilateral) choanal aperture(s), with clinical manifestations ranging from acute respiratory distress to chronic nasal obstruction." "" + "myasthenic syndrome, congenital, 1B, fast-channel" "A congenital myasthenic syndrome characterized by defects in postsynaptic neuromuscular junctions with early-onset progressive muscle weakness that has material basis in mutation in the CHRNA1 gene on chromosome 2q." "" + "congenital myasthenic syndrome 4C" "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset muscle weakness, and low amplitude of the miniature endplate potential and current that has material basis in homozygous or compound heterozygous mutation in the CHRNE gene on chromosome 17p13." "" + "keratoconus 2" "" + "lung cancer susceptibility 1" "" + "spondylometaphyseal dysplasia-cone-rod dystrophy syndrome" "Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome is characterised by the association of spondylometaphyseal dysplasia (marked by platyspondyly, shortening of the tubular bones and progressive metaphyseal irregularity and cupping), with postnatal growth retardation and progressive visual impairment due to cone-rod dystrophy. So far, it has been described in eight individuals. Transmission appears to be autosomal recessive." "" + "susceptibility to respiratory infections associated with CD8alpha chain mutation" "Susceptibility to respiratory infections associated with CD8 alpha chain mutation is a rare primary immunodeficiency due to a defect in adaptive immunity characterized by the absence of CD8+ T cells with normal immunoglobulin and specific antibody titres in blood and susceptibility to recurrent respiratory bacterial and viral infections. Symptom severity range from fatal respiratory insufficiency to mild or asymptomatic phenotypes." "" + "patterned macular dystrophy 2" "Any patterned macular dystrophy in which the cause of the disease is a mutation in the CTNNA1 gene." "" + "severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive" "A severe combined immunodeficiency characterized by being T cell-negative, B cell-positive and natural killer cell-positive and that has material basis in homozygous or compound heterozygous mutation in the IL7R gene on chromosome 5p13 or the CD45 gene on chromosome 1q31." "" + "Meacham syndrome" "Meacham syndrome is a multiple malformation syndrome characterized by congenital diaphragmatic abnormalities, genital defects and cardiac malformations." "" + "BNAR syndrome" "BNAR syndrome is a very rare multiple congenital anomaly syndrome characterized by a bifid nose (with bulbous nasal tip but not associated with hypertelorism) with or without the presence of anal defects (i.e. anteriorly placed anus, rectal stenosis or atresia) and renal dysplasia (unilateral or bilateral renal agenesis) and without intellectual disability. BNAR syndrome is phenotypically related to Fraser syndrome and oculotrichoanal syndrome." "" + "autosomal dominant sensory ataxia 1" "Any hereditary ataxia in which the cause of the disease is a mutation in the RNF170 gene." "" + "sensory ataxia" "Any ataxia in which the causes of the disease is a perturbation of the sensory system, leading to its dysfunction." "" + "atrial fibrillation, familial, 2" "" + "dyslexia, susceptibility to, 8" "" + "premature ovarian failure 3" "" + "autosomal recessive nonsyndromic hearing loss 36" "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the ESPN gene." "" + "marfanoid habitus with situs inversus" "" + "mitochondrial trifunctional protein deficiency" "Mitochondrial trifunctional protein (TFP) deficiency (TFPD) is a disorder of fatty acid oxidation characterized by a wide clinical spectrum ranging from severe neonatal manifestations including cardiomyopathy, hypoglycemia, metabolic acidosis, skeletal myopathy and neuropathy, liver disease and death to a mild phenotype with peripheral polyneuropathy, episodic rhabdomyolysis and pigmentary retinopathy.." "" + "long chain 3-hydroxyacyl-CoA dehydrogenase deficiency" "Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) is a mitochondrial disorder of long chain fatty acid oxidation characterized in most patients by onset in infancy/ early childhood with hypoketotic hypoglycemia, metabolic acidosis, liver disease, hypotonia and frequently cardiac involvement with arrhythmias and/or cardiomyopathy." "" + "3-hydroxyacyl-CoA dehydrogenase deficiency" "" + "peripheral cone dystrophy" "" + "cataract 28" "A cataract that has material basis in variation in the region 6p12-q12." "" + "Emanuel syndrome" "Emanuel syndrome is a constitutional genomic disorder due to the presence of a supernumerary derivative 22 chromosome and characterized by severe intellectual disability, characteristic facial dysmorphism (micrognathia, hooded eyelids, upslanting downslanting parebral fissures, deep set eyes, low hanging columnella and long philtrum), congenital heart defects and kidney abnormalities." "" + "posterior column ataxia-retinitis pigmentosa syndrome" "Posterior column ataxia - retinitis pigmentosa is characterized by the association of progressive sensory ataxia and retinitis pigmentosa." "" + "FLVCR1-related retinopathy with or without ataxia" "A disorder characterized by retinopathy with ataxia in most patients, caused by biallelic variants in the FLVCR1 gene." "" + "intellectual disability with optic atrophy, facial dysmorphism, microcephaly, and short stature" "" + "narcolepsy 3" "" + "arrhythmogenic right ventricular dysplasia 9" "Any familial isolated arrhythmogenic right ventricular dysplasia in which the cause of the disease is a mutation in the PKP2 gene." "" + "hereditary spastic paraplegia 27" "A hereditary spastic paraplegia that has material basis in variation in the chromosome region 10q22.1-q24.1." "" + "skeletal dysplasia, rhizomelic, with retinitis pigmentosa" "" + "melanoma, cutaneous malignant, susceptibility to, 3" "" + "Pierson syndrome" "Pierson syndrome is characterised by the association of congenital nephrotic syndrome and ocular anomalies with microcoria." "" + "LAMB2-related infantile-onset nephrotic syndrome" "LAMB2-related infantile-onset nephrotic syndrome is a rare primary glomerular disease due to homozygous mutations in LAMB2 gene, characterized by prenatal or early-onset progressive steroid-resistant nephrotic syndrome leading to renal failure, and variable ocular defects including myopia, fundus abnormalities, strabismus or nystagmus, without severe visual impairment or blindness. Patients present in early infancy with massive proteinuria, edema, hypertension, and hyperlipidemia. Psychomotor development is normal." "" + "spondylometaphyseal dysplasia, A4 type" "" + "Fanconi anemia complementation group I" "Fanconi anemia caused by mutations in the FANCI gene, encoding Fanconi anemia group I protein." "" + "Fanconi anemia complementation group J" "Fanconi anemia caused by mutations in the BRIP1 gene, encoding Fanconi anemia group J protein." "" + "neuronal ceroid lipofuscinosis 9" "Neuronal ceroid lipofuscinosis 9 (CLN9-NCL) is a rare condition that affects the nervous system. Signs and symptoms of the condition generally develop in early childhood (average age 4 years) and may include loss of muscle coordination (ataxia), seizures that do not respond to medications, muscle twitches (myoclonus), visual impairment, and developmental regression (the loss of previously acquired skills). The underlying genetic cause of CLN9-NCLis unknown but it appears to be inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms." "" + "obsolete Amish infantile epilepsy syndrome" "" "true" + "nephrotic syndrome - deafness - pretibial epidermolysis bullosa syndrome" "" + "hepatoencephalopathy due to combined oxidative phosphorylation defect type 1" "Hepatoencephalopathy due to combined oxidative phosphorylation deficiency type 1 is a rare, inherited mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by intrauterine growth retardation, metabolic decompensation with recurrent vomiting, persistent severe lactic acidosis, encephalopathy, seizures, failure to thrive, severe global developmental delay, poor eye contact, severe muscular hypotonia or axial hypotonia with limb hypertonia, hepatomegaly and/or liver dysfunction and/or liver failure, leading to fatal outcome in severe cases. Neuroimaging abnormalities may include corpus callosum thinning, leukodystrophy, delayed myelination and basal ganglia involvement." "" + "permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome" "Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome is characterized by neonatal diabetes mellitus associated with cerebellar and/or pancreatic agenesis." "" + "neonatal diabetes mellitus" "Neonatal diabetes mellitus presents as hyperglycemia, failure to thrive and, in some cases, dehydration and ketoacidosis which may be severe with coma, in a child within the first months of life." "" + "autosomal dominant limb-girdle muscular dystrophy type 1G" "Autosomal dominant limb-girdle muscular dystrophy (LGMD1G) is a mild subtype of autosomal dominant limb-girdle muscular dystrophy characterized by a typically adult onset of mild, progressive, proximal weakness of pelvic and shoulder girdle muscles and progressive, permanent finger and toes flexion limitation without flexion contractures. Normal to highly elevated creatine kinase serum levels are observed." "" + "aneurysm, intracranial berry, 3" "" + "arthrogryposis-severe scoliosis syndrome" "Distal arthrogryposis type 4 is an inherited developmental defect syndrome characterized by multiple congenital contractures of limbs, without primary neurologic and/or muscle disease that affects limb function, and a mild to severe scoliosis. Intelligence is normal." "" + "autosomal dominant auditory neuropathy 1" "Any auditory neuropathy in which the cause of the disease is a mutation in the DIAPH3 gene." "" + "PCWH syndrome" "Waardenburg-Shah syndrome, neurologic variant, also referred to as Peripheral demyelinating neuropathy, Central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease (PCWH), is characterized by the association of the features of WSS (sensorineural hearing loss, pigmentary abnormalities and Hirschsprung disease) with neurological features, namely, neonatal hypotonia, intellectual deficit (of variable severity), nystagmus, progressive spasticity, ataxia and epilepsy." "" + "posterior polymorphous corneal dystrophy 2" "Any posterior polymorphous corneal dystrophy in which the cause of the disease is a mutation in the COL8A2 gene." "" + "posterior polymorphous corneal dystrophy 3" "Any posterior polymorphous corneal dystrophy in which the cause of the disease is a mutation in the ZEB1 gene." "" + "obsolete tibia, bowing of, with pseudarthrosis and pectus excavatum" "" "true" + "malaria, mild, susceptibility to" "" + "malaria, susceptibility to" "" + "familial hyperthyroidism due to mutations in TSH receptor" "Familial non-autoimmune autosomal dominant hyperthyroidism (FNAH) is a rare hyperthyroidism characterized by mild to severe hyperthyroidism, presence of goiter, absence of features of autoimmunity, frequent relapses while on treatment and a positive family history." "" + "familial pseudohyperkalemia" "An inherited, mild, non-hemolytic subtype of hereditary stomatocytosis that is associated with a temperature-dependent anomaly in red cell membrane permeability to potassium that leads to high in vitro potassium levels in samples stored below 37°C. FP is not associated with additional hematological abnormalities, although affected individuals may show some mild abnormalities like macrocytosis." "" + "autosomal dominant striatal neurodegeneration type 1" "Autosomal dominant striatal degeneration is a neurologic disorder characterized by variable movement abnormalities due to dysfunction in the striatal part of the basal ganglia." "" + "Czech dysplasia, metatarsal type" "Czech dysplasia, metatarsal type is a form of skeletal dysplasia characterised by severe arthropathy beginning in childhood and hypoplasia/dysplasia of the third, fourth and/or fifth toes." "" + "umbilicus, familial flat" "" + "congenital reticular ichthyosiform erythroderma" "" + "branchiogenic deafness syndrome" "Branchiogenic deafness syndrome is a multiple congenital anomalies syndrome, described in one family to date, characterized by branchial cysts or fistulae; ear malformations; congenital hearing loss (conductive, sensorineural, and mixed); internal auditory canal hypoplasia; strabismus; trismus; abnormal fifth fingers; vitiliginous lesions, short stature; and mild learning disability. Renal and uretral abnormalities are absent." "" + "migraine with aura, susceptibility to, 7" "" + "MPDU1-CDG" "The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type If is characterised by psychomotor delay, seizures, failure to thrive, and cutaneous and ocular anomalies." "" + "Loeys-Dietz syndrome 1" "A rare autosomal dominant syndrome caused by mutations in the TGFBR1 gene. It is characterized by vascular abnormalities (aortic and arterial aneurysms, aortic dissection, and tortuosity of the arteries), hypertelorism, bifid uvula, and early fusion of the skull bones." "" + "Loeys-Dietz syndrome" "Loeys-Dietz syndrome is a rare genetic connective tissue disorder characterized by a broad spectrum of craniofacial, vascular and skeletal manifestations with four genetic subtypes described forming a clinical continuum." "" + "hereditary spastic paraplegia 26" "A rare, complex type of hereditary spastic paraplegia characterized by the onset in childhood/adolescence (ages 2-19) of progressive spastic paraplegia associated mainly with mild to moderate cognitive impairment and developmental delay, cerebellar ataxia, dysarthria, and peripheral neuropathy. Less commonly reported manifestations include skeletal abnormalities (i.e. pes cavus, scoliosis), dyskinesia, dystonia, cataracts, cerebellar signs (i.e. saccadic dysfunction, nystagmus, dysmetria), bladder disturbances, and behavioral problems. SPG26 is caused by mutations in the B4GALNT1 gene (12q13.3), encoding Beta-1, 4 N-acetylgalactosaminyltransferase 1." "" + "glucocorticoid deficiency 3" "" + "qualitative or quantitative defects of myotilin" "" + "foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome" "" + "Bruck syndrome 2" "Any Bruck syndrome in which the cause of the disease is a mutation in the PLOD2 gene." "" + "dandy-walker malformation with occipital cephalocele, autosomal dominant" "" + "spondyloepiphyseal dysplasia tarda, autosomal recessive, Leroy-Spranger type" "" + "Griscelli syndrome type 3" "A Griscelli syndrome characterized by isolated silvery gray sheen of the hair and hypopigmentation of the skin that has material basis in mutation in the MLPH or MYO5A genes." "" + "alpha-N-acetylgalactosaminidase deficiency type 1" "Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 1 is a very rare and severe type of NAGA deficiency characterized by infantile neuroaxonal dystrophy." "" + "alpha-N-acetylgalactosaminidase deficiency" "Alpha-N-acetylgalactosaminidase (NAGA) deficiency is a very rare lysosomal storage disease that is clinically and pathologically heterogeneous and is characterized by deficient NAGA activity." "" + "alpha-N-acetylgalactosaminidase deficiency type 2" "Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 2 is a very rare mild adult type of NAGA deficiency with the features of angiokeratoma corporis diffusum and mild sensory neuropathy." "" + "hypotrichosis, progressive patterned scalp, with wiry hair, onycholysis, and cleft lip/palate" "" + "febrile seizures, familial, 6" "" + "Senior-Loken syndrome 5" "Any Senior-Loken syndrome in which the cause of the disease is a mutation in the IQCB1 gene." "" + "febrile seizures, familial, 5" "" + "myopia 7" "" + "myopia 8" "" + "myopia 9" "" + "myopia 10" "" + "Charcot-Marie-Tooth disease type 2A2" "Autosomal dominant Charcot-Marie-Tooth disease type 2A2 (CMT2A2) is a subtype of Autosomal dominant Charcot-Marie-Tooth disease type 2 characterized by the childhood onset of distal weakness and areflexia (with earlier and more severe involvement of the lower extremities), reduced sensory modalities (primarily pain and temperature sensation), foot deformities, postural tremor, scoliosis and contractures. Optic atrophy, vocal cord palsy with dysphonia, sensorineural hearing loss, spinal cord abnormalities and hydrocephalus have also been reported." "" + "stuttering, familial persistent, 2" "" + "Li-Fraumeni syndrome 2" "Any Li-Fraumeni syndrome in which the cause of the disease is a mutation in the CHEK2 gene." "" + "obsolete LFS3" "" "true" + "autosomal recessive spinocerebellar ataxia 7" "Spinocerebellar ataxia autosomal recessive 7, also called SCAR7, is a slowly progressive hereditary form of spinocerebellar ataxia. Symptoms of SCAR7 can include difficulty walking and writing, speech difficulties (dysarthria), limb ataxia, and a decrease in the size of a region of the brain called the cerebellum (cerebellar atrophy). Of the few reported cases in the literature, some patients also had eye involvement that included nystagmus (in voluntary eye movements)and saccadic pursuit eye movements. Out of 5 affected siblings examined in a large Dutch family, 2 became wheelchair-dependent late in life. The severity of the symptoms varies from mild to severe. SCAR7 is caused by mutations in the TPP1 gene and is inherited in an autosomal recessive manner." "" + "keratoconus 4" "" + "nemaline myopathy 6" "Any nemaline myopathy in which the cause of the disease is a mutation in the KBTBD13 gene." "" + "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2" "Any progressive external ophthalmoplegia with mitochondrial DNA deletions in which the cause of the disease is a mutation in the SLC25A4 gene." "" + "nemaline myopathy 1" "Any nemaline myopathy in which the cause of the disease is a mutation in the TPM3 gene." "" + "nemaline myopathy 4" "Any nemaline myopathy in which the cause of the disease is a mutation in the TPM2 gene." "" + "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3" "Any progressive external ophthalmoplegia with mitochondrial DNA deletions in which the cause of the disease is a mutation in the TWNK gene." "" + "syncope, familial vasovagal" "" + "B-cell immunodeficiency, distal limb anomalies, and urogenital malformations" "" + "prostate cancer, hereditary, 5" "" + "developmental and epileptic encephalopathy, 3" "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SLC25A22 gene." "" + "spinocerebellar ataxia type 26" "Spinocerebellar ataxia type 26 (SCA26) is a very rare subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by late-onset and slowly progressive cerebellar signs (gait ataxia) and eye movement abnormalities." "" + "spinocerebellar ataxia type 27" "Spinocerebellar ataxia type 27 (SCA27) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by early-onset tremor, dyskinesia, and slowly progressive cerebellar ataxia." "" + "autosomal recessive limb-girdle muscular dystrophy type 2K" "Autosomal recessive limb-girdle muscular dystrophy type 2K (LGMD2K) is a form of limb-girdle muscular dystrophy characterized by the onset of slowly progressive proximal muscle weakness during childhood (with fatigue and difficulty running and climbing stairs) and developmental delay. Mild intellectual deficit and microcephaly, without any obvious structural brain abnormality, are found in all patients. Mild pseudohypertrophy and joint contractures of the ankles have also been reported." "" + "colorectal cancer, hereditary nonpolyposis, type 2" "Any hereditary nonpolyposis colon cancer in which the cause of the disease is a mutation in the MLH1 gene." "" + "Charcot-Marie-Tooth disease type 4H" "Charcot-Marie-Tooth disease, type 4H (CMT4H) is a demyelinating CMT peripheral sensorimotor polyneuropathy" "" + "MEDNIK syndrome" "MEDNIK syndrome, previously known as Erythrokeratodermia Variabilis type 3 (EKV3), is characterized by intellectual deficit, enteropathy, sensorineural hearing loss, peripheral neuropathy, lamellar and erythrodermic ichthyosis, and keratodermia (MEDNIK stands for Mental retardation, Enteropathy, Deafness, peripheral Neuropathy, Ichtyosis, Keratodermia)." "" + "rhabdoid tumor predisposition syndrome 1" "Any familial rhabdoid tumor in which the cause of the disease is a mutation in the SMARCB1 gene." "" + "familial rhabdoid tumor" "A neoplastic syndrome most often caused by mutations in the hSNF5/INI1 tumor suppressor gene. It is characterized by the development of an atypical teratoid/rhabdoid tumor in infancy and early childhood. This highly aggressive tumor develops in the central nervous system as an isolated lesion or in combination with extrarenal or renal rhabdoid tumor. Patients may also develop other central nervous system malignancies including medulloblastoma, supratentorial primitive neuroectodermal tumor, and choroid plexus carcinoma." "" + "multiple epiphyseal dysplasia, with severe proximal femoral dysplasia" "Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia is a rare primary bone dysplasia characterized by severe, early-onset dysplasia of the proximal femurs, with almost complete absence of the secondary ossification centers and abnormal development of the femoral necks (short and broad with irregular metaphyses). It is associated with gait abnormality, mild short stature, arthralgia, joint stiffness with limited mobility of the hips and irregular acetabula, and hip and knee pain. Coxa vara and mild spinal changes are also associated." "" + "multiple epiphyseal dysplasia, with miniepiphyses" "Multiple epiphyseal dysplasia, with miniepiphyses is a rare primary bone dysplasia disorder characterized by strikingly small secondary ossification centers (mini-epiphyses) in all or only some joints, resulting in severe bone dysplasia of the proximal femoral heads. Short stature, increased lumbar lordosis, genua vara and generalized joint laxity have also been reported." "" + "chromosome 18 pericentric inversion" "" + "chromosome inversion" "A type of chromosome rearrangement in which a segment has been turned through 180 degrees (inverted), and inserted back into its original location on the chromosome." "" + "chromosome 18 disorder" "Chromosomal disorder in which chromosome 18 is affected." "" + "hereditary spastic paraplegia 28" "Autosomal recessive spastic paraplegia type 28 is a pure form of hereditary spastic paraplegia characterized by a childhood or adolescent onset of slowly progressive, pure crural muscle spastic paraparesis which manifests with mild lower limb weakness, gait difficulties, extensor plantar responses, and hyperreflexia of lower extremities. Less common manifestations reported include cerebellar oculomotor disturbance with saccadic eye pursuit, pes cavus and scoliosis. Some patients also present pin and vibration sensory loss in distal legs." "" + "autosomal recessive pure spastic paraplegia" "Autosomal recessive form of pure hereditary spastic paraplegia." "" + "Cerebrorenodigital syndrome" "" + "epidermolysis bullosa simplex with circinate migratory erythema" "Epidermolysis bullosa simplex with circinate migratory erythema (EBS-migr) is a basal subtype of epidermolysis bullosa simplex (EBS) characterized by belt-like areas of erythema with multiple vesicles and small blisters at the advancing edge of erythema." "" + "colloid cysts of third ventricle" "Colloid cysts of the third ventricle are non-cancerous brain lesions. The third ventricle is a cavity in the brain that is filled with cerebral spinal fluid (CSF). Colloid cysts can cause blockages resulting in a build up of CSF in the brain (hydrocephalus) and increased pressure. Some colloid cysts are asymptomatic while others cause neurological symptoms, such as headaches, swelling of the optic nerve (papilledema), and drop attacks. When symptoms are present onset tends to be in the third to sixth decade of life. While uncommon, symptoms of colloid cyst can become life threatening." "" + "cataract 35" "A cataract that has material basis in variation in the region 19q13." "" + "autism, susceptibility to, 6" "" + "fibrosis of extraocular muscles, congenital, 3c" "" + "autoimmune disease, susceptibility to, 4" "" + "preeclampsia/eclampsia 2" "" + "preeclampsia/eclampsia 3" "" + "preeclampsia/eclampsia 4" "Any preeclampsia in which the cause of the disease is a mutation in the STOX1 gene." "" + "holoprosencephaly 8" "A holoprosencephaly that has material basis in variation in the chromosome region 14q13." "" + "chromosome 3q29 microdeletion syndrome" "3q29 microdeletion syndrome is a recurrent subtelomeric deletion syndrome with variable clinical manifestations including intellectual deficit and dysmorphic features." "" + "partial deletion of the long arm of chromosome 3" "" + "Tukel syndrome" "" + "mesoaxial synostotic syndactyly with phalangeal reduction" "Mesoaxial synostotic syndactyly (MSSD) with phalangeal reduction is a novel and distinct form of non-syndromic syndactyly including complete syndactyly of the 3rd and 4th fingers with synostoses of the corresponding metacarpals and associated single phalanges, syndactyly of the 2nd and 3rd toes and 5th finger clinodactyly." "" + "intellectual disability, keratoconus, febrile seizures, and sinoatrial block" "" + "autosomal recessive nonsyndromic hearing loss 48" "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the CIB2 gene." "" + "acromesomelic dysplasia, Demirhan type" "" + "fetal valproate syndrome" "Fetal valproate syndrome (FVS), is an anticonvulsant drug-related embryofetopathy that can occur when a fetus is exposed to valproic acid (VPA), characterized by distinct facial dysmorphism, congenital anomalies and developmental delay (especially in language and communication)." "" + "fetal anticonvulsant syndrome" "" + "generalized epilepsy-paroxysmal dyskinesia syndrome" "Generalized epilepsy-paroxysmal dyskinesia syndrome is characterised by the association of paroxysmal dyskinesia and generalised epilepsy (usually absence or generalised tonic-clonic seizures) in the same individual or family. The prevalence is unknown. Analysis in one of the reported families led to the identification of a causative mutation in the KCNMA1 gene (chromosome 10q22), encoding the alpha subunit of the BK channel. Transmission is autosomal dominant." "" + "myofibrillar myopathy 4" "Late-onset distal myopathy, Markesbery-Griggs type is a rare, genetic, non-dystrophic myofibrillar myopathy disorder characterized by late-adult onset of distal and/or proximal limb muscle weakness with initial involvement of posterior lower leg muscles, medial gastrocnemius and soleus. Patients present with ankle weakness followed by weakness of finger and wrist extensors and later on of proximal muscles. Ambulation is usually preserved. Late-onset associated cardiomyopathy and/or neuropathy has been reported in a minority of cases." "" + "qualitative or quantitative defects of protein ZASP" "" + "supranuclear palsy, progressive, 2" "" + "congenital muscular dystrophy merosin-positive" "The congenital muscle dystrophies are currently classified according to the genetic defects. Historically, congenital muscular dystrophies were classified in two broad groups: Classic CMD (which included the Merosin-deficient CMD and the Merosin-positive CMD) and the CMD with central nervous system (CNS) abnormalities (Fukuyama CMD, muscle-eye-brain disease and Walker-Warburg syndrome). Therefore, merosin-positive congenital muscle dystrophy (CMD) is now considered an old term which refers to a group of diseases without structural brain abnormalities that are caused by a variety of gene mutations, resulting in protein defects that do not affect the merosin protein. Itusually has a milder phenotype than the merosin-negative CMD dystrophy group and includes, among others: Classic CMD without distinguishing features Rigid spine syndrome associated with mutations in the selenoprotein N1 gene (SEPN1) CMD with hyperextensible distal joints (Ullrich type) CMD with intellectual disability or sensory abnormalities. The pattern of muscle weakness and wasting in the patients within this group of congenital muscular dystrophy conditions is worse in the proximal upper limb-girdle and trunk muscles. Lower limb muscles may be mildly involved. Muscle biopsy shows a dystrophic pattern with normal staining for dystrophin, laminin alpha-2 of merosin and the sarcoglycans." "" + "Goldberg-Shprintzen megacolon syndrome" "Goldberg-Shprintzen megacolon syndrome is a multiple malformation syndrome characterized by Hirschprung megacolon with microcephaly, hypertelorism, submucous cleft palate, short stature and learning disability." "" + "obsolete sarcoidosis, early-onset" "" "true" + "Al-Gazali syndrome" "An autosomal recessive syndrome characterized by joint contractures, skeletal abnormalities, anterior segment anomalies of the eye and early lethality." "" + "cleft palate, midfacial hypoplasia, triangular facies, and sensorineural hearing loss" "" + "nephropathy, progressive, with deafness" "" + "left ventricular noncompaction 2" "" + "myopathy, autophagic vacuolar, infantile-onset" "" + "Stickler syndrome, type I, nonsyndromic ocular" "" + "iridogoniodysgenesis and skeletal anomalies" "" + "myofibrillar myopathy 5" "Muscle filaminopathy is a rare myofibrillar myopathy characterized by slowly progressive, proximal skeletal muscle weakness, which is initially more prominent in lower extremities and involves upper extremities with disease progression. Patients present with difficulty climbing stairs, a waddling gait, marked winging of scapula, lower back pain, paresis of limb girdle musculature, hypo-/areflexia and/or mild facial muscle weakness in rare cases. Respiratory muscle weakness is common and cardiac anomalies (conduction blocks, tachycardia, diastolic dysfunction, left ventricular hypertrophy) have been reported in some cases." "" + "qualitative or quantitative defects of filamin C" "" + "CEDNIK syndrome" "CEDNIK syndrome is a neurocutaneaous syndrome characterized by severe developmental abnormalities of the nervous system and aberrant differentiation of the epidermis." "" + "immunoglobulin A deficiency 2" "Any selective IgA deficiency disease in which the cause of the disease is a mutation in the TNFRSF13B gene." "" + "hepatitis C virus, susceptibility to" "" + "autosomal recessive nonsyndromic hearing loss 23" "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the PCDH15 gene." "" + "obsolete drug metabolism, poor, Cyp2C19-related" "" "true" + "complement component 5 deficiency" "A rare genetic disorder with an autosomal recessive pattern of inheritance. It is caused by the ineffective or decreased biosynthesis of the fifth complement component, C5. C5 deficiency may also be acquired acutely post-infection. If C5 is adequately synthesized, its rapid depletion may result in a functional deficiency. Clinical signs of the inherited deficiency present within the second decade of life and are consistent with the signs of recurrent systemic infection. Deficiency of serum C5 and its major cleavage product, C5b, a component of the membrane attack complex, increases susceptibility to Neisserial infections." "" + "immunodeficiency due to a late component of complement deficiency" "A genetic deficiency of any membrane attack complex (MAC, also known as terminal component complex (TCC)) component of the complement system (C5, C6, C7, C8, C9). Deficiencies of the terminal complement pathway results in a predisposition to infections, such as invasive meningococcal disease or disseminated gonococcal infection." "" + "lipomyelomeningocele" "Lipomyelomeningocele is a rare neural tube closure defect characterized by a subcutaneous lipoma that extends through a defect in the lumbodorsal fascia, vertebral neural arch, and dura. This painless lesion can occur anywhere along the spinal canal but usually is found in the sacral or lumbar region. If left untreated it can cause tethered cord syndrome." "" + "SPOAN syndrome" "A rare, complex type of hereditary spastic paraplegia characterized by early-onset progressive spastic paraplegia presenting in infancy, associated with optic atrophy, fixation nystagmus, polyneuropathy occurring in late childhood/early adolescence leading to severe motor disability and progressive joint contractures and scoliosis. SPOAN syndrome is caused by mutations in the KLC2 gene (11q13.1), encoding kinesin light chain 2." "" + "spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder" "" + "omphalocele, diaphragmatic hernia, and radial ray defects" "" + "nanophthalmos 2" "Any nanophthalmia in which the cause of the disease is a mutation in the MFRP gene." "" + "isolated microphthalmia 5" "Any isolated microphthalmia in which the cause of the disease is a mutation in the MFRP gene." "" + "prostate cancer, hereditary, 6" "" + "mitochondrial DNA depletion syndrome, myopathic form" "Myopathic mitochondrial DNA (mtDNA) depletion syndrome is one of the main forms of mtDNA depletion syndrome that displays a broad phenotypic spectrum but that is most often characterized by hypotonia, proximal muscle weakness, facial and bulbar weakness and failure to thrive." "" + "parietal foramina 3" "" + "migraine with or without aura, susceptibility to, 8" "" + "photoparoxysmal response 2" "" + "photoparoxysmal response 3" "" + "cardiomyopathy, familial restrictive, 2" "" + "familial scaphocephaly syndrome, McGillivray type" "Familial scaphocephaly syndrome, McGillivray type is a rare newly described craniosynostosis syndrome characterized by scaphocephaly, macrocephaly, severe maxillary retrusion, and mild intellectual disability." "" + "Joubert syndrome with renal defect" "Joubert syndrome with renal defect is a rare subtype of Joubert syndrome and related disorders (JSRD) characterized by the neurological features of JS associated with renal disease, in the absence of retinopathy." "" + "parietal foramina 2" "Any parietal foramina in which the cause of the disease is a mutation in the ALX4 gene." "" + "fibrosis of extraocular muscles, congenital, with synergistic divergence" "" + "spondylomegaepiphyseal dysplasia with upper limb mesomelia, punctate calcifications, and deafness" "" + "short QT syndrome type 1" "Any short QT syndrome in which the cause of the disease is a mutation in the KCNH2 gene." "" + "short QT syndrome type 2" "Any short QT syndrome in which the cause of the disease is a mutation in the KCNQ1 gene." "" + "short QT syndrome type 3" "Any short QT syndrome in which the cause of the disease is a mutation in the KCNJ2 gene." "" + "distal 10q deletion syndrome" "Distal monosomy 10q is a chromosomal anomaly involving terminal deletion of the long arm of chromosome 10 and is characterized by facial dysmorphism, pre- and postnatal growth retardation, cardiac and genital anomalies, and developmental delay." "" + "partial monosomy of the long arm of chromosome 10" "" + "Majeed syndrome" "Majeed syndrome is a rare genetic multisystemic disorder characterized by the triad of chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia, and variable transient inflammatory dermatosis." "" + "constitutional dyserythropoietic anemia" "" + "visceral neuropathy, familial, 3, autosomal dominant" "" + "leukemia, chronic lymphocytic, susceptibility to, 1" "" + "major affective disorder 3" "" + "migraine, familial hemiplegic, 3" "Any familial or sporadic hemiplegic migraine in which the cause of the disease is a mutation in the SCN1A gene." "" + "Alzheimer disease 10" "An Alzheimer's disease that is characterized by an associated with variation in the region 7q36." "" + "holoprosencephaly 5" "Holoprosencephaly associated with mutations in the ZIC2 gene." "" + "semilobar holoprosencephaly" "Semilobar holoprosencephaly is one of the classical forms of holoprosencephaly (HPE) in which the left and right frontal and parietal lobes are fused and the interhemispheric fissure is only present posteriorly." "" + "septopreoptic holoprosencephaly" "Septopreoptic holoprosencephaly (HPE) is a very rare subtype of lobar HPE characterized by midline fusion limited to the septal and/or preoptic regions of the telencephalon without a significant frontal neocortical fusion." "" + "lobar holoprosencephaly" "Lobar holoprosencephaly is the mildest classical form of holoprosencephaly (HPE) characterized by separation of the right and left cerebral hemispheres and lateral ventricules with some continuity across the frontal neocortex, especially rostrally and ventrally." "" + "alobar holoprosencephaly" "Alobar holoprosencephaly is the most severe classical form of holoprosencephaly (HPE) characterized by a single brain ventricle and no interhemispheric fissure." "" + "midline interhemispheric variant of holoprosencephaly" "Midline interhemispheric variant of holoprosencephaly (MIH) or syntelencephaly is a form of holoprosencephaly (HPE) characterized by non-separation of the posterior frontal and parietal lobes, normally-formed callosal genu and splenium, absence of the callosal body, normally-separated hypothalamus and lentiform nucleus, and frequent heterotopic gray matter." "" + "lethal acantholytic epidermolysis bullosa" "Lethal acantholytic epidermolysis bullosa is a suprabasal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized oozing erosions, usually in the absence of blisters." "" + "Frias syndrome" "A rare partial deletion of the long arm of chromosome 14 characterized by ocular anomalies (anopthalmia/microphthalmia, ptosis, hypertelorism, exophthalmos), pituitary anomalies (pituitary hypoplasia/aplasia with growth hormone deficiency and growth retardation) and hand/foot anomalies (polydactyly, short digits, pes cavus). Other clinical features may include muscular hypotonia, psychomotor development delay/intellectual disability, dysmorphic signs (facial asymmetry, microretrognathia, high-arched palate, ear anomalies), congenital genitourinary malformations, hearing impairment. Smaller 14q22 deletions may have variable expression." "" + "partial deletion of the long arm of chromosome 14" "Chromosome 14q deletion is a chromosome abnormality that occurs when there is a missing (deleted) copy of genetic material on the long arm (q) of chromosome 14." "" + "Nguyen syndrome" "" + "autosomal recessive nonsyndromic hearing loss 42" "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the ILDR1 gene." "" + "autosomal recessive nonsyndromic hearing loss 46" "An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 18p11.32-p11.31." "" + "trichilemmal cyst" "" + "short stature and Facioauriculothoracic malformations" "" + "talo-patello-scaphoid osteolysis" "Talo-patello-scaphoid osteolysis is an extremely rare form of primary osteolysis, described in two sisters to date, characterized by bilateral osteolysis of the tali, scaphoids, and patellae (accompanied by periarticular swelling and pain) and short fourth metacarpals (brachydactyly type E), in the absence of renal disease. Autosomal recessive inheritance has been suggested." "" + "migraine with aura, susceptibility to, 9" "" + "short stature-delayed bone age due to thyroid hormone metabolism deficiency" "Short stature-delayed bone age due to thyroid hormone metabolism deficiency is a rare, genetic congenital hypothyroidism disorder characterized by mild global developmental delay in childhood, short stature, delayed bone age, and abnormal thyroid and selenium levels in serum (high total and free T4 concentrations, low T3, high reverse T3, normal to high TSH, decreased selenium). Intellectual disability, primary infertility, hypotonia, muscle weakness, and impaired hearing have also been reported." "" + "autosomal recessive nonsyndromic hearing loss 53" "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the COL11A2 gene." "" + "hereditary spastic paraplegia 29" "Autosomal dominant spastic paraplegia type 29 (SPG29) is a complex form of hereditary spastic paraplegia characterized by a spastic paraplegia presenting in adolescence, associated with the additional manifestations of sensorial hearing impairment due to auditory neuropathy and persistent vomiting due to a hiatal or paraesophageal hernia." "" + "obesity due to pro-opiomelanocortin deficiency" "Pro-opiomelanocortin (POMC) deficiency is a form of monogenic obesity resulting in severe early-onset obesity, adrenal insufficiency, red hair and pale skin." "" + "cataract 22 multiple types" "Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CRYBB3 gene." "" + "glaucoma 1, open angle, I" "" + "epilepsy, idiopathic generalized, susceptibility to, 4" "" + "celiac disease, susceptibility to, 4" "Any celiac disease in which the cause of the disease is a mutation in the MYO9B gene." "" + "celiac disease, susceptibility to, 2" "" + "celiac disease, susceptibility to, 3" "Any celiac disease in which the cause of the disease is a mutation in the CTLA4 gene." "" + "7q11.23 microduplication syndrome" "7q11.23 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 7 characterized by a highly variable phenotype that typically manifests with mild-moderate intellectual delay (patients could be in the normal range), speech disorders (particularly of expressive language), and distinctive craniofacial features (brachycephaly, broad forehead, straight eyebows, broad nasal tip, short piltrum, thin upper lip and facial asymmetry). hypotonia, developmental coordination disordes, behavioural problems (such as anxiety, ADHD and oppositional disorders) and various congenital anomalies, such as heart defects, diaphragmatic hernia, renal malformations and cryptorchidism, are frequently presented. Neurological abnormalities (visible on MRI) have been reported." "" + "partial duplication of the long arm of chromosome 7" "Chromosome 7q duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the long arm (q) of chromosome 7. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 7q duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Most cases are not inherited, but people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person." "" + "aortic aneurysm, familial abdominal, 2" "" + "Alzheimer disease 11" "An Alzheimer's disease that is characterized by an associated with variation in the region 9p22.1." "" + "acral peeling skin syndrome" "Acral peeling skin syndrome (PSS) is a form of PSS characterized by superficial peeling of the skin predominantly affecting the dorsa of the hands and feet." "" + "generalized epilepsy with febrile seizures plus, type 4" "" + "hamartoma, Precalcaneal congenital fibrolipomatous" "" + "maturity-onset diabetes of the young type 8" "Any maturity-onset diabetes of the young in which the cause of the disease is a mutation in the CEL gene." "" + "spondylocostal dysostosis 3, autosomal recessive" "Any autosomal recessive spondylocostal dysostosis in which the cause of the disease is a mutation in the LFNG gene." "" + "complement factor H deficiency" "" + "non-immunoglobulin-mediated membranoproliferative glomerulonephritis" "" + "zygodactyly type 1" "" + "vasculitis, lymphocytic, cutaneous small vessel" "" + "erythrocytosis, familial, 3" "Any familial polycythemia in which the cause of the disease is a mutation in the EGLN1 gene." "" + "autosomal dominant secondary polycythemia" "Autosomal dominant form of secondary polycythemia." "" + "platelet-type bleeding disorder 8" "P2Y12 defect is a rare hemorrhagic disorder characterized by mild to moderate bleeding diathesis with easy bruising, mucosal bleedings, and excessive post-operative hemorrhage due to defect of the platelet P2Y12 receptor resulting in selective impairment of platelet responses to adenosine diphosphate." "" + "autosomal recessive nonsyndromic hearing loss 28" "An autosomal recessive disorder caused by mutations in the TRIOBP gene, encoding TRIO and F-actin-binding protein. The condition is characterized by severe to profound sensorineural hearing loss." "" + "obsolete glomerulocystic kidney disease with hyperuricemia and isosthenuria" "" "true" + "glaucoma 1, open angle, G" "Any open-angle glaucoma in which the cause of the disease is a mutation in the WDR36 gene." "" + "leprosy, susceptibility to, 1" "" + "combined immunodeficiency due to partial RAG1 deficiency" "A form of combined T and B cell immunodeficiency (CID) characterized by severe and persistent cytomegalovirus (CMV) infection and autoimmune cytopenia." "" + "congenital nongoitrous hypothryoidism 3" "A congenital hypothyroidism characterized by autosomal dominant inheritance of resistance to thyrotropin that has material basis in variation in the chromosome region 15q25.3-q26.1." "" + "peripheral resistance to thyroid hormones" "Peripheral resistance to thyroid hormones may be a cause of permanent congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth." "" + "systemic lupus erythematosus, susceptibility to, 5" "" + "dilated cardiomyopathy 1P" "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the PLN gene." "" + "retinitis pigmentosa 32" "A retinitis pigmentosa that has material basis in variation in the chromosome region 1p21.3-p13.3." "" + "dilated cardiomyopathy 1Q" "A dilated cardiomyopathy that has material basis in variation in the chromosome region 7q22.3-q31.1." "" + "gallbladder disease 2" "" + "gallbladder disease 3" "" + "retinitis pigmentosa 31" "Any retinitis pigmentosa in which the cause of the disease is a mutation in the TOPORS gene." "" + "aminoacylase 1 deficiency" "Aminoacylase 1 deficiency (ACY1D) is an inborn error of metabolism marked by a characteristic pattern of urinary N-acetyl amino acid excretion and neurologic symptoms." "" + "systemic lupus erythematosus, susceptibility to, 6" "" + "autosomal recessive nonsyndromic hearing loss 51" "An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 11p13-p12." "" + "Noonan syndrome 3" "Any Noonan syndrome in which the cause of the disease is a mutation in the KRAS gene." "" + "obsolete hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features" "" "true" + "ectodermal dysplasia, sensorineural hearing loss, and distinctive facial features" "" + "brachyphalangy, polydactyly, and tibial aplasia/hypoplasia" "" + "autosomal recessive nonsyndromic hearing loss 47" "An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 2p25.1-p24.3." "" + "autosomal recessive nonsyndromic hearing loss 55" "An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 4q12-q13.2." "" + "asperger syndrome, susceptibility to, 4" "" + "fibromatosis, gingival, 3" "" + "asthma-related traits, susceptibility to, 3" "" + "autosomal dominant nonsyndromic hearing loss 53" "An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 14q11.2-q12." "" + "hyperinsulinism due to INSR deficiency" "Hyperinsulinemic hypoglycemia due to INSR deficiency is a very rare autosomal dominant form of familial hyperinsulinism characterized clinically in the single reported family by postprandial hypoglycemia, fasting hyperinsulinemia, and an elevated serum insulin-to-C peptide ratio, and a variable age of onset." "" + "familial hyperinsulinism" "An instance of hyperinsulinism (disease) that is caused by an inherited modification of the individual's genome." "" + "hyperinsulinemic hypoglycemia, familial, 4" "Any hyperinsulinemic hypoglycemia in which the cause of the disease is a mutation in the HADH gene." "" + "primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency" "The primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency is characterised by a specific natural-killer (NK) cell deficiency and susceptibility to viral diseases. It has been described in four children from a large inbred kindred. Three out of the four children reported developed a viral illness. The mode of transmission is most likely autosomal recessive. The causative gene has been localised to within a 12-Mb region on chromosome 8p11.23-q11.21." "" + "panic disorder 3" "" + "metaphyseal chondrodysplasia with cone-shaped epiphyses, normal hair, and normal hands" "" + "trichoscyphodysplasia" "" + "osteosclerosis-ichthyosis-premature ovarian failure syndrome" "This syndrome is characterised by sclerosing bone dysplasia, ichthyosis vulgaris and premature ovarian failure. The bone disorder affects all metaphyseal-diaphyseal regions of the long bones, the skull, and the metacarpals." "" + "myopia 11, autosomal dominant" "" + "myopia 12, autosomal dominant" "" + "arthrogryposis multiplex with deafness, inguinal hernias, and early death" "" + "neuronal ceroid lipofuscinosis 8 northern epilepsy variant" "Progressive epilepsy-intellectual deficit, Finnish type (also known as Northern epilepsy) is a subtype of neuronal ceroid lipofuscinosis (NCL) characterized by seizures, progressive decline of intellectual capacities and variable loss of vision." "" + "2-methylbutyryl-CoA dehydrogenase deficiency" "A rare organic aciduria characterized by impaired isoleucine degradation with increased plasma or whole blood C5 acylcarnitine levels (typically observed in newborn screening) and increased urinary excretion of N-methylbutyrylglycine. The condition is usually clinically asymptomatic, although patients with muscular hypotonia, developmental delay, and seizures (among others) have been reported." "" + "congenital brain dysgenesis due to glutamine synthetase deficiency" "" + "disorder of glutamine metabolism" "" + "multiple synostoses syndrome 2" "Any multiple synostoses syndrome in which the cause of the disease is a mutation in the GDF5 gene." "" + "cataract 18" "Any cataract in which the cause of the disease is a mutation in the FYCO1 gene." "" + "early-onset zonular cataract" "" + "exercise-induced hyperinsulinism" "Exercise-induced hyperinsulinism (EIHI) is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI) characterized by episodes of hypoglycemia induced by exercise due to an inappropriate lactate and pyruvate sensitivity in pancreatic beta-cells." "" + "brachydactyly, coloboma, and anterior segment dysgenesis" "" + "retinal cone dystrophy 3A" "" + "complex cortical dysplasia with other brain malformations 7" "Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the TUBB2B gene." "" + "bilateral frontal polymicrogyria" "Bilateral frontal polymicrogyria is one of the rarest subtypes of polymicrogyria. It is a symmetric and bilateral form (in both brain hemispheres) that only involves the frontal lobes without including the area located behind the Sylvius fissure or the area located behind the Rolando sulcus. Some researchers classify the condition into two different forms: bilateral frontal polymicrogyriaand the bilateral frontoparietal. Signs and symptoms included delayed motor and language milestones; spastic (stiffness) hemiparesis (weakness in one side of the body) or quadriparesis (weakness in all four limbs of the body); and mild to moderate intellectual disability. Seizures mayalsobe present. The frontoparietal form is caused by changes (mutations) in the GPR56 gene but the cause for the frontal form of polymicrogyira is still not known. Treatment is based on the signs and symptoms present in each person." "" + "cortical dysplasia-focal epilepsy syndrome" "An autosomal recessive condition caused by mutation(s) in the CNTNAP2 gene, encoding contactin-associated protein-like 2. It is characterized by normal development until the onset of intractable focal seizures at age 1-9. After the onset of seizures, language regression, intellectual disability, hyperactivity, and impulsive behaviors begin to occur. The majority of children eventually fulfill the criteria for autism spectrum disorder." "" + "Pitt-Hopkins-like syndrome" "Pitt-Hopkins-like syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by severe intellectual disability, lack of speech with normal, or mildly delayed, motor development, episodic breathing abnormalities, early-onset seizures and facial dysmorphism which only includes a wide mouth. Abnormal sleep-wake cycles, autistic behavior and stereotypic movements are commonly associated." "" + "congenital stromal corneal dystrophy" "Congenital stromal corneal dystrophy (CSCD) is an extremely rare form of stromal corneal dystrophy characterized by opaque flaky or feathery clouding of the corneal stroma, and moderate to severe visual loss." "" + "opioid dependence, susceptibility to, 1" "" + "systemic lupus erythematosus, susceptibility to, 7" "" + "systemic lupus erythematosus, susceptibility to, 8" "" + "polyposis syndrome, hereditary mixed, 2" "Any hereditary mixed polyposis syndrome in which the cause of the disease is a mutation in the BMPR1A gene." "" + "hyperparathyroidism 3" "" + "pyridoxal phosphate-responsive seizures" "Pyridoxal phosphate-responsive seizures is a very rare neonatal epileptic encephalopathy disorder characterized clinically by onset of severe seizures within hours of birth that are not responsive to anticonvulsants, but are responsive to treatment with pyridoxal phosphate." "" + "microphthalmia, isolated, with coloboma 3" "Any microphthalmia, isolated, with coloboma in which the cause of the disease is a mutation in the VSX2 gene." "" + "isolated microphthalmia 2" "Any isolated microphthalmia in which the cause of the disease is a mutation in the VSX2 gene." "" + "Finnish upper limb-onset distal myopathy" "Finnish upper limb-onset distal myopathy is a rare, genetic distal myopathy characterized by slowly progressive distal to proximal limb muscle weakness and atrophy, with characteristic early involvement of thenar and hypothenar muscles. Patients present with clumsiness of the hands and stumbling in the fourth to fifth decade of life, and later develop steppage gait and contractures of the hands. Progressive fatty degeneration affects intrinsic muscles of the hands, gluteus medium and both anterior and posterior compartment muscles of the distal lower extremities, with later involvement of forearm muscles, triceps, infraspinatus and the proximal lower limb muscles. Asymmetry of muscle involvement is common." "" + "giant axonal neuropathy 2" "Any giant axonal neuropathy in which the cause of the disease is a mutation in the DCAF8 gene." "" + "complement component 7 deficiency" "Any classic complement early component deficiency in which the cause of the disease is a mutation in the C7 gene." "" + "syndromic microphthalmia type 5" "Syndromic microphthalmia, type 5 is characterized by the association of a range of ocular anomalies (anophthalmia, microphthalmia and retinal abnormalities) with variable developmental delay and central nervous system malformations." "" + "neuronal ceroid lipofuscinosis 10" "A rare condition that affects the nervous system. Signs and symptoms of the condition can develop any time from birth to adulthood and may include progressive dementia, seizures, lack of muscle coordination, and vision loss. CLN10-NCL is caused by changes (mutations) in the CTSD gene and is inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms." "" + "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4" "Any progressive external ophthalmoplegia with mitochondrial DNA deletions in which the cause of the disease is a mutation in the POLG2 gene." "" + "Devriendt syndrome" "" + "heart-hand syndrome, Slovenian type" "A rare autosomal dominant form of heart-hand syndrome, first described in members of a Slovenian family, that is characterized by adult onset, progressive cardiac conduction disease, tachyarrhythmias that can lead to sudden death, dilated cardiomyopathy and brachydactyly, with the hands less severely affected than the feet. Muscle weakness and/or myopathic electromyographic findings have been observed in some cases." "" + "autosomal recessive nonsyndromic hearing loss 62" "An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 12p13.2-p11.23." "" + "age related macular degeneration 7" "Any age-related macular degeneration in which the cause of the disease is a mutation in the HTRA1 gene." "" + "autosomal recessive nonsyndromic hearing loss 49" "An autosomal recessive disorder caused by mutations in the MARVELD2 gene, encoding MARVEL domain-containing protein 2. The condition is characterized by profound prelingual deafness." "" + "autosomal recessive nonsyndromic hearing loss 44" "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the ADCY1 gene." "" + "type 1 diabetes mellitus 19" "A type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 2q24.3." "" + "MORM syndrome" "MORM syndrome is characterised by the association of intellectual deficit, truncal obesity, retinal dystrophy and micropenis. It has been described in 14 individuals from a consanguineous family. It is transmitted in an autosomal recessive manner. The causative locus has been mapped to chromosome region 9q34." "" + "obsolete heat-shock RNA 1" "" "true" + "corneal dystrophy, fuchs endothelial, 2" "" + "immunodeficiency 25" "Any severe combined immunodeficiency in which the cause of the disease is a mutation in the CD247 gene." "" + "T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta" "" + "Loeys-Dietz syndrome 2" "A rare autosomal dominant inherited disorder of connective tissue caused by mutations in either the TGFBR1 or TGFBR2 gene. Like Loeys-Dietz syndrome type I the disease is characterized by enlargement of the aorta and other arteries, and arterial tortuosity, but skeletal signs are typically less severe or absent in type 2. Skin abnormalities, such as velvety skin are often present in type 2." "" + "kyphoscoliosis 1" "" + "Aicardi-Goutieres syndrome 2" "Any Aicardi-Goutieres syndrome in which the cause of the disease is a mutation in the RNASEH2B gene." "" + "cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2" "Any dysequilibrium syndrome in which the cause of the disease is a mutation in the WDR81 gene." "" + "diaphragmatic hernia 3" "Any congenital diaphragmatic hernia in which the cause of the disease is a mutation in the ZFPM2 gene." "" + "Joubert syndrome 5" "Any Joubert syndrome in which the cause of the disease is a mutation in the CEP290 gene." "" + "CEP290-related ciliopathy" "A ciliopathy caused by biallelic variants in the CEP290 gene." "" + "Senior-Loken syndrome 6" "Any Senior-Loken syndrome in which the cause of the disease is a mutation in the CEP290 gene." "" + "arrhythmogenic right ventricular dysplasia 10" "Any arrhythmogenic right ventricular cardiomyopathy in which the cause of the disease is a mutation in the DSG2 gene." "" + "3-methylglutaconic aciduria type 5" "A syndrome characterized by severe early onset (before the age of three years) dilated cardiomyopathy (DCM) with conduction defects (long QT syndrome), non-progressive cerebellar ataxia, testicular dysgenesis, and 3-methylglutaconic aciduria." "" + "neonatal diabetes mellitus with congenital hypothyroidism" "A rare genetic disease characterized by intrauterine growth retardation, permanent neonatal diabetes mellitus, and congenital hypothyroidism. Additional manifestations include congenital glaucoma, hepatic disease (hepatitis, fibrosis, and cirrhosis), polycystic kidneys, exocrine pancreatic dysfunction, sensorineural hearing impairment, developmental delay, and mild facial dysmorphism (such as flat nasal bridge, epicanthal folds, long philtrum, and low-set ears), among others" "" + "cataract 21 multiple types" "Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the MAF gene." "" + "pontocerebellar hypoplasia type 5" "Pontocerebellar hypoplasia type 5 (PCH5) is a very rare severe form of PCH with prenatal onset and characterized by fetal onset of clonus or seizures-like activity persisting in infancy and microencephaly leading to early postnatal death. There is significant overlap both in phenotype and in genotype between pontocerebellar hypoplasia types 4 and 5." "" + "Alagille syndrome due to a NOTCH2 point mutation" "" + "migraine with or without aura, susceptibility to, 10" "" + "migraine with or without aura, susceptibility to, 11" "" + "autosomal recessive nonsyndromic hearing loss 66" "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the DCDC2 gene." "" + "aneurysm, intracranial berry, 4" "" + "neurodegeneration with brain iron accumulation 2B" "" + "PLA2G6-associated neurodegeneration" "Any neurodegeneration with brain iron accumulation in which the cause of the disease is a mutation in the PLA2G6 gene." "" + "autosomal recessive nonsyndromic hearing loss 59" "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the PJVK gene." "" + "seborrhea-like dermatitis with psoriasiform elements" "" + "synpolydactyly type 3" "" + "hereditary spastic paraplegia 33" "Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the ZFYVE27 gene." "" + "spinocerebellar ataxia type 23" "Spinocerebellar ataxia type 23 (SCA23) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by gait ataxia, dysarthria, slowed saccades, ocular dysmetria, Babinski sign and hyperreflexia." "" + "spinocerebellar ataxia type 28" "Spinocerebellar ataxia type 28 (SCA28) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by juvenile onset, slowly progressive cerebellar ataxia due to Purkinje cell degeneration." "" + "esophagitis, eosinophilic, 1" "" + "autosomal recessive nonsyndromic hearing loss 65" "An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 20q13.2-q13.3." "" + "hereditary spastic paraplegia 31" "A rare type of hereditary spastic paraplegia usually characterized by a pure phenotype of proximal weakness of the lower extremities with spastic gait and brisk reflexes, with a bimodal age of onset of either childhood or adulthood (>30 years). In some cases, it can present as a complex phenotype with additional associated manifestations including peripheral neuropathy, bulbar palsy (with dysarthria and dysphagia), distal amyotrophy, and impaired distal vibration sense." "" + "alcohol sensitivity, acute" "Alcohol intolerance is characterized by immediate unpleasant reactions after drinking alcohol. The most common signs and symptoms of alcohol intolerance are stuffy nose and skin flushing. Alcohol intolerance is caused by a genetic condition in which the body is unable to break down alcohol efficiently, usually found in Asians. These individuals accumulate acetaldehyde, the primary metabolite of ethanol, because of a genetic polymorphism of aldehyde dehydrogenase (ALDH) that metabolizes acetaldehyde to nontoxic acetate. The only way to prevent alcohol intolerance reactions is to avoid alcohol. Alcohol intolerance isn't an allergy. However, in some cases, what seems to be alcohol intolerance may be a reaction to something in an alcoholic beverage, such as chemicals, grains or preservatives. Combining alcohol with certain medications also can cause reactions. In rare instances, an unpleasant reaction to alcohol can be a sign of a serious underlying health problem that requires diagnosis and treatment." "" + "Kleefstra syndrome" "A genetic disorder characterized by intellectual disability, childhood hypotonia, severe expressive speech delay and a distinctive facial appearance with a spectrum of additional clinical features." "" + "congenital primary aphakia" "Congenital primary aphakia (CPA) is characterised by an absence of the lens. The prevalence is unknown. CPA can be associated with variable secondary ocular defects (including aplasia/dysplasia of the anterior segment of the eye, microphthalmia, and in some cases absence of the iris, retinal dysplasia, or sclerocornea). CPA results from early developmental arrest, around the 4th-5th week of embryogenesis, which prevents the formation of any lens structure. Mutations in the FOXE3 gene were identified in three affected siblings born to consanguineous parents." "" + "pyloric stenosis, infantile hypertrophic, 2" "" + "hypertension, essential, susceptibility to, 5" "" + "hypertension, essential, susceptibility to, 6" "" + "autosomal recessive nonsyndromic hearing loss 67" "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the LHFPL5 gene." "" + "obsolete bulimia nervosa, susceptibility to, 2" "" "true" + "autosomal recessive frontotemporal pachygyria" "" + "retinitis pigmentosa 35" "Any retinitis pigmentosa in which the cause of the disease is a mutation in the SEMA4A gene." "" + "cone-rod dystrophy 10" "Any cone-rod dystrophy in which the cause of the disease is a mutation in the SEMA4A gene." "" + "hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency" "The combination of a propensity for venous thrombosis and seizures has been reported in two unrelated kindreds. Transmission is autosomal recessive. It results from a point mutation of PIGM, which reduces transcription of PIGM and blocks mannosylation of glycosylphosphatidylinositol (GPI), leading to partial but severe deficiency of GPI." "" + "Parkinson disease 13, autosomal dominant, susceptibility to" "Any young-onset Parkinson disease in which the cause of the disease is a mutation in the HTRA2 gene." "" + "cold-induced sweating syndrome 2" "Any cold-induced sweating syndrome in which the cause of the disease is a mutation in the CLCF1 gene." "" + "rhizomelic dysplasia, scoliosis, and retinitis pigmentosa" "" + "myopia 14" "" + "prostate cancer, hereditary, 7" "" + "Aicardi-Goutieres syndrome 3" "Any Aicardi-Goutieres syndrome in which the cause of the disease is a mutation in the RNASEH2C gene." "" + "Aicardi-Goutieres syndrome 4" "Any Aicardi-Goutieres syndrome in which the cause of the disease is a mutation in the RNASEH2A gene." "" + "right pulmonary artery, anomalous origin of, familial" "" + "autosomal dominant nocturnal frontal lobe epilepsy 4" "Any autosomal dominant nocturnal frontal lobe epilepsy in which the cause of the disease is a mutation in the CHRNA2 gene." "" + "cone dystrophy with supernormal rod response" "Cone dystrophy with supernormal rod response (CDSRR) is an inherited retinopathy, with an onset in the first or second decade of life, characterized by poor visual acuity (due to central scotoma), photophobia, severe dyschromatopsia, and occasionally, nystagmus. Night blindness usually develops later in the course of the disease, but it can also be apparent from childhood. A hallmark of CDSRR is the decreased and delayed dark-adapted response to dim flashes in electroretinographic recordings, which contrasts with the supernormal b-wave response at the highest levels of stimulation." "" + "hereditary spastic paraplegia 30" "Autosomal spastic paraplegia type 30 (SPG30) is a form of hereditary spastic paraplegia characterized by either a pure spastic paraplegia phenotype, usually presenting in the first or second decade of life, with spastic lower extremities, usteady spastic gait, hyperreflexia and extensor plantar responses, or as a complicated phenotype with the additional manifestations of distal wasting, saccadic ocular movements, mild cerebellar ataxia and mild, distal, axonal neuropathy." "" + "retinitis pigmentosa 33" "Any retinitis pigmentosa in which the cause of the disease is a mutation in the SNRNP200 gene." "" + "orofacial cleft 9" "" + "congenital malabsorptive diarrhea 4" "Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells is an exceedingly rare genetic gastroenterological disease characterized by severe malabsorptive diarrhea and a lack of intestinal enteroendocrine cells. Within the first weeks of life, patients present with vomiting, dehydration, and severe diarrhea unresponsive to various nutrients and formulas, and require home parenteral nutrition. Diabetes mellitus has also been reported." "" + "diabetes mellitus, transient neonatal, 2" "Any transient neonatal diabetes mellitus in which the cause of the disease is a mutation in the ABCC8 gene." "" + "mevalonic aciduria" "Mevalonic aciduria (MVA) is a rare, very severe form of mevalonate kinase deficiency (MKD) characterized by dysmorphic features, failure to thrive, psychomotor delay, ocular involvement, hypotonia, progressive ataxia, myopathy, and recurrent inflammatory episodes." "" + "peroxisomal disease" "A group of congenital disorders of lipid metabolism, caused by loss of the normal peroxisomes. Signs and symptoms include developmental delays, mental retardation, facial abnormalities, hepatomegaly, and hypotonia." "" + "West Nile virus, susceptibility to" "" + "cone-rod dystrophy 11" "Any cone-rod dystrophy in which the cause of the disease is a mutation in the RAX2 gene." "" + "prosopagnosia, hereditary" "An instance of prosopagnosia (disease) that is caused by an inherited modification of the individual's genome." "" + "autosomal recessive nonsyndromic hearing loss 68" "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the S1PR2 gene." "" + "preauricular tag, isolated, autosomal dominant, 1" "" + "alopecia-intellectual disability syndrome 2" "" + "hepatitis B virus, susceptibility to" "" + "cataract 23" "Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CRYBA4 gene." "" + "cone-rod synaptic disorder, congenital nonprogressive" "" + "macroglobulinemia, Waldenstrom, 2" "" + "Waldenstrom macroglobulinemia" "" + "restless legs syndrome, susceptibility to, 3" "" + "restless legs syndrome, susceptibility to, 4" "" + "testicular microlithiasis" "" + "spondyloepimetaphyseal dysplasia, Genevieve type" "Spondyloepimetaphyseal dysplasia, Geneviève type is a rare primary bone dysplasia characterized by severe developmental delay and skeletal dysplasia (including short stature, premature carpal ossification, platyspondyly, longitudinal metaphyseal striations, and small epiphyses), as well as moderate to severe intellectual disability and facial dysmorphism, including prominent forehead, mild synophrys, depressed nasal bridge, prominent bulbous nasal tip and full lips." "" + "Koolen-de Vries syndrome" "A chromosomal anomaly characterized by developmental delay, childhood hypotonia, facial dysmorphism, and a friendly/amiable behavior." "" + "congenital stationary night blindness autosomal dominant 3" "A congenital stationary night blindness characterized by autosomal dominant inheritance that has material basis in heterozygous mutation in the GNAT1 gene on chromosome 3p21." "" + "congenital stationary night blindness autosomal dominant 1" "Any congenital stationary night blindness in which the cause of the disease is a mutation in the RHO gene." "" + "Buruli ulcer, susceptibility to" "" + "chilblain lupus 1" "Any chilblain lupus in which the cause of the disease is a mutation in the TREX1 gene." "" + "chilblain lupus" "A rare, chronic cutaneous lupus erythematosus disease characterized by red or violaceous, initially pruritic (evolving to painful) papules and plaques located on acral areas (especially dorsal aspects of fingers and toes, while the nose and ear involvement is uncommon), exacerbated by cold and damp conditions, with fissuring and ulceration occasionally observed. Coexistence of discoid lupus erythematosus lesions elsewhere on the body and occasional progression to systemic lupus erythematosus may be associated. Histological examination and direct immunofluorescence studies reveal nonspecific inflammatory lupus erythematosus changes while results of cryoglobulin and cold agglutinin studies are negative." "" + "familial chilblain lupus" "An instance of Chilblain lupus that is caused by an inherited modification of the individual's genome." "" + "mutagen sensitivity" "True" + "normophosphatemic familial tumoral calcinosis" "" + "familial tumoral calcinosis" "Tumoral calcinosis is a phosphocalcic metabolism anomaly, particularly among younger age groups and characterized by the presence of calcified masses in the juxta-articular regions (hip, elbow, ankle and scapula) without joint involvement. Histologically, lesions dysplay collagen necrobiosis, followed by cyst formation and a foreign-body response with calcification Two forms of tumoral calcinosis have been described: normocalcemic tumoral calcinosis and familial tumoral calcinosis." "" + "thiopurine S-methyltransferase deficiency" "An acquired metabolic disease that is has its basis in the disruption of thiopurine S-methyltransferase activity." "" + "camptodactyly-tall stature-scoliosis-hearing loss syndrome" "Camptodactyly-tall stature-scoliosis-hearing loss syndrome is characterised by camptodactyly, tall stature, scoliosis, and hearing loss (CATSHL). It has been described in around 30 individuals from seven generations of the same family. The syndrome is caused by a missense mutation in the FGFR3 gene, leading to a partial loss of function of the encoded protein, which is a negative regulator of bone growth." "" + "pigmented nodular adrenocortical disease, primary, 2" "Any primary pigmented nodular adrenocortical disease in which the cause of the disease is a mutation in the PDE11A gene." "" + "primary pigmented nodular adrenocortical disease" "A form of bilateral adrenocortical hyperplasia that is often associated with adrenocorticotrophin hormone (ACTH) independent Cushing syndrome and is characterized by small to normal sized adrenal glands containing multiple small cortical pigmented nodules (less than 1 cm in diameter)." "" + "arrhythmogenic right ventricular dysplasia 11" "Any familial isolated arrhythmogenic right ventricular dysplasia in which the cause of the disease is a mutation in the DSC2 gene." "" + "retinal cone dystrophy 4" "Any cone dystrophy in which the cause of the disease is a mutation in the CACNA2D4 gene." "" + "agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome" "Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome combines agammaglobulinemia with marked microcephaly, significant developmental delay, craniosynostosis, a severe dermatitis, cleft palate, narrowing of the choanae, and blepharophimosis. It has been described in three siblings, two males and one female, born to nonconsanguineous parents. Transmission is probably autosomal recessive. It has been suggested that this syndrome represents a new form of agammaglobulinemia due to a defect in early B-cell maturation." "" + "pigmented nodular adrenocortical disease, primary, 1" "Any primary pigmented nodular adrenocortical disease in which the cause of the disease is a mutation in the PRKAR1A gene." "" + "combined oxidative phosphorylation defect type 2" "Combined oxidative phosphorylation defect type 2 is a rare mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by severe intrauterine growth retardation, neonatal limb edema and redundant skin on the neck (hydrops), developmental brain defects (corpus callosum agenesis, ventriculomegaly), brachydactyly, dysmorphic facial features with low set ears, severe intractable neonatal lactic acidosis with lethargy, hypotonia, absent spontaneous movements and fatal outcome. Markedly decreased activity of complex I, II + III and IV in muscle and liver have been determined." "" + "preterm premature rupture of the membranes" "A female reproductive system disease characterized by rupture of chorioamniotic membranes before 37 weeks of gestation." "" + "fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3" "Combined oxidative phosphorylation deficiency type 3 is an extremely rare clinically heterogenous disorder described in about 5 patients to date. Clinical signs included hypotonia, lactic acidosis, and hepatic insufficiency, with progressive encephalomyopathy or hypertrophic cardiomyopathy." "" + "maturity-onset diabetes of the young type 7" "Any maturity-onset diabetes of the young in which the cause of the disease is a mutation in the KLF11 gene." "" + "hypomyelinating leukodystrophy 5" "Hypomyelination-congenital cataract is characterized by the onset of cataract either at birth or in the first two months of life, delayed psychomotor development by the end of the first year of life and moderate intellectual deficit." "" + "glaucoma 1, open angle, M" "" + "mandibulofacial dysostosis-microcephaly syndrome" "Mandibulofacial dysostosis-microcephaly syndrome is a rare genetic multiple malformation disorder characterized by malar and mandibular hypoplasia, microcephaly, ear malformations with associated conductive hearing loss, distinctive facial dysmorphism, developmental delay, and intellectual disability." "" + "atypical Gaucher disease due to saposin C deficiency" "Any Gaucher disease in which the cause of the disease is a mutation in the PSAP gene." "" + "congenital myasthenic syndrome 12" "Any congenital myasthenic syndromes with glycosylation defect in which the cause of the disease is a mutation in the GFPT1 gene." "" + "congenital myasthenic syndromes with glycosylation defect" "" + "Rubinstein-Taybi syndrome due to 16p13.3 microdeletion" "Chromosome 16p13.3deletion syndrome is a chromosome abnormality that can affect many parts of the body. People with this condition are missing a small piece (deletion) of chromosome 16 at a location designated p13.3. Although once thought to be a severe form of Rubinstein-Taybi syndrome, it is now emerging as a unique syndrome. Signs and symptoms may include failure to thrive, hypotonia (reduced muscle tone), short stature, microcephaly (unusually small head), characteristic facial features, mild to moderate intellectual disability, organ anomalies (i.e. heart and/or kidney problems), and vulnerability to infections. Chromosome testing of both parents can provide information about whether the deletion was inherited. In most cases, parents do not have any chromosome abnormalities. However, sometimes one parent has a balanced translocation where a piece of a chromosome has broken off and attached to another one with no gain or loss of genetic material. The balanced translocation normally does not cause signs or symptoms, but it increases the risk for having a child with a chromosome abnormality like a deletion. Treatment is based on the signs and symptoms present in each person.To learn more about chromosome abnormalities in general, view our GARD fact sheet on Chromosome Disorders." "" + "chromosome 16p13.3 deletion syndrome" "" + "insulin-resistance syndrome type A" "Type A insulin-resistance syndrome belongs to the group of extreme insulin-resistance syndromes (which includes leprechaunism, the lipodystrophies, Rabson-Mendenhall syndrome and type B insulin resistance syndrome) and is characterized by the triad of hyperinsulinemia, acanthosis nigricans (skin lesions associated with insulin resistance), and signs of hyperandrogenism in females without lipodystrophy and who are not overweight." "" + "herpes simplex encephalitis" "Herpes simplex virus encephalitis (HSE) is caused by the infection of the central nervous system by Herpes simplex virus (HSV) that could have a devastating clinical course and a potentially fatal outcome particularly with delay or lack of treatment. HSV often involves the frontal and temporal lobes, usually asymmetrically, resulting in personality changes, cognitive impairment, aphasia, seizures, and focal weakness." "" + "infectious disease with epilepsy" "True" + "obsolete infectious disease with dementia" "" "true" + "diabetes mellitus, transient neonatal, 3" "Any transient neonatal diabetes mellitus in which the cause of the disease is a mutation in the KCNJ11 gene." "" + "retinitis pigmentosa 36" "Any retinitis pigmentosa in which the cause of the disease is a mutation in the PRCD gene." "" + "corticosterone methyloxidase type 2 deficiency" "" + "Leber congenital amaurosis 12" "Any Leber congenital amaurosis in which the cause of the disease is a mutation in the RD3 gene." "" + "hereditary angioedema type 3" "Hereditary angioedema type 3 (HAE 3) is a form of hereditary angioedema characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway." "" + "hereditary angioedema" "Hereditary angioedema (HAE) is a genetic disease characterized by the occurrence of transitory and recurrent subcutaneous and/or submucosal edemas resulting in swelling and/or abdominal pain." "" + "hereditary angioedema with normal C1Inh" "" + "cataract 11 multiple types" "Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the PITX3 gene." "" + "hypogonadotropic hypogonadism 4 with or without anosmia" "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the PROK2 gene." "" + "Diamond-Blackfan anemia 3" "Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS24 gene." "" + "palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome" "Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome is characterised by sex reversal in males with a 46, XX (SRY-negative) karyotype, palmoplantar hyperkeratosis and a predisposition to squamous cell carcinoma. To date, five cases (four of whom were brothers) have been described. The aetiology is unknown." "" + "xeroderma pigmentosum group B" "Any xeroderma pigmentosum in which the cause of the disease is a mutation in the ERCC3 gene." "" + "hereditary hemorrhagic telangiectasia type 4" "" + "autism, susceptibility to, 7" "" + "combined oxidative phosphorylation defect type 4" "Combined oxidative phosphorylation defect type 4 is a rare mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by a neonatal onset of severe metabolic acidosis and respiratory distress, persistent lactic acidosis with episodes of metabolic crises, developmental regression, microcephaly, abnormal gaze fixation and pursuit, axial hypotonia with limb spasticity and reduced spontaneous movements. Neuroimaging studies reveal polymicrogyria, white matter abnormalities and multiple cystic brain lesions, including basal ganglia, and cerebral atrophy. Decreased activity of complex I and IV have been determined in muscle biopsy." "" + "holoprosencephaly, recurrent infections, and monocytosis" "" + "osteogenesis imperfecta type 7" "Any osteogenesis imperfecta in which the cause of the disease is a mutation in the CRTAP gene." "" + "split-hand/foot malformation with long bone deficiency 2" "" + "nemaline myopathy 7" "Any nemaline myopathy in which the cause of the disease is a mutation in the CFL2 gene." "" + "Joubert syndrome 6" "Any Joubert syndrome in which the cause of the disease is a mutation in the TMEM67 gene." "" + "age related macular degeneration 4" "Any age-related macular degeneration in which the cause of the disease is a mutation in the CFH gene." "" + "deafness with labyrinthine aplasia, microtia, and microdontia" "Deafness with labyrinthine aplasia, microtia, and microdontia (LAMM) is a genetic transmission deafness syndrome." "" + "psoriasis 8, susceptibility to" "" + "optic atrophy 5" "" + "brachydactyly-syndactyly syndrome" "Brachydactyly-syndactyly, Zhao type is a recently described syndrome associating a brachydactyly type A4 (short middle phalanges of the 2nd and 5th fingers and absence of middle phalanges of the 2nd to 5th toes) and a syndactyly of the 2nd and 3rd toes. Metacarpals and metatarsals anomalies are common." "" + "neutral lipid storage myopathy" "" + "nephrotic syndrome, type 3" "Any nephrotic syndrome in which the cause of the disease is a mutation in the PLCE1 gene." "" + "Noonan syndrome 4" "Any Noonan syndrome in which the cause of the disease is a mutation in the SOS1 gene." "" + "Kostmann syndrome" "Kostmann syndrome is a rare, severe, congenital neutropenia disorder characterized by a lack of mature neutrophils (absolute neutrophil counts less than 500 cells/mm3) associated with frequent, recurrent bacterial infections (e.g. otitis media, pneumonia, sinusitis, urinary tract infections, abscesses of skin and/or liver) and increased promyelocytes in the bone marrow. Periodontal disease, as well as neurological symptoms, such as cognitive impairment, severe neurodegeneration and epilepsy, have been reported in some patients." "" + "autosomal recessive severe congenital neutropenia" "" + "autosomal recessive ataxia, Beauce type" "A rare disorder characterised by a slowly progressive pure cerebellar ataxia associated with dysarthria. It has been described in 53 individuals from 26 families of Canadian origin. The mode of transmission is autosomal recessive. Positional cloning has led to the identification of several gene mutations." "" + "iris pattern" "" + "alopecia areata 2" "" + "multiple endocrine neoplasia type 4" "Multiple endocrine neoplasia type 4 (MEN4) is a very rare form of MEN, an inherited cancer syndrome, characterized by parathyroid and anterior pituitary tumors, possibly associated with adrenal, renal, and reproductive organ tumors." "" + "cerebrooculofacioskeletal syndrome 2" "Any COFS syndrome in which the cause of the disease is a mutation in the ERCC2 gene." "" + "cerebrooculofacioskeletal syndrome 4" "Any COFS syndrome in which the cause of the disease is a mutation in the ERCC1 gene." "" + "Cornelia de Lange syndrome 3" "Any Cornelia de Lange syndrome in which the cause of the disease is a mutation in the SMC3 gene." "" + "DK1-CDG" "DK1-CDG is characterised by muscular hypotonia and ichthyosis. It has been described in four children from two consanguineous families. All the affected children died during early infancy, two from dilated cardiomyopathy. The syndrome is caused by a deficiency in dolichol kinase 1 (DK1), an enzyme involved in the de novo biosynthesis of dolichol phosphate. The mutations identified in the DK1 gene led to a 96 to 98% reduction in DK activity." "" + "congenital disorder of glycosylation with dilated cardiomyopathy" "True" + "cardiomyopathy-hypotonia-lactic acidosis syndrome" "Cardiomyopathy-hypotonia-lactic acidosis syndrome is characterised by hypertrophic cardiomyopathy, muscular hypotonia and the presence of lactic acidosis at birth. It has been described in two sisters (both of whom died within the first year of life) from a nonconsanguineous Turkish family. The syndrome is caused by a homozygous point mutation in the exon 3A of the SLC25A3 gene encoding a mitochondrial membrane transporter." "" + "epiphyseal dysplasia, Baumann type" "" + "primary immunodeficiency syndrome due to p14 deficiency" "Primary immunodeficiency syndrome due to p14 deficiency is characterised by short stature, hypopigmentation, coarse facies and frequent bronchopulmonary Streptococcus pneumoniae infections." "" + "obsolete invasive pneumococcal disease, recurrent isolated, 1" "" "true" + "congenital anomalies of kidney and urinary tract 1" "Any congenital anomaly of kidney and urinary tract in which the cause of the disease is a mutation in the DSTYK gene." "" + "congenital anomaly of kidney and urinary tract" "A urinary system disease characterized by structural malformations in the kidney and/or urinary tract containing vesicoureteral reflux." "" + "holoprosencephaly 7" "Any holoprosencephaly in which the cause of the disease is a mutation in the PTCH1 gene." "" + "holoprosencephaly 9" "Any holoprosencephaly in which the cause of the disease is a mutation in the GLI2 gene." "" + "Polyosteolysis-hyperostosis syndrome" "" + "Fanconi anemia complementation group N" "Any Fanconi anemia in which the cause of the disease is a mutation in the PALB2 gene." "" + "autism, susceptibility to, 11" "" + "autism, susceptibility to, 12" "" + "osteoarthritis susceptibility 4" "" + "mitral valve prolapse, myxomatous 3" "" + "body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency" "Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency is a very rare genetic skin disease characterized by severe skin laxity affecting the trunk and limbs." "" + "primary ciliary dyskinesia 6" "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the NME8 gene." "" + "Sakoda complex" "" + "vesicoureteral reflux 2" "Any vesicoureteral reflux in which the cause of the disease is a mutation in the ROBO2 gene." "" + "Potocki-Lupski syndrome" "17p11.2 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 17, typically characterized by hypotonia, poor feeding, failure to thrive, developmental delay (particularly cognitive and language deficits), mild-moderate intellectual deficit, and neuropsychiatric disorders (behavioural problems, anxiety, attention deficit hyperactivity disorder, autistic spectrum disorder, bipolar disorder). Structural cardiovascular anomalies (dilated aortic root, bicommissural aortic valve, atrial/ventricular and septal defects) and sleep disturbance (obstructive and central sleep apnea) are also frequently associated." "" + "branchiootorenal syndrome 2" "Any branchio-oto-renal syndrome in which the cause of the disease is a mutation in the SIX5 gene." "" + "supranuclear palsy, progressive, 3" "" + "asthma-related traits, susceptibility to, 4" "" + "autism, susceptibility to, 13" "" + "autoimmune pulmonary alveolar proteinosis" "Pulmonary alveolar proteinosis (PAP) is a rare lung disease characterized by the accumulation of a lipoproteinaceous substance in the distal air spaces which positively stains with periodic acid-Schiff (PAS)." "" + "quantitative and/or qualitative congenital phagocyte defect" "" + "osteogenesis imperfecta type 8" "Any osteogenesis imperfecta in which the cause of the disease is a mutation in the P3H1 gene." "" + "interstitial lung disease due to ABCA3 deficiency" "Interstitial lung disease due to ABCA3 deficiency is a rare genetic respiratory disease characterized by a variable clinical outcome ranging from a fatal respiratory distress syndrome in the neonatal period to chronic interstitial lung disease developing in infancy or childhood with chronic cough, rapid breathing, shortness of breath and recurrent pulmonary infections. Clinical manifestations of respiratory failure include grunting, intercostal retractions, nasal flaring, cyanosis, and progressive dyspnea." "" + "tooth agenesis, selective, 5" "" + "systemic lupus erythematosus, susceptibility to, 9" "Any systemic lupus erythematosus in which the cause of the disease is a mutation in the CR2 gene." "" + "coronary heart disease, susceptibility to, 7" "Any coronary artery disease in which the cause of the disease is a mutation in the CD36 gene." "" + "coronary artery disease, autosomal dominant 2" "Any coronary artery disease in which the cause of the disease is a mutation in the LRP6 gene." "" + "hypertension, essential, susceptibility to, 7" "" + "neuronal ceroid lipofuscinosis 7" "Neuronal ceroid lipofuscinosis 7 (CLN7-NCL) is a rare condition that affects the nervous system. Signs and symptoms of the condition generally develop in early childhood (average age 5 years) and may include loss of muscle coordination (ataxia), seizures that do not respond to medications, muscle twitches (myoclonus), visual impairment, and developmental regression (the loss of previously acquired skills). CLN7-NCL is caused by changes (mutations) in the MFSD8 gene and is inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms." "" + "Pitt-Hopkins syndrome" "Pitt-Hopkins syndrome (PHS) is characterized by the association of intellectual deficit, characteristic facial dysmorphism and problems of abnormal and irregular breathing." "" + "XFE progeroid syndrome" "A syndrome characterized by aged bird-like facies, lack of subcutaneous fat, dwarfism, cachexia and microcephaly. Additional features include sun-sensitivity from birth, learning disabilities, hearing loss, and visual impairment. It has material basis in homozygous mutation in the ERCC4 gene on chromosome 16p13." "" + "osteogenesis imperfecta type 5" "Osteogenesis imperfecta type V is a moderate type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures with variable severity. OI type V is characterized by mild to moderate short stature, dislocation of the radial head, mineralized interosseous membranes, hyperplasic callus, white sclera and no dentinogenesis imperfecta (DI)." "" + "osteogenesis imperfecta type 11" "Any osteogenesis imperfecta in which the cause of the disease is a mutation in the FKBP10 gene." "" + "brain-lung-thyroid syndrome" "Brain-lung-thyroid syndrome is a rare disorder characterized by congenital hypothyroidism (CH), infant respiratory distress syndrome (IRDS) and benign hereditary chorea (BHC)." "" + "complement factor I deficiency" "" + "leprosy, susceptibility to, 4" "Any leprosy in which the cause of the disease is a mutation in the LTA gene." "" + "PSAT deficiency" "Phosphoserine aminotransferase deficiency is an extremely rare form of serine deficiency syndrome characterized clinically in the two reported cases to date by acquired microcephaly, psychomotor retardation, intractable seizures and hypertonia." "" + "neurometabolic disorder due to serine deficiency" "Serine-deficiency syndrome is a very rare infantile-onset potentially treatable neurometabolic disorder characterized clinically by microcephaly, neurodevelopmental disorders and seizures. Three serine-deficiency syndromes have been described: 3-phosphoglycerate dehydrogenase (3-PGDH) deficiency, 3-phosphoserine phosphatase (3-PSP) deficiency, and phosphoserine aminotransferase deficiency." "" + "prostate cancer, hereditary, 9" "" + "fibromatosis, gingival, 4" "" + "hypertension, essential, susceptibility to, 8" "" + "autism, susceptibility to, 9" "" + "autism, susceptibility to, 10" "" + "autosomal recessive nonsyndromic hearing loss 24" "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the RDX gene." "" + "episodic kinesigenic dyskinesia 2" "A dystonia characterized by autosomal dominant inheritance of recurrent brief involuntary hyperkinesias triggered by sudden movements that has material basis in variation in the chromosome region 16q13-q22.1." "" + "episodic kinesigenic dyskinesia" "Paroxysmal kinesigenic dyskinesia (PKD) is a form of paroxysmal dyskinesia, characterized by recurrent brief involuntary hyperkinesias, such as choreoathetosis, ballism, athetosis or dystonia, triggered by sudden movements." "" + "isolated microphthalmia 3" "Any isolated microphthalmia in which the cause of the disease is a mutation in the RAX gene." "" + "mycobacterium tuberculosis, susceptibility to, 2" "" + "asthma-related traits, susceptibility to, 5" "Any inherited susceptibility to asthma in which the cause of the disease is a mutation in the IRAK3 gene." "" + "autosomal recessive lower motor neuron disease with childhood onset" "A rare, genetic, neuromuscular disease characterized by proximal muscle weakness with an early involvement of foot and hand muscles following normal motor development in early childhood, a rapidly progressive disease course leading to generalized areflexic tetraplegia with contractures, severe scoliosis, hyperlordosis, and progressive respiratory insufficiency leading to assisted ventilation. Cranial nerve functions are normal and tongue wasting and fasciculations are absent. Milder phenotype with a moderate generalized weakness and slower disease progress was reported." "" + "generalized bulbospinal muscular atrophy" "" + "Alzheimer disease 12" "An Alzheimer's disease that is characterized by an associated with variation in the region 8p12-q22." "" + "inflammatory bowel disease 10" "Any inflammatory bowel disease in which the cause of the disease is a mutation in the ATG16L1 gene." "" + "polyhydramnios, megalencephaly, and symptomatic epilepsy" "" + "intellectual disability, autosomal recessive 12" "" + "intellectual disability, autosomal recessive 5" "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the NSUN2 gene." "" + "intellectual disability, autosomal recessive 6" "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the GRIK2 gene." "" + "intellectual disability, autosomal recessive 7" "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the TUSC3 gene." "" + "obsolete MRT8" "" "true" + "intellectual disability, autosomal recessive 9" "" + "intellectual disability, autosomal recessive 10" "" + "intellectual disability, autosomal recessive 11" "" + "prostate cancer, hereditary, 10" "" + "deafness-infertility syndrome" "Deafness-infertility syndrome (DIS) is a very rare syndrome associating sensorineural deafness and male infertility." "" + "partial deletion of the long arm of chromosome 15" "" + "leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome" "This disease is characterised by progressive cerebellar ataxia with pyramidal and spinal cord dysfunction, associated with distinctive MRI anomalies and increased lactate in the abnormal white matter." "" + "intellectual disability, autosomal recessive 4" "" + "acyl-CoA dehydrogenase 9 deficiency" "A rare disorder leading to a deficiency of complex I of the respiratory chain and is characterized by neurological dysfunction, hepatic failure and cardiomyopathy." "" + "retinitis pigmentosa 37" "Any retinitis pigmentosa in which the cause of the disease is a mutation in the NR2E3 gene." "" + "Meckel syndrome, type 4" "Any Meckel syndrome in which the cause of the disease is a mutation in the CEP290 gene." "" + "epilepsy, idiopathic generalized, susceptibility to, 13" "An inherited susceptibility or predisposition to developing juvenile myclonic epilepsy, idiopathic generalized epilepsy, or childhood absence epilepsy in which the cause of the disease is a mutation in the GABRA1 gene." "" + "coronary heart disease, susceptibility to, 8" "" + "paroxysmal nonkinesigenic dyskinesia 2" "A dystonia characterized by autosomal dominant inheritance of attacks of dystonic or choreathetotic movements precipitated by stress, fatigue, coffee or alcohol intake or menstruation that has material basis in variation in the chromosome region 2q31." "" + "paroxysmal nonkinesigenic dyskinesia" "Paroxysmal non-kinesigenic dyskinesia (PNKD) is a form of paroxysmal dyskinesia, characterized by attacks of dystonic or choreathetotic movements precipitated by stress, fatigue, coffee or alcohol intake or menstruation." "" + "Alzheimer disease 13" "An Alzheimer's disease that is characterized by an associated with variation in the region 1q21." "" + "Alzheimer disease 14" "An Alzheimer's disease that is characterized by an associated with variation in the region 1q25." "" + "obsolete Alzheimer disease 15" "" "true" + "obsolete malaria" "" "true" + "craniofacial dysplasia - osteopenia syndrome" "" + "COG8-CDG" "The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type IIh is characterised by severe psychomotor retardation, failure to thrive and intolerance to wheat and dairy products." "" + "restless legs syndrome, susceptibility to, 6" "" + "COG1-CDG" "COG1-CDG is an extremely rare form of CDG syndrome characterized clinically in the few cases reported to date by variable signs including microcephaly, growth retardation, psychomotor retardation and facial dysmorphism." "" + "microphthalmia-brain atrophy syndrome" "Microphthalmia-brain atrophy (MOBA) syndrome is a rare genetic neurodegenerative disorder characterized by congenital microphthalmia, sunken eyes, blindness, microcephaly, severe intellectual disability, progressive spasticity, and seizures. Psychomotor development is normal in the first 6-8 months of life and thereafter declines rapidly and continuously. Brain MRI reveals progressive and extensive degenerative changes, especially cortex, cerebellum, brainstem, and corpus callosum atrophy, with complete loss of cerebral white matter." "" + "hereditary spastic paraplegia 18" "A rare, complex type of hereditary spastic paraplegia characterized by progressive spastic paraplegia (presenting in early childhood) associated with delayed motor development, severe intellectual disability and joint contractures. A thin corpus callosum is equally noted on brain magnetic resonance imaging. SPG18 is caused by a mutation in the ERLIN2 gene (8p11.2) encoding the protein, Erlin-2." "" + "Charcot-Marie-Tooth disease type 4J" "Charcot-Marie-Tooth disease, type 4J (CMT4J) belongs to the genetically heterogeneous group of CMT peripheral sensorimotor polyneuropathy diseases." "" + "restless legs syndrome, susceptibility to, 5" "" + "major affective disorder 4" "" + "hereditary spastic paraplegia 32" "Autosomal recessive spastic paraplegia type 32 (SPG32) is a rare, complex type of hereditary spastic paraplegia characterized by a slowly progressive spastic paraplegia (with walking difficulties appearing at onset at 6-7 years of age) associated with mild intellectual disability. Brain imaging reveals thin corpus callosum, cortical and cerebellar atrophy, and pontine dysraphia. The SPG32 phenotype has been mapped to a locus on chromosome 14q12-q21." "" + "asphyxiating thoracic dystrophy 2" "Any Jeune syndrome in which the cause of the disease is a mutation in the IFT80 gene." "" + "glaucoma 1, open angle, N" "" + "glaucoma 1, open angle, H" "" + "obsolete generalized epilepsy with febrile seizures plus, type 3" "" "true" + "isobutyryl-CoA dehydrogenase deficiency" "An inborn error of valine metabolism. The prevalence is unknown. Only one symptomatic patient (with anaemia, failure to thrive, dilated cardiomyopathy and plasma carnitine deficiency) has been described so far, but several series of patients have been identified through newborn screening programs relying on detection of increased C(4)-carnitine levels by tandem mass spectrometry. The disorder is caused by mutations in the ACAD8 gene (11q25)." "" + "obsolete FTSD" "" "true" + "Cernunnos-XLF deficiency" "Cernunnos-XLF deficiency is a rare form of combined immunodeficiency characterized by microcephaly, growth retardation, and T and B cell lymphopenia." "" + "spastic ataxia 2" "Autosomal recessive spastic paraplegia type 58 is a rare, complex subtype of hereditary spastic paraplegia characterized by variable onset of slowly progressive lower limb spasticity and weakness and prominent cerebellar ataxia, associated with gait disturbances, dysarthria, increased deep tendon reflexes and extensor plantar responses. Additional features may include involuntary movements (i.e. clonus, tremor, fasciculations, chorea), decreased vibration sense, oculomotor abnormalities (e.g. nystagmus) and distal amyotrophy in the upper and lower limbs." "" + "spastic ataxia" "" + "autosomal recessive limb-girdle muscular dystrophy type 2L" "A form of limb-girdle muscular dystrophy most often characterized by an adult onset (but ranging from 11 to 51 years) of mainly proximal lower limb weakness, with difficulties standing on tiptoes being one of the initial signs. Proximal upper limb and distal lower limb weakness is also common as well as atrophy of the quadriceps (most commonly), biceps brachii, and lower leg muscles. However, calf hypertrophy has also been reported in some cases. LGMD2L progresses slowly, with most patients remaining ambulatory until late adulthood." "" + "qualitative or quantitative defects of fukutin" "" + "persistent hyperplastic primary vitreous, autosomal dominant" "" + "atrial septal defect 4" "Any atrial heart septal defect in which the cause of the disease is a mutation in the TBX20 gene." "" + "myoclonic epilepsy, juvenile, susceptibility to, 4" "" + "lethal congenital contracture syndrome 3" "Lethal congenital contracture syndrome type 3 is a rare arthrogryposis syndrome characterized by clinical features identical to Lethal congenital contracture syndrome type 2 (i.e. multiple congenital contactures (typically extended elbows and flexed knees), micrognathia, anterior horn cells degeneration, skeletal muscle atrophy (mainly in the lower limbs), in the absence of hydrops, pterygia or bone fractures), but without bladder enlargement." "" + "Mungan syndrome" "" + "brachydactyly type B2" "Brachydactyly type B2 is a rare, genetic congenital limb malformation disorder characterized by hypoplasia/aplasia of distal and/or middle phalanges in fingers and toes II-V (frequently severe in fingers/toes IV-V, milder in fingers/toes II-III) in association with proximal, and occasionally distal, symphalangism, fusion of carpal/tarsal bones and partial cutaneous syndactyly. Additional reported features include proximal placement of thumbs, sensorineural hearing loss and farsightedness." "" + "age related macular degeneration 9" "Any age-related macular degeneration in which the cause of the disease is a mutation in the C3 gene." "" + "susceptibility to visceral leishmaniasis, 2" "" + "susceptibility to visceral leishmaniasis, 3" "" + "Usher syndrome type 2D" "Any Usher syndrome in which the cause of the disease is a mutation in the WHRN gene." "" + "Plasmodium falciparum fever episodes quantitative trait locus 1" "" + "spastic ataxia 3" "Any autosomal recessive spastic ataxia in which the cause of the disease is a mutation in the MARS2 gene." "" + "cataract 33" "Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the BFSP1 gene." "" + "asthma-related traits, susceptibility to, 6" "" + "dilated cardiomyopathy 1W" "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the VCL gene." "" + "Tented eyebrows" "" + "Legius syndrome" "Legius syndrome, also known as NF1-like syndrome, is a rare, genetic skin pigmentation disorder characterized by multiple cafC)-au-lait macules with or without axillary or inguinal freckling." "" + "autosomal recessive nonsyndromic hearing loss 63" "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the LRTOMT gene." "" + "tremor, hereditary essential, 3" "" + "cholelithiasis" "The presence of calculi in the gallbladder." "" + "colorectal cancer, susceptibility to, 2" "" + "age related macular degeneration 10" "Any age-related macular degeneration in which the cause of the disease is a mutation in the TLR4 gene." "" + "corticosteroid-binding globulin deficiency" "Corticosteroid-binding globulin deficiency is a genetic disorder characterized by extreme tiredness (fatigue), particularly after physical exertion, and low blood pressure (hypotension). Corticosteroid-binding globulin (CBG) is a protein primarily produced in the liver that attaches to cortisol, a hormone with numerous functions, including maintaining blood sugar levels, protecting the body from stress, and suppressing inflammation.When cortisol is needed in the body, CBG delivers the cortisol where it is needed and releases it. Signs and symptoms of CBG deficiency vary. While some individuals may experience no symptoms, others are found to have a fatty liver and chronic pain. Some people with CBG deficiency also have chronic fatigue syndrome. CGB deficiency is caused by mutations in the SERPINA6 gene. The SERPINA6 gene is commonly also referred to as the CBG gene. Both autosomal dominant and autosomal recessive inheritance have been reported.While there is still no cure, treatment options will depend on the type and severity of symptoms present and may involve several specialists." "" + "autosomal recessive osteopetrosis 4" "Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the CLCN7 gene." "" + "atrial fibrillation, familial, 4" "Any familial atrial fibrillation in which the cause of the disease is a mutation in the KCNE2 gene." "" + "atrial fibrillation, familial, 5" "" + "autosomal recessive osteopetrosis 6" "Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the PLEKHM1 gene." "" + "nephronophthisis 7" "Any nephronophthisis in which the cause of the disease is a mutation in the GLIS2 gene." "" + "febrile seizures, familial, 7" "" + "immunodeficiency 35" "Any hereditary predisposition to infections in which the cause of the disease is a mutation in the TYK2 gene." "" + "pontocerebellar hypoplasia type 6" "Pontocerebellar hypoplasia type 6 (PCH6) is a rare form of pontocerebellar hypoplasia characterized clinically at birth by hypotonia, clonus, epilepsy impaired swallowing and from infancy by progressive microencephaly, spasticity and lactic acidosis." "" + "arrhythmogenic right ventricular dysplasia 12" "Any familial isolated arrhythmogenic right ventricular dysplasia in which the cause of the disease is a mutation in the JUP gene." "" + "major affective disorder 5" "" + "major affective disorder 6" "" + "familial cavitary optic disc anomaly" "" + "cataract 17 multiple types" "Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CRYBB1 gene." "" + "premature ovarian failure 5" "Any primary ovarian failure in which the cause of the disease is a mutation in the NOBOX gene." "" + "Noonan syndrome 5" "Any Noonan syndrome in which the cause of the disease is a mutation in the RAF1 gene." "" + "LEOPARD syndrome 2" "Any Noonan syndrome with multiple lentigines in which the cause of the disease is a mutation in the RAF1 gene." "" + "renal tubular acidosis, distal, with nephrocalcinosis, short stature, intellectual disability, and distinctive facies" "" + "glycogen storage disease due to muscle and heart glycogen synthase deficiency" "A glycogen storage disease characterised by muscle and heart glycogen deficiency. It has been described in three siblings (two brothers and their younger sister). The older brother died at 10.5 years of age as a result of sudden cardiac arrest and the younger brother presented with hypertrophic cardiomyopathy, abnormal heart rate and blood pressure during exercise, and muscle fatigability. The sister showed no symptoms but a lack of glycogen was identified through muscle biopsy. The syndrome is caused by homozygous missense mutations in the gene encoding muscle glycogen synthase." "" + "Joubert syndrome 7" "Any Joubert syndrome in which the cause of the disease is a mutation in the RPGRIP1L gene." "" + "Meckel syndrome, type 5" "Any Meckel syndrome in which the cause of the disease is a mutation in the RPGRIP1L gene." "" + "otosclerosis 4" "" + "otosclerosis 7" "" + "Waardenburg syndrome type 2E" "Any Waardenburg syndrome type 2 in which the cause of the disease is a mutation in the SOX10 gene." "" + "autosomal recessive limb-girdle muscular dystrophy type 2M" "A form of limb-girdle muscular dystrophy characterized by an infantile onset of hypotonia, axial and proximal lower limb weakness (with severe weakness noted after febrile illnesses), cardiomyopathy and normal or reduced intelligence. Hypertrophy of calves, thighs, and triceps have also been reported in some cases." "" + "renal tubular acidosis, distal, 4, with hemolytic anemia" "Distal renal tubular acidosis (dRTA) with anemia is a very rare form of distal renal tubular acidosis (dRTA) characterized by a defect in renal acidification and hereditary hemolytic anemia." "" + "constitutional hemolytic anemia due to membrane defect" "A group of inherited hemolytic anemias caused by erythrocyte membrane defects. This includes hereditary pyropoikilocytosis, hereditary spherocytosis and hereditary elliptocytosis." "True" + "cataract 12 multiple types" "A cataract that has material basis in heterozygous mutation in the gene encoding beaded filament structural protein-2 (BFSP2) on chromosome 3q22." "" + "celiac disease, susceptibility to, 6" "" + "lissencephaly due to TUBA1A mutation" "Lissencephaly (LIS) due to TUBA1A mutation is a congenital cortical development anomaly due to abnormal neuronal migration involving neocortical and hippocampal lamination, corpus callosum, cerebellum and brainstem. A large clinical spectrum can be observed, from children with severe epilepsy and intellectual and motor deficit to cases with severe cerebral dysgenesis in the antenatal period leading to pregnancy termination due to the severity of the prognosis." "" + "dilated cardiomyopathy 1X" "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the FKTN gene." "" + "benign familial mesial temporal lobe epilepsy" "Benign familial mesial temporal lobe epilepsy is a rare epilepsy characterized by seizures with viscerosensory or experential auras, onset in adolescence or early adulthood and good prognosis. It is defined as at least 24 months of seizure freedom with or without antiepileptic medication." "" + "familial temporal lobe epilepsy 4" "A temporal lobe epilepsy characterized by autosomal dominant inheritance of occipitotemporal lobe epilepsy and migraine with visual aura and that has material basis in variation in the chromosome region 9q21-q22." "" + "familial febrile seizures 9" "" + "primary lateral sclerosis, adult, 1" "" + "microphthalmia, isolated, with coloboma 5" "Any microphthalmia, isolated, with coloboma in which the cause of the disease is a mutation in the SHH gene." "" + "hirschsprung disease, susceptibility to, 9" "" + "peripapillary atrophy, beta type" "" + "dystonia with cerebellar atrophy" "" + "spondylometaphyseal dysplasia, East African type" "" + "early-onset myopathy with fatal cardiomyopathy" "" + "migraine with or without aura, susceptibility to, 12" "" + "spondyloepiphyseal dysplasia, Cantu type" "Spondyloepiphyseal dysplasia, Cantu type is an extremely rare type of spondyloepiphyseal dysplasia described in about 5 patients to date and characterized by clinical signs including short stature, peculiar facies with blepharophimosis, upward slanted eyes, abundant eyebrows and eyelashes, coarse voice, and short hands and feet (brachymetacarpalia, brachymetatarsalia and brachyphalangia)." "" + "renal hypomagnesemia 4" "Any primary hypomagnesemia in which the cause of the disease is a mutation in the EGF gene." "" + "familial primary hypomagnesemia with normocalciuria and normocalcemia" "Familial primary hypomagnesemia with normocalciuria and normocalcemia (FPHNN) is a form of familial primary hypomagnesemia (FPH), characterized by low serum magnesium (Mg) values but inappropriate normal urinary Mg values (i.e. renal hypomagnesemia). The typical symptoms are weakness of the limbs, vertigo, headaches, seizures, brisk tendon reflexes and mild to moderate psychomotor delay." "" + "hypotonia with lactic acidemia and hyperammonemia" "This syndrome is characterised by severe hypotonia, lactic academia and congenital hyperammonaemia." "" + "encephalopathy due to prosaposin deficiency" "Encephalopathy due to prosaposin deficiency is a lysosomal storage disease belonging to the group of sphingolipidoses." "" + "Krabbe disease, atypical, due to saposin A deficiency" "" + "progressive myoclonic epilepsy type 3" "Any progressive myoclonic epilepsy in which the cause of the disease is a mutation in the KCTD7 gene." "" + "Dauwerse-Peters syndrome" "" + "Leber congenital amaurosis 10" "Any Leber congenital amaurosis in which the cause of the disease is a mutation in the CEP290 gene." "" + "familial cold autoinflammatory syndrome 2" "An autoinflammatory disease caused by mutations in the NLRP12 gene. It is characterized by periodic fevers beginning in the first year of life that are triggered by cold exposure. Episodes occur more than once per month." "" + "lipoprotein glomerulopathy" "" + "autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome" "Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome is characterised by the association of hematuria (without proteinuria) with extrarenal manifestations: retinal arterial tortuosities responsible for retinal haemorrhages, cardiac arrhythmia, Raynaud phenomena and congenital muscular contractures." "" + "mucocutaneous lymph node syndrome" "Kawasaki disease (KD) is a febrile, systemic, self-limiting vasculitis affecting children and characterized by inflammation in the medium sized vessels associated with coronary arterial aneurysms (CAA) that may be life threatening when untreated. KD is the most common cause of acquired heart disease in children in developed countries and is a risk factor for ischemic heart disease in adulthood." "" + "Brugada syndrome 2" "Any Brugada syndrome in which the cause of the disease is a mutation in the GPD1L gene." "" + "erythrocytosis, familial, 4" "Any familial polycythemia in which the cause of the disease is a mutation in the EPAS1 gene." "" + "aortic aneurysm, familial thoracic 6" "Any familial thoracic aortic aneurysm and aortic dissection in which the cause of the disease is a mutation in the ACTA2 gene." "" + "elliptocytosis 1" "Any hereditary elliptocytosis in which the cause of the disease is a mutation in the EPB41 gene." "" + "tremor, hereditary essential, and idiopathic normal pressure hydrocephalus" "" + "autosomal recessive bestrophinopathy" "Autosomal recessive bestrophinopathy (ARB) is a retinal dystrophy, characterized by central visual loss in the first 2 decades of life, associated with an absent electrooculogram (EOG) light rise and a reduced electroretinogram (ERG)." "" + "SERKAL syndrome" "SERKAL (SEx Reversion, Kidneys, Adrenal and Lung dysgenesis) syndrome is characterised by female to male sex reversal and developmental anomalies of the kidneys, adrenal glands and lungs." "" + "Temple-Baraitser syndrome" "Temple-Baraitser syndrome is a rare developmental anomalies syndrome characterized by severe intellectual disability and distal hypoplasia of digits, particularly of thumbs and halluces, with nail aplasia or hypoplasia. Facial dysmorphism with a pseudo-myopathic appearance has been reported, which may include high anterior hairline or low frontal hairline with central cowlick, flat forehead, ptosis, hypertelorism, downslanting palpebral fissures, epicanthal folds, ears with thick helices, broad depressed nasal bridge with anteverted nares, short columella, long philtrum, high-arched palate, broad mouth with thick vermilion border of the upper or the lower lip and downturned corners. Marked hypotonia, seizures and global developmental delay have been reported, associated with autistic spectrum disorder manifestations in some patients." "" + "long QT syndrome 9" "Any long QT syndrome in which the cause of the disease is a mutation in the CAV3 gene." "" + "long QT syndrome 10" "Any long QT syndrome in which the cause of the disease is a mutation in the SCN4B gene." "" + "long QT syndrome 11" "Any long QT syndrome in which the cause of the disease is a mutation in the AKAP9 gene." "" + "microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome" "This syndrome is characterised by the association of microtia, eye coloboma, and imperforation of the nasolacrimal duct." "" + "chromosome 22q11.2 deletion syndrome, distal" "Distal 22q11.2 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 22 with a highly variable phenotype characterized by prematurity, pre- and post-natal growth retardation, developmental delay (particularly speech), mild intellectual disability, variable cardiac defects, and minor skeletal anomalies (such as clinodactyly). Dysmorphic features include prominent forehead, arched eyebrows, deep set eyes, narrow upslanting palpebral fissures, ear abnormalities, hypoplastic alae nasi, smooth philtrum, down-turned mouth, thin upper lip, retro/micrognatia and pointed chin. For certain very distal deletions, there is a risk of developing malignant rhabdoid tumours." "" + "prostate cancer, hereditary, 12" "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." "" + "Brugada syndrome 3" "Any Brugada syndrome in which the cause of the disease is a mutation in the CACNA1C gene." "" + "Brugada syndrome 4" "Any Brugada syndrome in which the cause of the disease is a mutation in the CACNB2 gene." "" + "dilated cardiomyopathy 1Y" "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the TPM1 gene." "" + "dilated cardiomyopathy 1Z" "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the TNNC1 gene." "" + "dilated cardiomyopathy 2A" "A dilated cardiomyopathy that has material basis in mutation in the TNNI3 gene on chromosome 19q13." "" + "glycogen storage disease due to aldolase A deficiency" "Glycogen storage disease due to aldolase A deficiency is an extremely rare glycogen storage disease characterized by hemolytic anemia with or without myopathy or intellectual deficit. Myopathy can be severe enough to result in fatal rhabdomyolysis in some patients. A family with episodic rhabdomyolysis (triggerd by fever) without hemolytic anemia has recently been reported." "" + "primary ciliary dyskinesia 7" "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAH11 gene." "" + "mesomelic dysplasia, camera type" "" + "lethal arthrogryposis-anterior horn cell disease syndrome" "" + "aortic aneurysm, familial abdominal, 3" "" + "aneurysm, intracranial berry, 6" "" + "amyotrophic lateral sclerosis type 9" "Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the ANG gene." "" + "nanophthalmos 3" "" + "episodic ataxia type 7" "Episodic ataxia type 7 (EA7) is an exceedingly rare form of Hereditary episodic ataxia characterized by ataxia with weakness, vertigo, and dysarthria without interictal findings." "" + "proximal 16p11.2 microdeletion syndrome" "A chromosomal anomaly characterized by developmental and language delays, mild intellectual disability, social impairments (autism spectrum disorders), mild variable dysmorphism and predisposition to obesity." "" + "lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome" "Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome is characterised by immune deficiency, gonadal dysgenesis and fatal lung fibrosis. So far, it has been described in two sisters born to consanguineous parents. Both karyotypes were normal female (46,XX). No genetic anomalies could be identified by comparative genome hybridization analysis of their genomes or by analysis of genes known to be associated with these types of anomalies." "" + "prostate cancer, hereditary, 13" "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." "" + "camptodactyly syndrome, Guadalajara type 3" "Camptodactyly syndrome, Guadalajara type 3 is a rare, genetic bone development disorder characterized by hand camptodactyly associated with facial dysmorphism (flat face, hypertelorism, telecanthus, symblepharon, simplified ears, retrognathia) and neck anomalies (short neck with stricking pterygia, muscle sclerosis). Additional features include spinal defects (e.g. cervical and dorso-lumbar spina bifida occulta), congenital shortness of the sternocleidomastoid muscle, flexed wrists and thin hands and feet. Brain structural anomalies, multiple nevi, micropenis and mild intellectual disability are also observed. Imaging reveals increased bone traveculae, cortical thickening of long bones and delayed bone age." "" + "epilepsy, idiopathic generalized, susceptibility to, 5" "" + "chromosome 3q29 microduplication syndrome" "3q29 microduplication is a chromosomal abnormality associated with variable clinical findings including mild or moderate intellectual deficit and microcephaly." "" + "partial duplication of the long arm of chromosome 3" "Chromosome 3q duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on thelong arm (q) of chromosome 3. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 3q duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Chromosome 3q duplication can be de novo or inherited from a parent with a chromosomal rearrangement such as a balanced translocation. Treatment is based on the signs and symptoms present in each person." "" + "catecholaminergic polymorphic ventricular tachycardia 2" "Any catecholaminergic polymorphic ventricular tachycardia in which the cause of the disease is a mutation in the CASQ2 gene." "" + "epilepsy, childhood absence, susceptibility to, 6" "An inherited susceptibility or predisposition to developing child absence epilepsy or idiopathic generalized epilepsy, in which the cause of the disease is a mutation in the CACNA1H gene." "" + "RIDDLE syndrome" "An autosomal recessive disease characterized by increased radiosensitivity, immunodeficiency, mild motor control and learning difficulties, facial dysmorphism, and short stature that has material basis in homozygous or compound heterozygous mutation in the RNF168 gene on chromosome 3q29." "" + "lymphatic malformation 2" "" + "hereditary spastic paraplegia 37" "Autosomal dominant spastic paraplegia type 37 is a pure form of hereditary spastic paraplegia characterized by a childhood- to adulthood-onset of slowly progressive spastic gait, extensor plantar responses, brisk tendon reflexes in arms and legs, decreased vibration sense at ankles and urinary dysfunction. Ankle clonus is also reported in some patients." "" + "age related macular degeneration 11" "Any age-related macular degeneration in which the cause of the disease is a mutation in the CST3 gene." "" + "prostate cancer, hereditary, 11" "" + "prostate cancer, hereditary, 14" "" + "prostate cancer, hereditary, 15" "" + "asthma-related traits, susceptibility to, 7" "Any inherited susceptibility to asthma in which the cause of the disease is a mutation in the CHI3L1 gene." "" + "Stevenson-Carey syndrome" "" + "Hunter-Macdonald syndrome" "" + "chromosome 15q13.3 microdeletion syndrome" "15q13.3 microdeletion (microdel15q13.3) syndrome is characterized by a wide spectrum of neurodevelopmental disorders with no or subtle dysmorphic features." "" + "thrombocytopenia 4" "Any thrombocytopenia in which the cause of the disease is a mutation in the CYCS gene." "" + "celiac disease, susceptibility to, 7" "" + "celiac disease, susceptibility to, 8" "" + "celiac disease, susceptibility to, 9" "" + "celiac disease, susceptibility to, 10" "" + "celiac disease, susceptibility to, 11" "" + "celiac disease, susceptibility to, 12" "" + "celiac disease, susceptibility to, 13" "" + "RFT1-CDG" "RFT1-CDG is a form of congenital disorders of N-linked glycosylation characterized by poorly coordinated suck resulting in difficulty feeding and failure to thrive; myoclonic jerks with hypotonia and brisk reflexes progressing to a seizure disorder; roving eyes; developmental delay; poor to absent visual contact; and sensorineural hearing loss. Additional features that may be observed include coagulation factor abnormalities, inverted nipples and microcephaly. The disease is caused by mutations in the gene RFT1 (3p21.1)." "" + "autosomal recessive ataxia due to ubiquinone deficiency" "This syndrome is characterised by childhood-onset progressive ataxia and cerebellar atrophy." "" + "pyloric stenosis, infantile hypertrophic, 3" "" + "juvenile cataract-microcornea-renal glucosuria syndrome" "Juvenile cataract - microcornea - renal glucosuria is an extremely rare autosomal dominant association reported in a single Swiss family and characterized clinically by juvenile cataract associated with bilateral microcornea, and renal glucosuria without other renal tubular defects." "" + "hereditary spastic paraplegia 39" "This syndrome is characterised by progressive spastic paraplegia and distal muscle wasting." "" + "coronary heart disease, susceptibility to, 9" "" + "dystonia 16" "Dystonia 16 (DYT16) is a very rare and newly discovered movement disorder which is characterized by early-onset progressive limb dystonia, laryngeal and oromandibular dystonia, and parkinsonism." "" + "amyotrophic lateral sclerosis type 10" "Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the TARDBP gene." "" + "mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria" "Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria is characterised by the association of a mitochondrial encephalomyopathy and an aminoacidopathy. It has been described in two brothers presenting with developmental delay, neurological signs, deafness, exercise intolerance, lactic acidosis and elevation of several plasmatic amino acids. Mitochondria morphology was found to be abnormal on muscle biopsy. Transmission is likely to be linked to maternal mitochondrial DNA." "" + "mitochondrial DNA depletion syndrome 8a" "Any mitochondrial DNA depletion syndrome in which the cause of the disease is a mutation in the RRM2B gene." "" + "hypouricemia, renal, 2" "" + "ANE syndrome" "ANE syndrome is a rare, genetic, neuro-endocrino-cutaneous disorder characterized by highly variable degrees of alopecia, moderate to severe intellectual disability, progressive, late-onset motor deterioration and combined anterior pituitary hormone deficiency, manifesting with central hypogonadotropic hypogonadism, delayed or absent puberty, growth hormone deficiency (resulting in short stature), progressive central adrenal insufficiency and a hypoplastic anterior pituitary gland. Additional features include hypodontia, flexural reticulate hyperpigmentation, gynecomastia, microcephaly and kyphoscoliosis." "" + "hypophosphatemic rickets and hyperparathyroidism" "" + "retinitis pigmentosa 41" "Any retinitis pigmentosa in which the cause of the disease is a mutation in the PROM1 gene." "" + "otosclerosis 8" "" + "deafness, unilateral, with delayed endolymphatic hydrops" "" + "hypertrophic cardiomyopathy 11" "Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the ACTC1 gene." "" + "trichoepithelioma, multiple familial, 2" "" + "autism, susceptibility to, 15" "" + "oculoauricular syndrome" "Oculoauricular syndrome, Schorderet type is a rare, genetic developmental defect during embryogenesis characterized by various ophthalmic anomalies (including congenital microphthalmia, microcornea, cataract, anterior segment dysgenesis, ocular coloboma and early onset rod-cone dystrophy), and abnormal external ears (low-set pinna with crumpled helix, narrow intertragic incisure, abnormal bridge connecting the crus of the helix and the anthelix, narrow external acoustic meatus, and lobule aplasia)." "" + "diarrhea-vomiting due to trehalase deficiency" "This syndrome is characterised by diarrhoea and vomiting after ingestion of trehalose, a disaccharide found mainly in mushrooms." "" + "hypertrophic cardiomyopathy 12" "Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the CSRP3 gene." "" + "childhood onset GLUT1 deficiency syndrome 2" "Paroxysmal exertion-induced dyskinesia (PED) is a form of paroxysmal dyskinesia, characterized by painless attacks of dystonia of the extremities triggered by prolonged physical activities." "" + "ectodermal dysplasia and immunodeficiency 2" "" + "epidermolysis bullosa simplex with pyloric atresia" "Epidermolysis bullosa simplex with pyloric atresia (EBS-PA) is a basal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized severe blistering with widespread congenital absence of skin and pyloric atresia." "" + "dilated cardiomyopathy 1AA" "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the ACTN2 gene." "" + "histiocytoma, Angiomatoid fibrous" "A low malignant potential soft tissue neoplasm of uncertain differentiation. It typically affects young patients, presenting as a slowly growing nodular or cystic tumor mass, most often in the subcutaneous tissues of the extremities. Occasionally, patients have systemic symptoms (anemia, fever, and weight loss). This tumor has a relatively good prognosis. A minority of patients develop local recurrences. Metastases are rare." "" + "aneurysm, intracranial berry, 7" "" + "aneurysm, intracranial berry, 8" "" + "developmental and epileptic encephalopathy, 4" "Early infantile epileptic encephalopathy 4 (EIEE4) is a form of early infantile epileptic encephalopathy, which refers to a group of neurological conditions characterized by severe seizures beginning in infancy. EIEE4, specifically, is often associated with partial complex or tonic-clonic seizures, although other seizure types have been reported. Other signs and symptoms mayinclude intellectual disability, reduced muscle tone (hypotonia), hypsarrhythmia (an irregular pattern seen on EEG), dyskinesia (involuntary movement of the body), and spastic di- or quadriplegia. EIEE4 is caused by changes (mutations) in the STXBP1 gene and is inherited in an autosomal dominant manner. Treatment is based on the signs and symptoms present in each person. For example, certain medications are often prescribed to help control seizures, although they are not always effective in all people with the condition." "" + "Dravet syndrome" "Dravet syndrome is a channelopathy with epilepsy of with onset during the first year of life, typically 4-5 months, characterized by status epilepticus and a variety of drug-resistant seizures often induced by fever, presenting in previously healthy children, and which frequently leads to cognitive and motor impairment. Dravet differs from other channelopathies usually due to a mutation in SCN1A." "" + "retinitis pigmentosa 29" "A retinitis pigmentosa that has material basis in variation in the chromosome region 4q32-q34." "" + "diastasis recti and weakness of the linea alba" "" + "Coats plus syndrome" "Coats plus syndrome is a pleiotropic multisystem disorder characterized by retinal telangiectasia and exudates, intracranial calcification with leukoencephalopathy and brain cysts, osteopenia with predisposition to fractures, bone marrow suppression, gastrointestinal bleeding and portal hypertension. It is transmitted as an autosomal recessive disease." "" + "atrial fibrillation, familial, 6" "Any familial atrial fibrillation in which the cause of the disease is a mutation in the NPPA gene." "" + "Ewing sarcoma/peripheral primitive neuroectodermal tumor" "A spectrum of malignant tumors, affecting mostly males under age 20, characterized morphologically by the presence of small round cells. Ewing sarcoma and peripheral primitive neuroectodermal tumor represent the ends of a spectrum, with Ewing sarcoma lacking evidence of neural differentiation and the markers that characterize the peripheral primitive neuroectodermal tumor. Ewing sarcoma and peripheral primitive neuroectodermal tumor may share cytogenetic abnormalities, proto-oncogene expression, cell culture and immunohistochemical abnormalities. These tumors may occur in the soft tissues or the bones. Pain and the presence of a mass are the most common clinical symptoms." "" + "maturity-onset diabetes of the young type 9" "Any maturity-onset diabetes of the young in which the cause of the disease is a mutation in the PAX4 gene." "" + "colorectal cancer, susceptibility to, 3" "Any colorectal cancer in which the cause of the disease is a mutation in the SMAD7 gene." "" + "colorectal cancer, susceptibility to, 5" "" + "colorectal cancer, susceptibility to, 6" "" + "colorectal cancer, susceptibility to, 7" "" + "hypomyelinating leukodystrophy 4" "Any leukodystrophy in which the cause of the disease is a mutation in the HSPD1 gene." "" + "scoliosis, isolated, susceptibility to, 4" "" + "scoliosis, isolated, susceptibility to, 5" "" + "atrial fibrillation, familial, 7" "Any familial atrial fibrillation in which the cause of the disease is a mutation in the KCNA5 gene." "" + "inflammatory bowel disease 12" "An inflammatory bowel disease that has material basis in variation in the chromosome region 3p21.3" "" + "chromosome 10q23 deletion syndrome" "10q22.3q23.3 microdeletion syndrome is a rare partial autosomal monosomy characterized by a mild facial dysmorphism variably including macrocephaly, broad forehead, hypertelorism or hypotelorism, deep-set eyes, upslanting or downslanting palpebral fissures, low-set ears, flat nasal bridge, smooth philtrum, thin upper lip), cleft palate, cerebellar and cardiac malformations, psychomotor development delay, and behavioral abnormalities (attention deficit hyperactivity disorder, autism). Other rare features may include congenital breast aplasia, arachnodactyly, joint hyperlaxity, club feet, feeding difficulties, failure to thrive." "" + "inflammatory bowel disease 13" "Any inflammatory bowel disease in which the cause of the disease is a mutation in the ABCB1 gene." "" + "inflammatory bowel disease 14" "Any inflammatory bowel disease in which the cause of the disease is a mutation in the IRF5 gene." "" + "Crouzon syndrome-acanthosis nigricans syndrome" "Crouzon syndrome with acanthosis nigricans (CAN) is a very rare, clinically heterogeneous form of faciocraniostenosis with Crouzon-like features and premature synostosis of cranial sutures (Crouzon disease), associated with acanthosis nigricans (AN)." "" + "systemic lupus erythematosus, susceptibility to, 10" "Any systemic lupus erythematosus in which the cause of the disease is a mutation in the IRF5 gene." "" + "systemic lupus erythematosus, susceptibility to, 11" "Any systemic lupus erythematosus in which the cause of the disease is a mutation in the STAT4 gene." "" + "systemic lupus erythematosus, susceptibility to, 12" "" + "inflammatory bowel disease 15" "An inflammatory bowel disease that has material basis in variation in the chromosome region 10q21." "" + "inflammatory bowel disease 16" "An inflammatory bowel disease that has material basis in variation in the chromosome region 9q32." "" + "pyogenic bacterial infections due to MyD88 deficiency" "Pyogenic bacterial infection due to MyD88 deficiency is a primary immunodeficiency characterized by increased susceptibility to pyogenic bacterial infections, including invasive pneumococcal, invasive staphylococcal and pseudomonas disease." "" + "inflammatory bowel disease 17" "Any inflammatory bowel disease in which the cause of the disease is a mutation in the IL23R gene." "" + "inflammatory bowel disease 18" "An inflammatory bowel disease that has material basis in variation in the chromosome region 5p13.1." "" + "melanoma, cutaneous malignant, susceptibility to, 7" "" + "epilepsy, childhood absence, susceptibility to, 5" "Any childhood absence epilepsy in which the cause of the disease is a mutation in the GABRB3 gene." "" + "primary ciliary dyskinesia 8" "A primary ciliary dyskinesia that has material basis in variation in the chromosome region 15q24-q25." "" + "inflammatory bowel disease 19" "Any inflammatory bowel disease in which the cause of the disease is a mutation in the IRGM gene." "" + "generalized epilepsy with febrile seizures plus, type 6" "" + "autosomal recessive congenital ichthyosis 6" "Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the NIPAL4 gene." "" + "Meckel syndrome, type 6" "Any Meckel syndrome in which the cause of the disease is a mutation in the CC2D2A gene." "" + "Joubert syndrome 9" "Any Joubert syndrome in which the cause of the disease is a mutation in the CC2D2A gene." "" + "hypophosphatemic nephrolithiasis/osteoporosis 1" "" + "dominant hypophosphatemia with nephrolithiasis or osteoporosis" "" + "hypophosphatemic nephrolithiasis/osteoporosis 2" "" + "inflammatory bowel disease 20" "An inflammatory bowel disease that has material basis in variation in the chromosome region 10q23-q24." "" + "Fontaine progeroid syndrome" "A rare premature aging syndrome characterized by pre-and postnatal growth retardation, a congenital premature-aged appearance with distinctive craniofacial dysmorphism (wide calvaria with large open anterior fontanel and wide metopic suture, broad forehead, small face, micrognathia), markedly diminished subcutaneous fat, cutis laxa and wrinkled skin, without delay in psychomotor development. Scant, brittle hair, hypoplastic nails and delayed, abnormal dentition, as well as hypoplastic distal phalanges, umbilical hernia and eye abnormalities (myopia/hyperopia, strabismus), are also commonly associated." "" + "bilateral microtia-deafness-cleft palate syndrome" "This syndrome is characterized by the association of bilateral microtia with severe to profound hearing impairment, and cleft palate." "" + "Joubert syndrome 8" "Any Joubert syndrome in which the cause of the disease is a mutation in the ARL13B gene." "" + "Birk-Barel syndrome" "Birk-Barel syndrome is an inherited condition characterized by intellectual disability, hypotonia, hyperactivity, and unusual facial features. The condition is caused by mutations in the KCNK9 gene on chromosome 8. This condition demonstrates dominant inheritance with paternal imprinting, which means that a mutation in the maternal gene will result in disease, but a mutation in the paternal gene will have no effect (imprinted with paternal silencing)." "" + "porokeratosis 5, disseminated superficial actinic type" "" + "primary CD59 deficiency" "" + "autosomal recessive osteopetrosis 7" "Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the TNFRS11A gene." "" + "thrombophilia due to protein C deficiency, autosomal recessive" "" + "premature ovarian failure 6" "Any primary ovarian failure in which the cause of the disease is a mutation in the FIGLA gene." "" + "attention deficit-hyperactivity disorder, susceptibility to, 5" "" + "attention deficit-hyperactivity disorder, susceptibility to, 6" "" + "chromosome 2q32-q33 deletion syndrome" "2q32q33 microdeletion syndrome is a recently described syndrome characterized by a variable phenotype involving moderate to severe intellectual deficit, significant speech delay, persistent feeding difficulties, growth retardation and dysmorphic features." "" + "SATB2 associated disorder" "A syndromic intellectual disability disorder that is characterized by significant neurodevelopmental disabilities with limited to absent speech, behavioral issues, and craniofacial anomalies. Most distinctive features are neurodevelopmental with invariably severely limited speech, cleft or high arched palate, dental anomalies (crowding, macrodontia, abnormal shape), and behavioral issues with or without bone or brain anomalies." "" + "Pseudofolliculitis barbae" "" + "hereditary spastic paraplegia 35" "Autosomal recessive spastic paraplegia type 35 is a rare form of hereditary spastic paraplegia characterized by childhood (exceptionally adolescent) onset of a complex phenotype presenting with lower limb (followed by upper limb) spasticity with hyperreflexia and extensor plantar responses, with additional manifestations including progressive dysarthria, dystonia, mild cognitive decline, extrapyramidal features, optic atrophy and seizures. White matter abnormalities and brain iron accumulation have also been observed on brain magnetic resonance imaging." "" + "hereditary spastic paraplegia 38" "A hereditary spastic paraplegia that has material basis in variation in the chromosome region 4p16-p15." "" + "thrombophilia due to protein S deficiency, autosomal dominant" "Autosomal dominant form of hereditary thrombophilia due to congenital protein S deficiency." "" + "hereditary thrombophilia due to congenital protein S deficiency" "Congenital protein S deficiency is an inherited coagulation disorder characterized by recurrent venous thrombosis symptoms due to reduced synthesis and/or activity levels of protein S." "" + "obsolete thrombotic disorder due to an acquired coagulation factors defect" "An instance of rare thrombotic disorder due to a coagulation factors defect that is acquired during the lifetime of the individual." "True" "true" + "intellectual disability, autosomal dominant 22" "Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the ZBTB18 gene." "" + "chromosome 2q31.2 deletion syndrome" "" + "Jervell and Lange-Nielsen syndrome 2" "Any Jervell and Lange-Nielsen syndrome in which the cause of the disease is a mutation in the KCNE1 gene." "" + "long QT syndrome 5" "Any long QT syndrome in which the cause of the disease is a mutation in the KCNE1 gene." "" + "thrombophilia, familial, due to decreased release of tissue plasminogen activator" "" + "Ehlers-Danlos syndrome, spondylocheirodysplastic type" "Ehlers-Danlos syndrome, spondylocheirodysplastic type is a subtype of Ehlers-Danlos syndrome characterized by skeletal dysplasia comprising platyspondyly with moderate short stature, osteopenia and widened metaphyses, in addition to hyperextensible, thin, easily bruised skin, hypermobility of small joints with tendency to contractures, prominent eyes with bluish sclerae, wrinkled palms, atrophy of the thenar muscle and tapering fingers." "" + "porokeratosis 6, disseminated superficial actinic type" "" + "inflammatory bowel disease 21" "An inflammatory bowel disease that has material basis in variation in the chromosome region 18p11." "" + "heparin cofactor 2 deficiency" "" + "major affective disorder 8" "" + "Cowden syndrome 2" "Any Cowden disease in which the cause of the disease is a mutation in the SDHB gene." "" + "schizophrenia 14" "A schizophrenia that has material basis in a mutation on chromosome 2q32.1." "" + "hypogonadotropic hypogonadism 5 with or without anosmia" "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the CHD7 gene." "" + "major affective disorder 7" "" + "major affective disorder 9" "" + "acute promyelocytic leukemia" "An aggressive form of acute myeloid leukemia (AML), characterized by arrest of leukocyte differentiation at the promyelocyte stage, due to a specific chromosomal translocation t(15;17) in myeloid cells. APL manifests with easy bruising, hemorrhagic diathesis and fatigue." "" + "systemic lupus erythematosus, susceptibility to, 13" "" + "SRD5A3-CDG" "SRD5A3-CDG is a rare, non X-linked congenital disorder of gyclosylation due to steroid 5 alpha reductase type 3 deficiency characterized by a highly variable phenotype typically presenting with severe visual impairment, variable ocular anomalies (such as optic nerve hypoplasia/atrophy, iris and optic nerve coloboma, congenital cataract, glaucoma), intellectual disability, cerebellar abnormalities, nystagmus, hypotonia, ataxia, and/or ichthyosiform skin lesions. Other reported manifestations include retinitis pigmentosa, kyphosis, congenital heart defects, hypertrichosis and abnormal coagulation." "" + "inflammatory bowel disease 22" "An inflammatory bowel disease that has material basis in variation in the chromosome region 17q21.2." "" + "inflammatory bowel disease 23" "An inflammatory bowel disease that has material basis in variation in the chromosome region 1q32.1." "" + "sarcoidosis, susceptibility to, 2" "Any sarcoidosis in which the cause of the disease is a mutation in the BTNL2 gene." "" + "sarcoidosis, susceptibility to, 3" "" + "pontocerebellar hypoplasia type 2B" "Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the TSEN2 gene." "" + "pontocerebellar hypoplasia type 2C" "Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the TSEN34 gene." "" + "bone fragility with contractures, arterial rupture, and deafness" "A rare, genetic disease, caused by lack of lysyl hydrohylase 3 (LH3) activity, characterized by multiple tissue and organ involvement, including skeletal abnormalities (club foot, progressive scoliosis, osteopenia, pathologic fractures), ocular involvement (flat retinae, myopia, cataracts) and hair, nail and skin anomalies (coarse, abnormally distributed hair, skin blistering, reduced palmar creases, hypoplastic nails). Patients also present intrauterine growth retardation, facial dysmorphism (flat facial profile, low-set ears, shallow orbits, short and upturned nose, downturned corners of mouth) and joint flexion contractures. Growth and developmental delay, bilateral sensorineural deafness, friable diaphragm and later-onset spontaneous vascular ruptures are additional reported features." "" + "osteoarthritis susceptibility 5" "Any osteoarthritis in which the cause of the disease is a mutation in the GDF5 gene." "" + "osteoarthritis susceptibility 6" "" + "torsion dystonia 17" "A dystonia characterized by autosomal recessive inheritance of progressive dystonia, dysphonia, dysarthria and neck torticollis that has material basis in variation in the chromosome region 20p11.2-q13.12." "" + "psoriasis 10, susceptibility to" "" + "congenital factor XI deficiency" "Congenital factor XI deficiency is an inherited bleeding disorder characterized by reduced levels and activity of factor XI (FXI) resulting in moderate bleeding symptoms, usually occurring after trauma or surgery." "" + "factor XI deficiency" "A coagulation disorder characterized by the partial or complete absence of factor XI activity in the blood." "" + "narcolepsy 4, susceptibility to" "" + "alopecia, androgenetic, 3" "" + "cardiomyopathy, familial restrictive, 3" "Any familial isolated restrictive cardiomyopathy in which the cause of the disease is a mutation in the TNNT2 gene." "" + "inherited prekallikrein deficiency" "An instance of prekallikrein deficiency that is caused by an inherited modification of the individual's genome." "" + "prekallikrein deficiency" "A condition characterized by the congenital or acquired deficiency of prekallikrein. This deficiency is usually not associated with bleeding. The congenital deficiency is very rare. Acquired deficiency may occur in diffuse intravascular coagulation, infections, and sickle cell disease." "" + "autosomal dominant nonsyndromic hearing loss 27" "An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 4q12-q13.1." "" + "autosomal recessive nonsyndromic hearing loss 45" "An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 1q43-q44." "" + "epilepsy, progressive myoclonic, 1B" "Any progressive myoclonic epilepsy in which the cause of the disease is a mutation in the PRICKLE1 gene." "" + "hypomyelinating leukodystrophy 6" "Hypomyelination with atrophy of basal ganglia and cerebellum (H-ABC) is characterized by slowly progressive spasticity, extrapyramidal movement disorders (dystonia, choreoathetosis and rigidity), cerebellar ataxia, moderate to severe cognitive deficit, and anarthria/dysarthria." "" + "primary ciliary dyskinesia 9" "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAI2 gene." "" + "blindness - scoliosis - arachnodactyly syndrome" "This syndrome associates progressive visual loss with scoliosis or kyphoscoliosis and arachnodactyly of the fingers and toes." "" + "complement component 6 deficiency" "Any classic complement early component deficiency in which the cause of the disease is a mutation in the C6 gene." "" + "skeletal defects, genital hypoplasia, and intellectual disability" "" + "age-related hearing impairment 1" "" + "pseudohypoparathyroidism type 1C" "Pseudohypoparathyroidism type 1c (PHP1c) is a rare type of pseudohypoparathyroidism (PHP) characterized by resistance to parathyroid hormone (PTH) and other hormones, which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, a constellation of clinical features collectively termed Albright's hereditary osteodystrophy (AHO), but normal activity of the stimulatory protein G (Gs alpha)." "" + "pseudopseudohypoparathyroidism" "Pseudopseudohypoparathyroidism (pseudo-PHP) is a disease characterized by a constellation of clinical features collectively termed Albright hereditary osteodystrophy (AHO) but no evidence of resistance to parathyroid hormone (PTH), which is seen in other forms of pseudohypoparathyroidism (PHP)." "" + "Wilms tumor, aniridia, genitourinary anomalies, intellectual disability, and obesity syndrome" "A sub-phenotype of WAGR that includes obesity, and is associated with mutation(s) in the BDNF gene." "" + "chromosome 1q21.1 deletion syndrome" "1q21.1 microdeletion syndrome is a newly described recurrent deletion syndrome with variable clinical manifestations but without the clinical picture of thrombocytopenia - absent radius (TAR) syndrome." "" + "chromosome 1q deletion" "Chromosome 1q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on thelong arm (q) of chromosome 1. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 1q deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person." "" + "chromosome 1q21.1 duplication syndrome" "Chromosome 1q21.1 duplication syndrome is a rare condition caused by the presence of an extra copy of a small piece of chromosome 1 in the cells of the body. Signs and symptoms can vary widely among affected individuals. Some individuals have no symptoms, while others may have features such as a large head size (macrocephaly); mild to moderate developmental delay and learning difficulties; autism or autistic-like behavior; heart problems; seizures; and/or and distinctive facial features. This condition can occur sporadically as a de novo mutation (by chance) or can be inherited in an autosomal dominant manner from a parent. Treatment depends on the signs and symptoms present in each individual." "" + "partial duplication of the long arm of chromosome 1" "" + "chromosome 2p16.1-p15 deletion syndrome" "2p15p16.1 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism." "" + "partial deletion of the short arm of chromosome 2" "" + "specific language impairment 4" "" + "primary ciliary dyskinesia 10" "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAAF2 gene." "" + "type 1 diabetes mellitus 20" "Any type 1 diabetes mellitus in which the cause of the disease is a mutation in the HNF1A gene." "" + "type 1 diabetes mellitus 21" "A type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 6q25." "" + "type 1 diabetes mellitus 22" "Any type 1 diabetes mellitus in which the cause of the disease is a mutation in the CCR5 gene." "" + "pyloric stenosis, infantile hypertrophic, 5" "" + "congenital generalized lipodystrophy type 3" "Any congenital generalized lipodystrophy in which the cause of the disease is a mutation in the CAV1 gene." "" + "Diamond-Blackfan anemia 4" "Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS17 gene." "" + "Diamond-Blackfan anemia 5" "Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPL35A gene." "" + "amelogenesis imperfecta hypomaturation type 2A2" "Any amelogenesis imperfecta in which the cause of the disease is a mutation in the MMP20 gene." "" + "chromosome 1q41-q42 deletion syndrome" "1q41q42 microdeletion syndrome is a chromosomal anomaly characterized by a severe developmental delay and/or intellectual disability, typical facial dysmorphic features, brain anomalies, seizures, cleft palate, clubfeet, nail hypoplasia and congenital heart disease." "" + "hereditary spastic paraplegia 42" "Autosomal dominant spastic paraplegia type 42 is a pure form of hereditary spastic paraplegia characterized by slowly progressive spastic paraplegia of lower extremities with an age of onset ranging from childhood to adulthood and patients presenting with spastic gait, increased tendon reflexes in lower limbs, extensor plantar response, weakness and atrophy of lower limb muscles and, in rare cases, pes cavus. No abnormalities are noted on magnetic resonance imaging." "" + "Compton-North congenital myopathy" "" + "autosomal recessive severe congenital neutropenia due to G6PC3 deficiency" "" + "focal segmental glomerulosclerosis 4, susceptibility to" "Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the APOL1 gene." "" + "myopia 16, autosomal dominant" "" + "breast-ovarian cancer, familial, susceptibility to, 2" "Any hereditary breast ovarian cancer syndrome in which the cause of the disease is a mutation in the BRCA2 gene." "" + "leukemia, chronic lymphocytic, susceptibility to, 3" "" + "leukemia, chronic lymphocytic, susceptibility to, 4" "" + "leukemia, chronic lymphocytic, susceptibility to, 5" "" + "Diamond-Blackfan anemia 6" "Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPL5 gene." "" + "Diamond-Blackfan anemia 7" "Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPL11 gene." "" + "Diamond-Blackfan anemia 8" "Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS7 gene." "" + "inflammatory bowel disease 24" "An inflammatory bowel disease that has material basis in variation in the chromosome 20q13." "" + "inflammatory bowel disease 25" "Any inflammatory bowel disease in which the cause of the disease is a mutation in the IL10RB gene." "" + "immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome" "Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome is a rare immune dysregulation disease with immunodeficiency characterized by severe, progressive infantile onset inflammatory bowel disease with pancolitis, perianal disease (ulceration, fistulae), recurrent respiratory, genitourinary and cutaneous infections, arthritis and a high risk of B-cell lymphoma." "" + "lung cancer susceptibility 3" "" + "retinitis pigmentosa 46" "Any retinitis pigmentosa in which the cause of the disease is a mutation in the IDH3B gene." "" + "chromosome 17P13.3, telomeric, duplication syndrome" "" + "amyotrophic lateral sclerosis type 11" "Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the FIG4 gene." "" + "intellectual disability, autosomal dominant 3" "Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the CDH15 gene." "" + "intellectual disability, autosomal dominant 4" "Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the KIRREL3 gene." "" + "chromosome 6pter-p24 deletion syndrome" "Distal monosomy 6p is responsible for a distinct chromosome deletion syndrome with a recognizable clinical picture including intellectual deficit, ocular abnormalities, hearing loss, and facial dysmorphism." "" + "partial deletion of the short arm of chromosome 6" "" + "aneurysm, intracranial berry, 9" "" + "aneurysm, intracranial berry, 10" "" + "colorectal cancer, susceptibility to, 8" "" + "colorectal cancer, susceptibility to, 9" "" + "colorectal cancer, susceptibility to, 10" "Any colorectal cancer in which the cause of the disease is a mutation in the POLD1 gene." "" + "colorectal cancer, susceptibility to, 11" "" + "lung cancer susceptibility 4" "" + "multiple sclerosis, susceptibility to, 2" "" + "multiple sclerosis, susceptibility to, 3" "" + "multiple sclerosis, susceptibility to, 4" "" + "psoriasis 11, susceptibility to" "" + "intellectual disability, autosomal dominant 5" "Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the SYNGAP1 gene." "" + "type 1 diabetes mellitus 23" "A type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 4q27." "" + "microvascular complications of diabetes, susceptibility to, 2" "Any microvascular complications of diabetes, susceptibility in which the cause of the disease is a mutation in the EPO gene." "" + "microvascular complications of diabetes, susceptibility to, 3" "Any microvascular complications of diabetes, susceptibility in which the cause of the disease is a mutation in the ACE gene." "" + "chromosome 15q26-qter deletion syndrome" "Distal monosomy 15q is a rare chromosomal anomaly syndrome characterized by pre- and postnatal growth restriction, developmental delay, variable degrees of intellectual disability, hand and foot anomalies (e.g. brachy-/clinodactyly, talipes equinovarus, nail hypoplasia, proximally placed digits) and mild craniofacial dysmorphism (incl. microcephaly, triangular face, broad nasal bridge, micrognathia). Neonatal lymphedema, heart malformations, aplasia cutis congenita, aortic root dilatation, and autistic spectrum disorder have also been reported." "" + "seizures, benign familial infantile, 4" "" + "microvascular complications of diabetes, susceptibility to, 4" "Any microvascular complications of diabetes, susceptibility in which the cause of the disease is a mutation in the IL1RN gene." "" + "hemolytic anemia due to adenylate kinase deficiency" "Hemolytic anemia due to adenylate kinase deficiency is a rare hemolytic anemia due to an erythrocyte nucleotide metabolism disorder characterized by moderate to severe chronic nonspherocytic hemolytic anemia that may require regular blood transfusions and/or splenectomy and may be associated with psychomotor impairment." "" + "Usher syndrome type 1H" "An Usher syndrome type 1 that has material basis in variation in the chromosome region 15q22-q23." "" + "microvascular complications of diabetes, susceptibility to, 5" "Any microvascular complications of diabetes, susceptibility in which the cause of the disease is a mutation in the PON1 gene." "" + "microvascular complications of diabetes, susceptibility to, 6" "Any microvascular complications of diabetes, susceptibility in which the cause of the disease is a mutation in the SOD2 gene." "" + "microvascular complications of diabetes, susceptibility to, 7" "Any microvascular complications of diabetes, susceptibility in which the cause of the disease is a mutation in the HFE gene." "" + "febrile seizures, familial, 10" "" + "inflammatory bowel disease 26" "An inflammatory bowel disease that has material basis in variation in the chromosome region 12q15." "" + "autosomal dominant nonsyndromic hearing loss 59" "An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 11p14.2-q12.3." "" + "autosomal dominant nonsyndromic hearing loss 3B" "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the GJB6 gene." "" + "autosomal dominant nonsyndromic hearing loss 2B" "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the GJB3 gene." "" + "autosomal recessive nonsyndromic hearing loss 1B" "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the GJB6 gene." "" + "primary ciliary dyskinesia 11" "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the RSPH4A gene." "" + "primary ciliary dyskinesia 12" "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the RSPH9 gene." "" + "endocrine-cerebro-osteodysplasia syndrome" "Endocrine-cerebro-osteodysplasia (ECO) syndrome is characterized by various anomalies of the endocrine, cerebral, and skeletal systems resulting in neonatal mortality." "" + "hereditary spherocytosis type 4" "Any hereditary spherocytosis in which the cause of the disease is a mutation in the SLC4A1 gene." "" + "episodic ataxia type 6" "Episodic ataxia type 6 (EA6) is an exceedingly rare form of Hereditary episodic ataxia with varying degrees of ataxia and associated findings including slurred speech, headache, confusion and hemiplegia." "" + "cone-rod dystrophy 12" "Any cone-rod dystrophy in which the cause of the disease is a mutation in the PROM1 gene." "" + "PHARC syndrome" "Fiskerstrand type peripheral neuropathy is a slowly-progressive Refsum-like disorder associating signs of peripheral neuropathy with late-onset hearing loss, cataract and pigmentary retinopathy that become evident during the third decade of life." "" + "disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement" "True" + "hereditary spherocytosis type 5" "Any hereditary spherocytosis in which the cause of the disease is a mutation in the EPB42 gene." "" + "bilateral parasagittal parieto-occipital polymicrogyria" "" + "agammaglobulinemia 6, autosomal recessive" "Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the CD79B gene." "" + "hypogonadotropic hypogonadism 6 with or without anosmia" "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FGF8 gene." "" + "microcephaly 7, primary, autosomal recessive" "Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the STIL gene." "" + "Leber congenital amaurosis 13" "Any Leber congenital amaurosis in which the cause of the disease is a mutation in the RDH12 gene." "" + "Kahrizi syndrome" "An autosomal recessive disease that is characterized by mental retardation, cataracts, coloboma, kyphosis, and coarse facial features and has material basis in mutation in the SRD5A3 gene." "" + "pancreatic insufficiency-anemia-hyperostosis syndrome" "This syndrome is characterized by exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis." "" + "dyschromatosis universalis hereditaria 2" "" + "dopa-responsive dystonia due to sepiapterin reductase deficiency" "Dopa responsive dystonia (DRD) due to sepiapterin reductase deficiency (SRD) is a very rare neurometabolic disorder characterized by dystonia with diurnal fluctuations, axial hypotonia, oculogyric crises, and delays in motor and cognitive development." "" + "myopia 15, autosomal dominant" "" + "AGAT deficiency" "L-Arginine:glycine amidinotransferase (AGAT) deficiency is a very rare type of creatine deficiency sydrome characterized by global developmental delay, intellectual disability, and myopathy." "" + "creatine biosynthetic process disease" "A disease that has its basis in the disruption of creatine biosynthetic process." "" + "cholestasis-pigmentary retinopathy-cleft palate syndrome" "Cholestasis- pigmentary retinopathy- cleft palate is a syndrome of multiple congenital malformations, characterized by an association of cleft lip and palate, patchy pigmentary retinopathy (cat's paw), obstructive liver disease (cholestasis, portal hypertension etc.) and obstructive renal disease (ectopic ureteric insertion, obstruction, vesicouretral reflux and hydronephrosis). Gastrointestinal tract involvement (malrotation, gastresophageal reflux etc.) and cardiac involvement (coarctation of aorta, pulmonary artery stenosis etc) have also been reported. An overlap with Kabuki syndrome is debated." "" + "faciocardiomelic syndrome" "" + "guanidinoacetate methyltransferase deficiency" "Guanidinoacetate methyltransferase (GAMT) deficiency is a creatine deficiency syndrome characterized by global developmental delay/intellectual disability (DD/ID), prominent speech delay, autistic/hyperactive behavioral disorders, seizures, and various types of pyramidal and/or extra-pyramidal manifestations." "" + "porphyria due to ALA dehydratase deficiency" "Porphyria of doss or deficiency of delta-aminolevulinic acid dehydratase (DALAD) is an extremely rare form of acute hepatic porphyria characterized by neuro-visceral attacks without cutaneous manifestations." "" + "obsolete synesthesia" "" "true" + "cone-rod dystrophy 9" "Any cone-rod dystrophy in which the cause of the disease is a mutation in the ADAM9 gene." "" + "isolated congenital hypoglossia/aglossia" "Isolated aglossia and hypoglossia are terms covering the spectrum from partial to total absence of the tongue. These congenital malformations have been classified as part of the group of oromandibular-limb hypogenesis syndromes (OLHS)." "" + "hypoglossia/aglossia" "" + "hypotonia, seizures, and precocious puberty" "" + "EAST syndrome" "SeSAME syndrome is characterized by seizures, sensorineural deafness, ataxia, intellectual deficit, and electrolyte imbalance (hypokalemia, metabolic alkalosis, and hypomagnesemia)." "" + "isolated growth hormone deficiency type IB" "An isolated growth hormone deficiency characterized by autosomal recessive inheritance of low but detectable levels of GH, short stature, significantly retarded bone age, and a positive response and immunologic tolerance to growth hormone therapy that has material basis in mutation in the GH1 or GHRHR genes on chromosomes 17q23.3 and 7p14.3, respectively." "" + "combined immunodeficiency due to ORAI1 deficiency" "A form of combined immunodeficiency due to Calcium release activated Ca2+ (CRAC) channel dysfunction characterized by recurrent infections, congenital myopathy, ectodermal dysplasia and anhydrosis." "" + "combined immunodeficiency due to CRAC channel dysfunction" "A form of combined immunodeficiency characterized by recurrent infections, autoimmunity, congenital myopathy and ectodermal dysplasia. It comprises two sub-types that are due to mutations in the ORAI1 and STIM1 genes: CID due to ORAI1 deficiency and CID due to STIM1 deficiency." "" + "combined immunodeficiency due to STIM1 deficiency" "Aform of combined immunodeficiency due to Calcium release activated Ca2+(CRAC) channel dysfunction characterized by recurrent infections, autoimmunity, congenital myopathy and ectodermal dysplasia." "" + "Megarbane-Jalkh syndrome" "" + "autosomal recessive nonsyndromic hearing loss 71" "An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 8p22-p21.3." "" + "atrial septal defect 5" "Any atrial heart septal defect in which the cause of the disease is a mutation in the ACTC1 gene." "" + "inflammatory bowel disease 27" "An inflammatory bowel disease that has material basis in variation in the chromosome region 13q13.3" "" + "question mark ears, isolated" "" + "spondyloepimetaphyseal dysplasia, aggrecan type" "Spondyloepimetaphyseal dysplasia, aggrecan type is a new form of skeletal dysplasia characterized by severe short stature, facial dysmorphism and characteristic radiographic findings." "" + "Brugada syndrome 5" "Any Brugada syndrome in which the cause of the disease is a mutation in the SCN1B gene." "" + "leukocyte adhesion deficiency 3" "Leukocyte adhesion deficiency type III (LAD-III) is a form of LAD characterized by both severe bacterial infections and a severe bleeding disorder." "" + "hypotrichosis 5" "A hypotrichosis that has material basis in a mutation on chromosome 1p21.1-q21.3." "" + "keratosis follicularis spinulosa decalvans, autosomal dominant" "" + "obsolete spondyloepimetaphyseal dysplasia, Pakistani type" "" "true" + "narcolepsy 5, susceptibility to" "" + "sterile multifocal osteomyelitis with periostitis and pustulosis" "An autoinflammatory disease caused by mutations in the IL1RN gene, which encodes the IL1 receptor antagonist. It presents in infancy, and is characterized by systemic inflammation, pustular rash, bone pain, sterile osteitis, and periostitis." "" + "restless legs syndrome, susceptibility to, 7" "" + "orofacial cleft 12" "" + "chronic thromboembolic pulmonary hypertension" "Chronic thromboembolic pulmonary hypertension (CTEPH) is characterized by the persistence of thromboemboli in the form of organized tissue obstructing the pulmonary arteries. The consequence is an increase in pulmonary vascular resistance (PVR) resulting in pulmonary hypertension (PH) and progressive right heart failure." "" + "chromosome 6q24-q25 deletion syndrome" "6q25 microdeletion syndrome is a recently described syndrome characterized by developmental delay, facial dysmorphism and hearing loss." "" + "partial deletion of the long arm of chromosome 6" "Chromosome 6q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 6. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 6q deletion include developmental delay, intellectual disability, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person." "" + "subepithelial mucinous corneal dystrophy" "Subepithelial mucinous corneal dystrophy (SMCD) is a very rare form of superficial corneal dystrophy characterized by frequent recurrent corneal erosions in the first decade of life, with progressive loss of vision." "" + "posterior amorphous corneal dystrophy" "Posterior amorphous corneal dystrophy (PACD) is a very rare form of stromal corneal dystrophy characterized by irregular amorphous sheet-like opacities in the posterior corneal stroma and in Descemet membrane and mildly impaired vision." "" + "adenosine monophosphate deaminase deficiency" "Adenosine monophosphate (AMP) deaminase deficiency is a metabolic disorder for which two forms have been described. Lack of activity of the erythrocyte isoform of AMP deaminase has been described in subjects with low plasma uric acid levels without obvious clinical relevance and will not be described further. Myoadenylate deaminase deficiency is an inherited disorder of muscular energy metabolism with a lack of AMP deaminase activity in skeletal muscle. It is characterised by exercise-induced muscle pain, cramps and/or early fatigue." "" + "cerebellar ataxia type 9" "" + "dilated cardiomyopathy 1BB" "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the DSG2 gene." "" + "chromosome 5Q14.3 deletion syndrome, distal" "" + "epilepsy, idiopathic generalized, susceptibility to, 8" "Any generalised epilepsy in which the cause of the disease is a mutation in the CASR gene." "" + "cerebral palsy, spastic quadriplegic, 2" "Any spastic quadriplegia in which the cause of the disease is a mutation in the KANK1 gene." "" + "spastic quadriplegic cerebral palsy" "A type of spastic cerebral palsy characterized by increased muscle tone of all four extremities." "" + "keratosis palmoplantaris striata 2" "Any striate palmoplantar keratoderma in which the cause of the disease is a mutation in the DSP gene." "" + "orofaciodigital syndrome XI" "Orofaciodigital syndrome type 11 is an extremely rare, sporadic form of Orofaciodigital syndrome (OFDS) with only a few reported cases, and characterized by facial (blepharophimosis, bulbous nasal tip, broad nasal bridge, downslanting palpebral fissures and low set ears) and skeletal (post-axial polydactyly and fusion of vertebrae) malformations along with severe intellectual disability, deafness and congenital heart defects." "" + "Zechi-Ceide syndrome" "" + "Giacheti syndrome" "" + "CLOVES syndrome" "CLOVE syndrome is characterized by Congenital Lipomatous Overgrowth, progressive, complex and mixed truncal Vascular malformations, and Epidermal nevi." "" + "3M syndrome 2" "Any 3-M syndrome in which the cause of the disease is a mutation in the OBSL1 gene." "" + "atypical hemolytic-uremic syndrome with MCP/CD46 anomaly" "" + "atypical hemolytic-uremic syndrome with I factor anomaly" "" + "atypical hemolytic-uremic syndrome with B factor anomaly" "" + "atypical hemolytic-uremic syndrome with C3 anomaly" "" + "atypical hemolytic-uremic syndrome with thrombomodulin anomaly" "" + "mycobacterium tuberculosis, susceptibility to, 3" "" + "glycogen storage disease due to muscle beta-enolase deficiency" "Muscle beta-enolase deficiency is a glycolysis disorder reported in one patient to date and characterized clinically by exercise intolerance and myalgia due to severe enolase deficiency in muscle." "" + "glycogen storage disease due to lactate dehydrogenase M-subunit deficiency" "A condition that affects how the body breaks down sugar to use as energy in muscle cells. People withthis conditionexperience fatigue, muscle pain, and cramps during exercise (exercise intolerance). In some people,high-intensity exercise or other strenuous activity leads to the breakdown of muscle tissue (rhabdomyolysis), which can lead to myoglobinuria (rust-colored urine indicating breakdown of muscle tissue) and kidney damage. A skin rash may also develop. The severity of the signs and symptoms varies greatly among affected individuals. Lactate dehydrogenase A deficiency is caused by mutations in the LDHA gene. This condition is inherited in an autosomal recessive pattern." "" + "glycogen storage disease due to lactate dehydrogenase deficiency" "" + "hereditary spastic paraplegia 50" "Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the AP4M1 gene." "" + "AP4-related intellectual disability and spastic paraplegia" "A disorder that presents with spastic paraplegia and intellectual disability in which the cause of the disease is a mutation in the AP4B1 gene." "" + "DPM3-CDG" "DPM3-CDG is an extremely rare form of CDG syndrome characterized clinically in the single reported case by muscle weakness, waddling gait and dilated cardiomyopathy." "" + "lethal polymalformative syndrome, Boissel type" "" + "autosomal recessive cutis laxa type 2B" "Autosomal recessive cutis laxa type 2B is a rare, hereditary, developmental defect with connective tissue involvement characterized by cutis laxa of variable severity, in utero growth restriction, congenital hip dislocation and joint hyperlaxity, wrinkling of the skin, in particular the dorsum of hands and feet, and progeroid facial features. Hypotonia, developmental delay, and intellectual disability are common. In addition, cataracts, corneal clouding, wormian bones, lipodystrophy and osteopenia have been reported." "" + "autosomal recessive cutis laxa type 2" "Autosomal recessive cutis laxa, type 2 (ARCL2) appears to cover a spectrum of connective tissue disorders characterized by the association of wrinkled, redundant and sagging inelastic skin with growth and developmental delay, and skeletal anomalies. The spectrum ranges from patients with classic ARCL2 (ARCL, DebrC) type) to patients with a milder form of the disease, wrinkled skin syndrome (WSS)." "" + "retinitis pigmentosa 42" "Any retinitis pigmentosa in which the cause of the disease is a mutation in the KLHL7 gene." "" + "microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type" "Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type is a rare syndrome with cardiac malformations, characterized by prenatal-onset growth retardation (low birth weight and short stature), hypotonia, developmental delay and intellectual disability associated with microcephaly and craniofacial (low anterior hairline, hypotelorism, thick lips with carp-shaped mouth, high-arched palate, low-set ears), cardiac (conotruncal heart malformations such as tetralogy of Fallot) and skeletal (hypoplastic thumbs and first metacarpals) abnormalities." "" + "microcephaly, growth retardation, cataract, hearing loss, and unusual appearance" "" + "Stargardt macular degeneration, absent or hypoplastic corpus callosum, intellectual disability, and dysmorphic features" "" + "developmental and epileptic encephalopathy, 39" "A rare mitochondrial substrate carrier disorder characterized by severe muscular hypotonia, seizures (with or without episodic apnea) beginning in the first year of life, and arrested psychomotor development (affecting mainly motor skills). Severe spasticity with hyperreflexia has also been reported. Global cerebral hypomyelination is a characteristic imaging feature of this disease." "" + "neonatal-onset developmental and epileptic encephalopathy" "A complex neurodevelopmental disorder characterized by a neonatal onset of recurrent seizures, an abnormal neonatal electroencephalographic background with multifocal epileptiform discharges, excessive discontinuity, and/or burst-suppression patterns, and encephalopathy. Seizures may be pharmacoresistant or responsive. Developmental delays persist but vary in severity. In some individuals, subsequent evolution to other epileptic encephalopathy syndromes (e.g. West syndrome) may occur." "" + "psoriasis 12, susceptibility to" "" + "cystic leukoencephalopathy without megalencephaly" "Cystic leukoencephalopathy without megalencephaly is characterised by non-progressive leukoencephalopathy, bilateral cysts in the anterior part of the temporal lobe, cerebral white matter anomalies and severe psychomotor impairment. Less than 50 patients have been described in the literature so far. Inheritance is most likely autosomal recessive." "" + "Aicardi-Goutieres syndrome 5" "Any Aicardi-Goutieres syndrome in which the cause of the disease is a mutation in the SAMHD1 gene." "" + "autosomal recessive Parkinson disease 14" "A rare neurodegenerative disease usually presenting before the age of 30 and which is characterized by dystonia, L-dopa-responsive parkinsonism, pyramidal signs and rapid cognitive decline." "" + "myofibrillar myopathy 6" "Selcen type muscular dystrophy is characterized by progressive limb and axial muscle weakness associated with cardiomyopathy and severe respiratory insufficiency during adolescence. The disease manifests during childhood and progresses rapidly." "" + "long QT syndrome 12" "Any long QT syndrome in which the cause of the disease is a mutation in the SNTA1 gene." "" + "ventricular fibrillation, paroxysmal familial, 2" "Any ventricular fibrillation in which the cause of the disease is a mutation in the DPP6 gene." "" + "multiple synostoses syndrome 3" "Any multiple synostoses syndrome in which the cause of the disease is a mutation in the FGF9 gene." "" + "premature ovarian failure 7" "Any primary ovarian failure in which the cause of the disease is a mutation in the NR5A1 gene." "" + "46,XY sex reversal 3" "" + "cataract 34 multiple types" "Any cataract (disease) in which the cause of the disease is a mutation in the FOXE3 gene." "" + "age-related hearing impairment 2" "" + "autosomal recessive optic atrophy, OPA7 type" "" + "spermatogenic failure 7" "" + "Emery-Dreifuss muscular dystrophy 4, autosomal dominant" "Any autosomal dominant Emery-Dreifuss muscular dystrophy in which the cause of the disease is a mutation in the SYNE1 gene." "" + "autosomal dominant Emery-Dreifuss muscular dystrophy" "Autosomal dominant form of Emery-Dreifuss muscular dystrophy." "" + "Emery-Dreifuss muscular dystrophy 5, autosomal dominant" "Any autosomal dominant Emery-Dreifuss muscular dystrophy in which the cause of the disease is a mutation in the SYNE2 gene." "" + "palmoplantar keratoderma, nonepidermolytic, focal 1" "Any nonepidermolytic palmoplantar keratoderma in which the cause of the disease is a mutation in the KRT16 gene." "" + "encephalocraniocutaneous lipomatosis" "A rare neoplastic syndrome characterized by the presence of unilateral lipomas of the cranium, face and neck, and ipsilateral cerebral malformations." "" + "herpes simplex encephalitis, susceptibility to, 2" "" + "postinfectious encephalitis" "" + "attention deficit-hyperactivity disorder, susceptibility to, 7" "" + "Santos syndrome" "" + "type 1 diabetes mellitus 24" "A type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 10q23.31." "" + "primary biliary cholangitis 2" "" + "primary biliary cholangitis 3" "" + "lymphoproliferative syndrome 1" "A condition of decreased or absent presence or activity of IL2-inducible t-cell kinase. Deficiency of this protein is associated with lymphoproliferative syndrome 1, an autosomal recessive primary immunodeficiency characterized by onset in early childhood of Epstein-Barr virus (EBV)-associated immune dysregulation, manifest as lymphoma, lymphomatoid granulomatosis, hemophagocytic lymphohistiocytosis, Hodgkin disease, and/or hypogammaglobulinemia.." "" + "autosomal recessive lymphoproliferative disease" "A rare combined T and B cell immunodeficiency with a predisposition to lymphoproliferative syndrome. It is characterized by persistent symptomatic EBV-viremia and hypogammaglobulinemia variably presenting with fever, lymphadenopathy and systemic inflammatory conditions including hepatitis, pneumonia and sepsis. It may be associated with lymphoma, hemophagocytic lymphohistiocytosis, and aplastic anemia." "" + "Hirschsprung disease-ganglioneuroblastoma syndrome" "" + "neuroblastoma, susceptibility to, 3" "Any neuroblastoma in which the cause of the disease is a mutation in the ALK gene." "" + "neuroblastoma, susceptibility to, 4" "" + "neuroblastoma, susceptibility to, 5" "" + "neuroblastoma, susceptibility to, 6" "" + "bronchiectasis with or without elevated sweat chloride 2" "Any bronchiectasis in which the cause of the disease is a mutation in the SCNN1A gene." "" + "follicular lymphoma, susceptibility to, 1" "" + "follicular lymphoma" "Follicular lymphoma is a form of non-Hodgkin lymphoma characterized by a proliferation of B cells whose nodular structure of follicular architecture is preserved." "" + "schizophrenia 13" "A schizophrenia that has material basis in a mutation on chromosome 15q13." "" + "chromosome 19q13.11 deletion syndrome" "The 19q13.11 microdeletion is characterized by several major features including pre and postnatal growth retardation, slender habitus, severe postnatal feeding difficulties, microcephaly, intellectual deficit with speech disturbance, hypospadias and ectodermal dysplasia presented by scalp aplasia, thin and sparse hair, eyebrows and eyelashes, thin and dry skin and dysplasic nails." "" + "partial deletion of the long arm of chromosome 19" "" + "glycogen storage disease IXc" "A liver PhK deficiency caused by variants in the PHKG2 gene" "" + "glioma susceptibility 2" "Any malignant glioma in which the cause of the disease is a mutation in the PTEN gene." "" + "glioma susceptibility 3" "Any malignant glioma in which the cause of the disease is a mutation in the BRCA2 gene." "" + "glioma susceptibility 5" "" + "glioma susceptibility 6" "" + "glioma susceptibility 7" "" + "glioma susceptibility 8" "" + "noise induced hearing loss" "A condition in which a person loses the ability to hear due to exposure to high intensity sound." "" + "atrial fibrillation, familial, 8" "" + "basal cell carcinoma, susceptibility to, 2" "" + "basal cell carcinoma, susceptibility to, 3" "" + "epilepsy, idiopathic generalized, susceptibility to, 10" "An inherited susceptibility or predisposition to developing epilepsy, idiopathic generalized, in which the cause of the disease is a mutation in the GABRD gene." "" + "basal cell carcinoma, susceptibility to, 4" "" + "basal cell carcinoma, susceptibility to, 5" "" + "basal cell carcinoma, susceptibility to, 6" "" + "atopic dermatitis 7" "An atopic dermatitis associated with variation in the region 11q13.5." "" + "leukemia, acute lymphocytic, susceptibility to, 1" "" + "leukemia, acute lymphocytic, susceptibility to, 2" "" + "neurodegenerative syndrome due to cerebral folate transport deficiency" "" + "acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins" "Acute infantile liver failure due to mtDNA-encoded proteins synthesis defect is a very rare mitochondrial respiratory chain deficiency described in fewer than 10 infants, primarily of middle Eastern descent, and characterized clinically by transient but life-threatening liver failure with elevated liver enzymes, jaundice, vomiting, coagulopathy, hyperbilirubinemia, and lactic acidemia." "" + "bronchiectasis with or without elevated sweat chloride 3" "Any bronchiectasis in which the cause of the disease is a mutation in the SCNN1G gene." "" + "metaphyseal anadysplasia 2" "Any metaphyseal anadysplasia in which the cause of the disease is a mutation in the MMP9 gene." "" + "metaphyseal anadysplasia" "Metaphyseal anadysplasia is a very rare form of metaphyseal dysplasia characterized by short stature, rhizomelic micromelia and a mild varus deformity of the legs evident from the first months of life, that is associated with radiological features of severe metaphyseal changes (irregularities, widening and marginal blurring) in long bones, most prominent in proximal femurs, and generalized osteopenia, and that usually spontaneously resolves by the age of three years. Severe autosomal dominant and milder recessive variants have been observed." "" + "autosomal dominant nonsyndromic hearing loss 50" "An autosomal dominant nonsyndromic deafness that is characterized postlingual onset in the second decade of life with flat progressive hearing loss and has material basis in mutation in the MIRN96 gene on chromosome 7q32." "" + "RIN2 syndrome" "RIN2 syndrome, formerly known as macrocephaly, alopecia, cutis laxa and scoliosis (MACS) syndrome, is a very rare inherited connective tissue disorder characterized by macrocephaly, sparse scalp hair, soft-redundant and hyperextensible skin, joint hypermobility, and scoliosis. Patients have progressive facial coarsening with downslanted palpebral fissures, upper eyelid fullness/infraorbital folds, thick/everted vermillion, gingival overgrowth and abnormal position of the teeth. Rarer manifestations such as abnormal high-pitched voice, bronchiectasis, hypergonadotropic hypergonadism and brachydactyly have also been reported." "" + "congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome" "" + "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5" "Any progressive external ophthalmoplegia with mitochondrial DNA deletions in which the cause of the disease is a mutation in the RRM2B gene." "" + "Nijmegen breakage syndrome-like disorder" "Nijmegen breakage syndrome-like disorder is a rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by growth retardation, short stature, developmental delay, intellectual disability, craniofacial dysmorphism (i.e. severe microcephaly, sloping forehead, prominent eyes, broad nasal ridge, hypoplastic nasal septum, epicanthal folds), spontaneous chromosomal instability, cellular hypersensitivity to ionizing radiation and radioresistant DNA synthesis, without severe infections, immunodeficiency or cancer predisposition. Additional reported features include mild spasticity, slight and nonprogressive ataxia, hyperopia, multiple pigmented nevi, widely spaced nipples, and clinodactyly." "" + "autosomal recessive nonsyndromic hearing loss 77" "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the LOXHD1 gene." "" + "46,XY sex reversal 5" "" + "glaucoma 3, primary congenital, C" "" + "glaucoma 3, primary congenital, D" "" + "atrial septal defect 6" "Any atrial heart septal defect in which the cause of the disease is a mutation in the TLL1 gene." "" + "pelvic organ prolapse, susceptibility to, 2" "" + "CLAPO syndrome" "CLAPO syndrome is a newly described syndrome consisting of capillary malformation of the lower lip (C), lymphatic malformation of the face and neck (L), asymmetry of face and limbs (A) and partial or generalized overgrowth (O)." "" + "obsolete Bartter syndrome, type 4B" "" "true" + "asphyxiating thoracic dystrophy 3" "An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the DYNC2H1 gene on chromosome 11q22." "" + "short rib-polydactyly syndrome, Verma-Naumoff type" "Short rib-polydactyly syndrome, Verma-Naumoff type is a short rib-polydactyly syndrome, characterized by short limb dwarfism, short ribs with thoracic dysplasia, postaxial polydactyly and protuberant abdomen. Associated multiple malformations include cardiovascular defects, renal agenesis /hypoplasia, anormal clocal development (ambiguous genitalia, anal atresia) and cerebellar hypoplasia. Short rib-polydactyly syndrome, Verma-Naumoff type follows an autosomal recessive mode of transmission. The disease is usually fatal in the perinatal period." "" + "familial juvenile hyperuricemic nephropathy type 2" "Familial juvenile hyperuricemic nephropathy type 2 is a rare autosomal dominantly inherited disease of childhood characterized by hypoproliferative anemia, hyperuricemia and slowly progressing kidney failure due to dysregulation of the renin-angiotensin system (RAS)." "" + "cone dystrophy 4" "Any cone dystrophy in which the cause of the disease is a mutation in the PDE6C gene." "" + "isolated microphthalmia 4" "Any isolated microphthalmia in which the cause of the disease is a mutation in the GDF6 gene." "" + "polycystic kidney disease 2" "Autosomal dominant polycystic kidney disease caused by a mutation in PKD2." "" + "hereditary spastic paraplegia 36" "Autosomal dominant spastic paraplegia type 36 (SPG36) is a complex form of hereditary spastic paraplegia, characterized by an onset in childhood or adulthood of progressive spastic paraplegia (with spastic gait, spasticity, lower limb weakness, pes cavus and urinary urgency) associated with the additional manifestation of peripheral sensorimotor neuropathy." "" + "melanoma, cutaneous malignant, susceptibility to, 5" "" + "glaucoma 1, open angle, O" "Any open-angle glaucoma in which the cause of the disease is a mutation in the NTF4 gene." "" + "familial hemophagocytic lymphohistiocytosis 5" "Any genetic hemophagocytic lymphohistiocytosis in which the cause of the disease is a mutation in the STXBP2 gene." "" + "hereditary hypotrichosis with recurrent skin vesicles" "Hereditary hypotrichosis with recurrent skin vesicles is a very rare inherited hair loss disorder described in a family and characterized by sparse, fragile or absent hair on the scalp, eyebrows, eyelashes, axillae and rest of the body, associated with vesicle formation on various parts of the scalp and body which regularly burst and release watery fluid." "" + "choroidal dystrophy, central areolar 2" "Any central areolar choroidal dystrophy in which the cause of the disease is a mutation in the PRPH2 gene." "" + "vertigo, benign recurrent, 2" "" + "neutropenia, severe congenital, 2, autosomal dominant" "Any autosomal dominant severe congenital neutropenia in which the cause of the disease is a mutation in the GFI1 gene." "" + "candidiasis, familial, 4" "Any familial chronic mucocutaneous candidiasis in which the cause of the disease is a mutation in the CLEC7A gene." "" + "autosomal dominant macrothrombocytopenia TUBB1-related" "Any autosomal dominant macrothrombocytopenia in which the cause of the disease is a mutation in the TUBB1 gene." "" + "autosomal dominant macrothrombocytopenia" "This syndrome is characterized by congenital thrombocytopenia associated with the presence of large platelets." "" + "neuropathy, hereditary sensory and autonomic, type 2B" "Any hereditary sensory and autonomic neuropathy type 2 in which the cause of the disease is a mutation in the RETREG1 gene." "" + "hereditary sensory and autonomic neuropathy type 2" "Hereditary sensory and autonomic neuropathy, type 2 (HSAN2) is an inherited disorder characterized by profound and universal sensory loss involving large and small fiber nerves, and marked hypotonia." "" + "hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency" "" + "antithrombin III deficiency" "A rare disorder characterized by the presence of low levels of antithrombin III which prohibits the formation of blood clots. It may be inherited, usually in an autosomal dominant pattern, or acquired. It may lead to venous thrombosis and pulmonary embolism." "" + "Brugada syndrome 6" "Any Brugada syndrome in which the cause of the disease is a mutation in the KCNE3 gene." "" + "Brugada syndrome 7" "Any Brugada syndrome in which the cause of the disease is a mutation in the SCN3B gene." "" + "dilated cardiomyopathy 1CC" "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the NEXN gene." "" + "Brugada syndrome 8" "Any Brugada syndrome in which the cause of the disease is a mutation in the HCN4 gene." "" + "hydrops fetalis, nonimmune, with gracile bones and dysmorphic features" "" + "parkinsonism-dystonia, infantile" "Infantile dystonia-parkinsonism (IPD) is an extremely rare inherited neurological syndrome that presents in early infancy with hypokinetic parkinsonism and dystonia and that can be fatal." "" + "choroidal dystrophy, central areolar, 3" "" + "systemic lupus erythematosus, susceptibility to, 14" "" + "inflammatory bowel disease 28" "Any inflammatory bowel disease in which the cause of the disease is a mutation in the IL10RA gene." "" + "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2" "An autosomal recessive muscular dystrophy caused by mutations in the POMT2 gene. It is associated with characteristic brain and eye malformations and profound mental retardation." "" + "myopathy caused by variation in POMT2" "Any myopathy in which the cause of the disease is a variation in the POMT2 gene." "" + "muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3" "" + "congenital muscular dystrophy with cerebellar involvement" "" + "muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4" "" + "congenital muscular dystrophy without intellectual disability" "" + "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5" "" + "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6" "An autosomal recessive muscular dystrophy caused by mutations in the LARGE gene. It is associated with characteristic brain and eye malformations, profound mental retardation, and death usually in the first years of life." "" + "muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1" "" + "muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2" "An autosomal recessive inherited congenital muscular dystrophy caused by mutations in the POMT2 gene. It is characterized by mental retardation and mild structural brain abnormalities resulting from defective glycosylation of alpha-dystroglycan." "" + "autosomal recessive limb-girdle muscular dystrophy type 2O" "Autosomal recessive limb-girdle muscular dystrophy type 2O (LGMD2O) is a form of limb-girdle muscular dystrophy characterized by an onset in childhood or adolescence of rapidly progressive proximal limb muscle weakness (particularly affecting the neck, hip girdle, and shoulder abductors), hypertrophy in the calves and quadriceps, ankle contractures, and myopia." "" + "autosomal recessive limb-girdle muscular dystrophy type 2N" "Autosomal recessive limb-girdle muscular dystrophy type 2N (LGMD2N) is a form of limb-girdle muscular dystrophy characterized by proximal weakness (manifesting as slowness in running) presenting in infancy, along with calf hypertrophy, mild lordosis, scapular winging and normal intelligence or mild intellectual disability." "" + "nephronophthisis-like nephropathy 1" "Any nephronophthisis in which the cause of the disease is a mutation in the XPNPEP3 gene." "" + "beta-ureidopropionase deficiency" "Beta-ureidopropionase deficiency is a very rare pyrimidine metabolism disorder described in fewer than 10 patients to date with an extremely wide clinical picture ranging from asymptomatic cases to neurological (epilepsy, autism) and developmental disorders (urogenital, colorectal)." "" + "hereditary spastic paraplegia 45" "Autosomal recessive spastic paraplegia type 45 is a rare, pure or complex form of hereditary spastic paraplegia characterized by onset in infancy of progressive lower limb spasticity, abnormal gait, increased deep tendon reflexes and extensor plantar responses, that may be associated with intellectual disability. Additional signs, such as contractures in the lower limbs, amyotrophy, clubfoot and optic atrophy, have also been reported." "" + "GABA aminotransferase deficiency" "Gamma-aminobutyric acid transaminase (GABA-T) deficiency is an extremely rare disorder of GABA metabolism characterized by a severe neonatal-infantile epileptic encephalopathy (manifesting with symptoms such as seizures, hypotonia, hyperreflexia and developmental delay) and growth acceleration." "" + "disorder of beta and omega amino acid metabolism" "" + "parkinson disease 16" "" + "dilated cardiomyopathy 1DD" "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the RBM20 gene." "" + "chromosome 5p13 duplication syndrome" "5p13 microduplication syndrome is a rare partial autosomal trisomy/tetrasomy characterized by global developmental delay, intellectual disability, autistic behavior, muscular hypotonia, macrocephaly and facial dysmorphism (frontal bossing, short palpebral fissures, low set, dysplastic ears, short or shallow philtrum, high arched or narrow palate, micrognathia). Other associated clinical features include sleep disturbances, seizures, aplasia/hypoplasia of the corpus callosum, skeletal abnormalities (large hands and feet, long fingers and toes, talipes)." "" + "partial trisomy/tetrasomy of the short arm of chromosome 5" "" + "cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies" "A autosomal recessive cutis laxa type I that has material basis in homozygous or compound heterozygous mutation in the LTBP4 gene on chromosome 19q13" "" + "purine nucleoside phosphorylase deficiency" "Purine nucleoside phosphorylase (PNP) deficiency is a disorder of purine metabolism characterized by progressive immunodeficiency leading to recurrent and opportunistic infections, autoimmunity and malignancy as well as neurologic manifestations." "" + "polymicrogyria with optic nerve hypoplasia" "A rare genetic syndrome with central nervous system malformations characterized by severe developmental delay, neonatal hypotonia, seizures, optic nerve hypoplasia and distinct central nervous system malformations including extensive bilateral polymicrogyria, dysplastic or absent corpus callosum and malformed brainstem with loss of demarcation of the pontomedullary junction." "" + "cerebral malformation with epilepsy" "True" + "intellectual disability, autosomal recessive 13" "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the TRAPPC9 gene." "" + "primary ciliary dyskinesia 13" "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAAF1 gene." "" + "retinitis pigmentosa 50" "Any retinitis pigmentosa in which the cause of the disease is a mutation in the BEST1 gene." "" + "Weill-Marchesani 4 syndrome, recessive" "" + "congenital muscular dystrophy due to integrin alpha-7 deficiency" "Congenital muscular dystrophy with integrin alpha-7 deficiency is a rare, genetic, congenital muscular dystrophy due to extracellular matrix protein anomaly characterized by early motor development delay and muscle weakness with mild elevation of serum creatine kinase, that may be followed by progressive disease course with predominantly proximal muscle weakness and atrophy, motor development regress, scoliosis and respiratory insufficiency." "" + "qualitative or quantitative defects of integrin alpha-7" "" + "congenital muscular dystrophy due to LMNA mutation" "Congenital muscular dystrophy due to LMNA mutation is a rare congenital muscular dystrophy characterized by prominent axial hypotonia, dropped head syndrome, predominantly proximal muscle weakness in upper limbs/distal in lower limbs (with absent, poor or lost motor development), joint contractures (initially distal, later proximal), spine rigidity, and early respiratory insufficiency, in the presence of moderately elevated serum creatine kinase. Cardiac arrhythmias and sudden death have been also reported." "" + "hereditary spastic paraplegia 44" "A very rare, complex form of hereditary spastic paraplegia characterized by a late-onset, slowly progressive spastic paraplegia associated with mild ataxia and dysarthria, upper extremity involvement (i.e. loss of finger dexterity, dysmetria), and mild cognitive impairment, without the presence of nystagmus. A hypomyelinating leukodystrophy and thin corpus callosum is observed in all cases and psychomotor development is normal or near normal. SPG44 is caused by mutations in the GJC2 gene (1q41-q42) encoding the gap junction gamma-2 protein." "" + "asthma-related traits, susceptibility to, 8" "" + "amelogenesis imperfecta hypomaturation type 2A3" "Any amelogenesis imperfecta in which the cause of the disease is a mutation in the WDR72 gene." "" + "chromosome 17p13.3 duplication syndrome" "17p13.3 microduplication syndrome is characterized by variable psychomotor delay and dysmorphic features." "" + "congenital stationary night blindness 1C" "Any congenital stationary night blindness in which the cause of the disease is a mutation in the TRPM1 gene." "" + "congenital diarrhea 5 with tufting enteropathy" "Congenital Tufting Enteropathy is a rare congenital enteropathy presenting with early-onset severe and intractable diarrhea that leads to irreversible intestinal failure." "" + "leprosy, susceptibility to, 5" "Any leprosy in which the cause of the disease is a mutation in the TLR1 gene." "" + "Noonan syndrome 6" "Any Noonan syndrome in which the cause of the disease is a mutation in the NRAS gene." "" + "factor XIII, A subunit, deficiency of" "" + "congenital factor XIII deficiency" "Congenital factor XIII deficiency is an inherited bleeding disorder due to reduced levels and activity of factor XIII (FXIII) and characterized by hemorrhagic diathesis frequently associated with spontaneous abortions and defective wound healing. Factor XIII deficiency is one of the most rare coagulation factor deficiencies." "" + "cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3" "Any dysequilibrium syndrome in which the cause of the disease is a mutation in the CA8 gene." "" + "trichotillomania" "A disorder characterized by repetitive pulling out of one's hair resulting in noticeable hair loss; the individual experiences a rising subjective sense of tension before pulling out the hair and a sense of gratification or relief when pulling out the hair." "" + "factor XIII, b subunit, deficiency of" "" + "focal segmental glomerulosclerosis 5" "Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the INF2 gene." "" + "spondyloarthropathy, susceptibility to, 3" "" + "thyrotoxic periodic paralysis, susceptibility to, 2" "Any thyrotoxic periodic paralysis in which the cause of the disease is a mutation in the KCNJ18 gene." "" + "Pseudopili annulati" "" + "hypertrophic cardiomyopathy 13" "Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the TNNC1 gene." "" + "colorectal cancer, hereditary nonpolyposis, type 8" "Any hereditary nonpolyposis colon cancer in which the cause of the disease is a mutation in the EPCAM gene." "" + "hypertrophic cardiomyopathy 14" "Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the MYH6 gene." "" + "dilated cardiomyopathy 1EE" "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the MYH6 gene." "" + "tuberous sclerosis 2" "Tuberous sclerosis mapped to chromosome 16p13.3 (TSC2 gene)." "" + "hypertrophic cardiomyopathy 15" "Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the VCL gene." "" + "Waardenburg syndrome type 4B" "A subtype of Waardenburg syndrome type 4 (Waardenburg-Shah syndrome) caused by mutations in EDN3." "" + "Waardenburg syndrome type 4C" "A subtype of Waardenburg syndrome type 4 (Waardenburg-Shah syndrome) caused by mutations in SOX10." "" + "corneal dystrophy, Fuchs endothelial, 3" "Any Fuchs' endothelial dystrophy in which the cause of the disease is a mutation in the TCF4 gene." "" + "corneal dystrophy, Fuchs endothelial, 4" "Any Fuchs' endothelial dystrophy in which the cause of the disease is a mutation in the SLC4A11 gene." "" + "corneal dystrophy, fuchs endothelial, 5" "" + "corneal dystrophy, Fuchs endothelial, 6" "Any Fuchs' endothelial dystrophy in which the cause of the disease is a mutation in the ZEB1 gene." "" + "corneal dystrophy, fuchs endothelial, 7" "" + "cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome" "" + "disorder of manganese transport" "" + "autosomal recessive nonsyndromic hearing loss 25" "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the GRXCR1 gene." "" + "dilated cardiomyopathy 1FF" "A dilated cardiomyopathy that has material basis in mutation in the TNNI3 gene on chromosome 19q13.42." "" + "Charcot-Marie-Tooth disease axonal type 2N" "Autosomal dominant Charcot-Marie-Tooth disease type 2N (CMT2N) is a mild form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by distal legs sensory loss and weakness that can be asymmetric. Tendon reflexes are reduced in the knees and absent in ankles. Progression is slow." "" + "hearing loss, cisplatin-induced, susceptibility to" "" + "bile acid malabsorption, primary" "" + "autosomal recessive nonsyndromic hearing loss 79" "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the TPRN gene." "" + "Diamond-Blackfan anemia 9" "Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS10 gene." "" + "Diamond-Blackfan anemia 10" "Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS26 gene." "" + "exudative vitreoretinopathy 5" "Any exudative vitreoretinopathy in which the cause of the disease is a mutation in the TSPAN12 gene." "" + "TSPAN12-related vitreoretinopathy" "A vitreoretinopathy caused by variants in the TSPAN12 gene." "" + "hypophosphatemic rickets, autosomal recessive, 2" "Any autosomal recessive hypophosphatemic rickets in which the cause of the disease is a mutation in the ENPP1 gene." "" + "hemochromatosis type 2B" "Any hemochromatosis type 2 in which the cause of the disease is a mutation in the HAMP gene." "" + "Miyoshi muscular dystrophy 2" "" + "Miyoshi muscular dystrophy 3" "" + "autosomal recessive spondylometaphyseal dysplasia, Megarbane type" "Any spondylodysplastic dysplasia in which the cause of the disease is a mutation in the PAM16 gene." "" + "rhabdoid tumor predisposition syndrome 2" "Any familial rhabdoid tumor in which the cause of the disease is a mutation in the SMARCA4 gene." "" + "atypical teratoid rhabdoid tumor" "Atypical teratoid rhabdoid tumor (ATRT) is a highly malignant central nervous system (CNS) rhabdoid tumor (RT) found almost exclusively in children." "" + "congenital generalized lipodystrophy type 4" "Any congenital generalized lipodystrophy in which the cause of the disease is a mutation in the CAVIN1 gene." "" + "combined immunodeficiency with faciooculoskeletal anomalies" "Combined immunodeficiency with faciooculoskeletal anomalies is an extremely rare combined immunodeficiency disorder characterized by primary immunodeficiency manifesting with repeated bacterial, viral and fungal infections, in association with neurological manifestations (hypotonia, cerebellar ataxia, myoclonic seizures), developmental delay, optic atrophy, facial dysmorphism (high forehead, hypoplastic supraorbital ridges, palpebral edema, hypertelorism, flat nasal bridge, broad nasal root and tip, anteverted nares, thin lower lip overlapped by upper lip, square chin) and skeletal anomalies (short metacarpals/metatarsals with cone-shaped epiphyses, osteopenia)." "" + "congenital plasminogen activator inhibitor type 1 deficiency" "Congenital plasminogen activator inhibitor type 1 (PAI-1) deficiency is a rare genetic bleeding disorder characterized by premature lysis of hemostatic clots and a moderate bleeding tendency." "" + "spondylo-megaepiphyseal-metaphyseal dysplasia" "" + "hot water reflex epilepsy" "Hot water reflex epilepsy is a rare neurologic disease characterized by the onset of generalized or focal seizures following immersion of the head in hot water, or with hot water being poured over the head. Primary generalized tonic-clonic seizures have been reported in rare cases." "" + "inherited reflex epilepsy" "An instance of reflex epilepsy that is caused by an inherited modification of the individual's genome." "" + "epilepsy, hot water, 2" "" + "Leber congenital amaurosis 14" "Any Leber congenital amaurosis in which the cause of the disease is a mutation in the LRAT gene." "" + "brachydactylous dwarfism, Mseleni type" "Mseleni joint disease (MJD) is a rare and crippling chondrodysplasia, reported mainly in the Maputaland region in northern Kwazulu Natal, South Africa, characterized by a bilateral and uniform arthropathy of the joints that primarily and most severely affects the hip but that can also affect many other joints (i.e. knees, ankles, wrists, shoulders, elbows), and that manifests with pain and stiffness that progressively limits joint movement, eventually compromising a patient's ability to walk. Severe short staure and brachydactyly have been reported in a few patients with MJD." "" + "spondyloepimetaphyseal dysplasia, Handigodu type" "Spondyloepimetaphyseal dysplasia, Handigodu type is a rare, genetic, primary bone dysplasia characterized by three distinct phenotypes, namely: 1) patients of average height with painful, osteoarthritic changes of the hip joints and no spinal abnormalities, 2) short-statured patients with predominantly truncal shortening, arm span exceeding height, dyspalstic changes of hips and varying degrees of platyspondyly, and 3) patients with dwarfism, various associated skeletal abnormalities (particularly of the knees and hands) and severe epiphyseal dysplasia (of hips, knees, hands, wrists) associated with significant platyspondyly. Most patients cannot walk long distances, and many have decreased joint spaces and sclerotic and cystic changes on imaging." "" + "hypokalemic periodic paralysis, type 2" "" + "pancreatic cancer, susceptibility to, 2" "Any familial pancreatic carcinoma in which the cause of the disease is a mutation in the BRCA2 gene." "" + "familial pancreatic carcinoma" "Familial pancreatic carcinoma is defined by the presence of pancreatic cancer (PC) in two or more first-degree relatives." "" + "pancreatic cancer, susceptibility to, 3" "Any familial pancreatic carcinoma in which the cause of the disease is a mutation in the PALB2 gene." "" + "susceptibility to mononeuropathy of the median nerve, mild" "" + "chromosome 17q23.1-q23.2 deletion syndrome" "17q23.1q23.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay, microcephaly, short stature, heart defects and limb abnormalities." "" + "partial deletion of the long arm of chromosome 17" "" + "hereditary spastic paraplegia 41" "Autosomal dominant spastic paraplegia type 41 is a pure form of hereditary spastic paraplegia characterized by onset in adolescence or early adulthood of slowly progressive spastic paraplegia, proximal muscle weakness of the lower extremities and small hand muscles, hyperreflexia, spastic gait and mild urinary compromise." "" + "maturity-onset diabetes of the young type 10" "Any maturity-onset diabetes of the young in which the cause of the disease is a mutation in the INS gene." "" + "spinocerebellar ataxia type 30" "Spinocerebellar ataxia type 30 (SCA30) is a very rare subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by a slowly progressive and relatively pure ataxia." "" + "maturity-onset diabetes of the young type 11" "Any maturity-onset diabetes of the young in which the cause of the disease is a mutation in the BLK gene." "" + "neuronopathy, distal hereditary motor, type 2C" "Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the HSPB3 gene." "" + "brachydactyly type E2" "Any brachydactyly type E in which the cause of the disease is a mutation in the PTHLH gene." "" + "syndromic multisystem autoimmune disease due to ITCH deficiency" "" + "fatty liver disease, nonalcoholic, susceptibility to, 2" "" + "Fanconi renotubular syndrome 2" "Any Fanconi syndrome in which the cause of the disease is a mutation in the SLC34A1 gene." "" + "Fanconi anemia complementation group O" "Any Fanconi anemia in which the cause of the disease is a mutation in the RAD51C gene." "" + "autosomal recessive nonsyndromic hearing loss 84A" "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the PTPRQ gene." "" + "autosomal recessive nonsyndromic hearing loss 85" "An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 17p12-q11.2." "" + "Birbeck granule deficiency" "" + "Warsaw breakage syndrome" "A syndrome mainly characterized by severe growth retardation and microcephaly. It is a new form of cohesinopathy showing defects in sister chromatid cohesion and hypersensitivity to chemicals that induce replication stress, thus combining distinct cytogenetic features seen in Roberts syndrome and Fanconi anemia, respectively. It has material basis in homozygous or compound heterozygous mutation in the DDX11 gene on chromosome 12p11." "" + "breast-ovarian cancer, familial, susceptibility to, 3" "Any hereditary breast ovarian cancer syndrome in which the cause of the disease is a mutation in the RAD51C gene." "" + "microcephaly, seizures, and developmental delay" "" + "arthrogryposis, renal dysfunction, and cholestasis 2" "Any arthrogryposis-renal dysfunction-cholestasis syndrome in which the cause of the disease is a mutation in the VIPAS39 gene." "" + "chromosome 15q24 deletion syndrome" "15q24 microdeletion syndrome is a rare chromosomal anomaly characterized cytogenetically by a 1.7-6.1 Mb deletion in chromosome 15q24 and clinically by pre- and post-natal growth retardation, intellectual disability, distinct facial features, and genital, skeletal, and digital anomalies." "" + "SIN3A-related intellectual disability syndrome" "" + "leprosy, susceptibility to, 6" "" + "autism, susceptibility to, 16" "" + "Oguchi disease-2" "Any Oguchi disease in which the cause of the disease is a mutation in the GRK1 gene." "" + "esophagitis, eosinophilic, 2" "" + "dilated cardiomyopathy 1R" "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the ACTC1 gene." "" + "dilated cardiomyopathy 1S" "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the MYH7 gene." "" + "retinitis pigmentosa 54" "Any retinitis pigmentosa in which the cause of the disease is a mutation in the PCARE gene." "" + "amyotrophic lateral sclerosis type 12" "Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the OPTN gene." "" + "autism, susceptibility to, 17" "" + "intellectual disability, autosomal dominant 20" "Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the MEF2C gene." "" + "distal 16p11.2 microdeletion syndrome" "Distal 16p11.2 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the short arm of chromosome 16 with a highly variable phenotype typically characterized by developmental delay, mild intellectual disability and autism spectrum disorder. Macrocephaly (apparent by 2 years of age), structural brain malformations, epilepsy, vertebral anomalies and obesity are frequently associated." "" + "frontonasal dysplasia with alopecia and genital anomaly" "Frontonasal dysplasia with alopecia and genital anomaly is a new phenotype of frontonasal dysplasia associated with total alopecia and hypogonadism." "" + "autosomal recessive nonsyndromic hearing loss 91" "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the SERPINB6 gene." "" + "Rett syndrome, congenital variant" "" + "FOXG1 disorder" "A monogenic disease that has material basis in mutation in the FOXG1 gene." "" + "frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome" "" + "chromosome 14q11-q22 deletion syndrome" "14q11.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay, hypotonia and facial dysmorphism." "" + "chromosome 16p13.3 duplication syndrome" "16p13.3 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from a partial duplication of the short arm of chromosome 16 and manifesting with a variable phenotype which is mostly characterized by: mild to moderate intellectual deficit and developmental delay (particularly speech), normal growth, short, proximally implanted thumbs and other hand and feet malformations (such as camptodactyly, syndactyly, club feet), mild arthrogryposis and characteristic facies (upslanting, narrow palpebral fissures, hypertelorism, mid face hypoplasia, bulbous nasal tip and low set ears). Other reported manifestations include cryptorchidism, inguinal hernia and behavioural problems." "" + "retinitis pigmentosa 51" "Any retinitis pigmentosa in which the cause of the disease is a mutation in the TTC8 gene." "" + "hemolytic anemia due to glucophosphate isomerase deficiency" "Glucosephosphate isomerase (GPI) deficiency is an erythroenzymopathy characterized by chronic nonspherocytic hemolytic anemia." "" + "Reynolds syndrome" "Reynolds syndrome (RS) is an autoimmune disorder characterized by the association of primary biliary cirrhosis (PBC) with limited cutaneous systemic sclerosis (lcSSc)." "" + "developmental and epileptic encephalopathy, 5" "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SPTAN1 gene." "" + "lymphatic malformation 3" "Any hereditary lymphedema in which the cause of the disease is a mutation in the GJC2 gene." "" + "long QT syndrome 13" "Any long QT syndrome in which the cause of the disease is a mutation in the KCNJ5 gene." "" + "COG4-CDG" "COG4-CDG is an extremely rare form of CDG syndrome characterized clinically in the single reported case to date by seizures, some dysmorphic features, axial hyponia, slight peripheral hypertonia and hyperreflexia." "" + "alpha 1-antitrypsin deficiency" "Alpha-1-antitrypsin deficiency is a hereditary disease that develops in adulthood and is characterized by chronic liver disorders (cirrhosis), respiratory disorders (emphysema), and rarely panniculitis." "" + "immunodeficiency, common variable, 3" "" + "immunodeficiency, common variable, 4" "" + "immunodeficiency, common variable, 5" "Any common variable immunodeficiency in which the cause of the disease is a mutation in the MS4A1 gene." "" + "immunodeficiency, common variable, 6" "Any common variable immunodeficiency in which the cause of the disease is a mutation in the CD81 gene." "" + "agammaglobulinemia 2, autosomal recessive" "Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the IGLL1 gene." "" + "agammaglobulinemia 3, autosomal recessive" "Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the CD79A gene." "" + "agammaglobulinemia 4, autosomal recessive" "Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the BLNK gene." "" + "agammaglobulinemia 5, autosomal dominant" "Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the LRRC8A gene." "" + "glycogen storage disease XV" "Glycogen storage disease type 15 is an extremely rare genetic glycogen storage disease reported in one patient to date. Clinical signs included muscle weakness, cardiac arrhythmia associated with accumulation of abnormal storage material in the heart and glycogen depletion in skeletal muscle." "" + "chromosome 4q21 deletion syndrome" "The 4q21 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, progressive growth restriction, severe intellectual deficit and absent or severely delayed speech." "" + "partial deletion of the long arm of chromosome 4" "Chromosome 4q deletion is a chromosome abnormality that affects many different parts of the body. People with this condition are missing genetic material located on the long arm (q) of chromosome 4 in each cell. The severity of the condition and the associated signs and symptoms vary based on the size and location of the deletion and which genes are involved. Common features shared by many people with this deletion includedistinctive craniofacial features, skeletal abnormalities, heart defects, intellectual disability, developmental delay, and short stature. Most cases are not inherited, although affectedpeople can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person." "" + "isolated microphthalmia 6" "Any isolated microphthalmia in which the cause of the disease is a mutation in the PRSS56 gene." "" + "atopic dermatitis 8" "An atopic dermatitis associated with variation in the region 4q22.1." "" + "atopic dermatitis 9" "An atopic dermatitis associated with variation in the region 3p24." "" + "myeloid neoplasm associated with FGFR1 rearrangement" "Hematologic neoplasms characterized by the rearrangement of the FGFR1 gene, resulting in translocations with an 8p11 breakpoint. Patients present with a myeloproliferative neoplasm, acute myeloid leukemia, lymphoblastic lymphoma/leukemia of T or B-cell lineage, or acute leukemia of mixed phenotype." "" + "autosomal dominant limb-girdle muscular dystrophy type 1H" "Autosomal dominant limb-girdle muscular dystrophy type 1H (LGMD1H) is a subtype of autosomal dominant limb-girdle muscular dystrophy characterized by slowly progressive proximal muscular weakness initially affecting the lower limbs (and later involving the upper limbs), hypotrophy of upper and lower limb-girdle muscles, hyporeflexia, calf hypertrophy, and increased serum creatine kinase. There is no involvement of oculo-facial-bulbar muscles and cardiac muscle." "" + "chromosome 17q21.31 duplication syndrome" "The newly described 17q21.31 microduplication syndrome is associated with a broad clinical spectrum, of which behavioral disorders and poor social interaction seem to be the most consistent." "" + "partial duplication of the long arm of chromosome 17" "" + "chromosome 6q11-q14 deletion syndrome" "" + "commissural facial cleft" "Greatly exaggerated width of the mouth, resulting from failure of union of the maxillary and mandibular processes, with extension of the oral orifice toward the ear. The defect may be unilateral or bilateral. (Dorland, 27th ed)" "" + "lateral facial cleft" "" + "aromatase deficiency" "Aromatase deficiency disrupts the synthesis of estradiol, resulting in hirsutism of mothers during gestation of an affected child; pseudohermaphroditism and virilization in women; and tall stature, osteoporosis and obesity in men." "" + "46,XX disorder of sex development induced by fetoplacental androgens excess" "" + "nephronophthisis 11" "A nephronophthisis that has material basis in homozygous or compound heterozygous mutation in the TMEM67 gene on chromosome 8q22.1." "" + "Senior-Boichis syndrome" "Boichis syndrome consists of the association of congenital nephronophthisis leading to renal failure, and hepatic fibrosis. It has been described in five members of one family, two of whom died from renal failure. The association of Boichis syndrome with tapetoretinal degeneration and intellectual deficit has also been reported in one family: the so-called Senior-Boichis syndrome could be in fact the same entity, and was later reported in a 12 year-old child." "" + "autoimmune disease, susceptibility to, 6" "Any autoimmune disease in which the cause of the disease is a mutation in the SIAE gene." "" + "von Willebrand disease 2" "Type 2 von Willebrand disease (type 2 VWD) is a form of VWD characterized by a bleeding disorder associated with a qualitative deficiency and functional anomalies of the Willebrand factor (von Willebrand factor; VWF)." "" + "autosomal dominant nonsyndromic hearing loss 51" "An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the fourth decade of life with high frequency progressive hearing loss and has material basis in a 269-kb duplication of chromosome 9q21.11 involving the TJP2 and FAM189A2 genes." "" + "combined oxidative phosphorylation defect type 7" "Combined oxidative phosphorylation defect type 7 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by a variable phenotype that includes onset in infancy or early childhood of failure to thrive and psychomotor regression (after initial normal development), as well as ocular manifestations (such as ptosis, nystagmus, optic atrophy, ophthalmoplegia and reduced vision). Additional manifestations include bulbar paresis with facial weakness, hypotonia, difficulty chewing, dysphagia, mild dysarthria, ataxia, global muscle atrophy, and areflexia. It has a relatively slow disease progression with patients often living into the third decade of life." "" + "c12orf65-related combined oxidative phosphorylation defect" "" + "myopathy, lactic acidosis, and sideroblastic anemia 2" "Any mitochondrial myopathy and sideroblastic anemia in which the cause of the disease is a mutation in the YARS2 gene." "" + "CBL-related disorder" "CBL-related disorder is a genetic condition caused by pathogenic variants in the Cbl ubiquitin ligase gene, (CBL; HGNC:1541). Due to the proposed mechanism indicating the CBL gene's relationship to the RAS-MAPK pathway and the phenotypic presentation similar to that of the RASopathies, CBL-related disorder should be considered a RASopathy disorder. Though there is a wide spectrum of phenotypic variability, broadly, patients with CBL-related disorder have presented with developmental delay, intellectual disability, neurodevelopmental alterations, prenatal lymphatic anomalies, cardiac malformations as well as vascular anomalies particularly affecting the brain (e.g. Moya-moya arteriopathies), craniofacial features indicative of a RASopathy, hypotonia, feeding difficulties, edema of the legs, musculoskeletal and respiratory thorax abnormalities, ectodermal features including cafe-au-lait spots, immunological and hematological disorders and susceptibility to tumors diagnosed as juvenile myelomonocytic leukemia (JMML) that is usually self-remitting. Note tumor risk beyond JMML has not yet been thoroughly assessed. Due to the clinical presentation of a broad spectrum of these and other phenotypes in patients with variants in CBL, these conditions are currently defined by experts in reference to the causal gene, CBL." "" + "chromosome 2p12-p11.2 deletion syndrome" "" + "congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency" "Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency is a unique form of congenital adrenal hyperplasia (CAH) characterized by glucocorticoid deficiency, severe sexual ambiguity in both sexes and skeletal (especially craniofacial) malformations." "" + "ectodermal dysplasia-syndactyly syndrome" "Ectodermal dysplasia-syndactyly syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by sparse to absent scalp hair, eyebrows, and eyelashes (with pili torti when present), widely spaced, conical-shaped teeth with peg-shaped, conical crowns and enamel hypoplasia and palmoplantar hyperkeratosis, associated with partial cutaneous syndactyly in hands and feet." "" + "retinitis pigmentosa 55" "Any retinitis pigmentosa in which the cause of the disease is a mutation in the ARL6 gene." "" + "ectodermal dysplasia-cutaneous syndactyly syndrome" "" + "retinitis pigmentosa 56" "Any retinitis pigmentosa in which the cause of the disease is a mutation in the IMPG2 gene." "" + "retinitis pigmentosa 57" "Any retinitis pigmentosa in which the cause of the disease is a mutation in the PDE6G gene." "" + "occult macular dystrophy" "Occult macular dystrophy is a rare, genetic retinal dystrophy disease characterized by bilateral progressive decline of visual acuity, due to retinal dysfunction confined only to the macula, associated with normal fundus and fluorescein angiograms and severly attenuated focal macular and multifocal electroretinograms." "" + "torsade-de-pointes syndrome with short coupling interval" "Torsade-de-pointes (TdP) syndrome with short coupling interval is a very rare variant of Torsade de pointes, a polymorphic ventricular tachycardia, which is characterized by a short coupling interval of the first TdP beat on electrocardiogram in the absence of any structural heart disease. It manifests in early adulthood with syncope, often results in ventricular fibrillation and shows a high risk of sudden cardiac death." "" + "early repolarization associated with ventricular fibrillation" "" + "chromosome 4Q32.1-q32.2 triplication syndrome" "" + "partial duplication of the long arm of chromosome 4" "Chromosome 4q duplication is a chromosome abnormality characterized by an extra copy (duplication) of genetic material on the long arm (q) of chromosome 4. The severity and specific symptoms depend on the size and location of the duplication, and which genes are involved. Features that have been described in some people with chromosome 4q duplication include developmental delay, intellectual disability, behavioral problems, birth defects, and distinctive facial features. Most cases are inherited from an unaffected parent with a chromosomal rearrangement called a balanced translocation. Some cases are not inherited and occur sporadically. Treatment is based on the signs and symptoms present in each person." "" + "chromosome 16p12.2-p11.2 deletion syndrome" "16p11.2-p12.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism." "" + "forsythe-wakeling syndrome" "" + "epilepsy, familial adult myoclonic, 3" "" + "cranioectodermal dysplasia 2" "Any cranioectodermal dysplasia in which the cause of the disease is a mutation in the WDR35 gene." "" + "lymphedema-posterior choanal atresia syndrome" "" + "COG5-CDG" "COG5-CDG is an extremely rare form of CDG syndrome characterized clinically in the single reported case to date by moderate mental retardation with slow and inarticulate speech, truncal ataxia, and mild hypotonia." "" + "Senior-Loken syndrome 7" "Any Senior-Loken syndrome in which the cause of the disease is a mutation in the SDCCAG8 gene." "" + "primary hyperoxaluria type 3" "Primary hyperoxaluria type 3 (PH3) is a disorder of glyoxylate metabolism that can be asymptomatic or characterized by oxalate nephrolithiasis." "" + "retinitis pigmentosa 58" "Any retinitis pigmentosa in which the cause of the disease is a mutation in the ZNF513 gene." "" + "familial clubfoot due to 17q23.1q23.2 microduplication" "17q23.1-q23.2 microduplication is a newly described cause of familial isolated clubfoot." "" + "agenesis of the corpus callosum and congenital lymphedema" "" + "factor 5 and Factor VIII, combined deficiency of, 2" "Any combined deficiency of factor V and factor VIII in which the cause of the disease is a mutation in the MCFD2 gene." "" + "brachydactyly, type A1, with short stature, scoliosis, microcephaly, ptosis, hearing loss, and intellectual disability" "" + "odontoid hypoplasia" "An often asymptomatic developmental abnormality of the cervical spine. It is characterized by the hypoplasia of the odontoid which appears as a stubby peg of an odontoid process. Symptoms may develop after minor trauma and include localized neck pain, atlantoaxial instability, and transient or permanent neurologic manifestations." "" + "cocoon syndrome" "Fetal encasement syndrome is a rare, lethal developmental defect during embryogenesis characterized by severe fetal malformations, including craniofacial dysmorphism (abnormal cyst in the cranial region, hypoplastic eyeballs, two orifices in the nasal region separated by a nasal septum, abnormal orifice replacing the mouth), omphalocele and immotile, hypoplastic limbs encased under an abnormal, transparent, membrane-like skin. Additional features include absence of adnexal structures of the skin on the outer aspect of the limbs, as well as underdeveloped skeletal muscles and bones. Association with tetralogy of Fallot, horse-shoe kidneys and diaphragm and lung lobulation defects is reported." "" + "tuberculin skin test reactivity, absence of" "" + "chromosome 19p13.13 deletion syndrome" "19p13.13 microdeletion syndrome is a rare partial autosomal monosomy characterized by global developmental delay, moderate intellectual disability, macrocephaly, overgrowth, hypotonia, and facial dysmorphism (frontal bossing, down-slanting palpebral fissures). Other associated features variably include ataxia, seizures, ventriculomegaly, ocular abnormalities (strabismus, optic nerve hypoplasia) and gastrointestinal problems (abdominal pain, vomiting, constipation)." "" + "partial deletion of the short arm of chromosome 19" "" + "neuropathy, hereditary sensory and autonomic, type 1C" "A hereditary sensory and autonomic neuropathy type 1 that has material basis in heterozygous mutation in the SPTLC2 gene on chromosome 14q24." "" + "Charcot-Marie-Tooth disease recessive intermediate B" "Autosomal recessive intermediate Charcot-Marie-Tooth disease type B is an extremely rare subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease characterized by a CMT neuropathy associated with developmental delay, self-abusive behavior, dysmorphic features and vestibular Schwannoma. Motor nerve conduction velocities demonstrate features of both demyelinating and axonal pathology." "" + "dilated cardiomyopathy 1GG" "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the SDHA gene." "" + "Parkinson disease 5, autosomal dominant, susceptibility to" "Any young-onset Parkinson disease in which the cause of the disease is a mutation in the UCHL1 gene." "" + "methylmalonic acidemia due to transcobalamin receptor defect" "Methylmalonic aciduria due to transcobalamin receptor defect is a rare metabolite absorption and transport disorder characterized by a moderate increase of methylmalonic acid (MMA) in the blood and urine due to decreased cellular uptake of cobalamin resulting from decreased transcobalamin receptor function. Patients are usually asymptomatic however, screening reveals increased C3-acylcarnitine and MMA in plasma. Serum homocysteine levels may vary from normal to moderately elevated and retinal vascular occlusive disease, resulting in severe visual loss, has been reported." "" + "hereditary spastic paraplegia 48" "Autosomal recessive spastic paraplegia type 48 (SPG48) is a form of hereditary spastic paraplegia usually characterized by a pure phenotype of a slowly progressive spastic paraplegia associated with urinary incontinence with an onset in mid- to late-adulthood. A complex phenotype, with the additional findings of cognitive impairment, sensorimotor polyneuropathy, ataxia and parkinsonism, as well as thin corpus callosum and white matter lesions (seen on magnetic resonance imaging), has also been reported." "" + "C1Q deficiency" "C1q deficiency is a rare disorder associated with recurrent skin lesions, chronic infections, systemic lupus erythematosus (SLE) or SLE-like diseases. It has also been associated with a kidney disease known as mesangial proliferative glomerulonephritis. C1q is a complex and together with other proteins, C1r and C1s, it forms the C1 complex. This complex is important for the activation of the complement system (a group of proteins that work with the immune system). It also disposes cells that are dead. C1q deficiency presents in 2 different forms, absent C1q protein or abnormal C1q protein. Symptoms include infections (ear infections (otitis media), meningitis, urinary tract infections, oral infections); skin lesions (small blisters (vesicles), dark patches, and atrophic areas) that get worse upon light exposure; cataracts; loss of eyelashes, eyebrows, and scalp hair; blood in urine; and glomerulonephritis. About 93% of cases are associated with systemic lupus erythematosus. It can be caused by mutations in the C1QA, C1QB or C1QC genes and is inherited in an autosomal recessive pattern. Treatment depends on the symptoms. Recently, it was shown that C1q production can be restored by allogeneic hematopoietic stem cell transplantation, a procedure in which a person receives blood-forming stem cells (cells from which all blood cells develop) from a genetically similar, but not identical donor." "" + "migraine, with or without aura, susceptibility to, 13" "Any migraine disorder in which the cause of the disease is a mutation in the KCNK18 gene." "" + "d-2-hydroxyglutaric aciduria 2" "Any D-2-hydroxyglutaric aciduria in which the cause of the disease is a mutation in the IDH2 gene." "" + "obsolete brain calcification, Rajab type" "" "true" + "obsolete gastric cancer" "" "true" + "cone-rod dystrophy 15" "Any cone-rod dystrophy in which the cause of the disease is a mutation in the CDHR1 gene." "" + "ALG11-CDG" "A form of congenital disorders of N-linked glycosylation characterized by facial dysmorphism (microcephaly, high forehead, low posterior hairline, strabismus), hypotonia, failure to thrive, intractable seizures, developmental delay, persistent vomiting and gastric bleeding. Additional features that may be observed include fat pads anomalies, inverted nipples, and body temperature oscillation. The disease is caused by mutations in the gene ALG11 (13q14.3)." "" + "mitochondrial DNA depletion syndrome 4b" "" + "infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly" "Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly is a rare, central nervous system malformation syndrome characterized by progressive microcephaly with profound motor delay and intellectual disability, associated with hypertonia, spasticity, clonus, and seizures, with brain imaging revealing severe cerebral and cerebellar atrophy, and poor myelination." "" + "intellectual disability-severe speech delay-mild dysmorphism syndrome" "Intellectual disability-severe speech delay-mild dysmorphism syndrome, also known as intellectual disability with language impairment and with or without autistic features, is adisorder characterized by global developmental delay with moderate to severe speech delay thataffects expressive speech. Most patients have difficulty articulating words. Common signs and symptoms include broad forehead, downslanting palpebral fissures, short nose with broad tip, head appearing too large for the body, frontal hair upsweep, and bulging digit pads anddelatyed gross motor skills. Some patients have autistic features and/or behavioral problems. Congenital malformations may be associated. All reported cases have occurred de novo (without any cases in the family). It is caused by alterations (mutations) in the caused by heterozygous mutation in the FOXP1 gene." "" + "intellectual disability, anterior maxillary protrusion, and strabismus" "" + "spastic ataxia 4" "Any autosomal recessive spastic ataxia in which the cause of the disease is a mutation in the MTPAP gene." "" + "congenital dyserythropoietic anemia type 4" "Congenital dyserythropoietic anemia type IV (CDA IV) is a newly discovered form of CDA characterized by ineffective erythropoiesis and hemolysis that leads to severe anemia at birth." "" + "vesicoureteral reflux 3" "Any vesicoureteral reflux in which the cause of the disease is a mutation in the SOX17 gene." "" + "chromosome 17q11.2 deletion syndrome, 1.4Mb" "17q11 microdeletion syndrome is a rare severe form of neurofibromatosis type 1 (NF1) characterized by mild facial dysmorphism, developmental delay, intellectual disability, increased risk of malignancies, and a large number of neurofibromas." "" + "Seckel syndrome 4" "Any Seckel syndrome in which the cause of the disease is a mutation in the CENPJ gene." "" + "familial hyperaldosteronism type III" "Familial hyperaldosteronism type III (FH-III) is a rare heritable form of primary aldosteronism (PA) that is characterized by early-onset severe hypertension, non glucocorticoid-remediable hyperaldosteronism, overproduction of 18-oxocortisol and 18-hydroxycortisol, and profound hypokalemia." "" + "brachyolmia, Maroteaux type" "Autosomal recessive brachyolmia, Maroteaux type is a relatively mild form of brachyolmia, a group of rare genetic skeletal disorders, characterized by short trunk/short stature, generalized platyspondyly and rounding of vertebral bodies. It remains unknown whether the phenotype represents a single disease entity or a heterogeneous group of mild skeletal dysplasias." "" + "congenital prothrombin deficiency" "Congenital factor II deficiency is an inherited bleeding disorder due to reduced activity of factor II (FII, prothrombin) and characterized by mucocutaneous bleeding symptoms." "" + "prothrombin deficiency" "" + "THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome" "" + "chromosome 2q31.1 duplication syndrome" "" + "Rubinstein-Taybi syndrome due to EP300 haploinsufficiency" "Any Rubinstein-Taybi syndrome in which the cause of the disease is a mutation in the EP300 gene." "" + "autosomal recessive nonsyndromic hearing loss 83" "An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 9p23-p21.2." "" + "spondylocostal dysostosis 4, autosomal recessive" "Any autosomal recessive spondylocostal dysostosis in which the cause of the disease is a mutation in the HES7 gene." "" + "long QT syndrome 2" "An autosomal dominant condition caused by mutation(s) in the KCNH2 gene, encoding potassium voltage-gated channel subfamily H member 2. It is characterized by a prolonged QT interval that may result in torsade de pointes, ventricular fibrillation and/or sudden cardiac death." "" + "mammary-digital-nail syndrome" "Mammary-digital-nail syndrome is a syndromic limb malformation characterized by congenital onychodystrophy/anonychia, brachydactyly of the fifth finger, digitalization of the thumbs, with absence or hypoplasia of the distal phalanges of the hands and feet in association with juvenile hypertrophy of the breast with gigantomastia in peripubertal females." "" + "hypertrophic cardiomyopathy 7" "Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the TNNI3 gene." "" + "long QT syndrome 6" "Any long QT syndrome in which the cause of the disease is a mutation in the KCNE2 gene." "" + "dilated cardiomyopathy 1U" "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the PSEN1 gene." "" + "dilated cardiomyopathy 1V" "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the PSEN2 gene." "" + "supernumerary der(22)t(8;22) syndrome" "" + "Klippel-Feil syndrome 3, autosomal dominant" "Any isolated Klippel-Feil syndrome in which the cause of the disease is a mutation in the GDF3 gene." "" + "microphthalmia, isolated, with coloboma 6" "" + "isolated microphthalmia 7" "Any isolated microphthalmia in which the cause of the disease is a mutation in the GDF3 gene." "" + "orofacial cleft 10" "Any orofacial cleft in which the cause of the disease is a mutation in the SUMO1 gene." "" + "Noonan syndrome 7" "Any Noonan syndrome in which the cause of the disease is a mutation in the BRAF gene." "" + "LEOPARD syndrome 3" "Any Noonan syndrome with multiple lentigines in which the cause of the disease is a mutation in the BRAF gene." "" + "neuropathy, hereditary sensory, type 1D" "A hereditary sensory and autonomic neuropathy type 1 characterized by adult onset of a distal axonal sensory neuropathy that has material basis in heterozygous mutation in the ATL1 gene on chromosome 14q." "" + "progressive demyelinating neuropathy with bilateral striatal necrosis" "Progressive polyneuropathy with bilateral striatal necrosis is a rare, genetic disorder of thiamine metabolism and transport characterized by the childhood-onset of recurrent episodes of flaccid paralysis and encephalopathy, associated with bilateral striatal necrosis and chronic progressive axonal polyneuropathy with proximal and distal muscle weakness, areflexia, contractures and foot deformities." "" + "Hirschsprung disease, susceptibility to, 3" "" + "Hirschsprung disease, susceptibility to, 4" "Any Hirschsprung disease in which the cause of the disease is a mutation in the EDN3 gene." "" + "Treacher Collins syndrome 2" "Any Treacher-Collins syndrome in which the cause of the disease is a mutation in the POLR1D gene." "" + "autosomal recessive nonsyndromic hearing loss 74" "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the MSRB3 gene." "" + "developmental and epileptic encephalopathy, 7" "KCNQ2-related epileptic encephalopathy is a severe form of neonatal epilepsy that usually manifests in newborns during the first week of life with seizures (that affect alternatively both sides of the body), often accompanied by clonic jerking or more complex motor behavior, as well as signs of encephalopathy such as diffuse hypotonia, limb spasticity, lack of visual fixation and tracking and mild to moderate intellectual deficiency. The severity can range from controlled to intractable seizures and mild/moderate to severe intellectual disability." "" + "developmental and epileptic encephalopathy, 11" "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SCN2A gene." "" + "developmental and epileptic encephalopathy, 12" "An extremely rare nervous system disorder. Infants with EIEE12 develop very frequent epileptic seizures. Seizures present within the first days to months of life. Seizures may trigger eye rolling, eyelid fluttering, lip smacking, drooling, bluish coloring around the mouth, limpness, or muscle stiffening (particularly those in his or her back, legs, and arms). The seizures associated with this disease are difficult to treat and the syndrome is severely progressive. EIEE12 occurs when a child inherits two mutations in the PLCB1 gene (one from each parent). EIEE12 is inherited in an autosomal recessive fashion." "" + "malignant migrating partial seizures of infancy" "A very rare severe form of epilepsy with poor prognosis that usually begins within a few weeks of birth. The seizure activity can appear in multiple locations in the brain or migrate from one region to another during an episode. It results in severe developmental delay." "" + "autosomal recessive limb-girdle muscular dystrophy type 2Q" "Autosomal recessive limb-girdle muscular dystrophy type 2Q (LGMD2Q) is a form of limb-girdle muscular dystrophy characterized by proximal muscle weakness presenting in early childhood (with occasional falls and difficulties in climbing stairs) and a progressive course resulting in loss of ambulation in early adulthood. Muscle atrophy and multiple contractures have also been reported in rare cases." "" + "sterol carrier protein 2 deficiency" "A peroxisomal neurodegenerative disorder characterized by spasmodic torticollis, dystonic head tremor, intention tremor, nystagmus, hyposmia, and hypergonadotrophic hypogonadism with azoospermia. Slight cerebellar signs (left-sided intention tremor, balance and gait impairment) are also noted. Magnetic resonance imaging (MRI) shows bilateral hyperintense signals in the thalamus, butterfly-like lesions in the pons, and lesions in the occipital region, whereas nerve conduction studies of the lower extremities shows a predominantly motor and slight sensory neuropathy." "" + "autosomal recessive spinocerebellar ataxia 10" "Any autosomal recessive cerebellar ataxia in which the cause of the disease is a mutation in the ANO10 gene." "" + "distal 7q11.23 microdeletion syndrome" "Distal 7q11.23 microdeletion syndrome is a rare chromosomal anomaly characterized by epilepsy, neurodevelopmental disorder variably including developmental delays and intellectual disabilities of variable severity, learning disability and neurobehavioral abnormalities (autism spectrum disorder, hyperactivity, impulsivity, aggression, self-abusive behaviors, depression)." "" + "porencephaly-microcephaly-bilateral congenital cataract syndrome" "" + "retinitis pigmentosa 4" "Any retinitis pigmentosa in which the cause of the disease is a mutation in the RHO gene." "" + "chromosome 1p32-p31 deletion syndrome" "1p31p32 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the short arm of chromosome 1, characterized by developmental delay, corpus callosum agenesis/hypoplasia and craniofacial dysmorphism, such as macrocephaly (caused by hydrocephalus or ventriculomegaly), low-set ears, anteverted nostrils and micrognathia. Urinary tract defects (e.g. vesicoureteral reflux, urinary incontinence) are also frequently associated. Other reported variable manifestations include hypotonia, tethered spinal cord, Chiari type I malformation and seizures." "" + "acne inversa, familial, 2" "Any familial acne inversa in which the cause of the disease is a mutation in the PSENEN gene." "" + "acne inversa, familial, 3" "Any familial acne inversa in which the cause of the disease is a mutation in the PSEN1 gene." "" + "obsolete cardiomyopathy, dilated, 1T" "" "true" + "Congenital adrenal insuffiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency" "A rare, genetic, developmental defect during embryogenesis disorder characterized by severe, early-onset, salt-wasting adrenal insufficiency and ambiguous/female external genitalia (irrespective of chromosomal sex) due to mutations in the CYP11A1 gene. Milder cases may present delayed onset of adrenal gland dysfunction and genitalia phenotype may range from normal male to female in individuals with 46,XY karyotype. Imaging studies reveal hypoplastic/absent adrenal glands and biochemical findings include low serum cortisol, mineralocorticoids, androgens, and sodium, with elevated potassium levels." "" + "hereditary spastic paraplegia 51" "Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the AP4E1 gene." "" + "retinitis pigmentosa 27" "Any retinitis pigmentosa in which the cause of the disease is a mutation in the NRL gene." "" + "heterotaxy, visceral, 4, autosomal" "Any visceral heterotaxy in which the cause of the disease is a mutation in the ACVR2B gene." "" + "hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase" "Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency is characterised by psychomotor delay and severe myopathy (hypotonia, absent tendon reflexes and delayed myelination) from birth, associated with hypermethioninaemia and elevated serum creatine kinase levels." "" + "retinitis pigmentosa 49" "Any retinitis pigmentosa in which the cause of the disease is a mutation in the CNGA1 gene." "" + "age related macular degeneration 6" "Any age-related macular degeneration in which the cause of the disease is a mutation in the RAX2 gene." "" + "retinitis pigmentosa 47" "Any retinitis pigmentosa in which the cause of the disease is a mutation in the SAG gene." "" + "FADD-related immunodeficiency" "A rare genetic immunological disease reported in a single consanguineous Pakistani family with several affected members presenting with severe bacterial and viral infections, recurrent hepatopathy (portal inflammation, fibrosis), and recurrent, stereotypical febrile episodes, sometimes lasting several days, with encephalopathy and difficult-to-control seizures. Variable cardiac malformations were also reported. Although there were autoimmune lymphoproliferative syndrome (ALPS)-like biological features, clinical ALPS was not present. A homozygous missense mutation in the FADD gene (11q13.3) was found in the family and the disease is thought to follow an autosomal recessive pattern of inheritance." "" + "age related macular degeneration 5" "Any age-related macular degeneration in which the cause of the disease is a mutation in the ERCC6 gene." "" + "46,XY sex reversal 6" "" + "cataract 16 multiple types" "Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CRYAB gene." "" + "hypertrophic cardiomyopathy 9" "Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the TTN gene." "" + "retinitis pigmentosa 45" "Any retinitis pigmentosa in which the cause of the disease is a mutation in the CNGB1 gene." "" + "retinitis pigmentosa 44" "Any retinitis pigmentosa in which the cause of the disease is a mutation in the RGR gene." "" + "chromosome 17p13.1 deletion syndrome" "" + "age related macular degeneration 8" "Any age-related macular degeneration in which the cause of the disease is a mutation in the ARMS2 gene." "" + "complement component 3 deficiency" "A rare genetic disorder with an autosomal recessive pattern of inheritance. It is caused by the ineffective or decreased biosynthesis of the third complement component, C3. C3 deficiency may also be acquired acutely post-infection or chronically from co-morbid autoimmune disorders. If C3 is adequately synthesized, its rapid depletion may result in a functional deficiency. Clinical signs of the inherited deficiency present within the first decade of life and are consistent with the signs of recurrent systemic infection or immune complex disease. Deficiency of serum C3 and its major cleavage product, C3b, will decrease the effective humoral immune response to encapsulated bacteria. Deficiency of C3 also impairs clearance of circulating immune complexes and therefore predisposes to rheumatic and renal disease." "" + "aortic aneurysm, familial thoracic 7" "" + "complement component C1s deficiency" "A rare defect resulting in C1 deficiency and impaired activation of the complement classical pathway. C1 deficiency generally leads to severe immune complex disease with features of systemic lupus erythematosus and glomerulonephritis." "" + "age related macular degeneration 12" "Any age-related macular degeneration in which the cause of the disease is a mutation in the CX3CR1 gene." "" + "type II complement component 8 deficiency" "Any classic complement early component deficiency in which the cause of the disease is a mutation in the C8B gene." "" + "type I complement component 8 deficiency" "Any classic complement early component deficiency in which the cause of the disease is a mutation in the C8A gene." "" + "immunodeficiency due to MASP-2 deficiency" "Immunodeficiency due to MASP-2 deficiency is a rare, genetic immunodeficiency due to a complement cascade protein anomaly characterized by low serum levels of MASP-2 and a variable susceptibility to bacterial infections (e.g. pulmonary tuberculosis, pneumococcal pneumonia, skin abscesses and sepsis), and autoimmune diseases (e.g. inflammatory lung disease, cystic fibrosis, systemic lupus erythematosus). In many cases it remains asymptomatic." "" + "disorder of lectin complement activation pathway" "A disease that has its basis in the disruption of complement activation, lectin pathway." "" + "3p- syndrome" "Distal monosomy 3p is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the short arm of chromosome 3, with a highly variable phenotype typically characterized by pre- and post-natal growth retardation, intellectual disability, developmental delay and craniofacial dysmorphism (microcephaly, trigonocephaly, downslanting palpebral fissures, telecanthus, ptosis, micrognathia). Postaxial polydactyly, hypotonia, renal anomalies and congenital heart defects (e.g. atrioventricular septal defect) may be associated." "" + "partial deletion of the short arm of chromosome 3" "" + "retinitis pigmentosa 20" "Any retinitis pigmentosa in which the cause of the disease is a mutation in the RPE65 gene." "" + "aneurysm-osteoarthritis syndrome" "" + "immunodeficiency 31B" "" + "Meier-Gorlin syndrome 2" "Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the ORC4 gene." "" + "retinitis pigmentosa 40" "Any retinitis pigmentosa in which the cause of the disease is a mutation in the PDE6B gene." "" + "Meier-Gorlin syndrome 3" "Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the ORC6 gene." "" + "Meier-Gorlin syndrome 4" "Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the CDT1 gene." "" + "Meier-Gorlin syndrome 5" "Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the CDC6 gene." "" + "primary ciliary dyskinesia 14" "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CCDC39 gene." "" + "primary ciliary dyskinesia 15" "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CCDC40 gene." "" + "retinitis pigmentosa 39" "Any retinitis pigmentosa in which the cause of the disease is a mutation in the USH2A gene." "" + "retinitis pigmentosa 43" "Any retinitis pigmentosa in which the cause of the disease is a mutation in the PDE6A gene." "" + "pontocerebellar hypoplasia type 2D" "Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the SEPSECS gene." "" + "congenital bile acid synthesis defect 3" "Congenital bile acid synthesis defect type 3 (BAS defect type 3) is a severe anomaly of bile acid synthesis characterized by severe neonatal cholestatic liver disease." "" + "autosomal recessive limb-girdle muscular dystrophy type 2P" "Autosomal recessive limb-girdle muscular dystrophy type 2P (LGMD2P) is a form of limb-girdle muscular dystrophy characterized by slowly-progressive mainly proximal muscle weakness presenting in early childhood (with difficulties walking and climbing stairs) and mild to severe intellectual disability. Additional manifestations reported include microcephaly, mild increase in thigh or calf muscles, and contractures of the ankles." "" + "primary qualitative or quantitative defects of alpha-dystroglycan" "" + "asphyxiating thoracic dystrophy 4" "An asphyxiating thoracic dystrophy has material basis in compound heterozygous mutation in the TTC21B gene on chromosome 2q24." "" + "nephronophthisis 12" "Any nephronophthisis in which the cause of the disease is a mutation in the TTC21B gene." "" + "Seckel syndrome 5" "Any Seckel syndrome in which the cause of the disease is a mutation in the CEP152 gene." "" + "nephronophthisis 9" "Any nephronophthisis in which the cause of the disease is a mutation in the NEK8 gene." "" + "complement component 9 deficiency" "Any classic complement early component deficiency in which the cause of the disease is a mutation in the C9 gene." "" + "Leber congenital amaurosis 6" "Any Leber congenital amaurosis in which the cause of the disease is a mutation in the RPGRIP1 gene." "" + "retinitis pigmentosa 48" "Any retinitis pigmentosa in which the cause of the disease is a mutation in the GUCA1B gene." "" + "generalized epilepsy with febrile seizures plus, type 8" "" + "Leber congenital amaurosis 7" "Any Leber congenital amaurosis in which the cause of the disease is a mutation in the CRX gene." "" + "congenital stationary night blindness 1D" "Any congenital stationary night blindness in which the cause of the disease is a mutation in the SLC24A1 gene." "" + "obsolete progressive myoclonic epilepsy type 5" "" "true" + "multisystemic smooth muscle dysfunction syndrome" "Multisystemic smooth muscle dysfunction syndrome is a disease in which the activity of smooth muscle throughout the body is impaired. This leads to widespread problems including blood vessel abnormalities, a decreased response of the pupils to light, a weak bladder, and weakened contractions of the muscles used for the digestion of food (hypo peristalsis). A certain mutation in the ACTA2 gene has been shown to cause this condition insome individuals." "" + "Leber congenital amaurosis 8" "Any Leber congenital amaurosis in which the cause of the disease is a mutation in the CRB1 gene." "" + "Leber congenital amaurosis 11" "Any Leber congenital amaurosis in which the cause of the disease is a mutation in the IMPDH1 gene." "" + "hypertrophic cardiomyopathy 16" "Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the MYOZ2 gene." "" + "constitutional megaloblastic anemia with severe neurologic disease" "" + "Leber congenital amaurosis 15" "Any Leber congenital amaurosis in which the cause of the disease is a mutation in the TULP1 gene." "" + "hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome" "" + "osteogenesis imperfecta type 10" "Any osteogenesis imperfecta in which the cause of the disease is a mutation in the SERPINH1 gene." "" + "osteogenesis imperfecta type 12" "Any osteogenesis imperfecta in which the cause of the disease is a mutation in the SP7 gene." "" + "inosine triphosphatase deficiency" "An inherited condition caused by mutation(s) in the ITPA gene, encoding inosine triphosphate pyrophosphatase. It is characterized by elevated concentrations of inosine triphosphate in erythrocytes." "" + "fucosyltransferase 6 deficiency" "" + "dextro-looped transposition of the great arteries 3" "Any dextro-looped transposition of the great arteries in which the cause of the disease is a mutation in the GDF1 gene." "" + "episodic ataxia type 5" "Episodic ataxia type 5 (EA5) is an extremely rare form of Hereditary episodic ataxia characterized by recurrent episodes of vertigo and ataxia lasting several hours." "" + "achromatopsia 4" "Any achromatopsia in which the cause of the disease is a mutation in the GNAT2 gene." "" + "orofacial cleft 13" "" + "immunodeficiency due to ficolin3 deficiency" "" + "retinitis pigmentosa 59" "Any retinitis pigmentosa in which the cause of the disease is a mutation in the DHDDS gene." "" + "retinitis pigmentosa 38" "Any retinitis pigmentosa in which the cause of the disease is a mutation in the MERTK gene." "" + "generalized epilepsy with febrile seizures plus, type 7" "Any generalized epilepsy with febrile seizures plus in which the cause of the disease is a mutation in the SCN9A gene." "" + "autosomal recessive nonsyndromic hearing loss 61" "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the SLC26A5 gene." "" + "fatal infantile hypertonic myofibrillar myopathy" "" + "hypercontractile muscle stiffness syndrome" "" + "Hirschsprung disease, cardiac defects, and autonomic dysfunction" "" + "hypertrophic cardiomyopathy 17" "Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the JPH2 gene." "" + "hypertrophic cardiomyopathy 18" "Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the PLN gene." "" + "hypertrophic cardiomyopathy 19" "Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the CALR3 gene." "" + "hypertrophic cardiomyopathy 20" "Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the NEXN gene." "" + "PLIN1-related familial partial lipodystrophy" "" + "dilated cardiomyopathy 1HH" "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the BAG3 gene." "" + "renal hypomagnesemia 6" "" + "chromosome 13q14 deletion syndrome" "Monosomy 13q14 is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 13, characterized by developmental delay, variable degrees of intellectual disability, retinoblastoma and craniofacial dysmorphism (incl. micro/dolichocephaly, high and broad forehead, prominent eyebrows, thick, anteverted ear lobes, short nose with a broad nasal bridge and bulbous tip, prominent philtrum, large mouth with thin upper lip and thick, everted lower lip). Other features reported include high birth weight, macrocephaly, pinealoma, hepatomegaly, inguinal hernia and cryptorchidism." "" + "Meckel syndrome, type 8" "Any Meckel syndrome in which the cause of the disease is a mutation in the TCTN2 gene." "" + "obesity, hyperphagia, and developmental delay" "" + "cataract 36" "Any cataract in which the cause of the disease is a mutation in the TDRD7 gene." "" + "spinocerebellar ataxia type 35" "Spinocerebellar ataxia type 35 (SCA35) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1) characterized by the adult-onset of progressive gait and limb ataxia, dysarthria, ocular dysmetria, intention tremor, hyperreflexia and spasmodic torticollis." "" + "spinocerebellar ataxia type 32" "Spinocerebellar ataxia type 32 (SCA32) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1) characterized by ataxia, cognitive impairment and azoospermia in males." "" + "recurrent Neisseria infections due to factor D deficiency" "" + "lipodystrophy, partial, acquired, with low complement component c3, with or without glomerulonephritis" "" + "autosomal recessive nonsyndromic hearing loss 89" "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the KARS gene." "" + "megalencephalic leukoencephalopathy with subcortical cysts 2A" "" + "megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability" "" + "alopecia-intellectual disability syndrome 3" "" + "acetyl-coa carboxylase deficiency" "" + "obsolete PSMNSW" "" "true" + "autosomal recessive congenital ichthyosis 8" "Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the LIPN gene." "" + "IgA nephropathy, susceptibility to, 2" "" + "Okt4 epitope deficiency" "" + "schizophrenia 15" "A schizophrenia that has material basis in a mutation of SHANK3 on chromosome 22q13.33." "" + "Fanconi anemia complementation group P" "Any Fanconi anemia in which the cause of the disease is a mutation in the SLX4 gene." "" + "immunodeficiency 51" "" + "frontotemporal dementia and/or amyotrophic lateral sclerosis 6" "Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the VCP gene." "" + "amyloidosis, primary localized cutaneous, 2" "" + "candidiasis, familial, 6" "Any familial chronic mucocutaneous candidiasis in which the cause of the disease is a mutation in the IL17F gene." "" + "spermatogenic failure 8" "Any azoospermia in which the cause of the disease is a mutation in the NR5A1 gene." "" + "spermatogenic failure 9" "Any azoospermia in which the cause of the disease is a mutation in the DPY19L2 gene." "" + "schizophrenia 16" "A schizophrenia that has material basis in a mutation on chromosome 7q36.3." "" + "granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3" "" + "myopia 19, autosomal dominant" "" + "intellectual disability, autosomal dominant 6" "Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the GRIN2B gene." "" + "melanoma, cutaneous malignant, susceptibility to, 6" "" + "cyanosis, transient neonatal" "" + "hemoglobin H disease" "Hemoglobin H (HbH) disease is a moderate to severe form of alpha-thalassemia characterized by pronounced microcytic hypochromic hemolytic anemia." "" + "pituitary hormone deficiency secondary to storage disease" "" + "atrial fibrillation, familial, 9" "Any familial atrial fibrillation in which the cause of the disease is a mutation in the KCNJ2 gene." "" + "hypotrichosis 3" "Any hypotrichosis in which the cause of the disease is a mutation in the KRT74 gene." "" + "osteogenesis imperfecta type 6" "Any osteogenesis imperfecta in which the cause of the disease is a mutation in the SERPINF1 gene." "" + "retinitis pigmentosa 60" "Any retinitis pigmentosa in which the cause of the disease is a mutation in the PRPF6 gene." "" + "beta-thalassemia HBB/LCRB" "Abnormal clinical manifestations of beta thalassemia that are as a result of the underlying genotype." "" + "pituitary hormone deficiency, combined, 6" "Any combined pituitary hormone deficiencies, genetic form in which the cause of the disease is a mutation in the OTX2 gene." "" + "dyskeratosis congenita, autosomal recessive 2" "A dyskeratosis congenita that has material basis in an autosomal recessive mutation of NOLA2 on chromosome 5q35.3." "" + "dyskeratosis congenita, autosomal recessive 3" "A dyskeratosis congenita that has material basis in an autosomal recessive mutation of WRAP53 on chromosome 17p13.1." "" + "dyskeratosis congenita, autosomal dominant 2" "A dyskeratosis congenita that has material basis in an autosomal dominant mutation of TERT on chromosome 5p15.33." "" + "dyskeratosis congenita, autosomal dominant 3" "A dyskeratosis congenita that has material basis in an autosomal dominant mutation of TINF2 on chromosome 14q12." "" + "Nestor-Guillermo progeria syndrome" "" + "bleeding diathesis due to thromboxane synthesis deficiency" "" + "primary ciliary dyskinesia 16" "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAL1 gene." "" + "progressive myoclonic epilepsy type 6" "Any progressive myoclonic epilepsy in which the cause of the disease is a mutation in the GOSR2 gene." "" + "lissencephaly 4" "Any lissencephaly in which the cause of the disease is a mutation in the NDE1 gene." "" + "intellectual disability, autosomal recessive 14" "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the TECR gene." "" + "catecholaminergic polymorphic ventricular tachycardia 3" "Any catecholaminergic polymorphic ventricular tachycardia in which the cause of the disease is a mutation in the TECRL gene." "" + "atrial fibrillation, familial, 10" "Any familial atrial fibrillation in which the cause of the disease is a mutation in the SCN5A gene." "" + "PSPH deficiency" "3-Phosphoserine phosphatase deficiency is an extremely rare form of serine deficiency syndrome characterized clinically by congenital microcephaly and severe psychomotor retardation in the single reported case to date, which was associated with Williams syndrome." "" + "protein Z deficiency" "" + "hyperlipidemia due to hepatic triglyceride lipase deficiency" "Hyperlipidemia due to hepatic triacylglycerol lipase deficiency is a rare, genetic hyperalphalipoproteinemia characterized by elevated plasma cholesterol and triglyceride (TG) levels with a marked TG enrichment of low- and high-density lipoproteins (HDL), presence of circulating beta-very low density lipoproteins and elevated HDL cholesterol levels, in the presence of a very low, or undetectable, postheparin plasma hepatic lipase activity. Premature atherosclerosis and/or coronary heart disease may be associated." "" + "apolipoprotein c-III deficiency" "" + "hydroxyacyl glutathione hydrolase deficiency" "" + "heme oxygenase 1 deficiency" "" + "inborn disorder of porphyrin metabolism" "An acquired metabolic disease that is has its basis in the disruption of porphyrin-containing compound metabolic process." "" + "autosomal recessive nonsyndromic hearing loss 29" "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the CLDN14 gene." "" + "alpha-2-macroglobulin deficiency" "True" + "hypotonia-failure to thrive-microcephaly syndrome" "Leukotriene C4 synthase deficiency is an extremely rare fatal neurometabolic developmental disorder characterized clinically by muscular hypotonia, psychomotor retardation, failure to thrive, and microcephaly." "" + "deafness-lymphedema-leukemia syndrome" "Deafness - lymphedema - leukemia is a very rare, serious syndromic genetic disorder characterized by primary lymphedema, immunodeficiency, and hematological disorders." "" + "GATA2 deficiency with susceptibility to MDS/AML" "A disorder arising from deficiency in the GATA2 with a wide spectrum of phenotypes. Autosomal dominant mutations of GATA2 cause a haploinsufficiency, which, in consequence, cause individuals to develop hematological, immunological, lymphatic, or other presentations. These often progress to severe organ (e.g. lung) failure, opportunistic infections, myelodysplastic syndrome, and/or acute myeloid leukemia. The most common clinical denominator is the propensity for myeloid neoplasia (myelodysplastic syndrome [MDS], myeloproliferative neoplasms [MPN], chronic myelomonocytic leukemia [CMML], acute myeloid leukemia [AML])." "" + "complex cortical dysplasia with other brain malformations 1" "Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the TUBB3 gene." "" + "Moyamoya disease 5" "Any Moyamoya disease in which the cause of the disease is a mutation in the ACTA2 gene." "" + "trypsinogen deficiency" "" + "atrial fibrillation, familial, 11" "Any familial atrial fibrillation in which the cause of the disease is a mutation in the GJA5 gene." "" + "atrial fibrillation, familial, 12" "Any familial atrial fibrillation in which the cause of the disease is a mutation in the ABCC9 gene." "" + "mitochondrial complex V (ATP synthase) deficiency nuclear type 2" "A mitochondrial complex deficiency characterized by early neonatal onset of hypotonia, hypetrophic cardiomyopathy and apneic spells within hours after birth accompanied by lactic acidosis, hyperammonemia and 3-methylglutaconic aciduria." "" + "mitochondrial complex V (ATP synthase) deficiency nuclear type 3" "Any mitochondrial proton-transporting ATP synthase complex deficiency in which the cause of the disease is a mutation in the ATP5F1E gene." "" + "acetyl-CoA acetyltransferase-2 deficiency" "" + "N-acetylaspartate deficiency" "" + "distal myopathy with posterior leg and anterior hand involvement" "Distal myopathy with posterior leg and anterior hand involvement, also named distal ABD-filaminopathy, is a neuromuscular disease characterized by a progressive symmetric muscle weakness of anterior upper and posterior lower limbs." "" + "hereditary spastic paraplegia 47" "Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the AP4B1 gene." "" + "hereditary spastic paraplegia 52" "Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the AP4S1 gene." "" + "immunodeficiency-centromeric instability-facial anomalies syndrome 2" "Any immunodeficiency-centromeric instability-facial anomalies syndrome in which the cause of the disease is a mutation in the ZBTB24 gene." "" + "psoriasis 13, susceptibility to" "Any psoriasis in which the cause of the disease is a mutation in the TRAF3IP2 gene." "" + "Hermansky-Pudlak syndrome 3" "Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the HPS3 gene." "" + "Hermansky-Pudlak syndrome without pulmonary fibrosis" "Hermansky-Pudlak syndrome without pulmonary fibrosis as a complication includes three relatively mild types (HPS-3, HPS-5 and HPS-6) of Hermansky-Pudlak syndrome (HPS), a multi-system disorder characterized by ocular or oculocutaneous albinism, bleeding diathesis and, in some cases, granulomatous colitis." "" + "Hermansky-Pudlak syndrome 4" "Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the HPS4 gene." "" + "Hermansky-Pudlak syndrome 5" "Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the HPS5 gene." "" + "Hermansky-Pudlak syndrome 6" "Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the HPS6 gene." "" + "Hermansky-Pudlak syndrome 7" "Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the DTNBP1 gene." "" + "Hermansky-Pudlak syndrome 8" "Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the BLOC1S3 gene." "" + "chondrodysplasia with joint dislocations, gPAPP type" "" + "aspergillosis, susceptibility to" "" + "multiple congenital anomalies-hypotonia-seizures syndrome 1" "Any multiple congenital anomalies/dysmorphic syndrome-intellectual disability in which the cause of the disease is a mutation in the PIGN gene." "" + "anhaptoglobinemia" "" + "Fanconi anemia complementation group G" "Fanconi anemia caused by mutations of the FANCG gene." "" + "Fanconi anemia complementation group L" "Any Fanconi anemia in which the cause of the disease is a mutation in the FANCL gene." "" + "atrial septal defect 3" "Any atrial heart septal defect in which the cause of the disease is a mutation in the MYH6 gene." "" + "sick sinus syndrome 3, susceptibility to" "Any familial sick sinus syndrome in which the cause of the disease is a mutation in the MYH6 gene." "" + "short-rib thoracic dysplasia 7 with or without polydactyly" "An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the WDR35 gene on chromosome 2p21.1." "" + "combined oxidative phosphorylation defect type 8" "Combined oxidative phosphorylation defect type 8 is a mitochondrial disease due to a defect in mitochondrial protein synthesis resulting in deficiency of respiratory chain complexes I, III and IV in the cardiac and skeletal muscle and brain characterized by severe hypertrophic cardiomyopathy, pulmonary hypoplasia, generalized muscle weakness and neurological involvement." "" + "acatalasia" "A congenital disorder resulting from a deficiency in erythrocyte catalase, an enzyme responsible for the breakdown of hydrogen peroxide." "" + "Keppen-Lubinsky syndrome" "" + "cranioectodermal dysplasia 3" "Any cranioectodermal dysplasia in which the cause of the disease is a mutation in the IFT43 gene." "" + "cutis laxa - Marfanoid syndrome" "" + "plasma fibronectin deficiency" "" + "recurrent infections associated with rare immunoglobulin isotypes deficiency" "Deficiencies in immunoglobulin (Ig) isotypes (including: isolated IgG subclass deficiency, IgG sublcass deficiency with IgA deficiency and kappa chain deficiency) are primary immunodeficiencies that are often asymptomatic but can be characterized by recurrent, often pyogenic, sinopulmonary infections." "" + "Lipedema" "Disorder of adipose tissue characterized by symmetric and bilateral enlargement of the lower extremities due to abnormal deposition of subcutaneous fat often in obese women. It is associated with hematoma, pain and may progress to secondary lymphedema which is known as lipolymphedema." "" + "DYRK1A-related intellectual disability syndrome" "An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of DYRK1A on chromosome 21q22.13." "" + "methylmalonate semialdehyde dehydrogenase deficiency" "" + "pyruvate dehydrogenase E1-beta deficiency" "Pyruvate dehydrogenase E1-beta deficiency is an extremely rare form of pyruvate dehydrogenase deficiency (PDHD) characterized by severe lactic acidosis, developmental delay and hypotonia." "" + "intellectual disability, autosomal dominant 2" "Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the DOCK8 gene." "" + "mosaic variegated aneuploidy syndrome 2" "Any mosaic variegated aneuploidy syndrome in which the cause of the disease is a mutation in the CEP57 gene." "" + "occipital pachygyria and polymicrogyria" "" + "hereditary sensory neuropathy-deafness-dementia syndrome" "A hereditary sensory neuropathy characterized by adult onset of progressive peripheral sensory loss, progressive hearing impairment, and early-onset dementia that has material basis in heterozygous mutation in the DNMT1 gene on chromosome 19p13." "" + "hydrolethalus syndrome 2" "Any hydrolethalus syndrome in which the cause of the disease is a mutation in the KIF7 gene." "" + "Chitotriosidase deficiency" "True" + "glycogen storage disease due to lactate dehydrogenase H-subunit deficiency" "A condition that affects how the body breaks down sugar to use as energy in muscle cells. Unlike people with lactate dehydrogenase A deficiency, people with this condition typically do not have any signs or symptoms. It is unclear why this condition does not cause any health problems. Affected people are usually diagnosed when routine blood tests reveal reduced activity of the enzyme lactate dehydrogenase. LDHBD is caused by mutations in the LDHB gene and is inherited in an autosomal recessive manner." "" + "Perrault syndrome 3" "Any Perrault syndrome in which the cause of the disease is a mutation in the CLPP gene." "" + "focal segmental glomerulosclerosis 6" "Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the MYO1E gene." "" + "Stickler syndrome, type 4" "Any autosomal recessive Stickler syndrome in which the cause of the disease is a mutation in the COL9A1 gene." "" + "autosomal recessive Stickler syndrome" "A rare type of Stickler syndrome characterized by moderate to severe sensorineural hearing loss, high myopia, retinal degeneration, vitreous anomalies, and epiphyseal dysplasia. Midface hypoplasia, cleft palate, as well as additional skeletal manifestations (such as platyspondyly, scoliosis, and tibial and femoral bowing at birth) have also been observed." "" + "epiphyseal dysplasia, multiple, 6" "Any multiple epiphyseal dysplasia in which the cause of the disease is a mutation in the COL9A1 gene." "" + "nonsyndromic congenital nail disorder 9" "" + "autosomal dominant nonsyndromic hearing loss 64" "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the DIABLO gene." "" + "spinocerebellar ataxia type 36" "Spinocerebellar ataxia type 36 (SCA36) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1) characterized by gait and limb ataxia, lower limb spasticity, dysarthria, muscle fasiculations, tongue atrophy and hyperreflexia." "" + "hyperbiliverdinemia" "Hyperbiliverdinemia is a rare, genetic hepatic disease characterized by the presence of green coloration of the skin, urine, plasma and other body fluids (ascites, breastmilk) or parts (sclerae) due to increased serum levels of biliverdin in association with biliary obstruction and/or liver failure. Association with malnutrition, medication, and congenital biliary atresia has also been reported." "" + "obsolete nonsyndromic congenital nail disorder 10" "" "true" + "platelet-type bleeding disorder 14" "Any inherited bleeding disorder, platelet-type in which the cause of the disease is a mutation in the TBXAS1 gene." "" + "myostatin-related muscle hypertrophy" "Myostatin-related muscle hypertrophy is a rare condition characterized by reduced body fat and increased muscle size. Affected individuals have up to twice the usual amount of muscle mass in their bodies. They also tend to have increased muscle strength. This condition is not known to cause any medical problems, and affected individuals are intellectually normal. Myostatin-related muscle hypertrophy is caused by mutations in the MSTN gene. It follows an incomplete autosomal dominant pattern of inheritance." "" + "autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome" "Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome is an extremely rare, autosomal dominant immunological disorder characterized by variable enteropathy, endocrine disorders (e.g. type 1 diabetes mellitus, hypothyroidism), immune dysregulation with pulmonary and blood-borne bacterial infections, and fungal infections (chronic mucocutaneous candidiasis) developing in infancy. Other manifestations include short stature, eczema, hepatosplenomegaly, delayed puberty, and osteoporosis/osteopenia." "" + "gluthathione peroxidase deficiency" "" + "paragangliomas 5" "Any paraganglioma in which the cause of the disease is a mutation in the SDHA gene." "" + "myopia 20, autosomal dominant" "" + "myopia 21, autosomal dominant" "Any myopia (disease) in which the cause of the disease is a mutation in the ZNF644 gene." "" + "brittle cornea syndrome 2" "Any brittle cornea syndrome in which the cause of the disease is a mutation in the PRDM5 gene." "" + "Hermansky-Pudlak syndrome 9" "Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the BLOC1S6 gene." "" + "monocytopenia with susceptibility to infections" "" + "Joubert syndrome 13" "Any Joubert syndrome in which the cause of the disease is a mutation in the TCTN1 gene." "" + "Meckel syndrome, type 10" "Any Meckel syndrome in which the cause of the disease is a mutation in the B9D2 gene." "" + "retinitis pigmentosa 61" "Any retinitis pigmentosa in which the cause of the disease is a mutation in the CLRN1 gene." "" + "retinitis pigmentosa 62" "Any retinitis pigmentosa in which the cause of the disease is a mutation in the MAK gene." "" + "Geleophysic dysplasia 2" "Any geleophysic dysplasia in which the cause of the disease is a mutation in the FBN1 gene." "" + "Leber congenital amaurosis 16" "Any Leber congenital amaurosis in which the cause of the disease is a mutation in the KCNJ13 gene." "" + "hypertelorism-preauricular sinus-punctual pits-deafness syndrome" "" + "craniosynostosis and dental anomalies" "" + "pigmented nodular adrenocortical disease, primary, 3" "Any primary pigmented nodular adrenocortical disease in which the cause of the disease is a mutation in the PDE8B gene." "" + "overgrowth-macrocephaly-facial dysmorphism syndrome" "This syndrome is characterised by tall stature, learning difficulties and facial dysmorphism." "True" + "craniofacial anomalies and anterior segment dysgenesis syndrome" "" + "nephrotic syndrome, type 6" "Any nephrotic syndrome in which the cause of the disease is a mutation in the PTPRO gene." "" + "congenital myasthenic syndrome 16" "Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the SCN4A gene." "" + "SCN4A-related myopathy, autosomal recessive" "Any congenital myopathy in which the cause of the disease is a mutation in the SCN4A gene. It include is a spectrum of autosomal recessive disorders including congenital myasthenic syndrome, fetal hypokinesia, and congenital myopathy." "" + "platelet-type bleeding disorder 9" "Any inherited bleeding disorder, platelet-type in which the cause of the disease is a mutation in the ITGA2 gene." "" + "bleeding diathesis due to a collagen receptor defect" "" + "platelet-type bleeding disorder 11" "Any inherited bleeding disorder, platelet-type in which the cause of the disease is a mutation in the GP6 gene." "" + "Rafiq syndrome" "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the MAN1B1 gene." "" + "Parkinson disease 17" "Any Parkinson disease in which the cause of the disease is a mutation in the VPS35 gene." "" + "psoriasis 14, pustular" "Any psoriasis in which the cause of the disease is a mutation in the IL36RN gene." "" + "obsolete unclassified genetic skin disorder" "" "true" + "3M syndrome 3" "Any 3-M syndrome in which the cause of the disease is a mutation in the CCDC8 gene." "" + "hyperphosphatasia with intellectual disability syndrome 3" "Any hyperphosphatasia-intellectual disability syndrome in which the cause of the disease is a mutation in the PGAP2 gene." "" + "intellectual disability, autosomal recessive 16" "" + "Meckel syndrome, type 9" "Any Meckel syndrome in which the cause of the disease is a mutation in the B9D1 gene." "" + "lung cancer susceptibility 5" "" + "autosomal dominant nonsyndromic hearing loss 33" "An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 13q34." "" + "encephalopathy, acute, infection-induced, susceptibility to, 4" "Any encephalopathy, acute, infection-induced in which the cause of the disease is a mutation in the CPT2 gene." "" + "acute necrotizing encephalopathy of childhood" "Acute necrotizing encephalopathy of childhood is a rare neurologic disease characterized by a rapid onset of seizures, an altered state of consciousness, neurologic decline, and variable degrees of hepatic dysfunction following a respiratory or gastrointesitnal infection (e.g. mycoplasma, influenza virus) in a previously healthy child. Brain MRI of patients reveals bilateral, multiple, symmetrical lesions predominantly observed in thalami and brainstem, but also in periventricular white matter and cerebellum in some cases." "" + "neuropathy, hereditary sensory, type 2C" "Any hereditary sensory and autonomic neuropathy type 2 in which the cause of the disease is a mutation in the KIF1A gene." "" + "Adams-Oliver syndrome 2" "Any Adams-Oliver syndrome in which the cause of the disease is a mutation in the DOCK6 gene." "" + "primary biliary cholangitis 4" "" + "primary biliary cholangitis 5" "" + "Warburg micro syndrome 3" "Any Warburg micro syndrome in which the cause of the disease is a mutation in the RAB18 gene." "" + "narcolepsy 6, susceptibility to" "" + "familial retinal arterial macroaneurysm" "" + "Warburg micro syndrome 2" "Any Warburg micro syndrome in which the cause of the disease is a mutation in the RAB3GAP2 gene." "" + "holoprosencephaly 11" "Any holoprosencephaly in which the cause of the disease is a mutation in the CDON gene." "" + "hyperuricemic nephropathy, familial juvenile type 3" "" + "Charcot-Marie-Tooth disease axonal type 2O" "Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the DYNC1H1 gene." "" + "autosomal recessive spinocerebellar ataxia 11" "Any autosomal recessive syndromic cerebellar ataxia in which the cause of the disease is a mutation in the SYT14 gene." "" + "chromosome 8q21.11 deletion syndrome" "8q21.11 microdeletion syndrome encompasses heterozygous overlapping microdeletions on chromosome 8q21.11 resulting in intellectual disability, facial dysmorphism comprising a round face, ptosis, short philtrum, Cupid's bow and prominent low-set ears, nasal speech and mild finger and toe anomalies." "" + "obsolete primary microcephaly-epilepsy-permanent neonatal diabetes syndrome" "" "true" + "hypotrichosis 9" "A hypotrichosis that has material basis in an autosomal recessive mutation on chromosome 10q11.23-q22.3." "" + "hypotrichosis 10" "A hypotrichosis that has material basis in an autosomal recessive mutation on chromosome 7p22.3-p21.3." "" + "intellectual disability, autosomal recessive 18" "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the MED23 gene." "" + "narcolepsy 7" "Any narcolepsy in which the cause of the disease is a mutation in the MOG gene." "" + "Parkinson disease 18, autosomal dominant, susceptibility to" "Any hereditary late onset Parkinson disease in which the cause of the disease is a mutation in the EIF4G1 gene." "" + "aneurysm, intracranial berry, 11" "" + "intellectual disability, autosomal dominant 8" "Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the GRIN1 gene." "" + "intellectual disability, autosomal dominant 9" "An autosomal dominant condition caused by mutation(s) in the KIF1A gene, encoding kinesin-like protein KIF1A. It is characterized by microcephaly, intellectual disability, and delayed psychomotor development. The condition is progressive, occurs in early infancy, and is of variable severity." "" + "intellectual disability, autosomal dominant 10" "Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the CACNG2 gene." "" + "intellectual disability, autosomal dominant 11" "Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the EPB41L1 gene." "" + "microcephaly-capillary malformation syndrome" "" + "arthrogryposis, Perthes disease, and upward gaze palsy" "" + "combined malonic and methylmalonic acidemia" "Combined malonic and methylmalonic acidemia is a rare inborn error of metabolism characterized by elevation of malonic acid (MA) and methylmalonic acid (MMA) in body fluids, with higher levels of MMA than MA. CMAMMA presents in childhood with metabolic acidosis, developmental delay, dystonia and failure to thrive or in adulthood with seizures, memory loss and cognitive decline." "" + "Barrett esophagus" "Esophageal lesion lined with columnar metaplastic epithelium which is flat or villiform. Barrett epithelium is characterized by two different types of cells: goblet cells and columnar cells. The symptomatology of Barrett esophagus is that of gastro-esophageal reflux. It is the precursor of most esophageal adenocarcinomas. (WHO)" "" + "platelet-activating factor acetylhydrolase deficiency" "" + "46,XY disorder of sex development due to testicular 17,20-desmolase deficiency" "" + "46,XY disorder of sexual development due to dihydrotestosterone backdoor pathway biosynthesis defect" "True" + "46,XY disorder of sex development due to isolated 17,20-lyase deficiency" "46,XY disorder of sex development due to isolated 17,20-lyase deficiency is a rare disorder of sex development due to reduced 17,20-lyase activity that affects individuals with 46,XY karyotype and is characterized by ambiguous external genitalia, including micropenis, perineal hypospadias, bifid scrotum, cryptorchidism, and a blind vaginal pouch. Blood pressure and electrolytes are normal whilst hormonal investigations show normal basal and stimulated levels of cortisol, and low basal and stimulated androgen levels." "" + "epilepsy, juvenile myoclonic, susceptibility to, 9" "" + "Stickler syndrome, type 5" "Any autosomal recessive Stickler syndrome in which the cause of the disease is a mutation in the COL9A2 gene." "" + "obsolete myelodysplastic syndrome" "" "true" + "tetrasomy 18p" "Tetrasomy 18p is a very rare structural chromosomal anomaly affecting multiple body systems and characterized clinically by craniofacial abnormalities, delayed development, cognitive impairment, changes in muscle tone, distinctive facial features, and rarely renal malformations." "" + "partial trisomy/tetrasomy of the short arm of chromosome 18" "" + "breast-ovarian cancer, familial, susceptibility to, 4" "Any hereditary breast ovarian cancer syndrome in which the cause of the disease is a mutation in the RAD51D gene." "" + "myopia, high, with cataract and vitreoretinal degeneration" "" + "hydatidiform mole, recurrent, 2" "Any complete hydatidiform mole in which the cause of the disease is a mutation in the KHDC3L gene." "" + "chromosome 15q25 deletion syndrome" "" + "Wolfram-like syndrome" "Wolfram-like syndrome is a rare endocrine disease characterized by the triad of adult-onset diabetes mellitus, progressive hearing loss (usually presenting in the first decade of life and principally of low to moderate frequencies), and/or juvenile-onset optic atrophy. Psychiatric (i.e. anxiety, depression, hallucinations) and sleep disorders, the only neurologic abnormalities observed in this disease, have been reported in rare cases. Unlike Wolfram syndrome, patients with Wolfram-like syndrome do not report endocrine or cardiac findings." "" + "neurodegeneration with brain iron accumulation 4" "Mitochondrial membrane protein-sssociated neurodegeneration (MPAN), also known as neurogeneration with brain iron accumulation (NBIA) due to C19orf12 mutations, is an autosomal recessive neurodegenerative disorder characterized by iron accumulation in specific regions of the brain, usually the basal ganglia, and associated with slowly progressive pyramidal (spasticity) and extrapyramidal (dystonia) signs, motor axonal neuropathy, optic atrophy, cognitive decline, and neuropsychiatric abnormalities." "" + "multiple mitochondrial dysfunctions syndrome 2" "Any fatal multiple mitochondrial dysfunctions syndrome in which the cause of the disease is a mutation in the BOLA3 gene." "" + "obsolete hypermethioninemia due to adenosine kinase deficiency" "" "true" + "Emery-Dreifuss muscular dystrophy 7, autosomal dominant" "Any autosomal dominant Emery-Dreifuss muscular dystrophy in which the cause of the disease is a mutation in the TMEM43 gene." "" + "EDICT syndrome" "EDICT (endothelial dystrophy-iris hypoplasia-congenital cataract-stromal thinning) syndrome is a very rare eye disorder representing a constellation of autosomal dominantly inherited ocular findings, including early-onset or congenital cataracts, corneal stromal thinning, early-onset keratoconus, corneal endothelial dystrophy, and iris hypoplasia." "" + "sclerosteosis 2" "Any sclerosteosis in which the cause of the disease is a mutation in the LRP4 gene." "" + "cognitive impairment with or without cerebellar ataxia" "" + "vesicoureteral reflux 4" "" + "vesicoureteral reflux 5" "" + "vesicoureteral reflux 6" "" + "pancreatic cancer, susceptibility to, 4" "Any familial pancreatic carcinoma in which the cause of the disease is a mutation in the BRCA1 gene." "" + "distal myopathy, Tateyama type" "Distal myopathy, Tateyama type is a rare, genetic, slowly progressive, distal myopathy disorder characterized by muscle atrophy and weakness limited to the small muscles of the hands and feet (in particular, thenar and hypothenar muscle atrophy), increased serum creatine kinase, and severely reduced caveolin-3 expression on muscle biopsy. Some patients may also show calf hypertrophy, pes cavus, and signs of muscle hyperexcitability." "" + "autosomal recessive spinocerebellar ataxia 12" "Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency is a rare autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome characterized by early-childhood onset of cerebellar ataxia associated with generalized tonic-clonic epilepsy and psychomotor development delay, dysarthria, gaze-evoked nystagmus and learning disability. Other features in some patients include upper motor neuron signs with leg spasticity and extensor plantar responses, and mild cerebellar atrophy on brain MRI." "" + "autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome" "" + "linear and whorled nevoid hypermelanosis" "Linear and whorled nevoid hypermelanosis (LWNH) is a rare skin condition characterized by swirling streaks of hyperpigmented (darkened) skin. The pigmentation follows the lines of Blashko and is mainly located on the trunk and limbs. It is present at birth or appears in the first few weeks of life. It typically progresses for one to two years and then stabilizes. Hyperpigmentation is usually the only symptom but there are isolated reports of other symptoms, involving mostly the central nervous system, musculoskeletal system, and heart. While most cases of LWNH are sporadic, apparent genetic transmission rarely has been described. A few people with LWNH have been diagnosed with chromosomal mosaicism." "" + "ovarian dysgenesis 3" "Any 46 XX gonadal dysgenesis in which the cause of the disease is a mutation in the PSMC3IP gene." "" + "Pitt-Hopkins-like syndrome 2" "Any Pitt-Hopkins-like syndrome in which the cause of the disease is a mutation in the NRXN1 gene." "" + "Feingold syndrome type 2" "Feingold syndrome type 2 (FS2) is a rare inherited malformation syndrome characterized by skeletal abnormalities and mild intellectual disabilities similar to those seen in Feingold syndrome type 1 (FS1) but that lacks the manifestations of gastrointestinal atresia and short palpebral fissures." "" + "BAP1-related tumor predisposition syndrome" "BAP1-related tumor predisposition syndrome (TPDS) is an inherited cancer-predisposing syndrome, associated with germline mutations in BAP1 tumor suppressor gene. The most commonly observed cancer types include uveal melanoma, malignant mesothelioma, renal cell carcinoma, lung, ovarian, pancreatic, breast cancer and meningioma, with variable age of onset. Common cutaneous manifestations include malignant melanoma, basal cell carcinoma and benign melanocytic BAP1-mutated atypical intradermal tumors (MBAIT) presenting as multiple skin-coloured to reddish-brown dome-shaped to pedunculated, well-circumscribed papules with an average size of 5 mm, histologically predominantly composed of epithelioid melanocytes with abundant amphophilic cytoplasm, prominent nucleoli and large, vesicular nuclei that vary substantially in size and shape." "" + "inflammatory skin and bowel disease, neonatal, 1" "Any neonatal inflammatory skin and bowel disease in which the cause of the disease is a mutation in the ADAM17 gene." "" + "neonatal inflammatory skin and bowel disease" "Neonatal inflammatory skin and bowel disease is a rare, life-threatening, autoinflammatory syndrome with immune deficiency disorder characterized by early-onset, life-long inflammation, affecting the skin and bowel, associated with recurrent infections. Patients present perioral and perianal psoriasiform erythema and papular eruption with pustules, failure to thrive associated with chronic malabsorptive diarrhea, intercurrent gastrointestinal infections and feeding troubles, as well as absent, short or broken hair and trichomegaly. Recurrent cutaneous and pulmonary infections lead to recurrent blepharitis, otitis externa and bronchiolitis." "" + "intellectual disability, autosomal recessive 31" "" + "colorectal cancer, hereditary nonpolyposis, type 6" "Any hereditary nonpolyposis colon cancer in which the cause of the disease is a mutation in the TGFBR2 gene." "" + "chromosome 2P16.3 deletion syndrome" "" + "intellectual disability, autosomal recessive 29" "" + "arthrogryposis, distal, type 1B" "" + "colorectal cancer, hereditary nonpolyposis, type 4" "Any hereditary nonpolyposis colon cancer in which the cause of the disease is a mutation in the PMS2 gene." "" + "pancreatic triacylglycerol lipase deficiency" "An autosomal recessive disorder caused by mutation(s) in the PNLIP gene, encoding pancreatic triacylglycerol lipase. The condition is characterized by absent or reduced pancreatic lipase." "" + "disorder of lipid absorption and transport" "" + "obsolete MRT32" "" "true" + "intellectual disability, autosomal recessive 27" "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the LINS1 gene." "" + "intellectual disability, autosomal recessive 33" "" + "intellectual disability, autosomal recessive 30" "" + "intellectual disability, autosomal recessive 19" "" + "intellectual disability, autosomal recessive 23" "" + "intellectual disability, autosomal recessive 24" "" + "intellectual disability, autosomal recessive 25" "" + "intellectual disability, autosomal recessive 28" "" + "colorectal cancer, hereditary nonpolyposis, type 5" "Any hereditary nonpolyposis colon cancer in which the cause of the disease is a mutation in the MSH6 gene." "" + "peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome" "" + "surfactant metabolism dysfunction, pulmonary, 5" "Any hereditary pulmonary alveolar proteinosis in which the cause of the disease is a mutation in the CSF2RB gene." "" + "dengue virus, susceptibility to" "" + "mannose-binding lectin deficiency" "" + "amyotrophic lateral sclerosis type 16" "Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the SIGMAR1 gene." "" + "aortic aneurysm, familial abdominal, 4" "" + "asphyxiating thoracic dystrophy 5" "Any Jeune syndrome in which the cause of the disease is a mutation in the WDR19 gene." "" + "nephronophthisis 13" "A nephronophthisis that has material basis in homozygous or compound heterozygous mutation in the WDR19 gene on chromosome 4p14." "" + "cranioectodermal dysplasia 4" "" + "complement component 4b deficiency" "Any classic complement early component deficiency in which the cause of the disease is a mutation in the C4B gene." "" + "complement component 4a deficiency" "Any classic complement early component deficiency in which the cause of the disease is a mutation in the C4A gene." "" + "hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism" "Any leukodystrophy in which the cause of the disease is a mutation in the POLR3B gene." "" + "hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome" "Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome is characterised by the association of demyelinating leukodystrophy with progressive cerebellar ataxia, hypogonadotropic hypogonadism and hypodontia." "" + "bacteremia, susceptibility to, 1" "Any bacteremia, susceptibility in which the cause of the disease is a mutation in the TIRAP gene." "" + "bacteremia, susceptibility to, 2" "Any bacteremia, susceptibility in which the cause of the disease is a mutation in the CISH gene." "" + "colorectal cancer, hereditary nonpolyposis, type 7" "Any hereditary nonpolyposis colon cancer in which the cause of the disease is a mutation in the MLH3 gene." "" + "encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1" "" + "encephalopathy due to mitochondrial and peroxisomal fission defect" "" + "pregnancy loss, recurrent, susceptibility to, 1" "Any pregnancy loss, recurrent, susceptibility in which the cause of the disease is a mutation in the F5 gene." "" + "pregnancy loss, recurrent, susceptibility to, 2" "Any pregnancy loss, recurrent, susceptibility in which the cause of the disease is a mutation in the F2 gene." "" + "pregnancy loss, recurrent, susceptibility to, 3" "Any pregnancy loss, recurrent, susceptibility in which the cause of the disease is a mutation in the ANXA5 gene." "" + "MEGF10-Related Myopathy" "" + "glucocorticoid therapy, response to" "" + "accelerated tumor formation, susceptibility to" "" + "microphthalmia, syndromic 11" "Any syndromic microphthalmia in which the cause of the disease is a mutation in the VAX1 gene." "" + "microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome" "Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome is a rare, genetic congenital anomalies/dysmorphic syndrome characterized by growth failure, global developmental delay, profound intellectual disability, autistic behaviors, acquired second-degree heart block with bradycardia and vasomotor instability. Hands and feet present with long fusiform fingers, campto-clinodactyly and crowded toes while craniofacial dysmorphism includes microcephaly, broad forehead, thin eyebrows, upslanting palpebral fissures, large ears with prominent antihelix, prominent nose, long philtrum, thin upper lip vermillion and prominent lower lip. Neurological signs include hypotonia, brisk reflexes, dystonic-like movements and truncal ataxia and imaging shows cerebellar hypoplasia and simplified gyral pattern." "" + "myopathy, centronuclear, 3" "Any autosomal dominant centronuclear myopathy in which the cause of the disease is a mutation in the MYF6 gene." "" + "hereditary spastic paraplegia 46" "A rare, complex type of hereditary spastic paraplegia characterized by an onset, in infancy or childhood, of the typical signs of spastic paraplegia (i.e. spastic gait and weakness of the lower limbs) associated with a variety of additional manifestations including upper limb spasticity and weakness, pseudobulbar dysarthria, bladder dysfunction, cerebellar ataxia, cataracts, and cognitive impairment that can progress to dementia. Brain imaging may show thinning of the corpus callosum and mild atrophy of the cerebrum and cerebellum. SPG46 is due to mutations in the GBA2 gene (9p13.2) encoding non-lysosomal glucosylceramidase." "" + "autosomal recessive nonsyndromic hearing loss 96" "An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 1p36.31-p36.13." "" + "chilblain lupus 2" "Any chilblain lupus in which the cause of the disease is a mutation in the SAMHD1 gene." "" + "lethal occipital encephalocele-skeletal dysplasia syndrome" "Lethal occipital encephalocele-skeletal dysplasia syndrome is a rare, genetic, bone development disorder characterized by occipital and parietal bone hypoplasia leading to occipital encephalocele, calvarial mineralization defects, craniosynostosis, radiohumeral fusions, oligodactyly and other skeletal anomalies (arachnodactyly, terminal phalangeal aplasia of the thumbs, bilateral absence of the great toes, pronounced bilateral angulation of femora, shortened limbs, advanced osseous maturation). Fetal death in utero is associated." "" + "familial temporal lobe epilepsy 5" "A temporal lobe epilepsy that has material basis in heterozygous mutation in the CPA6 gene on chromosome 8q13." "" + "familial mesial temporal lobe epilepsy with febrile seizures" "" + "autosomal systemic lupus erythematosus type 16" "An instance of systemic lupus erythematosus (disease) that is caused by mutations in DNASE1L3." "" + "cataract 37" "A cataract that has material basis in variation in the region 12q24.2-q24.3." "" + "Joubert syndrome 14" "Any Joubert syndrome in which the cause of the disease is a mutation in the TMEM237 gene." "" + "ventricular septal defect 1" "Any ventricular septal defect in which the cause of the disease is a mutation in the GATA4 gene." "" + "atrioventricular septal defect 4" "Any atrioventricular septal defect in which the cause of the disease is a mutation in the GATA4 gene." "" + "ventricular septal defect 2" "Any ventricular septal defect in which the cause of the disease is a mutation in the CITED2 gene." "" + "ventricular septal defect 3" "Any ventricular septal defect in which the cause of the disease is a mutation in the NKX2-5 gene." "" + "atrial septal defect 8" "Any atrial heart septal defect in which the cause of the disease is a mutation in the CITED2 gene." "" + "cutis laxa, autosomal dominant 2" "Any autosomal dominant cutis laxa in which the cause of the disease is a mutation in the FBLN5 gene." "" + "hypoplastic left heart syndrome 2" "Any hypoplastic left heart syndrome in which the cause of the disease is a mutation in the NKX2-5 gene." "" + "Charcot-Marie-Tooth disease axonal type 2P" "Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the LRSAM1 gene." "" + "cutis laxa, autosomal recessive, type 1B" "An autosomal recessive cutis laxa type I characterized by disturbed elastic fiber formation resulting in severe systemic connective tissue abnormalities that has material basis in homozygous or compound heterozygous mutation in the EFEMP2 gene on chromosome 11q13." "" + "PYCR1-related de Barsy syndrome" "Any de Barsy syndrome in which the cause of the disease is a mutation in the PYCR1 gene." "" + "hypertrophic osteoarthropathy, primary, autosomal recessive, 2" "Any primary hypertrophic osteoarthropathy in which the cause of the disease is a mutation in the SLCO2A1 gene." "" + "congenital nongoitrous hypothryoidism 6" "Any hypothyroidism, congenital, nongoitrous in which the cause of the disease is a mutation in the THRA gene." "" + "Charcot-Marie-Tooth disease dominant intermediate E" "Autosomal dominant intermediate Charcot-Marie-Tooth disease type E is characterised by the association of Charcot-Marie-Tooth disease (hereditary peripheral neuropathy) with nephropathy. So far, around 15 cases have been described. All patients had proteinuria (with or without microhematuria) at onset and some patients presented with nephrotic syndrome. In the majority of cases, pathological studies revealed glomerulosclerosis. The mode of transmission is unknown." "" + "melanoma, cutaneous malignant, susceptibility to, 8" "An inherited cancer-predisposing syndrome due to a gain-of-function germline mutation in the MITF gene, associated with a higher incidence of amelanotic and nodular melanoma, multiple primary melanomas and increase in nevus number and size. It may also predispose to co-occurring melanoma and renal cell carcinoma and to pancreatic cancer." "" + "congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome" "" + "childhood encephalopathy due to thiamine pyrophosphokinase deficiency" "" + "lipoic acid synthetase deficiency" "Lipoic acid synthetase deficiency is a rare condition that affects the mitochondria. Mitochondria are tiny structures found in almost every cell of the body. They are responsible for creating most of the energy necessary to sustain life and support growth. People affected by this condition generally experience early-onset lactic acidosis, severe encephalopathy, seizures, poor growth, hypotonia, and developmental delay. It is caused by changes (mutations) in the LIAS gene and it is inherited in an autosomal recessive pattern. Treatment is based on the signs and symptoms present in each person." "" + "Joubert syndrome 15" "Any Joubert syndrome in which the cause of the disease is a mutation in the CEP41 gene." "" + "Joubert syndrome 16" "Any Joubert syndrome in which the cause of the disease is a mutation in the TMEM138 gene." "" + "coronary heart disease, susceptibility to, 6" "Any coronary artery disease in which the cause of the disease is a mutation in the MMP3 gene." "" + "familial cold autoinflammatory syndrome 3" "PLCG2-associated antibody deficiency and immune dysregulation is a rare, hereditary, immune deficiency with skin involvement characterized by early-onset cold urticaria after generalized exposure to cold air or evaporative cooling and not after contact with cold objects. Additional immunologic abnormalities are often present - antibody deficiency, recurrent infections, autoimmune disease and symptomatic allergic disease." "" + "autoimmune lymphoproliferative syndrome type 4" "RAS-associated autoimmune leukoproliferative disease (RALD) is a rare genetic disorder characterized by monocytosis, autoimmune cytopenias, lymphoproliferation, hepatosplenomegaly, and hypergammaglobulinemia." "" + "arterial calcification, generalized, of infancy, 2" "Any arterial calcification of infancy in which the cause of the disease is a mutation in the ABCC6 gene." "" + "atrioventricular septal defect 5" "Any atrioventricular septal defect in which the cause of the disease is a mutation in the GATA6 gene." "" + "atrial septal defect 9" "Any atrial heart septal defect in which the cause of the disease is a mutation in the GATA6 gene." "" + "transient infantile hypertriglyceridemia and hepatosteatosis" "" + "congenital cataract-hearing loss-severe developmental delay syndrome" "" + "porencephaly 2" "Any porencephaly in which the cause of the disease is a mutation in the COL4A2 gene." "" + "trigonocephaly 2" "Any isolated trigonocephaly in which the cause of the disease is a mutation in the FREM1 gene." "" + "thrombomodulin-related bleeding disorder" "" + "spastic ataxia 5" "Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome is a rare hereditary spastic ataxia disorder characterized by childhood onset of slowly progressive lower limb spastic paraparesis and cerebellar ataxia (with dysarthria, swallowing difficulties, motor degeneration), associated with sensorimotor neuropathy (including muscle weakness and distal amyotrophy in lower extremities) and progressive myoclonic epilepsy. Ocular signs (ptosis, oculomotor apraxia), dysmetria, dysdiadochokinesia, dystonic movements and myoclonus may also be associated." "" + "pseudohypoaldosteronism type 2B" "Any pseudohypoaldosteronism type 2 in which the cause of the disease is a mutation in the WNK4 gene." "" + "pseudohypoaldosteronism type 2C" "Any pseudohypoaldosteronism type 2 in which the cause of the disease is a mutation in the WNK1 gene." "" + "Wiskott-Aldrich syndrome 2" "Any Wiskott-Aldrich syndrome in which the cause of the disease is a mutation in the WIPF1 gene." "" + "retinitis pigmentosa 63" "A retinitis pigmentosa that has material basis in variation in the chromosome region 6q23." "" + "pseudohypoaldosteronism type 2D" "Any pseudohypoaldosteronism type 2 in which the cause of the disease is a mutation in the KLHL3 gene." "" + "pseudohypoaldosteronism type 2E" "Any pseudohypoaldosteronism type 2 in which the cause of the disease is a mutation in the CUL3 gene." "" + "microphthalmia, isolated, with coloboma 7" "Any microphthalmia, isolated, with coloboma in which the cause of the disease is a mutation in the ABCB6 gene." "" + "lethal neonatal spasticity-epileptic encephalopathy syndrome" "" + "intellectual disability, autosomal recessive 34" "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the CRADD gene." "" + "cone-rod dystrophy 16" "Any cone-rod dystrophy in which the cause of the disease is a mutation in the C8orf37 gene." "" + "psychomotor retardation, epilepsy, and craniofacial dysmorphism" "" + "Usher syndrome type 3B" "Any Usher syndrome in which the cause of the disease is a mutation in the HARS gene." "" + "DDOST-CDG" "DDOST-CDG is a form of congenital disorders of N-linked glycosylation characterized by failure to thrive, developmental delay, hypotonia, strabismus and hepatic dysfunction. The disease is caused by mutations in the gene DDOST (1p36.1)." "" + "mirror movements 2" "Any familial congenital mirror movements in which the cause of the disease is a mutation in the RAD51 gene." "" + "thrombophilia due to protein S deficiency, autosomal recessive" "" + "intracerebral hemorrhage" "Bleeding into one or both cerebral hemispheres including the basal ganglia and the cerebral cortex. It is often associated with hypertension and craniocerebral trauma." "" + "encephalomyopathy, mitochondrial, due to voltage-dependent anion channel deficiency" "" + "thrombocythemia 3" "Familial thrombocytosis in which the cause of the disease is a mutation in the JAK2 gene." "" + "fibrochondrogenesis 2" "Any fibrochondrogenesis in which the cause of the disease is a mutation in the COL11A2 gene." "" + "chromosome 17q12 duplication syndrome" "17q12 microduplication syndrome is a rare chromosomal anomaly with variable phenotypic expression and reduced penetrance associated with developmental delay, mild to severe intellectual disability, speech delay, seizures, microcephaly, behavioral abnormalities, autism spectrum disorder, eye or vision defects (such as strabismus, astigmatism, amblyopia, cataract, coloboma, and microphthalmia), non-specific dysmorphic features, hypotonia, cardiac and renal anomalies, schizophrenia." "" + "chromosome 17q12 deletion syndrome" "17q12 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 17 characterized by renal cystic disease, maturity onset diabetes of the young type 5, and neurodevelopmental disorders, such as cognitive impairment, developmental delay (particularly of speech), autistic traits and autism spectrum disorder. Mullerian aplasia in females, macrocephaly, mild facial dysmorphism (high forehead, deep set eyes and chubby cheeks) and transcient hypercalcaemia have also been reported." "" + "chromosome 16q22 deletion syndrome" "" + "partial deletion of the long arm of chromosome 16" "" + "efavirenz, poor metabolism of" "True" + "Ehlers-Danlos syndrome, kyphoscoliotic and deafness type" "A form of Ehlers-Danlos syndrome, characterized by severe generalized hypotonia at birth with severe early-onset kyphoscolosis along with joint hypermobility (without contractures) leading to recurrent dislocations, and sensorineural hearing impairment." "" + "kyphoscoliotic Ehlers-Danlos syndrome" "A rare systemic disease for which two subtypes exist, either related to the gene PLOD1 or FKBP22, and for which the clinically overlapping characteristics include congenital muscle hypotonia, congenital or early-onset kyphoscoliosis (progressive or non-progressive), and generalized joint hypermobility with dislocations/subluxations (in particular of the shoulders, hips, and knees). Additional features which may occur in both subtypes are skin hyperextensibility, easy bruising of the skin, rupture/aneurysm of a medium-sized artery, osteopenia/osteoporosis, blue sclerae, umbilical or inguinal hernia, chest deformity, marfanoid habitus, talipes equinovarus, and refractive errors. Gene-specific features, with variable presentation, are additionally observed in each subtype." "" + "developmental and epileptic encephalopathy, 13" "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SCN8A gene." "" + "undetermined early-onset epileptic encephalopathy" "A rare infantile epilepsy syndrome characterized by early onset of seizures of variable type and severity, potentially associated with a spectrum of clinical signs and symptoms including delay or lack of psychomotor development, intellectual disability, poor or absent speech development, behavioral abnormalities, hypotonia, movement disorders, spasticity, microcephaly, and dysmorphic facial features, among others. Brain imaging findings are also variable and may include cerebral atrophy or white matter abnormalities." "" + "infantile cerebellar-retinal degeneration" "Infantile cerebellar retinal degeneration (ICRD) is a genetic condition present from birth (congenital) that involves the brain and eyes. Individuals with this condition usually develop symptoms around six months of age including developmental delays, low muscle tone (hypotonia), and seizures. Other symptoms may include head bobbing, abnormal muscle twitching and movement, and loss of brain cells in the main part of the brain called the cerebellum. Eye findings in individuals with this condition may include retinal degeneration (weakening of the layer of tissue in the back of the eye that senses light), strabismus (crossed eyes), and nystagmus (fast, uncontrollable movements of the eyes). ICRD is caused by mutations in the ACO2 gene and is inherited in an autosomal recessive manner. While there is still no cure for this condition, treatment options will depend on the type and severity of symptoms." "" + "leukoencephalopathy with calcifications and cysts" "" + "obsolete intellectual disability, autosomal dominant 12" "" "true" + "intellectual disability, autosomal dominant 13" "Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the DYNC1H1 gene." "" + "familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome" "" + "congenital stationary night blindness 1E" "Any congenital stationary night blindness in which the cause of the disease is a mutation in the GPR179 gene." "" + "Maffucci syndrome" "Maffucci syndrome is a very rare genetic bone and skin disorder characterized by multiple enchondromas, leading to bone deformities, combined with multiple dark, irregularly shaped hemangiomas or less commonly lymphangiomas." "" + "cerebellar ataxia, neuropathy, and vestibular areflexia syndrome" "" + "COG6-CGD" "" + "combined oxidative phosphorylation defect type 9" "Combined oxidative phosphorylation defect type 9 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by initially normal growth and development followed by the infantile-onset of failure to thrive, psychomotor delay, poor feeding, dyspnea, severe hypertrophic cardiomyopathy and hepatomegaly. Laboratory studies report increased plasma lactate and alanine, abnormal liver enzymes and decreased activity of mitochondrial respiratory chain complexes I, III, IV, and V." "" + "Baraitser-winter syndrome 2" "Any Baraitser-Winter cerebrofrontofacial syndrome in which the cause of the disease is a mutation in the ACTG1 gene." "" + "dystonia 21" "Primary dystonia, DYT21 type is a subtype of mixed dystonia with a late-onset form of pure torsion dystonia." "" + "podoconiosis, susceptibility to" "" + "FGFR2-related bent bone dysplasia" "" + "obsolete palmoplantar keratoderma, mutilating, with periorificial keratotic plaques" "" "true" + "preeclampsia/eclampsia 5" "Any preeclampsia in which the cause of the disease is a mutation in the CORIN gene." "" + "trichohepatoenteric syndrome 2" "Any tricho-hepato-enteric syndrome in which the cause of the disease is a mutation in the SKIV2L gene." "" + "intellectual disability, autosomal dominant 14" "Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the ARID1A gene." "" + "intellectual disability, autosomal dominant 15" "Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the SMARCB1 gene." "" + "intellectual disability, autosomal dominant 16" "Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the SMARCA4 gene." "" + "acrodysostosis 2 with or without hormone resistance" "Any acrodysostosis in which the cause of the disease is a mutation in the PDE4D gene." "" + "autosomal dominant nonsyndromic hearing loss 4B" "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the CEACAM16 gene." "" + "congenital diarrhea 6" "Any congenital diarrhea in which the cause of the disease is a mutation in the GUCY2C gene." "" + "autosomal recessive nonsyndromic hearing loss 86" "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the TBC1D24 gene." "" + "hyperekplexia 3" "Any hereditary hyperekplexia in which the cause of the disease is a mutation in the SLC6A5 gene." "" + "hyperekplexia 2" "Any hereditary hyperekplexia in which the cause of the disease is a mutation in the GLRB gene." "" + "UV-sensitive syndrome 2" "Any UV-sensitive syndrome in which the cause of the disease is a mutation in the ERCC8 gene." "" + "keratoconus 5" "" + "keratoconus 6" "" + "keratoconus 8" "" + "keratoconus 7" "" + "UV-sensitive syndrome 3" "Any UV-sensitive syndrome in which the cause of the disease is a mutation in the UVSSA gene." "" + "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 7" "Any muscular dystrophy-dystroglycanopathy, type A in which the cause of the disease is a mutation in the ISPD gene." "" + "familial steroid-resistant nephrotic syndrome with sensorineural deafness" "" + "deafness-encephaloneuropathy-obesity-valvulopathy syndrome" "Deafness-encephaloneuropathy-obesity-valvulopathy syndrome is a rare mitochondrial disease with marked clinical variability typically characterized by encephalomyopathy, kidney disease (nephrotic syndrome), optic atrophy, early-onset deafness, pancytopenia, obesity, and cardiac disease (valvulopathy). Additionally, macrocephaly, intellectual disability, hyperlactatemia, elevated lactate/pyruvate ratio, insulin-dependent diabetes, livedo reticularis, liver dysfunction and seizures have also been associated." "" + "coenzyme Q10 deficiency, primary, 3" "Any coenzyme Q10 deficiency in which the cause of the disease is a mutation in the PDSS2 gene." "" + "hereditary sensory and autonomic neuropathy type 6" "Any hereditary sensory and autonomic neuropathy in which the cause of the disease is a mutation in the DST gene." "" + "encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome" "Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome is a rare mitochondrial disease due to a defect in coenzyme Q10 biosynthesis that manifests with a broad spectrum of signs and symptoms which may include: neonatal lactic acidosis, global developmental delay, tonus disorder, seizures, reduced spontaneous movements, ventricular hypertrophy, bradycardia, renal tubular dysfunction with massive lactic acid excretion in urine, severe biochemical defect of respiratory chain complexes II/III when assayed together and deficiency of coenzyme Q10 in skeletal muscle. Cerebral and cerebellar atrophy can be seen on magnetic resonance imaging and multiple choroid plexus cysts and symmetrical hyperechoic signal alterations in basal ganglia have been observed on ultrasound." "" + "stuttering, familial persistent, 3" "" + "cortisone reductase deficiency 2" "Decreased activity of the enzyme 11-beta-hydroxysteroid dehydrogenase type 1 due to inactivating mutation(s) in the HSD11B1 gene. The condition is characterized by hyperandrogenism as a result of increased adrenocorticotropic hormone stimulation of the adrenal gland due to failure of cortisol-mediated down-regulation, and is clinically indistinguishable from H6PD deficiency." "" + "intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency" "Any meconium ileus in which the cause of the disease is a mutation in the GUCY2C gene." "" + "stuttering, familial persistent, 4" "" + "auriculocondylar syndrome 2" "Any auriculocondylar syndrome in which the cause of the disease is a mutation in the PLCB4 gene." "" + "peripartum cardiomyopathy, susceptibility to" "" + "chromosome 16p11.2 duplication syndrome" "Proximal 16p11.2 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from a partial duplication of the short arm of chromosome 16 characterized by developmental delay and intellectual disability of a highly variable degree, autism spectrum, obsessive-compulsive, attention deficit hyperactivity disorder, speech articulation abnormalities, muscular hypotonia, tremor, hyper- or hyporeflexia, seizures, microcephaly, neuroimaging abnormalities, decreased body mass index and schizophrenia or bipolar disorder later on in life." "" + "dilated cardiomyopathy 2B" "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the GATAD1 gene." "" + "microcephaly 8, primary, autosomal recessive" "Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CEP135 gene." "" + "obsolete periodic fever, menstrual cycle-dependent" "" "true" + "autosomal dominant aplasia and myelodysplasia" "" + "hypertrophic cardiomyopathy 21" "A hypertrophic cardiomyopathy associated that has material basis in region 7p12.1-q21 variation." "" + "pontocerebellar hypoplasia type 1B" "Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the EXOSC3 gene." "" + "primary ciliary dyskinesia 17" "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CCDC103 gene." "" + "influenza, severe, susceptibility to" "" + "hypertelorism and other facial dysmorphism, brachydactyly, genital abnormalities, intellectual disability, and recurrent inflammatory episodes" "" + "alar cleft, isolated" "" + "pontine tegmental cap dysplasia" "Pontine tegmental cap dysplasia (PTCD) is a non-progressive neurological disorder characterized by significant developmental delay, cranial nerve dysfunction, and malformation of the hindbrain.Individuals with PTCD may have a collection of medical and developmental problems including: hearing impairment, ataxia,language and speech disorders, feeding and swallowingdifficulties, heartmalformations and facial paralysis.The severity of themedical problems varies among patients. Some patients have a good long-term prognosiswith normal intelligence and partial speech. The cause of PTCD has not been identified. Treatment is focused on managing the underlying symptoms and may include interventions such as cochlear implantation." "" + "posterior fossa malformation" "" + "cataract 38" "Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the AGK gene." "" + "idiopathic membranous glomerulonephritis" "Idiopathic membranous glomerulonephritis (IMG) is a primary glomerular disease characterized by proteinuria, usually in the nephrotic range, with preserved renal function." "" + "obsolete amyotrophic lateral sclerosis type 17" "" "true" + "immunodeficiency, common variable, 7" "" + "combined immunodeficiency due to LRBA deficiency" "" + "Cornelia de Lange syndrome 4" "Any Cornelia de Lange syndrome in which the cause of the disease is a mutation in the RAD21 gene." "" + "mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency" "A rare mitochondrial oxidative phosphorylation disorder with complex I and IV deficiency characterized by lactic acidosis, hypotonia, hypertrophic cardiomyopathy and global developmental delay. Other clinical features include feeding difficulties, failure to thrive, seizures, optic atrophy and ataxia." "" + "neuronal ceroid lipofuscinosis 11" "Any neuronal ceroid lipofuscinosis in which the cause of the disease is a mutation in the GRN gene." "" + "brown-Vialetto-van Laere syndrome 2" "Any Brown-Vialetto-van Laere syndrome in which the cause of the disease is a mutation in the SLC52A2 gene." "" + "porokeratosis 7, multiple types" "" + "adenine phosphoribosyltransferase deficiency" "Adenine phosphoribosyltransferase (APRT) deficiency is a rare autosomal recessive (AR) disorder characterized by the formation and hyperexcretion of 2,8-dihydroxyadenine (2,8-DHA) in urine, causing urolithiasis and crystalline nephropathy." "" + "TMEM165-CDG" "TMEM165-CDG is a form of congenital disorders of N-linked glycosylation characterized by a psychomotor delay-dysmorphism (pectus carinatum, dorsolumbar kyphosis and severe sinistroconvex scoliosis, short distal phalanges, genua vara, pedes planovalgi syndrome) with postnatal growth deficiency and major spondylo-, epi-, and metaphyseal skeletal involvement. Additional features include facial dysmorphism (midface hypoplasia, internal strabism of the right eye, low-set ears, moderately high arched palate, small teeth), nephrotic syndrome, cardiac defects, and feeding problems. The disease is caused by mutations in the gene TMEM165 (4q12)." "" + "Seckel syndrome 6" "Any Seckel syndrome in which the cause of the disease is a mutation in the CEP63 gene." "" + "prostate cancer, hereditary, 2" "Any familial prostate cancer in which the cause of the disease is a mutation in the ELAC2 gene." "" + "IMAGe syndrome" "IMAGe syndrome is characterized by the association of intrauterine growth retardation, metaphyseal dysplasia (and short limbs), adrenal hypoplasia congenita, and genital anomalies. It has been described in less than 20 cases. The patients also present with dysmorphic features (frontal bossing, broad nasal bridge, low-set ears). In boys, genital anomalies include bilateral cryptorchidism, hypospadias, micropenis, and hypogonadotropic hypogonadism. This syndrome is likely to be transmitted as an autosomal recessive trait." "" + "glucocorticoid deficiency 4" "Any familial glucocorticoid deficiency in which the cause of the disease is a mutation in the NNT gene." "" + "3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome" "Any 3-methylglutaconic aciduria in which the cause of the disease is a mutation in the SERAC1 gene." "" + "basal cell carcinoma, susceptibility to, 7" "Any skin basal cell carcinoma in which the cause of the disease is a mutation in the TP53 gene." "" + "mitochondrial pyruvate carrier deficiency" "An autosomal recessive metabolic disorder characterized by delayed psychomotor development and lactic acidosis with a normal lactate/pyruvate ratio resulting from impaired mitochondrial pyruvate oxidation." "" + "pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1" "Any pulmonary fibrosis and/or bone marrow failure, Telomere-related in which the cause of the disease is a mutation in the TERT gene." "" + "pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2" "" + "facial paresis, hereditary congenital, 3" "Any congenital hereditary facial paralysis-variable hearing loss syndrome in which the cause of the disease is a mutation in the HOXB1 gene." "" + "congenital nephrotic syndrome - interstitial lung disease - epidermolysis bullosa syndrome" "Congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome is a life-threatening multiorgan disorder which develops in the first months of life, presenting with respiratory distress and proteinuria in the nephrotic range, and leading to severe interstitial lung disease and renal failure. Some patients additionally display cutaneous alterations, ranging from blistering and skin erosions to an epidermolysis bullosa-like phenotype, with toe nail dystrophy and sparse hair." "" + "hyperphosphatasia with intellectual disability syndrome 2" "Any hyperphosphatasia-intellectual disability syndrome in which the cause of the disease is a mutation in the PIGO gene." "" + "congenital myasthenic syndrome 13" "Any congenital myasthenic syndromes with glycosylation defect in which the cause of the disease is a mutation in the DPAGT1 gene." "" + "neuronopathy, distal hereditary motor, type 5B" "Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the REEP1 gene." "" + "neuronopathy, distal hereditary motor, type 5" "" + "neuronopathy, distal hereditary motor, type 5A" "" + "Malan overgrowth syndrome" "Malan overgrowth syndrome is a multiple congenital anomalies syndrome characterized by moderate postnatal overgrowth, macrocephaly, craniofacial dysmorphism (including high forehead and anterior hairline, downslanting palpebral fissures, prominent chin), developmental delay, and intellectual disability. Additional variable manifestations include unusual behavior, with or without autistic traits, as well as ocular (e.g. strabismus, nystagmus, optic disc pallor/hypoplasia), gastrointestinal (e.g. vomiting, chronic diarrhea, constipation), musculoskeletal (e.g. scoliosis and pectus excavatum), hand/foot (e.g. long, tapered fingers) and central nervous system (e.g. slightly enlarged ventricles) anomalies." "" + "nonprogressive cerebellar atxia with intellectual disability" "Non-progressive cerebellar ataxia with intellectual deficit is a rare subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1) characterized by the onset in infancy of cerebellar ataxia, neonatal hypotonia (in some), mild developmental delay and, in later life, intellectual disability. Less common features include dysarthria, dysmetria and dysmorphic facial features (long face, bulbous nose long philtrum, thick lower lip and pointed chin)." "" + "heterotaxy, visceral, 6, autosomal" "" + "tremor, hereditary essential, 4" "Any essential tremor in which the cause of the disease is a mutation in the FUS gene." "" + "short stature-optic atrophy-Pelger-HuC+t anomaly syndrome" "" + "congenital myopathy with internal nuclei and atypical cores" "Congenital myopathy with internal nuclei and atypical cores is a rare genetic skeletal muscle disease characterized by neonatal hypotonia, distal more than proximal muscle weakness, progressive exercise intolerance with prominent myalgias, and mild-to-moderate overall motor impairment with preserved ambulation. Face, extraocular, cardiac, and respiratory muscles are unaffected. Mild cognitive impairment is also noted in most patients." "" + "amyotrophic lateral sclerosis type 18" "Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the PFN1 gene." "" + "C3 glomerulonephritis" "Glomerulonephritis characterized by C3 accumulation with little or absent deposition of immunoglobulin, in the absence of ultrastructural electron-dense transformation seen in dense deposit disease." "" + "multiple sclerosis, susceptibility to, 5" "Any multiple sclerosis, susceptibility to in which the cause of the disease is a mutation in the TNFRSF1A gene." "" + "short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome" "" + "Adams-Oliver syndrome 3" "Any Adams-Oliver syndrome in which the cause of the disease is a mutation in the RBPJ gene." "" + "Joubert syndrome 18" "Any Joubert syndrome in which the cause of the disease is a mutation in the TCTN3 gene." "" + "Loeys-Dietz syndrome 4" "Any Loeys-Dietz syndrome in which the cause of the disease is a mutation in the TGFB2 gene." "" + "karyomegalic interstitial nephritis" "Any interstitial nephritis in which the cause of the disease is a mutation in the FAN1 gene." "" + "Weill-Marchesani syndrome 3" "Any Weill-Marchesani syndrome in which the cause of the disease is a mutation in the LTBP2 gene." "" + "alternating hemiplegia of childhood 2" "Any alternating hemiplegia of childhood in which the cause of the disease is a mutation in the ATP1A3 gene." "" + "spermatogenic failure 10" "Any azoospermia in which the cause of the disease is a mutation in the SEPT12 gene." "" + "aortic valve disease 2" "Any aortic valve disease in which the cause of the disease is a mutation in the SMAD6 gene." "" + "nystagmus 7, congenital, autosomal dominant" "" + "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8" "Any muscular dystrophy-dystroglycanopathy, type A in which the cause of the disease is a mutation in the POMGNT2 gene." "" + "congenital muscular dystrophy caused by variation in POMGNT2" "Any congenital muscular dystrophy in which the cause of the disease is a variation in the POMGNT2 gene." "" + "autosomal recessive spinocerebellar ataxia 13" "Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency is a rare, genetic, slowly progressive neurodegenerative disease resulting from MGLUR1 deficiency characterized by global developmental delay (beginning in infancy), mild to severe intellectual deficit with poor or absent speech, moderate to severe stance and gait ataxia, pyramidal signs (e.g. hyperreflexia) and mild dysdiadochokinesia, dysmetria, tremors, and/or dysarthria. Oculomotor signs, such as nystagmus, strabismus, ptosis and hypometric saccades, may also be associated. Brain imaging reveals progressive, generalized, moderate to severe cerebellar atrophy, inferior vermian hypoplasia, and/or constitutionally small brain." "" + "autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome" "Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome is a rare, genetic, slowly progressive neurodegenerative disease characterized by delayed psychomotor development beginning in infancy, mild to profound intellectual disability, gait and stance ataxia, pyramidal signs (hyperreflexia, extensor plantar responses), dysarthria, and ocular abnormalities (e.g. nystagmus, oculomotor apraxia, abduction deficits, esotropia, ptosis). Brain imaging reveals progressive, generalized cerebellar atrophy, mild ventriculomegaly and, in some, retrocerebellar cysts." "" + "amelogenesis imperfecta hypomaturation type 2A4" "Any amelogenesis imperfecta in which the cause of the disease is a mutation in the ODAPH gene." "" + "bilateral generalized polymicrogyria" "Bilateral generalized polymicrogyria is a rare neurological disorder that affects the cerebral cortex (the outer surface of the brain). This is the most widespread form of polymicrogyria and typically affects the entire surface of the brain. Signs and symptoms include severe intellectual disability, problems with movement, and seizures that are difficult or impossible to treat. While the exact cause of bilateral generalized polymicrogyria is not fully understood, it is thought to be due to improper brain development during embryonic growth. Most cases appear to follow an autosomal recessive pattern of inheritance. Treatment is based on the signs and symptoms present in each person." "" + "microcephalic primordial dwarfism due to RTTN deficiency" "Microcephalic primordial dwarfism due to RTTN deficiency is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by primary microcephaly, profound short stature, moderate to severe intellectual disability, global developmental delay, craniofacial dysmorphism (e.g. sloping forehead, high and broad nasal bridge) and variable brain malformations, including simplified gyration, pachygyria, polymicrogyria, reduced sulcation, dysgenesis of corpus callosum and deformed ventricles. Renal anomalies, bilateral hearing loss, multiple joint contractures, severe failure to thrive and a sacral lesion cephalad to the gluteal crease have also been reported." "" + "thyrotoxic periodic paralysis, susceptibility to, 3" "" + "human herpesvirus 8, susceptibility to" "" + "hypogonadotropic hypogonadism 8 with or without anosmia" "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the KISS1R gene." "" + "hypogonadotropic hypogonadism 9 with or without anosmia" "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the NSMF gene." "" + "hypogonadotropic hypogonadism 10 with or without anosmia" "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the TAC3 gene." "" + "hypogonadotropic hypogonadism 11 with or without anosmia" "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the TACR3 gene." "" + "hypogonadotropic hypogonadism 12 with or without anosmia" "A hypogonadotropic hypogonadism that has material basis in homozygous mutation in the GNRH1 gene on chromosome 8p21." "" + "hypogonadotropic hypogonadism 13 with or without anosmia" "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the KISS1 gene." "" + "nephronophthisis 14" "Any nephronophthisis in which the cause of the disease is a mutation in the ZNF423 gene." "" + "nephronophthisis 15" "Any nephronophthisis in which the cause of the disease is a mutation in the CEP164 gene." "" + "distal tetrasomy 15q" "" + "15q overgrowth syndrome" "15q overgrowth syndrome is a rare partial autosomal trisomy/tetrasomy characterized by facial dysmorphism (long thin face, prominent forehead, down-slanting palpebral fissures, prominent nose with broad nasal bridge, prominent chin), pre- and postnatal overgrowth, renal anomalies (e.g. horseshoe kidney, renal agenesis, hydronephrosis), mild to severe learning difficulties and behavioral abnormalities. Additional features may include craniosynostosis and macrocephaly." "" + "epilepsy, idiopathic generalized, susceptibility to, 12" "" + "herpes simplex encephalitis, susceptibility to, 3" "Any herpes simplex encephalitis in which the cause of the disease is a mutation in the TRAF3 gene." "" + "herpes simplex encephalitis, susceptibility to, 4" "Any herpes simplex encephalitis in which the cause of the disease is a mutation in the TICAM1 gene." "" + "Seckel syndrome 7" "Microcephalic primordial dwarfism, Dauber type is a rare, genetic developmental defect during embryogenesis characterized by severe pre- and postnatal growth retardation, severe microcephaly, severe developmental delay and intelletual disability, severe adult short stature and facial dysmorphism (incl. hypotelorism, small ears, prominent nose). Other reported features include skeletal anomalies (Madelung deformity, clinodactyly, mild lumbar scoliosis, bilateral hip dysplasia) and seizures. Absence of thelarche and menarche is also associated." "" + "microcephaly 9, primary, autosomal recessive" "Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CEP152 gene." "" + "osteogenesis imperfecta type 13" "Any osteogenesis imperfecta in which the cause of the disease is a mutation in the BMP1 gene." "" + "methylmalonic acidemia with homocystinuria, type cblJ" "" + "peroxisome biogenesis disorder 3A (Zellweger)" "" + "dystonia 23" "Any dystonic disorder in which the cause of the disease is a mutation in the CACNA1B gene." "" + "autosomal recessive nonsyndromic hearing loss 98" "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the TSPEAR gene." "" + "peroxisome biogenesis disorder 4A (Zellweger)" "" + "peroxisome biogenesis disorder due to PEX6 defect" "Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX6 gene." "" + "peroxisome biogenesis disorder 4B" "" + "peroxisome biogenesis disorder 5A (Zellweger)" "" + "peroxisome biogenesis disorder due to PEX2 defect" "Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX2 gene." "" + "peroxisome biogenesis disorder 5B" "" + "combined immunodeficiency due to STK4 deficiency" "Combined immunodeficiency due to STK4 deficiency is a rare, genetic combined T and B cell immunodeficiency characterized by T- and B-cell lymphopenia, hypergammaglobulinemia and intermittent neutropenia. It presents with recurrent opportunistic viral, bacterial and fungal infections involving skin (cutaneous papillomatosis, molluscum contagiosum, skin abscesses, mucocutaneous candidiasis), upper and lower respiratory tract or septicemia. Other clinical features include autoimmune manifestations (autoimmune hemolytic anemia) and congenital heart defects (atrial septal defects, patent foramen ovale, mitral, triscupid and pulmonary valve insufficiency)." "" + "Usher syndrome type 1J" "Any Usher syndrome in which the cause of the disease is a mutation in the CIB2 gene." "" + "peroxisome biogenesis disorder 6A (Zellweger)" "" + "peroxisome biogenesis disorder due to PEX10 defect" "Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX10 gene." "" + "peroxisome biogenesis disorder 6B" "" + "peroxisome biogenesis disorder 7A (Zellweger)" "" + "peroxisome biogenesis disorder due to PEX26 defect" "Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX26 gene." "" + "peroxisome biogenesis disorder 7B" "" + "primary ciliary dyskinesia 18" "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAAF5 gene." "" + "metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria" "Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria is an extremely rare genetic disorder characterized by the unique association of enchondromatosis with D-2 hydroxyglutaric aciduria. Clinical features include enchondromatosis (with short stature, severe metaphyseal dysplasia and mild vertebral involvement), elevated levels of urinary 2-hydroxyglutaric acid and mild developmental delay." "" + "peroxisome biogenesis disorder 8A (Zellweger)" "" + "peroxisome biogenesis disorder due to PEX16 defect" "Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX16 gene." "" + "peroxisome biogenesis disorder 8B" "" + "autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation" "" + "peroxisome biogenesis disorder 9B" "" + "Zellweger spectrum disorders" "The most severe variant seen in the peroxisome biogenesis disorders that is characterized by neuronal migration defects in the brain, dysmorphic craniofacial features, profound hypotonia, neonatal seizures, and liver dysfunction." "" + "hypogonadotropic hypogonadism 15 with or without anosmia" "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the HS6ST1 gene." "" + "young adult-onset distal hereditary motor neuropathy" "Young adult-onset distal hereditary motor neuropathy is a rare autosomal recessive distal hereditary motor neuropathy characterized by slowly progressive muscular weakness, hypotonia and atrophy of the lower limbs, more pronounced distally, leading to paralysis, and loss of tendon reflexes. Additional features may include pes cavus and mild dysphonia. The upper limbs are relatively spared." "" + "peroxisome biogenesis disorder 10A (Zellweger)" "" + "peroxisome biogenesis disorder due to PEX3 defect" "Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX3 gene." "" + "peroxisome biogenesis disorder 11A (Zellweger)" "" + "peroxisome biogenesis disorder due to PEX13 defect" "Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX13 gene." "" + "peroxisome biogenesis disorder 11B" "" + "peroxisome biogenesis disorder 12A (Zellweger)" "" + "peroxisome biogenesis disorder due to PEX19 defect" "Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX19 gene." "" + "peroxisome biogenesis disorder 13A (Zellweger)" "" + "peroxisome biogenesis disorder due to PEX14 defect" "Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX14 gene." "" + "immunodeficiency 28" "Any primary immunodeficiency disease in which the cause of the disease is a mutation in the IFNGR2 gene." "" + "mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency" "Any autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency in which the cause of the disease is a mutation in the IL12B gene." "" + "autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency" "Autosomal recessive (AR) mendelian susceptibility to mycobacterial diseases (MSMD) due to a complete deficiency describes a group of genetic variants of MSMD comprised of MSMD due to complete interferon gamma receptor 1 (IFN-gammaR1) deficiency, complete IFN-gammaR2 deficiency, complete interleukin-12 subunit beta (IL12B) deficiency, complete interleukin-12 receptor subunit beta-1 (IL-12RB1) deficiency and complete ISG15 deficiency." "True" + "mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency" "Any autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency in which the cause of the disease is a mutation in the IL12RB1 gene." "" + "mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency" "A genetic variant of Mendelian susceptibility to mycobacterial diseases characterized by a partial defect in the interferon (IFN)-gamma pathway, leading to mild mycobacterial infections." "" + "mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency" "A rare genetic variant of Mendelian susceptibility to mycobacterial diseases characterized by a selective susceptibility to relatively mild infections with bacillus Calmette-Guerin (BCG)." "" + "obsolete monocyte and dendritic cell deficiency, autosomal recessive" "" "true" + "Charcot-Marie-Tooth disease type 4F" "Charcot-Marie-Tooth disease type 4F (CMT4F) is a severe, demyelinating subtype of Charcot-Marie-Tooth disease type 4 characterized by the childhood onset of a slowly-progressing typical CMT phenotype (i.e. distal muscle weakness and atrophy, as well as pes cavus) that presents severe sensory loss (frequently with sensory ataxia), moderately to severely reduced motor nerve conduction velocities and almost invariable absence of sensory nerve action potentials, and delayed motor milestones." "" + "sinoatrial node dysfunction and deafness" "Sinoatrial node dysfunction and deafness is a rare genetic disease characterized by congenital severe to profound deafness with no evidence of vestibular dysfunction, associated with sinoatrial node dysfunction with pronounced bradycardia and increased variability of heart rate at rest and episodic syncopes that may be triggered by enhanced physical activity and stress." "" + "hypogonadotropic hypogonadism 16 with or without anosmia" "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the SEMA3A gene." "" + "hereditary spastic paraplegia 53" "A very rare, complex type of hereditary spastic paraplegia characterized by early-onset spastic paraplegia (with spasticity in the lower extremities that progresses to the upper extremities) associated with developmental and motor delay, mild to moderate cognitive and speech delay, skeletal dysmorphism (e.g. kyphosis and pectus), hypertrichosis and mildly impaired vibration sense. SPG53 is due to mutations in the VPS37A gene (8p22) encoding vacuolar protein sorting-associated protein 37A." "" + "autosomal recessive nonsyndromic hearing loss 93" "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the CABP2 gene." "" + "Diamond-Blackfan anemia 11" "Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPL26 gene." "" + "lethal congenital contracture syndrome 4" "Any lethal congenital contracture syndrome in which the cause of the disease is a mutation in the MYBPC1 gene." "" + "catecholaminergic polymorphic ventricular tachycardia 4" "Any catecholaminergic polymorphic ventricular tachycardia in which the cause of the disease is a mutation in the CALM1 gene." "" + "peroxisome biogenesis disorder 14B" "" + "peroxisome biogenesis disorder due to PEX11B defect" "Any peroxisome biogenesis disorder in which the cause of the disease is a mutation in the PEX11B gene." "" + "PGM1-CDG" "" + "combined oxidative phosphorylation defect type 11" "Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the RMND1 gene." "" + "branched-chain keto acid dehydrogenase kinase deficiency" "Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency is a rare disorder of branched-chain amino acid metabolism characterized by childhood-onset epilepsy, autism and intellectual disability with reduced levels of plasma branched chain aminoacids." "" + "leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome" "Leukoencephalopathy-thalamus and brainstem anomalies-high lactate (LTBL) syndrome is a rare, genetic neurological disorder defined by early-onset of neurologic symptoms, biphasic clinical course, unique MRI features (incl. extensive, symmetrical, deep white matter abnormalities), and increased lactate in body fluids. The severe form is characterized by delayed psychomotor development, seizures, early-onset hypotonia, and persistently increased lactate levels. The mild form usually presents with irritability, psychomotor regression after six months of age, and temporary high lactate levels, with overall clinical improvement from the second year onward." "" + "Perrault syndrome 2" "Any Perrault syndrome in which the cause of the disease is a mutation in the HARS2 gene." "" + "ectodermal dysplasia 5, hair/nail type" "" + "ectodermal dysplasia 6, hair/nail type" "" + "ectodermal dysplasia 7, hair/nail type" "Any pure hair and nail ectodermal dysplasia in which the cause of the disease is a mutation in the KRT74 gene." "" + "ectodermal dysplasia 9, hair/nail type" "Any pure hair and nail ectodermal dysplasia in which the cause of the disease is a mutation in the HOXC13 gene." "" + "combined oxidative phosphorylation defect type 13" "Combined oxidative phosphorylation defect type 13 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by normal early development followed by the sudden onset in infancy of poor feeding, dysphagia, truncal (followed by global) hypotonia, motor regression, abnormal movements (i.e. severe dystonia of limbs, choreoathetosis, facial dyskinesias) and reduced tendon reflexes. The disease course is severe but nonprogressive." "" + "autosomal recessive nonsyndromic hearing loss 70" "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the PNPT1 gene." "" + "primary ciliary dyskinesia 19" "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the LRRC6 gene." "" + "palmoplantar keratoderma, punctate type ib" "" + "myoclonus, familial" "A rare, genetic movement disorder characterized by autosomal dominant, adult-onset, slowly progressive, multifocal, cortical myoclonus. Patients present somatosensory-evoked, brief, jerky, involuntary movements in the face, arms and legs, associated in most of cases with sustained, multiple, sudden falls without loss of consciousness. Seizures or other neurological deficits, aside from mild cerebellar ataxia late in the course of the illness, are absent." "" + "ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant" "" + "ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive" "" + "autosomal recessive nonsyndromic hearing loss 84B" "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the OTOGL gene." "" + "autosomal recessive nonsyndromic hearing loss 18B" "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the OTOG gene." "" + "combined oxidative phosphorylation defect type 14" "Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the FARS2 gene." "" + "combined oxidative phosphorylation defect type 15" "Combined oxidative phosphorylation defect type 15 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by onset in infancy or early childhood of muscular hypotonia, gait ataxia, mild bilateral pyramidal tract signs, developmental delay (affecting mostly speech and coordination) and subsequent intellectual disability. Short stature, obesity, microcephaly, strabismus, nystagmus, reduced visual acuity, lactic acidosis, and a brain neuropathology consistent with Leigh syndrome are also reported." "" + "congenital heart defects, multiple types, 3" "" + "developmental and epileptic encephalopathy, 14" "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the KCNT1 gene." "" + "pontocerebellar hypoplasia type 8" "A novel very rare form of pontocerebellar hypoplasia (see this term) characterized clinically by progressive microencephaly, feeding difficulties, severe developmental delay, although walking may be achieved, hypotonia often associated with increased muscle tone of lower extremities and deep tendon reflexes, joint deformities in the lower extremities, and occasionally complex seizures. PCH8 is caused by a loss-of-function mutation in the CHMP1A gene. MRI demonstrates a pontocerebellar hypoplasia with vermis and hemispheres equally affected and mild to severely reduced cerebral white matter volume with a fully formed very thin corpus callosum." "" + "obesity due to congenital leptin deficiency" "Congenital leptin deficiency is a form of monogenic obesity characterised by severe early-onset obesity and marked hyperphagia." "" + "obesity due to leptin receptor gene deficiency" "" + "pontocerebellar hypoplasia type 7" "Pontocerebellar hypoplasia type 7 (PCH7) is a novel very rare form of pontocerebellar hypoplasia with unknown etiology and poor prognosis reported in four patients and is characterized clinically during the neonatal period by hypotonia, no palpable gonads, micropenis and from infancy by progressive microcephaly, apneic episodes, poor feeding, seizures and regression of penis. MRI demonstrates a pontocerebellar hypoplasia. PCH7 is expressed as PCH with 46,XY disorder of sex development in individuals with XY karyotype, and may be expressed as PCH only in individuals with XX karyotype." "" + "Joubert syndrome 20" "Any Joubert syndrome in which the cause of the disease is a mutation in the TMEM231 gene." "" + "cholestasis, intrahepatic, of pregnancy, 3" "" + "focal facial dermal dysplasia type II" "Focal facial dermal dysplasia type II (FFDD2) is a focal facial dermal dysplasia (FFDD), characterized by congenital bitemporal scar-like depressions and other facial and organ abnormalities." "" + "focal facial dermal dysplasia type IV" "Focal facial dermal dysplasia type IV (FFDD4) is a rare focal facial dysplasia (FFDD), characterized by congenital isolated preauricular and/or cheek blister scar-like lesions." "" + "MEGF8-related Carpenter syndrome" "Any Carpenter syndrome in which the cause of the disease is a mutation in the MEGF8 gene." "" + "optic nerve edema-splenomegaly syndrome" "Optic nerve edema-splenomegaly syndrome is a rare presumably genetic disorder characterized by idiopathic massive splenomegaly with pancytopenia and childhood-onset chronic optic nerve edema with slowly progressive vision loss. Additional reported features include anhidrosis, urticaria and headaches." "" + "congenital heart defects, multiple types, 2" "Any congenital heart malformation in which the cause of the disease is a mutation in the TAB2 gene." "" + "Usher syndrome type 1K" "An Usher syndrome type 1 that has material basis in variation in the chromosome region 10p11.21-q21.1." "" + "autosomal dominant nocturnal frontal lobe epilepsy 5" "Any autosomal dominant nocturnal frontal lobe epilepsy in which the cause of the disease is a mutation in the KCNT1 gene." "" + "developmental and epileptic encephalopathy, 15" "" + "basal ganglia calcification, idiopathic, 4" "" + "immunoglobulin-mediated membranoproliferative glomerulonephritis" "Glomerulonephritis characterized by mesangial proliferation, endocapillary proliferation, and glomerular capillary wall remodeling with immune complex deposits from classical complement pathway activation." "" + "Schuurs-Hoeijmakers syndrome" "Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome is a rare, genetic, syndromic intellectual disability syndrome characterized by mild to moderate intellectual disability, developmental delay (with speech and language development more severely affected) and facial dysmorphism which typically includes full, arched eyebrows, hypertelorism, down-slanting palpebral fissures, long eyelashes, ptosis, low-set, simple ears, bulbous nasal tip, flat philtrum, wide mouth with downturned corners and thin upper lip and diastema of the teeth. Association with infantile hypotonia, seizures, cryptorchidism in males and congenital abnormalities, including cardiac, cerebral or occular defects, may be observed." "" + "Aicardi-Goutieres syndrome 6" "Any Aicardi-Goutieres syndrome in which the cause of the disease is a mutation in the ADAR gene." "" + "phosphohydroxylysinuria" "" + "autosomal recessive congenital ichthyosis 7" "An autosomal recessive congenital ichthyosis characterized by fine whitish scales, moderate to severe erythroderma, compact hyperkeratosis, hypergranulosis, acanthosis, and papillomatosis that has material basis in variation in the chromosome region 12p11.2-q13.1." "" + "autosomal recessive congenital ichthyosis 9" "Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the CERS3 gene." "" + "autosomal recessive congenital ichthyosis 10" "Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the PNPLA1 gene." "" + "Charcot-Marie-Tooth disease axonal type 2Q" "Autosomal dominant Charcot-Marie-Tooth disease type 2Q is a rare subtype of autosomal dominant Charcot-Marie-Tooth disease type 2 characterized by adolescent to adulthood-onset of symmetrical, slowly progressive distal muscle weakness and atrophy (with a predominant weakness of the distal lower limbs) associated with reduced or absent deep tendon reflexes, pes cavus and mild to moderated deep sensory impairment." "" + "maternal riboflavin deficiency" "" + "epidermolysis bullosa simplex due to exophilin 5 deficiency" "" + "hereditary spastic paraplegia 56" "Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the CYP2U1 gene." "" + "hereditary spastic paraplegia 49" "Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the TECPR2 gene." "" + "autism, susceptibility to, 18" "" + "hereditary spastic paraplegia 54" "A rare, complex form of hereditary spastic paraplegia characterized by the onset in early childhood of progressive spastic paraplegia associated with cerebellar signs, short stature, delayed psychomotor development, intellectual disability and, less commonly, foot contractures, dysarthria, dysphagia, strabismus and optic hypoplasia. SPG54 is caused by mutations in the DDHD2 gene (8p11.23) encoding phospholipase DDHD2." "" + "dystonia 24" "Any dystonic disorder in which the cause of the disease is a mutation in the ANO3 gene." "" + "hereditary spastic paraplegia 55" "" + "familial episodic pain syndrome with predominantly upper body involvement" "" + "familial episodic pain syndrome" "" + "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10" "Any muscular dystrophy-dystroglycanopathy, type A in which the cause of the disease is a mutation in the RXYLT1 gene." "" + "congenital muscular dystrophy with intellectual disability and severe epilepsy" "" + "hereditary spastic paraplegia 43" "Autosomal recessive spastic paraplegia type 43 is a rare, complex hereditary spastic paraplegia characterized by a childhood to adolescent onset of progressive lower limb spasticity, associated with mild to severe gait disturbances, extensor plantar responses, muscle weakness and severe distal atrophy, frequently with upper limb involvement. Additional features may include joint contractures, distal sensory loss and brisk or absent deep tendon reflexes. Other signs, such as depression, memory loss, optic atrophy (with vision loss) and brain iron deposition (revealed by brain imagery), have also been reported." "" + "lower motor neuron syndrome with late-adult onset" "" + "congenital stationary night blindness 1F" "Any congenital stationary night blindness in which the cause of the disease is a mutation in the LRIT3 gene." "" + "hypotrichosis 11" "Any hypotrichosis in which the cause of the disease is a mutation in the SNRPE gene." "" + "distal arthrogryposis type 5D" "Distal arthrogryposis type 5D is a rare subtype of distal arthrogryposis syndrome characterized by arthrogryposis multiplex congenita affecting the hands, feet, ankle, shoulders and/or neck, with camptodactyly of the fingers and limited knee and hip extension, associated with asymmetric ptosis and, less frequently, other ocular manifestations (e.g. ophthalmoplegia, strabismus). Affected individuals frequently have a bulbous nose, furrowed tongue, micro/retrognathia, a short neck, congenital hip dislocation, club feet, scoliosis and short stature." "" + "osteogenesis imperfecta type 14" "Any osteogenesis imperfecta in which the cause of the disease is a mutation in the TMEM38B gene." "" + "primary ciliary dyskinesia 20" "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CCDC114 gene." "" + "microcephalic primordial dwarfism, Alazami type" "Microcephalic primordial dwarfism, Alazami type is a rare, genetic developmental defect during embryogenesis syndrome characterized by severe intellectual disability, distinct dysmorphic facial features (i.e. triangular face with prominent forehead, narrow palpebral fissures, deep-set eyes, low-set ears, broad nose, malar hypoplasia, short philtrum, macrostomia, widely spaced teeth) and pre and postnatal proportionate short stature, ranging from primordial dwarfism (height below -3.5 SD) to a milder phenotype with less severe growth restriction (height below -2.5 SD). Other reported features include skeletal findings (e.g. scoliosis), microcephaly, involuntary hand movements, hypersensitivity to stimuli and behavioral problems, such as anxiety." "" + "brachydactyly type A1C" "Any brachydactyly type A1 in which the cause of the disease is a mutation in the GDF5 gene." "" + "dystonia 25" "Autosomal dominant focal dystonia, DTY25 is a form of focal dystonia, characterized by cervical, laryngeal and hand-forearm dystonia." "" + "severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome" "An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of GATAD2B on chromosome 1q21.3." "" + "severe intellectual disability-progressive spastic diplegia syndrome" "Severe intellectual disability-progressive spastic diplegia syndrome is a rare condition that has been described in a few people with severe intellectual disability. Other signs and symptoms include progressive microcephaly (very small head); ataxia (lack of coordination); spasticity ; and/or skin, hair and mild facial anomalies. It is caused by changes (mutations) in the CTNNB1 gene and it is inherited in an autosomal dominant fashion. Treatment is based on the signs and symptoms present in each person." "" + "Alzheimer disease 17" "An Alzheimer's disease that is characterized by an associated with mutations in the gene TREM2." "" + "spermatogenic failure 11" "Any azoospermia in which the cause of the disease is a mutation in the KLHL10 gene." "" + "colorectal cancer, susceptibility to, 12" "Any colorectal cancer in which the cause of the disease is a mutation in the POLE gene." "" + "mitochondrial DNA depletion syndrome 11" "Progressive external ophthalmoplegia-myopathy-emaciation syndrome is a rare mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies characterized by progressive external ophthalmoplegia without diplopia, cerebellar atrophy, proximal skeletal muscle weakness with generalized muscle wasting, profound emaciation, respiratory failure, spinal deformity and facial muscle weakness (manifesting with ptosis, dysphonia, dysphagia and nasal speech). Intellectual disability, gastrointestinal symptoms (e.g. nausea, abdominal fullness, and loss of appetite), dilated cardiomyopathy and renal colic have also been reported." "" + "autosomal recessive osteopetrosis 8" "Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the SNX10 gene." "" + "autism, susceptibility to, 19" "" + "left ventricular noncompaction 7" "Any left ventricular noncompaction in which the cause of the disease is a mutation in the MIB1 gene." "" + "microcephalic primordial dwarfism due to ZNF335 deficiency" "Microcephalic primordial dwarfism due to ZNF335 deficiency is characterized by severe antenatal microencephaly, simplified gyration, agenesis of the corpus callosum, absence of basal ganglia (very rare), pontocerebellar atrophy and involvement of the white matter with secondary cerebral atrophy. Congenital cataract, choanal atresia, multiple arthrogryposis and spastic tetraparesis can occur." "" + "dysmorphism-conductive hearing loss-heart defect syndrome" "A syndrome characterized by distinctive facial features, cleft palate, conductive hearing loss, and mild developmental delay. The craniofacial dysmorphism included low frontal hairline, ptosis, prominent eyes, flat midface, Cupid's bow configuration of the upper lip, and low-set, posteriorly rotated small ears." "" + "Cowden syndrome 3" "Any Cowden disease in which the cause of the disease is a mutation in the SDHD gene." "" + "Cowden syndrome 4" "Any Cowden disease in which the cause of the disease is a mutation in the KLLN gene." "" + "Cowden syndrome 5" "Any Cowden disease in which the cause of the disease is a mutation in the PIK3CA gene." "" + "Cowden syndrome 6" "Any Cowden disease in which the cause of the disease is a mutation in the AKT1 gene." "" + "urofacial syndrome 2" "Any Ochoa syndrome in which the cause of the disease is a mutation in the LRIG2 gene." "" + "isolated microphthalmia 8" "Any isolated microphthalmia in which the cause of the disease is a mutation in the ALDH1A3 gene." "" + "cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2" "Any fatal infantile encephalocardiomyopathy in which the cause of the disease is a mutation in the COX15 gene." "" + "congenital myasthenic syndrome 8" "Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the AGRN gene." "" + "stomatin-like protein-2, hyperphosphorylation of" "True" + "lymphoproliferative syndrome 2" "Any lymphoproliferative syndrome in which the cause of the disease is a mutation in the CD27 gene." "" + "epilepsy, familial adult myoclonic, 4" "" + "melanoma, cutaneous malignant, susceptibility to, 9" "" + "maple syrup urine disease, mild variant" "" + "intermediate maple syrup urine disease" "Intermediate maple syrup urine disease (intermediate MSUD) is a milder form of MSUD characterized by persistently raised branched-chain amino acids (BCAAs) and ketoacids, but fewer or no acute episodes of decompensation." "" + "facial dysmorphism-immunodeficiency-livedo-short stature syndrome" "A rare genetic disease characterized by facial dysmorphism with malar hypoplasia and high forehead, immunodeficiency resulting in recurrent infections, impaired growth (with normal growth hormone production and response) resulting in short stature, and livedo affecting face and extremities. Immunological analyses show low memory B-cell and naïve T cell counts, decreased T cell proliferation, and reduced IgM, IgG2 and IgG4 titers. Patients do not exhibit increased susceptibility to cancer." "" + "microphthalmia, isolated, with coloboma 9" "Any microphthalmia, isolated, with coloboma in which the cause of the disease is a mutation in the TENM3 gene." "" + "progressive retinal dystrophy due to retinol transport defect" "" + "Steel syndrome" "A rare genetic bone disease characterized by short stature, bilateral congenital hip dislocation, radial head dislocation, carpal coalition, scoliosis, pes cavus, and atlantoaxial subluxation. Dysmorphic facial features include broad forehead, broad nasal bridge, hypertelorism, and mild midface hypoplasia. Association with bilateral sensorineural hearing loss has also been described." "" + "mitochondrial DNA deletion syndrome with progressive myopathy" "" + "mitochondrial complex III deficiency nuclear type 2" "Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the TTC19 gene." "" + "mitochondrial complex III deficiency nuclear type 3" "Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the UQCRB gene." "" + "mitochondrial complex III deficiency nuclear type 4" "Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the UQCRQ gene." "" + "mitochondrial complex III deficiency nuclear type 5" "Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the UQCRC2 gene." "" + "short ulna-dysmorphism-hypotonia-intellectual disability syndrome" "" + "cone-rod dystrophy 17" "A cone-rod dystrophy that has material basis in variation in the chromosome region 10q26." "" + "syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome" "" + "oculocutaneous albinism type 7" "Oculocutaneous albinism type 7 (OCA7), formerly called OCA5, is a form of oculocutaneous albinism (OCA) characterized by skin and hair hypopigmentation, nystagmus and iris transillumination." "" + "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11" "Any muscular dystrophy-dystroglycanopathy, type A in which the cause of the disease is a mutation in the B3GALNT2 gene." "" + "D,L-2-hydroxyglutaric aciduria" "D,L-2-hydroxyglutaric aciduria is a rare inborn error of metabolism characterized by severe neonatal epileptic encephalopathy, episodes of apnea and respiratory distress, severe global developmental delay or absent psychomotor development, severe muscular hypotonia or absent voluntary movements, feeding difficulties and failure to thrive, absence of visual contact, abnormal brain morphology (including cerebral atrophy, ventriculomegaly and hypoplasia or dysplasia of the corpus callosum), mild dysmorphic features (frontal bossing, hypertelorism, downslanting palpebral fissures, flat nasal bridge), elevated CSF and plasma lactate and urinary Krebs cycle metabolites." "" + "dilated cardiomyopathy 1II" "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the CRYAB gene." "" + "Charcot-Marie-Tooth disease dominant intermediate F" "Autosomal dominant intermediate Charcot-Marie-Tooth disease type F is a rare hereditary motor and sensory neuropathy disorder characterized by the typical CMT phenotype (slowly progressive distal muscle atrophy and weakness in upper and lower limbs, distal sensory loss in extremities, reduced or absent deep tendon reflexes and foot deformities) with nerve biopsy demonstrating demyelinating and axonal changes and nerve conduction velocities varying from the demyelinating to axonal range." "" + "cataract 39 multiple types" "Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CRYGB gene." "" + "dyskeratosis congenita, autosomal recessive 5" "A dyskeratosis congenita that has material basis in an autosomal dominant mutation of RTEL1 on chromosome 20q13.33." "" + "cobblestone lissencephaly without muscular or ocular involvement" "Cobblestone lissencephaly without muscular or ocular involvement is a form of cobblestone lissencephaly characterized by a constellation of brain malformations which can either exist alone or in conjunction with minimal muscular and ocular abnormalities. The clinical features of the disease include severe developmental delay, increased head circumference, hydrocephalus and seizures." "" + "cobblestone lissencephaly" "Cobblestone lissencephaly is a rare central nervous system malformation which includes a group of diseases that are characterized by a bumpy (or pebbled) appearance of the cerebral cortex, associated with a thickened cortex, reduction in normal sulcation, ventriculomegaly and reduced, abnormal white matter, as well as brainstem and cerebellum hypoplasia and corpus callosum agenesis. Patients generally present variable degrees of developmental delay, hypotonia and ocular abnomalities, however muscular and ocular involvement may be absent." "" + "platelet-type bleeding disorder 15" "Any inherited bleeding disorder, platelet-type in which the cause of the disease is a mutation in the ACTN1 gene." "" + "restless legs syndrome, susceptibility to, 8" "" + "osteosclerotic metaphyseal dysplasia" "" + "severe combined immunodeficiency due to CARD11 deficiency" "Severe combined immunodeficiency due to CARD11 deficiency is a rare combined T and B cell immunodeficiency characterized by normal numbers of T and B lymphocytes, increased numbers of transitional B cells and hypo- to agammaglobulinemia, decreased numbers of regulatory T cells and defects in T-cell functions. It presents with severe susceptibility to infections, including opportunistic infections." "" + "T+ B+ severe combined immunodeficiency" "" + "cryptosporidiosis-chronic cholangitis-liver disease syndrome" "" + "agammaglobulinemia 7, autosomal recessive" "Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the PIK3R1 gene." "" + "ataxia with oculomotor apraxia type 3" "" + "spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2" "A rare autosomal recessive cerebellar ataxia (ARCA), characterized by progressive cerebellar ataxia associated with frequent oculomotor apraxia, severe neuropathy and an elevated serum alpha-fetoprotein (AFP) level." "" + "hydrocephalus, nonsyndromic, autosomal recessive 2" "Any congenital hydrocephalus in which the cause of the disease is a mutation in the MPDZ gene." "" + "osteogenesis imperfecta type 15" "Any osteogenesis imperfecta in which the cause of the disease is a mutation in the WNT1 gene." "" + "Smith-McCort dysplasia 2" "Any Smith-McCort dysplasia in which the cause of the disease is a mutation in the RAB33B gene." "" + "advanced sleep phase syndrome 2" "Any advanced sleep phase syndrome in which the cause of the disease is a mutation in the CSNK1D gene." "" + "corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome" "" + "polydactyly, postaxial, type A6" "" + "mitochondrial complex V (ATP synthase) deficiency nuclear type 4" "Any mitochondrial complex deficiency in which the cause of the disease is a mutation in the ATP5F1A gene." "" + "combined oxidative phosphorylation deficiency 22" "" + "schizophrenia 18" "A schizophrenia that has material basis in a mutation of SLC1A1 on chromosome 9p24.2." "" + "retinitis pigmentosa 66" "Any retinitis pigmentosa in which the cause of the disease is a mutation in the RBP3 gene." "" + "severe congenital hypochromic anemia with ringed sideroblasts" "STEAP3/TSAP6-related sideroblastic anemia is a very rare severe non-syndromic hypochromic anemia, which is characterized by transfusion-dependent hypochromic, poorly regenerative anemia, iron overload, resembling non-syndromic sideroblastic anemia except for increased erythrocyte protoporphyrin levels." "" + "dilated cardiomyopathy 1JJ" "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the LAMA4 gene." "" + "microcephaly-intellectual disability-phalangeal and neurological anomalies syndrome" "This syndrome is characterised by microcephaly, severe intellectual deficit, phalangeal anomalies (cutaneous syndactyly of the fingers, toe brachyclinodactyly and nail hypoplasia) and neurological manifestations (epilepsy, spastic/dystonic paraplegia and brisk reflexes)." "" + "CIDEC-related familial partial lipodystrophy" "" + "nephrotic syndrome, type 8" "Any nephrotic syndrome in which the cause of the disease is a mutation in the ARHGDIA gene." "" + "dilated cardiomyopathy 1KK" "Any dilated cardiomyopathy in which the cause of the disease is a mutation in the MYPN gene." "" + "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12" "Any muscular dystrophy-dystroglycanopathy, type A in which the cause of the disease is a mutation in the POMK gene." "" + "cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4" "Any dysequilibrium syndrome in which the cause of the disease is a mutation in the ATP8A2 gene." "" + "Fanconi anemia complementation group Q" "Any Fanconi anemia in which the cause of the disease is a mutation in the ERCC4 gene." "" + "NGLY1-deficiency" "A rare autosomal recessive inherited disorder caused by mutations in the NGLY1 gene. It is characterized by developmental delay, hypotonia, abnormal involuntary movements, poor tear production, microcephaly, intractable seizures, abnormal eye movements, and liver abnormalities." "" + "glycoprotein metabolism disease" "A disease that has its basis in the disruption of glycoprotein metabolic process." "" + "cataract 15 multiple types" "Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the MIP gene." "" + "cataract 19 multiple types" "Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the LIM2 gene." "" + "cardiofaciocutaneous syndrome 2" "Any cardiofaciocutaneous syndrome in which the cause of the disease is a mutation in the KRAS gene." "" + "cardiofaciocutaneous syndrome 3" "Any cardiofaciocutaneous syndrome in which the cause of the disease is a mutation in the MAP2K1 gene." "" + "cardiofaciocutaneous syndrome 4" "Any cardiofaciocutaneous syndrome in which the cause of the disease is a mutation in the MAP2K2 gene." "" + "hypomyelination with brain stem and spinal cord involvement and leg spasticity" "" + "complex cortical dysplasia with other brain malformations 2" "Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the KIF5C gene." "" + "Charcot-Marie-Tooth disease type 4B3" "Charcot-Marie-Tooth disease type 4B3 (CMT4B3) is a subtype of Charcot-Marie-Tooth type 4 characterized by a childhood onset of slowly progressing, demyelinating sensorimotor neuropathy, focally folded myelin sheaths in nerve biopsy, reduced nerve conduction velocities (less than 38 m/s), and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, and sensory loss)." "" + "congenital neutropenia-myelofibrosis-nephromegaly syndrome" "" + "intellectual disability-strabismus syndrome" "" + "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13" "" + "autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures" "" + "myofibromatosis, infantile, 2" "Any myofibromatosis in which the cause of the disease is a mutation in the NOTCH3 gene." "" + "primary ciliary dyskinesia 21" "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DRC1 gene." "" + "Adams-Oliver syndrome 4" "Any Adams-Oliver syndrome in which the cause of the disease is a mutation in the EOGT gene." "" + "symphalangism, proximal, 1B" "Any proximal symphalangism in which the cause of the disease is a mutation in the GDF5 gene." "" + "Perrault syndrome 4" "Any Perrault syndrome in which the cause of the disease is a mutation in the LARS2 gene." "" + "oculocutaneous albinism type 5" "Oculocutaneous albinism type 5 (OCA5) is a type of oculocutaneous albinism found in one Pakistani family to date, characterized by white skin, golden hair, photophobia, nystagmus, foveal hypoplasia and impaired visual acuity, that affects males and females equally, and that has been mapped to a locus on chromosome 4q24 but whose gene has not yet been discovered." "" + "TCF12-related craniosynostosis" "Any craniosynostosis in which the cause of the disease is a mutation in the TCF12 gene." "" + "autosomal recessive limb-girdle muscular dystrophy type 2R" "Autosomal recessive limb-girdle muscular dystrophy type 2R (LGMD2R) is a form of limb-girdle muscular dystrophy characterized by the adolescent or early adulthood-onset of progressive proximal muscle weakness and mild facial muscle weakness, with patients becoming wheelchair bound in their fourth to fifth decade of life. Mild, bilateral winged scapula, incomplete right bundle branch block, and a sinus rhythm with very rare ventricular extrasystoles have also been reported." "" + "Dowling-Degos disease 2" "Any Dowling-Degos disease in which the cause of the disease is a mutation in the POFUT1 gene." "" + "hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome" "" + "multiple mitochondrial dysfunctions syndrome 3" "Any fatal multiple mitochondrial dysfunctions syndrome in which the cause of the disease is a mutation in the IBA57 gene." "" + "developmental and epileptic encephalopathy, 16" "" + "pulmonary hypertension, primary, 2" "Any primary pulmonary hypertension in which the cause of the disease is a mutation in the SMAD9 gene." "" + "heritable pulmonary arterial hypertension" "Heritable pulmonary arterial hypertension (HPAH) is a form of pulmonary arterial hypertension (PAH), occurring due to mutations in PAH predisposing genes or in a familial context. HPAH is characterized by elevated pulmonary arterial resistance leading to right heart failure. HPAH is progressive and potentially fatal." "" + "pulmonary hypertension, primary, 3" "Any primary pulmonary hypertension in which the cause of the disease is a mutation in the CAV1 gene." "" + "pulmonary hypertension, primary, 4" "Any primary pulmonary hypertension in which the cause of the disease is a mutation in the KCNK3 gene." "" + "precocious puberty, central, 2" "Any central precocious puberty in which the cause of the disease is a mutation in the MKRN3 gene." "" + "nemaline myopathy 8" "An autosomal recessive myopathy caused by mutations in the KLHL40 gene, encoding Kelch-like protein 40. The phenotype is highly variable, and as such attempts at classification by clinical features is not optimal. Generally, affected individuals have generalized muscle weakness, and typically involves proximal muscles, the face, bulbar and respiratory muscles." "" + "Ehlers-Danlos syndrome, spondylodysplastic type, 2" "Any Ehlers-Danlos syndrome, spondylodysplastic type in which the cause of the disease is a mutation in the B3GALT6 gene." "" + "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14" "" + "myopathy caused by variation in GMPPB" "Any myopathy in which the cause of the disease is a variation in the GMPPB gene." "" + "muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14" "" + "autosomal recessive limb-girdle muscular dystrophy type 2T" "Autosomal recessive limb-girdle muscular dystrophy type 2T (LGMD2T) is a form of limb-girdle muscular dystrophy, that can present from birth to early childhood, characterized by hypotonia, microcephaly, mild proximal muscle weakness (leading to delayed walking and difficulty climbing stairs), mild intellectual disability and epilepsy. Additional manifestations reported in some patients include cataracts, nystagmus, cardiomyopathy, and respiratory insufficiency." "" + "Noonan syndrome 8" "Any Noonan syndrome in which the cause of the disease is a mutation in the RIT1 gene." "" + "autosomal recessive limb-girdle muscular dystrophy type 2S" "Autosomal recessive limb-girdle muscular dystrophy type 2S (LGMD2S) is a form of limb-girdle muscular dystrophy characterized by childhood-onset of progressive proximal muscle weakness (leading to reduced ambulation) with myalgia and fatigue, in addition to infantile hyperkinetic movements, truncal ataxia, and intellectual disability. Additional manifestations include scoliosis, hip dysplasia, and less commonly, ocular features (e.g. myopia, cataract) and seizures." "" + "intellectual disability-hyperkinetic movement-truncal ataxia syndrome" "" + "Leber congenital amaurosis 17" "Any Leber congenital amaurosis in which the cause of the disease is a mutation in the GDF6 gene." "" + "autosomal dominant hypocalcemia 2" "An autosomal dominant hypocalcemia disease that has material basis in heterozygous mutation in the GNA11 gene on chromosome 19p13." "" + "neuronal ceroid lipofuscinosis 13" "Any neuronal ceroid lipofuscinosis in which the cause of the disease is a mutation in the CTSF gene." "" + "estrogen resistance syndrome" "Estrogen resistance syndrome is a rare, genetic endocrine disease characterized by estrogen-receptor insensitivity to estrogens and the presence of elevated estrogen and gonadotropin serum levels. Clinical manifestations include absent breast development and primary amenorrhea in association with multicystic ovaries and/or hypoplastic uterus in female patients, normal or abnormal gonadal development in male patients and markedly delayed bone maturation, persistence of open epiphyses, reduced bone mineral density, and variable tall stature in both sexes. Glucose intolerance, hyperinsulinemia and lipid abnormalities may also be present." "" + "fetal akinesia-cerebral and retinal hemorrhage syndrome" "Fetal akinesia-cerebral and retinal hemorrhage syndrome is a rare, lethal, congenital myopathy syndrome characterized by decreased fetal movements and polyhydraminos in utero and the presence of akinesia, severe hypotonia with respiratory insufficiency, absent reflexes, joint contractures, skeletal abnormalities with thin ribs and bones, intracranial and retinal hemorrhages and decreased birth weight in the neonate." "" + "developmental and epileptic encephalopathy 94" "An idiopathic generalized epilepsy characterized by onset of multiple seizure types in the first few years of life and associated with poor prognosis. Affected individuals have cognitive regression and intellectual disability." "" + "myoclonic-astastic epilepsy" "Myoclonic Astatic Epilepsy (MAE) is a rare epilepsy syndrome of childhood characterized by the occurrence of multiple different seizure types including myoclonic-astatic, generalized tonic-clonic and absence seizures, usually in previously healthy children." "" + "Lennox-Gastaut syndrome" "Lennox-Gastaut syndrome (LGS) belongs to the group of severe childhood epileptic encephalopathies." "" + "pulmonary hypertension, neonatal, susceptibility to" "" + "left ventricular noncompaction 8" "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the PRDM16 gene." "" + "cone-rod dystrophy 18" "Any cone-rod dystrophy in which the cause of the disease is a mutation in the RAB28 gene." "" + "RAB28-related retinopathy" "A retinopathy caused by biallelic variants in the RAB28 gene." "" + "Charcot-Marie-Tooth disease recessive intermediate C" "Autosomal recessive intermediate Charcot-Marie-Tooth disease type C is a rare subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease characterized by childhood to adulthood-onset of progressive, moderate to severe, predominantly distal, mostly lower limb muscle weakness and atrophy, foot deformities (including pes cavus and hammer toes), absent deep tendon reflexes and distal sensory loss associated with decreased motor and sensory nerve conduction velocities and features of both demyelinating and axonal neuropathy on sural nerve biopsy." "" + "atrial fibrillation, familial, 13" "Any familial atrial fibrillation in which the cause of the disease is a mutation in the SCN1B gene." "" + "atrial fibrillation, familial, 14" "Any familial atrial fibrillation in which the cause of the disease is a mutation in the SCN2B gene." "" + "mandibular hypoplasia-deafness-progeroid syndrome" "" + "nephronophthisis 16" "Any nephronophthisis in which the cause of the disease is a mutation in the ANKS6 gene." "" + "autosomal recessive spinocerebellar ataxia 14" "Spectrin-associated autosomal recessive cerebellar ataxia is a rare, genetic neurological disease, due to SPTBN2 mutations, characterized by global development delay in infancy, followed by childhood-onset gait ataxia with limb dysmetria and dysdiadochokinesia, mild to severe intellectual disability, development of cerebellar atrophy, and abnormal eye movements (including a convergent squint, hypometric saccades, jerky pursuit movements and incomplete range of movement)." "" + "TCR-alpha-beta-positive T-cell deficiency" "A non-severe combined immunodeficiency disorder manifesting with recurrent respiratory infections, candidiasis, diarrhea, and failure to thrive. Patients show a clear predisposition to herpes viral infections, and features of immune dysregulation, including hypereosinophilia, vitiligo, and alopecia areata. Other features include lymphadenopathy and hepatosplenomegaly. CD3+ T-cells express TCR- gamma|delta, but little or no TCR-alpha|beta." "" + "vesicoureteral reflux 7" "" + "infantile hypertrophic cardiomyopathy due to MRPL44 deficiency" "Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency is a rare mitochondrial oxidative phosphorylation disorder with complex I and IV deficiency characterized by hypertrophic cardiomyopathy, hepatic steatosis with elevated liver transaminases, exercise intolerance and muscle weakness. Neuro-opthalmological features (hemiplegic migraine, Leigh-like lesions on brain MRI, pigmentary retinopathy) have been reported later in life." "" + "left ventricular noncompaction 10" "Any left ventricular noncompaction in which the cause of the disease is a mutation in the MYBPC3 gene." "" + "Meckel syndrome, type 11" "Any Meckel syndrome in which the cause of the disease is a mutation in the TMEM231 gene." "" + "multiple congenital anomalies-hypotonia-seizures syndrome 3" "Intellectual disability-seizures-hypotonia-ophthalmologic-skeletal anomalies syndrome is a rare congenital disorder of glycosylation characterized by neonatal hypotonia, global development delay, developmental regress and severe to profound intellectual disability, infantile onset seizures that are initially associated with febrile episodes with subsequent transition to unprovoked seizures, impaired vision with esotropia and nystagmus, progressive cerebral and cerebellar atrophy, skeletal abnormalities (including brachycephaly, scoliosis, slender long bones, delayed bone age, pectus excavatum and osteopenia), inverted nipples and dysmorphic features including high and narrow forehead, frontal bossing, short nose, depressed nasal bridge, anteverted nares, high palate and wide open mouth consistent with facial hypotonia. Other features may include cardiac abnormalities (such as patent ductus arteriosus, atrial septal defects), urogenital abnormalities (such as nephrocalcinosis, urolithiasis), and low plasma concentration of alkaline phosphatase." "" + "paroxysmal nocturnal hemoglobinuria 2" "Any paroxysmal nocturnal hemoglobinuria in which the cause of the disease is a mutation in the PIGT gene." "" + "epilepsy, familial adult myoclonic, 5" "Any epilepsy, familial adult myoclonic in which the cause of the disease is a mutation in the CNTN2 gene." "" + "severe combined immunodeficiency due to CORO1A deficiency" "" + "dyschromatosis universalis hereditaria 3" "Any dyschromatosis universalis hereditaria in which the cause of the disease is a mutation in the ABCB6 gene." "" + "complex cortical dysplasia with other brain malformations 3" "Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the KIF2A gene." "" + "complex cortical dysplasia with other brain malformations 4" "Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the TUBG1 gene." "" + "spermatogenic failure 12" "Any azoospermia in which the cause of the disease is a mutation in the NANOS1 gene." "" + "microcephaly 11, primary, autosomal recessive" "Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the PHC1 gene." "" + "renal-hepatic-pancreatic dysplasia 2" "Any renal-hepatic-pancreatic dysplasia in which the cause of the disease is a mutation in the NEK8 gene." "" + "mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive" "An inherited condition caused by mutation(s) in the SLC25A4 gene, encoding ADP/ATP translocase 1. It is characterized by hypertrophic cardiomyopathy." "" + "hypotonia, infantile, with psychomotor retardation and characteristic facies" "A rare, genetic neurodegenerative disorder characterized by severe, persistent hypotonia (presenting at birth or in early infancy), severe global developmental delay (with poor or absent speech, difficulty or inability to roll, sit or walk), profound intellectual disability, and failure to thrive. Additional manifestations include microcephaly, progressive peripheral spasticity, bilateral strabismus and nystagmus, constipation, and variable dysmorphic facial features (including plagiocephaly, broad forehead, small nose, low-set ears, micrognathia and open mouth with tented upper lip)." "" + "myopia 22, autosomal dominant" "" + "inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2" "Any inclusion body myopathy with Paget disease of bone and frontotemporal dementia in which the cause of the disease is a mutation in the HNRNPA2B1 gene." "" + "inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3" "Any inclusion body myopathy with Paget disease of bone and frontotemporal dementia in which the cause of the disease is a mutation in the HNRNPA1 gene." "" + "epidermolysis bullosa simplex due to BP230 deficiency" "" + "amyotrophic lateral sclerosis type 20" "Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the HNRNPA1 gene." "" + "autosomal recessive nonsyndromic hearing loss 88" "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the ELMOD3 gene." "" + "myopia 23, autosomal recessive" "" + "specific language impairment 5" "A communication disorder that involves the processing of linguistic information." "" + "chromosome 3q13.31 deletion syndrome" "3q13 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 3. Phenotype can be highly variable, but it is primarily characterized by significant developmental delay, postnatal growth above the mean, muscular hypotonia and distinctive facial features (such as broad and prominent forehead, hypertelorism, epicantic folds, anti-mongloid slanted eyes, ptosis, short philtrum, protruding lips with a full lower lip, high arched palate). Abnormal hypoplastic male genitalia and skeletal abnormalities are frequently present." "" + "retinitis pigmentosa with or without situs inversus" "Any retinitis pigmentosa in which the cause of the disease is a mutation in the ARL2BP gene." "" + "aortic aneurysm, familial thoracic 8" "Any familial thoracic aortic aneurysm and aortic dissection in which the cause of the disease is a mutation in the PRKG1 gene." "" + "" "true" + "infantile liver failure syndrome 1" "Any infantile liver failure in which the cause of the disease is a mutation in the LARS gene." "" + "age related macular degeneration 13" "Any age-related macular degeneration in which the cause of the disease is a mutation in the CFI gene." "" + "combined oxidative phosphorylation defect type 17" "Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the ELAC2 gene." "" + "catecholaminergic polymorphic ventricular tachycardia 5" "Any catecholaminergic polymorphic ventricular tachycardia in which the cause of the disease is a mutation in the TRDN gene." "" + "primary ciliary dyskinesia 22" "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the ZMYND10 gene." "" + "primary ciliary dyskinesia 23" "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the ARMC4 gene." "" + "mitochondrial complex III deficiency nuclear type 6" "Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the CYC1 gene." "" + "microcornea-myopic chorioretinal atrophy" "" + "Hartsfield-Bixler-Demyer syndrome" "" + "combined immunodeficiency due to MALT1 deficiency" "Combined immunodeficiency due to MALT1 deficiency is a rare, genetic form of primary immunodeficiency characterized by growth retardation, early recurrent pulmonary infections leading to bronchiectasis, inflammatory gastrointestinal disease, and other symptoms, such as rash, dermatitis, skin infections." "" + "mitochondrial DNA depletion syndrome 13" "Any mitochondrial DNA depletion syndrome in which the cause of the disease is a mutation in the FBXL4 gene." "" + "developmental and epileptic encephalopathy, 17" "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GNAO1 gene." "" + "aldosterone-producing adenoma with seizures and neurological abnormalities" "" + "developmental and epileptic encephalopathy, 18" "" + "infantile epilepsy syndrome" "A epilepsy syndrome that occurs between 28 days to one year of life.." "" + "primary ciliary dyskinesia 24" "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the RSPH1 gene." "" + "primary ciliary dyskinesia 25" "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAAF4 gene." "" + "basal ganglia calcification, idiopathic, 5" "" + "severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome" "" + "severe early-onset pulmonary alveolar proteinosis due to MARS deficiency" "" + "age related macular degeneration 14" "An age related macular degeneration associated with variation at or near the C2 and CFB genes on chromosome 6p21." "" + "Charcot-Marie-Tooth disease type 2R" "Any Charcot-Marie-Tooth disease type 2 in which the cause of the disease is a mutation in the TRIM2 gene." "" + "early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome" "Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome is a genetic neurodegenerative disease characterized by normal early development followed by childhood onset optic atrophy with progressive vision loss and eventually blindness, followed by progressive neurological decline that typically includes cerebellar ataxia, nystagmus, dorsal column dysfunction (decreased vibration and position sense), spastic paraplegia and finally tetraparesis." "" + "intellectual disability-hypotonia-spasticity-sleep disorder syndrome" "" + "primary ciliary dyskinesia 26" "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CFAP298 gene." "" + "sulfite oxidase deficiency due to molybdenum cofactor deficiency type C" "A molybdenum cofactor deficiency that has material basis in homozygous mutation in the GPHN gene on chromosome 14q23." "" + "intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome" "" + "short-rib thoracic dysplasia 8 with or without polydactyly" "An asphyxiating thoracic dystrophy that has material basis in compound heterozygous mutation in the WDR60 gene on chromosome 7q36." "" + "primary ciliary dyskinesia 27" "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CCDC65 gene." "" + "primary ciliary dyskinesia 28" "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the SPAG1 gene." "" + "telangiectasia, hereditary hemorrhagic, type 5" "Any hereditary hemorrhagic telangiectasia in which the cause of the disease is a mutation in the GDF2 gene." "" + "severe dermatitis-multiple allergies-metabolic wasting syndrome" "" + "alacrima, achalasia, and intellectual disability syndrome" "" + "myopathy due to myoadenylate deaminase deficiency" "" + "triosephosphate isomerase deficiency" "Triosephosphate isomerase (TPI) deficiency is a severe autosomal recessive inherited multisystem disorder of glycolytic metabolism characterized by hemolytic anemia and neurodegeneration." "" + "immunodeficiency 14" "" + "activated PI3K-delta syndrome" "" + "amyotrophic lateral sclerosis type 19" "Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the ERBB4 gene." "" + "developmental delay with autism spectrum disorder and gait instability" "Developmental delay with autism spectrum disorder and gait instability is a rare, genetic, neurological disorder characterized by infant hypotonia and feeding difficulties, global development delay, mild to moderated intellectual disability, delayed independent ambulation, broad-based gait with arms upheld and flexed at the elbow with brisk walking or running, and limited language skills. Behavior patterns are highly variable and range from sociable and affectionate to autistic behavior." "" + "hemochromatosis type 5" "Any hereditary hemochromatosis in which the cause of the disease is a mutation in the FTH1 gene." "" + "idiopathic CD4 lymphocytopenia" "Idiopathic CD4 lymphocytopenia (ICL) is a rare primary immunodeficiency disorder characterized by persistent CD4 T-cell lymphopenia (less than 300 cells/B5L on multiple occasions) not associated with any other underlying primary or secondary immune deficiency. Patients typically present opportunistic infections (with cryptococcal, mycobacterial, candidal, varicella zoster virus infections and progressive multifocal leukoencephalopathy being the most prevalent), malignancies (mainly lymphoproliferative disorders), or autoimmune disorders. Some individuals are asymptomatic and incidentally diagnosed." "" + "hypopigmentation-punctate palmoplantar keratoderma syndrome" "" + "corneal dystrophy, Fuchs endothelial, 8" "Any Fuchs' endothelial dystrophy in which the cause of the disease is a mutation in the AGBL1 gene." "" + "microphthalmia, syndromic 12" "Syndromic microphthalmia-12 is a rare disease characterized by bilateral small eyeballs (microphthalmia), lungs that are too small (pulmonary hypoplasia), and a defect or hole in the diaphragm that allows the abdominal contents to move into the chest cavity (diaphragmatic hernia). Other symptoms may include: Severe global developmental delay with progressive motor impairment due to spasticity and/or uncontrolled repetitive muscular contractions (dystonia), with or without abnormal quick movements that resemble dancing (chorea), Defects of the cerebellum (Chiari type I malformation) Accumulation of cerebrospinal fluid inside the brain (hydrocephaly), Severe feeding difficulties, Mild facial dysmorphism with broad nasal root and tip, and a very small chin (micrognathia), Severe language delay, Wheelchair-bound. Syndromic microphthalmia-12 is caused by mutations in the RARB gene. There is no specific treatment for this syndrome." "" + "candidiasis, familial, 8" "Any chronic mucocutaneous candidiasis in which the cause of the disease is a mutation in the TRAF3IP2 gene." "" + "juvenile onset Parkinson disease 19A" "Any Parkinson disease in which the cause of the disease is a mutation in the DNAJC6 gene." "" + "atypical juvenile parkinsonism" "Atypical juvenile parkinsonism (AJP) is a complex form of young-onset Parkinson disease (YOPD) that manifests with pyramidal signs, eye movement abnormalities, psychiatric manifestations (depression, anxiety, drug-induced psychosis, and impulse control disorders), intellectual disability, and other neurological symptoms (such as ataxia and epilepsy) along with classical parkinsonian symptoms." "" + "craniosynostosis 5, susceptibility to" "Any craniosynostosis in which the cause of the disease is a mutation in the ALX4 gene." "" + "early-onset Parkinson disease 20" "Any Parkinson disease in which the cause of the disease is a mutation in the SYNJ1 gene." "" + "reticulate acropigmentation of Kitamura" "A pigmentation disease characterized by lesions that initially arise as letiginous, hyperpigmented macules in a reticular pattern on the dorsal aspect of the hands and feet. Over time, lesions may spread proximally and may darken; palmoplantar pitting and dermatoglyphic disruption may also be present." "" + "chromosome 22q13 duplication syndrome" "" + "Ehlers-Danlos syndrome, musculocontractural type 2" "Any Ehlers-Danlos syndrome, musculocontractural type in which the cause of the disease is a mutation in the DSE gene." "" + "autosomal recessive nonsyndromic hearing loss 76" "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the SYNE4 gene." "" + "severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome" "" + "testicular anomalies with or without congenital heart disease" "" + "periventricular nodular heterotopia 6" "Any periventricular nodular heterotopia in which the cause of the disease is a mutation in the ERMARD gene." "" + "leukemia, acute lymphoblastic, susceptibility to, 3" "Any precursor B-cell acute lymphoblastic leukemia in which the cause of the disease is a mutation in the PAX5 gene." "" + "van Maldergem syndrome 2" "Any van Maldergem syndrome in which the cause of the disease is a mutation in the FAT4 gene." "" + "Schaaf-Yang syndrome" "" + "hereditary sensory and autonomic neuropathy type 7" "Hereditary sensory and autonomic neuropathy type 7 (HSAN7) is a genetic condition that causes the inability to feel pain, excessive sweating, and gastrointestinal issues. Gastrointestinal issues can cause failure to thrive, painful constipation, and diarrhea. The constipation is due to intestinal dysmotility, where the the muscles and nerves of the digestive system do not move food through the digestive tract like it should. Signs and symptoms of HSAN7 usually appear at birth or during infancy. The inability to feel pain often leads to repeated, severe injuries, including bone fractures and joint dislocations. People with HSAN7 may also heal slowly putting them at risk for further complications, such as infection. Excessive sweating may cause itching. Other features may include partial insensitivity to cold and hot temperatures, mild muscle weakness, and motor skill delays. HSAN7 is not known to affect learning or intelligence. Treatment of HSAN7 aims to prevent injury and treat gastrointestinal and orthopedic problems. HSAN7 is caused by a mutation in the SCN11A gene. People with HSAN7 have a 1 in 2 or 50% chance of passing the condition on to each of their children. This pattern of inheritance is called ' autosomal dominant.'" "" + "autosomal dominant hereditary sensory and autonomic neuropathy" "Autosomal dominant form of hereditary sensory and autonomic neuropathy." "" + "Diamond-Blackfan anemia 12" "Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPL15 gene." "" + "episodic pain syndrome, familial, 2" "Any familial episodic pain syndrome in which the cause of the disease is a mutation in the SCN10A gene." "" + "sodium channelopathy-related small fiber neuropathy" "" + "familial episodic pain syndrome with predominantly lower limb involvement" "A rare, autosomal dominant disorder caused by mutation in the SCN11A gene. It is characterized by intense episodic pain mainly affecting the distal lower extremities in early childhood. The pain diminishes with age." "" + "autism spectrum disorder - epilepsy - arthrogryposis syndrome" "SLC35A3-CDG is a form of congenital disorders of N-linked glycosylation characterized by distal arthrogryposis (mild flexion contractures of the fingers, deviation of the distal phalanges, swan-neck deformity), retromicrognathia, general muscle hypotonia, delayed psychomotor development, autism spectrum disorder (speech delay, abnormal use of speech, difficulties in initiating, understanding and maintaining social interaction, limited non-verbal communication and repetitive behavior), seizures, microcephaly and mild to moderate intellectual disability that becomes apparent with age. The disease is caused by mutations in the gene SLC35A3 (1p21)." "" + "multiple fibroadenoma of the breast" "Mammary polyadenomatosis is characterised by the presence in both breasts of multiple voluminous fibroadenomas with heterogeneous echo patterns." "" + "familial hyperprolactinemia" "Familial hyperprolactinemia is a rare, genetic endocrine disorder characterized by persistently high prolactin serum levels (not associated with gestation, puerperium, drug intake or pituitary tumor) in multiple affected family members. Clinically it manifests with signs usually observed in hyperprolactinemia, which are: secondary medroxyprogesterone acetate (MPA)-negative amenorrhea and galactorrhea in female patients, and hypogonadism and decreased testosterone level-driven sexual disfunction in male patients. Oligomenorrhea and primary infertility have also been reported in some female patients." "" + "melioidosis, susceptibility to" "" + "melioidosis" "An infection that is caused by Burkholderia pseudomallei, which is found in soil and water; symptoms vary widely, but most commonly include fever, cough, pneumonia, arthralgia, myalgia, and skin ulceration." "" + "familial hypobetalipoproteinemia 1" "Any hypobetalipoproteinemia in which the cause of the disease is a mutation in the APOB gene." "" + "autoimmune lymphoproliferative syndrome type 3" "A rare, primary immunodeficiency. It is caused by a currently undetermined defect in the Fas-induced apoptosis pathway. No mutations in Fas, FASLG or CASP10 are detectable. Disruption of Fas-induced apoptosis impairs lymphocyte homeostasis and immune tolerance. Characteristic laboratory findings include an increase in circulating, double-negative (CD4-/CD8-) T cells in the setting of immune-mediated anemia, thrombocytopenia and neutropenia. Clinical signs present in childhood include fatigue, pallor, bruising, hepatosplenomegaly and chronic, non-malignant, non-infectious lymphadenopathy. The clinical course is influenced by a strong association with other autoimmune disorders and an increased risk for developing Hodgkin and non-Hodgkin lymphoma." "True" + "otofaciocervical syndrome 2" "Any otofaciocervical syndrome in which the cause of the disease is a mutation in the PAX1 gene." "" + "complement factor b deficiency" "" + "retinitis pigmentosa 67" "Any retinitis pigmentosa in which the cause of the disease is a mutation in the NEK2 gene." "" + "nephrotic syndrome, type 9" "Any nephrotic syndrome in which the cause of the disease is a mutation in the COQ8B gene." "" + "congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome" "" + "disorder of asparagine metabolism" "" + "neuronopathy, distal hereditary motor, type 2D" "Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the FBXO38 gene." "" + "immunodeficiency, common variable, 10" "Any common variable immunodeficiency in which the cause of the disease is a mutation in the NFKB2 gene." "" + "growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome" "Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the SFXN4 gene." "" + "Rienhoff syndrome" "Loeys-Dietz syndrome-5 (LDS5), also known as Rienhoff (pronounced REENhoff) syndrome, is characterized by syndromic presentation of aortic aneurysms involving the thoracic and/or abdominal aorta, with risk of dissection and rupture. Other systemic features include cleft palate, bifid uvula, mitral valve disease, skeletal overgrowth, cervical spine instability, and clubfoot deformity; however, not all clinical features occur in all patients. In contrast to other forms of LDS, no striking aortic or arterial tortuosity is present in these patients, and there is no strong evidence for early aortic dissection." "" + "8q24.3 microdeletion syndrome" "" + "otosclerosis 10" "" + "Alzheimer disease 18" "Any Alzheimer disease in which the cause of the disease is a mutation in the ADAM10 gene." "" + "age related macular degeneration 15" "Any age-related macular degeneration in which the cause of the disease is a mutation in the C9 gene." "" + "severe combined immunodeficiency due to IKK2 deficiency" "Severe combined immunodeficiency due to IKK2 deficiency is a rare, genetic form of primary immunodeficiency characterized by life-threatening bacterial, fungal and viral infections with the onset in infancy, and failure to thrive. Typically, hypogammaglobulinemia or agammaglobulinemia and normal levels of T and B cells are present." "" + "combined immunodeficiency due to OX40 deficiency" "Combined immunodeficiency due to OX40 deficiency is a rare combined T and B cell immunodeficiency characterized by susceptibility to develop an aggressive, childhood-onset, disseminated, cutaneous and systemic Kaposi sarcoma." "" + "combined oxidative phosphorylation deficiency 19" "Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the LYRM4 gene." "" + "severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency" "" + "STT3A-CDG" "STT3A-CDG is a form of congenital disorders of N-linked glycosylation characterized by developmental delay, intellectual disability, failure to thrive, hypotonia and seizures. STT3A-CDG is caused by mutations in the gene STT3A (11q23.3)." "" + "STT3B-CDG" "STT3B-CDG is a form of congenital disorders of N-linked glycosylation characterized by intrauterine growth retardation, microcephaly, failure to thrive, developmental delay, intellectual disability, hypotonia, seizures, optic nerve atrophy and respiratory difficulties. Genital abnormalities (micropenis, hypoplastic scrotum, undescended testes) have also been reported. STT3B-CDG is caused by mutations in the gene STT3B (3p24.1)." "" + "palmoplantar keratoderma, Nagashima type" "Keratosis, Nagashima-type is a transgressive and nonprogressive palmoplantar keratoderma resembling a mild form of mal de Meleda." "" + "microcephaly-thin corpus callosum-intellectual disability syndrome" "Microcephaly-thin corpus callosum-intellectual disability syndrome is a rare, genetic, syndromic intellectual disability disease characterized by progressive postnatal microcephaly and global developmental delay, as well as moderate to profound intellectual disability, difficulty or inability to walk, pyramidal signs (including spasticity, hyperreflexia and extensor plantar response) and thin corpus callosum revealed by brain imaging. Ophthalmologic signs (including nystagmus, strabismus and abnormal retinal pigmentation), foot deformity and genital anomalies may also be associated." "" + "L-ferritin deficiency" "" + "Fanconi renotubular syndrome 3" "Any Fanconi syndrome in which the cause of the disease is a mutation in the EHHADH gene." "" + "combined immunodeficiency due to CD3gamma deficiency" "Combined immunodeficiency due to CD3gamma deficiency is an extremely rare genetic combined primary immunodeficiency characterized by a selective partial lymphopenia (T+/-B+NK+) phenotype and decreased CD3 complex resulting in a variable but usually mild clinical presentation ranging from asymptomatic until adulthood to high susceptibility to infections from early infancy with predominant automimmune manifestations." "" + "developmental dysplasia of the hip 2" "" + "immunodeficiency 18" "Immunodeficiency-18 is an autosomal recessive primary immunodeficiency characterized by onset in infancy or early childhood of recurrent infections. Immunologic work-up of the IMD18 SCID patients shows a T cell-negative, B cell-positive, natural killer (NK) cell-positive phenotype, whereas T-cell development is not impaired in the mild form of IMD18." "" + "obsolete arrhythmogenic right ventricular dysplasia, familial, 13" "" "true" + "immunodeficiency 19" "Any severe combined immunodeficiency in which the cause of the disease is a mutation in the CD3D gene." "" + "cholangiocarcinoma, susceptibility to" "" + "hereditary spastic paraplegia 72" "Any pure hereditary spastic paraplegia in which the cause of the disease is a mutation in the REEP2 gene." "" + "pure hereditary spastic paraplegia" "" + "autosomal dominant nonsyndromic hearing loss 56" "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the TNC gene." "" + "short-rib thoracic dysplasia 10 with or without polydactyly" "An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the IFT172 gene on chromosome 2p23." "" + "congenital dyserythropoietic anemia type type 1B" "" + "neuropathy, hereditary sensory, type 1F" "Any hereditary sensory and autonomic neuropathy type 1 in which the cause of the disease is a mutation in the ATL3 gene." "" + "short-rib thoracic dysplasia 11 with or without polydactyly" "An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the WDR34 gene on chromosome 9q34." "" + "Joubert syndrome 21" "Any Joubert syndrome in which the cause of the disease is a mutation in the CSPP1 gene." "" + "Joubert syndrome with Jeune asphyxiating thoracic dystrophy" "Joubert syndrome with Jeune asphyxiating thoracic dystrophy (JATD) is an extremely rare genetic bone disorder characterized by the classic features of Joubert syndrome (i.e. malformation of the brainstem causing ataxia, hypotonia,cognitive impairment, and abnormal eyemovements), associated with the skeletal anomalies found in JATD including short-rib dysplasia and narrow thorax causing respiratory failure, short limbs, and metaphyseal changes." "" + "macrocephaly-developmental delay syndrome" "Macrocephaly-developmental delay syndrome is a rare, intellectual disability syndrome characterized by macrocephaly, mild dysmorphic features (frontal bossing, long face, hooded eye lids with small, downslanting palpebral fissures, broad nasal bridge, and prominent chin), global neurodevelopmental delay, behavioral abnormalities (e.g. anxiety, stereotyped movements) and absence or generalized tonic-clonic seizures. Additional features reported in some patients include craniosynostosis, fifth finger clinodactyly, recurrent pneumonia, and hepatosplenomegally." "" + "neurodegeneration with brain iron accumulation 6" "COASY protein-associated neurodegeneration (CoPAN) is a very rare, slowly progressive form of neurodegeneration with brain iron accumulation (NBIA) characterized by classic NBIA features. The clinical manifestations include early-onset spastic-dystonic paraparesis, oromandibular dystonia, dysarthria, parkinsonism, axonal neuropathy, progressive cognitive impairment, complex motor tics, and obsessive-compulsive disorder." "" + "autosomal dominant nonsyndromic hearing loss 54" "An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 5q31." "" + "leukoencephalopathy with mild cerebellar ataxia and white matter edema" "" + "autosomal dominant nonsyndromic hearing loss 58" "An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 2p21-p12." "" + "chromosome 15q11.2 deletion syndrome" "15q11.2 microdeletion syndrome is a rare partial autosomal monosomy with a variable phenotypic expression and reduced penetrance associated with an increased susceptibility to neuropsychiatric or neurodevelopmental disorders including delayed psychomotor development, speech delay, autism spectrum disorder, attention deficit-hyperactivity disorder, obsessive-compulsive disorder, epilepsy or seizures. It may also include mild non-specific dysmorphic features (such as dysplastic ears, broad forehead, hypertelorism), cleft palate, neurological and neuroimaging abnormalities (such as ataxia and muscular hypotonia)." "" + "hereditary spastic paraplegia 57" "An extremely rare, complex type of hereditary spastic paraplegia, characterized by onset in infancy of pronounced leg spasticity (leading to the inability to walk independently), reduced visual acuity due to optic atrophy, and distal wasting of the hands and feet due to an axonal demyelinating sensorimotor neuropathy. SPG57 is caused by mutations in the TFG gene (3q12.2) encoding protein TFG, which is thought to play a role in ER microtubular architecture and function." "" + "Warburg micro syndrome 4" "Any Warburg micro syndrome in which the cause of the disease is a mutation in the TBC1D20 gene." "" + "Joubert syndrome 22" "Any Joubert syndrome in which the cause of the disease is a mutation in the PDE6D gene." "" + "chromosome 5q12 deletion syndrome" "PDE4D haploinsufficiency syndrome is a rare syndromic intellectual disability characterized by developmental delay, intellectual disability, low body mass index, long arms, fingers and toes, prominent nose and small chin." "" + "schwannomatosis 2" "" + "proximal myopathy with extrapyramidal signs" "Proximal myopathy with extrapyramidal signs is a rare, hereditary non-dystrophic myopathy characterized by proximal muscle weakness, delayed motor development, learning difficulties, and progressive extrapyramidal motor signs including chorea, dystonia and tremor. Variable additional features have been reported - ataxia, microcephaly, ophthalmoplegia, ptosis, and optic atrophy." "" + "dowling-degos disease 3" "" + "hereditary spastic paraplegia 62" "Autosomal recessive spastic paraplegia type 62 is a pure or complex form of hereditary spastic paraplegia characterized by an onset in the first decade of life of spastic paraperesis (more prominent in lower than upper extremities) and unsteady gait, as well as increased deep tendon reflexes, amyotrophy, cerebellar ataxia, and flexion contractures of the knees, in some." "" + "hereditary spastic paraplegia 64" "An extremely rare and complex form of hereditary spastic paraplegia (see this term), reported in only 4 patients from 2 families to date, characterized by spastic paraplegia (presenting between the ages of 1 to 4 years with abnormal gait) associated with microcephaly, amyotrophy, cerebellar signs (e.g. dysarthria) aggressiveness, delayed puberty and mild to moderate intellectual disability. SPG64 is due to mutations in the ENTPD1 gene (10q24.1), encoding ectonucleoside triphosphate diphosphohydrolase 1." "" + "hereditary spastic paraplegia 61" "A rare, complex form of hereditary spastic paraplegia characterized by an onset in infancy of spastic paraplegia (presenting with the inability to walk unsupported and a scissors gait) associated with a motor and sensory polyneuropathy with loss of terminal digits and acropathy. SPG61 is due to a mutation in the ARL6IP1 gene (16p12-p11.2) encoding the ADP-ribosylation factor-like protein 6-interacting protein 1." "" + "hereditary spastic paraplegia 63" "An extremely rare and complex form of hereditary spastic paraplegia characterized by an onset in infancy of spastic paraplegia (presenting with delayed walking and a scissors gait) associated with short stature, and normal cognition. Periventricular deep white matter changes in the corpus callosum are noted on brain imaging. SPG63 is caused by a homozygous mutation in the AMPD2 gene (1p13.3) encoding AMP deaminase 2." "" + "vasculitis due to ADA2 deficiency" "Vasculitis due to ADA2 deficiency is a rare, genetic, systemic and rheumatologic disease due to adenosine deaminase-2 inactivating mutations, combining variable features of autoinflammation, vasculitis, and a mild immunodeficiency. Variable clinical presentation includes chronic or recurrent systemic inflammation with fever, livedo reticularis or racemosa, early-onset ischemic or hemorrhagic strokes, peripheral neuropathy, abdominal pain, hepatosplenomegaly, portal hypertension, cutaneous polyarteritis nodosa, variable cytopenia and immunoglobulin deficiency." "" + "Dowling-Degos disease 4" "Any Dowling-Degos disease in which the cause of the disease is a mutation in the POGLUT1 gene." "" + "familial temporal lobe epilepsy 6" "A temporal lobe epilepsy that has material basis in variation in the chromosome region 3q25-q26." "" + "obesity due to CEP19 deficiency" "" + "hereditary sclerosing poikiloderma with tendon and pulmonary involvement" "Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome is a rare, genetic, hereditary poikiloderma syndrome characterized by early-onset poikiloderma (mainly on the face), hypotrichosis, hypohidrosis, muscle and tendon contractures with varus foot deformity, progressive proximal and distal muscle weakness in all extremities, and progressive pulmonary fibrosis. Mild lymphedema of the extremities, growth retardation, liver impairment, exocrine pancreatic insufficiency and hematologic abnormalities are additional variable features." "" + "autosomal recessive spinocerebellar ataxia 15" "Any autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome in which the cause of the disease is a mutation in the RUBCN gene." "" + "auriculocondylar syndrome 3" "" + "autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity" "" + "sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome" "" + "obsolete Mitchell-Riley syndrome" "" "true" + "Alzheimer disease 19" "Any Alzheimer disease in which the cause of the disease is a mutation in the PLD3 gene." "" + "pancytopenia-developmental delay syndrome" "" + "hyperphosphatasia with intellectual disability syndrome 4" "Any hyperphosphatasia-intellectual disability syndrome in which the cause of the disease is a mutation in the PGAP3 gene." "" + "renal hypodysplasia/aplasia 2" "Any renal agenesis in which the cause of the disease is a mutation in the FGF20 gene." "" + "renal agenesis" "Renal agenesis (RA) is a form of renal tract malformation characterized by the complete absence of development of one or both kidneys (unilateral RA or bilateral RA respectively), accompanied by absent ureter(s)." "" + "optic atrophy-intellectual disability syndrome" "Optic atrophy-intellectual disability syndrome is a rare, hereditary, syndromic intellectual disability characterized by developmental delay, intellectual disability, and significant visual impairment due to optic nerve atrophy, optic nerve hypoplasia or cerebral visual impairment. Other common clinical signs and symptoms are hypotonia, oromotor dysfunction, seizures, autism spectrum disorder, and repetitive behaviors. Dysmorphic facial features are variable and nonspecific." "" + "premature ovarian failure 8" "Any primary ovarian failure in which the cause of the disease is a mutation in the STAG3 gene." "" + "premature ovarian failure 9" "Any primary ovarian failure in which the cause of the disease is a mutation in the HFM1 gene." "" + "retinitis pigmentosa 68" "Any retinitis pigmentosa in which the cause of the disease is a mutation in the SLC7A14 gene." "" + "pachyonychia congenita 3" "Any pachyonychia congenita in which the cause of the disease is a mutation in the KRT6A gene." "" + "pachyonychia congenita 4" "Any pachyonychia congenita in which the cause of the disease is a mutation in the KRT6B gene." "" + "nemaline myopathy 9" "Any nemaline myopathy in which the cause of the disease is a mutation in the KLHL41 gene." "" + "palmoplantar keratoderma, nonepidermolytic, focal or diffuse" "" + "developmental and epileptic encephalopathy, 19" "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GABRA1 gene." "" + "atrial standstill 2" "Any atrial standstill in which the cause of the disease is a mutation in the NPPA gene." "" + "obsolete eculizumab, poor response to" "" "true" + "Moyamoya disease with early-onset achalasia" "Moyamoya disease with early-onset achalasia is an exceedingly rare autosomal recessive neurological disorder reported only in a few families so far. It is characterized by the association of early onset achalasia (manifesting in infancy) with severe intracranial angiopathy that is consistent with moyamoya angiopathy in most cases (moyamoya disease). Other variable associated manifestations include hypertension, Raynaud phenomenon, and livedo reticularis." "" + "hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency" "" + "polymicrogyria, bilateral perisylvian, autosomal recessive" "" + "severe combined immunodeficiency due to LCK deficiency" "" + "diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome" "" + "intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency" "" + "complex cortical dysplasia with other brain malformations 5" "Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the TUBB2A gene." "" + "IL21-related infantile inflammatory bowel disease" "" + "autosomal recessive spinocerebellar ataxia 16" "Any autosomal recessive cerebellar ataxia in which the cause of the disease is a mutation in the STUB1 gene." "" + "atrial fibrillation, familial, 15" "Any familial atrial fibrillation in which the cause of the disease is a mutation in the NUP155 gene." "" + "complex cortical dysplasia with other brain malformations 6" "Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the TUBB gene." "" + "female infertility due to zona pellucida defect" "Female infertility due to zona pellucida defect is a rare, genetic, female infertility disorder characterized by the presence of abnormal oocytes that lack a zona pellucida. Affected individuals are unable to conceive despite having normal menstrual cycles and sex hormone levels, as well as no obstructions in the fallopian tubes or defects of the uterus or adnexa." "" + "inherited oocyte maturation defect" "" + "Desbuquois dysplasia 2" "Any Desbuquois dysplasia in which the cause of the disease is a mutation in the XYLT1 gene." "" + "congenital heart defects, multiple types, 4" "Any congenital heart defects, multiple types in which the cause of the disease is a mutation in the NR2F2 gene." "" + "retinitis pigmentosa 69" "Any retinitis pigmentosa in which the cause of the disease is a mutation in the KIZ gene." "" + "white sponge nevus 2" "" + "short stature with microcephaly and distinctive facies" "" + "intellectual disability, autosomal recessive 42" "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the PGAP1 gene." "" + "pontocerebellar hypoplasia type 10" "Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the CLP1 gene." "" + "Seckel syndrome 8" "Any Seckel syndrome in which the cause of the disease is a mutation in the DNA2 gene." "" + "pontocerebellar hypoplasia type 9" "Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the AMPD2 gene." "" + "abdominal obesity-metabolic syndrome 3" "Any metabolic syndrome in which the cause of the disease is a mutation in the DYRK1B gene." "" + "immunodeficiency 23" "" + "intellectual disability, autosomal recessive 43" "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the WASHC4 gene." "" + "cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis" "" + "mitochondrial complex III deficiency nuclear type 7" "Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the UQCC2 gene." "" + "intellectual disability, autosomal dominant 24" "Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the DEAF1 gene." "" + "AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome" "" + "pigmented nodular adrenocortical disease, primary, 4" "Any primary pigmented nodular adrenocortical disease in which the cause of the disease is a mutation in the PRKACA gene." "" + "developmental and epileptic encephalopathy, 21" "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the NECAP1 gene." "" + "autism spectrum disorder due to AUTS2 deficiency" "Autism spectrum disorder due to AUTS2 deficiency is a rare genetic syndromic intellectual disability characterized by global developmental delay and borderline to severe intellectual disability, autism spectrum disorder with obsessive behavior, stereotypies, hyperactivity but frequently friendly and affable personality, feeding difficulties, short stature, muscular hypotonia, microcephaly, characteristic dysmorphic features (hypertelorism, high arched eyebrows, ptosis, deep and/or broad nasal bridge, broad/prominent nasal tip, short and/or upturned philtrum, narrow mouth, and micrognathia), and skeletal anomalies (kyphosis and/or scoliosis, arthrogryposis, slender habitus and extremities). Other clinical features may include hernias, congenital heart defects, cryptorchidism and seizures." "" + "chromosome 16 inversion, 0.45-Mb" "" + "chromosome 16 disorder" "Chromosomal disorder in which chromosome 16 is affected." "" + "autosomal recessive nonsyndromic hearing loss 101" "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the GRXCR2 gene." "" + "mitochondrial complex III deficiency nuclear type 8" "Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the LYRM7 gene." "" + "spermatogenic failure 13" "Any azoospermia in which the cause of the disease is a mutation in the TAF4B gene." "" + "spermatogenic failure 14" "Any azoospermia in which the cause of the disease is a mutation in the ZMYND15 gene." "" + "Aicardi-Goutieres syndrome 7" "Any Aicardi-Goutieres syndrome in which the cause of the disease is a mutation in the IFIH1 gene." "" + "melanoma, cutaneous malignant, susceptibility to, 10" "" + "postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome" "Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome is a rare, genetic developmental defect during embryogenesis characterized primarily by congenital hypopituitarism and/or postaxial polydactyly. It can be associated with short stature, delayed bone age, hypogonadotropic hypogonadism, and/or midline facial defects (e.g. hypotelorism, mild midface hypoplasia, flat nasal bridge, and cleft lip and/or palate). Hypoplastic anterior pituitary and ectopic posterior pituitary lobe are frequent findings on MRI examination." "" + "pontocerebellar hypoplasia type 2E" "Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the VPS53 gene." "" + "progressive cerebello-cerebral atrophy" "" + "developmental and epileptic encephalopathy, 23" "" + "cone-rod dystrophy 19" "Any cone-rod dystrophy in which the cause of the disease is a mutation in the TTLL5 gene." "" + "nephrotic syndrome, type 10" "Any nephrotic syndrome in which the cause of the disease is a mutation in the EMP2 gene." "" + "nephronophthisis 18" "Any nephronophthisis in which the cause of the disease is a mutation in the CEP83 gene." "" + "congenital diarrhea 7 with exudative enteropathy" "Congenital chronic diarrhea with protein-losing enteropathy is a rare, genetic, intestinal disease characterized by early-onset, chronic, non-infectious, non-bloody, watery diarrhea associated with protein-losing enteropathy which results in hypoalbuminemia, hypogammaglobulinemia and elevated stool alpha-1-antitrypsin. Patients typically present severe, intractable diarrhea, failure to thrive, recurrent infections and edema." "" + "intellectual disability, autosomal dominant 27" "" + "developmental and epileptic encephalopathy, 24" "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the HCN1 gene." "" + "primary ciliary dyskinesia 29" "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CCNO gene." "" + "ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder" "An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of ADNP on chromosome 20q13.13." "" + "colobomatous microphthalmia-rhizomelic dysplasia syndrome" "Colobomatous microphthalmia-rhizomelic dysplasia syndrome is a rare, genetic developmental defect during embryogenesis characterized by a range of developmental eye anomalies (including anophthalmia, microphthalmia, colobomas, microcornea, corectopia, cataract) and symmetric limb rhizomelia with short stature and contractures of large joints. Intellectual disability with autistic features, macrocephaly, dysmorphic features, urogenital anomalies (hypospadia, cryptorchidism), cutaneous syndactyly and precocious puberty may also be present." "" + "cholestasis, progressive familial intrahepatic, 4" "Any progressive familial intrahepatic cholestasis in which the cause of the disease is a mutation in the TJP2 gene." "" + "tall stature-intellectual disability-facial dysmorphism syndrome" "" + "myopathy, tubular aggregate, 2" "Any tubular aggregate myopathy in which the cause of the disease is a mutation in the ORAI1 gene." "" + "hypotrichosis 12" "Any hypotrichosis in which the cause of the disease is a mutation in the RPL21 gene." "" + "amelogenesis imperfecta hypomaturation type 2A5" "Any amelogenesis imperfecta in which the cause of the disease is a mutation in the SLC24A4 gene." "" + "platelet-type bleeding disorder 18" "Bleeding disorder due to CalDAG-GEFI deficiency is a rare hematologic disease due to defective platelet function and characterized by mucocutaneous bleeding starting in infancy (around 18 months of age), presenting with prolonged and severe epistaxis, hematomas and bleeding after tooth extraction. Massive menorrhagia and chronic anemia have also been reported." "" + "leukoencephalopathy, progressive, with ovarian failure" "" + "ovarioleukodystrophy" "" + "familial median cleft of the upper and lower lips" "Familial median cleft of the upper and lower lips is a rare and isolated orofacial defect characterized by incomplete median clefts of both the lower lip (limited to the vermilion, with no muscle involvement) and upper lip (with muscle involvement), double labial frenulum and fusion of the upper gingival and upper labial mucosa (resulting in a shallow upper vestibular fold), in addition to poor dental alignment, and increased interdental distance between the lower and upper median incisors. Variable expressivity has been reported in an affected family." "" + "polyglucosan body myopathy 1 with or without immunodeficiency" "A rare, genetic, glycogen storage disorder characterized by polyglucosan accumulation in various tissues, manifesting with progressive proximal muscle weakness in the lower limbs and rapidly progressive, usually dilated, cardiomyopathy. Hepatic involvement and growth retardation may be associated. Early-onset immunodeficiency and autoinflammation, presenting with recurrent bacterial infections, have also been reported." "" + "hypotrichosis 13" "Any hypotrichosis in which the cause of the disease is a mutation in the KRT71 gene." "" + "severe combined immunodeficiency due to CTPS1 deficiency" "Severe combined immunodeficiency (SCID) due to CTPS1 deficiency is a rare primary immunodeficiency disorder due to impaired capacity of activated T- and B-cells to proliferate in response to antigen receptor-mediated activation characterized by early-onset, severe, persistent and/or recurrent viral infections due to Epstein-Barr virus (EBV) and Varicella Zoster virus (VZV), (including generalized varicella), as well as recurrent sino-pulmonary bacterial infections due to encapsulated pathogens." "" + "developmental and epileptic encephalopathy, 25" "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SLC13A5 gene." "" + "lymphatic malformation 4" "Any hereditary lymphedema in which the cause of the disease is a mutation in the VEGFC gene." "" + "Diamond-Blackfan anemia 13" "Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS29 gene." "" + "frontotemporal dementia and/or amyotrophic lateral sclerosis 2" "An amyotrophic lateral sclerosis that has material basis in mutation in the CHCHD10 gene on chromosome 22. It is characterized by adult onset of either frontotemporal dementia and/or amyotrophic lateral sclerosis." "" + "dilated cardiomyopathy 1NN" "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the RAF1 gene." "" + "combined oxidative phosphorylation defect type 20" "Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the VARS2 gene." "" + "combined oxidative phosphorylation defect type 21" "Combined oxidative phosphorylation defect type 21 is a rare mitochondrial disease characterized by axial hypotonia with limb hypertonia, developmental delay, hyperlactatemia, central nervous system anomalies visible on magnetic resonance imaging (e.g. corpus callosum hypoplasia, lesions of the globus pallidus) and multiple deficiency of the mitochondrial respiratory chain complexes in muscle tissue, but not in fibroblasts or liver." "" + "ataxia-telangiectasia-like disorder 2" "" + "retinitis pigmentosa 70" "Any retinitis pigmentosa in which the cause of the disease is a mutation in the PRPF4 gene." "" + "tall stature-scoliosis-macrodactyly of the great toes syndrome" "Tall stature-scoliosis-macrodactyly of the great toes syndrome is a rare, genetic, overgrowth or tall stature syndrome with skeletal involvement characterized by early and proportional overgrowth, osteopenia, lumbar scoliosis, arachnodactyly of the hands and feet, macrodactyly of the hallux, coxa valga with epiphyseal dysplasia of the femoral capital epiphyses and susceptibility to slipped capital femoral epiphysis." "" + "severe neurodegenerative syndrome with lipodystrophy" "" + "short stature due to GHSR deficiency" "Short stature due to GHSR deficiency is a rare, genetic, endocrine growth disease, resulting from growth hormone secretagogue receptor (GHSR) deficiency, characterized by postnatal growth delay that results in short stature (less than -2 SD). The pituitary gland is typically without morphological changes, although anterior pituitary gland hypoplasia has been reported." "" + "Webb-Dattani syndrome" "" + "STING-associated vasculopathy with onset in infancy" "STING-associated vasculopathy with onset in infancy (SAVI) is a rare, genetic autoinflammatory disorder, type I interferonopathy due to constitutive STING (STimulator of INterferon Genes) activation, characterized by neonatal or infantile onset systemic inflammation and small vessel vasculopathy resulting in severe skin, pulmonary and joint lesions. Patients present with intermittent low-grade fever, recurrent cough and failure to thrive, in association with progressive interstitial lung disease, polyarthritis and violaceous scaling lesions on fingers, toes, nose, cheeks, and ears (which are exacerbated by cold exposure) that often progress to chronic acral ulceration, necrosis and autoamputation." "" + "pancreatic agenesis 2" "Any pancreatic agenesis in which the cause of the disease is a mutation in the PTF1A gene." "" + "megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2" "Any megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome in which the cause of the disease is a mutation in the AKT3 gene." "" + "megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3" "Any megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome in which the cause of the disease is a mutation in the CCND2 gene." "" + "intellectual disability, autosomal recessive 44" "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the METTL23 gene." "" + "spinocerebellar ataxia type 37" "Spinocerebellar ataxia type 37 (SCA37) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1), characterized by a cerebellar syndrome along with altered vertical eye movements." "" + "myopia 24, autosomal dominant" "" + "hyperlipoproteinemia, type 1D" "Any familial hyperlipidemia in which the cause of the disease is a mutation in the GPIHBP1 gene." "" + "orofaciodigital syndrome type 14" "Orofaciodigital syndrome type 14 is a rare subtype of orofaciodigital syndrome, with autosomal recessive inheritance and C2CD3 mutations, characterized by severe microcephaly, trigonocephaly, severe intellectual disability and micropenis, in addition to oral, facial and digital malformations (gingival frenulae, lingual hamartomas, cleft/lobulated tongue, cleft palate, telecanthus, up-slanting palpebral fissures, microretrognathia, postaxial polydactyly of hands and duplication of hallux). Corpus callosum agenesis and vermis hypoplasia with molar tooth sign, on brain imaging, are also associated." "" + "STAT3-related early-onset multisystem autoimmune disease" "" + "autoimmune hemolytic anemia" "Autoimmune hemolytic anemia (AIHA) is an autoimmune disorder in which various types of auto-antibodies are directed against red blood cells causing their survival to be shortened and resulting in hemolytic anemia." "" + "kallikrein, decreased urinary activity of" "" + "ACTH-independent macronodular adrenal hyperplasia 2" "Any Cushing syndrome due to macronodular adrenal hyperplasia in which the cause of the disease is a mutation in the ARMC5 gene." "" + "spinocerebellar ataxia type 38" "Spinocerebellar ataxia type 38 (SCA38) is a subtype of autosomal dominant cerebellar ataxia type 3 characterized by the adult-onset (average age: 40 years) of truncal ataxia, gait disturbance and gaze-evoked nystagmus. The disease is slowly progressive with dysarthria and limb ataxia following. Additional manifestations include diplopia and axonal neuropathy." "" + "myopathy, centronuclear, 5" "Any autosomal recessive centronuclear myopathy in which the cause of the disease is a mutation in the SPEG gene." "" + "ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome" "Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome is a rare neuro-ophthalmological disease characterized by nonprogressive cerebellar ataxia, delayed motor and language development, and intellectual disability in addition to ophthalmological abnormalities (e.g. oculomotor apraxia, strabismus, amblyopia, retinal dystrophy, and myopia). Cerebellar cysts, cerebellar dysplasia and cerebellar vermis hypoplasia, seen on magnetic resonance imaging, are also characteristic of the disease." "" + "short stature due to primary acid-labile subunit deficiency" "Short stature due to primary acid-labile subunit (ALS) deficiency is characterized by moderate postnatal growth deficit, markedly low circulating levels of insulin-like growth factor 1 (IGF-1) and insulin-like growth factor binding protein 3 (IGFBP-3), and hyperinsulinemia, in the absence of growth hormone (GH) deficiency or GH insensitivity." "" + "glucocorticoid resistance" "" + "vesicoureteral reflux 8" "Any vesicoureteral reflux in which the cause of the disease is a mutation in the TNXB gene." "" + "severe combined immunodeficiency due to DNA-PKcs deficiency" "Severe combined immunodeficiency (SCID) due to DNA-PKcs deficiency is an extremely rare type of SCID characterized by the classical signs of SCID (severe and recurrent infections, diarrhea, failure to thrive), absence of T and B lymphocytes, and cell sensitivity to ionizing radiation." "" + "obsolete congenital deficiency in alpha-fetoprotein" "Congenital deficiency in alpha-fetoprotein is a benign genetic condition characterized by a dramatically decreased level of alpha-fetoprotein in fetus or neonate." "" "true" + "obsolete hereditary persistence of alpha-fetoprotein" "Hereditary persistence of alpha-fetoprotein is a benign genetic condition characterized by persistence of high alpha-fetoprotein (AFP) levels throughout life, with no associated clinical disability and thus no need for specific therapy" "" "true" + "nanophthalmos 4" "Any nanophthalmia in which the cause of the disease is a mutation in the TMEM98 gene." "" + "cone-rod dystrophy 20" "Any cone-rod dystrophy in which the cause of the disease is a mutation in the POC1B gene." "" + "autosomal recessive nonsyndromic hearing loss 102" "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the EPS8 gene." "" + "autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency" "A genetic variant of Mendelian susceptibility to mycobacterial disease characterized by a partial deficiency leading to impaired IFN-gamma immunity and, consequently, recurrent, moderately severe infections with bacillus Calmette-Guerin (BCG) and other environmental mycobacteria (EM)." "" + "intellectual disability, autosomal recessive 45" "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the FBXO31 gene." "" + "LIPE-related familial partial lipodystrophy" "" + "Bardet-Biedl syndrome 2" "Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBS2 gene." "" + "retinitis pigmentosa 74" "Any retinitis pigmentosa in which the cause of the disease is a mutation in the BBS2 gene." "" + "Bardet-Biedl syndrome 4" "" + "Bardet-Biedl syndrome 5" "Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBS5 gene." "" + "Bardet-Biedl syndrome 7" "Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBS7 gene." "" + "Bardet-Biedl syndrome 8" "Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the TTC8 gene." "" + "Bardet-Biedl syndrome 9" "Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBS9 gene." "" + "Bardet-Biedl syndrome 10" "Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBS10 gene." "" + "Bardet-Biedl syndrome 11" "Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the TRIM32 gene." "" + "Bardet-Biedl syndrome 12" "Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBS12 gene." "" + "Bardet-Biedl syndrome 13" "Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the MKS1 gene." "" + "Bardet-Biedl syndrome 14" "A Bardet-Biedl syndrome that has material basis in homozygous mutation in the CEP290 gene on chromosome 12q21." "" + "Bardet-Biedl syndrome 15" "Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the WDPCP gene." "" + "Bardet-Biedl syndrome 16" "Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the SDCCAG8 gene." "" + "Bardet-Biedl syndrome 17" "Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the LZTFL1 gene." "" + "Bardet-Biedl syndrome 18" "Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBIP1 gene." "" + "Bardet-Biedl syndrome 19" "Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the IFT27 gene." "" + "hyperthyroxinemia, familial dysalbuminemic" "An inherited autosomal dominant trait characterized by abnormally elevated levels of total serum thyroxine; (T4) in euthyroid patients with abnormal serum albumin that binds T4 with enhanced affinity. The serum levels of free T4, free T3, and tsh are normal. It is one of several T4 abnormalities produced by non-thyroid disorder. This condition is due to mutations of the alb gene on chromosome 4." "" + "congenital analbuminemia" "Congenital analbuminemia (CAA) is characterized by the absence or dramatic reduction of circulating human serum albumin (HSA)." "" + "breasts and/or nipples, aplasia or hypoplasia of, 2" "Any isolated congenital breast hypoplasia/aplasia in which the cause of the disease is a mutation in the PTPRF gene." "" + "focal segmental glomerulosclerosis 7" "Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the PAX2 gene." "" + "congenital fibrinogen deficiency" "Congenital deficiencies of fibrinogen are coagulation disorders characterized by bleeding symptoms ranging from mild to severe resulting from reduced quantity and/or quality of circulating fibrinogen. Afibrinogenemia (complete absence of fibrinogen) and hypofibrinogenemia (reduced plasma fibrinogen concentration) correspond to quantitative anomalies of fibrinogen while dysfibrinogenemia corresponds to a functional anomaly of fibrinogen. Hypo- and dysfibrinogenemia may be frequently combined (hypodysfibrinogenemia)." "" + "immunodeficiency 36" "" + "Hennekam lymphangiectasia-lymphedema syndrome 2" "Any Hennekam syndrome in which the cause of the disease is a mutation in the FAT4 gene." "" + "cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome" "" + "genetic endocrine growth disease" "" + "autosomal recessive severe congenital neutropenia due to JAGN1 deficiency" "" + "hyperphosphatasia with intellectual disability syndrome 5" "Any hyperphosphatasia-intellectual disability syndrome in which the cause of the disease is a mutation in the PIGW gene." "" + "Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young" "Any Fanconi syndrome in which the cause of the disease is a mutation in the HNF4A gene." "" + "Adams-Oliver syndrome 5" "Any Adams-Oliver syndrome in which the cause of the disease is a mutation in the NOTCH1 gene." "" + "nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome" "Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome is a rare genetic ectodermal dysplasia syndrome characterized by short stature, nail dystrophy and/or nail loss, oral mucosa and/or tongue hyperpigmentation, dentition abnormalities (delayed teeth eruption, hypodontia, enamel hypoplasia), keratoderma on the margins of the palms and soles and focal hyperkeratosis on the dorsum of the hands and feet. Additionally, dysphagia with esophageal strictures, sensorineural deafness, bronchial asthma and severe iron-deficiency anemia have been observed." "" + "focal segmental glomerulosclerosis 8" "Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the ANLN gene." "" + "obsolete microcephaly, short stature, and impaired glucose metabolism" "" "true" + "progressive encephalopathy with leukodystrophy due to DECR deficiency" "Progressive encephalopathy with leukodystrophy due to DECR deficiency is a rare mitochondrial disease, which presents with neonatal hypotonia, central nervous system abnormalities (ventriculomegaly, corpus callosum hypoplasia, cerebellar atrophy), acquired microcephaly, failure to thrive, developmental delay and intermittent lactic acidosis provoked by catabolic stress (e.g. infection). Hyperlysinemia and elevated C10:2 carnitine can be detected in plasma. Later on, epilepsy, cerebellar ataxia, renal tubular acidosis, severe encephalopathy, dystonia, spastic quadriplegia and other complications may develop." "" + "primary ciliary dyskinesia 30" "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CCDC151 gene." "" + "Neu-Laxova syndrome 2" "Any Neu-Laxova syndrome in which the cause of the disease is a mutation in the PSAT1 gene." "" + "Charcot-Marie-Tooth disease recessive intermediate D" "Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the COX6A1 gene." "" + "congenital myasthenic syndrome 7" "Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the SYT2 gene." "" + "autosomal recessive nonsyndromic hearing loss 103" "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the CLIC5 gene." "" + "autosomal dominant nonsyndromic hearing loss 65" "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the TBC1D24 gene." "" + "periodic fever-infantile enterocolitis-autoinflammatory syndrome" "" + "microcephaly 13, primary, autosomal recessive" "Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CENPE gene." "" + "autosomal recessive limb-girdle muscular dystrophy type 2U" "Any autosomal recessive limb-girdle muscular dystrophy in which the cause of the disease is a mutation in the ISPD gene." "" + "qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan" "" + "spinocerebellar ataxia type 40" "Spinocerebellar ataxia type 40 (SCA40) is a very rare subtype of autosomal dominant cerebellar ataxia type 1, characterized by the adult-onset of unsteady gait and dysarthria, followed by wide-based gait, gait ataxia, ocular dysmetria, intention tremor, scanning speech, hyperreflexia and dysdiadochokinesis." "" + "episodic ataxia type 8" "" + "developmental and epileptic encephalopathy, 26" "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the KCNB1 gene." "" + "mirror movements 3" "Any familial congenital mirror movements in which the cause of the disease is a mutation in the DNAL4 gene." "" + "porokeratosis 8, disseminated superficial actinic type" "" + "46,XY sex reversal 9" "" + "inflammatory skin and bowel disease, neonatal, 2" "Any neonatal inflammatory skin and bowel disease in which the cause of the disease is a mutation in the EGFR gene." "" + "intellectual disability, autosomal dominant 29" "Any intellectual disability-expressive aphasia-facial dysmorphism syndrome in which the cause of the disease is a mutation in the SETBP1 gene." "" + "intellectual disability-expressive aphasia-facial dysmorphism syndrome" "" + "retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies" "" + "microcephaly 12, primary, autosomal recessive" "Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CDK6 gene." "" + "pontocerebellar hypoplasia, type 1C" "Any pontocerebellar hypoplasia type 1 in which the cause of the disease is a mutation in the EXOSC8 gene." "" + "intellectual disability, autosomal dominant 30" "Any intellectual disability-expressive aphasia-facial dysmorphism syndrome in which the cause of the disease is a mutation in the ZMYND11 gene." "" + "congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome" "Congenital sideroblastic anemia -B cell immunodeficiency- periodic fever-developmental delay syndrome is a form of constitutional sideroblastic anemia, characterized by severe microcytic anemia, B-cell lymphopenia, panhypogammaglobulinemia and variable neurodegeneration. The disease presents in infancy with recurrent febrile illnesses, gastrointestinal disturbances, developmental delay, seizures, ataxia and sensorineural deafness. Most patients require regular blood transfusion, iron chelation, and intravenous immunoglobulin (IVIG) replacement. Stem cell transplantation has been reported to be successful." "" + "diabetes mellitus, noninsulin-dependent, 5" "Any type 2 diabetes mellitus in which the cause of the disease is a mutation in the TBC1D4 gene." "" + "limb-girdle muscular dystrophy due to POMK deficiency" "Limb-girdle muscular dystrophy due to POMK deficiency is a form of limb-girdle muscular dystrophy presenting in infancy with muscle weakness and delayed motor development (eventually learning to walk at 18 months of age) followed by progressive proximal weakness, pseudohypertrophy of calf muscles, mild facial weakness, and borderline intelligence." "" + "ketoacidosis due to monocarboxylate transporter-1 deficiency" "" + "disorder of ketone body transport" "" + "immunodeficiency 37" "Any primary immunodeficiency disease in which the cause of the disease is a mutation in the BCL10 gene." "" + "woolly hair-palmoplantar keratoderma syndrome" "Woolly hair-palmoplantar keratoderma syndrome is a very rare, hereditary epidermal disorder characterized by hypotrichosis/woolly scalp hair, sparse body hair, eyelashes and eyebrows, leukonychia, and striate palmoplantar keratoderma (more severe on the soles than the palms), which progressively worsens with age. Pseudo ainhum of the fifth toes was also reported. Although woolly hair-palmoplantar keratoderma syndrome shares clinical similarities with both Naxos disease and Carvajal syndrome, cardiomyopathy is notably absent." "" + "autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency" "A somatic mutation in the CTLA4 gene resulting in only a single functional gene. Haploinsufficiency for CTLA4 is associated with autoimmune lymphoproliferative syndrome, type V." "" + "psoriasis 15, pustular, susceptibility to" "Any generalized pustular psoriasis in which the cause of the disease is a mutation in the AP1S3 gene." "" + "retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome" "" + "mitochondrial complex III deficiency nuclear type 9" "Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the UQCC3 gene." "" + "polyendocrine-polyneuropathy syndrome" "" + "familial cold autoinflammatory syndrome 4" "Any familial cold autoinflammatory syndrome in which the cause of the disease is a mutation in the NLRC4 gene." "" + "intellectual disability, autosomal recessive 46" "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the NDST1 gene." "" + "atrial conduction disease" "Atrial conduction disorder is a form of heart disease in which the conduction of the cardiac atrium is disrupted." "" + "macular degeneration, early-onset" "" + "mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency" "Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete ISG15 deficiency is a genetic variant of MSMD characterized by Bacille Calmette-GuC)rin (BCG) infections." "" + "autosomal recessive spinocerebellar ataxia 17" "Any autosomal recessive congenital cerebellar ataxia in which the cause of the disease is a mutation in the CWF19L1 gene." "" + "Perrault syndrome 5" "Any Perrault syndrome in which the cause of the disease is a mutation in the TWNK gene." "" + "developmental and epileptic encephalopathy, 27" "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GRIN2B gene." "" + "hypomyelinating leukodystrophy 9" "Any leukodystrophy in which the cause of the disease is a mutation in the RARS gene." "" + "Catel-Manzke syndrome" "Catel-Manzke syndrome is a rare bone disease characterized by bilateral hyperphalangy and clinodactyly of the index finger typically in association with Pierre Robin sequence comprising micrognathia, cleft palate and glossoptosis." "" + "vitelliform macular dystrophy 4" "Any vitelliform macular dystrophy in which the cause of the disease is a mutation in the IMPG1 gene." "" + "vitelliform macular dystrophy 5" "Any vitelliform macular dystrophy in which the cause of the disease is a mutation in the IMPG2 gene." "" + "fatty acyl-CoA reductase 1 deficiency" "" + "fatty acyl-CoA reductase defects" "Any disorder of plasmalogen biosynthesis in which the cause of the disease is a mutation in the FAR1 gene." "" + "Charcot-Marie-Tooth disease axonal type 2S" "Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the IGHMBP2 gene." "" + "PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation" "PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation is a rare, genetic neurological disease, with a highly variable phenotype, typically characterized by neonatal hypotonia, respiratory and feeding difficulties, global development delay (often with nonverbal and frequently non-ambulatory progression) and myopathic facies. Other frequently present features include seizures (or seizure-like episodes), visual impairment and encephalopathy." "" + "PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome" "" + "nemaline myopathy 10" "Any nemaline myopathy in which the cause of the disease is a mutation in the LMOD3 gene." "" + "aortic aneurysm, familial thoracic 9" "Any familial thoracic aortic aneurysm and aortic dissection in which the cause of the disease is a mutation in the MFAP5 gene." "" + "macular dystrophy with central cone involvement" "" + "microcephaly and chorioretinopathy 2" "Any microcephaly and chorioretinopathy in which the cause of the disease is a mutation in the PLK4 gene." "" + "generalized epilepsy with febrile seizures plus, type 9" "Any generalized epilepsy with febrile seizures plus in which the cause of the disease is a mutation in the STX1B gene." "" + "platelet-type bleeding disorder 19" "Any isolated hereditary giant platelet disorder in which the cause of the disease is a mutation in the PRKACG gene." "" + "chronic mountain sickness, susceptibility to" "" + "46,XX ovarian dysgenesis-short stature syndrome" "" + "progressive myoclonic epilepsy type 7" "Any progressive myoclonic epilepsy in which the cause of the disease is a mutation in the KCNC1 gene." "" + "retinal dystrophy and obesity" "" + "juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome" "" + "intellectual disability, autosomal recessive 47" "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the FMN2 gene." "" + "combined oxidative phosphorylation defect type 23" "Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the GTPBP3 gene." "" + "polyglucosan body myopathy type 2" "Any polyglucosan body myopathy in which the cause of the disease is a mutation in the GYG1 gene." "" + "progeroid features-hepatocellular carcinoma predisposition syndrome" "" + "chronic atrial and intestinal dysrhythmia" "A syndrome characterized by a unique combination of cardiac arrhythmias and intestinal pseudo-obstruction. It has material basis in the mutated SGOL1 protein. Distinctive clinical features include atrial dysrhythmias, sick sinus syndrome (SSS) and valve anomalies and chronic intestinal pseudo-obstruction (CIPO)." "" + "cerebellar-facial-dental syndrome" "" + "autosomal recessive spinocerebellar ataxia 18" "Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency is a rare, genetic, slowly progressive neurodegenerative disease resulting from GRID2 deficiency characterized by motor, speech and cognitive delay, hypotonia, truncal and appendicular ataxia, and eye movement abnormalities (tonic upgaze, nystagmus, oculomotor apraxia). Intention tremor may also be associated. Brain imaging reveals progressive cerebellar atrophy with cerebellar flocculus particularly affected." "" + "amyotrophic lateral sclerosis type 22" "Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the TUBA4A gene." "" + "autosomal dominant mitochondrial myopathy with exercise intolerance" "" + "developmental and epileptic encephalopathy, 28" "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the WWOX gene." "" + "lissencephaly 6 with microcephaly" "Any microlissencephaly in which the cause of the disease is a mutation in the KATNB1 gene." "" + "hyperproinsulinemia" "" + "thrombocytopenia 5" "Any thrombocytopenia in which the cause of the disease is a mutation in the ETV6 gene." "" + "nephronophthisis 19" "Any nephronophthisis in which the cause of the disease is a mutation in the DCDC2 gene." "" + "fibrosis of extraocular muscles, congenital, 5" "Any congenital fibrosis of extraocular muscles in which the cause of the disease is a mutation in the COL25A1 gene." "" + "focal segmental glomerulosclerosis 9" "Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the CRB2 gene." "" + "amelogenesis imperfecta type 1H" "Any amelogenesis imperfecta in which the cause of the disease is a mutation in the ITGB6 gene." "" + "motor developmental delay due to 14q32.2 paternally expressed gene defect" "A cause of obesity that results from inheritance of two copies of chromosome 14 from the mother, and no copy of chromosome 14 from the father." "" + "congenital myasthenic syndrome 15" "Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the ALG14 gene." "" + "congenital myasthenic syndrome 14" "Any congenital myasthenic syndromes with glycosylation defect in which the cause of the disease is a mutation in the ALG2 gene." "" + "osteogenesis imperfecta type 16" "An osteogenesis imperfecta that has material basis in contiguous gene deletion on chromosome 11p11." "" + "progressive myoclonic epilepsy type 8" "Any progressive myoclonic epilepsy in which the cause of the disease is a mutation in the CERS1 gene." "" + "myopathy due to calsequestrin and SERCA1 protein overload" "Myopathy due to calsequestrin and SERCA1 protein overload is characterised by mild myopathy or elevated levels of creatine kinase in the blood without associated symptoms." "" + "combined oxidative phosphorylation defect type 24" "Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the NARS2 gene." "" + "long QT syndrome 14" "Any long QT syndrome in which the cause of the disease is a mutation in the CALM1 gene." "" + "lethal congenital contracture syndrome 6" "Any lethal congenital contracture syndrome in which the cause of the disease is a mutation in the ZBTB42 gene." "" + "long QT syndrome 15" "Any long QT syndrome in which the cause of the disease is a mutation in the CALM2 gene." "" + "short stature with nonspecific skeletal abnormalities" "" + "lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome" "Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome is a rare, genetic developmental defect during embryogenesis malformation syndrome characterized by intrauterine growth restriction, flexion arthrogryposis of all joints, severe microcephaly, renal cystic dysplasia/agenesis/hypoplasia and complex malformations of the brain (cerebral and cerebellar hypoplasia, vermis, corpus callosum and/or occipital lobe agenesis, with or without arhinencephaly), as well as of the genitourinary tract (ureteral agenesis/hypoplasia, uterine hypoplasia and/or vaginal atresia), leading to fetal demise." "" + "Tenorio syndrome" "" + "obsolete infantile multisystem neurologic-endocrine-pancreatic disease" "" "true" + "peeling skin syndrome type A" "Peeling skin syndrome (PSS) type A is a non inflammatory form of generalized PSS, a type of ichthyosis, characterized by generalized white scaling and superficial painless peeling of the skin." "" + "congenital contractures of the limbs and face, hypotonia, and developmental delay" "" + "ataxia - oculomotor apraxia type 4" "Any oculomotor apraxia or related oculomotor disease in which the cause of the disease is a mutation in the PNKP gene." "" + "autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome" "" + "progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome" "" + "amelogenesis imperfecta type 1F" "Any amelogenesis imperfecta in which the cause of the disease is a mutation in the AMBN gene." "" + "3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia" "Any 3-methylglutaconic aciduria in which the cause of the disease is a mutation in the CLPB gene." "" + "neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome" "" + "mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency" "" + "Leigh syndrome with leukodystrophy" "" + "congenital bile acid synthesis defect 5" "Any congenital bile acid synthesis defect in which the cause of the disease is a mutation in the ABCD3 gene." "" + "disorder of peroxisomal transporter" "Any peroxisomal single enzyme/protein defect that disrupts peroxisomal transport." "" + "cataract 43" "Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the UNC45B gene." "" + "Charcot-Marie-Tooth disease axonal type 2U" "Autosomal dominant Charcot-Marie-Tooth disease type 2U (CMT2U) is a subtype of autosonal dominant Charcot-Marie-Tooth disease type 2 characterized by late adult-onset (50-60 years of age) of slowly progressive, axonal, peripheral sensorimotor neuropathy resulting in distal upper limb and proximal and distal lower limb muscle weakness and atrophy, in conjunction with distal, panmodal sensory impairment in upper and lower limbs. Tendon reflexes are reduced and nerve conduction velocities range from reduced to absent. Neuropathic pain has also been associated." "" + "glutamate pyruvate transaminase 2 deficiency" "" + "hereditary spastic paraplegia 73" "Autosomal dominant spastic paraplegia type 73 (SPG73) is a pure form of hereditary spastic paraplegia characterized by adult onset of crural spastic paraparesis, hyperreflexia, extensor plantar responses, proximal muscle weakness, mild muscle atrophy, decreased vibration sensation at ankles, and mild urinary dysfunction. foot deformities have been reported to eventually occur in some patients. No abnormalities are noted on brain magnetic resonance imaging and peripheral nerve conduction velocity studies." "" + "lethal congenital contracture syndrome 7" "Any lethal congenital contracture syndrome in which the cause of the disease is a mutation in the CNTNAP1 gene." "" + "hypomyelination neuropathy-arthrogryposis syndrome" "Hypomyelination neuropathy-arthrogryposis syndrome is a rare, genetic, limb malformation syndrome characterized by multiple congenital distal joint contractures (incl. talipes equinovarus and both proximal and distal interphalangeal joint contractures of the hands) and very severe motor paralysis at birth (i.e. lack of swallowing, autonomous respiratory function and deep tendon reflexes), leading to death within first 3 months of life. Fetal hypo- or akinesia, late-onset polyhydramnios and dramatically reduced, or absent, motor nerve conduction velocities (<10 m/s) are frequently associated. Nerve ultrastructural morphology shows severe abnormalities of the nodes of Ranvier and myelinated axons." "" + "lethal congenital contracture syndrome 8" "Any lethal congenital contracture syndrome in which the cause of the disease is a mutation in the ADCY6 gene." "" + "optic atrophy 9" "" + "Lichtenstein-Knorr syndrome" "" + "Cole-Carpenter syndrome 2" "Any Cole-Carpenter syndrome in which the cause of the disease is a mutation in the SEC24D gene." "" + "peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome" "" + "Singleton-Merten syndrome 2" "Any singleton-Merten dysplasia in which the cause of the disease is a mutation in the DDX58 gene." "" + "lipoyl transferase 1 deficiency" "" + "short-rib thoracic dysplasia 13 with or without polydactyly" "An asphyxiating thoracic dystrophy that has material basis in homozygous mutation in the CEP120 gene on chromosome 5q23." "" + "congenital myasthenic syndrome 17" "Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the LRP4 gene." "" + "Senior-Loken syndrome 8" "Any Senior-Loken syndrome in which the cause of the disease is a mutation in the WDR19 gene." "" + "intellectual disability, autosomal dominant 33" "Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the DPP6 gene." "" + "congenital myasthenic syndrome 2A" "A congenital myasthenic syndrome characterized by autosomal dominant inheritance of postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and prolonged opening and activity of the acetylcholine receptor channel that has material basis in heterozygous mutation in the CHRNB1 gene on chromosome 17p13." "" + "congenital myasthenic syndrome 2C" "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset muscle weakness, and low amplitude of the miniature endplate potential and current that has material basis in ompound heterozygous mutation in the CHRNB1 gene on chromosome 17p13." "" + "congenital myasthenic syndrome 3A" "A congenital myasthenic syndrome characterized by autosomal dominant inheritance of postsynaptic neuromuscular junction defects resulting in prolonged synaptic currents and early-onset progressive muscle weakness that has material basis in heterozygous mutation in the CHRND gene on chromosome 2q37." "" + "congenital myasthenic syndrome 3B" "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects resulting in rapid decay in endplate current and a failure to reach the threshold for depolarization and early onset progressive muscular weakness that has material basis in homozygous or compound heterozygous mutation in the CHRND gene on chromosome 2q37." "" + "congenital myasthenic syndrome 3C" "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, low amplitude of the miniature endplate potential and current, and early-onset muscle weakness that has material basis in compound heterozygous mutation in the CHRND gene on chromosome 2q37." "" + "congenital myasthenic syndrome 4B" "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and kinetic abnormalities of the AChR channel that has material basis in homozygous or compound heterozygous mutation in the CHRNE gene on chromosome 17p13." "" + "congenital myasthenic syndrome 9" "Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the MUSK gene." "" + "congenital myasthenic syndrome 11" "Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the RAPSN gene." "" + "maturity-onset diabetes of the young type 13" "Any maturity-onset diabetes of the young in which the cause of the disease is a mutation in the KCNJ11 gene." "" + "congenital myasthenic syndrome 18" "Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the SNAP25 gene." "" + "autosomal dominant Robinow syndrome 2" "Any autosomal dominant Robinow syndrome in which the cause of the disease is a mutation in the DVL1 gene." "" + "microcephaly and chorioretinopathy 3" "Any microcephaly and chorioretinopathy in which the cause of the disease is a mutation in the TUBGCP4 gene." "" + "developmental and epileptic encephalopathy, 29" "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the AARS gene." "" + "autosomal dominant nonsyndromic hearing loss 67" "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the OSBPL2 gene." "" + "developmental and epileptic encephalopathy, 30" "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SIK1 gene." "" + "lissencephaly 7 with cerebellar hypoplasia" "" + "immunodeficiency 39" "Any primary immunodeficiency disease in which the cause of the disease is a mutation in the IRF7 gene." "" + "developmental and epileptic encephalopathy, 31" "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the DNM1 gene." "" + "intellectual disability, autosomal dominant 34" "Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the COL4A3BP gene." "" + "dyskeratosis congenita, autosomal recessive 6" "Any dyskeratosis congenita in which the cause of the disease is a mutation in the PARN gene." "" + "autosomal recessive spinocerebellar ataxia 20" "Any autosomal recessive cerebellar ataxia in which the cause of the disease is a mutation in the SNX14 gene." "" + "intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome" "An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of PPP2R5D on chromosome 6p21.1." "" + "autosomal dominant nonsyndromic hearing loss 40" "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the CRYM gene." "" + "Parkinson disease 21" "Any hereditary late onset Parkinson disease in which the cause of the disease is a mutation in the DNAJC13 gene." "" + "microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome" "" + "intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome" "Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome is a rare, genetic, syndromic intellecutal disability disorder characterized by craniofacial dysmorphism (microcephaly, hypotonic facies, strabismus, long and flat malar region, posteriorly rotated ears, flat nasal bridge with broad nasal tip, short philtrum, thin vermillion border, open mouth with down-turned corners, high arched palate, pointed chin), global developmental delay, intellectual disability and variable neurobehavioral abnormalities (autism spectrum disorder, aggressivness, self injury). Additional features include vision abnormalities and variable sensorineural hearing loss, as well as short stature, hypotonia and gastrointestinal manifestations (e.g. poor feeding, gastroesophageal reflux, constipation)." "" + "developmental and epileptic encephalopathy, 32" "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the KCNA2 gene." "" + "mandibulofacial dysostosis with alopecia" "A syndrome characterized by malar and mandibular hypoplasia, typically associated with abnormalities of the ears and eyelids, and with alopecia." "" + "cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome" "" + "obsolete ciliary dyskinesia, primary, 31" "" "true" + "multiple mitochondrial dysfunctions syndrome 4" "Any fatal multiple mitochondrial dysfunctions syndrome in which the cause of the disease is a mutation in the ISCA2 gene." "" + "pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4" "Any pulmonary fibrosis and/or bone marrow failure, Telomere-related in which the cause of the disease is a mutation in the PARN gene." "" + "pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3" "Any pulmonary fibrosis and/or bone marrow failure, Telomere-related in which the cause of the disease is a mutation in the RTEL1 gene." "" + "congenital stationary night blindness 1G" "A congenital stationary night blindness characterized by autosomal recessive inheritance that has material basis in homozygous mutation in the GNAT1 gene on chromosome 3p21." "" + "trichothiodystrophy 2, photosensitive" "" + "Skint1-like pseudogene" "" + "intellectual disability, autosomal dominant 38" "Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the EEF1A2 gene." "" + "retinitis pigmentosa 71" "Any retinitis pigmentosa in which the cause of the disease is a mutation in the IFT172 gene." "" + "trichothiodystrophy 3, photosensitive" "" + "myoclonic dystonia 26" "Any myoclonus-dystonia syndrome in which the cause of the disease is a mutation in the KCTD17 gene." "" + "Brugada syndrome 9" "Any Brugada syndrome in which the cause of the disease is a mutation in the KCND3 gene." "" + "isolated focal non-epidermolytic palmoplantar keratoderma" "" + "microcephaly 14, primary, autosomal recessive" "Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the SASS6 gene." "" + "Brown syndrome" "Brown syndrome is a rare eye disorder characterized by defects in eye movements caused by abnormalities of the superior oblique tendon sheath of the superior oblique muscle." "" + "developmental and epileptic encephalopathy, 33" "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the EEF1A2 gene." "" + "spinocerebellar ataxia type 41" "Spinocerebellar ataxia type 41 is a rare autosomal dominant cerebellar ataxia type III disorder characterized by adult-onset progressive imbalance and loss of coordination associated with an ataxic gait. Mild atrophy of the cerebellar vermis has been reported on brain magnetic resonance imaging." "" + "dystonia 27" "Any dystonic disorder in which the cause of the disease is a mutation in the COL6A3 gene." "" + "basal ganglia calcification, idiopathic, 6" "Any bilateral striopallidodentate calcinosis in which the cause of the disease is a mutation in the XPR1 gene." "" + "autoimmune interstitial lung disease-arthritis syndrome" "A respiratory disease characterized by interstitial lung disease (often with pulmonary hemorrhage) and inflammatory arthritis, associated with high-titer autoantibodies (including anti-nuclear and anti-neutrophil cytoplasmic antibodies, and rheumatoid factor). Patients present from infancy to adolescence with tachypnea, cough, hemoptysis, and/or joint pain. Some patients may also develop glomerular disease." "" + "secondary interstitial lung disease specific to childhood associated with a systemic disease" "True" + "NTHL1-related attenuated familial adenomatous polyposis" "" + "hypomagnesemia, seizures, and intellectual disability" "" + "hypomyelinating leukodystrophy 10" "Any leukodystrophy in which the cause of the disease is a mutation in the PYCR2 gene." "" + "myoclonic-atonic epilepsy" "" + "46,XY sex reversal 10" "" + "microphthalmia, isolated, with coloboma 10" "Any microphthalmia, isolated, with coloboma in which the cause of the disease is a mutation in the RBP4 gene." "" + "combined oxidative phosphorylation defect type 25" "Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the MARS2 gene." "" + "DOCK2 deficiency" "" + "Fanconi anemia complementation group T" "Any Fanconi anemia in which the cause of the disease is a mutation in the UBE2T gene." "" + "familial temporal lobe epilepsy 7" "A temporal lobe epilepsy characterized by autosomal dominant inheritance of focal seizures with prominent auditory symptoms and that has material basis in heterozygous mutation in the RELN gene on chromosome 7q22." "" + "frontotemporal dementia and/or amyotrophic lateral sclerosis 3" "An amyotrophic lateral sclerosis that has material basis in mutation in the SQSTM1 gene on chromosome 5q35." "" + "frontotemporal dementia and/or amyotrophic lateral sclerosis 4" "An amyotrophic lateral sclerosis that has material basis in mutation in the TBK1 gene on chromosome 12q14." "" + "candidiasis, familial, 9" "Any chronic mucocutaneous candidiasis in which the cause of the disease is a mutation in the IL17RC gene." "" + "congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome" "" + "hereditary spastic paraplegia 74" "Autosomal recessive spastic paraplegia type 74 is a rare, genetic, spastic paraplegia-optic atrophy-neuropathy-related (SPOAN-like) disorder characterized by childhood onset of mild to moderate spastic paraparesis which manifests with gait impairment that very slowly progresses into late adulthood, hyperactive patellar reflex and bilateral extensor plantar response, in association with optic atrophy and typical symptoms of peripheral neuropathy, including reduced or absent ankle reflexes, lower limb atrophy and distal sensory impairment. Reduced visual acuity and pes cavus are frequently reported." "" + "BENTA disease" "BENTA disease (B cell Expansion with N F-N:B and T cell Anergy) is a very rare congenital immune deficiency disorder. The main symptoms include spleen enlargement (splenomegalia) and frequent ear, sinus, and lung infections early in life. Some patients can present with molluscum contagiosum or chronic Epstein-Barr virus (EBV) infection. Blood exams show alterations of several immune cells with very high numbers of polyclonal B cell lymphocytos (above 2200/N "Zimmermann-Laband syndrome 2" "Any Zimmermann-Laband syndrome in which the cause of the disease is a mutation in the ATP6V1B2 gene." "" + "developmental and epileptic encephalopathy, 50" "" + "Al-Raqad syndrome" "" + "intellectual disability, autosomal recessive 50" "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the EDC3 gene." "" + "familial temporal lobe epilepsy 8" "A temporal lobe epilepsy characterized by autosomal dominant inheritance of complex partial seizures with occasional secondary generalization and that has material basis in heterozygous mutation in the GAL gene on chromosome 11q13." "" + "acrofacial dysostosis Cincinnati type" "Any acrofacial dysostosis in which the cause of the disease is a mutation in the POLR1A gene." "" + "exudative vitreoretinopathy 6" "Any exudative vitreoretinopathy in which the cause of the disease is a mutation in the ZNF408 gene." "" + "retinitis pigmentosa 72" "Any retinitis pigmentosa in which the cause of the disease is a mutation in the ZNF408 gene." "" + "Ullrich congenital muscular dystrophy 2" "Any Ullrich congenital muscular dystrophy in which the cause of the disease is a mutation in the COL12A1 gene." "" + "obsolete Bethlem myopathy 2" "" "true" + "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2" "Any progressive external ophthalmoplegia with mitochondrial DNA deletions in which the cause of the disease is a mutation in the RNASEH1 gene." "" + "adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy" "Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy is a rare mitochondrial disease characterized by adult onset of progressive external ophthalmoplegia, exercise intolerance, muscle weakness, manifestations of spinocerebellar ataxia (e.g. impaired gait, dysarthria) and mild motor peripheral neuropathy. Respiratory insufficiency has been reported in some cases." "" + "primary ciliary dyskinesia 32" "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the RSPH3 gene." "" + "infantile liver failure syndrome 2" "Any infantile liver failure in which the cause of the disease is a mutation in the NBAS gene." "" + "microcephaly 15, primary, autosomal recessive" "" + "epidermolysis bullosa simplex with nail dystrophy" "" + "congenital insensitivity to pain-hypohidrosis syndrome" "A hereditary sensory neuropathy characterized by congenital insensitivity to pain and decreased sweating and tear production that has material basis in homozygous mutation in the PRDM12 gene on chromosome 9q34." "" + "Silver-Russell syndrome 3" "" + "Joubert syndrome 23" "Any Joubert syndrome in which the cause of the disease is a mutation in the KIAA0586 gene." "" + "Charcot-Marie-Tooth disease axonal type 2V" "Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the NAGLU gene." "" + "hypomyelinating leukodystrophy 11" "Any leukodystrophy in which the cause of the disease is a mutation in the POLR1C gene." "" + "cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3" "Any fatal infantile encephalocardiomyopathy in which the cause of the disease is a mutation in the COA5 gene." "" + "cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4" "Any fatal infantile encephalocardiomyopathy in which the cause of the disease is a mutation in the COA6 gene." "" + "cone-rod dystrophy 21" "Any cone-rod dystrophy in which the cause of the disease is a mutation in the DRAM2 gene." "" + "lethal congenital contracture syndrome 9" "Any lethal congenital contracture syndrome in which the cause of the disease is a mutation in the ADGRG6 gene." "" + "neuropathy, hereditary motor and sensory, type 6B" "Any hereditary motor and sensory neuropathy type 6 in which the cause of the disease is a mutation in the SLC25A46 gene." "" + "osteogenesis imperfecta type 17" "Any osteogenesis imperfecta in which the cause of the disease is a mutation in the SPARC gene." "" + "cataract 44" "Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the LSS gene." "" + "maturity-onset diabetes of the young type 14" "Any maturity-onset diabetes of the young in which the cause of the disease is a mutation in the APPL1 gene." "" + "autosomal recessive nonsyndromic hearing loss 104" "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the RIPOR2 gene." "" + "Emery-Dreifuss muscular dystrophy 3, autosomal recessive" "Any autosomal recessive Emery-Dreifuss muscular dystrophy in which the cause of the disease is a mutation in the LMNA gene." "" + "achromatopsia 7" "Any achromatopsia in which the cause of the disease is a mutation in the ATF6 gene." "" + "ATF6-related retinopathy" "A retinopathy caused by biallelic variants in the AFT6 gene." "" + "intellectual disability, autosomal dominant 39" "Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the MYT1L gene." "" + "polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis" "" + "herpes simplex encephalitis, susceptibility to, 7" "Any herpes simplex encephalitis in which the cause of the disease is a mutation in the IRF3 gene." "" + "thyroid cancer, nonmedullary, 4" "Any thyroid cancer, nonmedullary in which the cause of the disease is a mutation in the FOXE1 gene." "" + "thyroid cancer, nonmedullary, 5" "Any thyroid cancer, nonmedullary in which the cause of the disease is a mutation in the HABP2 gene." "" + "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9" "" + "combined oxidative phosphorylation defect type 26" "Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the TRMT5 gene." "" + "progressive myoclonic epilepsy type 9" "Any progressive myoclonic epilepsy in which the cause of the disease is a mutation in the LMNB2 gene." "" + "short stature, microcephaly, and endocrine dysfunction" "" + "microcephalic primordial dwarfism-insulin resistance syndrome" "" + "retinitis pigmentosa 73" "Any retinitis pigmentosa in which the cause of the disease is a mutation in the HGSNAT gene." "" + "short-rib thoracic dysplasia 14 with polydactyly" "An asphyxiating thoracic dystrophy that has material basis in homozygous mutation in the KIAA0586 gene on chromosome 14q23." "" + "Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome" "" + "dyskeratosis congenita, autosomal dominant 6" "A dyskeratosis congenita that has material basis in an autosomal dominant mutation of ACD on chromosome 16q22.1." "" + "hereditary isolated aplastic anemia" "" + "Noonan syndrome 9" "Any Noonan syndrome in which the cause of the disease is a mutation in the SOS2 gene." "" + "Noonan syndrome 10" "Any Noonan syndrome in which the cause of the disease is a mutation in the LZTR1 gene." "" + "spondylocostal dysostosis 6, autosomal recessive" "Any autosomal recessive spondylocostal dysostosis in which the cause of the disease is a mutation in the RIPPLY2 gene." "" + "glioma susceptibility 9" "Any malignant glioma in which the cause of the disease is a mutation in the POT1 gene." "" + "cerebrooculofacioskeletal syndrome 3" "" + "immunodeficiency, common variable, 12" "Any common variable immunodeficiency in which the cause of the disease is a mutation in the NFKB1 gene." "" + "microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome" "" + "intellectual disability, autosomal dominant 40" "Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the CHAMP1 gene." "" + "neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to a point mutation" "" + "neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome" "" + "spondyloepiphyseal dysplasia, Stanescu type" "" + "autosomal recessive complex spastic paraplegia type 9B" "Any autosomal recessive complex spastic paraplegia in which the cause of the disease is a mutation in the ALDH18A1 gene." "" + "Adams-Oliver syndrome 6" "Any Adams-Oliver syndrome in which the cause of the disease is a mutation in the DLL4 gene." "" + "skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome" "" + "craniosynostosis 6" "Any craniosynostosis in which the cause of the disease is a mutation in the ZIC1 gene." "" + "cutis laxa, autosomal dominant 3" "An autosomal dominant cutis laxa characterized by thin skin with visible veins and wrinkles, cataract or corneal clouding, clenched fingers, pre- and postnatal growth retardation, moderate intellectual disability, and a combination of muscle hypotonia with brisk muscle reflexes that has material basis in heterozygous mutation in the ALDH18A1 gene on chromosome 10q24." "" + "14q32 duplication syndrome" "14q32 duplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 14 that results in a predisposition to a number of adult-onset myeloproliferative neoplasms, including acute myeloid leukemia, chronic myelomonocytic leukemia, and myeloproliferative neoplasms, especially essential thrombocythemia. Progression to myelofibrosis and secondary acute myeloid leukemia can be observed." "" + "partial duplication of the long arm of chromosome 14" "" + "ring chromosome 14" "Ring chromosome 14 syndrome is characterized by intellectual deficit, retinal and skin pigmentation disorders, seizures, and dysmorphic features, including flat occiput, epicanthal folds, downward slanting eyes, flat nasal bridge, upturned nostrils, short neck, and large low set ears." "" + "ring chromosome disorder" "Chromosomal anomaly consisting of the presence of a ring chromosome. A ring chromosome is a chromosome whose arms have fused together to form a ring, often with the loss of the ends of the chromosome." "" + "ring chromosome" "Aberrant chromosomes with no ends, i.e., circular." "True" + "obsolete Heimler syndrome 2" "" "true" + "autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency" "Any autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency in which the cause of the disease is a mutation in the RORC gene." "" + "autosomal dominant Charcot-Marie-Tooth disease type 2W" "Any Charcot-Marie-Tooth disease type 2 in which the cause of the disease is a mutation in the HARS gene." "" + "Senior-Loken syndrome 9" "Any Senior-Loken syndrome in which the cause of the disease is a mutation in the TRAF3IP1 gene." "" + "porokeratosis 9, multiple types" "Any porokeratosis (disease) in which the cause of the disease is a mutation in the FDPS gene." "" + "progressive microcephaly-seizures-cortical blindness-developmental delay syndrome" "Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome is a rare, genetic, neuro-ophthalmological syndrome characterized by post-natal, progressive microcephaly and early-onset seizures, associated with delayed global development, bilateral cortical visual impairment and moderate to severe intellectual disability. Additional manifestations include short stature, generalized hypotonia and pulmonary complications, such as recurrent respiratory infections and bronchiectasis. Auditory and metabolic screenings are normal." "" + "primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection" "Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection is a rare primary immunodeficiency due to a defect in innate immunity disorder characterized by selective susceptibility to viral infections, particularly after systemic challenge with live viral vaccines, such as the measles, mumps and rubella (MMR) vaccine. Patients present severe, potentially fatal, manifestations to viral illness, including encephalitis, hepatitis and pneumonitis." "" + "macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome" "" + "early-onset Lafora body disease" "Early-onset Lafora body disease is an extremely rare, inherited form of progressive myoclonic epilepsy characterized by progressive myoclonus epilepsy and Lafora bodies, with an early onset (at around 5 years) and a prolonged disease course. Other manifestations include progressive dysarthria, ataxia, cognitive decline, psychosis, dementia, spasticity, dysarthria, myoclonus, and ataxia. The disease course typically extends for several decades." "" + "developmental and epileptic encephalopathy, 34" "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SLC12A5 gene." "" + "developmental and epileptic encephalopathy, 35" "" + "obsolete hereditary spherocytosis type 2" "" "true" + "Roifman syndrome" "" + "PMP22-RAI1 contiguous gene duplication syndrome" "" + "Joubert syndrome 24" "Any Joubert syndrome in which the cause of the disease is a mutation in the TCTN2 gene." "" + "spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome" "" + "Charcot-Marie-Tooth disease axonal type 2X" "Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the SPG11 gene." "" + "immunodeficiency 45" "" + "combined oxidative phosphorylation defect type 27" "Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the CARS2 gene." "" + "hereditary spastic paraplegia 75" "Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the MAG gene." "" + "microcephaly 16, primary, autosomal recessive" "" + "seizures-scoliosis-macrocephaly syndrome" "Seizures-scoliosis-macrocephaly syndrome is a rare, genetic neurometabolic disorder characterized by seizures, macrocephaly, delayed motor milestones, moderate intellectual disability, scoliosis with no exostoses, muscular hypotonia present since birth, as well as renal dysfunction. Coarse facial features (including hypertelorism and long hypoplastic philtrum) and bilateral cryptorchidism (in males) are also commonly reported. Additional manifestations include abnormal gastrointestinal motility (resulting in constipation, diarrhea, gastroesophageal reflux and dysphagia), gait disturbances, strabismus and ventricular septal defects." "" + "hypomyelinating leukodystrophy 12" "Any leukodystrophy in which the cause of the disease is a mutation in the VPS11 gene." "" + "Charcot-Marie-Tooth disease type 4K" "SURF1-related Charcot-Marie-Tooth disease type 4 (CMT4K) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by childhood onset of severe, progressive, demyelinating sensorimotor neuropathy manifesting with distal muscle weakness and atrophy of hands and feet, distal sensory impairment (vibration and pinprick) of lower limbs, lactic acidosis, areflexia and severely reduced motor nerve conduction velocities (25 m/s or less). Patients may also present kyphoscoliosis, nystagmus, hearing loss, cerebellar ataxia and/or brain MRI abnormalities (putaminal and periaqueductal lesions)." "" + "epilepsy, idiopathic generalized, susceptibility to, 14" "" + "Charcot-Marie-Tooth disease type 2Y" "Any Charcot-Marie-Tooth disease type 2 in which the cause of the disease is a mutation in the VCP gene." "" + "Charcot-Marie-Tooth disease axonal type 2Z" "Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the MORC2 gene." "" + "dehydrated hereditary stomatocytosis 2" "Any dehydrated hereditary stomatocytosis in which the cause of the disease is a mutation in the KCNN4 gene." "" + "autosomal dominant nonsyndromic hearing loss 69" "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the KITLG gene." "" + "autosomal recessive nonsyndromic hearing loss 97" "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the MET gene." "" + "autosomal dominant nonsyndromic hearing loss 68" "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the HOMER2 gene." "" + "facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation" "" + "WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome" "" + "Parkinson disease 22, autosomal dominant" "Any Parkinson disease in which the cause of the disease is a mutation in the CHCHD2 gene." "" + "rhizomelic chondrodysplasia punctata type 5" "Any rhizomelic chondrodysplasia punctata in which the cause of the disease is a mutation in the PEX5 gene." "" + "peroxisome biogenesis disorder due to PEX5 defect in the PEX7-binding domain" "Any peroxisome biogenesis disorder due to PEX5 in which the cause of the disease is a mutation in the PEX7-binding domain of the PEX5 gene." "" + "acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome" "An autosomal recessive cerebellar ataxia that has material basis in homozygous or compound heterozygous mutation in the SCYL1 gene on chromosome 11q13." "" + "congenital myasthenic syndrome 19" "Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the COL13A1 gene." "" + "SLC39A8-CDG" "" + "familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome" "" + "progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome" "" + "tooth agenesis, selective, 7" "Any tooth agenesis in which the cause of the disease is a mutation in the LRP6 gene." "" + "primary ciliary dyskinesia 33" "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the GAS8 gene." "" + "palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome" "Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome is a rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, axial hypotonia, palate abnormalities (including cleft palate and/or high and narrow palate), dysmorphic facial features (including prominent forehead, hypertelorism, downslanting palpebral fissures, wide nasal bridge, thin lips and widely spaced teeth), and short stature. Additional manifestations may include digital anomalies (such as brachydactyly, clinodactyly, and hypoplastic toenails), a single palmar crease, lower limb hypertonia, joint hypermobility, as well as ocular and urogenital anomalies." "" + "nephrotic syndrome, type 11" "Any familial nephrotic syndrome in which the cause of the disease is a mutation in the NUP107 gene." "" + "primary coenzyme Q10 deficiency 8" "Any coenzyme Q10 deficiency in which the cause of the disease is a mutation in the COQ7 gene." "" + "skin creases, congenital symmetric circumferential, 2" "" + "tremor, hereditary essential, 5" "Any essential tremor in which the cause of the disease is a mutation in the TENM4 gene." "" + "macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome" "" + "radioulnar synostosis with amegakaryocytic thrombocytopenia 2" "Any radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome in which the cause of the disease is a mutation in the MECOM gene." "" + "MECOM-associated syndrome" "Any syndrome in which the cause of the disease is a mutation in the MECOM gene. MECOM-associated syndrome has a variable phenotypic pattern, ranging from isolated radioulnar synostosis with no or mild hematological involvement to severe bone marrow failure without obvious skeletal abnormalities. The clinical picture can also include clinodactyly, cardiac and renal malformations, B-cell deficiency, amegakaryocytic thrombocytopenia, and presenile hearing loss." "" + "intellectual disability, autosomal recessive 51" "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the HNMT gene." "" + "TFRC-related combined immunodeficiency" "" + "hereditary pediatric Behçet-like disease" "" + "heterotaxy, visceral, 7, autosomal" "Any visceral heterotaxy in which the cause of the disease is a mutation in the MMP21 gene." "" + "obsolete Bombay phenotype" "" "true" + "spastic paraplegia-severe developmental delay-epilepsy syndrome" "Spastic paraplegia-severe developmental delay-epilepsy syndrome is a rare, genetic, complex spastic paraplegia disorder characterized by an infantile-onset of psychomotor developmental delay with severe intellectual disability and poor speech acquisition, associated with seizures (mostly myoclonic), muscular hypotonia which may be noted at birth, and slowly progressive spasticity in the lower limbs leading to severe gait disturbances. Ocular abnormalities and incontinence are commonly associated. Other symptoms may include verbal dyspraxia, hypogenitalism, macrocephaly and sensorineural hearing loss, as well as dystonic movements and ataxia with upper limb involvement." "" + "woolly hair, autosomal recessive 3" "Any woolly hair in which the cause of the disease is a mutation in the KRT25 gene." "" + "leukodystrophy and acquired microcephaly with or without dystonia;" "" + "Seckel syndrome 9" "Any Seckel syndrome in which the cause of the disease is a mutation in the TRAIP gene." "" + "Joubert syndrome 25" "Any Joubert syndrome in which the cause of the disease is a mutation in the CEP104 gene." "" + "Joubert syndrome 26" "Any Joubert syndrome in which the cause of the disease is a mutation in the KIAA0556 gene." "" + "orofacial cleft 15" "Any cleft lip/palate in which the cause of the disease is a mutation in the DLX4 gene." "" + "cardiac anomalies - developmental delay - facial dysmorphism syndrome" "" + "neuroblastoma, susceptibility to, 7" "" + "combined oxidative phosphorylation deficiency 28" "Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the SLC25A26 gene." "" + "spinocerebellar ataxia type 42" "" + "hypotonia, infantile, with psychomotor retardation and characteristic facies 2" "Any hypotonia, infantile, with psychomotor retardation and characteristic facies in which the cause of the disease is a mutation in the UNC80 gene." "" + "Lamb-Shaffer syndrome" "" + "Wilms tumor 6" "Any Wilms tumor in which the cause of the disease is a mutation in the REST gene." "" + "hyperphosphatasia with intellectual disability syndrome 6" "Any hyperphosphatasia-intellectual disability syndrome in which the cause of the disease is a mutation in the PIGY gene." "" + "combined oxidative phosphorylation deficiency 29" "Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the TXN2 gene." "" + "autosomal recessive limb-girdle muscular dystrophy type 2X" "Autosomal recessive limb-girdle muscular dystrophy type 2X is a rare subtype of autosomal recessive limb-girdle muscular dystrophy characterized by atrioventricular block resulting in repeated syncope episodes, elevated creatine kinase serum levels and adult-onset of slowly progressive proximal limb skeletal muscle weakness and atrophy. Muscular dystrophic changes observed in muscle biopsy include diameter variability, increased central nuclei, and presence of necrotic and regenerating fibers." "" + "preimplantation embryonic lethality 1" "Any preimplantation embryonic lethality in which the cause of the disease is a mutation in the TLE6 gene." "" + "severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome" "Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome is a rare, genetic, non-dystrophic congenital myopathy disorder characterized by a neonatal-onset of severe generalized hypotonia associated with mild psychomotor delay, congenital strabismus with abducens nerve palsy, and atrial and/or ventricular septal defects. Cryptorchidism is commonly reported in male patients and muscle biopsy typically reveals increased variability in muscle fiber size." "" + "microcephaly, short stature, and impaired glucose metabolism 2" "Any microcephaly, short stature, and impaired glucose metabolism in which the cause of the disease is a mutation in the PPP1R15B gene." "" + "IgA nephropathy, susceptibility to, 3" "Any IgA glomerulonephritis in which the cause of the disease is a mutation in the SPRY2 gene." "" + "severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome" "" + "autosomal recessive limb-girdle muscular dystrophy type 2W" "Autosomal recessive limb-girdle muscular dystrophy type 2W is a subtype of autosomal recessive limb girdle muscular dystrophy characterized by childhood onset of severe, progressive, proximal skeletal muscle weakness and atrophy of the upper and lower limbs with later involvement of distal muscles and development of severe quadraparesis, calf hypertrophy, triangular tongue, and dilated cardiomyopathy. Skeletal muscles undergo diffuse, bilateral, symmetric and severe atrophy with fat infiltration." "" + "CCDC115-CDG" "" + "TMEM199-CDG" "" + "Luscan-Lumish syndrome" "" + "Paget disease of bone 6" "" + "microcephaly-congenital cataract-psoriasiform dermatitis syndrome" "" + "Meier-Gorlin syndrome 6" "Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the GMNN gene." "" + "exercise intolerance, riboflavin-responsive" "" + "autosomal recessive early-onset Parkinson disease 23" "Any young-onset Parkinson disease in which the cause of the disease is a mutation in the VPS13C gene." "" + "lymphatic malformation 6" "" + "brachydactyly type A1D" "Any brachydactyly type A1 in which the cause of the disease is a mutation in the BMPR1B gene." "" + "cataract 45" "Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the SIPA1L3 gene." "" + "progressive scapulohumeroperoneal distal myopathy" "" + "even-plus syndrome" "" + "Cowden syndrome 7" "Any Cowden disease in which the cause of the disease is a mutation in the SEC23B gene." "" + "spasticity-ataxia-gait anomalies syndrome" "" + "sideroblastic anemia 3" "" + "Hao-Fountain syndrome" "A neurodevelopmental disorder characterized by global developmental delay, variably impaired intellectual development with significant speech delay, behavioral abnormalities, such as autism, and mild dysmorphic facies. Additional features are variable, but may include hypotonia, feeding problems, delayed walking with unsteady gait, hypogonadism in males, and ocular anomalies, such as strabismus. Some patients develop seizures and some have mild white matter abnormalities on brain imaging. The cause of the disease is a mutation in the USP7 gene." "" + "spinal muscular atrophy with congenital bone fractures 1" "Any prenatal-onset spinal muscular atrophy with congenital bone fractures in which the cause of the disease is a mutation in the TRIP4 gene." "" + "spinal muscular atrophy with congenital bone fractures 2" "Any prenatal-onset spinal muscular atrophy with congenital bone fractures in which the cause of the disease is a mutation in the ASCC1 gene." "" + "congenital secretory sodium diarrhea 8" "Any secretory diarrhea in which the cause of the disease is a mutation in the SLC9A3 gene." "" + "DDX41-related hematologic malignancy predisposition syndrome" "Any hereditary neoplastic syndrome in which the cause of the disease is a mutation in the DDX41 gene." "" + "pancytopenia due to IKZF1 mutations" "Any syndrome with combined immunodeficiency in which the cause of the disease is a mutation in the IKZF1 gene." "" + "cerebellar atrophy, visual impairment, and psychomotor retardation;" "" + "obsolete metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration" "" "true" + "hypomyelinating leukodystrophy 13" "Any leukodystrophy in which the cause of the disease is a mutation in the HIKESHI gene." "" + "advanced sleep phase syndrome 3" "Any advanced sleep phase syndrome in which the cause of the disease is a mutation in the PER3 gene." "" + "intellectual disability, autosomal recessive 52" "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the LMAN2L gene." "" + "split-foot malformation-mesoaxial polydactyly syndrome" "" + "nephrotic syndrome, type 12" "Any familial nephrotic syndrome in which the cause of the disease is a mutation in the NUP93 gene." "" + "nephrotic syndrome, type 13" "Any familial nephrotic syndrome in which the cause of the disease is a mutation in the NUP205 gene." "" + "autosomal dominant Robinow syndrome 3" "Any Robinow syndrome in which the cause of the disease is a mutation in the DVL3 gene." "" + "mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)" "Any mitochondrial DNA depletion syndrome in which the cause of the disease is a mutation in the OPA1 gene." "" + "complex lethal osteochondrodysplasia" "" + "15q14 microdeletion syndrome" "15q14 microdeletion syndrome is a recently described syndrome characterized by developmental delay, short stature and facial dysmorphism." "" + "hypotonia, infantile, with psychomotor retardation and characteristic facies 3" "A rare, genetic, syndromic intellectual disability characterized by usually profound intellectual disability with absent speech, severe infantile hypotonia with decreased or absent reflexes, markedly slow motor development (with no progress beyond the ability to sit independently), early-onset epilepsy, strabismus and post-natal onset of progressive brain atrophy (incl. loss of brain volume, ex vacuo ventriculomegaly, dysgenesis of corpus callosum, white matter abnormalities ranging from non-specific changes to leukodystrophy). Swallowing difficulties, respiratory insufficiency, osteoporosis and variable craniofacial dysmorphisms (incl. plagio/brachicephaly, bitemporal narrowing, high-arched eyebrows, high nasal bridge, anteverted nares, high palate, tented upper lip) may constitute additional clinical features." "" + "craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome" "" + "chromosome 11p13 deletion syndrome, distal" "" + "nucleoside diphosphate-linked moiety X Motif 15 deficiency" "True" + "autosomal recessive spastic paraplegia type 76" "Autosomal recessive spastic paraplegia type 76 is a rare, complex hereditary spastic paraplegia characterized by adult onset slowly progressive, mild to moderate lower limb spasticity and hyperreflexia, resulting in gait disturbances, commonly associated with upper limb hyperreflexia and dysarthria. Foot deformities (usually pes cavus) and extensor plantar responses are also frequent. Additional features may include ataxia, lower limb weakness/amyotrophy, abnormal bladder function, distal sensory loss and mild intellectual deterioration." "" + "immunodeficiency-centromeric instability-facial anomalies syndrome 3" "Any immunodeficiency-centromeric instability-facial anomalies syndrome in which the cause of the disease is a mutation in the CDCA7 gene." "" + "immunodeficiency-centromeric instability-facial anomalies syndrome 4" "Any immunodeficiency-centromeric instability-facial anomalies syndrome in which the cause of the disease is a mutation in the HELLS gene." "" + "platelet-type bleeding disorder 20" "Any inherited bleeding disorder, platelet-type in which the cause of the disease is a mutation in the SLFN14 gene." "" + "progeroid and marfanoid aspect-lipodystrophy syndrome" "" + "intellectual disability, autosomal recessive 53" "" + "heart and brain malformation syndrome" "" + "dyskinesia, limb and orofacial, infantile-onset" "" + "striatal degeneration, autosomal dominant 2" "Any striatal degeneration, autosomal dominant in which the cause of the disease is a mutation in the PDE10A gene." "" + "Charcot-Marie-Tooth disease axonal type 2CC" "Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the NEFH gene." "" + "thrombocytopenia 6" "" + "Coffin-Siris syndrome 5" "Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the SMARCE1 gene." "" + "chorea, childhood-onset, with psychomotor retardation" "" + "agammaglobulinemia 8, autosomal dominant" "Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the TCF3 gene." "" + "trichothiodystrophy 6, nonphotosensitive" "Any nonphotosensitive trichothiodystrophy in which the cause of the disease is a mutation in the GTF2E2 gene." "" + "intellectual disability, autosomal dominant 41" "Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the TBL1XR1 gene." "" + "premature ovarian failure 11" "Any primary ovarian failure in which the cause of the disease is a mutation in the ERCC6 gene." "" + "premature ovarian failure 12" "Any primary ovarian failure in which the cause of the disease is a mutation in the SYCE1 gene." "" + "spinocerebellar ataxia, autosomal recessive 22" "Any autosomal recessive cerebellar ataxia in which the cause of the disease is a mutation in the VWA3B gene." "" + "autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome due to TUD deficiency" "" + "spermatogenic failure 15" "Any azoospermia in which the cause of the disease is a mutation in the SYCE1 gene." "" + "TELO2-related intellectual disability-neurodevelopmental disorder" "" + "partial monosomy of the long arm of chromosome 9" "" + "obsolete autosomal recessive nonsyndromic deafness 105" "" "true" + "retinitis pigmentosa and erythrocytic microcytosis" "" + "hypercalcemia, infantile, 2" "Any hypercalcemia, infantile in which the cause of the disease is a mutation in the SLC34A1 gene." "" + "obsolete palmoplantar carcinoma, multiple self-healing" "" "true" + "autosomal dominant nonsyndromic hearing loss 70" "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the MCM2 gene." "" + "autosomal dominant nonsyndromic hearing loss 66" "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the CD164 gene." "" + "intellectual disability, autosomal dominant 42" "Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the GNB1 gene." "" + "global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome" "" + "combined oxidative phosphorylation defect type 30" "Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the TRMT10C gene." "" + "neurodevelopmental disorder with or without anomalies of the brain, eye, or heart" "" + "intellectual disability, autosomal dominant 43" "Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the HIVEP2 gene." "" + "developmental and epileptic encephalopathy, 37" "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the FRRS1L gene." "" + "polycystic liver disease 2" "Any polycystic kidney disease in which the cause of the disease is a mutation in the SEC63 gene." "" + "autoimmune disease, multisystem, infantile-onset, 2" "Any autoimmune disease, multisystem, infantile-onset in which the cause of the disease is a mutation in the ZAP70 gene." "" + "cerebral palsy, spastic quadriplegic, 3" "Any spastic quadriplegia in which the cause of the disease is a mutation in the ADD3 gene." "" + "macrocephaly, dysmorphic facies, and psychomotor retardation" "" + "hypermanganesemia with dystonia 2" "Any hypermanganesemia with dystonia in which the cause of the disease is a mutation in the SLC39A14 gene." "" + "autosomal recessive severe congenital neutropenia due to CSF3R deficiency" "" + "Charcot-Marie-Tooth disease axonal type 2T" "A Charcot-Marie-Tooth disease type 2 that has material basis in homozygous or compound heterozygous mutation in the MME gene on chromosome 3q25." "" + "spinocerebellar ataxia 43" "Spinocerebellar ataxia type 43 is a rare autosomal dominant cerebellar ataxia type I disorder characterized by late adult-onset of slowly progressive cerebellar ataxia, typically presenting with balance and gait disturbances, in association with axonal peripheral neuropathy resulting in reduced/absent deep tendon reflexes and sensory impairment. Lower limb pain and amyotrophy may be present, as well as various cerebellar signs, including dysarthria, nystagmus, hypometric saccades and tremor." "" + "developmental and epileptic encephalopathy, 38" "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the ARV1 gene." "" + "hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome" "" + "NEK9-related lethal skeletal dysplasia" "NEK9-related lethal skeletal dysplasia is a rare, lethal, primary bone dysplasia characterized by fetal akinesia, multiple contractures, shortening of all long bones, short, broad ribs, narrow chest and thorax, pulmonary hypoplasia and a protruding abdomen. Short bowed femurs may also be associated." "" + "retinitis pigmentosa 75" "Any retinitis pigmentosa in which the cause of the disease is a mutation in the AGBL5 gene." "" + "congenital stationary night blindness 1H" "Any congenital stationary night blindness in which the cause of the disease is a mutation in the GNB3 gene." "" + "nevus comedonicus syndrome" "A rare developmental skin condition consisting of abnormal pilosebaceous follicle development. It is characterized by linear or band-like distributions of groups of comedones, usually on the face, neck, upper arm, chest, and abdomen, that appear at birth or in childhood." "" + "pontocerebellar hypoplasia, type 2F" "Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the TSEN15 gene." "" + "hyperaldosteronism, familial, type IV" "" + "intellectual disability, autosomal recessive 54" "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the TNIK gene." "" + "myopathy, distal, 5" "Any distal myopathy in which the cause of the disease is a mutation in the ADSSL1 gene." "" + "patent ductus arteriosus 2" "" + "obsolete patent ductus arteriosus 3" "" "true" + "Duane retraction syndrome 3 with or without deafness" "Duane syndrome type 3 is a disorder of eye movement.The affected eye, or eyes, has limited ability to move both inward toward the nose and outward toward the ears. The eye opening narrows and the eyeball pulls in when looking inward toward the nose. About 15 percent of all cases of Duane syndrome are type 3. Most cases occur without other signs and symptoms.In most people with Duane syndrome type 3, the cause is unknown; but it can sometimes be caused by mutations in the CHN1 gene and inherited in an autosomal dominant fashion." "" + "transketolase deficiency" "" + "hereditary spastic paraplegia 77" "Autosomal recessive spastic paraplegia type 77 is a rare, pure or complex hereditary spastic paraplegia characterized by an infancy to childhood onset of slowly progressive lower limb spasticity, delayed motor milestones, gait disturbances, hyperreflexia and various muscle abnormalities, including weakness, hypotonia, intention tremor and amyotrophy. Ocular abnormalities (e.g. strabismus, ptosis) and other neurological abnormalities, such as dysarthria, seizures and extensor plantar responses, may also be associated." "" + "hypertrophic cardiomyopathy 26" "Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the FLNC gene." "" + "cholestasis, progressive familial intrahepatic, 5" "Any progressive familial intrahepatic cholestasis in which the cause of the disease is a mutation in the NR1H4 gene." "" + "Hermansky-Pudlak syndrome 10" "Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the AP3D1 gene." "" + "severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome" "" + "bone marrow failure syndrome 3" "Any bone marrow failure syndrome in which the cause of the disease is a mutation in the DNAJC21 gene." "" + "MIRAGE syndrome" "An autosomal dominant condition caused by mutation(s) in the SAMD9 gene, encoding sterile alpha motif domain-containing protein 9A. It is a syndromic condition comprising myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital abnormalities, and enteropathy." "" + "striatonigral degeneration, childhood-onset" "" + "PERCHING syndrome" "Any cold-induced sweating syndrome in which the cause of the disease is a mutation in the KLHL7 gene." "" + "hyperuricemic nephropathy, familial juvenile type 4" "Any familial juvenile hyperuricemic nephropathy in which the cause of the disease is a mutation in the SEC61A1 gene." "" + "SEC61A1 deficiency" "Any Mendelian disease in which the cause of the disease is a mutation in the SEC61A1 gene. It is characterized by variable presentation of phenotypes in patients, including autosomal dominant tubulointerstitial kidney disease, primary antibody deficiency, and severe congenital neutropenia." "" + "micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome" "" + "Okur-Chung neurodevelopmental syndrome" "" + "Meier-Gorlin syndrome 7" "Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the CDC45 gene." "" + "developmental and epileptic encephalopathy, 40" "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GUF1 gene." "" + "congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome" "" + "obsolete portal hypertension, noncirrhotic" "" "true" + "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3" "Any autosomal recessive progressive external ophthalmoplegia in which the cause of the disease is a mutation in the TK2 gene." "" + "adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency" "Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency is an extremely rare multiple mitochondrial DNA deletion syndrome with markedly decreased deoxyguanosine kinase (DGUOK) activity in skeletal muscle characterized by a highly variable phenotype. Clinical manifestations include progressive external ophthalmoplegia, mitochondrial myopathy, recurrent rhabdomyolysis, lower motor neuron disease, mild cognitive impairment, sensory axonal neuropathy, optic atrophy, ataxia, hypogonadism and/or parkinsonism." "" + "autosomal recessive limb-girdle muscular dystrophy type 2Y" "Autosomal recessive limb-girdle muscular dystrophy type 2Y (LGMD2Y) is a form of limb-girdle muscular dystrophy, presenting in the first or second decades of life, characterized by slowly progressive proximal and distal muscle weakness and atrophy. Additional manifestations include contractures of the proximal and distal interphalangeal hand joints, rigid spine, restricted pulmonary function, and mild cardiomyopathy." "" + "qualitative or quantitative defects of Torsin-1A-interacting protein 1" "" + "tooth agenesis, selective, 8" "Any tooth agenesis in which the cause of the disease is a mutation in the WNT10B gene." "" + "nasopharyngeal carcinoma, susceptibility to, 3" "Any nasopharyngeal carcinoma in which the cause of the disease is a mutation in the MST1R gene." "" + "seizures, benign familial infantile, 5" "Any benign familial infantile epilepsy in which the cause of the disease is a mutation in the SCN8A gene." "" + "congenital disorder of glycosylation, type IAA" "" + "encephalopathy due to defective mitochondrial and peroxisomal fission 2" "" + "Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;" "An autosomal recessive sub-type of Charcot-Marie-Tooth disease caused by compound heterozygous or homozygous mutation(s) in the MFN2 gene, encoding mitofusin-2. This condition is more severe and has an earlier onset as compared to Charcot-Marie-Tooth disease type 2A2A." "" + "short-rib thoracic dysplasia 15 with polydactyly" "" + "microcephaly 17, primary, autosomal recessive" "Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CIT gene." "" + "primary ciliary dyskinesia 34" "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAJB13 gene." "" + "primary ciliary dyskinesia 35" "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the TTC25 gene." "" + "growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy" "A rare, genetic, syndromic intellectual disability disease characterized by severe intrauterine and post-natal growth delay, moderate to severe intellectual disability, and neonatal-onset hepatopathy with fibrosis, steatosis, and/or cholestasis, occasionally leading to liver failure. Additional variable manifestations include muscular hypotonia, zinc deficiency, recurrent infections, diabetes mellitus, joint contractures, skin and joint laxity, hypervitaminosis D, and sensorineural hearing loss." "" + "infantile-onset periodic fever-panniculitis-dermatosis syndrome" "" + "" "true" + "familial adenomatous polyposis 4" "Familial adenomatous polyposis-4 is an autosomal recessive tumor predisposition syndrome characterized by the development of multiple colonic adenomas in adulthood, often with progression to colorectal cancer. Proliferative lesions in other tissues may also occur (summary by {1:Adam et al., 2016}).nnFor a discussion of genetic heterogeneity of familial adenomatous polyposis, see FAP1 (OMIM:175100)." "" + "Dias-Logan syndrome" "Any BAFopathy in which the cause of the disease is a mutation in the BCL11A gene." "" + "short-rib thoracic dysplasia 16 with or without polydactyly" "" + "developmental and epileptic encephalopathy, 41" "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SLC1A2 gene." "" + "developmental and epileptic encephalopathy, 42" "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the CACNA1A gene." "" + "tall stature-intellectual disability-renal anomalies syndrome" "" + "sessile serrated polyposis cancer syndrome" "" + "hyperplastic polyposis syndrome" "Hyperplastic polyposis syndrome is a rare, genetic intestinal disease characterized by the presence of multiple (usually large) hyperplastic/serrated colorectal polyps, usually with a pancolonic distribution. Histology reveals hyperplastic polyps, sessile serrated adenomas (most common), traditional serrated adenomas or mixed polyps. It is associated with an increased personal and familial (first-degree relatives) risk of colorectal cancer." "" + "patterned macular dystrophy 3" "Any patterned macular dystrophy in which the cause of the disease is a mutation in the MAPKAPK3 gene." "" + "developmental and epileptic encephalopathy, 43" "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GABRB3 gene." "" + "myofibrillar myopathy 7" "Any myofibrillar myopathy in which the cause of the disease is a mutation in the KY gene." "" + "peeling skin syndrome 5" "Any peeling skin syndrome in which the cause of the disease is a mutation in the SERPINB8 gene." "" + "epilepsy, familial focal, with variable foci 2" "Any epilepsy, familial focal, with variable foci in which the cause of the disease is a mutation in the NPRL2 gene." "" + "familial focal epilepsy with variable foci" "Familial focal epilepsy with variable foci is a rare genetic epilepsy disorder characterized by autosomal dominant lesional and nonlesional focal epilepsy with variable penetrance. Focal seizures emanate from different cortical locations (temporal, frontal, centroparietal, parietal, parietaloccipital, occipital) in different family members, but for each individual a single focus remains constant throughout lifetime. Seizure type (tonic, tonic-clonic or hyperkinetic) and severity varies among family members and tends to decrease (but do not disappear) during adulthood. Many patients have an aura and show automatisms during diurnal seizures whereas others have nocturnal seizures. Most individuals are of normal intelligence but patients with intellectual disability, autistic spectrum disorder and obsessive-compulsive disorder have been described." "" + "epilepsy, familial focal, with variable foci 3" "Any epilepsy, familial focal, with variable foci in which the cause of the disease is a mutation in the NPRL3 gene." "" + "Bardet-Biedl syndrome 22" "Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the IFT74 gene." "" + "Joubert syndrome 27" "Any Joubert syndrome in which the cause of the disease is a mutation in the B9D1 gene." "" + "Joubert syndrome 28" "Any Joubert syndrome in which the cause of the disease is a mutation in the MKS1 gene." "" + "retinitis pigmentosa 76" "Any retinitis pigmentosa in which the cause of the disease is a mutation in the POMGNT1 gene." "" + "intellectual disability, autosomal recessive 56" "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the ZC3H14 gene." "" + "Alazami-Yuan syndrome" "" + "orofaciodigital syndrome XV" "" + "developmental and epileptic encephalopathy, 44" "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the UBA5 gene." "" + "spinocerebellar ataxia, autosomal recessive 24" "Any autosomal dominant cerebellar ataxia in which the cause of the disease is a mutation in the UBA5 gene." "" + "frontometaphyseal dysplasia 2" "Any frontometaphyseal dysplasia in which the cause of the disease is a mutation in the MAP3K7 gene." "" + "frontometaphyseal dysplasia" "Frontometaphyseal dysplasia (FMD) belongs to the otopalatodigital syndrome spectrum disorder and is characterized by anomalous ossification and skeletal patterning of the axial and appendicular skeleton, facial dysmorphism and conductive and sensorineural hearing loss." "" + "ZTTK syndrome" "" + "aniridia 2" "" + "aniridia 3" "Any isolated aniridia in which the cause of the disease is a mutation in the TRIM44 gene." "" + "congenital myasthenic syndrome 20" "Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the SLC5A7 gene." "" + "neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset" "" + "arthrogryposis, distal, with impaired proprioception and touch" "" + "developmental and epileptic encephalopathy, 45" "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GABRB1 gene." "" + "mitochondrial DNA depletion syndrome 15 (hepatocerebral type);" "Any mitochondrial DNA depletion syndrome in which the cause of the disease is a mutation in the TFAM gene." "" + "short stature-brachydactyly-obesity-global developmental delay syndrome" "" + "myopathy, distal, with rimmed vacuoles" "" + "Sifrim-Hitz-Weiss syndrome" "" + "developmental and epileptic encephalopathy, 46" "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GRIN2D gene." "" + "short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay" "" + "developmental and epileptic encephalopathy, 47" "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the FGF12 gene." "" + "aortic aneurysm, familial thoracic 10" "Any familial thoracic aortic aneurysm and aortic dissection in which the cause of the disease is a mutation in the LOX gene." "" + "Sotos syndrome 3" "Any Sotos syndrome in which the cause of the disease is a mutation in the APC2 gene." "" + "intellectual disability-epilepsy-extrapyramidal syndrome" "" + "gnb5-related intellectual disability-cardiac arrhythmia syndrome" "" + "Ehlers-Danlos syndrome, periodontal type 2" "" + "retinal dystrophy with or without extraocular anomalies" "" + "Chitayat syndrome" "" + "language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia" "" + "Harel-Yoon syndrome" "" + "mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant" "" + "encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy" "" + "spermatogenic failure 16" "Any azoospermia in which the cause of the disease is a mutation in the SUN5 gene." "" + "intellectual disability, autosomal recessive 57" "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the MBOAT7 gene." "" + "Shashi-Pena syndrome" "" + "obsolete encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum" "" "true" + "lethal congenital contracture syndrome 11" "Any lethal congenital contracture syndrome in which the cause of the disease is a mutation in the GLDN gene." "" + "periventricular nodular heterotopia 7" "Any periventricular nodular heterotopia in which the cause of the disease is a mutation in the NEDD4L gene." "" + "heterotaxy, visceral, 8, autosomal" "Any visceral heterotaxy in which the cause of the disease is a mutation in the PKD1L1 gene." "" + "encephalopathy, progressive, with amyotrophy and optic atrophy" "" + "isolated sedoheptulokinase deficiency" "" + "spermatogenic failure 17" "Any azoospermia in which the cause of the disease is a mutation in the PLCZ1 gene." "" + "amelogenesis imperfecta, hypomaturation type, IIa6" "" + "chromosome 19q13.11 deletion syndrome, proximal" "Chromosome 19q13.11 deletion syndrome in which the proximal region was deleted." "" + "sudden cardiac failure, infantile" "" + "sudden cardiac failure, alcohol-induced" "" + "autosomal recessive spastic paraplegia type 78" "Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the ATP13A2 gene." "" + "lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome" "Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome is rare, genetic, neurometabolic disease characterized by global developmental delay, severe hypotonia, seizures, cataracts, cardiomyopathy (including left or bi-ventricular hypertrophy, dilated cardiomyopathy) and left ventricular non-compaction, typically resulting in infantile or early-childhood death. Patients usually present metabolic lactic acidosis, failure to thrive, head lag, respiratory problems and decrease in respiratory chain complex activity. Highly variable cerebral abnormalities have been reported and include microcephaly, prominent extra-axial cerebrospinal fluid spaces, diffuse neuronal loss and cortical/white matter gliosis." "" + "autosomal recessive limb-girdle muscular dystrophy type 2Z" "An autosomal recessive condition caused by mutation(s) in the POGLUT1 gene, encoding protein O-glucosyltransferase 1. It is characterized by progressive muscular dystrophy, primarily affecting the proximal muscles, resulting in difficulty walking." "" + "preimplantation embryonic lethality 2" "Any preimplantation embryonic lethality in which the cause of the disease is a mutation in the PADI6 gene." "" + "myoclonus, intractable, neonatal" "" + "cone-rod dystrophy and hearing loss" "" + "immunodeficiency 49" "Any primary immunodeficiency disease in which the cause of the disease is a mutation in the BCL11B gene." "" + "myopia 25, autosomal dominant" "Any myopia (disease) in which the cause of the disease is a mutation in the P4HA2 gene." "" + "congenital myasthenic syndrome 21" "Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the SLC18A3 gene." "" + "lung disease, immunodeficiency, and chromosome breakage syndrome;" "" + "Fanconi anemia complementation group V" "Any Fanconi anemia in which the cause of the disease is a mutation in the MAD2L2 gene." "" + "Fanconi anemia complementation group R" "Any Fanconi anemia in which the cause of the disease is a mutation in the RAD51 gene." "" + "Fanconi anemia complementation group U" "Any Fanconi anemia in which the cause of the disease is a mutation in the XRCC2 gene." "" + "obsolete 3-methylglutaconic aciduria, type VIII" "" "true" + "uncombable hair syndrome 2" "Any uncombable hair syndrome in which the cause of the disease is a mutation in the TGM3 gene." "" + "uncombable hair syndrome 3" "Any uncombable hair syndrome in which the cause of the disease is a mutation in the TCHH gene." "" + "Seckel syndrome 10" "Any Seckel syndrome in which the cause of the disease is a mutation in the NSMCE2 gene." "" + "lissencephaly 8" "Any lissencephaly (disease) in which the cause of the disease is a mutation in the TMTC3 gene." "" + "myofibrillar myopathy 8" "Any myofibrillar myopathy in which the cause of the disease is a mutation in the PYROXD1 gene." "" + "global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies" "" + "neurodevelopmental disorder with hypotonia, seizures, and absent language" "" + "intellectual disability, autosomal recessive 58" "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the ELP2 gene." "" + "nephronophthisis 20" "Any nephronophthisis in which the cause of the disease is a mutation in the MAPKBP1 gene." "" + "glaucoma 3, primary congenital, E" "" + "tooth agenesis, selective, 9" "Any tooth agenesis in which the cause of the disease is a mutation in the GREM2 gene." "" + "developmental and epileptic encephalopathy, 48" "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the AP3B2 gene." "" + "atrial fibrillation, familial, 18" "Any familial atrial fibrillation in which the cause of the disease is a mutation in the MYL4 gene." "" + "developmental and epileptic encephalopathy, 49" "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the DENND5A gene." "" + "dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities" "" + "dystonia 28, childhood-onset" "Any dystonic disorder in which the cause of the disease is a mutation in the KMT2B gene." "" + "epilepsy, early-onset, vitamin B6-dependent" "" + "generalized basal epidermolysis bullosa simplex with skin atrophy, scarring and hair loss" "" + "spastic paraplegia, intellectual disability, nystagmus, and obesity;" "" + "amelogenesis imperfecta, type 1J" "" + "lymphatic malformation 7" "" + "atypical glycine encephalopathy" "Atypical glycine encephalopathy is a rare form of glycine encephalopathy (GE) presenting disease onset or clinical manifestations that differ from neonatal or infantile GE." "" + "optic atrophy 11" "Any autosomal recessive isolated optic atrophy in which the cause of the disease is a mutation in the YME1L1 gene." "" + "mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders" "" + "mucopolysaccharidosis or mucopolysaccharidosis-like disorder" "Any disease that presents as a mucopolysaccharidosis or mucopolysaccharidosis-like disorder." "" + "retinitis pigmentosa 77" "Any retinitis pigmentosa in which the cause of the disease is a mutation in the REEP6 gene." "" + "coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness" "" + "congenital bile acid synthesis defect 6" "Any congenital bile acid synthesis defect in which the cause of the disease is a mutation in the ACOX2 gene." "" + "anterior segment dysgenesis 6" "" + "anterior segment dysgenesis 8" "Any anterior segment dysgenesis in which the cause of the disease is a mutation in the CPAMD8 gene." "" + "ichthyosis, congenital, autosomal recessive 12" "Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the CASP14 gene." "" + "susceptibility to Yao syndrome" "" + "intellectual disability, autosomal recessive 59" "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the IMPA1 gene." "" + "hypotonia, ataxia, and delayed development syndrome" "" + "intellectual developmental disorder with dysmorphic facies and ptosis" "" + "MYPN-related myopathy" "Congenital myopathy caused by pathogenic mutations in MYPN that lead to a wide spectrum of phenotypes. Patients with mutations in this gene often experience muscle weakness, facial weakness, and sometimes cardiac and respiratory issues. Histological findings on skeletal muscle biopsy are variable with nemaline bodies and cap-like lesions." "" + "ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type" "Any ectodermal dysplasia syndrome in which the cause of the disease is a mutation in the KDF1 gene." "" + "developmental and epileptic encephalopathy, 51" "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the MDH2 gene." "" + "cerebroretinal microangiopathy with calcifications and cysts 2" "Any Coats plus syndrome in which the cause of the disease is a mutation in the STN1 gene." "" + "48,XXYY syndrome" "The 48,XXYY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of an extra X and Y chromosome in males." "" + "X and Y chromosomal anomaly" "True" + "reticular perineurioma" "" + "extraneural perineurioma" "Extraneural perineurioma is a rare tumor of cranial and spinal nerves arising from peripheral nerve sheet and composed exclusively or predominantly of cells showing perineurial differentiation. It presents as a well-circumscribed, rarely encapsulated mass, not associated with a recognizable nerve, most commonly arising in the dermis and subcutis of the extremities or trunk, or, rarely, in deep soft tissue or skin (e.g., in the stomach, kidney, pancreas, maxillary sinus, mandible, bronchial tree and the face). The clinical presentation depends on the localization." "" + "sclerosing perineurioma" "" + "perineurioma" "A usually benign perineurioma not associated with a nerve, arising from the soft tissues." "" + "intraneural perineurioma" "A WHO grade I perineurioma that arises within the endoneurium. It is characterized by the formation of pseudo-onion bulbs by the proliferating perineural cells." "" + "ABeta amyloidosis, dutch type" "Hereditary cerebral hemorrhage with amyloidosis, Dutch type (HCHWA-D) is a form of HCHWA, a group of familial central nervous system disorders, characterized by severe cerebral amyloid angiopathy (CAA), hemorrhagic and non-hemorrhagic strokes and dementia." "" + "lissencephaly with cerebellar hypoplasia type A" "Lissencephaly with cerebellar hypoplasia type A (LCHa) is a form of lissencephaly with cerebellar hypoplasia that encompasses classical lissencephaly with thickened cortical gray matter with either no discernable gradient, a gradient with posterior predominance, or a gradient with anterior predominance, and cerebellar vermis hypoplasia." "" + "lissencephaly with cerebellar hypoplasia" "Lissencephaly with cerebellar hypoplasia (LCH) is a variant form of lissencephaly and involves a heterogeneous group of cortical malformations without severe congenital microcephaly (>-3 SD). LCH is characterized by cerebellar underdevelopment ranging from vermian hypoplasia to total aplasia with classical or cobblestone lissencephaly. The phenotypic features of LCH include small head circumference (between -2 and -3 standard deviations (SD) forage) at birth and postnatally, moderate to severe intellectual disability, hypotonia and spasticity. Seizures are often observed and infantile spasms have been reported in some rare cases. LCH has been classified into six subgroups according to neuroradiographic properties and are classified LCH type A to F." "" + "lissencephaly with cerebellar hypoplasia type B" "Lissencephaly with cerebellar hypoplasia type B (LCHb) is a form of lissencephaly with cerebellar hypoplasia characterized by subtle microcephaly, hypotonia and neurological and cognitive development delay. Hippocampal malformation is a characteristic imaging feature of LCHb." "" + "lissencephaly with cerebellar hypoplasia type C" "Lissencephaly with cerebellar hypoplasia type C (LCHc) is a severe form of lissencephaly with cerebellar hypoplasia characterized by severe microcephaly, cleft palate, and severe cerebellar and brainstem hypoplasia leading to neonatal death." "" + "lissencephaly with cerebellar hypoplasia type D" "Lissencephaly with cerebellar hypoplasia type D (LCHd) is a form of lissencephaly with cerebellar hypoplasia characterized by pronounced microcephaly (at least B1 3 SD), intellectual disability, spastic diplegia and moderate to severe cerebellar hypoplasia involving both vermis and hemispheres." "" + "lissencephaly with cerebellar hypoplasia type E" "Lissencephaly with cerebellar hypoplasia type E (LCHe) is a form of lissencephaly with cerebellar hypoplasia, characterized by an abrupt transition from agyria to gyral simplification, near the boundary between frontal and parietal cortex, microcephaly (B1 3 SD) and brainstem hypoplasia." "" + "lissencephaly with cerebellar hypoplasia type F" "Lissencephaly with cerebellar hypoplasia type F (LCHf) is a severe form of lissencephaly with cerebellar hypoplasia, characterized by a microcephaly of at least - 3 SD and a thick cortex associated with complete absence of the corpus callosum." "" + "myelodysplastic syndrome with excess blasts-1" "A myelodysplastic syndrome defined by 5-9% blasts in the bone marrow, and <5% blasts in the blood. Approximately 25% of cases progress to an acute leukemia. (WHO)" "" + "myelodysplastic syndrome with excess blasts" "A myelodysplastic syndrome characterized by the presence of 5-19% myeloblasts in the bone marrow or 2-19% blasts in the peripheral blood. It includes two categories: myelodysplastic syndrome with excess blasts-1 and myelodysplastic syndrome with excess blasts-2." "" + "myelodysplastic syndrome with excess blasts-2" "A myelodysplastic syndrome defined by 10-19% blasts in the bone marrow or 5-19% blasts in the blood and <10% blasts in the bone marrow. Approximately 33% of cases progress to acute leukemia. The prognosis is usually poor. (WHO)" "" + "primary plasmacytoma of the bone" "" + "extramedullary soft tissue plasmacytoma" "" + "mu-heavy chain disease" "Mu-heavy chain disease (mu-HCD) is a type of HCD characterized by the production of incomplete monoclonal mu-heavy chains without associated light chains. The clinical presentation resembles that of patients with chronic lymphocytic leukemia/small lymphocytic lymphoma (CLL/SLL)." "" + "alpha-heavy chain disease" "Alpha-heavy chain disease (alpha-HCD) is a type of HCD characterized by the production of incomplete monoclonal alpha-heavy chains without associated light chains. Alpha-HCD is considered to be a subtype of immunoproliferative small intestinal disease (IPSID). The clinical presentation includes chronic diarrhea with evidence of malabsorption." "" + "gamma-heavy chain disease" "Gamma-heavy chain disease (gamma-HCD) is a type of HCD characterized by the production of incomplete monoclonal gamma-heavy chains without associated light chains. The clinical presentation most commonly resembles that of patients with systemic lymphoproliferative/autoimmune diseases." "" + "solitary necrotic nodule of the liver" "Solitary necrotic tumor of the liver is a rare nonmalignant hepatic lesion characterized by a mass with a completely necrotic core often partially calcified, surrounded by a dense hyalinized fibrous capsule containing elastin fibers. Patients are usually asymptomatic but some may suffer from intermittent abdominal pain or discomfort." "" + "esophageal duplication cyst" "Esophageal duplication cyst is a rare, congenital, non-syndromic esophageal malformation, most frequently located in the distal esophagus and usually diagnosed in childhood, characterized by tubular or spherical cystic masses that have a double layer of surrounding smooth muscle lined with squamous or enteric epithelium, are continuous or contiguous to the esophagus and may, or may not, communicate with the esophageal lumen. Patients are frequently asymptomatic, or could present with a wide range of symptoms including respiratory distress, failure to thrive, dysphagia, epigastric discomfort, vomiting, stridor, non-productive cough, and chest pain. Other more rare symptoms, such as cardiac arrhythmia, thoracic back pain, cystic hemorrgage and ulceration, and mediastinitis, have also been reported." "" + "duplication of the esophagus" "" + "tubular duplication of the esophagus" "Tubular duplication of the esophagous is a rare congenital malformation where a second structure with individual lumen and stratified squamous mucosa and muscularis mucosa lies within or adjacent to the true esophagus causing dysphagia, nausea, vomiting, retrosternal pain and respiratory problems (stridor and recurrent pneumonia) and usually presenting in children." "" + "primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies" "Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies is a group of interstitial lung diseases (ILD) induced by genetic mutations disrupting surfactant function and gas exchange in the lung. The disorders caused by these mutations affect full-term infants and older children and exhibit considerable overlap in their clinical and histologic presentation." "True" + "hereditary angioedema type 1" "Hereditary angioedema type 1 (HAE 1) is a form of hereditary angioedema characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway." "" + "hereditary angioedema with C1Inh deficiency" "Forms of hereditary angioedema that occur due to mutations in the gene for complement C1 inhibitor protein. Type I hereditary angioedema is associated with reduced serum levels of complement C1 inhibitor protein. Type II hereditary angioedema is associated with the production of a non-functional complement C1 inhibitor protein." "" + "hereditary angioedema type 2" "Hereditary angioedema type 2 (HAE 2) is a form of hereditary angioedema characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway." "" + "acquired angioedema type 2" "Acquired angioedema type 2 (AAE2) is a type of acquired angioedema (AAE) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway." "" + "acquired angioedema" "Acquired angioedema (AAE) is characterized by the occurrence of transitory and recurrent subcutaneous and/or submucosal edemas resulting in swelling and/or abdominal pain due to an acquired C1 inhibitor (C1-INH) deficiency." "" + "acquired angioedema type 1" "Acquired angioedema type 1 (AAE 1) is a type of acquired angioedema (AAE) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway." "" + "renin-angiotensin-aldosterone system-blocker-induced angioedema" "Renin-angiotensin-aldosterone system (RAAS)-blocker induced angioedema (RAE) is a type of acquired angioedema (AAE) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway." "" + "obsolete Waterhouse-Friderichsen syndrome" "" "true" + "frontotemporal neurodegeneration with movement disorder" "True" + "mosaic trisomy 3" "Mosaic trisomy 3 is a rare chromosomal anomaly syndrome with high phenotypic variability ranging from a mild phenotype presenting joint pain and laxity, mild facial dysmorphism (e.g. long facies, prominent eyes, dysplastic ears, downturned corners of the mouth, micrognathia) and no developmental delays to more severe phenotypes including short stature, intellectual disability, severe developmental delays, additional craniofacial dysmorphic features (e.g. brachycephaly, high forehead, flat midface, short neck) and hearing impairment, as well as skeletal (e.g. pectus excavatum, scoliosis), ocular (e.g. coloboma) and cardiac abnormalities." "" + "chromosome 3 disorder" "Chromosomal disorder in which chromosome 3 is affected." "" + "neurogenic thoracic outlet syndrome" "Neurogenic thoracic outlet syndrome (NTOS) is a form of thoracic outlet syndrome (TOS) that presents with pain, paresthesias and weakness in an upper extremity and is divided into true NTOS and disputed NTOS." "" + "appendix neuroendocrine neoplasm" "A neoplasm with neuroendocrine differentiation that arises from the appendix. It includes well differentiated neuroendocrine tumors (low and intermediate grade) and poorly differentiated neuroendocrine carcinomas (high grade)." "" + "neuroendocrine tumor of rectum, well differentiated, low or intermediate grade" "A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the rectum." "" + "neuroendocrine tumor of the anal canal" "A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the anal canal." "" + "neuroendocrine tumor with other location" "True" + "middle ear neuroendocrine tumor" "A neuroendocrine neoplasm that involves the middle ear." "" + "gallbladder neuroendocrine tumor, grade 1/2" "A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the gallbladder." "" + "obsolete rare parathyroid tumor" "Any of the forms of tumor of parathyroid gland that have a rare incidence." "True" "true" + "obsolete gastroenteropancreatic neuroendocrine neoplasm" "" "true" + "obsolete thymic tumor" "" "true" + "alopecia antibody deficiency" "" + "FRAXF syndrome" "FRAXF syndrome was originally identified in a family with developmental delay and an expanded CCG repeat at the folate-sensitive FRAXF fragile site. Since this initial description, FRAXF has been associated with a range of manifestations but no clear phenotype has been established." "" + "bathing suit ichthyosis" "Bathing suit ichthyosis (BSI) is a rare variant of autosomal recessive congenital ichthyosis (ARCI) characterized by the presence of large dark scales in specific areas of the body." "" + "cloverleaf skull-asphyxiating thoracic dysplasia syndrome" "" + "cleft hard palate" "" + "sub-cortical nodular heterotopia" "" + "nodular neuronal heterotopia" "" + "subependymal nodular heterotopia" "" + "Peters anomaly-cataract syndrome" "" + "familial hypofibrinogenemia" "Familial hypofibrinogenemia is a coagulation disorder characterized by mild bleeding symptoms following trauma or surgery due to a reduced plasma fibrinogen concentration." "" + "aortic valve dysplasia" "" + "congenital aortic valve stenosis" "" + "obsolete situs inversus totalis" "" "true" + "unilateral hemispheric polymicrogyria" "" + "unilateral polymicrogyria" "Unilateral polymicrogyria is a cerebral cortical malformation characterized by unilateral excessive cortical folding and abnormal cortical layering. It comprises two sub-types depending on the areas affected: unilateral hemispheric and focal polymicrogyria." "" + "aregenerative anemia" "" + "Marin-Amat syndrome" "" + "non-secreting chemodectoma" "" + "non-secreting paraganglioma" "Non-functioning paraganglioma is a rare neuroendocrine tumor arising from neural crest-derived paraganglion cells (most often in the para-aortic region at the level of renal hilia, organ of Zuckerkandl, thoracic paraspinal region, bladder, and carotid body) not associated with catecholamine secretion. These tumors are usually clinically silent and symptoms, if present, are nonspecific and depend on the location of the tumor. Association with certain hereditary cancer-predisposing syndromes, such as multiple endocrine neoplasia, neurofibromatosis type 1 or von Hippel Lindau syndrome, may be observed." "" + "pulmonary valve agenesis-tetralogy of fallot-absence of ductus arteriosus syndrome" "Pulmonary valve agenesis-tetralogy of Fallot-absence of ductus arteriosus syndrome is a rare congenital heart malformation characterized by a tetralogy of Fallot (pulmonary stenosis, overriding aorta, ventricular septal defect and right ventricular hypertrophy), complete absence or rudimentary pulmonary valve that is both stenotic and regurgitant and an absence of the ductus arteriosus. It presents prenatally with cardiomegaly, polyhydramnios, fetal heart failure, hydrops fetalis and fetal demise or postnatally with cyanosis and respiratory failure due to bronchomalacia secondary to bronchial compression from dilated pulmonary arteries. It is frequently associated with 22q11 deletion." "" + "pulmonary valve agenesis" "Pulmonary valve agenesis is a rare congenital heart malformation characterized by a total or partial absence of the pulmonary valve leaflets associated with stenosis of the pulmonary artery orifice and aneurysmal dilatation of the pulmonary arteries. It usually occurs in association with additional cardiovascular malformations such as teralogy of fallot or ventricular septal defect, or can occur as part of a syndrome (e.g. 22q11.2 deletion syndrome). Clinical features depend on the presence of associated cardiac malformations and include pulmonary insufficiency, bronchial obstruction (secondary to compression by aneurysmally dilated pulmonary arteries), pulmonary stenosis, cyanosis, and cardiac failure.3424" "" + "chronic hepatic porphyria" "Chronic hepatic porphyrias represent a sub-group of porphyrias. They are characterized by bullous photodermatitis caused by a deficiency of uroporphyrinogen decarboxylase (URO-D; the fifth enzyme in the heme biosynthesis pathway). Chronic hepatic porphyria encompasses two diseases: porphyria cutanea tarda and hepatoerythropoietic porphyria (extremely rare)." "" + "genodermatosis with ocular features" "True" + "obsolete African tick typhus" "" "true" + "obsolete rare urogenital disease" "True" "true" + "obsolete rare genetic eye disease" "A form of eye disease that is both rare and inborn." "True" "true" + "obsolete rare non-syndromic intellectual disability" "Rare non-syndromic intellectual disability." "True" "true" + "congenital anomaly of the mitral subvalvular apparatus" "" + "non-genetic cardiac rhythm disease" "" + "obsolete rare pancreatic disease" "Any of the forms of pancreas disease that have a rare incidence." "True" "true" + "obsolete rare vascular liver disease" "True" "true" + "obsolete rare parenchymal liver disease" "True" "true" + "obsolete rare genetic metabolic liver disease" "True" "true" + "obsolete rare biliary tract disease" "Rare biliary tract disease." "True" "true" + "obsolete rare hepatic and biliary tract tumor" "Any of the forms of hepatobiliary neoplasm that have a rare incidence." "True" "true" + "obsolete rare pulmonary disease" "" "true" + "obsolete bronchopulmonary tumor" "" "true" + "obsolete rare acquired eye disease" "True" "true" + "obsolete rare eye tumor" "Any of the forms of eye neoplasm that have a rare incidence." "True" "true" + "obsolete rare diabetes mellitus" "Rare diabetes mellitus." "True" "true" + "obsolete rare inherited dyslipidemia" "Rare lipid metabolism disorder." "True" "true" + "obsolete rare adrenal disease" "True" "true" + "obsolete rare thyroid disease" "Rare thyroid disease." "True" "true" + "pituitary deficiency" "" + "obsolete rare genetic hypothalamic or pituitary disease" "True" "true" + "primary adrenal insufficiency" "A hormonal disorder that occurs when the adrenal glands fail to release adequate amounts of glucocorticoids (cortisol), mineralocorticoids (aldosterone, 11-deoxycorticosterone), and androgens (dehydroepiandrosterone) to meet physiologic needs, despite release of ACTH from the pituitary." "" + "immunodeficiency due to a genetic complement cascade protein anomaly" "True" + "periodic fever syndrome" "Fevers of unknown etiology recurring over months or years." "" + "obsolete rare genetic primary immunodeficiency" "True" "true" + "obsolete rare epilepsy" "Rare epilepsy." "True" "true" + "obsolete ataxia syndrome" "" "true" + "obsolete rare movement disorder" "Rare movement disorder." "True" "true" + "obsolete other syndrome with lissencephaly as a major feature" "True" "true" + "limb-girdle muscular dystrophy" "Limb-girdle muscular dystrophy (LGMD) is a heterogeneous group of muscular dystrophies characterized by proximal weakness affecting the pelvic and shoulder girdles. Cardiac and respiratory impairment may be observed in certain forms of LGMD." "" + "autosomal monosomy" "True" + "autosomal anomaly" "A chromosomal anomaly that involves an autosome." "" + "obsolete rickettsial disease" "" "true" + "obsolete spotted fever rickettsiosis" "" "true" + "obsolete typhus-group rickettsiosis" "" "true" + "unexplained periodic fever syndrome" "" + "multiple congenital anomalies/dysmorphic syndrome" "" + "obsolete rare syndromic intellectual disability" "Rare syndromic intellectual disability." "True" "true" + "acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent" "Acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent is a subgroup of therapy-related myeloid neoplasms (t-MN), associated with a treatment of an unrelated neoplastic or autoimmune disease with cytotoxic agents, like cyclophosphamid, platins, melphalan and others. The neoplastic cells typically harbor unbalanced aberrations of chromosomes 5 and 7 (monosomy 5/del(5q) and monosomy 7/del(7q)) or a complex karyotype. It usually presents with multilineage dysplasia and cytopenias 5-10 years after exposure, with symptoms related to the degree of bone marrow failure and the corresponding cytopenia (fatigue, bleeding and bruising, recurrent infections, bone pain)." "" + "therapy related acute myeloid leukemia and myelodysplastic syndrome" "An acute myeloid leukemia secondary to a myelodysplastic syndrome or therapy-related. (WHO, 2001)" "" + "acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor" "Acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor represent a subgroup of therapy-related myeloid neoplasms (t-MN), associated with treatment of an unrelated neoplastic disease with cytotoxic agents, like etoposid, doxorubicin, daunorubicin and others. The neoplastic cells often show rearrangements involving the mixed lineage leukemia gene at 11q23. This subgroup of t-MN is typically associated with overt leukemia, without preceding myelodysplastic syndrome, developing 2-3 years after exposure, presenting with non-specific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement." "" + "acute myeloid leukemia with t(8;21)(q22;q22) translocation" "" + "arthrogryposis syndrome" "" + "chronic diarrhea due to glucoamylase deficiency" "This syndrome is characterised by chronic diarrhoea in infancy or childhood in association with intestinal glucoamylase deficiency." "" + "chronic diarrheal disease" "Chronic form of diarrheal disease." "" + "congenital enterocyte heparan sulfate deficiency" "Congenital enterocyte heparan sulphate deficiency is characterised by massive enteric protein loss, secretory diarrhoea, and intolerance to enteral feeds during the first few weeks of life." "" + "obsolete epithelio-exfoliative colitis-deafness syndrome" "This syndrome is characterised by the association of severe congenital colitis with sensorineural deafness." "" "true" + "obsolete autoimmune enteropathy type 2" "" "true" + "autoimmune enteropathy type 3" "" + "autoimmune pancreatitis" "Autoimmune pancreatitis (AIP) is a rare pancreatic disease characterized by chronic non-alcoholic pancreatitis that presents with abdominal pain, steatorrhea, obstructive jaundice and responds well to steroid therapy and is seen in two subforms: type 1 AIP which affects elderly males, involves other organs and has increased immunoglobin G4 (IgG4) levels and type 2 AIP which affects both sexes equally but presents at a younger age and has no other organ involvement or increased IgG4 levels." "" + "IgG4-related disease" "A recently described mass-forming lesion that occurs in the pancreas, submandibular glands, lacrimal glands, lymph nodes, and hepatobiliary tract. It is characterized by the presence of marked tissue sclerosis and infiltration by numerous plasma cells. The plasma cells show immunohistochemical staining for IgG4 and the serum IgG4 levels are often increased." "" + "undetermined colitis" "Underterminate colitis designates a rare inflammatory bowel disease that clinically resembles CrohnBs disease and ulcerative colitis but that cannot be diagnosed as one of them after examination of an intestinal resection specimen." "" + "congenital intestinal disease due to an enzymatic defect" "True" + "short bowel syndrome" "Short bowel syndrome is an intestinal failure due to either a congenital defect, intestinal infarction or extensive surgical resection of the intestinal tract that results in a functional small intestine of less than 200cm in length and is characterized by diarrhea, nutrient malabsoption, bowel dilation and dysmobility." "" + "obsolete rare disease involving intestinal motility" "True" "true" + "obsolete rare tumor of intestine" "Rare intestinal neoplasm." "True" "true" + "obsolete rare inflammatory bowel disease" "Rare inflammatory bowel disease." "True" "true" + "obsolete adenocarcinoma of small instestine" "An adenocarcinoma that arises from the small intestine. Histologic variants include mucinous adenocarcinoma and signet ring cell carcinoma." "" "true" + "obsolete leiomyosarcoma of small intestine" "" "true" + "myopathic intestinal pseudoobstruction" "" + "obsolete unclassified intestinal pseudoobstruction" "" "true" + "atresia of urethra" "Atresia of the urethra is a rare congenital bladder outlet obstruction, a fetal lower urinary tract obstruction (fetal LUTO), that is usually fatal. Unless there is some other egress for the urine to escape the bladder, such as patent urachus or anuro-rectal communication, these lesions are not compatible with renal development." "" + "vein of Galen aneurysm" "Vein of Galen aneurysm is a rare formof arteriovenous malformation in which the embryonic precursor to the vein of Galen, a vein at the base of the brain, dilates causing too much blood to rush to the heart. This can lead to rapid heart failure. Other features may include increased head circumference resulting from hydrocephalus, unusually prominent veins on the face and scalp, developmental delay, persistent headache, and other neurological findings. Vein of Galen aneurysm is often recognized on an ultrasound late in pregnancy. In other cases, it is diagnosed after birth. Although the exact cause remains unknown, this condition appears to result from a defect in early fetal development. Treatment is aimed at decreasing the blood flow through the malformation while maximizing the blood supply to the brain. Minimally invasive surgical techniques are preferred, such as endovascular embolization." "" + "aneurysm of sinus of Valsalva" "Sinus of Valsalva aneurysm (SVA) is a rare congenital heart malformation of one or more of the aortic sinuses, consisting of a dilation that when unruptured is usually asymptomatic but when ruptured presents with progressive exertional dyspnea, fatigue, chest pain and that can lead to congestive heart failure if left untreated." "" + "ascending aorta anomaly" "" + "aniridia-ptosis-intellectual disability-familial obesity syndrome" "Aniridia - ptosis - intellectual disability - familial obesity is an extremely rare syndrome described in three members of a family (a mother and her two children) that is characterized by the association of various ocular abnormalities (partial or complete aniridia, ptosis, pendular nystagmus, corneal pannus, persistent pupillary membrane, lenticular opacities, foveal hypoplasia, and low visual acuity) with various systemic anomalies including intellectual disability and obesity in the two children, and alopecia, cardiac abnormalities, and frequent spontaneous abortion in the mother. There have been no further descriptions in the literature since 1986." "" + "aniridia - intellectual disability syndrome" "Aniridia-intellectual disability syndrome is an extremely rare autosomal dominant developmental defect of the eye described in several members of one family that is characterized by the association of moderate intellectual disability with aniridia, lens dislocation, optic nerve hypoplasia and cataracts. There have been no further descriptions in the literature since 1974." "" + "anisakiasis" "Infection with roundworms of the genus anisakis. Human infection results from the consumption of fish harboring roundworm larvae. The worms may cause acute nausea; vomiting; or penetrate into the wall of the digestive tract where they give rise to eosinophilic granuloma in the stomach; intestines; or the omentum." "" + "ankyloblepharon filiforme-imperforate anus syndrome" "An extremely rare developmental defect during embryogenesis malformation syndrome characterized by bands of extensile tissue connecting the margins of the upper and lower eyelids, in association with anal atresia. Patients may additionally present cleft palate, hydrocephalus and meningomyelocele. There have been no further descriptions in the literature since 1993." "" + "obsolete babesiosis" "" "true" + "coronary artery congenital malformation" "" + "isolated lissencephaly type 1 without known genetic defects" "Isolated lissencephaly type 1 without known genetic defects belongs to the genetically heterogeneous group, classic lissencephaly. It is a diagnosis of exclusion, when neither associated malformations nor family history are present, and in the absence of mutations of genes known to be involved in classic lissencephaly. Clinically patients present with the common features of classic lissencephaly such as developmental delay, intellectual disability, and seizures." "" + "short stature-heart defect-craniofacial anomalies syndrome" "" + "esophageal malformation" "" + "gastroduodenal malformation" "" + "intestinal malformation" "" + "visceral malformation of the liver, biliary tract, pancreas or spleen" "" + "diaphragmatic or abdominal wall malformation" "" + "non-syndromic central nervous system malformation" "A central nervous system malformation that is not part of a larger syndrome." "" + "obsolete rare anemia" "Rare anemia." "True" "true" + "obsolete rare intoxication" "Any of the forms of poisoning that have a rare incidence." "True" "true" + "obsolete syndrome with limb malformations as a major feature" "True" "true" + "pentasomy X" "Pentasomy X is a sex chromosome anomaly caused by the presence of three extra X chromosomes in females (49,XXXXX instead of 46,XX)." "" + "polysomy of X chromosome" "True" + "pentasomy" "A chromosomal anomaly consisting of the presence of three chromosomes of the same type in addition to the normal diploid number." "" + "anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome" "Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome is a multiple congenital anomalies syndrome, reported in the offsprings of a consanguineous couple and characterized by multiple congenital skeletal (dolichocephaly, skull asymmetry, camptodactyly, clubfoot), muscular (muscle hypoplasia), ocular (anophthalmia, buphthalmos, retinal detachment, aniridia) and cardiac (prolapse of tricuspid valves, mitral and tricuspid insufficiency) abnormalities. An autosomal recessive inheritance with variable expressivity was suspected. There have been no further descriptions in the literature since 1992." "" + "radial deficiency-tibial hypoplasia syndrome" "" + "caudal appendage-deafness syndrome" "Caudal appendage-deafness syndrome is characterized by caudal appendage, short terminal phalanges, deafness, cryptorchidism, intellectual deficit, short stature and dysmorphism. It has been described in monozygotic twin boys." "" + "arachnodactyly-abnormal ossification-intellectual disability syndrome" "Arachnodactyly - abnormal ossification - intellectual disability is a multiple congenital developmental anomalies syndrome characterized by arachnodactyly of fingers and toes associated with craniofacial dysmorphism (including abnormal cranial ossification, frontal bossing, flat calvaria, shallow deformed orbits resulting in exophtalmos, midface hypoplasia and micrognathia), feeding difficulties in infancy, infantile muscular hypotonia, and developmental delay leading to intellectual disability." "" + "arachnodactyly-intellectual disability-dysmorphism syndrome" "Arachnodactyly-intellectual disability-dysmorphism syndrome is characterized by moderate intellectual deficit, brachycephaly, typical facies (thin lips and microstomia), ectomorphic habitus with extremely long, thin fingers and toes, and hypoplastic external genitalia. It has been described in three patients." "" + "aortic arch defects" "Congenital abnormalities of the aortic arch result from aberrant development of one or more components of the embyronic pharangeal arch system. Any component of tihs system can regress or persist abnormally, resulting in an extensive array of aortic arch anomalies. Clinically, they are classified by those that cause (or are likely to cause) physiolgogical abnormalities and those that do not. Physiologic abnormalities include tracheobronchial compression, esophageeal compression, and abnormal blood flow patteren." "" + "congenital anomaly of the great arteries" "" + "branchial arch disease" "A disease that involves the pharyngeal system development." "" + "arrhinia" "Arrhinia is an extremely rare, major congenital malformation consisting of an absence of the nose ranging from hyporrhinia (absence of external nasal structures) to total arrhinia (absence of external nose, nasal airways, olfactory bulbs, or olfactory nerve) often causing respiratory distress and requiring surgical correction. Arrhinia can be bilateral or unilateral (hemiarrhinia). Associated anomalies include ocular features (hypertelorism, microphthalmia, eyelid coloboma), facial clefts, midline defects and microtia." "" + "arrhinia-choanal atresia-microphthalmia syndrome" "Arhinia-choanal atresia-microphthalmia is a malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate." "" + "abnormal origin of the pulmonary artery" "" + "arthrogryposis-like syndrome" "Arthrogryposis-like syndrome, also known as Kuskokwim disease, is a very rare congenital contracture disorder, reported exclusively in Yup'ik Eskimos of the Kuskokwim River delta region of Alaska, characterized by multiple contractures of large joints (predominantly the knees and ankles) that present at birth or during childhood but are lifelong; deformities of the spine, pelvis and feet; and sometimes proximally or distally displaced patellae and muscle atrophy in the limbs with contractures. Additional radiological features include mild vertebral wedging, elongation of the vertebral pedicle, and clubbing of the distal clavicle. An autosomal recessive pattern of inheritance has been suggested." "" + "obsolete aspergillosis" "" "true" + "hereditary cerebellar ataxia" "Cerebellar ataxia that is transmitted from parent to child." "" + "ataxia with dementia" "True" + "obsolete rare intestinal disease" "Rare intestinal disease." "True" "true" + "anorectal malformation" "" + "opsoclonus-myoclonus syndrome" "Opsoclonus myoclonus syndrome (OMS) is a rare neuroinflammatory disease of paraneoplastic, parainfectious or idiopathic origin, characterized by opsoclonus, myoclonus, ataxia, and behavioral and sleep disorders." "" + "ataxia-photosensitivity-short stature syndrome" "Ataxia-photosensitivity-short stature syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by cerebellar-like ataxia, photosensitivity (mainly of the face and trunk), short stature and intellectual disability. Additonal features include clinodactyly, single palmar transverse crease, high-arched palate, pseudohypertrophy of the calves and aortic valve lesions. There have been no further descriptions in the literature since 1983." "" + "mitral atresia disorder" "A congenital heart defect characterized by the complete atresia of the mitral valve." "" + "spinal atrophy-ophthalmoplegia-pyramidal syndrome" "Spinal atrophy-ophthalmoplegia-pyramidal syndrome is a rare, bulbospinal muscular atrophy characterized by generalized neonatal hypotonia, progressive pontobulbar and spinal palsy, pyramidal signs, and deafness. External ophthalmoplegia and bilateral mydriasis are typical signs. There have been no further descriptions in the literature since 1994." "" + "obsolete balantidiasis" "" "true" + "severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome" "" + "blepharophimosis-radioulnar synostosis syndrome" "" + "blepharoptosis-cleft palate-ectrodactyly-dental anomalies syndrome" "" + "sino-auricular heart block" "" + "obsolete botulism" "" "true" + "brachydactyly-mesomelia-intellectual disability-heart defects syndrome" "Brachydactyly-mesomelia-intellectual disability-heart defects syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay, intellectual disability, thin habitus with narrow shoulders, mesomelic shortness of the arms, craniofacial dysmorphism (e.g. long lower face, maxillary hypoplasia, beak nose, short columella, prognathia, high arched palate, obtuse mandibular angle), brachydactyly (mostly involving middle phalanges) and cardiovascular anomalies (i.e. aortic root dilatation, mitral valve prolapse)." "" + "diphyllobothriasis" "Bothriocephalosis is a mammalian cosmopolitan intestinal parasitosis. In addition to non-specific digestive problems (nausea, abdominal pain, lack of appetite), bothriocephalosis provokes an anaemia caused by vitamin B12 deficiency that resembles Biermer anaemia (anaemia characterised by abnormally large red blood cells)." "" + "pseudopelade of Brocq" "Pseudo-pelade of Brocq is a rare hair abnormality characterized by onset in adulthood of soft, irregular, flesh-toned patches of alopecia primarily in the parietal and vertex portions of the scalp, without follicular hyperkeratosis or perifollicular inflammation." "" + "cryptogenic organizing pneumonia" "Cryptogenic organizing pneumonia (COP) is a form of idiopathic interstitial pneumonia characterized pathologically by organizing pneumonia (OP) that presents with non-specific flu-like symptoms, as well as cough and dyspnea and where no etiological agent is found." "" + "obsolete brucellosis" "" "true" + "medullary sponge kidney" "Medullary sponge kidney (MSK) is a birth defect of the tubules - tiny tubes inside the kidneys. In a normal kidney, urine flows through these tubules as it is being formed. In MSK, tiny sacs called cysts form in the medulla (the inner part of the kidney), creating a sponge-like appearance. The cysts keep urine from flowing freely through the tubules. MSK is present at birth but symptoms typically do not occur until adolescence or adulthood. Problems caused by MSK include blood in the urine, kidney stones, and urinary tract infections. MSK rarely leads to more serious problems, such as total kidney failure. There is no cure for this condition, so treatment is aimed at removing kidney stones and treating urinary tract infections with antibiotics." "" + "symmetrical thalamic calcifications" "Symmetrical thalamic calcifications are clinically distinguished by a low Apgar score, spasticity or marked hypotonia, weak or absent cry, poor feeding, and facial diplegia or weakness." "" + "butyrylcholinesterase deficiency" "Butyrylcholinesterase (BChE) deficiency is a metabolic disorder characterised by prolonged apnoea after the use of certain anaesthetic drugs, including the muscle relaxants succinylcholine or mivacurium and other ester local anaesthetics. The duration of the prolonged apnoea varies significantly depending on the extent of the enzyme deficiency." "" + "metabolic disease involving other neurotransmitter deficiency" "" + "idiopathic camptocormia" "Idiopathic camptocormia is a postural disease characterized by an anterior flexion of the torso (during walking or standing) that resolves in the supine position and that is caused by weakness of the lumbar paraspinal muscles (spinal extensors), due to massive fatty infiltrations of posterior spinal muscles, without an identifiable etiology." "" + "acquired skeletal muscle disease" "An instance of skeletal muscle disease that is acquired during the lifetime of the individual." "" + "camptodactyly-taurinuria syndrome" "Camptodactyly-taurinuria syndrome is a congenital malformation syndrome characterized by the association of a permanent camptodactyly of the fingers with the over excretion of taurine in the urine. Camptodactyly mainly affects the little finger, although any finger may be involved. The disease has been described in 17 affected patients from 4 unrelated families. An autosomal dominant inheritance has been suggested. There have been no further descriptions in the literature since 1966." "" + "complete atrioventricular canal" "Complete atrioventricular canal (CAVC), also referred to as complete atrioventricular septal defect, is characterized by an ostium primum atrial septal defect, a common atrioventricular valve and a variable deficiency of the ventricular septum inflow." "" + "chronic beryllium disease" "Chronic beryllium disease (CBD) is a granulomatous, interstitial lung disease that occurs in individuals who develop beryllium sensitization (BeS), a cell-mediated immune response to environmental and occupational beryllium exposure. BeS precedes the lung disease that may present with chronic dry cough, fatigue, weight loss, chest pain, and increasing dyspnea." "" + "partial atrioventricular canal" "Partial atrioventricular canal (PAVC) is a congenital heart malformation characterized by an atrial septal defect (ASD; ostium primum), clefts of mitral and occasionally tricuspid valves, two separate atrioventricular (AV) valve annuli and an intact ventricular septum. The typical symptoms of PAVC are impaired exercise capacity and exertional dyspnea." "" + "obsolete prostate cancer" "" "true" + "cardiomyopathy-cataract-hip spine disease syndrome" "Cardiomyopathy - cataract - hip spine disease describes the extremely rare triad of dilated cardiomyopathy, premature cataract, and articular disease of the hips and spine characterized by hip joint degeneration, irregular intervertebral disks, and platyspondyly. The ocular abnormalities are often the first symptoms to arise. There have been no further descriptions in the literature since 1985." "" + "maternally-inherited cardiomyopathy and hearing loss" "Maternally inherited cardiomyopathy and hearing loss is a mitochondrial disease described in two unrelated families to date that has a heterogeneous clinical presentation characterized by the association of progressive sensorineural hearing loss with hypertrophic cardiomyopathy and, in the majority of cases, encephalomyopathy symptoms such as ataxia, slurred speech, progressive external opthalmoparesis (PEO), muscle weakness, myalgia, and exercise intolerance." "" + "heart-hand syndrome type 2" "Heart-hand syndrome type 2 is an extremely rare heart-hand syndrome described in two families to date, that is characterized by upper limb malformations (brachytelephalangy type D, hypoplastic deltoids, mild shortening of the fourth and fifth metacarpals in some individuals, skeletal anomalies in the humerus, radius, ulnae, and thenar bones) and cardiac arrhythmias (junctional rhythms and atrial fibrillation)." "" + "mesenchymatous palpebral tumor" "" + "disorder of glycosylation" "A disease that has its basis in the disruption of glycosylation." "" + "obsolete vulvar intraepithelial neoplasia" "" "true" + "herpes simplex virus keratitis" "A superficial, epithelial Herpesvirus hominis infection of the cornea, characterized by the presence of small vesicles which may break down and coalesce to form dendritic ulcers (keratitis, dendritic). (Dictionary of Visual Science, 3d ed)" "" + "infectious epithelial keratitis" "Infectious epithelial keratitis is a rare, potentially sight-threatening, acquired ocular disease chracterized by corneal epithelium inflammation resulting from viral (mainly Herpes Simplex virus), bacterial, fungic or protist infection, manifesting with variable symptoms, such as conjunctival hyperemia, lacrimation, rapid onset of pain, blurred vision and/or photophobia, depending on the causative agent." "" + "neurotrophic keratopathy" "Neurotrophic keratopathy is a rare degenerative disease of the cornea characterized by reduction or loss of corneal sensitivity that can be asymptomatic or present with red-eye and, during the early stages of the disease, a minor decrease in visual acuity. It eventually leads to loss of vision." "" + "stromal keratitis" "Herpes simplex (HSV) stromal keratitis is an infectious ocular disease of either necrotizing or non-necrotizing form, due to an HSV infection, and characterized by corneal stromal necrosis, inflammation, ulceration and infiltration by leukocytes. Corneal perforation and blindness can also occur in severe cases." "" + "endotheliitis" "An inflammatory disease involving a pathogenic inflammatory response in the endothelium." "" + "segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome" "Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome is a rare, genetic, polymalformative syndrome characterized by progressive, proportionate, asymmetric segmental overgrowth (with soft tissue hypertrophy and ballooning effect) that develops and progresses rapidly in early childhood, arteriovenous and lymphatic vascular malformations, lipomatosis and linear epidermal nevus (arranged in whorls along the lines of Blaschko). Clinical symptoms of Cowden syndrome, such as macrocephaly and progressive development of numerous hypertrophic hamartomatous and neoplastic lesions involving multiple organs and systems, are also associated. Patients present an increased risk of developing cancer." "" + "nephrogenic systemic fibrosis" "Nephrogenic systemic fibrosis (NSF) is a rare systemic fibrosing condition observed in renally impaired patients and characterized by a hardening and thickening of the skin with fibrotic plaques or papules, pruritus, joint pain and stiffness, muscle weakness, limitation of range of motion, and yellowed eyes. It is generally associated with administration of gadolinium-based magnetic resonance imaging contrast agents (GBCA) in patients with kidney disease." "" + "intractable diarrhea-choanal atresia-eye anomalies syndrome" "Intractable diarrhea-choanal atresia-eye anomalies syndrome is characterised by the association of intractable diarrhoea of infancy with choanal atresia. Short stature, a prominent and broad nasal bridge, micrognathia, single palmar creases, chronic corneal inflammation, cytopenia, and abnormal hair texture were also reported. So far, the syndrome has been described in three children from the same family. The absence of intellectual deficit and immune deficiency allow this syndrome to be distinguished from other forms of intractable diarrhoea of infancy described previously." "" + "cardiac anomalies-heterotaxy syndrome" "Cardiac anomalies-heterotaxy syndrome is characterised by non-compaction of the ventricular myocardium, bradycardia, pulmonary valve stenosis, and secundum atrial septal defect. Laterality sequence anomalies are also present. So far, the syndrome has been described in nine members from three generations of the same family. Transmission is autosomal dominant and linkage to chromosome 6p24.3-21.2 was reported." "" + "obsolete microcephaly-digital anomalies-intellectual disability syndrome" "" "true" + "pellucid marginal degeneration" "" + "Asherman syndrome" "" + "amyloidosis" "A disorder characterized by the localized or diffuse accumulation of amyloid protein in various anatomic sites. It may be primary, due to clonal plasma cell proliferations; secondary, due to long standing infections, chronic inflammatory disorders, or malignancies; or familial. It may affect the nerves, skin, tongue, joints, heart, liver, spleen, kidneys and adrenal glands." "" + "nodular cutaneous amyloidosis" "Primary localized cutaneous nodular amyloidosis (PLCNA) is the most rare form of primary cutaneous amyloidosis, a skin disease characterized by the accumulation of amyloid deposits in the dermis, characterized clinically by yellowish waxy crusted nodules and papules on the face, lower extremities, trunk, scalp, and genitalia and histologically by the localized deposition of immunoglobulin-derived amyloid in the papillary dermis and subcutis. PLCNA can be associated with connective tissue disorders such as SjC6grenBs syndrome and CREST syndrome." "" + "macular amyloidosis" "Macular amyloidosis (MA) is a rare chronic form of cutaneous amyloidosis, a skin disease characterized by the accumulation of amyloid deposits in the dermis, clinically characterized by pruritic hyperkeratotic gray-brown macules that give a rippled or reticulated pattern of pigmentation usually in the upper back and extensor sites of arms, forearms and legs, and histologically by the deposition of amyloid in the upper dermis and close to the basal cell layer of the epidermis. MA is commonly associated with other skin diseases, such as atopic dermatitis." "" + "obsolete rare endometriosis" "Rare endometriosis." "True" "true" + "Lemierre syndrome" "Lemierre syndrome is a rare, potentially lethal, oropharyngeal infectious disease occurring in immunocompetent adolescents and young adults that is mainly due to Fusobacterium necrophorum and that is characterized by septic thrombophlebitis of the internal jugular vein that leads to septic, usually pulmonary, embolism, associated with ENT (ear, nose, and throat) infection that manifests with fever, neck pain, and tonsillopharyngitis." "" + "Madras motor neuron disease" "Madras motor neuron disease (MMND) is characterized by weakness and atrophy of limbs, multiple lower cranial nerve palsies and sensorineural hearing loss." "" + "laminopathy type Decaudain-Vigouroux" "Laminopathy, type Decaudain-Vigouroux is characterised by severe metabolic alterations (insulin resistance or hyperinsulinaemia, hypertriglyceridaemia with low HDL-cholesterol, and altered glucose tolerance) and muscular hypertrophy, myalgia, or weakness." "" + "obsolete Auriculocondylar syndrome" "" "true" + "autism-facial port-wine stain syndrome" "This syndrome is characterised by the presence of a unilateral angioma on the face and autistic developmental problems characterised by language delay and atypical social interactions." "" + "choanal atresia, unilateral" "Unilateral choanal atresia is a, usually sporadic, congenital anomaly that is more commonly seen in females than in males (2:1), where the nose is blocked by bony or soft tissue formed during embryologic development on only one side (more commonly on the right side) and which is characterized by nasal obstruction and rhinorrhea, usually presenting at birth but that may go undetected until a respiratory infection aggravates the condition." "" + "choanal atresia, bilateral" "Bilateral choanal atresia is a congenital anomaly that is usually sporadic (but some familial cases have been reported), is more commonly seen in females than in males (2:1), and where the nose is blocked on both sides by bony or soft tissue formed during embryological development. It is characterized by respiratory distress relieved by crying and rhinorrhea that presents at birth." "" + "primary laryngeal lymphangioma" "Primary laryngeal lymphangioma is a rare, benign, congenital malformation of the lymphatic system characterized by a polypoidal, variable-sized, soft tissue mass located in the larynx. Most lesions manifest by the 2nd year of life and, depending on the size, patients may present with changes in voice, dysphagia, stridor, airway obstruction and/or respiratory distress. Cystic hygroma of the neck is frequently associated." "" + "neonatal brainstem dysfunction" "Neonatal brainstem dysfunction is a rare neurologic disease characterized by the association of suction-swallowing dysfunction, abnormal laryngeal sensitivity and motility (manifesting with dyspnea or obstructive apnea-hypopnea), gastroesophageal reflux (generally resistant to medication) and cardiac vagal overactivity (e.g. brachycardia, vasovagal episodes) of varying degrees of severity. Impaired social interaction has also been reported." "" + "congenital laryngeal palsy" "Congenital laryngeal palsy is a rare larynx anomaly characterized by unilateral or bilateral paralysis of the vocal cords as a result of dysfunction of the motor nerve supply to the larynx. Patients typically present at birth (or shortly thereafter) with stridor, weak or breathy cry, dysphonia or aphonia, feeding or aspiration difficulties and, occasionally, respiratory compromise. Neurological disease, masses that cause compression and aberrant vessels are often associated. Most cases resolve spontaneously over 6-12 months." "" + "laryngotracheal angioma" "" + "obsolete Pierre Robin syndrome associated with collagen disease" "" "true" + "obsolete rare disease with Pierre Robin syndrome" "True" "true" + "obsolete Pierre Robin syndrome associated with a chromosomal anomaly" "" "true" + "obsolete Pierre Robin syndrome associated with branchial archs anomalies" "" "true" + "obsolete Pierre Robin syndrome associated with bone disease" "" "true" + "cataract-intellectual disability-anal atresia-urinary defects syndrome" "Cataract-intellectual disability-anal atresia-urinary defects syndrome is characterised by congenital cataracts with squint, intellectual deficit, anomalies of the genitourinary tract (rectovesical fistula, micropenis, undescended testis, and hypospadias), imperforate anus and other anomalies." "" + "cataract-deafness-hypogonadism syndrome" "Cataract-deafness-hypogonadism syndrome is an extremely rare multiple congenital abnormality syndrome, described in only three brothers to date, that is characterized by the association of congenital cataract, sensorineural deafness, hypogonadism, mild intellectual deficit, hypertrichosis, and short stature. There have been no further descriptions in the literature since 1995." "" + "night blindness-skeletal anomalies-dysmorphism syndrome" "This syndrome is characterized by night blindness, skeletal abnormalities (sloping shoulders, joint hyperextensibility, minor radiological anomalies) and characteristic facies (periorbital anomalies, malar flatness, retrognathia)." "" + "obsolete rare bone development disorder" "Any of the forms of bone development disease that have a rare incidence." "True" "true" + "overgrowth/obesity syndrome" "" + "malformation syndrome with skin/mucosae involvement" "True" + "obsolete rare developmental defect with connective tissue involvement" "True" "true" + "adrenomyeloneuropathy" "An adult form of the peroxisomal disease X-linked adrenoleukodystrophy (X-ALD), characterized by spastic paraparesia and often associated with peripheral adrenal insufficiency in males. Both males and females can be affected with AMN." "" + "drug rash with eosinophilia and systemic symptoms" "DRESS syndrome (Drug Rash with Eosinophilia and Systemic Symptoms) is a hypersensitivity reaction characterized by a generalized skin rash, fever, eosinophilia, lymphocytosis and visceral involvement (hepatitis, nephritis, pneumonitis, pericarditis and myocarditis) and, in some patients, reactivation of human herpes virus 6." "" + "toxic dermatosis" "" + "congenital panfollicular nevus" "Congenital panfollicular nevus is a rare, benign, skin tumor disorder characterized by the presence of congenital, large (few centimeters), elevated, well-circumscribed, pink-tan, multinodular, non-ulcerative, bosselated-surface skin lesions located on the neck, scalp or hand and which enlarge with time. Histologically, hamartomatous proliferation containing irregularly arranged, malformed hair follicles in various stages of development, surrounded by fibrous tissue and densely distributed within the dermis is observed." "" + "acute transverse myelitis" "Acute transverse myelitis (ATM) is an inflammatory demyelinating disorder of the spinal cord that can be either idiopathic (IATM) or secondary to a known cause (SATM)." "" + "secondary acute transverse myelitis" "Secondary acute transverse myelitis (ATM) is characterized by focal inflammation within the spinal cord due to a known cause, usually an inflammatory disease." "" + "idiopathic acute transverse myelitis" "Idiopathic acute transverse myelitis (ATM) is an immune-mediated inflammatory demyelinating disorder of the spinal cord with motor, sensory and autonomic involvement." "" + "perioral myoclonia with absences" "Perioral myoclonia with absences is a rare epilepsy syndrome characterized by absence seizures with perioral myoclonia as the main seizure type, accompanied by generalized tonic-clonic seizures, appearing before or together with absences. Consciousness is usually impaired, although to variable degree. Commonly observed absence status epilepticus, poor response to antiepileptic drugs and persistence of seizures into adulthood, in the presence of normal neurological status and intelligence, are additional clinical features of this syndrome." "" + "Jeavons syndrome" "Jeavons syndrome is an idiopathic generalized form of reflex epilepsy characterized by childhood onset, unique seizure manifestations, striking light sensitivity, and possible occurrence of generalized tonic-clonic seizures." "" + "multicentric reticulohistiocytosis" "Multicentric reticulohistiocytosis (MRH) is a rare non-Langerhans cell histiocytosis characterized by the association of specific nodular skin lesions and destructive arthritis." "" + "leukoencephalopathy with bilateral anterior temporal lobe cysts" "Leukoencephalopathy with bilateral anterior temporal lobe cysts is a nonprogressive neurological disorder marked by intellectual deficit, spasticity and motor retardation associated with characteristic MRI findings of anterior bilateral temporal lobe cysts and multilobar leukoencephalopathy. So far, around 30 cases have been reported in the literature. Onset occurs in the first few months of life. Sensorineural deafness and microcephaly have also been reported. The etiology is unknown but an autosomal recessive mode of inheritance has been suggested." "" + "progressive cavitating leukoencephalopathy" "Progressive cavitating leukoencephalopathy is characterized by acute episodes of neurological deficit (ataxia, dysarthria, seizures) with irritability and opisthotonus followed by either steady deterioration or alternating periods of rapid progression and prolonged periods of stability." "" + "17q11.2 microduplication syndrome" "17q11.2 microduplication syndrome is characterized by dysmorphic features and intellectual deficit." "" + "neuropathy with hearing impairment" "This syndrome is characterized by the association of sensorineural hearing impairment and peripheral neuropathy." "" + "hereditary sensory and autonomic neuropathy with deafness and global delay" "This syndrome is characterized by a sensory and autonomic axonal neuropathy, sensorineural hearing loss and persistent global developmental delay." "" + "secondary hypoparathyroidism due to impaired parathormon secretion" "" + "demyelinating hereditary motor and sensory neuropathy" "" + "axonal hereditary motor and sensory neuropathy" "" + "distal hereditary motor neuropathy" "" + "Charlie M syndrome" "Charlie M syndrome is a rare bone developmental disorder which belongs to a group of oromandibular limb hypogenesis syndromes that includes hypoglossia-hypodactyly and glossopalatine ankylosis. The major anomalies which occur commonly in this group are hypoplasia of the mandible, syndactyly and ectrodactyly, small mouth, cleft palate, hypodontia, and facial paralysis. Patients with Charlie M syndrome also present with hypertelorism, absent or conically crowned incisors, and variable degrees of hypodactyly of the hands and feet. There have been no further descriptions in the literature since 1976." "" + "" "true" + "linear atrophoderma of Moulin" "Linear atrophoderma of Moulin (LAM) is characterized by mildly atrophic and hyperpigmented band-like lesions that follow the lines of Blaschko on the trunk or limbs. Since its initial description in 1992, less than 30 cases have been reported in the literature. Onset occurs during childhood or adolescence and the disease is non-progressive. There is no prior inflammation or subsequent scleroderma. The aetiology is unknown but as LAM follows the lines of Blaschko it has been suggested that the disease is caused by mosaicism of a predisposing gene." "" + "obsolete Saldino-Mainzer syndrome" "" "true" + "primary central nervous system vasculitis" "" + "oromandibular-limb anomalies syndrome" "" + "first branchial cleft anomaly" "" + "third branchial cleft anomaly" "" + "fourth branchial cleft anomaly" "" + "cervical dermoid cyst" "Cervical dermoid cyst is a rare, benign cutaneous neoplasm containing keratinized epithelium and dermal derivatives, such as hair follicles, sweat and sebaceous glands, smooth muscle or fibroadipose tissue which usually manifests as a slow-growing, painless mass in the submandibular or sublingual space. Depending on the location, and especially after sudden enlargement, it can cause dyspnea, dysphagia or dysphonia." "" + "commissural lip fistula" "A cysts and fistulae of the face and oral cavity that involves the labial commissure." "" + "lower lip fistula" "A cysts and fistulae of the face and oral cavity that involves the lower lip." "" + "cervicofacial fibrochondroma" "" + "digestive duplication cyst of the tongue" "Digestive duplication cyst of the tongue is an extremely rare otorhinolaryngological malformation which occurs during early embryogenesis and is characterized by a single, and on occasion multiple, cystic lesion that is most frequently located in the anterior portion of the tongue, either deeply embedded within it or superficially on it. Depending mostly on size and location of the cyst, patients could be asymptomatic or could present a wide array of symptoms, such as varying degrees of respiratory and feeding difficulties, lingual swelling and protrusion, dysphagia, and more rarely, recurrent bleeding or brownish discharge from a lingual sinus." "" + "epignathus" "Epignathus is a very rare and life threatening intraoral teratoma, usually arising from the maxilla, mandible, palate or base of skull and invading the cranium, nasopharynx or oral cavity. Epignathus is more commonly seen in females, and presents with various manifestations (depending on the tumor size) including obstructive polyhydramnios in the prenatal period and dyspnea, cyanosis, cough, difficulty in sucking and swallowing, and rarely vomiting (due to swallowing difficulties) postnatally. When large, they can lead to airway obstruction, asphyxia and death in the neonatal period." "" + "nasolacrimal duct cyst" "Nasolacrimal duct cyst describes a unilateral or bilateral congenital cyst of the nasolacrimal duct, which is almost always associated with dacryocystocele, presenting most commonly at birth or a few weeks of age (but rarely presenting in adulthood) as a benign, grayish blue mass in the inferomedial canthus or in the nasal cavity, that can cause epiphora, dacryocystitis (inflammation of the lacrimal sac) and nasal obstruction. It is more commonly reported in females." "" + "polyrrhinia" "Polyrrhinia is an extremely rare, major congenital malformation characterized by complete duplication of the nose resulting in twofully developed noses often associated with choanal atresia, causing respiratory distress and necessitating surgical repair." "" + "supernumerary nostril" "Supernumerary nostril is an extremely rare congenital malformation characterized by the presence of one or more accessory nostrils, with or without accessory cartilage, located medially, above, below or laterally to the other nostrils. Unlike in polyrhinia there is no duplication of the nasal septum/cavity. Supernumerary nostril is often associated with other congenital malformations usually of face." "" + "proboscis lateralis" "Proboscis lateralis (PL) is a rare congenital facial abnormality characterized by failed development of the external nose on one side that is replaced by a tubular structure composed of skin and soft tissue usually attached at the inner canthus of the eye and therefore often associated with maldevelopment of the nasal cavity or paranasal sinuses of the affected side. PL is also associated with other craniofacial abnormalities such as orbital anomalies, cleft lip/palate, frontal encephalocele and holoprosencephaly." "" + "nasopharyngeal teratoma" "A teratoma that involves the nasopharynx." "" + "nasal glial heterotopia" "Nasal glial heterotopia is a rare developmental abnormality presenting usually at birth or in early childhood (rarely in adulthood) as a benign, non-pulsatile mass that can lead to nasal obstruction, deformation of the septum and nasal bone, and respiratory distress if untreated. Nasal glial heterotopias have no communication with the central nervous system; however an associated defect in the cribriform plate is sometimes reported." "" + "nasal ganglioglioma" "Nasal ganglioglioma is a rare tumor, presenting in newborns, containing both neuronal and astrocytic components and that can be endonasal, extranasal or both. It is usually identified as a nasal mass that may cause feeding difficulties and nasal obstruction." "" + "ganglioglioma" "A well differentiated, slow growing neuroepithelial neoplasm composed of neoplastic, mature ganglion cells and neoplastic glial cells. Some gangliogliomas show anaplastic features in their glial component and are considered to be WHO grade III. Rare cases of newly diagnosed gangliogliomas with grade IV (glioblastoma) changes in the glial component have also been reported. (Adapted from WHO)" "" + "nasal encephalocele" "Nasal encephalocele is an extracranial herniation of intracranial contents (that maintain a connection to the subarachnoid space) into the fonticulus frontalis, presenting with nasal broadening and/or as a compressible, blue, pulsatile mass near the nasal bridge (that enlarges on crying or with jugular vein compression) or as an intranasal mass originating in the cribiform plate and that can cause nasal obstruction or respiratory distress. Hydrocephalus and increased intracranial pressure are also reported in some cases." "" + "isolated encephalocele" "Brain tissue herniation through a congenital or acquired defect in the skull. The majority of congenital encephaloceles occur in the occipital or frontal regions. Clinical features include a protuberant mass that may be pulsatile. The quantity and location of protruding neural tissue determines the type and degree of neurologic deficit. Visual defects, psychomotor developmental delay, and persistent motor deficits frequently occur." "" + "congenital subglottic stenosis" "" + "congenital laryngeal cyst" "Congenital laryngeal cyst is a rare larynx anomaly characterized by a cyst involving the larynx or supraglottis locations, such as the epiglottis and vallecula. Timing and severity of presentation depend on the size of the cyst and its proximity to the glottis and range from severe prenatal airway obstruction leading to polyhydramnios and pulmonary hypoplasia to postnatal inspiratory stridor associated with muffled cry, hoarseness and cyanotic episodes, and to feeding difficulties and failure to thrive. It can be associated with laryngomalacia." "" + "otomandibular dysplasia" "" + "hemifacial microsomia" "" + "glossopalatine ankylosis" "Glossopalatine ankylosis is a disorder belonging to the group of oromandibular-limb hypogenesis syndromes (OLHS) and is characterised by the presence of an intraoral band of variable thickness attaching the tongue to the hard palate or maxillary alveolar ridge." "" + "frontonasal arteriovenous malformation" "Frontonasal arteriovenous malformation is a rare vascular anomaly characterized by abnormal communication between arteries and veins, bypassing the capillary bed, located in the frontonasal area. It may present with intermittent nasal bleeding, blurred vision, pustule formation and/or disfigurement. Overlying skin may be of normal appearance or may manifest a red, pulsatile mass with local rise of temperature. Other features may include pain, ulceration, excessive growth and/or congestive heart failure." "" + "facial arteriovenous malformation" "Facial arteriovenous malformation is a rare vascular anomaly characterized by abnormal communication between arteries and veins, bypassing the capillary bed, located in the facial area. Lesions may be asymptomatic or may manifest with pain, ulceration, pulsation, tinnitus, minor bleeding or potentially life-threatening hemorrhage, blurred vision, impaired hearing, headache, paresthesia, enlargement of facial bones with intraosseous lesions, intraosseous hemangiomas, and speech, breathing and swallowing difficulties, as well as neuropathy." "" + "maxillary arteriovenous malformation" "Maxillary arteriovenous malformation is a rare vascular anomaly characterized by an abnormal connection of the arterial and venous vasculature, without capillary connections, in the maxillofacial area, usually presenting with chronic, intermittent, and potentially life-threatening, hemorrhage. Association with infection, pain, pressure, pulsation, swelling, facial asymmetry, headache, ocular pain, tinnitus, otalgia, epistaxis, toothache and/or teeth mobility and compressibility into their sockets is possible, although it may also be asymptomatic." "" + "mandibular arteriovenous malformation" "Mandibular arteriovenous malformation is a rare vascular anomaly characterized by an abnormal connection of the arterial and venous vasculature, without capillary connections, in the mandibular area, commonly presenting with minor gingival bleeding, dental loosening, lower lip numbness, facial deformity and malocclusion. This usually high-flow vascular malformation may also present with potentially life-threatening, spontaneous, or tooth extraction-induced, hemorrhagic shock." "" + "non-involuting congenital hemangioma" "Non-involuting congenital hemangioma (NICH) is a rare type of infantile hemangioma, which is a tumor that forms from the abnormal growth of blood vessels in the skin. NICH looks like an oval,purplish mark or bump that can occur on any part of the body. NICH is present from birth (congenital) and increases in size as the child grows. Unlike other hemangiomas, NICH do not disappear spontaneously (involute)." "" + "rapidly involuting congenital hemangioma" "Rapidly involuting congenital hemangiomas (RICH) are a distinctive type of congenital hemangioma that are fully formed in utero and differ from non-involuting congenital haemangiomas (NICH) mainly because they undergo rapid postnatal involution." "" + "cerebrofacial arteriovenous metameric syndrome" "A disorder characterized by vascular malformations that encompasses a spectrum of phenotypic expression involving arteriovenous malformations (AVMs) of the cerebral, orbital, and facial region." "" + "cerebrofacial arteriovenous metameric syndrome type 1" "" + "cerebrofacial arteriovenous metameric syndrome type 3" "" + "diffuse lymphatic malformation" "" + "isolated congenital syngnathia" "Isolated congenital syngnathia is a very rare developmental defect during embryogenesis characterized by varying degrees of congenital fusion (ranging from simple mucosal adhesions to extensive bony fusion) of mandible to maxilla that is not associated with any other malformations. Patients present with mouth opening limitation (which could range from severe to minimal restriction) that typically results in feeding, swallowing and/or respiratory difficulties which may lead to failure to thive, malnutrition and/or temporomandibular joint ankylosis." "" + "nasal dorsum fistula/cyst" "" + "facial cleft" "A congenital abnormality consisting of an opening or gap in the face, which results from incomplete fusion of one or more of the embryonic facial prominences." "" + "median cleft of the upper lip and maxilla" "Median cleft of the upper lip and maxilla is a rare, congenital, developmental defect during embryogenesis characterized by a midline vertical cleft through the upper lip and premaillary bone (can also involve the nasal septum and central nervous system). The phenotypic spectrum is highly variable (ranging from a simple vermillion notch to a wide complete cleft) and hypo/hypertelorism, telecanthus, monophthalmia, flat or cleft nose, wide columella, median alveolar cleft and cranial malformations may be associated." "" + "paramedian nasal cleft" "Paramedian nasal cleft is a rare developmental defect during embryogenesis characterized by a unilateral or bilateral coloboma of the nose, ranging in severity from a small notch, resulting in minor deviation of the nasal septum, to variable-sized clefts of the nasal ala which may be associated with small cysts or sinuses in the nasal midline. Defect may be isolated or may occur in association with cleft lip and/or other craniofacial anomalies (e.g. hypertelorism, broadening of nasal root, midline cleft). Dorsum and apex of nose are usually well preserved." "" + "paramedian facial cleft" "" + "Tessier number 5 facial cleft" "" + "Tessier number 6 facial cleft" "" + "midline cervical cleft" "Midline cervical cleft (MCC) is a rare congenital anomaly characterized by the presence at birth of a vertical, atrophic and usually erythematous skin defect, lacking adnexal elements in the midline of the neck that may be attached to a subcutaneous fibrous cord of variable length; a superior skin tag; and an inferior, short (usually about 1 cm in length) sinus (possibly with presence of discharge). If untreated (by surgical removal) complications include restriction of neck extension due to contracture and scarring. It is sometimes associated with other developmental defects such as bifid mandible, thyroglossal duct and branchial cysts, and microgenia." "" + "cleft lip with or without cleft palate" "" + "orofaciodigital syndrome type 12" "Orofaciodigital syndrome type 12 is a rare subtype of orofaciodigital syndrome, with sporadic occurrence, characterized by cardiac (septum hypertrophy) and central nervous system abnormalities (myelomeningocele, Sylvius aqueduct stenosis, corpus callosum agenesis, vermis hypoplasia), in addition to oral, facial and digital malformations (gingival frenulae, bifid tongue, supernumerary teeth, macrocephaly, hypertelorism, pre- and post-axial polydactyly in hands, preaxial polydactyly in feet and club feet). Skeletal anomalies, such as short tibiae and central, Y-shaped metacarpals, are also associated." "" + "orofaciodigital syndrome type 13" "Orofaciodigital syndrome type 13 is a rare subtype of orofaciodigital syndrome, with sporadic occurrence, characterized by cardiac (mitral and tricuspid valve dysplasia) and neuropsychiatric manifestations (epilepsy, depression), in addition to oral, facial and digital malformations (lingual hamartomas, cleft lip, and brachydactyly, clinodactyly, syndactyly of hands and feet). Leukoaraiosis, on brain MRI examination, is also associated." "" + "obsolete anaplastic thyroid carcinoma" "Anaplastic thyroid carcinoma may represent the ultimate dedifferentiation step of thyroid tumorigenesis and is one of the most severe cancers in humans." "" "true" + "lethal chondrodysplasia, Moerman type" "" + "lethal recessive chondrodysplasia" "Lethal recessive chondrodysplasia is an extremely rare lethal form of chondrodysplasia characterized by severe micromelic dwarfism, short and incurved limbs with normal hands and feet, facial dysmorphism (disproportionately large skull, frontal prominence, slightly flattened nasal bridge and short neck), muscular hypotonia, hyperlaxity of the extremities, and a narrow thorax. Most patients die of respiratory distress during the first hours or weeks of life. There have been no further descriptions in the literature since 1988." "" + "chondrodysplasia" "" + "choroidal atrophy-alopecia syndrome" "Choroidal atrophy - alopecia is a very rare ectodermal dysplasia syndrome, characterized by the association of choroidal atrophy (sometimes regional), together with other ectodermal dysplasia features including fine and sparse hair, absent or decreased lashes and eyebrows, and possibly mild visual loss and dysplastic/thick/grooved nails." "" + "choroideremia-hypopituitarism syndrome" "" + "ring chromosome 1" "Ring chromosome 1 syndrome is an autosomal anomaly characterized by variable clinical features, most commonly including significant intrauterine and postnatal growth failure, developmental delay, intellectual disability, microcephaly, and dysmorphic facial features. Some less frequent clinical features are dysgenesis of corpus callosum, atrial septal defect, rocker bottom feet and clinodactyly." "" + "chromosome 1 disorder" "Chromosomal disorder in which chromosome 1 is affected." "" + "ring chromosome 10" "Ring chromosome 10 syndrome is characterized by intellectual deficit, growth retardation, and various dysmorphic features. Less than 20 cases have been described. The main features are low birth weight, microcephaly, stubby nose with a prominent nasal bridge, hypertelorism, strabismus, wide-set nipples, single transverse palmar creases, and clinodactyly. Boys have undescended testes and hypoplastic scrotum. Congenital heart disease, hydronephrosis or renal hypoplasia was present in some of the cases." "" + "chromosome 10 disorder" "Chromosomal disorder in which chromosome 10 is affected." "" + "ring chromosome 12" "Ring chromosome 12 syndrome is a rare chromosomal anomaly syndrome with a highly variable phenotype principally characterized by postnatal growth retardation, variable degrees of developmental delay and intellectual disability, microcephaly and facial dysmorphism (incl. epicanthal folds, low-set, cupped ears, prominent nose with flat nasal bridge, high arched palate, micrognathia). Skeletal abnormalities (e.g. pectus excavatum, clinodactyly), congenital heart malformations, cryptorchidism, café-au-lait spots and epilepsy have also been reported." "" + "chromosome 12 disorder" "Chromosomal disorder in which chromosome 12 is affected." "" + "ring chromosome 17" "Ring chromosome 17 syndrome is a rare chromosomal anomaly syndrome, resulting from partial deletion of chromosome 17, characterized by highly variable manifestations, ranging from a severe phenotype which presents with lissencephaly and severe intellectual disability to a milder phenotype that includes short stature, microcephaly, intellectual disability, seizures (that may be pharmacoresistant), café-au-lait spots, retinal flecks and minor facial dysmorphism, depending on the presence or absence of the Miller-Dieker critical region." "" + "chromosome 17 disorder" "Chromosomal disorder in which chromosome 17 is affected." "" + "ring chromosome 18" "Ring chromosome 18 syndrome is an autosomal anomaly characterized by variable clinical features, most commonly including hypotonia, neonatal feeding and respiratory difficulties, microcephaly, global developmental delay and intellectual disability, growth hormone deficiency, hypothyroidism, hearing loss, aural atresia, dysmorphic facial features and behavioral characteristics." "" + "ring chromosome 19" "Ring chromosome 19 syndrome is a rare chromosomal anomaly syndrome with a highly variable phenotype that may range from normal to patients with profound intellectual disability, developmental delay, learning disability (esp. speech) and mild dysmorphism (incl. micro/macrocephaly, prominent forehead, low-set and posteriorly rotated ears, hypertelorism, high nasal bridge, prominent philtrum, retro/micrognathia). Mild hypotonia and autistic-like mannerisms (e.g. hand opening and closing, head banging) may also be associated. Other anomalies, such as cutis laxa, hearing loss, syndactyly, digital hypoplasia, and talipes equinovarus, have also been reported." "" + "chromosome 19 disorder" "Chromosomal disorder in which chromosome 19 is affected." "" + "ring chromosome 20" "Ring chromosome 20 syndrome is marked by a characteristic seizure phenotype. Depending on the amount of chromosomal loss and associated mosaicism, ring(20) can be associated with macrocephaly, mild to moderate intellectual deficit, or behavioural problems. In rare cases, brain, kidney or heart malformations may be present." "" + "chromosome 20 disorder" "Chromosomal disorder in which chromosome 20 is affected." "" + "ring chromosome 21" "Ring chromosome 21 syndrome is an autosomal anomaly characterized by variable clinical features, most commonly including growth retardation, developmental delay, intellectual disability, epilepsy, microcephaly, short stature, dysmorphic features, hypogammaglobulinemia, thrombocytopenia and unspecific skeletal anomalies (hemivertebrae, clinodactyly, syndactyly). In rare cases, it has been described in phenotypically normal individuals." "" + "ring chromosome 22" "Ring chromosome 22 is a rare condition caused by having an abnormal chromosome 22 that forms a ring. In this chromosome abnormality,a segment on the short (p) arm and a segment on the long (q) arm of 22 are missing. The amount of material lost varies from person to person. The remaining ends of chromosome 22 have joined together to make a ring shape. Chromosome 22 is an acrocentric chromosome, meaning that the centromere is near one end, creating a very small short (p) arm that does not contain genes that are relevant to development. Thus, only the lost genes on the long (q) arm matter. Knowing the breakpoint in the long arm is likely more helpful. Most cases are sporadic (happen by chance) and occur in people with no history of the condition in their family." "" + "chromosome 22 disorder" "Chromosomal disorder in which chromosome 22 is affected." "" + "ring chromosome 4" "Ring chromosome 4 syndrome is an autosomal anomaly characterized by variable clinical features, most commonly including significant intrauterine and postnatal growth retardation, developmental delay, intellectual disability, microcephaly, and dysmorphic facial features. Some less frequent features are cleft lip and/or cleft palate, congenital cardiovascular, gastrointestinal and genitourinary system anomalies." "" + "chromosome 4 disorder" "Chromosomal disorder in which chromosome 4 is affected." "" + "ring chromosome 6" "Ring chromosome 6 syndrome is a rare chromosomal anomaly syndrome with highly variable phenotype principally characterized by prenatal/postnatal growth failure, intellectual disability, developmental delay, craniofacial dysmorphism (incl. microcephaly, microphthalmia, epicanthus, low-set and malformed ears, broad and flat nasal bridge, full lips, micrognathia), central nervous system anomalies (e.g. hydrocephalus, cortical atrophy, ventriculomegaly), short neck, and delayed bone age. Cardiac defects, limb anomalies, hip joint malformations, and seizures have also been reported." "" + "chromosome 6 disorder" "Chromosomal disorder in which chromosome 6 is affected." "" + "ring chromosome 7" "Ring chromosome 7 syndrome is a rare chromosomal anomaly syndrome, with highly variable phenotype, principally characterized by growth failure, short stature, intellectual disability, dermatological abnormalities (nevus flammeus, dark pigmented nevi, café-au-lait spots), microcephaly and facial dysmorphism (incl. facial asymmetry, small ears, abnormal palpebral fissures, ptosis, epicanthic folds, hyper/hypotelorism). Additional reported features include convulsions, cleft lip and palate, clinodactyly, kyphoscoliosis and genital anomalies (i.e. cryptorchidism, hypospadias, micropenis)." "" + "chromosome 7 disorder" "Chromosomal disorder in which chromosome 7 is affected." "" + "obsolete hereditary breast and ovarian cancer syndrome" "" "true" + "chromosome 8-derived supernumerary ring/marker" "Chromosome 8-derived supernumerary ring/marker is a rare chromosomal anomaly comprising variable parts of chromosome 8. The phenotype of mosaic or non-mosaic supernumerary r(8)/mar(8) ranges from almost normal to variable degrees of minor abnormalities, and growth and mental retardation overlapping with the well-known mosaic trisomy 8 syndrome." "" + "chromosome 8 disorder" "Chromosomal disorder in which chromosome 8 is affected." "" + "obsolete cleidocranial dysplasia" "" "true" + "autosomal dominant coarctation of aorta" "Autosomal dominant form of aorta coarctation." "" + "atypical coarctation of aorta" "Middle aortic coarctation is a rare vascular anomaly characterized by the segmental narrowing of the abdominal and/or distal descending thoracic aorta with varying involvement of the visceral and renal arteries that commonly presents in children and young adults with early onset and refractory hypertension, abdominal angina, lower-limb claudication and that can lead to life-threatening complications associated with severe hypertension (i.e. myocardial infarction, heart failure, aortic rupture, renal insufficiency and intracranial hemorrhage). It may be due to various congenital or acquired causes, but it is most often secondary to an acquired inflammatory disease (i.e. Takayasu arteritis or giant cell arteritis)." "" + "criss-cross heart" "Criss cross heart (CCH) is a cardiac malformation where the inflow streams of the two ventricles cross due to twisting of the heart about its major axis. The clinical features depend on the particular cardiac defects associated, like simple or corrected transposition of the great arteries and ventricular septal defects." "" + "triatrial heart" "A rare congenital abnormality of the heart characterized by the presence of three atria. The right or left atrium is divided into two parts by fibromuscular tissue or a membrane. It may be associated with other heart congenital abnormalities." "" + "univentricular heart" "Univentricular heart (UVH) is a severe congenital cardiac malformation characterized by both atria related entirely or almost entirely to one functionally single ventricular chamber. The clinical manifestations include congestive heart failure, failure to thrive, cyanosis, hypoxemia and neurodevelopmental disabilities." "" + "Cogan syndrome" "Cogan syndrome (CS) is a rare autoimmune disorder of unknown origin characterized by inflammatory ocular disease (mainly interstitial keratitis) and vestibulo-auditory manifestations (mainly acute onset hearing loss, tinnitus and vertigo), in the setting of a negative work-up for syphilis, with a variable risk of developing into a systemic disease. Systemic manifestations may occur in more than 70% of cases." "" + "autoimmune vasculitis" "An autoimmune form of vasculitis." "" + "inborn error of biotin metabolism" "" + "obsolete whooping cough" "" "true" + "corpus callosum agenesis-double urinary collecting system syndrome" "" + "intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome" "Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome is characterised by a hypoplastic corpus callosum, microcephaly, severe intellectual deficit, preauricular skin tags, camptodactyly, growth retardation, and recurrent bronchopneumonia. It has been described in four patients in two families. Transmission is autosomal recessive." "" + "Epstein-Barr virus-associated carcinoma" "" + "malignant tumor of nasopharynx" "A cancer that involves the nasopharynx." "" + "obsolete adrenocortical carcinoma" "A rare, usually large (greater than 5cm), malignant epithelial tumor arising from the adrenal cortical cells. Symptoms are usually related to the excessive production of hormones, and include Cushing's syndrome and virilism in women. Common sites of metastasis include liver, lung, bone, and retroperitoneal lymph nodes. Advanced radiologic procedures have enabled the detection of small tumors, resulting in the improvement of the 5-year survival." "" "true" + "thin ribs-tubular bones-dysmorphism syndrome" "" + "craniodigital syndrome-intellectual disability syndrome" "Craniodigital syndrome - intellectual deficit is characterised by syndactyly of the fingers and toes, characteristic facies (`startled' facial expression with a small pointed nose, micrognathia, long dark eyelashes and prominent eyebrows) and intellectual deficit." "" + "craniofrontonasal dysplasia-Poland anomaly syndrome" "Cranio-fronto-nasal dysplasia - Poland anomaly is a polymalformative syndrome characterised by craniosynostosis, Poland anomaly, cranio-fronto-nasal dysplasia, and genital and breast anomalies. Less than ten cases have been described so far." "" + "cranio-osteoarthropathy" "Cranio-osteoarthropathy (COA) is a form of primary hypertrophic osteoarthropathy characterized by delayed closure of the cranial sutures and fontanels, digital clubbing, arthropathy, and periostosis." "" + "craniosynostosis, Philadelphia type" "Craniosynostosis, Philadelphia type is a form of syndromic craniosynostosis, characterized by sagittal/dolichocephalic head shape with a relatively normal facial appearance and complete soft tissue syndactyly of hand and foot. Transmission is autosomal dominant with variable expression of the hand findings, and incomplete penetrance of the sagittal craniosynostosis. Craniosynostosis, Philadelphia type has been suggested to share the same etiology as syndactyly type 1A." "" + "craniosynostosis-cataract syndrome" "" + "benign focal seizures of adolescence" "" + "adolescent-onset epilepsy syndrome" "" + "obsolete cryptococcosis" "" "true" + "cryptorchidism-arachnodactyly-intellectual disability syndrome" "Cryptorchidism-arachnodactyly-intellectual disability syndrome is a rare, multiple congenital anomalies syndrome characterized by psychomotor delay, severe intellectual deficit, severe muscle hypoplasia (with absence of subcutaneous fatty tissue), generalized contractures, craniofacial dysmorphic features (dolichocephaly, esotropia, ears of unequal size, high palate), chest and spinal deformities (i.e. sternum shifted to side, kyphoscoliosis), pulmonary anomalies (unilateral hypoplastic bronchial system), arachnodactyly, and genital abnormalities (cryptorchidism, hypospadias, testicular agenesis). Repeated respiratory tract infections and atelectasis are also associated. There have been no further descriptions in the literature since 1970." "" + "cryptosporidiosis" "Intestinal infection with organisms of the genus Cryptosporidium. It occurs in both animals and humans. Symptoms include severe diarrhea." "" + "obsolete rare head and neck malformation" "True" "true" + "pinnae fistula or cyst" "Pinnae fistula or cyst is a rare otorhinolaryngological malformation characterized by the presence of a, usually unilateral, sinus tract or cyst located in the vicinity of the auricle (most frequently identified by a small pit near the anterior margin of the first ascending portion of the helix). Typically, patients are asymptomatic and usually only present symptoms (pain, erythema, discharge from pit) in relation to infection. Renal and inner ear anomalies may be associated." "" + "submucosal cleft palate" "" + "coloboma of superior eyelid" "Coloboma of superior eyelid is a rare developmental defect during embryogenesis characterized by a typically unilateral, partial or full-thickness, variably sized defect of the superior eyelid, ranging from a small notch to complete absence of the entire lid, which is commonly triangular in shape (with base at eyelid margin) and located on the medial third of the lid. It can occur isolated, associated with other anomalies (e.g. ocular/orbital and facial), or as part of a syndrome." "" + "coloboma of inferior eyelid" "Coloboma of inferior eyelid is a rare developmental defect during embryogenesis characterized by a unilateral or bilateral, partial or full-thickness, variably sized defect of the inferior eyelid (ranging from a small notch to complete absence of the entire lid) which is usually triangular in shape (with base at eyelid margin) and located on the lateral third of the lid. It can occur isolated, associated with facial clefting or as part of a syndrome." "" + "cysticercosis" "Cysticercosis is a parasitic infectious disease characterized by cyst formation in the target tissue of Taenia solium (tapeworm) parasite larvae ingested via the feces of a human with a tapeworm (human-to-human fecal-oral transmission) leading to variable clinical manifestations in muscle, the brain, spinal cord, and eyes. Infection of muscle tissue is generally asymptomatic. Cyst development in the brain and spinal cord is known as neurocysticercosis (NCC) and may cause seizures and headache. NCC can follow a serious course and may be life-threatening. Severe cases of cysticercosis are treated with albendazole and anti-inflammatory drugs." "" + "primary hereditary glaucoma" "" + "lipoatrophy with diabetes, leukomelanodermic papules, liver steatosis, and hypertrophic cardiomyopathy" "" + "isolated dystonia" "A dystonia (disease) that is not part of a larger syndrome." "" + "otomandibular dysplasia associated with monogenic syndromes" "True" + "obsolete pinnae and external auditory canal anomaly" "" "true" + "obsolete rare genetic hepatic disease" "Rare genetic liver disease." "True" "true" + "obsolete rare genetic urogenital disease" "True" "true" + "obsolete rare genetic endocrine disease" "A form of endocrine system disease that is both rare and inborn." "True" "true" + "symbrachydactyly of hands and feet" "Symbrachydactyly of hands and feet is a rare, non-syndromic limb reduction defect disorder characterized by unilateral or bilateral brachydactyly, cutaneous syndactyly and global hypoplasia of the hand and/or foot, with underlying muscles, tendons, ligaments and bones being affected but without other associated limb anomalies. Patients typically present short, stiff, webbed or missing fingers and/or toes which are often replaced with small stumps (nubbins) with residual nails." "" + "non-syndromic brachydactyly" "" + "obsolete rare genetic syndromic intellectual disability" "Rare genetic syndromic intellectual disability." "True" "true" + "congenital or early infantile CACH syndrome" "" + "late infantile CACH syndrome" "" + "juvenile or adult CACH syndrome" "" + "situs ambiguus" "" + "epithelioid hemangioendothelioma" "A low-grade malignant blood vessel neoplasm. It is characterized by the presence of epithelioid endothelial cells. The neoplastic cells are arranged in cords and nests, which are embedded in a myxoid to hyalinized stroma." "" + "hemangioendothelioma" "A vascular proliferation characterized by the presence of prominent endothelial cells and the formation of vascular channels. Hemangioendotheliomas may display borderline or low grade characteristics." "" + "congenital pseudoarthrosis of the limbs" "" + "cold-induced sweating syndrome - hyperthermia spectrum" "" + "" "true" + "congenital epulis" "A congenital gingival tumor that occurs along the alveolar ridge of the maxilla. It usually affects female infants. The histogenesis is unknown. Morphologically, it is characterized by the presence of large cells with eosinophilic granular cytoplasm. Complete surgical resection is curative." "" + "paroxysmal Hemicrania" "Paroxysmal hemicrania (PH) is a primary headache disorder characterized by multiple attacks of unilateral pain that occur in association with cranial autonomic symptoms. The hallmarks of this syndrome are the relative shortness of the attacks and the complete response to indomethacin therapy." "" + "trigeminal autonomic cephalalgia" "A headache disorder characterized by episodes of unilateral, short lasting pain and associated ipsilateral cranial autonomic symptoms." "" + "Langerhans cell histiocytosis" "Langerhans cell histiocytosis (LCH) is a systemic disease associated with the proliferation and accumulation (usually in granulomas) of Langerhans cells in various tissues." "" + "obsolete systemic disease with skin involvement" "" "true" + "generalized eruptive histiocytosis" "" + "benign cephalic histiocytosis" "" + "juvenile xanthogranuloma" "A benign histiocytic tumor that occurs during childhood; it is distinct from Langerhans cell histiocytosis. It is characterized by the presence of lipid-laden, foamy histiocytes and Touton-type giant cells in the dermis. The lesions usually develop during infancy. They consist of cutaneous papules and nodules (most often in the head and neck). It is sometimes associated with deep soft tissues nodules." "" + "xanthoma disseminatum" "" + "papular xanthoma" "Papular xanthoma is a form of non-Langerhans cell histiocytosis characterized by cutaneous presentation of solitary or disseminated yellow to orange-brown papular or papulonodular, noncoalescent, asymptomatic skin lesions located predominantly on the head, neck, trunk and extremities (rarely on oral mucosa), in the presence of normolipidemia. Microscopically, the lesions consist of monomorphous infiltrate of xanthomatized macrophages and numerous Touton giant cells, with scant or absent inflammatory infiltrate. It is usually not associated with systemic disease." "" + "necrobiotic xanthogranuloma" "A cutaneous necrobiotic disorder characterized by firm, yellow plaques or nodules, often in a periorbital distribution. It is often accompanied by an elevated erythrocyte sedimentation rate; leukopenia; and monoclonal gammopathy (IgG-kappa type) and systemic involvement." "" + "indeterminate dendritic cell tumor" "A very rare dendritic cell tumor composed of spindle to ovoid cells with a phenotype that is similar to the Langerhans cells. Patients usually present with cutaneous papules, nodules, and plaques. Systemic symptoms are usually absent. The clinical course is variable." "" + "progressive nodular histiocytosis" "Progressive nodular histiocytosis is a rare, normolipemic, non-Langerhans cell histiocytosis characterized by progressive growth of multiple to disseminated, asymptomatic skin lesions that range in appearance from yellow plaques to coalescence-prone red-brown papules, nodules and pedunculated tumors up to 5 cm in size, located typically on the face, trunk and extremities (and rarely on conjuctiva and mucous membranes). Characteristic microscopic findings include a storiform spindle cell infiltrate in the deep dermis with xanthomatized macrophages and some Touton cells in the upper dermis. It is usually not associated with systemic disease." "" + "hemophagocytic syndrome" "Hemophagocytic syndrome (HPS) is a rare immune disease and a potentially life-threatening disorder characterized by cytokine storm and overwhelming inflammation causing fever, hepatosplenomegaly, cytopenia, hypertriglyceridemia, hyperferritinemia, and hemophagocytosis in bone marrow, liver, spleen or lymph nodes. It can be either primary due to a genetic defect (primary hemophagocytic lymphohistiocytosis), or secondary to malignancies, to infections, most commonly with viruses such as Epstein-Barr virus or cytomegalovirus, human immunodeficiency virus, or to autoimmune disorders such as systemic lupus erythematosus or adult-onset Still disease (secondary hemophagocytic lymphohistiocytosis)." "" + "secondary hemophagocytic lymphohistiocytosis" "Hemophagocytic lymphohistiocytosis due to infections, autoimmune disorders, or underlying malignancies. Signs and symptoms include fever, lymphadenopathy, hepatomegaly, splenomegaly, and pancytopenia." "" + "obsolete hemophagocytic syndrome associated with an infection" "" "true" + "acquired hemophagocytic lymphohistiocytosis associated with malignant disease" "" + "macrophage activation syndrome" "A complication of rheumatic disease that is caused by excessive activation and uncontrolled proliferation of T lymphocytes and well-differentiated macrophages. It is characterized by fever, pancytopenia, liver insufficiency, coagulopathy and neurologic symptoms." "" + "non-distal monosomy 10q" "Non-distal monosomy 10q is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 10, with a highly variable phenotype principally characterized by developmental delays (usually of language and speech), variable cognitive impairment and neurobehavioral abnormalities such as autism spectrum disorders and attention deficit disorder. Macrocephaly and mild dysmorphic features may by associated. Overlap with other syndromes, such as Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome and juvenile polyposis syndrome has been reported." "" + "obsolete rare genetic hematologic disease" "True" "true" + "epidermolysis bullosa simplex" "Epidermolysis bullosa simplex (EBS) is a group of hereditary epidermolysis bullosa (HEB) disorders characterized by skin fragility resulting in intraepidermal blisters and erosions that occur either spontaneously or after physical trauma." "" + "acral dystrophic epidermolysis bullosa" "Acral dystrophic epidermolysis bullosa is a very rare subtype of dystrophic epidermolysis bullosa (DEB) characterized by blistering confined primarily to the hands and feet." "" + "dystrophic epidermolysis bullosa, nails only" "Dystrophic epidermolysis bullosa, nails only is a rare subtype of dystrophic epidermolysis bullosa (DEB) that shows no blistering and that is characterized by dystrophic or absent nails." "" + "typical urticaria pigmentosa" "" + "maculopapular cutaneous mastocytosis" "Maculopapular cutaneous mastocytosis (MCM) is a form of cutaneous mastocytosis (CM) characterized by the presence of multiple hyperpigmented macules, papules or nodules associated with abnormal accumulation of mast cells in the skin." "" + "plaque-form urticaria pigmentosa" "" + "nodular urticaria pigmentosa" "" + "Smouldering systemic mastocytosis" "Smouldering systemic mastocytosis is a type of systemic mastocytosis (SM). This clonal hematologic disease, with a slow progression, results in an accumulation of neoplastic mast cells in the visceral organs over time and patients present with splenomegaly, hypercellular marrow and, in some cases, urticaria pigmentosa-like skin lesions." "" + "indolent systemic mastocytosis" "Indolent systemic mastocytosis (ISM) is a benign form of systemic mastocytosis (SM) characterized by an abnormal proliferation of mast cells either only in bone marrow or in numerous tissues." "" + "isolated bone marrow mastocytosis" "" + "lymphoadenopathic mastocytosis with eosinophilia" "" + "aggressive systemic mastocytosis" "Aggressive systemic mastocytosis (ASM) is a severe and rare form of systemic mastocytosis (SM) characterized by considerable infiltration of mast cells in different tissues." "" + "obsolete classic mast cell leukemia" "" "true" + "obsolete aleukemic mast cell leukemia" "" "true" + "distal monosomy 17q" "Distal monosomy 17q is a very rare chromosomal disorder of unknown prevalence characterized by multiple craniofacial (microcephaly and eye, ear, and nose deformities), limb and other multiple organ abnormalities, growth and motor retardation and intellectual deficit. The syndrome is frequently lethal. The deletions include 17(q21.3q23), 17(q21.3q24.2), 17(q23.q24.3) and 17(q23.1q24.2)." "" + "obsolete blue cone monochromatism" "" "true" + "Castleman disease" "Castleman disease (CD) is a benign lymphoproliferative disorder that may present as a localized or multicentric form. The clinical manifestations are heterogeneous, ranging from asymptomatic discrete lymphadenopathy to recurrent episodes of diffuse lymphadenopathy with severe systemic symptoms." "" + "cap polyposis" "Cap polyposis (CP) is a rare colorectal disease characterized by multiple inflammatory polyps that predominantly affect the rectosigmoid area and that manifests primarily as rectal bleeding with abnormal transit, constipation and diarrhea." "" + "2q24 microdeletion syndrome" "2q24 microdeletion syndrome is a chromosomal anomaly consisting of a partial long arm deletion of chromosome 2 and characterized clinically by a wide range of manifestations (depending on the specific region deleted) which can include seizures, microcephaly, dysmorphic features, cleft palate, eye abnormalities (coloboma, cataract and microphthalmia), growth retardation, failure to thrive, heart defects, limb anomalies, developmental delay and autism." "" + "cataract-glaucoma syndrome" "Cataract-glaucoma syndrome is characterised by the association of total bilateral congenital cataract with the secondary occurrence of glaucoma appearing at ages varying between 10 and 40 years." "" + "isolated congenital nasal pyriform aperture stenosis" "" + "congenital nasal pyriform aperture stenosis with holoprosencephaly" "" + "isolated congenital auditory ossicle malformation" "Isolated congenital auditory ossicle malformation is a rare, congential, middle ear anomaly characterized by, usually unilateral and sporadic, variations in the number, size and/or configuration of the ossicles, with no tympanic membrane and external ear abnormalities and no history of trauma or infection. Patients frequently present late, after schooling has started, with non- progressive, conductive hearing loss often associated with speech delay and poor school performance." "" + "middle ear anomaly" "" + "deletion 5q35" "Deletion 5q35 refers to the different congenital malformation syndromes resulting from deletions of variable extent of the terminal part of the long arm of chromosome 5 (5q), spanning the region from 5q35.1 to 5q35.3 . The most significant anomaly is a recurring deletion in 5q35.2 comprising the NSD1 gene that causes Sotos syndrome that is characterized by cardinal features including excessive growth during childhood, macrocephaly, distinctive facial gestalt and various degrees of learning difficulty. Subtelomeric deletions of the terminal 3.5 Mb region on 5q35.3 are very rare, characterized by prenatal lymphedema with increased nuchal translucency, pronounced muscular hypotonia in infancy, borderline intelligence, postnatal short stature due to growth hormone deficiency, and a variety of minor anomalies such as mildly bell-shaped chest, minor congenital heart defects and a distinct facial gestalt. Larger deletions including bands 5q35.1, 5q35.2 and 5q35.3 cause a more severe phenotype that associates severe developmental delay with microcephaly, and significant cardiac defects (e.g. atrial septal defect with/without atrioventricular conduction defects, Ebstein anomaly, tetralogy of Fallot) linked to haploinsufficiency of NKX2.5 (5q35.1). Various combinations of signs may result from deletions of variable extent depending on the genes comprised in the deleted segment." "" + "cerebral malformation due to abnormal neuronal migration" "True" + "subacute cutaneous lupus erythematosus" "Subacute cutaneous lupus erythematosus (SCLE) is a form of cutaneous lupus erythematosus (CLE) that can present either as a non-scarring, annular photo-distributed dermatosis or psoriasiform plaques. SCLE is associated with anti-Ro/SSA antibodies and can be drug-induced." "" + "chronic cutaneous lupus erythematosus" "Chronic cutaneous lupus erythematosus (CCLE) is a form of cutaneous lupus erythematosus (CLE) that includes five different forms: discoid lupus erythematosus (DLE), chilblain lupus, hypertrophic or verrucous lupus erythematosus, lupus erythematosus tumidus, and lupus erythematosus panniculitis." "" + "obsolete rare bacterial infectious disease" "Rare bacterial infectious disease." "True" "true" + "obsolete rare viral disease" "Rare viral disease." "True" "true" + "obsolete rare parasitic disease" "Any of the forms of parasitic infection that have a rare incidence." "True" "true" + "obsolete rare mycosis" "Rare fungal infectious disease." "True" "true" + "Hb Bart's hydrops fetalis" "Hb Bart's hydrops fetalis is the most severe form of alpha-thalassemia and is almost always lethal. It is characterized by fetal onset of generalized edema, pleural and pericardial effusions, and severe hypochromic anemia." "" + "distal monosomy 7q36" "Distal monosomy 7q36 is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 7, with a highly variable phenotype typically characterized by holoprosencephaly, growth restriction, developmental delay, facial dysmorphism (facial clefts, prominent forehead, hypertelorism, low-set ears, flat and broad nasal bridge, large mouth), abnormal fingers and palm or sole creases, ocular abnormalities, and other congenital malformations (incl. genital anomalies and caudal deficiency sequence). Cardiopathies have been occasionally reported." "" + "bile acid synthesis defect with cholestasis and malabsorption" "True" + "obsolete rare disorder related with pregnancy, childbirth and puerperium" "Any of the forms of pregnancy disorder that have a rare incidence." "True" "true" + "2p21 microdeletion syndrome" "The 2p21 microdeletion syndrome consists of cystinuria, neonatal seizures, hypotonia, severe growth and developmental delay, facial dysmorphism, and lactic acidemia." "" + "febrile infection-related epilepsy syndrome" "Febrile infection-related epilepsy syndrome (FIRES) describes an explosive-onset, potentially fatal acute epileptic encephalopathy that develops in previously healthy children and adolescents following the onset of a non-specific febrile illness." "" + "cryptogenic late-onset epileptic spasms" "Cryptogenic late-onset epileptic spasms is a rare epilepsy syndrome characterized by late-onset (after 1 year old) epileptic spasms that ocurr in clusters, associated with tonic seizures, atypical absences and cognitive deterioration. Language difficulties and behavior problems are frequently present. EEG is characterized by a temporal, or temporofrontal, slow wave or spike focus combined with synchronous spike-waves and no hypsarrhythmia or background activity." "" + "limbic encephalitis" "Limbic encephalitis represents a group of autoimmune conditions characterized by inflammation of the limbic system and other parts of the brain.The cardinal sign of limbic encephalitis is a severe impairment of short-term memory; however,symptoms may also include confusion, psychiatric symptoms, and seizures.The symptomstypically develop over a few weeks or months, but they may evolve over a few days. Limbic encephalitis is often associated with an underlying neoplasm (paraneoplastic limbic encephalitis); however some cases never have a neoplasm identified (non-paraneoplastic limbic encephalitis). Delayed diagnosis is common, but improvements are being made to assist in early detection. Various tests including imaging studies (MRI, PET) laboratory tests (CSF analysis), and tests that measure the electrical activity of the brain (EEG) may be utilized to confirm a diagnosis. Treatment includes removal of the neoplasm (if identified) and immunotherapy." "" + "paraneoplastic limbic encephalitis" "A rare disorder characterized by degenerative changes in the limbic area of the brain. Causes include infections and autoimmune conditions; it may also manifest as a paraneoplastic syndrome, most often caused by small cell lung carcinoma. Signs and symptoms include behavioral changes, hallucinations and dementia." "" + "classic paraneoplastic limbic encephalitis" "Classic paraneoplastic limbic encephalitis is a rare neuroimmunological disorder characterized by the sudden onset of seizures, progressive memory impairment (which may develop into dementia) and psychiatric manifestations (e.g. depression, personality changes, loss of social inhibition) associated with cancer (most commonly small-cell carcinoma of the lung) in the absence of tumor cell invasion of the nervous system. Other reported features include ataxia, dystonia, paresthesia, tremors, paranoid ideation, and hallucinations. The presence of antibodies that act on neuronal antigens (such as anti-Hu, anti-Ma2, anti-amphiphysin) are typically observed." "" + "limbic encephalitis associated with antibodies to cell membrane antigens" "" + "limbic encephalitis with LGI1 antibodies" "Limbic encephalitis with LGI1 antibodies is a rare neuroimmunological disorder characterized by the onset of cognitive decline, psychiatric disturbances and seizures (distinctively faciobrachial dystonic seizures) in association with detection of LGI1 antibodies in serum or cerebrospinal fluid. Patients may present with confusion, hallucinations, vocalization, paranoia, tangentiality, aggressive outbursts and/or spatial disorientation, as well as obstinate hyponatremia. It is most often non-paraneoplastic, however comorbid tumors, such as small cell lung cancer and thymoma, have been reported." "" + "non-paraneoplastic limbic encephalitis" "" + "limbic encephalitis with nCMAgs antibodies" "" + "posttransplant acute limbic encephalitis" "Posttransplant acute limbic encephalitis is a rare, acquired, non-paraneoplastic limbic encephalitis disorder, that develops in the setting of treatment-related immunosuppression, typically after allogeneic hemapoietic stem cell transplantation, characterized by onset of confusion, headache, anterograde amnesia, seizures and/or loss of consciousness 2-6 weeks following transplantation. Bilateral, non-enhancing T2 hyperintensities in limbic structures are observed on magnetic resonance imaging. Mild cerebrospinal fluid pleocytosis and syndrome of inappropriate antidiuretic hormone secretion may also be associated." "" + "non-herpetic acute limbic encephalitis" "Non-herpetic acute limbic encephalitis is a rare neuroinflammatory/neuroautoimmune disease characterized by an acute (or subacute) onset of disturbance of consciousness (occasionally presenting as convulsions) and high fever, associated with cerebral lesions (on magnetic resonance imaging) that are restricted to the limbic system (particularly the hippocampi and amygdalae), in the absence of viral, bacterial, fungal, paraneoplastic and other disorders." "" + "pustulosis palmaris et plantaris" "" + "obsolete acrodermatitis continua suppurativa of Hallopeau" "" "true" + "atopic keratoconjunctivitis" "Atopic keratoconjunctivitis is a rare and chronic allergic disease of the cornea and conjunctiva occurring in all age groups characterized by severe itching and burning sensation, conjunctival injection, photophobia and edema with serious cases leading to ulceration of the cornea which can result in blindness. It is often associated with atopic dermatitis." "" + "X-linked intellectual disability, Cilliers type" "X-linked intellectual deficit, Cilliers type is characterized by mild intellectual deficit associated with short stature, hypergonadotropic hypogonadism, microcephaly and mild facial dysmorphism (deep-set eyes, prominent supraorbital ridges, a high nasal bridge and large ears)." "" + "X-linked intellectual disability, van Esch type" "X-linked intellectual deficit, Van Esch type is characterized by mild to moderate intellectual deficit associated with low birth weight, short stature, microcephaly and variable hypergonadotropic hypogonadism." "" + "obsolete developmental delay-deafness syndrome, Hildebrand type" "" "true" + "obsolete rare odontal or periodontal disorder" "True" "true" + "distal monosomy 9p" "Distal monosomy 9p is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the short arm of chromosome 9, with a highly variable phenotype typically characterized by intellectual disability, craniofacial dysmorphism (trigonocephaly, upslanting palpebral fissures, hypoplastic supraorbital ridges), abnormal digits (long middle phalanges with short distal phalanges), as well as frequent association with genitourinary abnormalities (cryptorchidism, hypospadias, ambiguous genitalia, 46,XY testicular dysgenesis). Congenital hypothyroidism and cardiovascular defects have been reported in some cases. Patients present an increased risk for gonadoblastoma." "" + "Xp22.3 microdeletion syndrome" "Xp22.3 microdeletion syndrome is a microdeletion syndrome resulting from a partial deletion of the chromosome X. Phenotype is highly variable (depending on length of deletion), but is mainly characterized by X linked ichthyosis, mild-moderate intellectual deficit, Kallmann syndrome, short stature, chondrodysplasia punctata and ocular albinism. Epilepsy, attention deficit-hyperactivity disorder, autism and difficulties with social communication can be associated." "" + "male infertility with spermatogenesis disorder" "True" + "chromosome Y structural anomaly" "True" + "chromosome Y disorder" "Chromosomal disorder in which chromosome Y is affected." "" + "acute myeloid leukemia and myelodysplastic syndromes related to radiation" "Acute myeloid leukemia and myelodysplastic syndromes related to radiation represent a subgroup of therapy-related myeloid neoplasms (t-MN), associated with treatment of an unrelated neoplastic disease with radiation. The neoplastic cells typically harbor unbalanced aberrations of chromosomes 5 and 7 (monosomy 5/del(5q) and monosomy 7/del(7q)) or a complex karyotype. Patients frequently present with multilineage dysplasia and cytopenias 5-10 years after exposure." "" + "circadian rhythm sleep disorder" "A persistent or recurrent pattern of sleep disruption that is primarily due to an alteration of the circadian system or to a misalignment between the endogenous circadian rhythm and the sleep-wake schedule required by an individual's physical environment or social or professional schedule.(DSM IV)" "" + "hereditary dentin defect" "The hereditary dentin disorders, dentinogenesis imperfecta (DGI) and dentin dysplasia (DD), comprise a group of conditions characterized by abnormal dentin structure affecting either the primary or both the primary and secondary dentitions." "" + "obsolete rare genetic gastroenterological disease" "True" "true" + "obsolete rare genetic intestinal disease" "True" "true" + "obsolete genetic pancreatic disease" "" "true" + "non-syndromic urogenital tract malformation" "A urogenital tract malformation that is not part of a larger syndrome." "" + "urogenital tract malformation" "" + "obsolete rare abdominal surgical disease" "True" "true" + "wound myiasis" "" + "cutaneous myiasis" "" + "cavitary myiasis" "Cavitary myiasis is a rare parasitic disease characterized by the infestation of natural body cavities (e.g. aural, nasal, oral, urogenital myiasis) and internal organs (e.g. cerebral myiasis, ophthalmomyiasis, intestinal and tracheopulmonary myiasis) with dipteran larvae. Clinical presentation is variable depending on the affected site(s) and degree of infestation and include foreign-body sensation (with or without movement sensation), hemorrhage, pain, edema, sensory loss, malodor, and pruritus, among others. Neurological features (e.g. motor deficits, seizures, reduced mental status, extrapyramidal signs) have been reported in cerebral myiasis." "" + "diazoxide-resistant diffuse hyperinsulinism" "Diazoxide-resistant diffuse hyperinsulism (DRDH) is a form of Diazoxide resistant hyperinsulinism characterized by recurrent episodes of profound hypoglycemia caused by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) due to diffuse involvement of pancreas that is unresponsive to medical treatment with diazoxide, often necessitating near total/total pancreatectomy." "" + "diazoxide-resistant hyperinsulinism" "Diazoxide-resistant hyperinsulism (DRH) is form of congenital isolated hyperinsulism caused by an abnormal insulin production by B-cells in the pancreas that can be diffuse or focal and is characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia), recurrent episodes of profound hypoglycemia and resistance to medical management with diazoxide." "" + "von Willebrand disease type 2A" "Type 2A von Willebrand disease (type 2A VWD) is a subtype of type 2 VWD characterized by a bleeding disorder associated with a decrease in the affinity of the Willebrand factor (von Willebrand factor; VWF) for platelets and the subendothelium caused by a deficiency of high molecular weight VWF multimers." "" + "von Willebrand disease type 2B" "A subtype of type 2 VWD characterized by a bleeding disorder associated with an increase in the affinity of the Willebrand factor (von Willebrand factor; VWF) for platelets. This anomaly results in spontaneous binding of high molecular weight VWF multimers to platelets leading to rapid clearance of both the platelets (increasing the risk of thrombocytopenia) and the high molecular weight VWF multimers from the plasma." "" + "von Willebrand disease type 2M" "A subtype of type 2 VWD characterized by a bleeding disorder associated with a decrease in the affinity of the Willebrand factor (von Willebrand factor; VWF) for platelets and the subendothelium in the absence of any deficiency of high molecular weight VWF multimers." "" + "von Willebrand disease type 2N" "Type 2N von Willebrand disease (type 2N VWD) is a subtype of type 2 VWD characterized by a bleeding disorder associated with a marked decrease in the affinity of the Willebrand factor (von Willebrand factor; VWF) for factor VIII (FVIII)." "" + "FASTKD2-related infantile mitochondrial encephalomyopathy" "" + "obsolete Bazex syndrome" "" "true" + "isolated osteopoikilosis" "A osteopoikilosis (disease) that is not part of a larger syndrome." "" + "porokeratotic eccrine ostial and dermal duct nevus" "A rare, congenital disorder of the eccrine sweat ducts that presents as grouped keratotic papules and plaques with a linear distribution and/or multiple punctate pits filled with tiny keratotic plugs resembling comedones. The lesion are usually located on the acral portion of a limb." "" + "benign eccrine neoplasm" "A non-metastasizing eccrine appendage sweat gland neoplasm. Representative examples include hidrocystoma, syringoma, and syringofibroadenoma." "" + "eccrine sweat gland hamartoma" "A hamartoma characterized by localized eccrine sweat gland malformation." "" + "dirofilariasis" "Infection with nematodes of the genus dirofilaria, usually in animals, especially dogs, but occasionally in humans." "" + "benign non-familial infantile seizures" "" + "benign partial epilepsy of infancy with complex partial seizures" "Benign partial epilepsy of infancy with complex partial seizures is a rare infantile epilepsy syndrome characterized by complex partial seizures presenting with motion arrest, decreased responsiveness, staring, automatisms and mild clonic movements, with or without apneas, normal interictal EEG and focal, mostly temporal discharges in ictal EEG. Most often, seizures occur in clusters and have a good response to treatment. Psychomotor development is normal." "" + "benign partial epilepsy with secondarily generalized seizures in infancy" "Benign partial epilepsy with secondarily generalized seizures in infancy is a rare infantile epilepsy syndrome characterized by seizures presenting with motion arrest and staring. They are followed by generalized tonic-clonic convulsions with normal interictal EEG and focal paroxysmal discharges, followed by generalization in ictal EEG. Seizures usually occur in clusters and are responsive to treatment. Psychomotor development is normal." "" + "benign infantile seizures associated with mild gastroenteritis" "Benign infantile seizures associated with mild gastroenteritis is a rare infantile epilepsy syndrome characterized by benign afebrile seizures in previously healthy infants and children (age range 1 month to 6 years) with mild acute gastroenteritis without any central nervous system infection, severe dehydration, or electrolyte imbalances. In most cases the seizures are tonic-clonic with focal origin on EEG, occur between day 1 and 6 following onset of acute gastroenteritis, cease within 24 hours and do not persist after the illness." "" + "benign infantile focal epilepsy with midline spikes and wave during sleep" "Benign infantile focal epilepsy with midline spikes and waves during sleep is a rare infantile epilepsy syndrome characterized by age of onset between 4 and 30 months, partial sporadic seizures presenting with motion arrest, staring, cyanosis and, less common, automatisms and lateralizing signs, and characteristic interictal sleep EEG changes consisting of a spike followed by a bell-shaped slow wave in the midline region." "" + "audiogenic seizures" "Audiogenic seizures is a rare neurologic disease characterized by seizures that are triggered by acoustic stimulation, which can be simple (as in startle epilepsy) or complex (e.g. musicogenic seizures, seizures triggered by the voice)." "" + "eating seizures" "" + "orgasm-induced seizures" "Orgasm-induced seizures is a rare neurologic disease characterized by complex partial seizures with or without secondary generalization, or idiopathic primarily generalized epilepsy, triggered by sexual orgasm. Seizures usually start immediately, shortly after or a few hours after the achievement of orgasm, last a few seconds or minutes, and are followed, in very rare cases, by intense migraine." "" + "thinking seizures" "Thinking seizures is a rare neurologic disease characterized by seizures induced by specific cognitive tasks, such as calculation or solving arithmetic problems (e.g Sudoku puzzle), playing thinking games (e.g. Rubik's cube, chess, cards), thinking, making decisions and abstract reasoning. Idiopathic generalized seizures are mainly involved, but partial epilepsies may, in rare cases, be observed." "" + "startle epilepsy" "Startle epilepsy is a rare neurologic disease characterized by frequent and spontaneous epileptic seizures (frequently with symmetrical or asymmetrical tonic features) triggered by a normal startle in response to a sudden and unexpected somatosensory (most frequently auditory) stimulus. Falls are common and can be traumatic. In most cases, the disease is associated with spastic hemi-, di-, or tetraplegia and intellectual disability." "" + "micturation-induced seizures" "Micturition-induced seizures is a rare neurologic disease characterized by tonic posturing or clonic movements triggered by micturition, with bilateral or unilateral involvement of the extremities and with or without loss of consciousness. Developmental delay is reported in some cases." "" + "obsolete rare genetic epilepsy" "A form of epilepsy that is both rare and inborn." "True" "true" + "idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes" "True" + "metabolic disease with epilepsy" "True" + "cerebral diseases of vascular origin with epilepsy" "True" + "dextrocardia" "A rare congenital abnormality in which the heart is located in the right side of the chest. It is associated with other congenital heart defects." "" + "obsolete hemorrhagic disorder due to an acquired coagulation factor defect" "True" "true" + "diencephalic syndrome" "Diencephalic syndrome (DS) is a rare condition characterized by profound emaciation and failure to thrive (with normal caloric intake and normal linear growth), hyperalertness, hyperkinesias and euphoria, in the presence of hypothalamic tumors." "" + "idiopathic pulmonary artery dilatation" "Idiopathic pulmonary artery dilatation is a rare developmental defect during embryogenesis characterized by the dilatation of the main pulmonary artery, with or without dilatation of the right and left pulmonary artery branches, and not attributed to any other cardiac, pulmonary and/or arterial wall disease. It may present with exertional dyspnea, fatigue, cough, hemoptysis, palpitation and chest pain, but may also be asymptomatic. In serious cases, trachea constriction due to postural changes may lead to attacks of cyanosis with severe dyspnea. Sudden cardiac death has been reported in some cases." "" + "scleromyxedema" "Scleromyxedema is a rare, severe skin disorder. Signs and symptoms include abnormal accumulation of mucin in the skin (mucinosis), causing papular and sclerodermoid bumps; increased production of fibroblasts (connective tissue cells) in the absence of a thyroid disorder; and monoclonal gammopathy (abnormal proteins in the blood). It often involves internal organs and may affect various body systems. The cause of scleromyxedema is not known. There is no standard treatment. Management may involve the use of intravenous immunoglobulin (IVIG), plasmapheresis, thalidomide and corticoids, or more aggressive interventions, such as autologous bone marrow transplantation." "" + "lichen myxedematosus" "" + "familial idiopathic dilatation of the right atrium" "Idiopathic dilatation of the right atrium (IDRA) is a rare congenital heart malformation of unknown etiology that is characterized by an extremely dilated right atrium, and that is usually asymptomatic and fortuitously discovered by echocardiography or chest radiography, and can be sometimes associated with other anomalies such as atrial arrhythmias (e.g. atrial flutter, atrial fibrillation, supraventricular tachycardia), severe tricuspid regurgitation, or atrial thrombus that could lead to potentially life-threatening thromboembolic complications." "" + "obsolete rare disease with dentinogenesis imperfecta" "True" "true" + "obsolete cardiomyopathy" "" "true" + "obsolete diphtheria" "" "true" + "diprosopus" "Diprosopus is a rare, life-threatening developmental defect during embryogenesis, and a subtype of conjoined twins, characterized by partial or complete duplication of the facial structures on a single head, neck, trunk and body. It may be associated with congenital anomalies involving the central nervous, cardiovascular, gastrointestinal and respiratory systems. Cleft lip and palate have been reported in rare cases." "" + "lethal multiple congenital anomalies/dysmorphic syndrome" "" + "obsolete rare cardiac tumor" "Any of the forms of heart neoplasm that have a rare incidence." "True" "true" + "distomatosis" "Distomatosis is a group of parasitoses caused by flat worms that live in contact with epitheliums. Clinical classification depends on the organ infected by the adult parasite: liver, lungs, or intestines." "" + "obsolete hyperandrogenism due to cortisone reductase deficiency" "" "true" + "cardiac diverticulum" "Congenital cardiac diverticulum (CCD) is a very rare congenital malformation characterized by a muscular appendix emerging from the left ventricular apex, rarely from the right ventricle or from both chambers, with clinical manifestations ranging from asymptomatic to life-threatening hemodynamic collapse." "" + "dysplasia of head of femur, Meyer type" "Meyer dysplasia of the femoral head is a mild localized form of skeletal dysplasia characterized by delayed, irregular ossification of femoral capital epiphysis." "" + "obsolete rare pervasive developmental disorder" "Rare pervasive developmental disorder." "True" "true" + "childhood disintegrative disorder" "Childhood disintergrative disorder is a rare pervasive developmental disorder with a disease onset before the age of three and characterized by a dramatic loss of behavioral and developmental functioning after atleast two years of normal development. Manifestations of the disease include loss of speech, incontinence, communication and social interaction problems, stereotypical autistic behaviors and dementia." "" + "obsolete malignant peritoneal mesothelioma" "" "true" + "obsolete peritoneal cystic mesothelioma" "" "true" + "chronic eosinophilic leukemia" "" + "myeloid hemopathy" "" + "myeloid neoplasm associated with PDGFRA rearrangement" "A rare, malignant, neoplastic disease characterized by clonal proliferation of myeloid and/or lymphoid precursors harboring rearrangements in the PDGFRA gene, in the blood, bone marrow and often other tissues as well (spleen, lymph nodes, skin, etc.). It usually presents as chronic eosinophilic leukemia or, less commonly, as acute myeloid leukemia or T-lymphoblastic leukemia with eosinophilia. Patients usually present with eosinophilia, anemia, thrombocytopenia, neutrophilia, splenomegaly, lymphadenopathy, fever, sweating and/or weight loss. Tissue infiltration by eosinophils can manifest with skin rash, erythema, cough, neurological alterations, gastrointestinal symptoms or, rarely, endomyocardial fibrosis and restrictive cardiomyopathy." "" + "myeloid neoplasm associated with PDGFRB rearrangement" "A rare, malignant, neoplastic disease characterized by clonal proliferation of myeloid and/or lymphoid precursors harboring rearrangements in the PDGFRB gene, in the blood, bone marrow and often other tissues as well (spleen, lymph nodes, skin, etc.). It usually presents as chronic myelomonocytic leukemia with eosinophilia, chronic eosinophilic leukemia, atypical chronic myelogenous leukemia, juvenile myelomonocytic leukemia, myelodysplastic syndrome, acute myeloid leukemia or acute lymphoblastic leukemia. Patients usually present with anemia, leukocytosis, monocytosis, eosinophilia and/or splenomegaly, or systemic symptoms, such as fever, sweating and/or weight loss." "" + "eosinophil disorder" "A disease or disorder that involves the eosinophil." "" + "refractory anemia with excess blasts in transformation" "Refractory anemia with excess blasts in transformation (RAEB-T) is characterised by dysplastic features of the myeloid and usually erythroid progenitor cells in the bone marrow and an increased number of myeloblasts in the peripheral blood. The peripheral blood blast count ranges from 20% to 30%. RAEB-T used to be a subcategory of myelodysplastic syndromes in the past. Recently, the term has been eliminated from the WHO based classification of myelodysplastic syndromes. The reason is that the percentage of peripheral blood blasts required for the diagnosis of acute myeloid leukemia has been reduced to 20%. The elimination of the RAEB-T term by the WHO experts has created confusion and ongoing arguments. Currently, according to WHO classification, the vast majority of RAEB-T cases are best classified as acute leukemias (acute leukemias with multilineage dysplasia following myelodysplastic syndrome). A minority of cases are part of RAEB-2." "" + "obsolete composite lymphoma" "" "true" + "malignant melanoma of the mucosa" "A melanoma (disease) that involves the mucosa." "" + "Good syndrome" "Good syndrome, also known as thymoma-immunodeficiency, is a very rare acquired immunodeficiency syndrome characterized by the association of thymoma and combined B-cell and T-cell immunodeficiency of adult onset with increased susceptibility to infections." "" + "acquired immunodeficiency" "" + "transient hypogammaglobulinemia of infancy" "A rare, primary humoral immunodeficiency of childhood characterized by decreasing serum levels of immunoglobulin G (IgG) as maternal antibodies clear the circulation while serum levels of immunoglobulin A and immunoglobulin M remain normal or are slightly decreased. Diagnosis may be suspected after the age of six months when a child's own synthesis of IgG should accelerate but it must be confirmed retrospectively after normalization of all serum immunoglobulin levels is seen by ages 2-6. This disorder may be caused by inadequate activation of progenitor B cells, defective class-switching or may even represent a maturational variant. Typically, a normal response to protein antigens is found while there is a notably diminished response to viral and bacterial polysaccharide antigens. Clinical presentation may include recurrent infections especially those of the respiratory tract. Despite increased susceptibility to infection in childhood, this disorder is self-limited with minimal implications for a normal life span." "" + "T-B+ severe combined immunodeficiency due to CD45 deficiency" "" + "mosaic trisomy 1" "" + "obsolete DNA repair defect other than combined T-cell and B-cell immunodeficiencies" "" "true" + "immunodeficiency syndrome with autoimmunity" "True" + "immune dysregulation disease with immunodeficiency" "True" + "specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells" "True" + "non-distal trisomy 10q" "Non-distal trisomy 10q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 10, characterized by mild to moderate developmental delay, postnatal growth retardation, central hypotonia, craniofacial dysmorphism (incl. microcephaly, prominent forehead, flat, thick ear helices, deep-set, small eyes, epicanthus, upturned nose, bow-shaped mouth, highly arched palate, micrognathia), ocular anomalies (e.g. iris coloboma, retinal dysplasia, strabismus), long, slender limbs and skeletal and digital anomalies (scoliosis, poly/syndactyly). Additional features reported include cardiac defects (e.g. septal ventricular defect), anal atresia, and cryptorchidism." "" + "idiopathic central precocious puberty" "" + "secondary central precocious puberty" "" + "severe hemophilia B" "Severe hemophilia B is a form of hemophilia B characterized by a large deficiency of factor IX leading to frequent spontaneous hemorrhage and abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction." "" + "moderately severe hemophilia B" "Moderately severe hemophilia B is a form of hemophilia B characterized by factor IX deficiency leading to abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction." "" + "mild hemophilia B" "Mild hemophilia B is a form of hemophilia B characterized by a small deficiency of factor IX leading to abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction." "" + "mosaic trisomy 12" "Mosaic trisomy 12 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, principally characterized by developmental or growth delay, short stature, craniofacial dysmorphism (e.g. turricephaly, tall forehead, downslanting palpebral fissures, posteriorly rotated and low set ears, narrow palate), congenital heart defects (e.g. atrial septal defect, patent ductus arteriosus), hypotonia, and pigmentary dysplasia. Scoliosis, hearing loss, facial/body asymmetry, and intellectual disability have also been reported." "" + "severe hemophilia A" "Severe hemophilia A is a form of hemophilia A characterized by a large deficiency of factor VIII leading to frequent spontaneous hemorrhage and abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction." "" + "moderately severe hemophilia A" "Moderately severe hemophilia A is a form of hemophilia A characterized by factor VIII deficiency leading to abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction." "" + "mild hemophilia A" "Mild hemophilia A is a form of hemophilia A characterized by a small deficiency of factor VIII leading to abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction." "" + "trisomy 12p" "Trisomy 12p is an extremely rare chromosomal disorder (over 30 cases reported worldwide) characterized by craniofacial malformations (round face, prominent cheeks, high bulging forehead, broad and flat nasal bridge, short nose with anteverted nostrils, long philtrum, prominent and everted lower lip, low-set ears, abnormally folded helix, protuberant antihelix), postnatal growth retardation, mental and psychomotor retardation, generalized hypotonia, abnormally short wide hands and/or other abnormalities." "" + "non-distal trisomy 13q" "Non-distal trisomy 13q is a rare chromosomal anomaly disorder, resulting from the partial duplication of the proximal long arm of chromosome 13, with a highly variable phenotype principally characterized by increased polymorphonuclear leucocyte projections and persistence of fetal hemoglobin, as well as growth and developmental delay and craniofacial dysmorphism (incl. microcephaly, depressed nasal bridge, stubby nose, low-set, malformed ears, cleft lip/palate, micrognathia). Strabismus, clinodactyly and undescended testes in males may also be associated." "" + "partial duplication of the long arm of chromosome 13" "Chromosome 13q duplication is a chromosome abnormality that occurs when there is an extra(duplicated) copy of genetic material on the long arm (q) of chromosome 13." "True" + "chromosome 13q trisomy" "" + "mosaic trisomy 14" "Mosaic trisomy 14 is a rare chromosomal disorder in which there are 3 copies (trisomy) of chromosome 14 in some cells of the body, while other cells have the usual two copies. The extent and severity of features in affected individuals can vary. Signs and symptoms that have been most commonly reported include intrauterine growth restriction ; failure to to thrive ; developmental delay; intellectual disability; distinctive facial characteristics; structural malformations of the heart; and other physical abnormalities. This condition is most often caused by an error in cell division in the egg or sperm cell before conception, or in fetal cells after fertilization. Treatment is directed toward the specific signs and symptoms in each individual." "" + "distal trisomy 14q" "" + "mosaic trisomy 15" "Mosaic trisomy 15 is a rare chromosomal anomaly syndrome principally characterized by intrauterine growth restriction, congenital cardiac anomalies (incl. ventricular and atrial septal defects, patent ductus arteriosus) and craniofacial dysmorphism (incl. hypertelorism, downslanting palpebral fissures, wide nasal bridge). Patients also present brain (e.g. hypoplastic cerebellum, ventricular asymmetry), renal (e.g. small dysplastic kidneys), and/or genital (undescended testis, small penis, hypoplastic labia majora) anomalies. Digital and skin pigmentation abnormalities have also been reported." "" + "chromosome 15 disorder" "Chromosomal disorder in which chromosome 15 is affected." "" + "distal trisomy 15q" "" + "mosaic trisomy 16" "Mosaic trisomy 16 is a rare chromosomal anomaly syndrome with a highly variable phenotype ranging from minor anomalies with normal development to intrauterine growth retardation, abnormal skin pigmentation, craniofacial and body asymmetry, cardiac (e.g. ventricular septal defect) and genital (e.g. hypospadias, cryptorchidism) anomalies, scoliosis and hearing loss to neonatal death. Additional features observed include skeletal malformations (e.g. clino/polydactyly, talipes), mild facial dysmorphism, and developmental delay." "" + "chromosome 16 trisomy" "" + "mosaic trisomy 17" "Mosaic trisomy 17 is a rare chromosomal anomaly syndrome, with a highly variable clinical presentation, mostly characterized by growth delay, intellectual disability, body asymmetry with leg length differentiation, scoliosis, and congenital heart anomalies (e.g. ventricular septal defect). Prenatal ultrasound findings include intrauterine growth retardation, nuchal thickening brain anomalies (e.g. cerebellar hypoplasia), pleural effusion and single umbilical artery. Patients with no associated malformations have also been reported." "" + "high anorectal malformation" "High anorectal malformation is a rare, genetic, non-syndromic subtype of anorectal malformation, resulting from a developmental defect during embryogenesis, characterized by a wide spectrum of anorectal anomalies, with or without a rectourogenital fistula, located above the pubococcygeal line (i.e. anorectal agenesis, rectal agenesis, atresia, or stenosis). Patients may present with meconuria, pyuria, strangury, and fecal and urinary incontinence." "" + "intermediate anorectal malformation" "Intermediate anorectal malformation is a rare, genetic, non-syndromic subtype of anorectal malformation, resulting from a developmental defect during embryogenesis, characterized by a wide spectrum of anorectal anomalies lying between the pubococcygeal line and the ischial tuberosity (e.g., rectovestibular and rectovaginal fistulas in the female, rectobulbar fistula in the male, and anal agenesis). Patients may present with failure to pass meconium, failure to thrive, and recurrent urinary tract infections." "" + "low anorectal malformation" "Low anorectal malformation is a rare, genetic, non-syndromic subtype of anorectal malformation, resulting from a developmental defect during embryogenesis, characterized by a wide spectrum of anorectal anomalies lying below the ischial tuberosity (e.g., anovestibular fistula in female, perineal and anocutaneous fistulas, and anal stenosis). Patients may present with failure to pass meconium, failure to thrive, and chronic constipation." "" + "rectal duplication" "Rectal duplication is a rare congenital anorectal malformation characterized by an egg-like, cystic, mucus-filled mass, composed of intestinal mucosal lining and smooth muscle tissue. Commonly they present in childhood with symptoms of recurrent urinary tract infections, gastroenteritis, obstruction, perianal sepsis and rectal bleeding. Drainage of mucus or pus from the anus is also a typical presenting sign. The majority are found in the retro-rectal space where they communicate with, or are contiguous to, the rectum." "" + "qualitative or quantitative defects of nebulin" "" + "adult-onset nemaline myopathy" "Adult-onset nemaline myopathy is a rapidly progressive type of nemaline myopathy (NM) characterized by a very late onset." "" + "trisomy 18p" "Trisomy 18p is an extremely rare chromosomal anomaly with a poorly defined clinical phenotype. Reported manifestations include short stature, mild, moderate or severe developmental delay and intellectual disability, variable but mild facial dysmorphism, and epilepsy." "" + "distal trisomy 18q" "" + "partial trisomy of the long arm of chromosome 18" "" + "periventricular leukomalacia" "Periventricular leukomalacia (PVL) is a brain injury disorder characterized by the death of the white matter of the brain due to softening of the brain tissue. It can affect fetuses or newborns, and premature babies are at the greatest risk of the disorder. PVL is caused by a lack of oxygen or blood flow to thearea around the ventricles of the brain, which results in the death of brain tissue. Although babies with PVL generally have no apparent signs or symptoms of the disorder at delivery, they are at risk for motor disorders, cerebral palsy, delayed mental development, coordination problems, and vision and hearing impairments. There is no cure for PVL. Treatment is generally supportive. Prognosis is dependent on the extent of damage to the ventricles." "" + "idiopathic bilateral vestibulopathy" "Idiopathic bilateral vestibulopathy is a rare otorhinolaryngologic disease characterized by dysfunction of both peripheral labyrinths or of the eighth nerves, which presents with persistent unsteadiness of gait (particularly in darkness, during eye closure or under impaired visual conditions, or when standing/walking on uneven, soft or wobbly ground) and oscillopsia associated with head movements. The disease may be progressive, presenting no episodes of vertigo, or sequential, presenting recurrent episodes of vertigo." "" + "distal trisomy 19q" "Distal trisomy 19q is a rare chromosomal anomaly syndrome characterized by low birth weight, developmental delay, intellectual disability, short stature, craniofacial dysmorphism (incl. microcephaly, midface hypoplasia, hypertelorism, flat nasal bridge, ear anomalies, short philtrum, downturned corners of the mouth, micrognathia) and a short neck with redundant skin folds. Additional features may include hypotonia, skeletal anomalies (e.g. clino/camptodactyly), seizures and congenital cardiac, urogenital and gastrointestinal malformations." "" + "partial duplication of the long arm of chromosome 19" "" + "microcephaly-polymicrogyria-corpus callosum agenesis syndrome" "Microcephaly-polymicrogyria-corpus callosum agenesis syndrome is a rare, genetic, central nervous system malformation syndrome characterized by marked prenatal-onset microcephaly, severe motor delay with hypotonia, bilateral polymicrogyria, corpus callosum agenesis, ventricular dilation, small cerebellum and early lethality." "" + "obsolete Amish infantile epilepsy syndrome" "" "true" + "6q16 deletion syndrome" "Deletion 6q16 syndrome is a Prader-Willi like syndrome characterized by obesity, hyperphagia, hypotonia, small hands and feet, eye/vision anomalies, and global developmental delay." "" + "Prader-Willi-like syndrome" "Prader-Willi-like syndrome is a rare, genetic, endocrine disease characterized by manifestations of a Prader-Willi syndrome phenotype (including obesity, hyperphagia, hypotonia, psychomotor delay, intellectual disability, small hands/feet, hypogonadism, growth hormone deficiency and characteristic facial features) ocurring in the absence of 15q11-q13 genomic abnormalities." "" + "obsolete amelogenesis imperfecta-gingival hyperplasia syndrome" "" "true" + "craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome" "Capra-DeMarco syndrome is characterized by sagittal craniosynostosis, hydrocephalus, Chiari I malformation and radioulnar synostosis. Other clinical findings include blepharophimosis, small low-set ears, hypoplastic philtrum, kidney malformation, and hypogenitalism." "" + "intellectual disability-cataracts-kyphosis syndrome" "This syndrome is characterized by severe intellectual deficit, kyphosis with onset in childhood and cataract with onset in late adolescence." "" + "cap myopathy" "Cap myopathy is a very rare congenital myopathy presenting a weakness of facial and respiratory muscles associated with craniofacial and thoracic deformities, as well as weakness of limb proximal and distal muscles. Onset is at birth or in childhood, weakness progression is slow but may lead to a severe and even fatal prognosis." "" + "obsolete cylindrical spirals myopathy" "" "true" + "myopathy with hexagonally cross-linked tubular arrays" "Myopathy with hexagonally cross-linked tubular arrays is a rare, congenital, non-dystrophic, mild, slowly progressive, proximal myopathy characterized by exercise intolerance and post-exercise myalgia without rhabdomyolysis, associated with highly organized hexagonally cross-linked tubular arrays in skeletal muscle biopsy. Additional features may include muscle atrophy (or diffuse hypotrophy), myalgia with or without musclar weakness, paresis of truncal and limb-girdle musculature, minimal ptosis, lumbar hyperlordosis, decreased deep tendon reflexes, contractures and pes equinovarus." "" + "primary cutaneous T-cell lymphoma" "" + "trisomy 10p" "Trisomy 10p is a syndrome of mental retardation/multiple congenital malformations (MR-MCA) that is caused by the total or partial duplication of the short arm of chromosome 10." "" + "partial duplication of the short arm of chromosome 10" "" + "mosaic trisomy 2" "Mosaic trisomy 2 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, principally characterized by intrauterine growth restriction, growth and motor delay, craniofacial dysmorphism (e.g. microcephaly, hypertelorism, micro/anophthalmia, midface hypoplasia, cleft lip/palate), congenital heart and neural tube defects, as well as various skeletal (e.g. scoliosis, radioulnar hypoplasia, preaxial polydactyly) and gastrointestinal (e.g. intestinal malrotation, Hirschsprung disease) anomalies. Central nervous system malformations (including ventriculomegaly, thin corpus callosum, spina bifida) have also been reported." "" + "chromosome 2 disorder" "Chromosomal disorder in which chromosome 2 is affected." "" + "mosaic trisomy 20" "Mosaic trisomy 20 is a rare chromosomal anomaly syndrome with a highly variable phenotype ranging from normal (in the majority of cases) to a mild, subtle phenotype principally characterized by spinal abnormalities (i.e. stenosis, vertebral fusion, and kyphosis), hypotonia, lifelong constipation, sloped shoulders, skin pigmentation abnormalities (i.e. linear and whorled nevoid hypermelanosis) and significant learning disabilities despite normal intelligence. More severe phenotypes, with patients presenting psychomotor and speech delay, mild facial dysmorphism, cardiac (i.e. ventricular septal defect, dysplastic tricuspid mitral valve) and renal anomalies (e.g. horseshoe kidneys), have also been reported." "" + "chromosome 20 trisomy" "Chromosome 20 trisomy, (also called trisomy 20) is a condition in which a fetus or individual has an extra full or partial copy of chromosome 20 in some or allof of his/her cells. An extra full copy of chromosome 20 in all of a person's cells is rare, and almost all fetuses with this do not survive past the first trimester ofpregnancy. The presence of an extra copyof only part of chromosome 20 is called partial trisomy 20; and an extra copy of chromosome 20 in only some of a person's cells is called mosaic trisomy 20. Mosaic trisomy 20 is the most common type of chromosome 20 trisomy and is one of the more common chromosomal abnormalities found during prenatal diagnostic testing. Studies have shown that the child is normal in the vast majority of prenatally diagnosed individuals. However, features that have been reported include spinal abnormalities (including spinal stenosis, vertebral fusion, and kyphosis), hypotonia (decreased muscle tone), life long constipation, sloped shoulders, and significant learning disabilities despite normal intelligence. Trisomy 20 usually results from an error that occurs when an egg or sperm cell develops (before fertilization); mosaic trisomy 20 usually results from errors in cell division soon after fertilization." "" + "cholera" "Cholera is an infectious disease, caused by intestinal infection with Vibrio cholerae, characterized by massive watery diarrhea and severe dehydration that can lead to shock and death if left untreated." "" + "trisomy 4p" "Trisomy 4p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 4, with a highly variable phenotype, typically characterized by pre- and postnatal growth delay, psychomotor developmental delay and craniofacial dysmorphism (microcephaly, prominent glabelle, hypertelorism, enlarged ears with abnormal helix and antihelix, bulbous nose with flat or depressed nasal bridge, long philtrum, retrognathia with pointed chin). Additional features include skeletal (rocker bottom feet, arachnodactyly, camptodactyly) and renal malformations, cardiac defects, ocular abnormalities and abnormal genitalia in males." "" + "partial duplication of the short arm of chromosome 4" "" + "trisomy 5p" "Trisomy 5p is a chromosomal abnormality resulting from the duplication of a segment of variable size of the short arm of chromosome 5, which usually involves the distal band 5p15. The clinical presentation is variable but is always associated with severe intellectual deficit." "" + "distal trisomy 6p" "Distal trisomy of the short arm of chromosome 6 is characterized by pre- and postnatal growth retardation, a pattern of specific facial features (mostly of the eyes), microcephaly, and developmental delay." "" + "partial duplication of the short arm of chromosome 6" "Chromosome 6p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 6. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 6p duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. This condition can occur sporadically or be inherited from aparent who is either mildy affected (has the deletion) or carries a balanced translocation. Treatment is based on the signs and symptoms present in each person." "" + "mosaic trisomy 7" "Mosaic trisomy 7 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, mostly characterized by blaschkolinear skin pigmentary dysplasia, body asymmetry, enamel dysplasia, and developmental and growth delay. Intellectual disability, facial dysmorphism (e.g. frontal bossing, abnormal palpebral fissures, strabismus, abnormally shaped ears, and micrognathia), and genital anomalies (e.g. undescended testes) have also been observed. It has been reported to be associated with maternal uniparental disomy of chromosome 7, resulting in a Silver-Russell syndrome phenotype. Cases with no associated malformations have also been reported." "" + "trisomy 8q" "Trisomy 8q is a very rare disorder characterized by duplication of the long arm of chromosome 8. The most commonly associated abnormalities include low birth weight, craniofacial abnormalities (prominent forehead, flat occiput, hypertelorism, upslanting palpebral fissures, ear and nose deformities, thin upper lips), congenital heart defects, skeletal defects, psychomotor retardation. Phenotypic features vary in relation to the duplication size." "" + "partial duplication of the long arm of chromosome 8" "" + "fibular dimelia-diplopodia syndrome" "Fibular dimelia-diplopodia syndrome is a rare developmental anomaly." "" + "thoraco-abdominal enteric duplication" "Thoraco-abdominal enteric duplication is a rare, syndromic intestinal malformation characterized by single or multiple smooth-walled, often tubular, cystic lesions, which on occasion contain ectopic gastric mucosa, located in the thorax (usually in the posterior mediastinum and to the right of the midline) and in the abdomen. Infants usually present with respiratory distress and older patients with heartburn, abdominal pain, vomiting and/or malena. Vertebral anomalies in the lower cervical spine, with CNS involvement, are frequently present and complications, such as bowel obstruction, perforation and intussusception, have also been reported." "" + "disorder of plasmalogens biosynthesis" "" + "adult hypothyroidism" "A hypothyroidism that occurs in an adult." "" + "permanent congenital hypothyroidism" "Permanent congenital hypothyroidism is a type of congenital hypothyroidism (CH), a thyroid hormone deficiency present from birth." "" + "45,X/46,XY mixed gonadal dysgenesis" "45,X/46,XY mixed gonadal dysgenesis (45,X/46,XY MGD) is a disorder of sex development (DSD) associated with a numerical sex chromosome abnormality resulting from Y-chromosome mosaicism and leading to abnormal gonadal development." "" + "Y chromosome number anomaly" "True" + "monosomy" "A chromosomal abnormality consisting of the absence of one chromosome from the normal diploid number." "" + "facial dysmorphism-shawl scrotum-joint laxity syndrome" "Facial dysmorphism-shawl scrotum-joint laxity syndrome is characterised by facial dysmorphism (hypertelorism, telecanthus, downslanting palpebral fissures, ptosis, malar hypoplasia, broad nasal bridge, thin upper lip, smooth philtrum, and low-set prominent ears) and associated with joint anomalies (genu valgum or cubitus valgus, hyper-extensible joints, etc.). It has been described in two patients (a mother and her son). The boy also had hypoplastic shawl scrotum and cryptorchidism, and the mother had mild intellectual deficit." "" + "dysmorphism-cleft palate-loose skin syndrome" "Dysmorphism-cleft palate-loose skin syndrome is a rare, genetic developmental defect during embryogenesis characterized by severe psychomotor delay, intellectual disability, congential, symmetrical circumferential skin creases of arms and legs, cleft palate, and facial dysmorphism (incl. elongated face, high forehead, blepharophimosis, short palpebral fissures, microphthalmia, microcornea, epicanthic folds, telecanthus, microtia, posteriorly angulated ears, broad nasal bridge, microstomia and micrognathia). Additional features reported include short stature, microcephaly, hypotonia, pectus excavatum, severe scoliosis, hypoplastic scrotum, and mixed hearing loss." "" + "Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1" "" + "Prader-Willi syndrome due to paternal 15q11q13 deletion" "" + "Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2" "" + "Prader-Willi syndrome due to translocation" "" + "Prader-Willi syndrome due to imprinting mutation" "" + "symptomatic form of hemophilia A in female carriers" "A form of hemophilia A that manifests in some women with mutations in the F8 gene (Xq28), encoding coagulation factor VIII." "" + "symptomatic form of hemophilia B in female carriers" "A form of hemophilia B (see this term) that manifests in some women with mutations in the F9 gene (Xq28), encoding coagulation factor IX." "" + "non-acquired combined pituitary hormone deficiencies without extra-pituitary malformations" "True" + "non-acquired combined pituitary hormone deficiency" "Congenital hypopituitarism is characterized by multiple pituitary hormone deficiency, including somatotroph, thyrotroph, lactotroph, corticotroph or gonadotroph deficiencies, due to mutations of pituitary transcription factors involved in pituitary ontogenesis." "" + "transient congenital hypothyroidism" "A common, self-limiting thyroid disorder seen in preterm infants that is characterized by abnormally low serum levels of thyroxine and free thyroxine with normal serum levels of thyroid stimulating hormone." "" + "moderate multiminicore disease with hand involvement" "" + "antenatal multiminicore disease with arthrogryposis multiplex congenita" "" + "undifferentiated embryonal sarcoma of the liver" "Embryonal sarcoma of the liver is a rare primary malignant hepatic neoplasm of childhood of mesenchymal origin. It can rarely occur in adults. It is characterized by abdominal mass, right upper quadrant or epigastric pain, nausea, anorexia, intermittent fever or headache." "" + "acute lung injury" "A condition of lung damage that is characterized by bilateral pulmonary infiltrates (pulmonary edema) rich in neutrophils, and in the absence of clinical heart failure. This can represent a spectrum of pulmonary lesions, endothelial and epithelial, due to numerous factors (physical, chemical, or biological)." "" + "osteosclerosis-developmental delay-craniosynostosis syndrome" "This newly described syndrome is characterized by osteosclerosis, developmental delay and craniosynostosis." "" + "hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation" "" + "wound botulism" "Botulism that is caused by toxin that is produced in a wound contaminated with Clostridium botulinum." "" + "toxin-mediated infectious botulism" "Aform of botulism (see this term), a rare acquired neuromuscular junction disease, characterized by descending flaccid paralysis caused by botulinum neurotoxins (BoNTs), produced in vivo leading to toxin-mediated infection. Infectious botulism includes wound botulism and intestinal toxemia botulism (infant botulism and adult intestinal botulism)." "" + "infant botulism" "A botulism that occurs between 28 days to one year of life.." "" + "intestinal botulism" "A rare form of botulism, a rare acquired neuromuscular junction disease with descending flaccid paralysis caused by botulinum neurotoxins (BoNTs), and is due to intestinal colonization by Clostridium botulinum leading to toxin-mediated infection with toxemia. The disease affects infants (infant botulism) and very rarely adults (adult intestinal botulism)." "" + "adult intestinal botulism" "A very rare form of botulism, a rare acquired neuromuscular junction disease with descending flaccid paralysis caused by botulinum neurotoxins (BoNTs), and is due to intestinal colonization by Clostridium botulinum leading to toxin-mediated infection with toxemia." "" + "myopic macular degeneration" "" + "folliculotropic mycosis fungoides" "Folliculotropic mycosis fungoides is a rare variant of mycosis fungoides (MF), a form of cutaneous T-cell lymphoma, and is characterized by the presence of folliculotropic infiltrates in patch-plaque lesions usually involving the head and neck area." "" + "secondary catabolic mucinosis of skin" "" + "mycosis fungoides variant" "" + "localized pagetoid reticulosis" "A variant of mycosis fungoides, characterized by an exclusively intraepidermal atypical (cerebriform) lymphocytic infiltrate. Patients present with a localized psoriasiform or hyperkeratotic patch or plaque, usually in the extremities. Extracutaneous dissemination of the disease has never been reported." "" + "primary cutaneous CD4+ small/medium-sized pleomorphic T-cell lymphoma" "" + "indolent primary cutaneous T-cell lymphoma" "" + "primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma" "Primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma is a rare form of primary cutaneous T-cell lymphoma characterized by rapidly progressing, localized or disseminated nodules, tumors or eczematous skin lesions. It has a particularly aggressive clinical course with a high tendency to spread, in advanced stages, to extracutaneous locations (the central nervous system, lung, testes). Lymph nodes are often spared." "" + "aggressive primary cutaneous T-cell lymphoma" "" + "primary cutaneous gamma/delta-positive T-cell lymphoma" "Primary cutaneous gamma/delta-positive T-cell lymphoma is a rare, usually aggressive, subtype of cutaneous T-cell lymphoma characterized by infiltration of the epidermis, dermis or subcutaneous tissue by a clonal population of mature, gamma/delta positive cytotoxic T-cells. Typically it presents with ulcerating plaques, tumors, or subcutaneous nodules on the skin of the extremities, however, frequent involvement of mucosal and extranodal sites (such as the nasal cavity, gastrointestinal tract or lungs) is also observed. Cases associated with panniculitis may present with hemophagocytic syndrome (abrupt onset of fever, rash, cytopenia, hepatosplenomegaly and neurological compromise). Infiltration of lymph nodes, spleen and bone marrow is uncommon and resistance to multilineage chemotherapy is reported." "" + "primary cutaneous marginal zone B-cell lymphoma" "Extranodal lymphoma of lymphoid tissue associated with mucosa that is in contact with exogenous antigens. Many of the sites of these lymphomas, such as the stomach, salivary gland, and thyroid, are normally devoid of lymphoid tissue. They acquire mucosa-associated lymphoid tissue (malt) type as a result of an immunologically mediated disorder." "" + "indolent primary cutaneous B-cell lymphoma" "" + "primary cutaneous follicle center lymphoma" "A primary lymphoma of the skin composed of various numbers of small and large irregular neoplastic follicle center cells. Its morphologic pattern can be nodular, diffuse, or nodular and diffuse. It presents with solitary or grouped plaques and tumors, and it usually involves the scalp, forehead, or trunk. It rarely involves the legs. This type of cutaneous lymphoma tends to remain localized to the skin." "" + "obsolete primary cutaneous diffuse large B-cell lymphoma, leg type" "" "true" + "primary cutaneous B-cell lymphoma" "" + "obesity due to congenital leptin resistance" "True" + "autosomal dominant spondylocostal dysostosis" "Autosomal dominant spondylocostal dysostosis is a very rare and mild form of spondylocostal dysostosis characterized by vertebral and costal segmentation defects, often with a reduction in the number of ribs." "" + "uterovaginal malformation" "" + "non-syndromic uterovaginal malformation" "A uterovaginal malformation that is not part of a larger syndrome." "" + "non-syndromic urogenital tract malformation of female" "A non-syndromic urogenital tract malformation that involves the female organism." "" + "mullerian aplasia" "" + "unilateral aplasia of the mullerian ducts" "" + "true unicornuate uterus" "True unicornuate uterus is a rare, non-syndromic uterovaginal malformation characterized by a crescent-shaped, small-sized uterus containing a single horn and fallopian tube with no rudimentary horn. Urinary tract anomalies are frequently associated." "" + "pseudounicornuate uterus" "Pseudounicornuate uterus is a rare, non-syndromic uterovaginal malformation characterized by a crescent-shaped, small-sized uterus containing a single horn and fallopian tube associated with a rudimentary second horn (which can be solid or contain a cavity with functioning endometrium and be communicating or non-communicating). Urinary tract anomalies are frequently associated." "" + "didelphys uterus" "" + "bicornuate uterus" "" + "Bicervical bicornuate uterus and blind hemivagina" "" + "Bicervical bicornuate uterus with patent cervix and vagina" "" + "Unicervical bicornuate uterus" "" + "cordiform uterus" "" + "septate uterus" "" + "female infertility due to an implantation defect" "True" + "complete septate uterus" "Complete septate uterus is a rare, non-syndromic uterovaginal malformation characterized by a uterus that has a longitudinal septum which elongates from the uterine fundus to the internal or external cervical os. Most often women are asymptomatic, however dysmenorrhoea, unilateral obstruction, and endometriosis could be observed. Unlike urinary tract abnormalities, which are very rarely associated, poor reproductive outcome is frequent." "" + "partial septate uterus" "Partial septate uterus is a rare, non-syndromic uterovaginal malformation characterized by a uterus that has a longitudinal septum which extends from the uterine fundus and does not reach the internal cervical os (variable lengths and widths may be observed). Although frequently asymptomatic, an increased risk of poor reproductive outcome has been observed. Urinary tract abnormalities are very rarely associated." "" + "uterine hypoplasia" "" + "agenesis and aplasia of uterine body" "" + "uterine cervical aplasia and agenesis" "" + "obsolete rare vaginal malformation" "True" "true" + "septate vagina" "" + "longitudinal vaginal septum" "" + "transverse vaginal septum" "" + "obsolete rare breast malformation" "True" "true" + "obsolete rare non-malformative gynecologic or obstetric disease" "True" "true" + "obsolete rare non-malformative breast disease" "True" "true" + "obsolete rare non-malformative uterovaginal or vulvovaginal disease" "True" "true" + "anomaly of puberty or/and menstrual cycle" "" + "obsolete rare uterine adnexal tumor" "True" "true" + "obsolete embryonal carcinoma" "" "true" + "obsolete benign tumor of fallopian tubes" "" "true" + "obsolete malignant tumor of fallopian tubes" "" "true" + "obsolete rare breast tumor" "Any of the forms of breast neoplasm that have a rare incidence." "True" "true" + "obsolete rare benign breast tumor" "Any of the forms of breast benign neoplasm that have a rare incidence." "True" "true" + "benign breast phyllodes tumor" "A usually unilateral, benign and well circumscribed biphasic neoplasm that arises from the breast. It usually affects middle-aged women. It is characterized by the presence of a double layer of epithelial cells that are arranged in clefts, surrounded by a cellular, monomorphic spindle cell mesenchymal component. Mitoses are rare. Necrotic changes may be present in large tumors." "" + "giant adenofibroma of the breast" "Giant adenofibroma of the breast is a rare, benign, fibroepithelial tumor which usually manifests as a unilateral, painless, firm, mobile, slow-growing mass in the breast that measures more than 5 cm. It can be associated with significant asymmetry and/or deformity of the breast and hormonal changes (e.g. puberty, pregnancy, oral contraceptives) can lead to its marked enlargement." "" + "Paget disease of the nipple" "Paget disease of the nipple describes a rare presentation of breast cancer, seen most frequently in women aged 50-60, manifesting with nipple drainage and itching, erythema, crusty and excoriated nipple, thickened plaques, and hyperpigmentation (less frequently). It is due to tumor cells invading the nipple-areola complex and represents 1-3% of all new breast cancer diagnoses." "" + "benign ductal tumor of breast" "" + "obsolete rare non-malformative uterine adnexal disease" "True" "true" + "obsolete rare vulvovaginal tumor" "True" "true" + "obsolete rare disease with autism" "" "true" + "obsolete gastroesophageal tumor" "A tumor involving the gastroesophageal tissue." "" "true" + "obsolete rare tumor of pancreas" "Any of the forms of pancreatic neoplasm that have a rare incidence." "True" "true" + "hidrotic ectodermal dysplasia, Halal type" "Hidrotic ectodermal dysplasia, Halal type is a form of ectodermal dysplasia syndrome characterized by trichodysplasia, with absent eyebrows and eyelashes, onychodysplasia, mild retrognathia, abnormal dermatoglyphics (excess of whorls on fingertips, radial loop on finger, hypothenar pattern), intellectual disability and normal teeth and sweating. Additional variable manifestations include high implanted or prominent ears, mild hearing loss, supernumerary nipple, cafC)-au-lait spots, keratosis pilaris, and irregular menses. To date, four individuals from 2 generations of a consanguineous family of Portuguese descent have been described in the literature. Males and females were equally affected. Hidrotic ectodermal dysplasia, Halal type is inherited in an autosomal recessive manner." "" + "obsolete rare insulin-resistance syndrome" "A cluster of closely related metabolic abnormalities associated with insulin resistance that confer an increased risk of the development of type 2 diabetes and cardiovascular disease. These abnormalities may include obesity, high blood pressure, abnormal cholesterol levels, proteinuria, and/or polycystic ovary syndrome." "True" "true" + "obsolete rare diabetes mellitus type 1" "Any of the forms of type 1 diabetes mellitus that have a rare incidence." "True" "true" + "obsolete rare diabetes mellitus type 2" "True" "true" + "obsolete other rare diabetes mellitus" "True" "true" + "obsolete rare hypothalamic or pituitary disease" "True" "true" + "obsolete rare disorder with congenital hypogonadotropic hypogonadism" "True" "true" + "obsolete hypogonadotropic hypogonadism associated with other endocrinopathies" "" "true" + "obsolete rare hypothyroidism" "Any of the forms of hypothyroidism that have a rare incidence." "True" "true" + "obsolete rare hyperthyroidism" "Any of the forms of hyperthyroidism that have a rare incidence." "True" "true" + "obsolete rare hypoparathyroidism" "Rare hypoparathyroidism." "True" "true" + "obsolete rare hyperparathyroidism" "Rare hyperparathyroidism." "True" "true" + "obsolete rare genetic adrenal disease" "True" "true" + "obsolete rare primary hyperaldosteronism" "Any of the forms of primary aldosteronism that have a rare incidence." "True" "true" + "hypoaldosteronism disease" "" + "obsolete rare inherited hyperlipidemia" "True" "true" + "obsolete rare hypolipidemia" "True" "true" + "obsolete rare disorder with hypergonadotropic hypogonadism" "True" "true" + "epimetaphyseal skeletal dysplasia" "" + "chromomycosis" "Chromomycosis is a chronic cutaneous and subcutaneous fungal infection, found mainly in subtropical and tropical areas (in soil and plant debris and transmitted by traumatic inoculation), and characterized clinically by slow growing, verrucous nodules, squamous plaques, or chronic limited lesions which are most commonly found on the lower limbs and which are characterized histologically by the presence of muriform cells. It is caused by dematiaceous fungi, with the main etiological agents being Fonsecaea pedrosoi, Phialophora verrucosa and Cladophialophora carrionii. Rarely, it can be caused by Rhinocladiella aquaspersa." "" + "obsolete rare acquired hemolytic anemia" "Hemolytic anemia, the cause of which is not present at birth." "True" "true" + "macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss" "An inherited giant platelet disorder with a complex phenotype characterized by congenital thrombocytopenia and possible subsequent manifestations of sensorineural hearing loss, presenile cataracts, elevation of liver enzymes, and/or progressive nephropathy often leading to end-stage renal disease (ESRD). Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly and Sebastian syndrome, previously described as distinct disorders, represent some of the different clinical presentations of MYH9-RD." "" + "obsolete rare thrombotic disease of hematologic origin" "True" "true" + "cerebellar malformation" "" + "obsolete rare neuroinflammatory or neuroimmunological disease" "True" "true" + "obsolete malignant glioma" "" "true" + "obsolete rare neurodegenerative disease" "Rare neurodegenerative disease." "True" "true" + "syndromic neurometabolic disease with non-X-linked intellectual disability" "True" + "channelopathy with epilepsy" "True" + "acquired peripheral neuropathy" "An instance of peripheral neuropathy that is acquired during the lifetime of the individual." "" + "idiopathic eosinophilic pneumonia" "" + "secondary interstitial lung disease in childhood and adulthood associated with a connective tissue disease" "True" + "respiratory or thoracic malformation" "" + "obsolete rare urogenital tumor" "True" "true" + "non-syndromic urogenital tract malformation of male and female" "" + "obsolete rare tumor of endocrine glands" "A rare tumor that involves the endocrine gland." "True" "true" + "obsolete rare inflammatory eye disease" "True" "true" + "obsolete systemic disease" "" "true" + "obsolete systemic autoimmune disease" "An autoimmune form of systemic disease." "" "true" + "epiphyseal dysplasia-hearing loss-dysmorphism syndrome" "Epiphyseal dysplasia-hearing loss-dysmorphism syndrome is a rare multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay, intellectual disability, short stature, sensorineural hearing impairment, facial dysmorphism (incl. epicanthus, broad, depressed nasal bridge, broad, fleshy nasal tip, mildly anteverted nares, deep nasolabial folds, broad mouth with thin upper lip) and skeletal anomalies (incl. abnormally placed thumbs, brachydactyly, scoliosis, dysplastic carpal bones). Patients also present severe behavior disturbances (aggression, hyperactivity), as well as hypopigmented skin lesions and hypoplastic digital patterns. There have been no further descriptions in the literature since 1992." "" + "eosinophilic granulomatosis with polyangiitis" "Eosinophilic granulomatosis with polyangiitis (EGPA), previously known as Churg-Strauss syndrome, is a systemic vasculitis of small-to medium vessels, characterized by asthma, transient pulmonary infiltrates, and hypereosinophilia." "" + "systemic inflammatory disease associated with an acquired peripheral neuropathy" "True" + "non-familial rare disease with dilated cardiomyopathy" "True" + "axial mesodermal dysplasia spectrum" "Axial mesodermal dysplasia spectrum is a rare developmental defect during embryogenesis syndrome characterized by congenital manifestations of both oculo-auriculo-vertebral spectrum and caudal regression sequence. Phenotype is highly variable but patients typically present facial dysmorphism (incl. asymmetry, hypertelorism), auricular abnormalities (e.g. preauricular tags, microtia, absence of middle ear ossicles), skeletal malformations (hemivertebrae, hip dislocation, sacral agenesis/dysplasia, talipes equinovarus, flexion deformity of lower limbs), cardiac defects (dextrocardia, septal defects), renal and genitourinary anomalies (such as renal agensis/dysplasia, abnormal external genitalia, cryptorchidia), as well as anal anomalies such as anal atresia and rectovesical fistula." "" + "obsolete rare genetic epidermal disorder" "True" "true" + "obsolete rare genetic skin vascular disorder" "True" "true" + "obsolete rare genetic subcutaneous tissue disorder" "True" "true" + "obsolete genetic neurodegenerative disease" "" "true" + "obsolete rare genetic headache disorder" "True" "true" + "obsolete rare hereditary ataxia" "Rare hereditary ataxia." "" "true" + "obsolete rare genetic movement disorder" "Rare genetic movement disorder." "True" "true" + "obsolete rare genetic bone disease" "Rare genetic bone disease." "True" "true" + "obsolete obsolete rare genetic palpebral, lacrimal system and conjunctival disease" "" "true" + "obsolete rare genetic refraction anomaly" "True" "true" + "monogenic diabetes" "Rare genetic diabetes mellitus." "" + "obsolete rare genetic thyroid disease" "Rare genetic thyroid disease." "True" "true" + "obsolete rare genetic parathyroid disease and phosphocalcic metabolism disorder" "True" "true" + "obsolete rare constitutional anemia" "A form of anemia (disease) that is both rare and inborn." "True" "true" + "obsolete rare genetic coagulation disorder" "" "true" + "obsolete rare genetic gynecological and obstetrical diseases" "True" "true" + "obsolete inherited gynecological tumor" "" "true" + "obsolete rare genetic intellectual disability" "Rare genetic intellectual disability." "True" "true" + "obsolete rare genetic immune disease" "Rare genetic immune system disease." "True" "true" + "bone dysplasia, Azouz type" "Bone dysplasia Azouz type is a form of generalized enchondromatosis with involvement of the spine (so called spondyloenchondromatosis). Spondyloenchondromatosis is a very rare skeletal dysplasia characterized by severe platyspondyly, and mild involvement of hands and feet." "" + "scimitar syndrome" "Scimitar syndrome is characterized by a combination of cardiopulmonary anomalies including partial anomalous pulmonary venous return connection of the right lung to the inferior caval vein leading to the creation of a left-to-right shunt." "" + "multicystic dysplastic kidney" "Multicystic dysplastic kidney (MCDK) is a congenital anomaly of the kidney and urinary tract (CAKUT) in which one or both kidneys (unilateral or bilateral MCDK respectively) are large, distended by multiple cysts, and non-functional." "" + "obsolete congenital valvular dysplasia" "" "true" + "obsolete progressive cone dystrophy" "" "true" + "muscular dystrophy-white matter spongiosis syndrome" "" + "melorheostosis with osteopoikilosis" "Melorheostosis with osteopoikilosis is a rare sclerosing bone dysplasia, combining the clinical and radiological features of melorheostosis and osteopoikilosis, that has been reported in some families with osteopoikilosis and that is characterized by a variable presentation of limb pain and deformities." "" + "obsolete systemic capillary leak syndrome" "" "true" + "ectopia lentis-chorioretinal dystrophy-myopia syndrome" "Ectopia lentis-chorioretinal dystrophy-myopia syndrome is characterised by anomalies of the lens (ectopia and cataracts) and retina (generalized tapetoretinal dystrophy and total retinal detachment). Myopia has also been reported. It has been described in four members of the same family, all resulting from a consanguineous marriage. The mode of transmission is autosomal recessive." "" + "familial isolated hypoparathyroidism due to impaired PTH secretion" "" + "Ehlers-Danlos syndrome, kyphoscoliotic type 1" "A form of Ehlers-Danlos syndrome characterized by severe hypotonia and kyphoscoliosis at birth, generalized joint hyperextensibility and ocular globe fragility." "" + "aminopterin/methotrexate embryofetopathy" "Aminopterin/Methotrexate embryofetopathy is a syndrome of developmental anomalies characterized by growth deficiency, facial dysmorphism and skull, limb and neural defects secondary to maternal exposure to aminopterin or methotrexate (MTX) during pregnancy." "" + "indomethacin embryofetopathy" "Indomethacin embryofetopathy refers to the manifestations that may be observed in a fetus or newborn when the mother has taken indomethacin, a potent prostaglandin inhibitor and tocolytic agent that can cross placenta, during pregnancy. Reported adverse fetal/neonatal effects include decreased renal function resulting in oligohydramnios, closure of the ductus arteriosus, and delayed cardiovascular adaptation at birth. These effects are usually transient and reversible. Indomethacin may also be a risk factor for cerebral injury (periventricular leukomalacia) and necrotizing enterocolitisin preterm infants." "" + "cocaine embryofetopathy" "A group of clinical signs observed in newborns exposed in utero to cocaine, a short-acting central nervous system stimulant used as a recreational drug through inhalation of the powder or intravenous injection. Cocaine use during pregnancy is associated with intrauterine growth restriction, low birth weight, seizures, respiratory distress (decreased apnea density and periodic breathing), feeding difficulties, irritability and lability of state, decreased behavioral and autonomic regulation, poor alertness and orientation and cognitive impairment (impaired auditory information processing , visual-spatial delay and subtle language delay) in the offspring." "" + "fetal hydantoin syndrome" "Fetal hydantoin syndrome is a drug-related embryofetopathy that can occur when an embryo/fetus is exposed to the anticonvulsant drug phenytoin, characterized by distinct craniofacial anomalies (hypertelorism and epicanthal folds, short nose and deep nasal bridge, malformed and low set ears, short neck) as well as hypoplastic distal phalanges and underdevelopment of nails of fingers and toes, prenatal and postnatal growth retardation, and neurological impairment (at a 2-3 times higher risk than that of the general population) including cognitive deficits and motor developmental delay. Less commonly, microcephaly, ocular defects, oral clefts, umbilical and inguinal hernias, hypospadias and cardiac anomalies have also been reported." "" + "vitamin K-antagonist embryofetopathy" "A teratogenic disorder observed in a newborn or child of a mother who was exposed to warfarin during pregnancy. Manifestations include nasal bridge depression, nasal bones hypoplasia, microcephaly, congenital heart disorders, and brachydactyly." "" + "fetal alcohol syndrome" "Fetal alcohol syndrome (FAS) is a rare malformation syndrome caused by excessive maternal consumption of alcohol during pregnancy. It is characterized by prenatal and/or postnatal growth deficiency (weight and/or height <10th percentile), a unique cluster of minor facial anomalies (short palpebral fissures, flat and smooth philtrum, and thin upper lip) and severe central nervous system (CNS) abnormalities including microcephaly, and cognitive and behavioral impairment (intellectual disability, deficit in general cognition, learning and language, executive function, visual-spatial processing, memory, and attention)." "" + "diethylstilbestrol syndrome" "Diethylstilbestrol (DES) syndrome is a malformation syndrome reported in offspring (children and grandchildren) of women exposed to DES during pregnancy and is characterized by reproductive tract malformations, decreased fertility and increased risk of developing clear cell carcinoma of the vagina and cervix in young women. Reproductive malformations reported in DES syndrome include small, T-shaped uteri and other uterotubal anomalies that increase the risk of miscarriages in women and epididymal cysts, microphallus, cryptorchidism, or testicular hypoplasia in men. DES, a synthetic nonsteroidal estrogen was widely prescribed from 1940-1970 to prevent miscarriage." "" + "fetal methylmercury syndrome" "Foetal methylmercury syndrome is characterised by a group of symptoms that may be observed in a foetus or newborn when the mother was exposed during pregnancy to excessive amounts of methylmercury." "" + "fetal minoxidil syndrome" "Fetal minoxidil syndrome is characterized by a group of symptoms that may be observed in a fetus or newborn when the mother has taken minoxidil during pregnancy. Minoxidil is used in the treatment of malignant renal hypertension and as a topical solution to induce scalp hair growth. Hypertrichosis that gradually diminishes during the first six postnatal months has been reported. Additional reported features include cardiac (congenital great vessel transposition and pulmonary valve stenosis), neurodevelopmental (caudal regression sequence), gastrointestinal, renal, and limb malformations. Conclusive studies are however not available." "" + "phenobarbital embryopathy" "A teratologic disorder associated with intrauterine exposure of phenorbarbital during the first trimester of pregnancy. Infants are usually asymptomatic but an increased risk of intellectual disability, tetralogy of Fallot, unilateral cleft lip, hypoplasia of the mitral valve and some other mild abnormalities such as hypertelorism, epicanthus, hypoplasia and low insertion of the nose, low insertion of the ears, prognathism, finger hypoplasia, brachydactyly and hypospadias have been reported in rare cases." "" + "toluene embryopathy" "Toluene embryopathy is a neurodevelopmental teratologic syndrome due to prenatal exposure to toluene. The disease is characterized by prematurity, low birth weight, dysmorphic features (short palpebral fissures, deep set eyes, low set ears, mid-facial hypoplasia, flat nasal bridge, thin upper lip, micrognathia, spatulate fingertips and small fingernails), central nervous system dysfunctions (intellectual disability, microcephaly, language impairment, hyperactivity, visual dysfunction) and postnatal growth delay. Prenatal exposure to toluene occurs as a result of incidental occupational exposure or solvent abuse during pregnancy. The features of toluene embryopathy often overlap with those seen in fetal alcohol syndrome." "" + "methimazole embryofetopathy" "Methimazole embryopathy is a teratogenic embryofetopathy that results from maternal exposition to methimazole (MMI; or the parent compound carbimazole) in the first trimester of pregnancy. MMI is an antithyroid thionamide drug used for the treatment of Graves' disease. In the infant, MMI may result in choanal atresia, esophageal atresia, omphalocele, omphalomesenteric duct anomalies, congenital heart disease (such as ventricular septal defect), renal system malformations and aplasia cutis. Additional features that may be observed include facial dysmorphism (short upslanting palpebral fissures, a broad nasal bridge with a small nose and a broad forehead) and athelia/hypothelia." "" + "maternal disease-related embryofetopathy" "" + "non-familial hypertrophic cardiomyopathy" "An instance of hypertrophic cardiomyopathy that is acquired during the lifetime of the individual." "" + "Rasmussen subacute encephalitis" "A rare, progressive chronic inflammation of a single cerebral hemisphere that usually affects children. It is characterized by severe seizures, loss of motor skills and speech, hemiparesis, and dementia." "" + "immune epilepsy" "Epilepsies that have a distinct immune-mediated etiology with evidence of central nervous system inflammation, that has been demonstrated to be associated with a substantially increased risk of developing epilepsy." "" + "frontal encephalocele" "" + "obsolete early infantile epileptic encephalopathy" "" "true" + "neonatal/infantile epilepsy syndrome" "An epilepsy sydrome that has an onset during the neonatal or infantile stage of life." "" + "obsolete ocular coloboma" "" "true" + "shoulder and thorax deformity-congenital heart disease syndrome" "" + "infant epilepsy with migrant focal crisis" "An infantile epilepsy syndrome characterized by early-onset progressive encephalopathy with migrant, continuous myoclonus. Three cases have been reported. The focal continuous myoclonus appeared during the first months of life. Prolonged bilateral myoclonic seizures and generalized tonic-clonic seizures occurred later. Subsequently, a progressive encephalopathy with hypotonia and ataxia appeared. Cortical atrophy was revealed by computed tomography (CT) scan and magnetic resonance imaging (MRI). The aetiology is unknown." "" + "esthesioneuroblastoma" "Esthesioneuroblastoma (ENB) is a rare malignant neoplasm of the sinonasal cavity, arising from the basal layers of olfactory neuroepithelial cells in the superior nasal vault, which usually occurs in the 5th to 6th decades of life and is characterized clinically by non-specific symptoms such as progressive ipsilateral nasal block, sinusitis, facial pain, intermittent headaches, hyposmia/dysosmia, rhinorrhea and epistaxis as well as proptosis, diplopia and excessive lacrimation due to orbital extension. With early treatment and in the absence of distant metastases, ENB appears to have a good prognosis (compared to other superior nasal malignancies), despite a high rate of cervical metastases." "" + "Evans syndrome" "Evans syndrome is a rare chronic hematologic disorder characterized by the simultaneous or sequential association of autoimmune hemolytic anemia (AIHA; a disorder in which auto-antibodies are directed against red blood cells causing anemia of varying degrees of severity) with immune thrombocytopenic purpura (ITP; a coagulation disorder in which auto-antibodies are directed against platelets causing hemorrhagic episodes) and occasionally autoimmune neutropenia, in the absence of a known underlying etiology." "" + "facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome" "" + "femoral agenesis/hypoplasia" "Congenital short femur is a rare malformation of variable severity ranging from mild hypoplasia to complete absence of the femur." "" + "non-syndromic limb reduction defect" "" + "obsolete rare disorder with ptosis" "True" "true" + "Nelson syndrome" "A syndrome that develops following bilateral adrenalectomy for Cushing syndrome. The signs and symptoms result from the presence of an adenocorticotropin-secreting pituitary gland adenoma, and include enlargement of the sella turcica and pressure on the adjacent structures, and skin hyperpigmentation." "" + "Ledderhose disease" "Ledderhose disease is a type of plantar fibromatosis characterized by the growth of hard and round or flattened nodules (lumps) on the soles of the feet. It is generally seen in middle-aged and elderly people, and affects men approximately 10 times more often than it affects women. It typically affects both feet and progresses slowly, but not indefinitely. The nodules are typically painless at first, but may cause pain when walking as they grow. Often, people with Ledderhose disease also have other conditions associated with the formation of excess fibrous connective tissue such as Dupuytren contracture, knuckle pads, or Peyronie disease. Repeated trauma, long-term alcohol consumption, chronic liver disease, diabetes, and epilepsy have also been reported in association with this condition. The exact cause of Ledderhose disease is not known, but heredity is thought to play a role in many cases. Treatment, if needed, involves conservative management, steroid injections, radiotherapy, and surgery (plantar facia removal (fasciectomy) and surgical removal of of the fibrous tissue. The condition has a good prognosis, although slow progression is not uncommon. Fasciectomy has been shown to reduce the rate of recurrences." "" + "calcified aponeurotic fibroma" "A rare slow-growing benign neoplasm arising from the soft tissues in children. It is a poorly circumscribed tumor characterized by the presence of chondrocyte-like cells, nodular calcification, nuclear palisading, and in some cases osteoclastic giant cells." "" + "infantile digital fibromatosis" "" + "harlequin syndrome" "Harlequin syndrome (HSD) is an autonomic disorder occurring at any age and characterized by unilateral flushing and sweating, involving the face and sometimes arm and chest, in condition of thermal, exercise or emotional stress without sympathetic ocular manifestations. However, tonic pupils, parasympathetic oculomotor lesion and pre- or postganglionic sudomotor sympathetic deficit can rarely occur." "" + "congenital microgastria" "Congenital microgastria is a rare malformation where the embryological development of the stomach is interrupted, leading to an abnormally small foregut in newborns and characterized by extreme feeding intolerance and malnutrition along with growth retardation and death if untreated. It is usually associated with multiple congenital anomalies." "" + "late-onset isolated ACTH deficiency" "Late-onset isolated ACTH deficiency is a rare, acquired, pituitary hormone deficiency characterized by secondary adrenal insufficiency, with normal secretion of anterior pituitary hormones, except for ACTH. Patients present with weakness, fatigue, weight loss, anorexia, vomiting/nausea, hypoglycemia, and abnormally low serum ACTH and cortisol levels. Association with autoimmune disease such as Hashimoto's thyroiditis has been described." "" + "tetragametic chimerism" "Tetragametic chimerism is a rare, sex chromosome disorder of sex development characterized by the two different haploid sets of maternal and paternal chromosomes and variable phenotype - from normal male or female genitalia, to different degrees of ambiguous genitalia, and often infertility. Also, in the cases of monochorionic dizygotic twins, it can be confined to blood of both twins." "" + "isolated autosomal dominant hypomagnesemia, Glaudemans type" "Isolated autosomal dominant hypomagnesemia, Glaudemans type (IADHG) is a form of familial primary hypomagnesemia (FPH), characterized by low serum magnesium (Mg) values but normal urinary Mg values. The typical clinical features are recurrent muscle cramps, episodes of tetany, tremor, and muscle weakness, especially in distal limbs. The disease is potentially fatal." "" + "congenital myopathy, Paradas type" "Paradas type congenital myopathy is an early-onset form of dysferlinopathy presenting with postnatal hypotonia, weakness in the proximal lower limbs and neck flexor muscles at birth and delayed motor development." "" + "thiamine-responsive encephalopathy" "Thiamine-responsive encephalopathy is a Wernicke-like encephalopathy characterized by seizures responsive to high doses of thiamine." "True" + "cleft lip-retinopathy syndrome" "Cleft lip - retinopathy is an exceedingly rare association characterized by cleft lip and progressive retinopathy." "" + "atypical autism" "Atypical autism is a pervasive developmental disorder that does not fit the diagnosis for the other specific autistic spectrum disorders (autism, Asperger syndrome, Rett syndrome or childhood disintegrative disorder) and is characterized by usually milder developmental and social delay and less stereotypical autistic behavior. '" "" + "isolated cerebellar vermis hypoplasia" "Isolated cerebellar vermis hypoplasia is a rare, non-syndromic cerebellar malformation characterized by an underdeveloped cerebellar vermis. Patients may present a variable phenotype ranging from normal neurodevelopment to motor and/or language delay, variable degrees of cognitive impairment, hypotonia, equilibrium disturbances, static/dynamic ataxia, oculomotor abnormalities, epilepsy and/or clumsiness. Behavioral disorders such as attention deficit hyperactivity disorder and generalized anxiety have also been reported. Brain MRI may reveal diffuse or selective (mostly posterior) vermian cerebellar hypoplasia and EEG may show focal paroxysms." "" + "obsolete syndrome with corpus callosum agenesis /dysgenesis as a major feature" "True" "true" + "cephalocele" "A congenital neural tube closure defect resulting in the protrusion of the brain through a skull opening. When the protrusion includes the meninges, the term encephalomeningocele is used." "" + "combined dystonia" "A dystonia that is combined with another movement disorder (e.g., myoclonus, parkinsonism)." "" + "cleft lip/palate-deafness-sacral lipoma syndrome" "Cleft lip/palate-deafness-sacral lipoma syndrome is characterised by cleft lip/palate, profound sensorineural deafness, and a sacral lipoma. It has been described in two brothers of Chinese origin born to non consanguineous parents. Additional findings included appendages on the heel and thigh, or anterior sacral meningocele and dislocated hip. The mode of inheritance is probably autosomal or X-linked recessive." "" + "immunodeficiency with factor H anomaly" "" + "median cleft lip/mandibule" "Midline cleft of lower lip is a rare anomaly defined as Cleft No. 30 in Tessier's classification." "" + "cleft palate-short stature-vertebral anomalies syndrome" "Cleft palate- short stature- vertebral anomalies is a multiple congenital anomalies syndrome described in a father and son characterized by the association of cleft palate, peculiar facies (asymmetrical appearance, inner epicanthal folds, short nose, anteverted nostrils, low and back-oriented ears, thin upper lip and micrognathism), short stature, short neck, vertebral anomalies and intellectual disability. The transmission is presumed to be autosomal dominant. There have been no further descriptions in the literature since 1993." "" + "sternal cleft" "Sternal cleft (SC) is a rare idiopathic congenital thoracic malformation characterized by a sternal fusion defect, that can be complete or partial (either superior or inferior), that is usually asymptomatic in the neonatal period (apart from a paradoxical midline thoracic bulging) but that can lead to dyspnea, cough, frequent respiratory infections and increased risk of trauma-related injury to the heart, lungs and major vessels if left untreated." "" + "Crandall syndrome" "This syndrome is characterized by progressive sensorineural deafness, alopecia and hypogonadism with LH and GH deficiencies. It has been described in three brothers. It resembles Bjrnstad's syndrome that combines irregular pili torti and deafness. It is probably inherited as and autosomal recessive disorder." "" + "" "true" + "juvenile hyaline fibromatosis" "Juvenile hyaline fibromatosis (JHF) is a rare soft tissue tumor, characterized by papulo-nodular skin lesions (especially around the head and neck), soft tissue masses, gingival hypertrophy, joint contractures, and osteolytic bone lesions in variable degrees. Joint contractures may cripple patients and delay normal motor development if occuring in infancy. Severe gingival hyperplasia can interfere with eating and delay dentition. Histopathology analysis of involved tissues reveals cords of spindle-shaped cells embedded in an amorphous, hyaline material. JHF is a mild form of infantile systemic hyalinosis." "" + "anophthalmia-microphthalmia syndrome" "" + "obsolete fibrosarcoma" "" "true" + "obsolete lymphatic filariasis" "" "true" + "congenital aortopulmonary window" "" + "congenital systemic arteriovenous fistula" "" + "congenital arteriovenous fistula" "An abnormal, epithelial-lined connection between an artery and vein that is present at the time of birth." "" + "sporadic Creutzfeldt-Jakob disease" "Sporadic Creutzfeldt-Jakob disease (sCJD) is a subacute fatal neurodegenerative disease belonging to the group of prion diseases, characterized by a clinical triad of dementia, myoclonus, and EEG anomalies, along with neuropathological evidence of neuronal loss, spongiform changes, and astrocytosis. There are three types of CJD: sporadicCJD (sCJD), inherited CJD, and iatrogenic and variant CJD (vCJD)." "" + "congenital bronchobiliary fistula" "Congenital respiratory-biliary fistula (RBF) is a rare developmental defect characterized by an anomalous connection of trachea or bronchus with left hepatic duct presenting with respiratory distress, recurrent respiratory infections and biliary expectoration or vomitus." "" + "coronary arterial fistulas" "Coronary arterial fistulas are a connection between one or more of the coronary arteries and a cardiac chamber or great vessel." "" + "obsolete tracheo-esophageal fistula-hypospadias syndrome" "" "true" + "FLOTCH syndrome" "FLOTCH syndrome is a rare, genetic, cutaneous disorder characterized by leuchonychia and multiple, recurrent pilar cysts, associated or not with ciliar dystrophy and/or koilonychia. Renal calculi have also been reported." "" + "obsolete Crigler-Najjar syndrome" "" "true" + "osteochondritis of tarsal/metatarsal bone" "Osteochondritis of tarsal/metatarsal bone is a very rare form of osteochondritis dissecans characterized by generally self-limiting bone lesions that may cause pain and swelling often localized at the tarsal navicular bone" "" + "progressive non-infectious anterior vertebral fusion" "Progressive non-infectious anterior vertebral fusion (PAVF) is an early childhood spinal disorder characterized by the gradual onset of thoracic and/or lumbar spine ankylosis often in conjunction with kyphosis with distinctive radiological features." "" + "infantile Krabbe disease" "" + "late-infantile/juvenile Krabbe disease" "" + "adult Krabbe disease" "A Krabbe disease that occurs in an adult." "" + "serous or mucinous cystadenoma of childhood" "Serous or mucinous cystadenoma of childhood is a benign epithelial ovarian tumor characterized by a usually unilateral, cystic, unilocular or multilocular lesion with a thin wall or septa and no intracystic solid portion on imaging. It often presents with abdominal pain or an asymptomatic abdominal mass and can be associated with ovarian torsion or malignant transformation." "" + "borderline epithelial tumor of ovary" "A low grade epithelial tumor arising from the ovary. It is characterized by an atypical proliferation of epithelial cells. There is no evidence of stromal invasion." "" + "symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers" "Symptomatic forms of Duchenne and Becker muscular dystrophies (DMD and BMD) in females carriers are characterized by variable degrees of muscle weakness due to progressive skeletal myopathy, sometimes associated with dilated cardiomyopathy or left ventricle dilation." "" + "immune-mediated necrotizing myopathy" "Necrotizing autoimmune myopathy (NAM) is a rare form of idiopathic inflammatory myopathy characterized clinically by acute or subacute proximal muscle weakness, and histopathologically by myocyte necrosis and regeneration without significant inflammation." "" + "overlap myositis" "Overlap myositis (OM) is a form of idiopathic inflammatory myopathy (IIM) characterized by myositis with at least one clinical and/or autoantibody overlap feature." "" + "rippling muscle disease with myasthenia gravis" "" + "acquired rippling muscle disease" "The acquired form of RMD. Although RMD most often is reported with autosomal dominant inheritance, some sporadic cases are found, and an association with other diseases such as myasthenia gravis has also been reported." "" + "neurolymphomatosis" "A transmissible viral disease of birds caused by avian herpesvirus 2 (herpesvirus 2, gallid) and other mardivirus. There is lymphoid cell infiltration or lymphomatous tumor formation in the peripheral nerves and gonads, but may also involve visceral organs, skin, muscle, and the eye." "" + "subacute inflammatory demyelinating polyneuropathy" "A subacute progressive symmetric sensorial and/or motor disorder characterized by muscular weakness with impaired sensation, absent or diminished tendon reflexes and elevated cerebrospinal fluid (CSF) proteins. SIDP is an intermediate form between Guillain-Barre syndrome (GBS) and chronic inflammatory demyelinating polyneuropathy (CIDP)." "" + "isolated asymptomatic elevation of creatine phosphokinase" "Isolated hyperCKemia is a condition characterized by elevated levels of an enzyme called creatine kinase in the blood. In affected individuals, levels of this enzyme are typically 3 to 10 times higher than normal. While elevated creatine kinase often accompanies various muscle diseases, individuals with isolated hyperCKemia have no muscle weakness or other symptoms. Some people with this condition have abnormalities of muscle cells that can be seen with a microscope, such as unusual variability in the size of muscle fibers, but these changes do not affect the function of the muscle." "" + "caveolinopathy" "A group of muscle diseases with basis in CAV3, which encodes caveolin-3, a muscle-specific membrane protein and the principal component of caveolae membrane in muscle cells in vivo. It is the only gene in which pathogenic variants are known to cause caveolinopathies. Sequence analysis identifies pathogenic variants in more than 99% of affected individuals" "" + "infectious disease with peripheral neuropathy" "An infectious process affecting the peripheral nerves." "True" + "obsolete non-dystrophic myopathy with collagen 6 anomaly" "" "true" + "obsolete mitochondrial myopathy" "" "true" + "obsolete drug and/or toxic myopathy" "" "true" + "infectious, fungal or parasitic myopathy" "" + "viral myositis" "" + "bacterial myositis" "" + "parasitic myositis" "" + "fungal myositis" "" + "obsolete spinal muscular atrophy associated with central nervous system anomaly" "" "true" + "obsolete rare hereditary disease with peripheral neuropathy" "True" "true" + "obsolete rare hereditary systemic disease with peripheral neuropathy" "True" "true" + "obsolete rare hereditary neurologic disease with peripheral neuropathy" "True" "true" + "cerebellar ataxia with peripheral neuropathy" "True" + "acute and subacute inflammatory demyelinating polyneuropathy" "True" + "obsolete malignant lymphoma with peripheral neuropathy" "" "true" + "qualitative or quantitative protein defects in neuromuscular diseases" "" + "sarcoglycanopathy" "Deficiencies or mutations in the genes for the sarcoglycan complex subunits. A variety of phenotypes are associated with these mutations including a subgroup of autosomal recessive limb girdle muscular dystrophies, cardiomyopathies, and respiratory deficiency." "" + "obsolete qualitative or quantitative defects of collagen 6" "" "true" + "qualitative or quantitative defects of merosin" "" + "disorder of protein O-glycosylation" "A disease that has its basis in the disruption of protein O-linked glycosylation." "" + "qualitative or quantitative defects of alpha-dystroglycan" "" + "narcolepsy without cataplexy" "Narcolepsy without cataplexy is characterized by excessive day-time sleepiness associated with uncontrollable sleep urges and sometimes paralysis at sleep, hypnagogic hallucinations and automatic behavior." "" + "Gemignani syndrome" "" + "cerebral gigantism-jaw cysts syndrome" "Cerebral gigantism-jaw cysts syndrome is characterised by cerebral gigantism associated with a jaw cyst basal cell naevoid syndrome." "" + "herpetiform pemphigus" "Herpetiform pemphigus is a rare superficial pemphigus disease characterized by severe intractable pruritus with erythematous or urticarial plaques and vesicles organized in a herpetiform pattern. Mucosae are generally spared. Eosinophilia in peripheral blood and low titers of circulating autoantibodies are observed in many cases. Histologically, minimal or no apparent acantholysis is associated." "" + "superficial pemphigus" "Pemphigus is a group of chronic autoimmune skin diseases characterised by blister formations on the outer layer of the skin and the mucous membranes. Three clinical forms have been characterised, one of which is superficial pemphigus, including the seborrheic, erythematosus, foliaceous and herpetiform variants." "" + "genetic hyperparathyroidism" "Genetic hyperparathyroidism." "" + "tumor of cranial and spinal nerves" "" + "chronic acquired demyelinating polyneuropathy" "Chronic form of acquired peripheral neuropathy." "" + "polyradiculoneuropathy associated with IgG/IgA/IgM monoclonal gammopathy without known antibodies" "" + "acquired sensory ganglionopathy" "An instance of sensory ganglionopathy that is acquired during the lifetime of the individual." "" + "non-paraneoplastic sensory ganglionopathy" "" + "paraneoplastic sensory ganglionopathy" "" + "cutis laxa" "Cutis laxa (CL) is an inherited or acquired connective tissue disorder characterized by wrinkled, redundant and sagging inelastic skin associated with skeletal and developmental anomalies and, in some cases, with severe systemic involvement. Several different forms of inherited CL have been described, differentiated on the basis of the mode of inheritance and differences in the extent of internal organ involvement, associated anomalies and disease severity." "" + "axonal polyneuropathy associated with IgG/IgM/IgA monoclonal gammopathy" "" + "peripheral neuropathy associated with monoclonal gammopathy" "True" + "acquired amyloid peripheral neuropathy" "" + "hematological disease associated with an acquired peripheral neuropathy" "True" + "solid tumor associated with an acquired peripheral neuropathy" "True" + "qualitative or quantitative defects of protein O-mannose beta1,2N-acetylglucosaminyltransferase" "" + "qualitative or quantitative defects of protein glycosyltransferase-like" "" + "qualitative or quantitative defects of myofibrillar proteins" "" + "qualitative or quantitative defects of alphaB-cristallin" "" + "autosomal dominant rhegmatogenous retinal detachment" "Autosomal dominant form of rhegmatogenous retinal detachment." "" + "hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency" "" + "idiopathic copper-associated cirrhosis" "Idiopathic copper-associated cirrhosis is a rare copper-overload liver disease characterized by a rapidly progressive liver cirrhosis from the first few years of life leading to hepatic insufficiency and harboring a specific pathological aspect: pericellular fibrosis, inflammatory infiltration, hepatocyte necrosis, absence of steatosis, poor regeneration and histochemical copper staining." "" + "IRVAN syndrome" "" + "idiopathic uveal effusion syndrome" "" + "idiopathic panuveitis" "Idiopathic panuveitis is a rare inflammatory eye disease, of unknown etiology, characterized by generalized inflammation of the uvea (iris, ciliary body, choroid), retina and vitreous with consequent ciliary spasm and posterior synechiae formation, leading to acute or chronic, unilateral or bilateral visual impairment and ocular discomfort or pain. Patients present an increased risk of development of cataracts, secondary glaucoma, cystoid macular edema and/or retinal detachment. It could potentially result in vision loss." "" + "phacoanaphylactic uveitis" "Intraocular inflammation occurring after extracapsular cataract extraction; probably an immune reaction to the patient's liberated lenticular proteins." "" + "non-infectious anterior uveitis" "" + "solitary rectal ulcer syndrome" "Solitary rectal ulcer syndrome (SRUS) is a rare rectal disease characterized by rectal bleeding, abdominal pain, passage of mucus, sensation of incomplete evacuation, straining at defecation and rectal prolapsed, secondary to ischemic changes in the rectum." "" + "benign familial nocturnal alternating hemiplegia of childhood" "Benign nocturnal alternating hemiplegia of childhood is a rare neurologic disease characterized by recurrent attacks of nocturnal screaming or crying followed or accompanied by unilateral or sometimes bilateral hemiplegia. Disorder is not associated with neurological or developmental impairments but may be associated with mild behavioral abnormalities." "" + "alternating hemiplegia" "" + "obsolete cyclosporosis" "" "true" + "leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome" "Leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome is a rare, syndromic nail anomaly disorder characterized by the association of leukonychia totalis with acanthosis-nigricans-like lesions (occurring in the neck, axillae and abdomen regions) and hair dysplasia, manifesting with dry, brittle hair which presents an irregular pattern of complete or incomplete twists and an irregular surface with londitudinal furrows on electronic microscopy." "" + "pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome" "Pulmonary fibrosis - hepatic hyperplasia - bone marrow hypoplasia, also named Btrimorphic syndromeB (i.e. three (inherited) morbidities, pulmonary, hepatic and cytopenia), is a rare disease reported in 4 cases to date, manifesting with idiopathic pulmonary fibrosis, hepatic nodular regenerative hyperplasia leading to portal hypertension and thrombocytopenia due to bone marrow hypoplasia. The condition was associated with 100% mortality." "" + "adult hepatocellular carcinoma" "Adult hepatocellular carcinoma is the most common primary liver cancer of adulthood. Derived from well-differentiated hepatocytes, it often develops from chronic liver cirrhosis which is most often due to hepatitis B and C virus or alcohol abuse. Symptoms are hepatic mass, abdominal pain and, in advanced stages, jaundice, cachexia and liver failure." "" + "mal de Debarquement" "Mal de debarquement (MdD) is a rare otorhinolaryngological disease characterized by a persistent sensation of motion such as rocking, swaying, tumbling and/or bobbing following a period of exposure to passive movement, usually an ocean cruise or other types of water, train, automobile or air travel and less commonly other movements (like sleeping on a waterbed). Onset may be spontaneous in some patients. Manifestations begin shortly after the stimulus, persist for 6 months to years and may be associated with anxiety, fatigue and impaired cognition. Symptoms are often accentuated when in an enclosed space or when attempting to be motionless (sitting, lying down or standing in a stationary position) and are relieved when in passive motion such as in a moving car, airplane or train." "" + "dysmorphism-pectus carinatum-joint laxity syndrome" "Dysmorphism-pectus carinatum-joint laxity syndrome is characterised by joint laxity, pectus carinatum and facial dysmorphism (mild frontal bossing, a beaked nose with a low nasal bridge, malar hypoplasia, chubby cheeks, a striking philtrum and arched upper lips). It has been described in two siblings. The mode of transmission is unknown." "" + "congenital temporomandibular joint ankylosis" "Congenital temporomandibular joint ankylosis is a rare maxillofacial disorder characterized by significant reduction in mouth opening (i.e. from a few millimeters to a few centimeters) in the absence of acquired factors (e.g. trauma, infection) contributing to the ankylosis. It is associated with variable degrees of facial dysmorphism (i.e. lateral deviation of the mandible and chin, lower facial asymmetry, retrognathia, micrognathia, dental malocclusion) and patients typically present with feeding and breathing difficulties. Developmental delay, hypotonia, seizures, and additional dysmorphic features (e.g. pectus excavatum, low-set ears, hypoplastic alae nasi) have also been reported." "" + "temporomandibular joint anomaly" "" + "spindle cell hemangioma" "Spindle cell hemangioma (SCH), also known as spindle cell hemangioendothelioma, is a rare benign vascular tumor either solitary or multiple, characterized by cavernous blood vessels separated by spindle cells reminiscent of those in KaposiBs sarcoma and located in the dermis and subcutis." "" + "specific learning disability" "Diagnosed when there are specific deficits in an individualbs ability to perceive or process information efficiently and accurately. This disorder first manifests during the years of formal schooling and is characterized by persistent and impairing difficulties with learning foundational academic skills in reading, writing, and/or math. The individualbs performance of the affected academic skills is well below average for age, or acceptable performance levels are achieved only with extraordinary effort. Specific learning disorder may occur in individuals identified as intellectually gifted and manifest only when the learning demands or assessment procedures (e.g., timed tests) pose barriers that cannot be overcome by their innate intelligence and compensatory strategies. For all individuals, specific learning disorder can produce lifelong impairments in activities dependent on the skills, including occupational performance. (from dsm-V)" "" + "obsolete rare vascular tumor" "Any of the forms of vascular neoplasm that have a rare incidence." "True" "true" + "obsolete rare venous malformation" "True" "true" + "obsolete rare lymphatic system malformation" "True" "true" + "obsolete rare arteriovenous malformation" "Rare arteriovenous malformation." "True" "true" + "complex vascular malformation with associated anomalies" "True" + "kaposiform hemangioendothelioma" "Kaposiform hemangioendothelioma is a very rare, aggressive, vascular tumor manifesting in the neonatal period or in infancy as cutaneous vascular tumors to large infiltrative lesions." "" + "kaposiform lymphangiomatosis" "A generalized lymphatic anomaly characterized by kaposiform spindled lymphatic endothelial cells." "" + "diffuse neonatal hemangiomatosis" "Diffuse neonatal hemangiomatosis is a rare vascular tumor from unknown origin characterized by multiple, progressive, rapidly growing cutaneous hemangiomas (e.g. in the scalp, face, trunk and extremities) associated with widespread visceral hemangiomas in the liver, lungs, gastrointestinal tract, brain, and meninges." "" + "inborn disorder of lysosomal amino acid transport" "" + "hemoglobin C disease" "Hemoglobin C disease (HbC) is a hemoglobinopathy characterized by production of abnormal variant hemoglobin known as hemoglobin C, with no or mild clinical manifestations (hemolytic anemia)." "" + "hemoglobin E disease" "Hemoglobin E disease (HbE) is a hemoglobinopathy characterized by production of abnormal variant hemoglobin known as hemoglobin E, with a generally benign, asymptomatic presentation." "" + "obsolete ovarian cancer" "" "true" + "obsolete adenocarcinoma of ovary" "" "true" + "" "true" + "malignant non-epithelial tumor of ovary" "" + "hereditary site-specific ovarian cancer syndrome" "Hereditary site-specific ovarian cancer syndrome refers to ovarian cancer caused by germline mutations in various genes, usually associated with additional cancer risks. The most common are breast and ovarian cancer syndrome (HBOC) due to mutations in BRCA1 and BRCA2 genes and hereditary nonpolyposis colorectal cancer (HNPCC) due to mutations in DNA mismatch-repair genes. Mutations in STK11 gene, causing Peutz-Jeghers syndrome, are also associated with a risk of ovarian cancer (typically sex cord stromal tumors). Mutations in other genes, including RAD51C, RAD51D, PALB2, confer an elevated ovarian cancer risk in a minority of patients." "" + "obsolete rare adenocarcinoma of the breast" "Any of the forms of breast adenocarcinoma that have a rare incidence." "True" "true" + "salivary gland type cancer of the breast" "Salivary gland type cancer of the breast describes a group of uncommon neoplasms, usually seen in the salivary glands but occurring in the breast, with a variable clinicopathologic spectrum and divided into those with myoepithelial differentiation and those without. This group includes mammary adenoid cystic carcinoma, adenoid cystic carcinoma, mucoepidermoid carcinoma, acinic cell carcinoma, polymorphous low-grade adenocarcinoma and oncocytic carcinoma." "" + "obsolete rare uterine cancer" "Rare uterine cancer." "True" "true" + "obsolete rare variants of adenocarcinoma of the corpus uteri" "" "true" + "obsolete adenosarcoma of the corpus uteri" "" "true" + "uterine corpus carcinofibroma" "An uncommon malignant neoplasm arising from the uterine corpus. It is characterized by the presence of a malignant epithelial component and a benign mesenchymal (usually fibrous) component." "" + "carcinosarcoma of the corpus uteri" "An aggressive malignant mixed epithelial and mesenchymal tumor that arises from the uterine corpus. It usually affects elderly postmenopausal women and presents with vaginal bleeding. It is characterized by the presence of a malignant epithelial component that is usually glandular and a sarcomatous component." "" + "uterine corpus rhabdomyosarcoma" "A rare malignant heterologous neoplasm with skeletal muscle differentiation arising from the uterine corpus. It usually manifests with vaginal bleeding. The prognosis is poor." "" + "obsolete sarcoma of the corpus uteri" "" "true" + "primitive neuroectodermal tumor of the corpus uteri" "A primitive neuroectodermal tumor that involves the body of uterus." "" + "obsolete endometrial stromal sarcoma" "" "true" + "squamous cell carcinoma of the corpus uteri" "A squamous cell carcinoma that involves the body of uterus." "" + "undifferentiated carcinoma of the corpus uteri" "Undifferentiated carcinoma of the corpus uteri is a rare cancer of corpus uteri presenting as a large, polypoid, intraluminal mass with necrosis, composed of small to intermediate-size, relatively uniform, dyshesive cells displaying no differentiation. It usually presents with dysfunctional bleeding or vaginal discharge and, less often, abdominal pain. Association with Lynch syndrome was reported." "" + "papillary carcinoma of the corpus uteri" "A papillary carcinoma that involves the body of uterus." "" + "high-grade neuroendocrine carcinoma of the corpus uteri" "High-grade neuroendocrine carcinoma of the corpus uteri is an extremely rare, aggressive, primary uterine neoplasm, originating from neuroendocrine cells scattered within the endometrium, characterized, macroscopically, by a bulky, frequently polypoid, mass with abundant necrosis located in the uterus and, histologically, by rosette-like and cord-like structures consisting of small, rounded cells with oval nuclei and scarce cytoplasm. Patients often present with dysfunctional uterine bleeding, pelvic or abdominal mass and, especially in later stages of the disease, abdominal pain. Symptomatic metastatic spread or symptoms related to a paraneoplastic syndrome, such as retinopathy, or Cushing syndrome due to ectopic ACTH production, may be associated." "" + "uterine corpus neuroendocrine neoplasm" "An epithelial neoplasm with neuroendocrine differentiation that arises from the uterine corpus. It includes carcinoid tumor, small cell carcinoma pulmonary type, and large cell neuroendocrine carcinoma." "" + "low-grade neuroendocrine tumor of the corpus uteri" "Low-grade neuroendocrine tumor of the corpus uteri is an extremely rare uterine cancer typically characterized by a well demarcated, solid, frequently pedunculated tumor originating from neuroendocrine cells scattered within the endometrium, often associated with ectopic hormone production. Patients usually present with vaginal bleeding or discharge and a pelvic mass with a polypoid tumor sometimes protruding through the cervical canal. Symptoms related to ectopic hormone production (flushing, sweating, diarrhea, bronchospasm) may also develop." "" + "adenoid cystic carcinoma of the corpus uteri" "A adenoid cystic carcinoma that involves the body of uterus." "" + "transitional cell carcinoma of the corpus uteri" "A transitional cell carcinoma that involves the body of uterus." "" + "obsolete rare cancer of cervix uteri" "Rare cervical cancer." "True" "true" + "high-grade neuroendocrine carcinoma of the cervix uteri" "High-grade neuroendocrine carcinoma of the cervix uteri is a rare, aggressive, primary cervical neoplasm, originating from neuroendocrine cells present in the lining epithelium of the cervix, characterized, macroscopically, by usually large lesions, sometimes with a barrel-shaped appearance. Patients often present with abnormal vaginal bleeding or discharge, pelvic/abdominal pain, post-coital spotting and/or dysuria, while symptoms related to carcinoid syndrome are not frequent." "" + "obsolete carcinosarcoma of the cervix uteri" "Carcinosarcoma of the cervix uteri is a rare, malignant, mixed epithelial and mesenchymal tumor, located in the cervix uteri, composed of an admixture of carcinomatous and sarcomatous elements. It usually presents with abnormal vaginal bleeding and a round, well-defined, grey to yellowish-white, pedunculated polypoid mass protruding through the cervical canal. Association with HPV infection (especially serotype 16) has been frequently reported." "" "true" + "obsolete adenosarcoma of the cervix uteri" "Adenosarcoma of the cervix uteri is a rare subtype of malignant mixed epithelial and mesenchymal tumor composed of benign or mildly atypical glandular elements and a surrounding low-grade malignant stroma, often containing heterologous elements, such as areas of sex-cord-like or smooth muscle differentiation. It usually presents with vaginal bleeding or discharge, lower abdominal pain and/or a cervical mass or polyp. The tumor may arise from pre-existing endometriosis and patients may have a history of recurrent cervical polyps." "" "true" + "46,XX ovotesticular disorder of sex development" "46,XX ovotesticular disorder of sex development (46,XX ovotesticular DSD) is characterized by histologically confirmed testicular and ovarian tissue in an individual with a 46,XX karyotype." "" + "rhabdomyosarcoma of the cervix uteri" "A rare malignant neoplasm with skeletal muscle differentiation arising from the cervix." "" + "leiomyosarcoma of the cervix uteri" "Leiomyosarcoma of the cervix uteri is a rare, malignant mesenchymal tumor of smooth muscle origin, macroscopically appearing as a large, poorly circumscribed mass, often protruding from the cervical canal or expanding it circumferentially. The most common presenting symptoms are vaginal discharge or bleeding, pain in the lower abdomen and a bulky cervical mass. There is a reported tendency to metastatsize hematogenously, especially to the lungs, peritoneum, bones and the liver." "" + "primitive neuroectodermal tumor of the cervix uteri" "Primitive neuroectodermal tumor of the cervix uteri is a rare cancer of cervix uteri derived from neural crest cells, histologically composed of small, round neoplatic cells with variable degree of neural, glial and ependymal differentiation. Macroscopically, the tumor is often a large, soft, poorly circumscribed mass with infiltrative borders and necrotic areas. It presents with dysfuntional vaginal bleeding or discharge, lower abdominal pain and uterine enlargement." "" + "adenoid basal carcinoma of the cervix uteri" "A skin adenoid basal cell carcinoma that involves the uterine cervix." "" + "obsolete glassy cell carcinoma of the cervix uteri" "" "true" + "malignant germ cell tumor of cervix uteri" "A malignant germ cell tumor that involves the uterine cervix." "" + "Hernández-Aguirre Negrete syndrome" "A syndrome is characterized by major seizures, dysmorphic features (round face, bulbous nose, wide mouth, prominent philtrum), pes planus, psychomotor retardation and obesity. It has been described in five children (three boys and two girls, one of whom died in infancy) from two unrelated Mexican families. This condition is likely to be transmitted as an autosomal recessive trait." "" + "craniosynostosis, Herrmann-Opitz type" "Craniosynostosis, Herrmann-Opitz type is a rare bone development disorder characterized by intellectual disability, short stature, turribrachycephaly, facial dysmorphism (i.e. severe hypertelorism, hypoplasia of supraorbital ridges, abnormal ears, and micrognathia), bony defects of the occiput, and digital anomalies (incl. syndactyly, oligodactyly, and/or brachydactyly). Urethral atresia has also been reported. There have been no further descriptions in the literature since 1987." "" + "Hirschsprung disease-type D brachydactyly syndrome" "Hirschsprung disease-type D brachydactyly syndrome is characterized by Hirschsprung disease and absence or hypoplasia of the nails and distal phalanges of the thumbs and great toes (type D brachydactyly). It has been described in four males from one family (two brothers and two maternal uncles). Transmission appears to be X-linked recessive but autosomal dominant inheritance with incomplete penetrance in females can not be ruled out." "" + "nonsyndromic genetic hearing loss" "A disease characterized by hearing loss that is not part of a larger syndrome." "" + "holoprosencephaly-caudal dysgenesis syndrome" "A central nervous system malformation syndrome characterized by holoprosencephaly with microcephaly, abnormal eye morphology (hypotelorism, cyclopia, exophthalmos), nasal anomalies (single nostril or absent nose), and cleft lip/palate, combined with signs of caudal regression (sacral agenesis, sirenomelia with absent external genitalia)." "" + "obsolete transposition of the great arteries" "" "true" + "congenitally corrected transposition of the great arteries" "Congenitally corrected transposition (CCT) of the great vessels is a rare cardiac malformation characterized by the combination of discordant atrioventricular and ventriculo-arterial connections, usually accompanied by other cardiovascular malformations." "" + "isolated congenitally uncorrected transposition of the great arteries" "" + "congenitally uncorrected transposition of the great arteries with cardiac malformation" "" + "classic pantothenate kinase-associated neurodegeneration" "" + "atypical pantothenate kinase-associated neurodegeneration" "" + "Niemann-Pick disease type C, severe perinatal form" "" + "Niemann-Pick disease type C, severe early infantile neurologic onset" "" + "Niemann-Pick disease type C, late infantile neurologic onset" "" + "Niemann-Pick disease type C, juvenile neurologic onset" "" + "Niemann-Pick disease type C, adult neurologic onset" "" + "Bockenheimer syndrome" "" + "5-fluorouracil poisoning" "5-fluorouracil (5-FU) poisoning is a rare intoxication caused by the prolonged, low-dose administration of 5-FU, which is the mainstay of both adjuvant and advanced-disease chemotherapy regimens in colon cancer. 5-FU poisoning is characterized by gastrointestinal (nausea, emesis, diarrhea, anorexia, stomatitis) and hematologic (myelosuppression) toxicities as well as mucositis, alopecia and, occasionally, palmar-plantar dysesthesia (more commonly known as hand-foot syndrome). Women have been reported to experience more 5-FU-related toxicity than men." "" + "poisoning" "A condition or physical state produced by the ingestion, injection, inhalation of or exposure to a deleterious agent." "" + "obsolete renal cell carcinoma" "" "true" + "obsolete rare carcinoma of pancreas" "Rare pancreatic carcinoma." "True" "true" + "mucopolysaccharidosis type 2, severe form" "Mucopolysaccharidosis type 2 (MPS2), severe form (MPS2S), is associated with a massive accumulation of glycosaminoglycans and a wide variety of symptoms including a rapidly progressive cognitive decline; it is most often fatal in the second or third decade." "" + "mucopolysaccharidosis type 2, attenuated form" "Mucopolysaccharidosis type 2, attenuated form (MPS2att), the less severe form of MPS2, leads to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive facies, short stature, cardiorespiratory and skeletal findings. It is differentiated from mucopolysaccharidosis type 2, severe form by the absence of cognitive decline." "" + "limbic encephalitis with NMDA receptor antibodies" "Limbic encephalitis with anti-N-methyl-D-aspartate (NMDA) receptor antibodies is a recently described type of encephalitis affecting young women with teratoma of ovary and associated with antibodies that react with neuronal cell surface auto-antigens." "" + "progressive multifocal leukoencephalopathy" "Progressive multifocal leukoencephalopathy (PML) is a neurological disorder that damages the myelin that covers and protects nerves in the white matter of the brain. It is caused by the JC virus (JCV). By age 10, most people have been infected with this virus, but itrarelycauses symptoms unless the immune system becomes severely weakened.The disease occurs, rarely, in organ transplant patients; people undergoing chronic corticosteroid or immunosuppressive therapy; and individuals with cancer, such as Hodgkins disease, lymphoma, and sarcoidosis. PML is most common among individuals with acquired immune deficiency syndrome (AIDS)." "" + "congenital insensitivity to pain with hyperhidrosis" "" + "obsolete rare hereditary thrombophilia" "True" "true" + "pulmonary interstitial glycogenosis" "Pulmonary interstitial glycogenosis (PIG) is a rare non-lethal pediatric form of interstitial lung disease (ILD)." "" + "interstitial lung disease specific to infancy" "" + "neuroendocrine cell hyperplasia of infancy" "Neuroendocrine cell hyperplasia of infancy (NCHI) is a non-lethal pediatric form of interstitial lung disease (ILD) characterized by tachypnea without respiratory failure." "" + "chronic respiratory distress with surfactant metabolism deficiency" "" + "primary interstitial lung disease in childhood and adulthood due to alveolar structure disorder" "True" + "obsolete hypertrophic cardiomyopathy" "" "true" + "glycogen storage disease with hypertrophic cardiomyopathy" "True" + "obsolete familial syndrome associated with hypertrophic cardiomyopathy" "" "true" + "infantile systemic hyalinosis" "Infantile systemic hyalinosis (ISH) is a very rare disorder belonging to the heterogeneous group of genetic fibromatoses and is characterized by progressive joint contractures, skin abnormalities, severe chronic pain and widespread deposition of hyaline material in many tissues such as the skin, skeletal muscle, cardiac muscle, gastrointestinal tract, lymph nodes, spleen, thyroid, and adrenal glands." "" + "hypertrophic cardiomyopathy due to intensive athletic training" "" + "fatty acid oxidation and ketogenesis disorder with dilated cardiomyopathy" "True" + "non-familial dilated cardiomyopathy" "" + "obsolete restrictive cardiomyopathy" "" "true" + "obsolete unclassified cardiomyopathy" "" "true" + "hydranencephaly" "A rare congenital brain disorder in which the cerebral hemispheres are absent and replaced by sacs that contain cerebrospinal fluid. Signs and symptoms include irritability, increased muscle tone, seizures, and hydrocephalus. The prognosis is poor." "" + "hydrocephalus-obesity-hypogonadism syndrome" "This syndrome is characterized by the association of congenital hydrocephalus, centripetal obesity, hypogonadism, intellectual deficit and short stature." "" + "obsolete rare cardiac rhythm disease" "A rare form of cardiac rhythm disease." "True" "true" + "hydrocephalus-blue sclerae-nephropathy syndrome" "Hydrocephalus-blue sclera-nephropathy syndrome is a rare, genetic, renal or urinary tract malformation syndrome characterized by nephrotic syndrome with focal segmental sclerosis associated with hydrocephalus, thin skin and blue sclerae. There have been no further descriptions in the literature since 1978." "" + "anti-HLA hyperimmunization" "Anti-HLA hyperimmunization is an increase in anti-HLA antigens mostly seen in chronic renal failure (CRF) patients that have undergone hemodialysis and polytransfusion." "" + "palmoplantar keratoderma-spastic paralysis syndrome" "" + "diffuse cutaneous systemic sclerosis" "Diffuse cutaneous systemic sclerosis (dcSSc) is a subtype of Systemic Sclerosis (SSc) characterized by truncal and acral skin fibrosis with an early and significant incidence of diffuse involvement (interstitial lung disease, oliguric renal failure, diffuse gastrointestinal disease, and myocardial involvement)." "" + "dysplastic cortical hyperostosis" "" + "limited cutaneous systemic sclerosis" "Limited cutaneous systemic sclerosis (lcSSc) is a subtype of systemic sclerosis (SSc) characterized by the association of Raynaud's phenomenon with skin fibrosis limited to the hands, face, feet and forearms." "" + "limited systemic sclerosis" "Limited systemic sclerosis (lSSc) (or SSc sine scleroderma) is a subset of systemic sclerosis (SSc) characterized by organ involvement in the absence of fibrosis of the skin." "" + "marcothrombocytopenia with mitral valve insufficiency" "Macrothrombocytopenia with mitral valve insufficiency is a rare hemorrhagic disorder due to a platelet anomaly characterized by dysfunctional platelets of abnormally large size, moderate thrombocytopenia, prolonged bleeding time and mild bleeding diathesis (ecchymoses and epistaxis), associated with mitral valve insufficiency." "" + "classic or attenuated familial adenomatous polyposis" "An inherited diseases haracterized by the development of adenomas in the rectum and colon; classified into classic FAP and attenuated FAP." "" + "obsolete rare hereditary hemochromatosis" "Rare hereditary hemochromatosis comprises the rare forms of hereditary hemochromatosis (HH), a group of diseases characterized by excessive tissue iron deposition. These rare forms are hemochromatosis type 2 (juvenile), type 3 (TFR2-related), and type 4 (ferroportin disease). Hemochromatosis type 1 (also called classic hemochromatosis) is not a rare disease." "True" "true" + "tumor of parathyroid gland" "A neoplasm (disease) that involves the parathyroid gland." "" + "maternal phenylketonuria" "Maternal phenylketonuria (PKU) is a rare disorder of phenylalanine metabolism, an inborn error of amino acid metabolism, characterized by the development of microcephaly, growth retardation, congenital heart disease, facial dysmorphism and intellectual disability in nonphenylketonuric offspring of mothers with excess phenylalanine (Phe) concentrations." "" + "polymyositis" "Polymyositis (PM) is a rare idiopathic inflammatory myopathy characterized by symmetric proximal muscle weakness and elevated muscle enzymes." "" + "Rothmund-Thomson syndrome type 1" "Rothmund-Thomson syndrome type 1 is a subform of Rothmund-Thomson syndrome (RTS) presenting with a characteristic facial rash (poikiloderma) and frequently associated with short stature, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, and rapidly progressive bilateral juvenile cataracts. In contrast to RTS2, patients with RTS1 do not appear to have an increased risk of developing cancer." "" + "Rothmund-Thomson syndrome type 2" "Rothmund-Thomson syndrome type 2 is a subform of Rothmund-Thomson syndrome (RTS) presenting with a characteristic facial rash (poikiloderma) and frequently associated with short stature, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, congenital bone defects and an increased risk of osteosarcoma in childhood and squamous cell carcinoma later in life." "" + "disease with potential neoplastic degeneration associated with ocular features" "True" + "Marchiafava-Bignami disease" "Marchiafava Bignami disease is defined by characteristic demyelination of the corpus callosum (erosion of the protective covering of nerve fibers joining the 2 hemispheres of the brain). The disease seems to most often affect severe and chronic alcoholics in their middle or late adult life. Early symptoms may include depression, paranoia, psychosis, or dementia. Seizures are common, and hemiparesis, aphasia, abnormal movements, and ataxia may sometimesprogress to coma and/or death. The cause of Marchiafava Bignami disease, including the potential role of nutritional deficiency, remains unknown. Improvement and recovery of some individuals has been reported. Treatment focuses on nutritional support and rehabilitation from alcoholism." "" + "combined hyperactive dysfunction syndrome of the cranial nerves" "" + "glossopharyngeal neuralgia" "Glossopharyngeal neuralgia is a condition characterized by repeated episodes of severe pain in the tongue, throat, ear, and tonsils (areas connected to the ninth cranial nerve, or glossopharyngeal nerve). It typically occurs in individuals over age 40. Episodes of pain may last from a few seconds to a few minutes, and usually occur on one side. The pain may be triggered by swallowing, speaking, laughing, chewing or coughing. The condition is thought to be due to irritation of the nerve, although the source of irritation is unclear. The goal of treatment is to control pain, but over-the-counter pain medications are not very effective; the most effective drugs are anti-seizure medications. Some antidepressants help certain people. Surgery to cut or take pressure off of the glossopharyngeal nerve may be needed in severe cases." "" + "isolated facial myokymia" "" + "confetti-like macular atrophy" "" + "acquired dermis elastic tissue disorder" "An instance of dermis elastic tissue disorder that is acquired during the lifetime of the individual." "" + "maternal hyperthermia induced birth defects" "Maternal hyperthermia induced birth defects is a rare maternal disease-related embryofetopathy characterized by variable developmental anomalies of the fetus due to teratogenic effect of elevated maternal body temperature (resulting from febrile illness or hot environment exposure). Reported developmental anomalies include neural tube defects (spina bifida, ecephalocele, anencephaly), cardiac defects (transposition of great vessels), urogenital defects (hypospadias), abdominal wall defects, cleft lip/palate, eye defects (cataract, coloboma) or various minor anomalies (e.g., bifid uvula, preauricular pit or tag). Consensus regarding cause-effect relationship has not been reached." "" + "erosive pustular dermatosis of the scalp" "Erosive pustular dermatosis of the scalp is a rare chronic inflammation of the scalp usually occurring in elderly women (>70 years old) and characterized by the development of painful pustules, shallow erosions, and crusting on atrophic skin that eventually result in cicatricial alopecia." "" + "acquired hypertrichosis lanuginosa" "Acquired hypertrichosis lanuginosa is a rare cutaneous paraneoplastic disease characterized by the presence of excessive lanugo-type hair on the glabrous skin of face, neck, trunk and limbs that can be associated with additional clinical features such as burning glossitis, papillary hypertrophy of the tongue, diarrhea, dysgeusia, and/or weight loss. It is associated with lymphoma or cancer of the gastrointestinal system, urinary tract, lung, breast, uterus or ovary." "" + "obsolete eyebrow/eyelashes hypertrichosis" "" "true" + "hypogonadotropic hypogonadism-frontoparietal alopecia syndrome" "This syndrome is characterized by the association of hypogonadotropic hypogonadism and frontoparietal alopecia." "" + "hypogonadism-mitral valve prolapse-intellectual disability syndrome" "This syndrome is characterized by the association of hypogonadism due to primary gonadal failure, mitral valve prolapse, mild intellectual deficit and short stature." "" + "hypogonadotropic hypogonadism-retinitis pigmentosa syndrome" "This syndrome is characterized by the association of hypogonadotropic hypogonadism (with primary amenorrhea and lack of secondary sexual development) and retinitis pigmentosa. It has been described in two sisters born to nonconsanguineous parents." "" + "obsolete bone sarcoma" "" "true" + "obsolete lymphoma" "" "true" + "cerebellar hypoplasia-tapetoretinal degeneration syndrome" "Cerebellar hypoplasia-tapetoretinal degeneration syndrome is a rare syndrome with a cerebellar malformation as a major feature characterized by cerebellar hypoplasia, bilateral retinal pigmentary changes, intellectual disability that can range from mild to moderate and pronounced language development delay. It presents with early developmental delay, central and peripheral non-progressive visual impairment or asymptomatic retinal changes, hypotonia, non-progressive ataxia and nystagmus." "" + "hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome" "This syndrome is characterized by the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism." "" + "sporadic infantile bilateral striatal necrosis" "Sporadic infantile bilateral necrosis is the sporadic form of infantile bilateral striatal necrosis (IBSN), a syndrome of bilateral symmetric spongy degeneration of the caudate nucleaus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis." "" + "foveal hypoplasia-presenile cataract syndrome" "" + "lysosomal disease with epilepsy" "True" + "peroxisomal disease with epilepsy" "True" + "metal transport or utilization disorder with epilepsy" "True" + "energy metabolism disorder with epilepsy" "True" + "obsolete metabolic neurotransmission anomaly with epilepsy" "" "true" + "obsolete other metabolic disease with epilepsy" "True" "true" + "oligomeganephronia" "Oligomeganephronia is a developmental anomaly of the kidneys, and the most severe form of renal hypoplasia, characterized by a reduction of 80% in nephron number and a marked hypertrophy of the glomeruli and tubules." "" + "primary congenital hypothyroidism" "Primary congenital hypothyroidism is a type of permanent congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth." "" + "hypothyroidism due to deficient transcription factors involved in pituitary development or function" "Hypothyroidism due to mutations in transcription factors involved in pituitary development or function is a type of central congenital hypothyroidism, a permanent thyroid deficiency that is present from birth, characterized by low levels of thyroid hormones caused by disorders in the development or function of the pituitary." "" + "congenital hypothyroidism due to maternal intake of antithyroid drugs" "" + "hypotrichosis-intellectual disability, Lopes type" "Hypotrichosis-intellectual disability, Lopes type is characterised by hypotrichosis, syndactyly, intellectual deficit and early eruption of teeth. It has been described in two patients. The mode of transmission appears to be autosomal recessive." "" + "obsolete immunodeficiency-centromeric instability-facial anomalies syndrome" "" "true" + "diphallia" "" + "congenital ichthyosis-microcephalus-tetraplegia syndrome" "" + "multiple system atrophy, cerebellar type" "Multiple system atrophy, cerebellar type (MSA-c) is a form of multiple system atrophy (MSA) with predominant cerebellar features (gait and limb ataxia, oculomotor dysfunction, and dysarthria)." "" + "toxic oil syndrome" "Toxic oil syndrome is a rare intoxication, due to consumption of a rapeseed oil denatured with aniline 2%, characterized by generalized vascular lesions affecting all organs and vessels (including veins and arteries) and presenting with severe incapacitating myalgias, marked peripheral eosinophilia and pulmonary infiltrates." "" + "autoimmune polyendocrinopathy type 3" "Autoimmune polyendocrinopathy type 3 is a rare, endocrine disease characterized by autoimmune thyroid disease associated with at least one other autoimmune disease, such as type I diabetes mellitus, chronic atrophic gastritis, pernicious anemia, vitiligo, alopecia, or myasthenia gravis, but excluding Addison disease." "" + "autoimmune polyendocrinopathy type 4" "" + "progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome" "Progressive sensorineural hearing loss - hypertrophic cardiomyopathy is an extremely rare disorder described in one family to date that is characterized by progressive, late onset, autosomal dominant sensorineural hearing loss, QT interval prolongation, and mild cardiac hypertrophy." "" + "Hughes-Stovin syndrome" "Hughes-Stovin syndrome (HSS) is a life-threatening disorder, believed to be a cardiovascular clinical variant manifestation of BehC'et's disease (BD). It is characterized by the association of multiple pulmonary artery aneurysms (PAAs) and peripheral venous thrombosis." "" + "fusariosis" "Fusariosis describes a superficial, locally invasive, disseminated infection with the pathogenic fungus species, Fusarium, often found in soil and water, which is mainly transmitted to humans through traumatic inoculation and that manifests with keratitis, onychomycosis and less frequently peritonitis and cellulitis. In the immunocompromised, disseminated fusariosis is more common and it manifests with refractory fever, skin lesions (ecthyma-like, target, and multiple subcutaneous nodules), severe myalgias and sino-pulmonary infections." "" + "obsolete coccidioidomycosis" "" "true" + "Marburg acute multiple sclerosis" "Marburg acute multiple sclerosis is a rare variant of multiple sclerosis characterized by a rapidly progressive, aggressive form of multiple sclerosis with numerous large multifocal demyelinating lesions in deep white matter on cerebral MRI that usually leads to severe disability or death within weeks to months without remission. A relapsing form of multiple sclerosis is observed in surviving patients." "" + "Balo concentric sclerosis" "Tumefactive multiple sclerosis is characterized by a tumor-like lesion larger than two centimeters and signs and symptoms similar to those of a brain tumor. It is a rare form of multiple sclerosis (MS). Symptoms of tumefactive MS often differ from other MS cases and may include, headaches, changes in thinking, confusion, speech problems, seizures, and weakness. The cause of tumefactive MS is not known. It often develops into the relapsing-remitting form of MS. In other cases there is only one occurrence of the condition. In still others the disease process remains less clear. While there is no cure for tumefactive MS, treatments such as corticosteroids are available to decrease disease activity." "" + "autosomal dominant Charcot-Marie-Tooth disease type 2M" "Autosomal dominant Charcot-Marie-Tooth disease type 2M (CMT2M) is a form of axonal Charcot-Marie-Tooth disease, a peripheral motor and sensory neuropathy. CMT2M is characterized by congenital pstosis and early cataract associated to a mildly progressive peripheral neuropathy of variable onset from birth to the 6th decade, pes cavus, reduced to absent ankles tendon reflexes and sometimes neutropenia." "" + "dysmorphism-short stature-deafness-disorder of sex development syndrome" "Dysmorphism-short stature-deafness-disorder of sex development syndrome is characterized by dysmorphism (including facial asymmetry, arched eyebrows, hypertelorism, broad and flat nasal bridge, microtia, small nose with anteverted nostrils, micrognathia), deafness, cleft palate, male pseudohermaphroditism, and growth and psychomotor retardation. It has been described in two siblings. It is transmitted as an autosomal recessive trait." "" + "acquired dermis elastic tissue disorder with decreased elastic tissue" "True" + "late-onset focal dermal elastosis" "Late-onset focal dermal elastosis is a rare, acquired, dermis elastic tissue disorder characterized by a pseudoxanthoma elasticum-like papular eruption consisting of multiple, slowly progressive, asymptomatic, 2-5 mm, white to yellowish, non-follicular papules (that tend to form cobblestone plaques) predominantly distributed over the neck, axillae and flexural areas, with no systemic involvement. Skin biopsy reveals a focal increase of normal-appearing elastic tissue in the reticular dermis with no calcium deposits." "" + "linear focal dermal elastosis" "Linear focal elastosis is a rare, acquired, dermis elastic tissue disorder characterized by asymptomatic, palpable, hypertrophic or atrophic, yellowish or red, indurated, horizontal, striae-like linear plaques distributed symmetrically across the mid and lower back. No systemic involvement has been described. Skin biopsy reveals a focal increase in abnormal elastic tissue with abundant, wavy, fragmented and aggregated, basophilic elastic fibers in the reticular dermis." "" + "elastoderma" "Elastoderma is a rare condition that affects the skin. People affected by elastoderma generally have increased laxity of skin covering a specific area of the body. Decreased recoil of the skin has also been reported. Although any part of the body can be affected, the skin of the neck and extremities (arms and legs, especially at the elbows and/or knees) are most commonly involved. The exact underlying cause is currently unknown; however, it generally occurs sporadically in people with no family history of the condition. There is no standard therapy available for elastoderma. Some cases have been treated with surgical excision (removal of affected skin), but hyperlaxity of skin often returns following the surgery." "" + "elastofibroma dorsi" "A benign, slow-growing tumor arising from the soft tissues usually in the mid-thoracic region of the elderly. It is characterized by the presence of paucicellular collagenous tissue, adipocytes and a predominance of large coarse elastic fibers arranged in globules." "" + "acquired pseudoxanthoma elasticum" "A nonheritable form of pseudoxanthoma elasticum (PXE), lacking the retinal and vascular stigmata associated with the inherited form of the disorder, but having skin lesions that are clinically, histologically, and ultrastructurally similar to those seen in the inherited type." "" + "elastoma" "" + "papular elastorrhexis" "An acquired form of collagenoma that appears in childhood. It is characterized by discrete, firm, skin-colored, and slightly elevated cutaneous papules, nodules or plaques that may be generalized, or found on the trunk and the extremities." "" + "primary anetoderma" "Primary anetoderma is a rare skin disease characterized by loss of elastin tissue resulting in localized areas of flaccid skin in the absence of a secondary cause." "" + "familial anetoderma" "Familial anetoderma is an extremely rare genetic skin disease characterized by loss of elastin tissue leading to localized areas of flaccid skin and a family history of the disorder." "" + "acquired cutis laxa" "An instance of cutis laxa that is acquired during the lifetime of the individual." "" + "white fibrous papulosis of the neck" "White fibrous papulosis of the neck (WFPN) is a rare, acquired, dermal elastic tissue disorder characterized by multiple, 2-3 mm sized, non-confluent, asymptomatic, white or pale-colored, non-follicular, firm papular lesions occurring predominantly on the lateral or posterior aspects of the neck. Other, rarely reported sites include inferior axillae, central mid-back and upper sternal region." "" + "pseudoxanthoma elasticum-like papillary dermal elastolysis" "Pseudoxanthoma elasticum-like papillary dermal elastolysis (PXE-PDE) is a rare, acquired, idiopathic dermal tissue disorder characterized by numerous, asymptomatic, 2-3 mm, yellowish, non-follicular papules that tend to converge into cobblestone-like plaques which are distributed symmetrically over the posterior neck, supraclavicular region, axillae, and sometimes abdomen. Unlike PXE, these skin lesions show select elimination (absence or marked loss) of elastic fibers in the papillary dermis and there is no systemic involvement." "" + "mid-dermal elastolysis" "" + "autoimmune hemolytic anemia, cold type" "Cold autoimmune hemolytic anemia comprises two types of autoimmune hemolytic anemia (AIHA) defined by the presence of cold autoantibodies (autoantibodies which are active at temperatures below 30B0C): cold agglutinin disease (CAD), which is the more common, and paroxysmal cold hemoglobinuria (PCH)." "" + "idiopathic hypersomnia with long sleep time" "Idiopathic hypersomnia with long sleep time is a sleep disorder characterized by good quality night rest of 10 hours or more, excessive daytime drowsiness that is more or less continual with long episodes of non-restorative sleep, and difficult waking with sleep drunkenness or sleep inertia." "" + "idiopathic hypersomnia" "Idiopathic hypersomnia is a sleep disorder classified in two forms: idiopathic hypersomnia with long sleep time and idiopathic hypersomnia without long sleep time." "" + "idiopathic hypersomnia without long sleep time" "Idiopathic hypersomnia without long sleep time is a sleep disorder characterized almost entirely by constant excessive daytime drowsiness lasting more than 3 months, with involuntary more or less restorative daytime naps. Night rest is of normal length or slightly prolonged but is less than 10 hours in duration, with often normal awakening." "" + "foodborne botulism" "Foodborne botulism is the most common form of botulism, a rare acquired neuromuscular junction disease with descending flaccid paralysis due to botulinum neurotoxins (BoNTs). It is caused by consumption of contaminated food containing BoNTs." "" + "severe early-onset axonal neuropathy due to NEFL deficiency" "Charcot-Marie-Tooth disease type 2B5 is a rare axonal hereditary motor and sensory neuropathy characterized by infantile onset of slowly progressive distal motor weakness and atrophy (more severe in legs and moderate in arms) with mildly delayed motor development, hypotonia, and distal sensory impairment of all sensory modalities." "" + "virus-associated trichodysplasia spinulosa" "Virus-associated trichodysplasia spinulosa is a rare infectious skin disease characterized by the development of follicular papules with keratin spicules in various parts of the body, predominantly in the face (e.g. nose, eyebrows, auricles), that is due to polyomavirus infection in immunocompromized patients." "" + "5q14.3 microdeletion syndrome" "The newly described 5q14.3 microdeletion syndrome includes severe intellectual deficit with no speech, stereotypic movements and epilepsy." "" + "ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome" "Ptosis - upper ocular movement limitation - absence of lacrimal punctum is a recently described association of absence of the lower lid lacrimal punctum, bilateral ptosis, elevation deficiency of both eyes and mild facial dysmorphism." "" + "8q12 microduplication syndrome" "The newly described 8q12 microduplication syndrome is associated with unusual and characteristic multi-organ clinical features, which include hearing loss, congenital heart defects, intellectual disability, hypotonia in infancy, and Duane anomaly." "" + "2q23.1 microdeletion syndrome" "The newly described 2q23.1 microdeletion syndrome includes severe intellectual deficit with pronounced speech delay, behavioral abnormalities including hyperactivity and inappropriate laughter, short stature and seizures." "" + "polyvalvular heart disease syndrome" "Polyvalvular heart disease syndrome is a recently described syndrome characterized by the combination of polyvalvular heart disease, short stature, facial anomalies and intellectual deficit." "" + "5q35 microduplication syndrome" "The newly described 5q35 microduplication syndrome is associated with microcephaly, short stature, developmental delay and delayed bone maturation." "" + "insulin-resistance syndrome type B" "Type B insulin-resistance syndrome belongs to the group of extreme insulin-resistance syndromes (which includes leprechaunism, the lipodystrophies, Rabson-Mendenhall syndrome, and type A insulin resistance syndrome) and occurs in the context of immune dysfunction." "" + "obsolete multiple intestinal atresia" "" "true" + "asbestosis" "A lung disorder caused by inhalation of asbestos fibers. It results in fibrosis of the lung parenchyma. Signs and symptoms include coughing, shortness of breath and chest pain." "" + "isotretinoin syndrome" "Isotretinoin embryopathy is an association of malformations caused by the teratogenic effect of isotretinoin, an oral synthetic vitamin A derivative, which is used to treat severe recalcitrant cystic acne. Exposure to isotretinoin during the first trimester of pregnancy has been associated with an increased risk of spontaneous abortions and severe birth defects including serious craniofacial (microcephaly, asymmetric crying facies, microphthalmia, developmental abnormalities of the external ear, ocular hypertelorism), cardio vascular (conotruncal heart defects, aortic arch abnormalities), and central nervous system (hydrocephalus, microcephaly, lissencephaly, Dandy-Walker malformation, cognitive deficit) anomalies and thymic aplasia. Isoretinoin is contraindicated during pregnancy." "" + "Ehlers-Danlos syndrome, vascular-like type" "Ehlers-Danlos, vascular-like type is an adult-onset form of Ehlers-Danlos syndrome characterized by spontaneous dissection of medium-sized arteries during young adulthood, including mainly the iliac, femoral, and renal arteries." "" + "Ehlers-Danlos/osteogenesis imperfecta syndrome" "Ehlers-Danlos/osteogenesis imperfecta syndrome is an association of the features of Ehlers-Danlos syndrome and osteogenesis imperfecta, characterized by generalized joint hypermobility and dislocations, skin hyperextensibility and/or translucency, and easy bruising as the predominant clinical features, while being invariably associated with mild signs of osteogenesis imperfecta, including short stature, blue sclera, and osteopenia or fractures." "" + "dracunculiasis" "Dracunculiasis (Guinea worm disease) is a neglected tropical disease (NTD) characterized by a painful burning skin lesion from which the Dracunculus medinensis parasite emerges approximately 1 year after infection resulting from consumption of unsafe drinking water containing parasite-infected copepods (Cyclops spp., microcrustacea also called water fleas)." "" + "drug-induced lupus erythematosus" "An autoimmune disorder, similar to systemic lupus erythematosus, that is caused by certain drugs." "" + "Beckwith-Wiedemann syndrome due to imprinting defect of 11p15" "" + "Beckwith-Wiedemann syndrome due to CDKN1C mutation" "" + "Beckwith-Wiedemann syndrome due to 11p15 microdeletion" "" + "Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion" "" + "silver-Russell syndrome due to 7p11.2p13 microduplication" "" + "partial duplication of the short arm of chromosome 7" "Chromosome 7p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 7. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 7p duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Most cases are not inherited, but people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person." "" + "silver-Russell syndrome due to an imprinting defect of 11p15" "" + "silver-Russell syndrome due to 11p15 microduplication" "" + "partial duplication of the short arm of chromosome 11" "" + "silver-Russell syndrome due to maternal uniparental disomy of chromosome 11" "" + "uniparental disomy of maternal origin" "True" + "chromosome 11 disorder" "Chromosomal disorder in which chromosome 11 is affected." "" + "beta-thalassemia major" "Beta-thalassemia (BT) major is a severe early-onset form of BT characterized by severe anemia requiring regular red blood cell transfusions." "" + "beta-thalassemia intermedia" "Beta-thalassemia (BT) intermedia is a form of BT characterized by mild to moderate anemia which does not or only occasionally requires transfusion." "" + "beta-thalassemia associated with another hemoglobin anomaly" "Beta-thalassemias associated with hemoglobin (Hb) anomalies result in a variable clinical spectrum, ranging from asymptomatic to severe, depending on the severity of the thalassemia mutation and on the type of the Hb anomaly [hereditary persistence of fetal Hb, delta-beta-thalassemia, Hb C - beta-thalassemia, Hb E - beta-thalassemia and Hb S - beta-thalassemia ]." "True" + "beta-thalassemia and related diseases" "" + "delta-beta-thalassemia" "Delta-beta-thalassemia is a form of beta-thalassemia characterized by decreased or absent synthesis of the delta- and beta-globin chains with a compensatory increase in expression of fetal gamma-chain synthesis." "" + "hemoglobin C-beta-thalassemia syndrome" "Hemoglobin C - beta-thalassemia (HbC - BT) is a form of beta-thalassemia resulting in moderate hemolytic anemia." "" + "hemoglobin E-beta-thalassemia syndrome" "Hemoglobin E - beta-thalassemia (HbE - BT) is a form of beta-thalassemia that results in a mild to severe clinical presentation ranging from a condition indistinguishable from beta-thalassemia major to a mild form of beta-thalassemia intermedia." "" + "variant of Guillain-Barre syndrome" "" + "functional variant of Guillain-Barre syndrome" "" + "pharyngeal-cervical-brachial variant of Guillain-Barre syndrome" "" + "paraparetic variant of Guillain-Barre syndrome" "Paraparetic variant of Guillain-Barré syndrome is a rare variant of Guillain-Barré syndrome characterized by isolated leg weakness, areflexia and radicular leg pain that may simulate a cauda equina or spinal cord syndrome. The arms, ocular, facial, and oropharyngeal muscles are spared, and sphincteric function is normal." "" + "acute pure sensory neuropathy" "" + "acute pandysautonomia" "Acute pandysautonomia is a rare variant of Guillain-Barré syndrome characterized by acute post-ganglionic sympathetic and parasympathetic failure presenting several weeks after acute infection with gastrointestinal symptoms (abdominal pain, vomiting, constipation, diarrhea, gastroparesis, ileus), orthostatic hypotension, erectile dysfunction, urinary frequency, urgency or retention, vasomotor instability with acrocyanosis and reduced salivation, lacrimation and sweating." "" + "acute sensory ataxic neuropathy" "Acute sensory ataxic neuropathy is a rare variant of Guillain-Barré syndrome characterized by acute onset monophasic sensory neuropathy with diminished or absent tendon reflexes, loss of proprioception, positive Romberg sign and nerve conduction features of demyelination. It presents several weeks after acute infection with paresthesias, ataxia and neuropathic pain." "" + "congenital erosive and vesicular dermatosis" "" + "primary unilateral adrenal hyperplasia" "Primary unilateral adrenal hyperplasia (PUAH) is a surgically-correctable form of primary (hyper) aldosteronism (PA) characterized by renin suppression, unilateral aldosterone hypersecretion, and moderate to severe hypertension secondary to hyperplasia of the adrenal gland." "" + "ectopic aldosterone-producing tumor" "Ectopic aldosterone-producing tumor is an extremely rare aldosterone-producing neoplasm composed of aberrant adrenocortical tissue located outside the adrenal glands (e.g. in retroperitoneum, perirenal or periaortic fatty tissue, thorax, spinal canal, testes, ovaries) typically characterized by symptoms related to increased aldosterone levels (such as sustained, treatment-resistant hypertension and hypokalemia) or symptoms caused by local tumor enlargement." "" + "obsolete rare surgically correctable form of primary aldosteronism" "Surgically correctable forms of primary aldosteronism (also known as primary hyperaldosteronism) are characterized by unilateral aldosterone hypersecretion and renin suppression, associated with varying degrees of hypertension and hypokalemia." "True" "true" + "obsolete rare non surgically correctable form of primary aldosteronism" "True" "true" + "microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome" "" + "epibulbar lipodermoid-preauricular appendage-polythelia syndrome" "Epibulbar lipodermoid B preauricular appendages B polythelia is a branchial arch syndrome described in seven sibs of one Danish family and characterized by supernumerary nipples (polythelia), preauricular appendages and often binocular epibulbar lipodermoids or unilateral subconjunctival lipodermoids." "" + "epidermolysis bullosa simplex with anodontia/hypodontia" "" + "Kallmann syndrome-heart disease syndrome" "Kallmann syndrome with cardiopathy is characterised by hypogonadotropic hypogonadism associated with gonadotropin-releasing hormone (GnRH) deficiency, anosmia or hyposmia (with hypoplasia or aplasia of the olfactory bulbs) and complex congenital cardiac malformations (double-outlet right ventricle, dilated cardiomyopathy, right aortic arch). It represents a distinct clinical entity from Kallmann syndrome." "" + "obsolete rare genetic vascular disease" "Rare genetic vascular disease." "True" "true" + "obsolete keratosis follicularis spinulosa decalvans" "" "true" + "muscular pseudohypertrophy-hypothyroidism syndrome" "Muscular pseudohypertropy - hypothyroidism, also known as Kocher-Debre-Semelaigne syndrome is a rare disorder characterized by pseudohypertrophy of muscles due to longstanding hypothyroidism." "" + "Kousseff syndrome" "A syndrome characterized by the association of conotruncal heart defects, myelomeningocele and craniofacial dysmorphism similar to that seen in monosomy 22q11." "" + "bronchogenic cyst" "Bronchogenic cysts (BCs) are congenital malformations resulting from abnormal budding of the foregut and are most commonly found in the mediastinum." "" + "trisomy 9p" "Trisomy 9p is a rare chromosomal anomaly syndrome, resulting from a partial or complete trisomy of the short arm of chromosome 9, with a wide phenotypic variablility, typically characterized by intellectual disability, craniofacial dysmorphism (e.g. microcephaly, large anterior fontanel, hypertelorism, strabismus, downslanting palpebral fissures, malformed, low-set, protruding ears, bulbous nose, macrostomia, down-turned corners of mouth, micrognathia), digital anomalies (brachydactyly and clinodactyly), and short stature. Less frequently patients present with cardiopathy and renal, skeletal, and central nervous system malformations." "" + "partial trisomy of the short arm of chromosome 9" "Chromosome 9p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 9." "True" + "limb body wall complex" "Limb body wall complex (LBWC) is characterized by severe multiple congenital anomalies in the fetus with exencephaly/encephalocele, thoraco- and/or abdominoschisis (anterior body wall defects) and limb defects, with or without facial clefts." "" + "duplication of urethra" "Duplication of the urethra is a rare congenital genitourinary anomaly, encompassing a wide spectrum of anatomic variants in which the urethra is partially or totally duplicated, which may be asymptomatic or cause symptoms such as incontinence, recurrent urinary infections and difficulty urinating." "" + "laryngocele" "A rare congenital malformation in the larynx. It is characterized by the presence of an air-filled sac within the laryngeal wall which may bulge on the neck." "" + "digestive duplication" "" + "apolipoprotein A-II amyloidosis" "" + "infundibulo-neurohypophysitis" "" + "primary hypophysitis" "Immune-mediated inflammation of the pituitary gland often associated with other autoimmune diseases (e.g., hashimoto disease; graves disease; and addison disease)." "" + "obsolete hypotonia-cystinuria syndrome type 1" "" "true" + "atypical hypotonia-cystinuria syndrome" "A form of hypotonia-cystinuria syndrome characterized by mild to moderate intellectual disability in addition to classic hypotonia-cystinuria syndrome phenotype (cystinuria type 1, generalised hypotonia, poor feeding, growth retardation, and minor facial dysmorphism)." "" + "secondary polycythemia" "Secondary polycythemia is an elevated absolute red blood cell mass caused by enhanced stimulation of red blood cell production by an otherwise normal erythroid lineage that may be congenital or acquired (congenital secondary polycythemia and acquired secondary polycythemia)." "" + "IgG4-related mesenteritis" "Sclerosing mesenteritis (SM) is a rare pathological disease causing inflammation of the adipose tissue of the small bowel mesentery and is commonly associated with abdominal pain, diarrhea, nausea, weight loss, bloating and loss of appetite. The two subforms include mesenteric panniculitis (where inflammation and fatty necrosis are dominant features) and retractile mesenteritis (where fibrosis and retraction dominate)." "" + "leukoencephalopathy-palmoplantar keratoderma syndrome" "Leukoencephalopathy-palmoplantar keratoderma syndrome is a rare, genetic epidermal disease characterized by early childhood-onset of punctate palmoplantar keratoderma in association with adult-onset leukoencephalopathy manifested by progressive tetrapyramidal syndrome and cognitive deterioration." "" + "primary orthostatic tremor" "Primary orthostatic tremor (POT), or ``shaky legs syndrome'', is a rare movement disorder characterized by fast, task-specific tremor, affecting the legs and trunk while standing." "" + "Beckwith-Wiedemann syndrome due to NSD1 mutation" "" + "megacystis-megaureter syndrome" "Megacystic-megaureter syndrome is an urinary tract malformation characterized by the presence of a massive primary non-obstructive vesicoureteral reflux and a large capacity, smooth, thin walled bladder due to the continual recycling of refluxed urine. Recurrent urinary infections are commonly associated with this condition." "" + "primary megaureter, adult-onset form" "" + "congenital primary megaureter" "Congenital primary megaureter (PM) is an idiopathic condition in which the bladder and bladder outlet are normal but the ureter is dilated to some extent. It may be obstructed, refluxing or unobstructed and not refluxing." "" + "congenital primary megaureter, obstructed form" "" + "congenital primary megaureter, refluxing form" "" + "congenital primary megaureter, nonrefluxing and unobstructed form" "" + "neonatal iodine exposure" "Neonatal iodine exposure is a rare endocrine disease characterized by the appearance of transient hypothyroidism, usually in preterm newborns, following long or short-term topical iodine exposure. Parenteral exposure from iodinated contrast agents may similarly alter thyroid funtion in term neonates." "" + "transient congenital hypothyroidism due to neonatal factor" "" + "leukonychia totalis" "Leukonychia totalis is a rare nail anomaly disorder characterized by complete white discoloration of the nails. Patients typically present white, chalky nails as an isolated finding, although other cutaneous or systemic manifestations could also be present." "" + "glaucoma secondary to spherophakia/ectopia lentis and megalocornea" "Glaucoma secondary to spherophakia/ectopia lentis and megalocornea is a rare, genetic, non-syndromic developmental defect of the eye disorder characterized by congenital megalocornea associated with spherophakia and/or ectopia lentis leading to pupillary block and secondary glaucoma. Additional features may include flat irides, iridodonesis, axial myopia, very deep anterior chambers, miotic, oval pupils without well-defined borders, ocular pain and irritability manifesting as conjunctival injection, corneal edema and central scarring, as well as a high arched palate." "" + "ptosis-syndactyly-learning difficulties syndrome" "" + "1q44 microdeletion syndrome" "1q44 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, developmental delay, in particular of expressive speech, seizures and hypotonia." "" + "progressive supranuclear palsy-pure akinesia with gait freezing syndrome" "PSP-Pure akinesia with gait freezing (PSP-PAGF) is an atypical variant of progressive supranuclear palsy (PSP), a rare late-onset neurodegenerative disease." "" + "progressive supranuclear palsy-corticobasal syndrome" "PSP-corticobasal syndrome (PSP-CBS) is an atypical variant of progressive supranuclear palsy (PSP), a rare late-onset neurodegenerative disease." "" + "progressive supranuclear palsy-progressive non-fluent aphasia syndrome" "PSP-progressive non fluent aphasia (PSP-PNFA) is an atypical variant of progressive supranuclear palsy (PSP), a rare late-onset neurodegenerative disease. Unlike classic PSP (Richardson syndrome) patients present with an isolated speech production problem years before developing other motor features of PSP." "" + "inherited obesity" "" + "loiasis" "Loiasis is a form of filariasis (see this term), caused by the parasitic worm Loa loa, endemic to the forest and savannah regions of Central and Western Africa. Loiasis may either be asymptomatic or manifest as a large, transient area of localized, non-erythematous subcutaneous edema (Calabar swellings), adult worm migration through the sub-conjunctiva (''African eye worm'') and pruritus. Generalized itching, hives, muscle pains, arthralgias, fatigue, and adult worms visibly migrating under the surface of the skin may be observed. Severe complications such as encephalopathy have been reported in highly infected individuals receiving ivermectin during mass drug administration programs for the control of onchocerciasis and lymphatic filariasis." "" + "locked-in syndrome" "Locked-in syndrome (LIS) is a neurological condition characterized by the presence of sustained eye opening, quadriplegia or quadriparesis, anarthria, preserved cognitive functioning and a primary code of communication that uses vertical eye movements or blinking." "" + "Lowe-Kohn-Cohen syndrome" "Lowe-Kohn-Cohen syndrome is an extremely rare anorectal malformation syndrome characterized by imperforate anus, closed ano-perineal fistula, preauricular skin tag and absent renal abnormalities and pre-axial limb deformities. There have been no further descriptions in the literature since 1983." "" + "obsolete rare lymphatic malformation" "" "true" + "primary pulmonary lymphoma" "Primary pulmonary lymphoma (PPL) is a rare lymphoma of the lung, defined as a clonal lymphoid proliferation affecting one or both lungs (parenchyma and/or bronchi) in a patient with no detectable extrapulmonary involvement at diagnosis or during the subsequent 3 months. PPL comprises low grade/indolent B cell PPL forms, the most frequent form represented by the marginal B-cell lymphoma of mucosa associated lymphoid tissue (MALT lymphoma) and other non-MALT low grade lymphomas; and more rarely high-grade B-cell PPL (including diffuse large B cell lymphoma) and lymphomatoid granulomatosis (LYG)." "" + "macrocephaly-short stature-paraplegia syndrome" "Macrocephaly-short stature-paraplegia syndrome is characterized by macrocephaly and midface hypoplasia, intellectual deficit, short stature, spastic paraplegia and severe central nervous system anomalies (hydrocephalus and Dandy-Walker malformation). It has been described in two unrelated adults." "" + "central bilateral macrogyria" "Central bilateral macrogyria is a neuronal migration disorder characterised by pseudobulbar palsy, developmental delay, mild mental retardation and epilepsy. It has been described in at least four children." "" + "cerebral cortical dysplasia" "Abnormalities in the development of the cerebral cortex. These include malformations arising from abnormal neuronal and glial cell proliferation or apoptosis (Group I); abnormal neuronal migration (Group ii); and abnormal establishment of cortical organization (Group iii). Many inborn metabolic brain disorders affecting cns formation are often associated with cortical malformations. They are common causes of epilepsy and developmental delay." "" + "acute fatty liver of pregnancy" "Acute fatty liver of pregnancy is a rare but severe complication occurring in the third trimester of pregnancy or in early postpartum period bearing a risk for perinatal and maternal mortality and characterized by jaundice, rise of hepatic injuries and evolving to acute liver failure and encephalopathy." "" + "hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome" "Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome is a neurocutaneous syndrome characterised by congenital hypomelanotic and hypermelanotic cutaneous macules. It has been described in individuals spanning three generations of an Indian family. Some of the patients also had retarded growth and intellectual deficit." "" + "male infertility due to sperm motility disorder" "True" + "split hand or/and split foot malformation" "" + "biliary atresia with splenic malformation syndrome" "Biliary atresia with splenic malformation syndrome (BASM) designates the association of biliary atresia and splenic abnormalities (mainly polysplenia and less frequently asplenia, double spleen). Cardiac defect, situs inversus and a preduodenal portal vein can also be present. It represents the embryonal or syndromic form of biliary atresia. It affects newborns or infants and is characterized by jaundice, pale stools, dark urine, failure to thrive, hepatomegaly, coagulopathy, anemia and often palpable spleen." "" + "congenital pulmonary airway malformation" "An abnormality in lung development that is characterized by a multicystic mass resulting from an adenomatous overgrowth of the terminal bronchioles with a consequent reduction of pulmonary alveoli. This anomaly is classified into three types by the cyst size." "" + "congenital mitral malformation" "" + "atrioventricular valve anomaly" "" + "familial intestinal malrotation-facial anomalies syndrome" "" + "obsolete mansonelliasis" "" "true" + "systemic mastocytosis" "Systemic mastocytosis (SM) comprises a heterogeneous group of rare acquired and chronic hematological malignancies that are related to an abnormal proliferation of mast cells in tissue, including bone marrow, with or without skin involvement." "" + "infantile mercury poisoning" "Infantile mercury poisoning is a rare intoxication affecting children, most commonly characterized by erythema of the hands, feet and nose, edematous, painful, pink to red, desquamating fingers and toes, bluish, cold and wet extremities, excessive sweating, irritability, photophobia, muscle weakness, diffuse hypotonia, paresthesia, hypertension and tachycardia, due to elemental, organic or inorganic mercury exposure. Additional manifestations include alopecia, loss of appetite, excessive salivation with red and swollen gums, tooth and nail loss, and insomnia." "" + "mercury poisoning" "Mercury poisoning is caused mainly through ingestion or inhalation of any of the 3 forms of mercury, elemental, organic, and inorganic. Exposure to elemental mercury affects the pulmonary (inhalation of mercury vapors causes coughing, chills, fever, shortness of breath), dermatological (mild swelling, vesiculation, scaling, irritation, urticaria, erythema and allergic contact dermatitis accompanied by pain), and peripheral and central nervous (CNS) systems (depression, paranoia, extreme irritability, hallucinations, inability to concentrate, memory loss, hands, head, lips, tongue, jaw and eyelids tremors, weight loss, perpetually low body temperature, drowsiness, headaches, insomnia, fatigue). Exposure to inorganic mercury generally causes development of a metallic taste, local oropharyngeal pain, nausea, vomiting, bloody diarrhea, colic abdominal pain, renal dysfunction and, neurologic abnormalities; while that to organic mercury can lead to delayed neurotoxicity." "" + "obsolete collecting duct carcinoma" "" "true" + "sporadic adult-onset ataxia of unknown etiology" "Sporadic adult-onset ataxia of unknown etiology describes a group of non-hereditary degenerative ataxias characterized by a slowly progressive cerebellar syndrome (with ataxia of stance and gait, upper limb dysmetria and intention tremor, ataxic speech, and oculomotor abnormalities), presenting in adulthood (at around 50 years of age), that is not due to a known cause. Extracerebellar symptoms (e.g., decreased vibration sense and absent or decreased ankle reflexes), polyneuropathy and mild autonomic dysfunction may also be present. Mild cognitive impairment has also rarely been reported." "" + "acquired ataxia" "A type of ataxia that is acquired during the lifetime of the individual." "" + "superficial siderosis" "Superficial siderosis is a rare neurologic disease characterized by progressive sensorineural hearing loss, cerebellar ataxia, pyramidal signs, and neuroimaging findings revealing hemosiderin deposits in the spinal and cranial leptomeninges and subpial layer. The disease progresses slowly and patients may present with mild cognitive impairment, nystagmus, dysmetria, spasticity, dysdiadochokinesia, dysarthria, hyperreflexia, and Babinski signs. Additional features reported include dementia, urinary incontinence, anosmia, ageusia, and anisocoria." "" + "inhalational anthrax" "A rare acute systemic infection caused by the inhalation of Bacillus anthracis spores (e.g. through infected animal products, bioterrorism) and characterized by an initial stage where patients present with non specific symptoms (fever, cough, chills, fatigue) that is followed by an acute phase during which hemorrhagic mediastinitis occurs that can progress into meningitis, gastrointestinal involvement, and refractory shock, that can be fatal, if left untreated." "" + "obsolete generalized pustular psoriasis" "" "true" + "autosomal recessive secondary polycythemia not associated with VHL gene" "" + "acute neonatal citrullinemia type I" "Acute neonatal citrullinemia type I is a severe form of citrullinemia type 1 characterized biologically by hyperammonemia and clinically by progressive lethargy, poor feeding and vomiting, seizures and possible loss of consciousness, within one to a few days of birth, with variable signs of increased intracranial pressure. The condition can lead to significant neurologic deficits." "" + "adult-onset citrullinemia type I" "Adult-onset citrullinemia type I is a form of citrullinemia type I characterized clinically by adult onset of symptoms including variable hyperammonemia and less striking neurological findings which may include intense headache, scotomas, migraine-like episodes, ataxia, slurred speech, lethargy and drowsiness. Serious increased intracranial pressure may occur." "" + "dysraphism-cleft lip/palate-limb reduction defects syndrome" "" + "perinatal lethal hypophosphatasia" "A rare, genetic form of hypophosphatasia (HPP) characterized by markedly impaired bone mineralization in utero due to reduced activity of serum alkaline phosphatase (ALP) and causing stillbirth or respiratory failure within days of birth." "" + "hypophosphatasia" "Hypophosphatasia (HPP) is a rare heritable metabolic disorder characterized by defective mineralization of bone and/or teeth in the presence of reduced activity of unfractionated serum alkaline phosphatase (ALP). The clinical spectrum is extremely wide, from stillbirth at one end to fractures of the lower extremities in adulthood, at the other, or even no bone manifestations (odontohypophosphatasia)." "" + "obsolete prenatal benign hypophosphatasia" "Prenatal benign hypophosphatasia (PB-HPP) is a very rare form of hypophosphatasia characterized by prenatal skeletal manifestations (limb shortening and bowing) that slowly resolve spontaneously and later develop into the milder infantile, childhood or adult forms of the disease." "" "true" + "odontohypophosphatasia" "Odontohypophosphatasia (odonto-HPP) is the least severe form of hypophosphatasia characterized by premature exfoliation of primary and/or permanent teeth and/or severe dental caries, in the absence of skeletal system abnormalities." "" + "inflammatory myopathy with abundant macrophages" "Inflammatory myopathy with abundant macrophages is a rare inflammatory myopathy characterized by diffuse destructive infiltration of CD68+ macrophages into the fascia rather than muscle fibers in muscle biopsies, proximal muscle weakness and myalgia with or without scaly dermatomyositis-like or atypical non-dermatomyositis-like skin lesions, elevation of creatine kinase levels and thickening of muscle fascia in muscle MRI." "" + "idiopathic eosinophilic myositis" "" + "lipoblastoma" "A lipoma usually occurring in the extremities of young children (usually boys). It is characterized by lobules of adipose tissue, separated by fibrous septa. The adipose tissue is composed of mature adipocytes and lipoblasts. The lipoblasts may be scarce, depending on the age of the patient." "" + "APC-related attenuated familial adenomatous polyposis" "" + "autosomal recessive ataxia due to PEX10 deficiency" "" + "oligoarticular juvenile idiopathic arthritis with anti-nuclear antibodies" "" + "oligoarticular juvenile idiopathic arthritis" "Oligoarticular juvenile arthritis is the most common form of juvenile idiopathic arthritis (JIA), representing nearly 50% of cases." "" + "oligoarticular juvenile idiopathic arthritis without anti-nuclear antibodies" "" + "rheumatoid factor-negative juvenile idiopathic arthritis with anti-nuclear antibodies" "" + "rheumatoid factor-negative juvenile idiopathic arthritis" "Rheumatoid factor-negative polyarthritis is a term used to describe a group of poorly defined heterogenous conditions that incorporates forms of rheumatoid factor-negative polyarthritis and forms of oligoarticular arthritis that become extensive in less than 6 months after onset." "" + "rheumatoid factor-negative juvenile idiopathic arthritis without anti-nuclear antibodies" "" + "juvenile Huntington disease" "Juvenile Huntington disease (JHD) is a form of Huntington disease (HD), characterized by onset of signs and symptoms before 20 years of age." "" + "Melhem-Fahl syndrome" "Melhem-Fahl syndrome was described in two siblings born to consanguineous parents in 1985 and was characterized by the presence of 15 dorsal vertebrae and rib pairs. No other cases have been documented since the initial report." "" + "obsolete rare deficiency anemia" "Any of the forms of deficiency anemia that have a rare incidence." "True" "true" + "inherited deficiency anemia" "" + "acquired deficiency anemia" "An instance of deficiency anemia that is acquired during the lifetime of the individual." "" + "hemolytic anemia due to glyceraldehyde-3-phosphate dehydrogenase deficiency" "" + "obsolete rare hemorrhagic disorder" "True" "true" + "obsolete hemorrhagic disorder due to a platelet anomaly" "" "true" + "isolated delta-storage pool disease" "Isolated delta-storage pool disease is a rare, isolated, constitutional thrombocytopenia disorder characterized by defective formation and/or malfunction of platelet dense granules, as well as melanosomes in skin cells, resulting in variable manifestations ranging from mild bleeding and easy bruising to moderate mucous/cutaneous hemorrhagic diathesis and bleeding complications after surgery." "" + "obsolete hemorrhagic disorder due to an acquired platelet anomaly" "A hemorrhagic disorder due to a platelet anomaly which develops after birth." "True" "true" + "obsolete thrombotic disorder due to a coagulation factors defect" "" "true" + "obsolete thrombotic disorder due to a constitutional coagulation factors defect" "True" "true" + "obsolete thrombotic disorder due to a platelet anomaly" "" "true" + "obsolete thrombotic disorder due to a constitutional platelet anomaly" "True" "true" + "obsolete thrombotic disorder due to an acquired platelet anomaly" "True" "true" + "familial hypodysfibrinogenemia" "" + "lower limb deficiency-hypospadias syndrome" "Lower limb malformation-hypospadias syndrome is a rare developmental defect during embryogenesis characterized by severe, uni- or bilateral lower limb malformations (incl. tibial hypoplasia, split and rocker bottom-shaped feet, and oligosyndactyly), normal upper limbs and hypospadias. Additional dysmorphic features (e.g. short neck and low-set, large ears), atrial septal defect, ureteropelvic junction stenosis and slight septation of the spleen, have also been reported. There have been no further descriptions in the literature since 1977." "" + "obsolete fibrous dysplasia of bone" "" "true" + "limb transversal defect-cardiac anomaly syndrome" "" + "tumor of meninges" "A benign or malignant neoplasm that affects the meninges. The majority of the neoplasms arise from meningothelial cells and are called meningiomas. Non-meningothelial cell neoplasms include mesenchymal, non-meningothelial tumors, hemangiopericytomas, and melanocytic lesions." "" + "logopenic progressive aphasia" "Logopenic progressive aphasia (lv-PPA) is a form of primary progressive aphasia (PPA), characterized by impaired single-word retrieval and naming and impaired repetition with spared single-word comprehension and object knowledge." "" + "obsolete rare neoplastic disease" "True" "true" + "autosomal dominant optic atrophy and peripheral neuropathy" "Autosomal dominant optic atrophy and peripheral neuropathy (ADOAPN) is a form of autosomal dominant optic atrophy (ADOA), characterized by progressive and isolated visual loss in the first decade of life, decreased reflexes in the lower limbs and a mild cerebellar stance." "" + "paternal uniparental disomy of chromosome 1" "Paternal uniparental disomy of chromosome 1 is an uniparental disomy of paternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier." "" + "maternal uniparental disomy of chromosome 1" "Maternal uniparental disomy of chromosome 1 is an uniparental disomy of maternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier." "" + "2q31.1 microdeletion syndrome" "2q31.1 microdeletion syndrome is a well-defined and clinically recognisable syndrome characterized by moderate to severe developmental delay, short stature, facial dysmorphism and variable limb defects." "" + "2q33.1 microdeletion syndrome" "2q33.1 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 2, with a highly variable phenotype typically characterized by severe intellectual disability, moderate to severe developmental delay (particularly speech), feeding difficulties, failure to thrive, hypotonia, thin, sparse hair, various dental abnormalities and cleft/high-arched palate. Typical dysmorphic features inlcude high, prominent forehead, down-slanting palpebral fissures and prominent nasal bridge with beaked nose. Various behavioral problems (e.g. hyperactivity, chaotic/repetitive behavior, touch avoidance) are also associated." "" + "ring chromosome 5" "Ring chromosome 5 syndrome is a rare chromosomal anomaly syndrome, with high phenotypic variability, principally characterized by a neonatal mewing cry, severe developmental delay and intellectual disability, short stature, hypotonia, dysmorphic features (incl. microcephaly, facial asymmetry, hypertelorism, epicanthal folds, abnormal ears, micro/retrognathia), congenital cardiac anomalies (such as atrial and ventricular septal defect, tricuspid insufficiency, hypoplastic aorta) and skeletal abnormalities (e.g. hypoplastic thumbs, anomalous ulna/radius, dysplastic metacarpals and phalanges)." "" + "chromosome 5 disorder" "Chromosomal disorder in which chromosome 5 is affected." "" + "6p22 microdeletion syndrome" "6p22 microdeletion syndrome is a newly described syndrome associated with a variable clinical phenotype including developmental delay, facial dysmorphism, short neck and diverse malformations." "" + "7q31 microdeletion syndrome" "" + "8p11.2 deletion syndrome" "8p11.2 deletion syndrome is a contiguous gene syndrome characterized by the association of congenital spherocytosis, dysmorphic features, growth delay and hypogonadotropic hypogonadism." "" + "partial deletion of the short arm of chromosome 8" "Chromosome 8p deletion is a chromosome abnormality that affects many different parts of the body. People with this condition are missing genetic material located on the short arm (p) of chromosome 8 in each cell. The severity of the condition and the associated signs and symptoms vary based on the size and location of the deletion and which genes are involved. Most cases are not inherited, although affected people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person." "" + "8p23.1 microdeletion syndrome" "8p23.1 deletion involves a partial deletion of the short arm of chromosome 8 characterized by low birth weight, postnatal growth deficiency, mild intellectual deficit, hyperactivity, craniofacial abnormalities, and congenital heart defects." "" + "8p23.1 duplication syndrome" "8p23.1 duplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 8, with a highly variable phenotype, principally characterized by mild to moderate developmental delay, intellectual disability, mild facial dysmorphism (incl. prominent forehead, arched eyebrows, broad nasal bridge, upturned nares, cleft lip and/or palate) and congenital cardiac anomalies (e.g., atrioventricular septal defect). Other reported features include macrocephaly, behavioral abnormalities (e.g., attention deficit disorder), seizures, hypotonia and ocular and digital anomalies (poly/syndactyly)." "" + "partial duplication of the short arm of chromosome 8" "Chromosome 8p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 8. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 8p duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Most cases are not inherited, but people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person." "" + "infantile onset panniculitis with uveitis and systemic granulomatosis" "" + "granulomatous autoinflammatory syndrome" "" + "idiopathic recurrent pericarditis" "A rare autoinflammatory syndrome defined as recurrence of pericardial inflammation of unknown origin following the first episode of acute pericarditis and a symptom-free interval of 4-6 weeks or longer. Recurrent attacks of chest pain may be the sole presentation or the chest pain may be accompanied by pericardial friction rub, electrocardiographic or echocardiographic changes, pericardial effusion and increased C-reactive protein. Cardiac tamponade is a rare, life-threatening complication." "" + "drug-induced vasculitis" "A skin hypersensitivity reaction due to exposure to a pharmacologic substance that is characterized by raised purpuric lesions, red macules, hemorrhagic blisters and ulcerations." "" + "secondary vasculitis" "" + "obsolete unclassified vasculitis" "" "true" + "unexplained long-lasting fever/inflammatory syndrome" "" + "sickle cell disease associated with an other hemoglobin anomaly" "" + "sickle cell-beta-thalassemia disease syndrome" "Sickle beta thalassemia is an inherited condition that affects hemoglobin, the protein in red blood cells that carries oxygen to different parts of the body.It is a type of sickle cell disease. Affected people havea differentchange (mutation) in each copy of their HBB gene: onethat causes red blood cells to form a 'sickle' or crescent shape and a second that is associated with beta thalassemia, a blood disorder that reduces the production of hemoglobin. Depending on the beta thalassemia mutation, people may have no normal hemoglobin (called sickle beta zero thalassemia) or a reduced amount of normal hemoglobin (called sickle beta plus thalassemia). The presence of sickle-shaped red blood cells, which often breakdown prematurely and can get stuck in blood vessels, combined with the reduction or absence of mature redblood cells leadsto the many signs and symptoms of sickle beta thalassemia. Features, which may include anemia (low levels of red blood cells), repeated infections, and frequent episodes of pain, generally develop in early childhood and vary in severity depending on the amount of normal hemoglobin made. Sickle beta thalassemia is inherited in an autosomal recessive manner. Treatment is supportive and depends on the signs and symptoms present in each person." "" + "sickle cell-hemoglobin c disease syndrome" "" + "sickle cell-hemoglobin d disease syndrome" "" + "sickle cell-hemoglobin E disease syndrome" "" + "hereditary persistence of fetal hemoglobin-sickle cell disease syndrome" "" + "localized junctional epidermolysis bullosa, non-Herlitz type" "Junctional epidermolysis bullosa, localized non-Herlitz-type is a form of non-Herlitz junctional epidermolysis bullosa (JEB-nH) characterized by localized blistering, and dystrophic or absent nails." "" + "distal arthrogryposis type 10" "" + "recurrent infections-inflammatory syndrome due to zinc metabolism disorder syndrome" "Hyperzincemia and hypercalprotectinemia is a rare inborn error of zinc metabolism characterized by recurrent infections, hepatosplenomegaly, anemia (unresponsive to iron supplementation) and chronic systemic inflammation in the presence of high plasma concentrations of zinc and calprotectin. Patients typically present dermal ulcers or other cutaneous manifestations (e.g. inflammation) and arthralgia. Severe epistaxis and spontaneous hematomas have also been reported." "" + "obsolete rare tumor of neuroepithelial tissue" "Any of the forms of neuroepithelial neoplasm that have a rare incidence." "True" "true" + "gliosarcoma" "A rare histological variant of glioblastoma (WHO grade IV) characterized by a biphasic tissue pattern with alternating areas displaying glial and mesenchymal differentiation (WHO)." "" + "giant cell glioblastoma" "A rare histological variant of glioblastoma (WHO grade IV) with a predominance of bizarre, multinucleated giant cells, an occasionally abundant stromal reticulin network, and a high frequency of TP53 mutations. (WHO)" "" + "gliomatosis cerebri" "A diffuse glial tumor which infiltrates the brain extensively, involving more than two lobes. It is frequently bilateral and often extends to the infratentorial structures, even to the spinal cord. It is probably of astrocytic origin, although GFAP expression may be scant or absent. (Adapted from WHO.)" "" + "anaplastic astrocytoma" "Anaplastic astrocytoma is a rare, high-grade, malignant glial tumor, histologically characterized by abundance of pleomorphic astrocytes and multiple mitotic figures, often associated with diffuse infiltration of the surrounding tissue, considerable edema and mass effect and involvement of the contralateral brain. Depending on the primary localization of the tumor, patients can present with signs of raised intracranial pressure (headache, vomiting, papilledema), seizures, progressive neurological deficits, and/or behavioral changes. The tumor is most commonly localized in the frontal and temporal lobes, brain stem and spinal cord." "" + "low grade astrocytic tumor" "A grade I or grade II astrocytic tumor. This category includes pilocytic astrocytoma (grade I), subependymal giant cell astrocytoma (grade I), and diffuse astrocytoma (grade II)." "" + "diffuse astrocytoma" "A low-grade (WHO grade II) astrocytic neoplasm. It is characterized by diffuse infiltration of neighboring central nervous system structures. These lesions typically affect young adults and have a tendency for progression to anaplastic astrocytoma and glioblastoma. Based on the IDH genes mutation status, diffuse astrocytomas are classified as IDH-mutant, IDH-wildtype, and not otherwise specified." "" + "grade II glioma" "A glioma arising from the central nervous system. This category includes diffuse astrocytoma, ependymoma, oligodendroglioma, and oligoastrocytoma." "" + "protoplasmic astrocytoma" "A rare variant of diffuse astrocytoma. It is predominantly composed of neoplastic astrocytes showing a small cell body with few, flaccid processes with a low content of glial filaments and scant GFAP expression. This lesion is not well defined and is considered by some authors as an occasional histopathological feature rather than a reproducibly identifiable variant. When occurring in children, this neoplasm may be difficult to separate from pilocytic juvenile astrocytoma. (Adapted from WHO)" "" + "fibrillary astrocytoma" "The most frequent histological variant of diffuse astrocytoma. It is predominantly composed of fibrillary neoplastic astrocytes. Nuclear atypia is a diagnostic criterion but mitotic activity, necrosis and microvascular proliferation are absent. The occasional or regional occurrence of gemistocytic neoplastic cells is compatible with the diagnosis of fibrillary astrocytoma. (WHO)" "" + "gemistocytic astrocytoma" "A rare variant of diffuse astrocytoma. It is characterized by the presence of a conspicuous, though variable, fraction of gemistocytic neoplastic astrocytes. Gemistocytes are round to oval astrocytes with abundant, glassy, non-fibrillary cytoplasm which appears to displace the dark, angulated nucleus to the periphery of the cell. To make the diagnosis of gemistocytic astrocytoma, gemistocytes should amount to more than approximately 20% of all tumor cells. (Adapted from WHO)" "" + "pleomorphic xanthoastrocytoma" "A WHO grade ll astrocytic tumor with a relatively favorable prognosis. It is characterized by pleomorphic and lipidized cells expressing GFAP often surrounded by a reticulin network and eosinophilic granular bodies. It presents in the superficial cerebral hemispheres and involves the meninges. It typically affects children and young adults." "" + "pilomyxoid astrocytoma" "An astrocytic tumor of uncertain relation to pilocytic astrocytoma. It occurs predominantly in infants and young children. It is characterized by a monomorphic architectural pattern, usually associated with the absence of Rosenthal fibers and eosinophilic granular bodies. The clinical course is usually aggressive." "" + "subependymal giant cell astrocytoma" "A benign, slowly growing tumor (WHO grade I) typically arising in the wall of the lateral ventricles and composed of large ganglioid astrocytes. It is the most common CNS neoplasm in patients with tuberous sclerosis complex and typically occurs during the first two decades of life. (WHO)" "" + "obsolete Pituicytoma" "" "true" + "oligodendroglial tumor" "Oligodendrogliomas are cerebral tumors that are differentiated from other gliomas on the basis of their unique genetic characteristics and better response to chemotherapy. These tumors are classified according to their grade (low grade oligodendrogliomas: grade II of the WHO classification and anaplastic oligodendrogliomas: grade III of the WHO classification) and according to their pure or mixed histology (oligoastrocytomas)." "" + "tumor grade 2, general grading system" "A morphologic qualifier indicating that a cancerous lesion is moderately differentiated." "" + "anaplastic oligodendroglioma" "A WHO grade III oligodendroglioma with focal or diffuse malignant morphologic features (prominent nuclear pleomorphism, mitoses, and increased cellularity)." "" + "grade III glioma" "A group of malignant gliomas that includes anaplastic astrocytoma, anaplastic oligodendroglioma, anaplastic oligoastrocytoma, and anaplastic ependymoma." "" + "myxopapillary ependymoma" "Myxopapillary ependymoma (MEPN) describes a slow growing ependymoma located almost exclusively in the conus medullaris-cauda equina-filum terminale region of the spinal cord, presenting in all age groups, and manifesting with variable symptoms such as neck pain, vomiting and unsteady gait and metastasis. It has a more aggressive disease course and is seen in the pediatric population." "" + "oligoastrocytic tumor" "" + "oligoastrocytoma" "A WHO grade II tumor composed of a conspicuous mixture of two distinct neoplastic cell types morphologically resembling the tumor cells in oligodendroglioma and diffuse astrocytoma. (WHO)" "" + "anaplastic oligoastrocytoma" "An oligoastrocytoma characterized by the presence of increased cellularity, nuclear atypia, pleomorphism, and high mitotic activity." "" + "glial tumor of neuroepithelial tissue with unknown origin" "True" + "angiocentric glioma" "Angiocentric glioma (AG) is an extremely rare slow-growing glial neoplasm of the central nervous system, usually arising in a superficial location in the cerebrum, affecting all ages and both sexes, and characterized by intractable seizures and headaches, with most cases being cured by surgical incision alone and therefore having a good prognosis." "" + "astroblastoma" "Astroblastoma is a very rare glial neoplasm of the central nervous system, most often with an intra-axial peripheral supratentorial location in one hemisphere of the frontal or parietal lobes and usually presenting in infants and young adults with symptoms of vomiting, loss of consciousness, epileptic seizures and headaches." "" + "neuroepithelial neoplasm" "A neoplasm of the nervous system that arises from the neuroepithelial tissues. Representative examples include astrocytic tumors, oligodendroglial tumors, ependymal tumors, and primitive neuroectodermal tumors." "" + "anaplastic/large cell medulloblastoma" "A medulloblastoma composed of sheets of large cells mixed with cells characterized by marked nuclear pleomorphism and high mitotic activity." "" + "medulloblastoma with extensive nodularity" "Medulloblastoma with extensive nodularity (MBEN) is a histological variant of medulloblastoma, an embryonic malignancy, most often located in the inferior medullary velum and then growing into the fourth ventricle, and presenting in infants and young children with symptoms of increased intracranial pressure such as headache, listlessness, vomiting, diplopia and papilledema. It is often associated with Gorlin syndrome and has a relatively good prognosis." "" + "desmoplastic/nodular medulloblastoma" "A histological variant of medulloblastoma, an embryonic malignancy, often located in one of the cerebellar hemispheres, occurring most frequently in adults and manifesting with symptoms such as vomiting and headache." "" + "classic medulloblastoma" "Classic medulloblastoma is a histological variant of medulloblastoma, an embryonic malignancy, having a midline location, occurring most often in children and manifesting with variable symptoms such as headaches, nausea, vomiting and ataxia." "" + "obsolete ganglioneuroblastoma" "" "true" + "obsolete medulloepithelioma of the central nervous system" "" "true" + "microcephaly-seizures-intellectual disability-heart disease syndrome" "Microcephaly-seizures-intellectual disability-heart disease syndrome is characterised by intellectual deficit, a cardiac anomaly, micropenis, hypothyroidism, epileptic seizures, and skeletal anomalies. It has been described in two males." "" + "obsolete atypical papilloma of choroid plexus" "" "true" + "pineal tumor of neuroepithelial tissue" "" + "pineocytoma" "Pineocytoma is the least aggressive form of pineal parenchymal tumors, manifesting with symptoms such as Parinaud's syndrome (a group of eye movement abnormalities and pupil dysfunction, including deficiency in upward-gaze and convergence-retraction nystagmus), headaches, balance impairment, urinary incontinence, and changes in mood and that are not known to disseminate in a diffuse manner. They are usually associated with a good prognosis." "" + "papillary tumor of the pineal region" "Papillary tumor of the pineal region (PTPR) is a very rare neoplasm of the pineal region that is thought to arise from the specialized ependymocytes of the subcommissural organ and that manifests with visual disturbances, headaches, loss of coordination and balance, nausea and vomiting due to obstructive hydrocephalus." "" + "pineal parenchymal tumor of intermediate differenciation" "Pineal parenchymal tumor of intermediate differentiation (PPTID) describes a rare type of pineal parenchymal tumor (PPT) of intermediate-grade malignancy manifesting with visual disturbances, headaches, loss of coordination and balance, nausea and vomiting due to obstructive hydrocephalus, and that is classified as either grade II PPTID or grade III PPTID according to the degree of neuronal differentiation and mitotic activity." "" + "extraventricular neurocytoma" "Extraventricular neurocytoma (EVN), a variant of central neurocytoma, is a rare neuronal neoplasm, composed of round cells with neuronal differentiation, which is located outside of the ventricular system, usually within the spinal cord or cerebral hemispheres and that manifests with headache, nausea, vomiting, complex partial seizures or focal neurological deficits. In some cases it may exhibit atypical features consistent with aggressive clinical behavior." "" + "obsolete cerebellar liponeurocytoma" "" "true" + "gangliocytoma" "A well differentiated, slow growing neuroepithelial neoplasm composed of neoplastic, mature ganglion cells." "" + "desmoplastic infantile astrocytoma/ganglioglioma" "Desmoplastic infantile astrocytoma/ganglioglioma are mixed neuronal-glial tumors representing a histological spectrum of the same tumor. They are usually supratentorially located, large, cystic masses with a peripheral solid component, characterized by prominent desmoplastic stroma and pleomorphic populations of neoplastic cells with either astrocytic or ganglionic differentiation and poorly differentiated cells in variable proportions. They usually present in the first 18 months of age with rapid head growth, bulging anterior fontanel and bone structures over the tumor, signs of raised intracranial pressure (headache, vomiting, papilledema), focal neurological signs and sometimes seizures." "" + "obsolete dysembryoplastic neuroepithelial tumor" "" "true" + "anaplastic ganglioglioma" "A WHO grade III neuroepithelial neoplasm composed of neoplastic, mature ganglion cells and anaplastic glial cells. The anaplastic changes in the glial component and high MIB-1 and TP53 labeling indices may indicate aggressive behavior. However, the correlation of histological anaplasia with clinical outcome is inconsistent. (Adapted from WHO)" "" + "papillary glioneuronal tumor" "A WHO grade I, indolent and relatively circumscribed brain tumor. Morphologically it is characterized by the presence of astrocytes that line vascular and hyalinized pseudopapillae. In between the pseudopapillae aggregates of neurocytes, large neurons, and ganglioid cells are present." "" + "rosette-forming glioneuronal tumor of fourth ventricule" "A central nervous system neoplasm mostly occurring in the fourth ventricle region. It is characterized by the presence of neurocytes forming pseudorosettes and astrocytes which contain Rosenthal fibers. Cytologic atypia is minimal." "" + "obsolete ganglioneuroma" "" "true" + "obsolete teratoma of the central nervous system" "" "true" + "primary melanocytic tumor of central nervous system" "" + "diffuse leptomeningeal melanocytosis" "Diffuse leptomeningeal melanocytosis is a rare tumor of meninges arising from leptomeningeal melanocytes, characterized by diffuse infiltration of the leptomeninges (pia mater and arachnoidea) anywhere in the central nervous system. Clinical features may include stillbirth, intracranial hypertension and hydrocephalus, seizure, ataxia, syringomyelia, cranial nerve palsy, intracranial haemorrhage, sphincter dysfunction and neuropsychiatric symptoms. Transformation into malignant melanoma of the central nervous system was reported. It may be associated with congenital nevi, as a part of neurocutaneous melanosis." "" + "meningeal melanocytoma" "A usually well differentiated melanocytic neoplasm arising from the meninges. It is characterized by the presence of epithelioid, fusiform, polyhedral, and spindle melanocytes without evidence of hemorrhage, necrosis, or high mitotic activity. Presenting symptoms include headache, vomiting, and neurological manifestations. Complete excision is usually curative." "" + "microcephaly-cleft palate syndrome" "Microcephaly-cleft palate-abnormal retinal pigmentation syndrome is a rare orofacial clefting syndrome characterized by microcephaly, cleft of the secondary palate and other variable abnormalities, including abnormal retinal pigmentation, facial dysmorphism with hypotelorism and maxillary hypoplasia. Goiter, camptodactyly, abnormal dermatoglyphics and mild intellectual disability may also be associated. There have been no further descriptions in the literature since 1983." "" + "malignant perineurioma" "A very rare malignant tumor with morphologic features similar to those of benign perineurioma of soft tissue along with hypercellularity, nuclear atypia, hyperchromasia, and a high mitotic rate." "" + "obsolete benign schwannoma" "" "true" + "vestibular schwannoma" "Vestibular schwannoma is a rare tumor of the posterior fossa originating in the Schwann cells of the vestibular transitional zone of the vestibulocochlear nerve that can be benign, small, slow growing and asymptomatic or large, faster growing and aggressive and potentially fatal, presenting with symptoms of hearing and balance impairment, vertigo, ataxia, headache and fifth, sixth or seventh cranial nerve dysfunction and facial numbness." "True" + "malignant triton tumor" "Malignant triton tumor (MTT) is a rare aggressive subtype of malignant peripheral nerve sheath tumor (MPNST) characterized histopathologically by focal rhabdomyoblastic differentiation." "" + "microcephaly-brain defect-spasticity-hypernatremia syndrome" "Microcephaly-brain defect-spasticity-hypernatremia syndrome is a rare congenital genetic syndrome with a central nervous system malformation as a major feature characterized by microcephaly, hypertonia, developmental delay and cognitive impairment, swallowing difficulty, hypernatremia, and hypoplasia of the frontal parts and fusion of the lateral ventricles on brain MRI. Only one familial case with three affected siblings reported and there have been no further descriptions in the literature since 1986." "" + "microcephaly-microcornea syndrome, Seemanova type" "Microcephaly-microcornea syndrome, Seemanova type is characterised by microcephaly and brachycephaly, eye anomalies (microphthalmia, microcornea, congenital cataract), hypogenitalism, severe intellectual deficit, growth retardation and progressive spasticity. It has been described in two patients (a male and his sister's son). Both patients also presented with facial dysmorphism, including upslanting palpebral fissures, epicanthal folds, highly arched palate, microstomia, and retrognathia. This syndrome is transmitted as an X-linked trait." "" + "microcornea-corectopia-macular hypoplasia syndrome" "Microcornea-corectopia-macular hypoplasia syndrome is characterised by microcornea, which may also be accompanied by corectopia and macular hypoplasia. It has been described in three individuals from two successive generations of one family." "" + "19p13.12 microdeletion syndrome" "19p13.12 microdeletion syndrome is a newly described syndrome characterized by moderate to severe developmental delay, language delay, bilateral sensorineural and/or conductive hearing loss and facial dysmorphism." "" + "obsolete rare lichen planus" "Lichen planus (LP) is a common inflammatory dermatosis characterized by the development of pruritic violaceous papules or plaques on mucocutaneous surfaces. Eruptions can involve the face, neck, limbs, back, genitalia, tongue, buccal mucosa, nails, and scalp. LP comprises rare variants affecting the skin and the mucosa. Rare cutaneous LP includes linear LP (referring to blaschkoid and zosteriform distributions of lichenoid lesions), actinic LP, annular LP, atrophic LP, annular atrophic LP, lichen planopilaris (comprising Graham Little-Piccardi-Lassueur syndrome and frontal fibrosing alopecia), lichen planus pigmentosus, and lichen planus pemphigoides. Rare mucosal LP includes vulvovaginal gingival syndrome and LP sialadenitis." "True" "true" + "obsolete cutaneous lichen planus" "" "true" + "obsolete rare mucosal lichen planus" "True" "true" + "linear lichen planus" "Linear lichen planus (LLP), also referred to as Blaschkoid LP, is a rare type of lichen planus characterized by a linear distribution of lichenoid lesions along the lines of Blaschko, which are embryonic pathways of skin development." "" + "actinic lichen planus" "Actinic lichen planus (LP) is a rare variant of cutaneous lichen planus characterized by the development of photo-distributed lichenoid lesions." "" + "annular atrophic lichen planus" "Annular atrophic lichen planus (LP) is a rare variant of cutaneous lichen planus characterized by both annular and atrophic LP features in the same lesion." "" + "annular lichen planus" "Annular lichen planus (LP) is a rare variant of cutaneous lichen planus characterized by the development of annular lesions." "" + "atrophic lichen planus" "Atrophic lichen planus (LP) is a rare variant of cutaneous lichen planus characterized by the development of pale papules or plaques with an atrophic center." "" + "lichen planus pigmentosus" "Lichen planus (LP) pigmentosus is a rare variant of cutaneous lichen planus characterized by the presence of hyperpigmented lichenoid lesions in sun-exposed or flexural areas of the body." "" + "lichen planus pemphigoides" "Lichen planus (LP) pemphigoides is a rare cross-over syndrome between lichen planus and bullous pemphigoid." "" + "frontal fibrosing alopecia" "Frontal fibrosing alopecia (FFA) is a rare variant of lichen planopilaris characterized by symmetrical, progressive, band-like anterior hair loss of the scalp." "" + "inhalational botulism" "Inhalational botulism is a man-made form of botulism, a rare acquired neuromuscular junction disease with descending flaccid paralysis caused by botulinum neurotoxins (BoNTs)." "" + "iatrogenic botulism" "Iatrogenic botulism is the most recent man-made form of botulism, a rare acquired neuromuscular junction disease with descending flaccid paralysis caused by botulinum neurotoxins (BoNTs), and it may occur as an adverse event after therapeutic or cosmetic use." "" + "paternal 14q32.2 microdeletion syndrome" "" + "maternal 14q32.2 microdeletion syndrome" "" + "paternal 14q32.2 hypomethylation syndrome" "" + "maternal 14q32.2 hypermethylation syndrome" "" + "partial hydatidiform mole" "Partial hydatiform mole is a type of hydatiform mole characterized by abnormal hyperplastic trophoblasts and hydropic villi due to fertilization of a normal ovocyte by two spermatozoa or one abnormal spermatozoon (allowing for some fetal development), and that manifests with vaginal bleeding accompanied by nausea and frequent vomiting, hyperemesis gravidarum, hyperthyroidism and risk of spontaneous miscarriage." "" + "epithelioid trophoblastic tumor" "An epithelioid trophoblastic tumor is an extremely rare gestational trophoblastic tumor (GTT) which generally occurs several years after pregnancy." "" + "obsolete genetic hyperferritinemia without iron overload" "Genetic hyperferritinemia without iron overload is a rare biological anomaly defined as high serum ferritin levels without elevations of transferrin saturation, tissue or serum iron and characterized by an apparently asymptomatic clinical phenotype." "" "true" + "mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies" "True" + "mitochondrial oxidative phosphorylation disorder due to a duplication of mitochondrial DNA" "True" + "mitochondrial membrane transport disorder" "" + "obsolete exercise intolerance with lactic acidosis" "" "true" + "maternally-inherited mitochondrial dystonia" "Maternally-inherited mitochondrial dystonia is a rare neurological mitochondrial DNA-related disorder characterized clinically by progressive pediatric-onset dystonia with variable degrees of severity." "" + "pure mitochondrial myopathy" "Pure mitochondrial myopathy is a rare mitochondrial disease characterized by exclusive skeletal muscle involvement, without clinical evidence of other organ involvement, manifesting with progressive limb weakness, proximal limb muscle atrophy, and eye muscle anomalies (e.g. ocular motility restriction, ptosis). Patients may present with lactic acidosis, diffuse myalgia and overall fatigability (particularly during/after physical activities), dysphagia, and diminished deep tendon reflexes." "" + "spinocerebellar ataxia with epilepsy" "" + "renal tubulopathy-encephalopathy-liver failure syndrome" "Renal tubulopathy - encephalopathy - liver failure describes a spectrum of phenotypes with manifestations similar but milder than those seen in Gracile syndrome and that can be associated with encephalopathy and psychiatric disorders." "" + "obsolete microsporidiosis" "" "true" + "maternally-inherited Leigh syndrome" "Maternally inherited Leigh syndrome is a rare subtype of Leigh syndrome characterized clinically by encephalopathy, lactic acidosis, seizures, cardiomyopathy, respiratory disorders and developmental delay, with onset in infancy or early childhood, and resulting from maternally-inherited mutations in mitochondrial DNA." "" + "Mikati-Najjar-Sahli syndrome" "Mikati-Najjar-Sahli syndrome is characterized by microcephaly, hypergonadotropic hypogonadism, short stature and facial dysmorphism (a narrow forehead, hypertrophy and fusion of the eyebrows, micrognathia and pinnae abnormalities)." "" + "Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome" "This syndrome is characterized by the association of MC6bius syndrome (congenital facial palsy with impaired ocular abduction) with peripheral axonal neuropathy and hypogonadotropic hypogonadism." "" + "Moyomoya angiopathy" "" + "shoulder and girdle defects-familial intellectual disability syndrome" "" + "myalgia-eosinophilia syndrome associated with tryptophan" "A rare systemic disease characterized by severe myalgia and peripheral eosinophilia associated with tryptophan dietary supplementation. The symptoms do not subside after tryptophan discontinuation. Clinical presentation includes muscle tenderness and cramps, fatigue, weakness, paresthesia, peripheral edema, arthralgia, dyspnea, skin rash, dry mouth, and development of scleroderma-like skin abnormalities." "" + "mycetoma" "Mycetomas are subcutaneous inflammatory pseudotumors containing fungal or actinomycetic (bacteria with branched filaments) granules or grains." "" + "mitochondrial myopathy-lactic acidosis-deafness syndrome" "Mitochondrial myopathy-lactic acidosis-deafness is a type of metabolic myopathy described only in two sisters to date, presenting during childhood, and characterized clinically by growth failure, severe muscle weakness, and moderate sensorineural deafness and biochemically by metabolic acidosis, elevated serum pyruvate concentration, hyperalaninemia and hyperalaninuria. There have been no further descriptions in the literature since 1973." "" + "myopathy-growth delay-intellectual disability-hypospadias syndrome" "" + "familial visceral myopathy" "A rare hereditary myopathic degeneration of both gastrointestinal and urinary tracts that causes chronic intestinal pseudo-obstruction. It usually presents after the first decade of life with megaduodenum, megacystis and symptoms such as abdominal distension and/or pain, vomiting, constipation, diarrhea, dysphagia, and/or urinary tract infections.n." "" + "visceral myopathy" "" + "linear verrucous nevus syndrome" "" + "distal 7q11.23 microduplication syndrome" "Distal 7q11.23 microduplication syndrome is a rare chromosomal anomaly characterized by a predominantly neuropsychiatric phenotype with a few dysmorphic characteristics. Speech delay, learning difficulties, attention deficit hyperactivity disorder, bipolar disorder and aggressiveness have been reported." "" + "14q12 microdeletion syndrome" "14q12 microdeletion syndrome is a recently described syndrome characterized by severe intellectual deficit, with a normal neonatal period, followed by a phase of regression at the age of 3-6 months." "" + "16p11.2p12.2 microduplication syndrome" "16p11.2p12.2 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial duplication of the short arm of chromosome 16 with a highly variable phenotype typically characterized by developmental/psychomotor delay (particularly of speech), intellectual disability, autism spectrum disorder and/or obsessive and repetitive behaviour, behavioural problems (such as aggression and outbursts), dysmorphic facial features (triangular face, deep set eyes, broad and prominent nasal bridge, upslanting or narrow palpebral features, hypertelorism). Additionally, finger/hand anomalies, short stature, microcephaly and slender build are frequently described." "" + "14q11.2 microduplication syndrome" "14q11.2 microduplication syndrome is a rare chromosomal anomaly characterized by developmental delay, mild to severe intellectual disability with speech impairment and epilepsy. Additionally, it may include dysmorphic features (such as hypo- or hypertelorism, dysplastic ears, short palpebral fissures), microcephaly or macrocephaly, behavioral abnormalities, stereotyped hand movements, ataxia, hypotonia, cleft palate." "" + "16p13.11 microdeletion syndrome" "16p13.11 microdeletion syndrome is a recently described syndrome characterized by developmental delay, microcephaly, epilepsy, short stature, facial dysmorphism and behavioral problems." "" + "16p13.11 microduplication syndrome" "16p13.11 microduplication syndrome is a recently described syndrome associated with variable clinical features including behavioral abnormalities, developmental delay, congenital heart defects and skeletal anomalies." "" + "16q24.3 microdeletion syndrome" "16q24.3 microdeletion syndrome is a recently described syndrome associated with variable developmental delay, facial dysmorphism, seizures and autistic spectrum disorder." "" + "distal 17p13.3 microdeletion syndrome" "Distal 17p13.3 microdeletion syndrome is a rare partial monosomy of the short arm of chromosome 17 with a variable phenotype characterized by prenatal and postnatal growth retardation, developmental delay, mild intellectual disability, macrocephaly, mild facial dysmorphisms including prominent forehead, hypertelorism, thick upper and/or lower lip vermillion, and structural abnormalities of the brain variably including white matter abnormalities, prominent Virchow-Robin spaces, Chiari I malformation, corpus callosum hypoplasia, but no lissencephaly." "" + "trisomy 17p" "Trisomy 17p is a rare chromosomal abnormality resulting from the duplication of the short arm of chromosome 17 and characterized by pre- and post-natal growth retardation, developmental delay, hypotonia, digital abnormalities, congenital heart defects, and distinctive facial features." "" + "20p12.3 microdeletion syndrome" "20p12.3 microdeletion syndrome is a recently described syndrome characterized by Wolff-Parkinson-White syndrome, variable developmental delay and facial dysmorphism." "" + "partial monosomy of the short arm of chromosome 20" "" + "paternal 20q13.2q13.3 microdeletion syndrome" "Paternal 20q13.2q13.3 microdeletion syndrome is a recently described syndrome characterized by severe pre- and post-natal growth retardation, microcephaly, intractable feeding difficulties, mild psychomotor retardation, hypotonia and facial dysmorphism." "" + "partial deletion of the long arm of chromosome 20" "" + "20q13.33 microdeletion syndrome" "20q13.33 is a rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 20 with a highly variable phenotype typically characterized by hypotonia, intellectual disability, cognitive and language deficits (including decreased or absent speech), pre and post-natal growth retardation, feeding difficulties, microcephaly, and malformed hands and feet. Neurodevelopmental disorders (including hyperactivity, social interactive problems and autism spectrum disorder), seizures and dysmorphic facial features (high forehead, hypertelorism, malformed ears, broad nasal bridge, bulbous nasal tip, thin upper lip, small chin) are frequently associated." "" + "trisomy 20p" "Trisomy 20p is a chromosomal disorder resulting from duplication of all or part of the short arm of chromosome 20. It is mostly characterized by normal growth, mild to moderate intellectual disability, speech delay, poor coordination and evocative facial features." "" + "partial trisomy of chromosome 20" "" + "21q22.11q22.12 microdeletion syndrome" "" + "partial deletion of the long arm of chromosome 21" "" + "distal 22q11.2 microduplication syndrome" "Distal 22q11.2 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 22, with a highly variable phenotype principally characterized by developmental delay, intellectual disability, hypotonia, growth retardation, velopharyngeal insufficiency, mild craniofacial dysmorphism (microcephaly, tall/broad forehead, small downslating palpebral fissures, hooded eyelids, flat nasal bridge, low posterior hairline) and digital anomalies. Congenital heart malformations, visual and hearing impairment, urogenital abnormalities, behavourial problems and seizures have also been reported." "" + "trisomy 1q" "Trisomy 1q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 1, with a highly variable phenotype principally characterized by intellectual disability, short stature, craniofacial dysmorphism (incl. macro/microcephaly, prominent forehead, posteriorly rotated, low-set ears, abnormal palpebral fissures, microphthalmia, broad, flat nasal bridge, high-arched palate, micro/retrognathia), cardiac defects and urogenital anomalies. Patients may also present cerebral (e.g. ventriculomegaly) and gastrointestinal malformations, as well as dystonic tremor and recurrent respiratory tract infections." "" + "juvenile temporal arteritis" "Juvenile temporal arteritis is a rare form of vasculitis, a group of conditions that cause inflammation of the blood vessels. Unlike the classic form of temporal arteritis, this condition is generally diagnosed in late childhood or early adulthood and only affects the temporal arteries (located at the lower sides of the skull, directly underneath the temple). Affected people often have no signs or symptoms aside from a painless nodule or lump in the temporal region. The exact underlying cause of the condition is unknown. It generally occurs sporadically in people with no family history of the condition. Juvenile temporal arteritis is often treated with surgical excision and rarely recurs." "" + "obsolete Nakajo-Nishimura syndrome" "" "true" + "atypical Norrie disease due to monosomy Xp11.3" "Atypical Norrie disease due to monosomy Xp11.3 is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the short arm of chromosome X, principally characterized by classical Norrie disease (bilateral, severe retinal malformations and opacity of the lens leading to congenital blindness, on occasion associated with progressive sensorineural deafness and intellectual disability), microcephaly, hypotonia, psychomotor and growth delay, moderate to severe mental handicap and disruptive behaviour. Clinical phenotype is highly variable and immunodeficiency, epilepsy and hypogonadism have also been reported." "" + "maternal uniparental disomy of chromosome X" "" + "uniparental disomy of chromosome X" "True" + "paternal uniparental disomy of chromosome X" "" + "ring chromosome Y" "Ring chromosome Y is a rare chromosome Y structural anomaly, with a highly variable phenotype, mostly characterized by short stature, partial to total gonadal failure, sexual infantilism, genital anomalies (e.g. ambiguous genitalia, hypospadias, cryptorchidism), and azoospermia or oligozoospermia. Additional reported features include speech delay, obesity, and acanthosis nigricans. Gender dysphoria and comorbid bipolar disorder have also been observed." "" + "49,XXXYY syndrome" "49, XXXYY syndrome is a chromosome abnormality that occurs when a male inherits two extra copies of the X chromosome and one extra copy of the Y chromosome. The condition is extremely rare with only a handful of cases reported in the medical literature. Signs and symptoms associated with these cases include severe intellectual disability, distinctive facial features, normal to tall stature, gynecomastia, hypogonadism, and behavioral abnormalities. 49, XXXYY syndrome is likely caused by a mistake (called nondisjunction) that occurs at conception or during the formation of the sperm and/or egg. Treatment is based on the signs and symptoms present in each person." "" + "Mowat-Wilson syndrome due to monosomy 2q22" "" + "Mowat-Wilson syndrome due to a ZEB2 point mutation" "" + "blepharophimosis-epicanthus inversus-ptosis due to 3q23 rearrangement syndrome" "Blepharophimosis - epicanthus inversus - ptosis (BPES) due to 3q23 microdeletion is a form of BPES, which in addition to the classical eyelids features of BPES, present genitourinary anomalies, spastic diplegia and speech delay." "" + "blepharophimosis-epicanthus inversus-ptosis due to a point mutation syndrome" "Blepharophimosis-epicanthus inversus-ptosis (BPES) due to a point mutation is a form of BPES, characterized by the classical eyelid malformation (blepharophimosis, ptosis, epicanthus inversus, and telecanthus) which may be accompanied by growth retardation and primary ovary failure." "" + "blepharophimosis-epicanthus inversus-ptosis due to copy number variations" "Blepharophimosis - epicanthus inversus - ptosis (BPES) due to polyA expansion is a form of BPES, characterized by the classical eyelid malformation (blepharophimosis, ptosis, epicanthus inversus, and telecanthus) which may be associated with a mild ovarian involvement." "" + "familial adenomatous polyposis due to 5q22.2 microdeletion" "" + "Alagille syndrome due to 20p12 microdeletion" "" + "Alagille syndrome due to a JAG1 point mutation" "" + "Okihiro syndrome due to 20q13 microdeletion" "" + "Okihiro syndrome due to a point mutation" "" + "Kleefstra syndrome due to a point mutation" "" + "partial deletion of chromosome 1" "" + "partial autosomal monosomy" "True" + "partial deletion of chromosome 2" "" + "partial deletion of chromosome 3" "" + "partial deletion of chromosome 4" "" + "partial deletion of chromosome 5" "" + "partial deletion of chromosome 6" "" + "partial deletion of chromosome 7" "" + "partial deletion of chromosome 8" "" + "chromosome 9 disorder" "Chromosomal disorder in which chromosome 9 is affected." "" + "partial deletion of chromosome 10" "" + "partial deletion of chromosome 11" "" + "partial deletion of the long arm of chromosome 12" "" + "partial deletion of chromosome 12" "" + "partial deletion of chromosome 16" "" + "partial deletion of chromosome 17" "" + "partial deletion of chromosome 19" "" + "partial deletion of chromosome 20" "" + "obsolete partial deletion of the short arm of chromosome 4" "" "true" + "partial deletion of the short arm of chromosome 7" "Chromosome 7p deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the short arm (p) of chromosome 7. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 7p deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person." "" + "obsolete partial deletion of the short arm of chromosome 9" "" "true" + "obsolete partial monosomy of the short arm of chromosome 17" "" "true" + "obsolete partial deletion of the short arm of chromosome 18" "" "true" + "obsolete partial deletion of the long arm of chromosome 1" "" "true" + "obsolete partial deletion of the long arm of chromosome 18" "" "true" + "obsolete partial deletion of the long arm of chromosome 22" "" "true" + "partial duplication of chromosome 1" "" + "partial autosomal trisomy/tetrasomy" "" + "partial duplication of chromosome 2" "" + "partial duplication of chromosome 3" "" + "partial duplication of chromosome 4" "" + "partial trisomy/tetrasomy of chromosome 5" "" + "obsolete Geleophysic dysplasia" "" "true" + "partial duplication of chromosome 6" "" + "partial duplication of chromosome 7" "" + "partial duplication of chromosome 8" "" + "partial trisomy/tetrasomy of chromosome 9" "" + "partial duplication of chromosome 10" "" + "partial duplication of chromosome 11" "" + "partial duplication of chromosome 12" "" + "partial duplication of chromosome 16" "" + "partial duplication of chromosome 17" "" + "partial trisomy/tetrasomy of chromosome 18" "A chromosomal disorder characterized by the presence of extra copy/copies of part of chromosome 18." "" + "partial duplication of chromosome 19" "" + "partial duplication of the short arm of chromosome 2" "Chromosome 2p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 2. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 2p duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Most cases are not inherited, but people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person." "" + "partial duplication of the short arm of chromosome 3" "Chromosome 3p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 3. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 3p duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Chromosome 3p duplication can be de novo or inherited from a parent with a balanced translocation. Treatment is based on the signs and symptoms present in each person." "" + "partial duplication of the long arm of chromosome 6" "Chromosome 6q duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the long arm (q) of chromosome 6. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 6q duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. In most cases, chromosome 6q duplication occurs de novo or is inherited from a parent with a chromosomal rearrangement such as a balanced translocation. Rarely, it is inherited from a parent with the same duplication. Treatment is based on the signs and symptoms present in each person." "" + "partial trisomy of the long arm of chromosome 9" "" + "partial duplication of the long arm of chromosome 11" "True" + "partial trisomy of the long arm of chromosome 16" "" + "partial trisomy of the long arm of chromosome 20" "" + "obsolete thymoma type A" "" "true" + "well-differentiated thymic neuroendocrine carcinoma" "" + "moderately-differentiated thymic neuroendocrine carcinoma" "" + "poorly differentiated thymic neuroendocrine carcinoma" "" + "MRCS syndrome" "MRCS syndrome is a rare, genetic retinal dystrophy disorder characterized by bilateral microcornea, rod-cone dystrophy, cataracts and posterior staphyloma, in the absence of other systemic features. Night blindness is typically the presenting manifestation and nystagmus, strabismus, astigmatism and angle closure glaucoma may be associated findings. Progressive visual acuity deterioration, due to pulverulent-like cataracts, results in poor vision ranging from no light perception to 20/400." "" + "infantile spams-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome" "" + "Bartter syndrome with hypocalcemia" "Bartter syndrome with hypocalcemia is a type of Bartter syndrome characterized by hypocalcemia, hypomagnesemia and hypoparathyroidism along with features of Henle's loop dysfunction (polyuria, hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II). Bartter syndrome with hypocalcemia is a very rare manifestation of autosomal dominant hypocalcemia (ADH)" "" + "nevus of Ota" "Nevus of Ota is an oculodermal melanocytosis more commonly found in Asian and African populations, usually present at birth and characterized by a usually unilateral, bluish gray, patchy, speckled pigmentation (that may progressively enlarge and darken) affecting the skin of the face along the distribution of the ophthalmic and maxillary divisions of the trigeminal nerve (periorbital region, temple, forehead, malar area, nose). In 2/3 cases the ipsilateral sclera is affected. Nevus of Ota usually remains stable once adulthood is reached but an increased risk of glaucoma and uveal melanoma may be observed. Extracutaneous lesions may also occur in cornea, retina, tympanum, nasal mucosa, pharynx, palate. Nevus of Ota occurs as solitary conditions but seldom may occur together with the nevus of Ito or nevus spilus." "" + "nevus of Ito" "Nevus of Ito is a benign dermal melanocytosis occurring most frequently in the Asian populations and characterized by unilateral, asymptomatic, blue, gray or brown skin pigmentation within the acromioclavicular and upper chest area (involving the side of the neck, the supraclavicular and scapular areas, and the shoulder region). It is usually diagnosed in early infancy and in early adolescence. Nevus of Ito may progressively enlarge and darken in color (particularly with puberty) and its appearance usually remains stable once adulthood is reached. Spontaneous regression does not occur. Malignant melanoma has rarely been reported within a nevus of Ito. It shares the clinical features of nevus of Ota, except its anatomic location and may in rare occasions occur together with the latter." "" + "congenital smooth muscle hamartoma" "Congenital smooth muscle hamartoma (CSMH) is a rare cutaneous hamartomatous lesion most often located on the lumbosacral area or proximal limbs (but rarely on atypical areas such as scalp, eyelid or foot) and characterized by a disorganized proliferation of smooth muscle fibres of arrector pili presenting usually as a localized skin-colored or hyperpigmented plaque (up to 10 cm in diameter) with prominent vellus hairs (most common classic form) or less commonly by multiple skin-colored papules that can coalesce to form irregularly shaped plaques. With time, hyperpigmentation and vellus hairs usually diminish and neither malignant transformation nor associated systemic involvement has been reported." "" + "hyperinsulinism due to HNF4A deficiency" "Hyperinsulinism due to HNF4A deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI), characterized by macrosomia, transient or persistent hyperinsulinemic hypoglycemia (HH), responsiveness to diazoxide and a propensity to develop maturity-onset diabetes of the young subtype 1 (MODY-1)." "" + "Fuchs heterochromic iridocyclitis" "Fuchs heterochromic iridocyclitis (FHI) is an ocular disease of unknown etiology occurring in a very small percentage (0.5-6.2%) of uvietis cases, characterized by diffuse iris heterochromia or atrophy, keratic precipitates in the absence of synechiae, and in some cases evolving to glaucoma and vitreous opacities." "" + "acquired prothrombin deficiency" "An instance of prothrombin deficiency that is acquired during the lifetime of the individual." "" + "obsolete peeling skin syndrome type B" "" "true" + "generalized peeling skin syndrome type C" "" + "familial multiple meningioma" "Familial multiple meningioma is a rare, benign neoplasm of the central nervous system characterized by the development of multiple or, rarely, solitary meningiomas in two or more blood relatives, without other apparent syndromic manifestations. Depending on the localization, growth rate and size of the tumors, patients can present with subtle, gradually worsening or abrupt and severe neurological compromise or can be completely asymptomatic." "" + "NK-cell enteropathy" "Natural killer (NK)-cell enteropathy is a benign NK-cell lymphoproliferative disease characterized by minor abdominal symptoms (abdominal pain, diverticulosis, constipation and reflux) due to NK cell-derived lesions in the mucosal layer of the gastrointestinal tract and often mistaken for NK or T-cell lymphoma." "" + "obsolete hereditary epidermolysis bullosa associated with ocular features" "" "true" + "gonosome number anomaly" "True" + "obsolete X chromosome number anomaly with female phenotype" "" "true" + "obsolete X chromosome number anomaly with male phenotype" "" "true" + "partial deletion of chromosome X" "" + "chromosome X structural anomaly" "True" + "partial duplication of chromosome X" "" + "partial duplication of the short arm of chromosome 1" "" + "trisomy 8p" "Trisomy 8p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 8, with highly variable phenotype ranging from no dysmorphic features and only mild intellectual disability to patients with severe developmental delay, neonatal hypotonia, short stature, profound intellectual disability, mild dysmorphic features (e.g. mild ptosis, hypertelorism, down-slanting palpebral fissures, broad nasal bridge, short, prominent philtrum, abnormal dentition) and structural brain abnormalities. Autism, epilepsy, and spastic paraplegia have also been reported." "" + "interstitial lung disease specific to childhood" "A interstitial lung disease that occurs during childhood." "" + "primary interstitial lung disease specific to childhood due to alveolar structure disorder" "True" + "primary interstitial lung disease specific to childhood due to alveolar vascular disorder" "True" + "isolated pulmonary capillaritis" "Isolated pauciimmune pulmonary capillaritis is a small vessel vasculitis restricted to the lungs that may induce diffuse alveolar hemorrhage with dyspnea, anemia, chest pain, hemoptysis, bilateral and diffuse alveolar infiltrates at chest X-rays, without any underlying systemic disease. ANCA are frequently positive but could be negative." "" + "secondary interstitial lung disease specific to childhood associated with a systemic vasculitis" "True" + "secondary interstitial lung disease specific to childhood associated with a granulomatous disease" "True" + "interstitial lung disease specific to adulthood" "" + "Langerhans cell histiocytosis specific to adulthood" "Langerhans cell histiocytosis that occurs during adulthood." "" + "interstitial lung disease in childhood and adulthood" "" + "primary interstitial lung disease in childhood and adulthood due to alveolar vascular disorder" "True" + "secondary interstitial lung disease in childhood and adulthood" "" + "Langerhans cell histiocytosis in childhood and adulthood" "" + "secondary interstitial lung disease in childhood and adulthood associated with a metabolic disease" "True" + "secondary interstitial lung disease in childhood and adulthood associated with a systemic vasculitis" "True" + "drug or radiation exposure-related interstitial lung disease" "" + "exposure-related interstitial lung disease" "" + "osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome" "Osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome is characterized by severe dwarfism, progressive scoliosis and bilateral dislocation of the hip, associated with sensorineural deafness and retinitis pigmentosa. Radiographs show diffuse osteoporosis, severe bone-age delay and dysplasia of the femoral head. It has been described in two patients. Transmission is autosomal dominant variable penetrance." "" + "adult familial nephronophthisis-spastic quadriparesia syndrome" "This syndrome, associating familial adult medullary cystic disease with spastic quadriparesis has been described in two cases so far. Renal transplantation was successful in those two patients." "" + "neuroectodermal-endocrine syndrome" "Neuroectodermal-endocrine syndrome is characterised by a combination of endocrine and neuroectodermal abnormalities, including low growth hormone levels, delayed puberty, type II diabetes mellitus, mild intellectual deficit, sensorineural deafness, characteristic facial appearance and alopecia. It has been described in four sibs from Myanmar." "" + "neuroepithelioma" "Peripheral neuroepithelioma is a rare noncentral nervous system tumor with evidence of primitive neuroectodermal differentiation." "" + "infantile axonal neuropathy" "" + "pseudomyxoma peritonei" "Pseudomyxoma peritonei is characterized by disseminated intra-peritoneal mucinous tumors and mucinous ascites in the abdomen and pelvis." "" + "intraocular medulloepithelioma" "Intraocular medulloepithelioma is a rare eye tumor characterized by a white, gray or yellow-colored cystic mass that arises from the primitive neuroectodermal, nonpigmented epithelium of the ciliary body, or occasionally from the optic nerve, optic disc, retina or iris. Typically it has a benign clinical course with good prognosis and generally presents with childhood onset of poor vision and pain, glaucoma, and/or cataract. Leukocoria, exotropia, exophthalmos, strabismus, epiphora, change in eye color, hyphema, and raised intraocular pressure are also remarkable manifestations." "" + "classic maple syrup urine disease" "Classic maple syrup urine disease (classic MSUD) is the most severe and probably common form of MSUD characterized by a maple syrup odor in the cerumen at birth, poor feeding, lethargy and focal dystonia, followed by progressive encephalopathy and central respiratory failure if untreated." "" + "intermittent maple syrup urine disease" "Intermittent maple syrup urine disease (intermittent MSUD) is a mild form of MSUD where patients (when well) are asymptomatic with normal levels of branched-chain amino acids (BCAAs) but with catabolic stress are at risk of acute decompensation with ketoacidosis, which can lead to cerebral edema and coma if untreated." "" + "thiamine-responsive maple syrup urine disease" "Thiamine-responsive maple syrup urine disease (thiamine-responsive MSUD) is a less severe variant of MSUD that manifests with a phenotype similar to intermediate MSUD but that responds positively to treatment with thiamine." "" + "mycophenolate mofetil embryopathy" "Mycophenolate mofetil (MMF) embryopathy is a malformative syndrome due to the teratogenic effect of MMF, an effective immunosuppressive agent widely used for the prevention of organ rejection after organ transplantation." "" + "DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion" "" + "intermediate Charcot-Marie-Tooth disease" "" + "open iniencephaly" "" + "iniencephaly" "Iniencephaly is a rare form of neural tube defect in which a malformation of the cervico-occipital junction is associated with a malformation of the central nervous system." "" + "closed iniencephaly" "" + "spina bifida aperta" "" + "total spina bifida aperta" "" + "thoracolumbosacral spina bifida aperta" "" + "lumbosacral spina bifida aperta" "" + "cervical spina bifida aperta" "" + "cervicothoracic spina bifida aperta" "" + "upper thoracic spina bifida aperta" "" + "total spina bifida cystica" "" + "myelomeningocele" "Myelomeningocele is the most severe form of spina bifida. It happens when parts of the spinal cord and nerves come through the open part of the spine. It causes nerve damage and other disabilities. Seventy to ninety percent of children with this condition also have too much fluid on their brains (hydrocephalus). This happens because fluid that protects the brain and spinal cord is unable to drain like it should. The fluid builds up, causing pressure and swelling. Without treatment, a persons head grows too big, and theymay have brain damage. Other disorders of the spinal cord may be seen, including syringomyelia and hip dislocation. The cause of myelomeningocele is unknown. However, low levels of folic acid in a woman's body before and during early pregnancy is thought to play a part in this type of birth defect." "" + "thoracolumbosacral spina bifida cystica" "" + "lumbosacral spina bifida cystica" "" + "cervical spina bifida cystica" "" + "cervicothoracic spina bifida cystica" "" + "upper thoracic spina bifida cystica" "" + "posterior meningocele" "Posterior meningocele is a rare neural tube closure defect characterized by the herniation of a cerebrospinal fluid-filled sac, that is lined by dura and arachnoid mater, through a posterior spina bifida and covered by a layer of skin of variable thickness, which may be dysplastic or ulcerated. The spinal cord and nerves are generally not included and function normally, although sometimes a tethered cord may be associated. They are most commonly located in the lumbar or sacral region." "" + "myelocystocele" "" + "meningoencephalocele" "A congenital abnormality in which the meninges protrude through a defect in the cranium." "" + "occipital encephalocele" "" + "parietal encephalocele" "" + "basal encephalocele" "" + "obsolete lipoma associated with neurospinal dysraphism" "" "true" + "leptomyelolipoma" "Leptomyelolipoma is a rare neural tube closure defect characterized by an abnormally low lying conus which is tethered by a lumbosacral lipomatous mass (containing fatty tissue, nerve fibers, meningeal strands and fibrous bands) which engulfs the filum terminale and varying numbers of dorsal and ventral nerve root components, typically producing sensory, motor, bowel and/or bladder dysfunction. Cutaneous stigmata, absent or reduced reflexes and foot defomities (e.g. talipes cavovalgus) are frequently present." "" + "obsolete malformation of the neurenteric canal, spinal cord and column" "" "true" + "primary tethered cord syndrome" "Primary tethered cord syndrome is a genetic, non-syndromic congenital malformation of the neurenteric canal, spinal cord and column characterized by progressive neurologic deterioration (pain, sensorimotor deficits, abnormal gait, decreased tone or abnormal reflexes), musculoskeletal changes (foot deformities and asymmetry, muscle atrophy, limb weakness and numbness, gait disturbances, scoliosis) and/or genitourinary manifestations (bladder and bowel dysfunction). Midline cutaneous stigmata in the lumbosacral region, such as turfs of hair, skin appendages, dimples, subcutaneous lipomas, skin discoloration or hemangiomas, are frequently associated." "" + "neurenteric cyst" "" + "isolated amyelia" "" + "isolated megalencephaly" "A megalencephaly (disease) that is not part of a larger syndrome." "" + "unilateral focal polymicrogyria" "Unilateral focal polymicrogyria (BFPP) is the mildest sub-type of polymicrogyria (PMG), a cerebral cortical malformation characterized by excessive cortical folding and abnormal cortical layering, that affects only one small region of the brain and that may show no neurologic involvement." "" + "isolated focal cortical dysplasia type I" "" + "isolated focal cortical dysplasia type Ia" "" + "isolated focal cortical dysplasia type Ib" "" + "isolated focal cortical dysplasia type Ic" "" + "obsolete facioscapulohumeral dystrophy" "" "true" + "neutropenia-monocytopenia-deafness syndrome" "Neutropenia-monocytopenia-deafness syndrome is characterised by neutropenia with myeloid marrow hypoplasia, monocytopenia, and congenital deafness. It has been described in three siblings who suffered recurrent bacterial infections." "" + "isolated focal cortical dysplasia type IIa" "" + "isolated focal cortical dysplasia type IIb" "" + "glioependymal/ependymal cyst" "Glioependymal/ependymal cyst is a rare central nervous system malformation defined as a subarachnoid, supratentorial, interventricular or intraspinal, sometimes intracerebral or intramedullar cyst with an internal ependymal lining, possibly surrounded by glial tissue. It may be an incidental finding or may present at different ages with clinical features depending on its size and location. It may distort adjacent brain structures and cause macrocephaly, ventriculomegaly, hydrocephalus, focal neurological signs and other signs and symptoms. In some cases, it is associated with other cerebral malformations (e.g. corpus callosum agenesis, polymicrogyria, heterotopias)." "" + "retrocerebellar cyst" "" + "isolated cerebellar vermis agenesis" "" + "isolated total cerebellar vermis agenesis" "" + "isolated partial cerebellar vermis agenesis" "" + "isolated Dandy-Walker malformation with hydrocephalus" "" + "isolated Dandy-Walker malformation without hydrocephalus" "" + "isolated unilateral hemispheric cerebellar hypoplasia" "Isolated unilateral hemispheric cerebellar hypoplasia is a rare, non-syndromic cerebellar malformation characterized by loss of volume in the right or left cerebellar hemisphere, with intact vermis and no other neurological anomalies (i.e. normal cerebral hemispheres, fourth ventricle, pons, medulla and midbrain). Patients may be asymptomatic or may present developmental and speech delay, hypotonia, abnormal ocular movements, persistent headaches and/or peripheral vertigo and ataxia. Neurological examination is otherwise normal." "" + "malformation of the cerebellar hemispheres" "" + "isolated bilateral hemispheric cerebellar hypoplasia" "Isolated bilateral hemispheric cerebellar hypoplasia is a rare cerebellar malformation characterized by hypoplasia of both cerebellar hemispheres with no other cerebellar/cerebral anomaly or other associated clinical feature. Affected patients present with mild hypotonia with motor delay, mild cognitive impairment, language delay, visuospatial and verbal memory deficits, dysdiadochokinesis, intentional tremor, and possible presence of emotional fragility and mild depression." "" + "obsolete bifid nose" "" "true" + "congenital communicating hydrocephalus" "" + "congenital non-communicating hydrocephalus" "" + "obsolete other syndrome with a central nervous system malformation as major feature" "True" "true" + "obsolete genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature" "True" "true" + "noma" "Noma is a gangrenous disease that causes severe destruction of the soft and osseous tissues of the face." "" + "obsolete oculofaciocardiodental syndrome" "" "true" + "oculo-skeletal-renal syndrome" "" + "obsolete genetic systemic or rheumatologic disease" "" "true" + "odonto-onycho dysplasia-alopecia syndrome" "Odonto-onycho dysplasia-alopecia syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by almost total alopecia with only sparse, thin, brittle, slow-growing scalp hair, fair and sparse eyebrows and eyelashes, absent axillary and pubic hair, fragile and brittle fingernails, thick and brittle toenails (both with a subungual corneal layer), hypodontia, microdontia, widely spaced teeth with hypoplastic enamel, mild palmoplantar keratosis, cafe-au-lait spots and areolae anomalies. There have been no further descriptions in the literature since 1985." "" + "olivopontocerebellar atrophy-deafness syndrome" "Olivopontocerebellar atrophy-deafness syndrome is characterised by infancy-onset olivopontocerebellar atrophy, sensorineural deafness and speech impairment. It has been described in less than 15 children. Most cases were sporadic, but autosomal recessive inheritance was suggested in three cases." "" + "obsolete hemorrhagic disorder due to a constitutional thrombocytopenia" "" "true" + "obsolete hemorrhagic disorder due to a qualitative platelet defect" "True" "true" + "idiopathic pulmonary arterial hypertension" "Idiopathic pulmonary arterial hypertension (IPAH) is a sporadic form of pulmonary arterial hypertension (PAH) characterized by elevated pulmonary arterial resistance leading to right heart failure. IPAH is progressive and potentially fatal and not associated with an underlying condition or family history of PAH." "" + "drug- or toxin-induced pulmonary arterial hypertension" "Drug- or toxin-induced pulmonary arterial hypertension (PAH) is a form of pulmonary arterial hypertension (PAH) secondary to the exposition to drugs. Drug- or toxin-induced PAH is characterized by elevated pulmonary arterial resistance leading to right heart failure. Drug or toxin induced PAH is progressive and potentially fatal." "" + "pulmonary arterial hypertension associated with another disease" "Pulmonary arterial hypertension associated with another disease is a group of conditions that lead to PAH; connective tissue diseases (lupus erythematosus, systemic sclerosis and mixed connective tissues disease), congenital heart disease (Eisenmenger syndrome), HIV infection, portal hypertension, schistosomiasis and chronic hemolytic anemia, which is characterized by elevated pulmonary arterial resistance leading to right heart failure that is progressive and potentially fatal." "True" + "pulmonary arterial hypertension associated with connective tissue disease" "Pulmonary arterial hypertension (PAH) associated with connective tissue disease (PAH-CTD) is a form of pulmonary arterial hypertension (PAH) characterized by an elevated pulmonary arterial resistance leading to right heart failure observed as a complication of a connective tissue disease." "True" + "pulmonary arterial hypertension associated with congenital heart disease" "Pulmonary arterial hypertension associated with congenital heart disease (PAH-CHD) is a form of pulmonary arterial hypertension (PAH), characterized by elevated pulmonary arterial resistance leading to right heart failure occurring as a common complication of congenital heart malformations with left to right cardiac shunts. Eisenmenger syndrome is the most advanced form of PAH-CHD and is defined as the complete or partial reversal of an initial left-to-right shunt to a right-to-left shunt, causing cyanosis and limited exercise capacity. PAH-CHD also includes mild to moderate systemic-to-pulmonary shunts with no cyanosis at rest, patients with small defects, and those with residual PAH following corrective cardiac surgery." "True" + "pulmonary arterial hypertension associated with HIV infection" "Pulmonary arterial hypertension (PAH) associated with HIV infection (PAH-HIV) is a form of PAH characterized by elevated pulmonary arterial resistance leading to right heart failure observed as a complication of HIV infection." "True" + "pulmonary arterial hypertension associated with portal hypertension" "Pulmonary arterial hypertension associated with portal hypertension (PAH-PH) is a form of pulmonary arterial hypertension (PAH), characterized by an elevated pulmonary arterial resistance leading to right heart failure observed as a complication of portal hypertension." "True" + "pulmonary arterial hypertension associated with schistosomiasis" "Pulmonary arterial hypertension associated with schistosomiasis (PAHS) is a form of pulmonary arterial hypertension characterized by an elevated pulmonary arterial resistance leading to right heart failure, observed as a complication of a chronic schistosomiasis." "True" + "pulmonary arterial hypertension associated with chronic hemolytic anemia" "Pulmonary arterial hypertension associated with chronic hemolytic anemia (PAH-CHA) is a form of PAH characterized by an elevated pulmonary arterial resistance leading to right heart failure observed as a complication of chronic hemolytic anemia." "True" + "pulmonary hypertension owing to lung disease and/or hypoxia" "" + "pulmonary hypertension with unclear multifactorial mechanism" "True" + "obsolete syndrome with pulmonary hypertension as a major feature" "True" "true" + "frontotemporal degeneration with dementia" "True" + "imperforate oropharynx-costo vetebral anomalies syndrome" "Imperforate oropharynx-costovertebral anomalies syndrome is a dysostosis with predominant vertebral and costal involvement characterized by oropharyngeal atresia, mild mandibulofacial dysostosis, auricular malformations, and costovertebral anomalies (hemivertebrae, block vertebra, partial fusion of the ribs, absent ribs). There have been no further descriptions in the literature since 1989." "" + "hemolytic disease due to fetomaternal alloimmunization" "True" + "hemolytic disease of the newborn with Kell alloimmunization" "" + "bile acid CoA ligase deficiency and defective amidation" "Bile acid CoA ligase deficiency and defective amidation is an anomaly of bile acid synthesis characterized by fat malabsorption, neonatal cholestasis and growth failure." "" + "obsolete rare tumor of salivary glands" "True" "true" + "malignant epithelial tumor of salivary glands" "" + "idiopathic recurrent stupor" "Idiopathic recurrent stupor is a rare neurologic disease characterized by unpredictable, transient and spontaneous unresponsiveness lasting from hours to days, with a frequency of three to seven attacks per year, in the absence of readily discernible toxic, metabolic or structural causes." "" + "mucopolysaccharidosis type 6, rapidly progressing" "" + "mucopolysaccharidosis type 6, slowly progressing" "" + "Machado-Joseph disease type 1" "Machado-Joseph disease type 1 is a rare, usually severe subtype of Machado-Joseph disease (SCA3/MJD) characterized by the presence of marked pyramidal and extrapyramidal signs." "" + "Machado-Joseph disease type 2" "Machado-Joseph disease type 2 is a subtype of Machado-Joseph disease (SCA3/MJD) with intermediate severity characterized by an intermediate age of onset, cerebellar ataxia and external progressive ophthalmoplegia, with variable pyramidal and extrapyramidal signs." "" + "Machado-Joseph disease type 3" "Machado-Joseph disease type 3 is a subtype of Machado-Joseph disease (SCA3/MJD) of milder severity characterized by late onset, slower progression, and peripheral amyotrophy." "" + "hemihyperplasia-multiple lipomatosis syndrome" "Hemihyperplasia-multiple lipomatosis syndrome is a rare, genetic overgrowth syndrome characterized by non- progressive, asymmetrical, moderate hemihyperplasia (frequently affecting the limbs) associated with slow growing, painless, multiple, recurrent, subcutaneous lipomatous masses distributed throughout entire body (in particular back, torso, extremities, fingers, axillae). Superficial vascular malformations may also be associated. Increased risk of intra-abdominal embryonal malignancies may be associated." "" + "osteochondritis dissecans" "A rare genetic skeletal disorder characterized clinically by abnormal chondro-skeletal development, disproportionate short stature and skeletal deformation mainly affecting the knees, hips, ankles and elbows with onset generally in late childhood or adolescence." "" + "osteonecrosis of genetic origin" "An instance of osteonecrosis that is caused by a modification of the individual's genome." "" + "limbic encephalitis with caspr2 antibodies" "Limbic encephalitis with caspr2 antibodies is a rare neuroimmunological disorder characterized by the onset of cognitive deficits, psychiatric disturbances (e.g. personality changes), seizures, peripheral nerve hyperexcitability, dysautonomia, neuropathic pain, insomnia and weight loss, in association with detection of caspr2 antibodies in serum or cerebrospinal fluid, with or without underlying malignancies. Other features reported include blepharoclonus, myoclonic status epilepticus, and dyskinesia." "" + "10q22.3q23.3 microduplication syndrome" "" + "hyperinsulinism due to UCP2 deficiency" "HyHyperinsulism due to UCP2 deficiency (HIUCP2) is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI) characterized by hypoglycemic episodes from the neonatal period, a good clinical response to diazoxide and a probable transient nature of the disease with spontaneous resolution." "" + "autosomal dominant hyperinsulinism due to SUR1 deficiency" "Autosomal dominant hyperinsulinism due to SUR1 deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI), characterized by hypoglycemic epiosodes that are usually mild, escaping detection during infancy and usually a good clinical response to diazoxide. Autosomal dominant hyperinsulinism due to SUR1 deficiency usually has a milder phenotype when compared to that resulting from recessive K-ATP mutations (recessive forms of Diazoxide-resistant hyperinsulinism)." "" + "autosomal dominant hyperinsulinism due to Kir6.2 deficiency" "Autosomal dominant hyperinsulinism due to Kir6.2 deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI) characterized by hypoglycemic epiosodes that are usually mild, escaping detection during infancy, and usually a good clinical response to diazoxide, (but some are diazoxide resistant). Autosomal dominant hyperinsulinism due to Kir6.2 deficiency usually has a milder phenotype when compared to that resulting from recessive K+ (K-ATP) channel mutations (Recessive forms of diazoxide-resistant hyperinsulinism)." "" + "diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency" "" + "diazoxide-resistant focal hyperinsulinism" "Diazoxide-resistant focal hyperinsulism (DRFH) is a form of diazoxide-resistant hyperinsulinism characterized by recurrent episodes of profound hypoglycemia caused by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) due to a focal adenomatous hyperplasia of pancreas, that is unresponsive to medical treatment with diazoxide, necessitating complete excision of the focal lesion." "" + "diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency" "" + "adult-onset non-insulinoma persistent hyperinsulinemic hypoglycemia" "Diazoxide-resistant hyperinsulism (DRH) is form of congenital isolated hyperinsulinism caused by an abnormal insulin production by b-cells in the pancreas that can be diffuse or focal and is characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia), recurrent episodes of profound hypoglycemia and resistance to medical management with diazoxide" "" + "sporadic pheochromocytoma/secreting paraganglioma" "Sporadic pheochromocytoma/secreting paraganglioma are isolated, non-familial, catecholamin-producing tumors arising from neuroendocrine chromaffin cells in the adrenal medulla or in extra-adrenal chromaffin tissue, respectively. The majority of these tumors are benign and the presenting symptoms are typically caused by the increased catecholamine production of the tumor, including hypertension (often paroxysmal), tachycardia, anxiety and/or excessive sweating." "" + "sporadic pheochromocytoma" "" + "sporadic secreting paraganglioma" "" + "symptomatic form of Coffin-Lowry syndrome in female carriers" "" + "osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome" "Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome is characterized by osteogenesis imperfecta, wormian bones, optic atrophy, retinopathy, seizures and severe developmental delay. It has been described in two sibs born to consanguineous parents." "" + "osteopathia striata-pigmentary dermopathy-white forelock syndrome" "Osteopathia striata-pigmentary dermopathy-white forelock syndrome is characterised by the association of osteopathia striata (longitudinal striations through most of the long bones) with a macular, hyperpigmented dermopathy and a white forelock." "" + "osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome" "Osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome is characterised by osteoporosis, macrocephalus, brachytelephalangy, and hyperextensibility of the joints. Congenital amaurosis and intellectual deficit have also been reported. This syndrome has been described in three members of one family." "" + "polycystic ovaries-urethral sphincter dysfunction syndrome" "Polycystic ovaries-urethral sphincter dysfunction syndrome is characterised by urinary retention and incomplete emptying of the bladder associated with abnormal electromyographic activity. It has been described in 33 women, 14 of whom also had polycystic ovaries." "" + "Spasmus nutans" "Spasmus nutans (SN) is a rare eye disease characterized by the clinical triad of asymmetric and pendular nystagmus, head nodding, and torticollis." "" + "acute endophthalmitis" "Acute form of endophthalmitis." "" + "chronic endophthalmitis" "Chronic form of endophthalmitis." "" + "toxic maculopathy due to antimalarial drugs" "Toxic maculopathy due to antimalarial drugs is a rare, acquired eye disease, due to long-term exposure to chloroquinine (CQ) or hydrochloroquinine (HCQ), characterized by a slowly progressive, usually non-reversible, development of bilateral atrophic bull's-eye maculopathy (progressive loss of central vision acuity, reduced color vision and central scotoma), which in severe cases can spread over the entire fundus, leading to widespread retinal atrophy and visual loss." "" + "primary oculocerebral lymphoma" "Primary oculocerebral lymphoma is a rare, primary, organ-specific, extranodal non-Hodgkin's lymphoma (typically diffuse large B-cell lymphoma), simultaneously affecting the intraocular compartments (retina, vitreous, optic nerve, uvea and others) and the central nervous system (commonly the cerebellum, spinal cord or pia mater). The presenting symptoms vary depending on the localization of the tumor and may include vitreous floaters or blurred vision, raised intracranial pressure (headache, vomiting, papilledema) and/or focal neurological deficits." "" + "" "true" + "obsolete intermediate uveitis" "" "true" + "infectious posterior uveitis" "" + "infectious panuveitis" "" + "paraneoplastic uveitis" "" + "postorgasmic illness syndrome" "A rare condition in which a man develops flu-like symptoms after ejaculation (when semen is released from the penis). Specific symptoms can include extreme fatigue, weakness, feverishness or sweating, mood changes or irritability, memory or concentration problems, and/or a stuffy nose or itching eyes. Symptoms may occur within seconds, minutes, or a few hours after ejaculation. Most symptoms last for 2 to 7 days and go away on their own. The underlying cause of POIS is poorly understood. Some scientists believe it may be due to a semen allergy that causes an immediate hypersensitivity reaction. There is no standard treatment for POIS, but some men have been treated with SSRIs, antihistamines, and/or benzodiazepines. Hyposensitization therapy (decreasing the immune response by exposure to semen) reportedly improved symptoms in two men with POIS." "" + "calciphylaxis" "Calciphylaxis is a disease in which blood vessels (veins and arteries) become blocked by a build-up of calcium in the walls of the vessels, preventing blood from flowing to the skin or internal organs. The lack of blood flow (ischemia) damages healthy tissue and causes itto die (necrosis). The most obvious and frequent symptom of calciphylaxis is damage to the skin, as ulcers can developand become infected easily. Calciphylaxis can also affect fat tissue, internal organs, and skeletal muscle, causing infections, pain, and organ failure.These symptoms are often irreversible, and many individuals with calciphylaxis may not survive more thana few months after they are diagnosed due to infection that spreads throughout the body (sepsis), or organ failure. The exact cause of calciphylaxis is unknown. Treatments may include medications to reduce pain, antibiotics to treat infections, and various approaches to preventing the development or worsening of this condition." "" + "calciphylaxis cutis" "Calciphylaxis cutis is a life-threatening syndrome characterized by progressive and painful skin ulcerations associated with media calcification of medium-size and small cutaneous arterial vessels. It affects mainly patients on dialysis or after renal transplantation." "" + "visceral calciphylaxis" "Visceral calciphylaxis is a rare, life-threatening, non-inflammatory vasculopathy disorder characterized by diffuse precipitation of calcium in viscera (mainly in the heart or lungs, but also in the stomach or kidneys) leading to fibrosis and thrombosis, which eventually cause necrotic ulcerations of the tissue. Patients may present with dyspnea, cough and respiratory failure or acute heart block and subsequent sudden cardiac death, depending on the affected organ. The disease mainly affects patients on dialysis or patients having undergone renal transplantation." "" + "laryngotracheoesophageal cleft type 0" "Laryngo-tracheo-esophageal cleft (LC) type 0 is a congenital respiratory tract anomaly characterized by a submucosal laryngo-tracheo-esophageal cleft with minor symptoms or an asymptomatic course." "" + "Pelizaeus-Merzbacher disease, connatal form" "The connatal form of Pelizaeus-Merzbacher disease (PMD) is the most severe form of PMD." "" + "Pelizaeus-Merzbacher disease, classic form" "The classic form of Pelizaeus-Merzbacher disease (PMD) is the infantile form of PMD." "" + "Pelizaeus-Merzbacher disease, transitional form" "The transitional form of Pelizaeus-Merzbacher disease (PMD) is the intermediate form of PMD." "" + "Pelizaeus-Merzbacher disease in female carriers" "Pelizaeus-Merzbacher disease (PMD) in female carriers is the presentation of PMD in some women carrying mutations in the PLP1 gene (Xq22)." "" + "null syndrome" "The null syndrome is part of the Pelizaeus-Merzbacher disease (PMD) spectrum and is characterized by mild PMD features associated with demyelinating peripheral neuropathy." "" + "autoimmune pancreatitis type 1" "Type 1 autoimmune pancreatitis is a form of autoimmune pancreatitis seen in elderly males (>60 years) and presenting with abdominal pain, steatorrhea, obstructive jaundice and other organ (bile duct, kidneys and retroperitoneum) involvement. It is thought to be due to an immunoglobulin G4 (IgG4)-associated systemic disease." "" + "autoimmune pancreatitis type 2" "Type 2 autoimmune pancreatitis is a form of autoimmune pancreatitis (see this term) affecting both sexes and having a younger age of onset (<60 years) and presenting with abdominal pain, steatorrhea and obstructive jaundice." "" + "distal monosomy 12p" "Distal monosomy 12p is a rare partial autosomal monosomy characterized by language development delay with childhood apraxia of speech, mild intellectual disability, behavourial abnormalities (autistic spectrum disorder, attention deficit hyperactivity disorder, anxiety) and mildly dysmorphic nonspecific features. Additional clinical features may include muscular hypotonia and joint laxity, hernias and microcephaly." "" + "chromosome 12p deletion" "A cytogenetic abnormality that refers to the allelic loss of all or part of the short arm of chromosome 12." "" + "autosomal semi-dominant severe lipodystrophic laminopathy" "" + "erythropoietic uroporphyria associated with myeloid malignancy" "" + "recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome" "Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome is a rare, genetic, syndromic intellectual disabilty disorder characterized by severe intellectual disability, progressive, postnatal, multiple joint contractures and severe motor dysfunction. Patients present arrest and regression of motor function and speech acquisition, as well as contractures which begin in lower limbs and slowly progress in an ascending manner to include spine and neck, resulting in individuals presenting a specific fixed position." "" + "familial Alzheimer-like prion disease" "" + "familial omphalocele syndrome with facial dysmorphism" "Familial omphalocele syndrome with facial dysmorphism is a rare genetic developmental defect during embryogenesis characterized by omphalocele associated with facial dysmorphism including flat face, short, upturned nose, long and wide philtrum and flattened maxillary arch and abnormalities of hands." "" + "hereditary sensorimotor neuropathy with hyperelastic skin" "" + "hemoglobinopathy Toms River" "" + "familial progressive hyper- and hypopigmentation" "Familial progressive hyper- and hypopigmentation is a rare, genetic, skin pigmentation anomaly disorder characterized by progressive, diffuse, partly blotchy, hyperpigmented lesions that are intermixed with multiple café-au-lait spots, hypopigmented maculae and lentigines and are located on the face, neck, trunk and limbs, as well as, frequently, the palms, soles and oral mucosa. Dispigmentation pattern can range from well isolated café-au-lait/hypopigmented patches on a background of normal-appearing skin to confetti-like or mottled appearance." "" + "cutaneous collagenous vasculopathy" "Cutaneous collagenous vasculopathy (CCV) is a primary microangiopathy confined to the skin, characterized by multiple and widespread telangiectasias." "" + "bullous diffuse cutaneous mastocytosis" "Bullous diffuse cutaneous mastocytosis (BDCM) is a form of diffuse cutaneous mastocytosis (DCM) characterized by generalized erythroderma and severe blistering associated with the accumulation of mast cells in the skin." "" + "diffuse cutaneous mastocytosis" "Diffuse cutaneous mastocytosis (DCM) is a rare form of cutaneous mastocytosis (CM) characterized by generalized erythroderma, various degrees of blistering, skin with a ''peau d'orange'' appearance and the accumulation of mast cells in the skin. At least two DCM variants are recognized, one with extreme blistering (Bullous DCM) and one with infiltrations (Pseudoxanthomatous DCM)." "" + "pseudoxanthomatous diffuse cutaneous mastocytosis" "Pseudoxanthomatous diffuse cutaneous mastocytosis (PDCM) is a rare form of diffuse cutaneous mastocytosis (DCM) characterized by yellow-orange infiltrated and xanthogranuloma-like lesions with only limited blistering." "" + "intralobar congenital pulmonary sequestration" "" + "congenital pulmonary sequestration" "A rare congenital abnormality of the lungs. It consists of a mass of lung parenchyma that does not communicate with the bronchial tree and receives its blood supply from the systemic circulation instead of the pulmonary circulation." "" + "extralobar congenital pulmonary sequestration" "" + "communicating congenital bronchopulmonary-foregut malformation" "" + "congenital pulmonary airway malformation type 0" "" + "congenital pulmonary airway malformation type 1" "" + "congenital pulmonary airway malformation type 2" "" + "congenital pulmonary airway malformation type 3" "" + "congenital pulmonary airway malformation type 4" "" + "obsolete anterior uveitis" "" "true" + "obsolete posterior uveitis" "" "true" + "idiopathic anterior uveitis" "" + "idiopathic posterior uveitis" "Idiopathic posterior uveitis is a rare, potentially sight-threatening, ocular disease, not attributed to any specific ocular or systemic cause, characterized by focal, multifocal or diffuse non-infectious inflammation in the posterior uvea (i.e. choroiditis, chorioretinitis, retinitis and neuroretinitis). Visual morbidity due to complications (including cystoid macular edema and choroidal neovascularization) has been reported." "" + "inherited ichthyosis syndromic form" "A inherited ichthyosis that is part of a larger syndrome." "" + "syndromic recessive X-linked ichthyosis" "Syndromic recessive X-linked ichthyosis (RXLI) refers to the cases of RXLI that are associated with extracutaneous manifestations as part of a syndrome." "" + "acral self-healing collodion baby" "Acral self-healing collodion baby (SHCB) is a variant of SHCB characterized by the presence at birth of a collodion membrane only at the extremities." "" + "obsolete autosomal ichthyosis syndrome with other associated signs" "True" "true" + "spastic paraplegia-facial-cutaneous lesions syndrome" "Spastic paraplegia-facial-cutaneous lesions syndrome is a complex form of hereditary spastic paraplegia characterized by delays in motor development followed by a slowly progressive spastic paraplegia (affecting mainly lower extremities) associated with a desquamating facial rash with butterfly distribution (presenting at around two months of age) and dysarthria. There have been no further descriptions in the literature since 1982." "" + "demodicidosis" "Demodicidosis is a rare parasitic cutaneous disease due to Demodex mite infestation characterized by variable degrees of spinulosis, erythema, papules, and pustules, usually accompanied by a burning or pruritic sensation. Face (incl. eyelids) is most frequently affected, but ear canal, scalp, neck, back, chest, nipples, buttocks, penis, and extremity (legs and arms) involvement have also been observed. Dermoscopic examination reveals Demodex tails and follicular openings." "" + "renal caliceal diverticuli-deafness syndrome" "" + "alveolar echinococcosis" "Alveolar echinococcosis (AE) is a rare parasitic disorder that occurs after ingestion of eggs of Echinococcus multilocularis. AE is characterized by an initial asymptomatic incubation period of many years followed by a chronic course where the clinical manifestations include epigastric pain and jaundice." "" + "facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion" "" + "Xp22.13p22.2 duplication syndrome" "" + "penoscrotal transposition" "Penoscrotal transposition (PST) is a rare congenital genital anomaly in which the scrotum is positioned superior and anterior to the penis. PST may present with a broad spectrum of anomalies ranging from simple shawl scrotum (doughnut scrotum) to very complex extreme transposition with craniofacial, central nervous system, cardiac, gastrointestinal, urological, and other genital (undescended testicles, hypospadias, chordee) malformations. Growth deficiency and intellectual disability may also be noticed (60% of cases)." "" + "tempi syndrome" "TEMPI syndrome is a rare multi-systemic disease characterized by the presence of Telangiectasias, Erythrocytosis with elevated erythropoietin levels, Monoclonal gammopathy, Perinephric-fluid collections, and Intrapulmonary shunting." "" + "DICER1 syndrome" "A rare, autosomal dominant inherited syndrome caused by mutations in the DICER1 gene. People with this syndrome are at an increased risk of developing pleuropulmonary blastoma, cystic nephroma, Sertoli-Leydig cell tumor of the ovary, and multinodular goiter." "" + "fetal lung interstitial tumor" "" + "reversible cerebral vasoconstriction syndrome" "Reversible cerebral vasoconstriction syndrome (RCVS) is an infrequent cerebrovascular disorder characterized by severe headaches with or without focal neurological deficits or seizures, and a reversible segmental and multifocal vasoconstriction of cerebral arteries." "" + "well-differentiated fetal adenocarcinoma of the lung" "Well-differentiated fetal adenocarcinoma (WDFA) of the lung is a rare, primary, low-grade, bronchopulmonary neoplasm characterized by a well-circumscribed, usually large, pulmonary mass that is histologically composed of glycogen-rich neoplastic glands and tubules that resemble fetal lungs at 10 to 16 weeks of gestation and benign adjacent stroma. It typically presents with chest pain, cough, dyspnea, hemoptysis and/or generalized, non-specific symptoms, such as night sweats, lethargy, poor appetite and weight loss." "" + "obsolete small cell carcinoma of the bladder" "" "true" + "glycerol kinase deficiency, infantile form" "Infantile glycerol kinase deficiency (GKD) is a severe form of GKD characterized clinically by poor feeding, failure to thrive, salt-wasting dehydration, vomiting, Addisonian pigmentation, hypotonia, and disorders of consciousness. Some patients have complex GKD associated with adrenal hypoplasia congenita and/or Duchenne muscular dystrophy (DMD) with manifestations including intellectual deficit, dysmorphic facial features, abnormal external genitalia, strabismus, seizures, and progressive lethargy." "" + "isolated glycerol kinase deficiency" "Isolated glycerol kinase deficiency (GKD) is a very rare X-linked disorder of glycerol metabolism characterized biochemically by elevated plasma and urine glycerol levels, and clinically by variable neurometabolic manifestations, depending on the age of onset, and varying from a life-threatening childhood metabolic crisis to an asymptomatic adult form (infantile GKD, juvenile GKD, and adult GKD )." "" + "glycerol kinase deficiency, juvenile form" "Juvenile glycerol kinase deficiency (GKD) is an uncommon form of GKD characterized by Reye-like clinical manifestations including episodic vomiting, acidemia, and disorders of consciousness." "" + "glycerol kinase deficiency, adult form" "Adult glycerol kinase deficiency (GKD) is an uncommon form of GKD diagnosed fortuitously and characterized by pseudohypertriglyceridemia in otherwise healthy adults." "" + "chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids" "" + "acute zonal occult outer retinopathy" "Acute zonal occult outer retinopathy (AZOOR) is a rare condition that affects the eyes. People with this condition may experience a sudden onset of photopsia (the presence of perceived flashes of light) and an area of partial vision loss (a blindspot). Other symptoms may include 'whitening of vision' or blurred vision. Although anyone can be affected, the condition is most commonly diagnosed in young women (average age 36.7 years). The underlying cause of AZOOR is currently unknown; however, some researchers have proposed that infectious agents (such as viruses) or autoimmunity may play a role in the development of the condition. No treatment has been proven to improve the visual outcome of AZOOR; however, systemic corticosteroids are the most commonly used therapy." "" + "acute annular outer retinopathy" "" + "congenital pericardium anomaly" "Congenital pericardium anomaly comprises a group of rare congenital cardiac malformations characterized by the complete (Congenital complete agenesis of pericardium) or partial absence of the pericardium (Congenital partial agenesis of pericardium), or by the presence of pericardial cysts (Pleuropericardial cyst)." "" + "pericardial and diaphragmatic defect" "Pericardial and diaphragmatic defect is a rare combination of absent pericardium with congenital diaphragmatic defect." "" + "disorder of melanin metabolism" "" + "oculocutaneous or ocular albinism" "Albinism that affects the eyes, including ocular albinism and oculocutaneous albinism." "" + "inborn disorder of phenylalanin or tyrosine metabolism" "" + "obsolete Marfan syndrome type 2" "Hypothesized form of Marfan; dubious" "" "true" + "neonatal Marfan syndrome" "Neonatal Marfan syndrome is a rare, severe and life-threatening genetic disease, occuring during the neonatal period, characterized by classical Marfan syndrome manifestations in addition to facial dysmorphism (megalocornea, iridodonesis, ectopia lentis, crumpled ears, loose redundant skin giving a 'senile' facial appearance), flexion joint contractures, pulmonary emphysema, and a severe, rapidly progressive cardiovascular disease (including ascending aortic dilatation and severe mitral and/or tricuspid valve insufficiency). Additionally, skeletal manifestations (arachnodactyly, dolichostenomelia, pectus deformities) are also associated." "" + "disorder of vitamin and non-protein cofactor absorption and transport" "" + "short stature-webbed neck-heart disease syndrome" "Short stature-webbed neck-heart disease syndrome is characterized by short stature, intellectual deficit, facial dysmorphism, short webbed neck, skin changes and congenital heart defects. It has been reported in four Arab Bedouin sibs born to consanguineous parents." "" + "short stature-deafness-neutrophil dysfunction-dysmorphism syndrome" "Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome is characterised by short stature, sensorineural deafness, mutism, facial dysmorphism and abnormal neutrophil chemotaxis (leading to recurrent infections)." "" + "phakomatosis pigmentokeratotica" "Phakomatosis pigmentokeratotica (PPK) is a very rare epidermal nevus disorder characterized by the association of speckled lentiginous nevi with epidermal sebaceous nevi, and extracutaneous anomalies." "" + "phakomatosis pigmentovascularis" "" + "pili torti-onychodysplasia syndrome" "Pili torti-onychodysplasia is a form of ectodermal dysplasia characterised by dystrophy of the distal part of the nails and trichodysplasia. It has been described in only one family. Transmission is autosomal recessive." "" + "disorders of vitamin D metabolism" "" + "early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation" "Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation is a rare intellectual disability and epilepsy syndrome characterized by global developmental delay and mild to profound intellectual disability, multiple types of usually intractable focal and generalized seizures with variable abnormal EEG findings, and bilateral progressive parenchymal volume loss and thin corpus callosum on brain MRI." "" + "infective dermatitis associated with HTLV-1" "A rare and severe chronic disease characterized by recurrent chronic eczema (with erythematous, scaly and crusted lesions) mainly affecting seborrheic areas (e.g. scalp, forehead, eyelids, paranasal and periauricular skin, neck, axillae, and groin), a generalized fine papular rash, chronic nasal discharge with crusting of the anterior nares, and non-virulent Staphylococcus aureus or beta-hemolytic Streptococcus infections, thought to be a result of HTLV-1-induced immunosuppression. Lymphadenopathy, anemia, mild to moderate pruritus and increased incidence of other infections (e.g. crusted scabies) have also been reported in some patients. Patients may subsequently develop other HTLV-1 associated conditions such as adult T-cell leukemia/lymphoma and tropical spastic paraparesis." "" + "primary non-gestational choriocarcinoma of ovary" "Primary non-gestational choriocarcinoma of ovary is a rare ovarian germ cell malignant tumor, arising from primordial germ cells, usually presenting with nausea, vomiting, abdominal pain, menstrual irregularities, and characterized by fast growth pattern, metastasis to lung, liver and brain and production of human chorionic gonadotrophin (hCG). It is apparently chemoresistant and has a worse prognosis than gestational choriocarcinoma and hence should be distinguished from the latter by DNA polymorphism." "" + "non-central nervous system-localized embryonal carcinoma" "" + "malignancy diagnosed during pregnancy" "" + "Pilotto syndrome" "Pilotto syndrome is a rare genetic multiple developmental anomalies syndrome, that is characterized by craniofacial anomalies (microcephaly, brachycephaly, craniosynostosis, facial asymmetry, cleft lip, cleft palate, dysmorphic facial features, ear lobe malformations, low hair line), congenital heart defects, hypogenitalism and/or hypogonadism, intellectual disability, scoliosis or kyphoscoliosis, short hypoplastic ribs, failure to thrive, growth delay, short stature and/or micromelia. There have been no further descriptions in the literature since 1975." "" + "pyoderma gangrenosum-acne-suppurative hidradenitis syndrome" "" + "12q15q21.1 microdeletion syndrome" "12q15q21.1 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 12, with a highly variable phenotype, typically characterized by developmental delay, learning disability, intra-uterine and postnatal growth retardation, and mild facial dysmorphism that changes with age. Nasal speech and hypothyroidism are also associated." "" + "microtriplication 11q24.1" "Microtriplication 11q24.1 is an extremely rare partial autosomal tetrasomy, resulting from a partial triplication of the long arm of chromosome 11, characterized by intellectual disability (with severe verbal impairment), short stature with small extremities, keratoconus and distinctive facial features (round, course face, upward slanting palpebral fissures, mild synophris, large nose with thick ala nasi and triangular tip, large mouth with broad lips, short and smooth philtrum, large protruded chin, ears with adherent lobules). Additionally, patients are overweight and present hypercholesterolemia." "" + "fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex I deficiency" "" + "inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency" "Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency is a rare, genetic, chronic, primary adrenal insufficiency disorder, due to partial loss-of-function CYP11A1 mutations, characterized by early-onset adrenal insufficiency without associated abnormal external male genitalia. Patients present with signs of adrenal crisis, including electrolite abnormalities, severe weakness, recurrent vomiting and seizures. Ultrasound reveals absent (or very small) adrenal glands." "" + "juvenile nasopharyngeal angiofibroma" "Juvenile nasopharyngeal angiofibroma (JNA) is a rare and benign but locally aggressive fibrovascular tumor arising from the posterolateral wall of the nasopharynx, which affects mainly young and adolescent males (onset usually occurring between 7-19 years of age) and that presents as a mass in the nasopharynx and nasal cavity, leading to manifestations such as nasal obstruction, epistaxis, profound facial swelling, proptosis or diplopia. Although slowly progressive, it has a high rate of recurrence and sometimes invades adjacent structures." "" + "Epstein-Barr virus-related tumor" "" + "Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly" "Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly is a rare form of diffuse large B-cell lymphoma occurring most commonly in patients over the age of 50 (usually between 70-75 years of age), without overt immunodeficiency, and presenting with nodal and extranodal involvement (in sites such as the stomach, lung, skin and pancreas) and B symptoms (fever, night sweats, weight loss). The tumor is characterized by an aggressive course and a short survival rate." "" + "plasmablastic lymphoma" "An aggressive diffuse large B-cell lymphoma frequently arising in the setting of HIV infection and characterized by the presence of large neoplastic cells resembling B-immunoblasts which have the immunophenotypic profile of plasma cells. Sites of involvement include the oral cavity, sinonasal cavity, skin, soft tissues, gastrointestinal tract, and bone." "" + "lymphoepithelial-like carcinoma" "Lymphoepithelial-like carcinoma is a rare, malignant epithelial tumor, composed of undifferentiated epithelial cells with dense lymphoid stroma, mimicking lymphoepithelioma. It often shows association with Epstein-Barr virus infection and can develop in various organs, such as the nasopharynx, stomach, skin, breast and lungs, among others. The presenting symptoms, as well as the radiologic features, are usually nonspecific and depend on the affected site and organ." "" + "myopericytoma" "A usually slow growing, subcutaneous nodular neoplasm arising from myopericytes. It is composed of myoid cells arranged in a perivascular growth pattern. The vast majority of cases have a benign clinical course." "" + "neonatal glycine encephalopathy" "Neonatal glycine encephalopathy is a frequent, usually severe form of glycine encephalopathy (GE) characterized by coma, apnea, hypotonia, seizure and myoclonic jerks in the neonatal period, and subsequent developmental delay." "" + "infantile glycine encephalopathy" "Infantile glycine encephalopathy is a mild to severe form of glycine encephalopathy (GE), characterized by early hypotonia, developmental delay and seizures." "" + "inborn disorder of proline metabolism" "An acquired metabolic disease that is has its basis in the disruption of proline metabolic process." "" + "inborn disorder of ornithine or proline metabolism" "" + "transient hyperammonemia of the newborn" "" + "obsolete organic aciduria" "" "true" + "vitamin B12-unresponsive methylmalonic acidemia type mut0" "Vitamin B12-unresponsive methylmalonic acidemia type mut0 is an inborn error of metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12." "" + "congenital rubella syndrome" "An infectious embryofetopathy that may present in an infant as a result of maternal infection and subsequent fetal infection with rubella virus. CRS can lead to deafness, cataract, and variety of other permanent manifestations including cardiac and neurological defects." "" + "idiopathic chronic eosinophilic pneumonia" "Idiopathic chronic eosinophilic pneumonia (ICEP) is a very rare, severe, interstitial lung disease of insidious onset with subacute or chronic non-specific respiratory manifestations (dyspnea, cough, wheezing) often associated with systemic manifestations (fatigue, malaise, weight loss)." "" + "POEMS syndrome" "POEMS syndrome is a paraneoplastic syndrome characterized by polyradiculoneuropathy (P), organomegaly (O), endocrinopathy (E), clonal plasma cell disorder (M), and skin changes (S). Other features include papilledema, extravascular volume overload, sclerotic bone lesions, thrombocytosis/erythrocytosis, and elevated VEGF levels." "" + "hereditary acrokeratotic poikiloderma, Weary type" "" + "obsolete kindler syndrome" "" "true" + "obsolete rare skin disease" "Rare skin disease." "True" "true" + "obsolete rare head and neck tumor" "Rare head and neck neoplasia." "True" "true" + "congenital varicella syndrome" "Fetal varicella syndrome (CVS) is an acquired developmental anomaly syndrome characterized by skin, neurological, ocular, limbs and growth defects secondary to maternal Varicella-Zoster Virus (VZV) infection." "" + "poliovirus infection" "An disease or disorder caused by infection with Enterovirus C." "" + "obsolete polydactyly" "" "true" + "congenital enterovirus infection" "Congenital viral infections with enteroviruses (EV) including coxsackie viruses and ECHO viruses is an infectious embryofetopathy that have been reported to cause spontaneous abortion, stillbirth, fetal malformations and acute systemic illness in the newborn." "" + "reactive arthritis" "Reactive arthritis (ReA) is an autoimmune disorder belonging to the group of seronegative spondyloarthropathies and is characterized by the classic triad of arthritis, urethritis and conjunctivitis." "" + "preaxial polydactyly-colobomata-intellectual disability syndrome" "Preaxial polydactyly-colobomata-intellectual disability syndrome is characterised by growth retardation, intellectual deficit, preaxial polydactyly and colobomatous anomalies. It has been described in one pair of sibs (brother and sister). The mode of transmission is thought to be autosomal recessive." "" + "obsolete polymicrogyria-turricephaly-hypogenitalism syndrome" "" "true" + "polyneuropathy-intellectual disability-acromicria-premature menopause syndrome" "Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome is a rare genetic syndromic intellectual disability characterized by intellectual disability, polyneuropathy, short stature and short limbs, brachydactyly, and premature ovarian insufficiency. Only one familial case with three affected females was described and there have been no further descriptions in the literature since 1971." "" + "congenital herpes simplex virus infection" "Congenital herpes virus infection is a group of anomalies that an infant may present as a result of maternal infection and subsequent foetal infection with herpes virus. This virus causes recurrent cutaneous infections in adults, often involving the lips or the genitalia. Herpes infections in other organs, such as the liver or central nervous system, are less frequent." "" + "congenital herpes virus infection" "An infectious embryofetopathy caused by infection with Herpesviridae." "" + "familial clubfoot due to 5q31 microdeletion" "" + "familial clubfoot due to PITX1 point mutation" "" + "acute generalized exanthematous pustulosis" "A widespread acute rash characterized by fever and multiple small pustules on a reddish background." "" + "celiac trunk compression syndrome" "" + "tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria" "Tetrahydrobiopterin-responsive hyperphenylalaninemia/ phenylketonuria (BH4-responsive hyperphenylalaninemia/ phenylketonuria) is a form of phenylketonuria (PKU), an inborn error of amino acid metabolism, characterized by mild to moderate symptoms of PKU including impaired cognitive function, seizures, and behavioral and developmental disorders, and a marked reduction and normalization of elevated phenylalanine concentrations after oral loading with tetrahydrobiopterin (BH4; sapropterin dihydrochloride), an essential cofactor of phenylalanine hydroxylase." "" + "Grayson-Wilbrandt corneal dystrophy" "Grayson-Wilbrandt corneal dystrophy (GWCD) is an extremely rare form of corneal dystrophy characterized by variable patterns of opacification in the Bowman layer of the cornea which extend anteriorly into the epithelium with decreased to normal visual acuity." "" + "pre-descemet corneal dystrophy" "Pre-Descemet corneal dystrophy (PDCD) is a rare form of stromal corneal dystrophy characterized by focal, fine, gray opacities in the deep stroma immediately anterior to the Descemet membrane, with no effect on vision." "" + "ketamine-induced biliary dilatation" "Ketamine-induced biliary dilatation is an acquired biliary tract disease caused by the abusive consumption of ketamine, which results in the fusiform dilatation of the common bile ducts (CBD) without obstructive lesions or dilatation of the intrahepatic biliary ducts. Possible manifestations of the underlying cholangiopathy include epigastric pain and impaired liver function. Severity of CBD dilatation appears to correlate with the duration of ketamine consumption and the condition has been reported to be reversible in abstinent patients." "" + "fixed pigmented erythema" "" + "frontotemporal dementia, right temporal atrophy variant" "Right temporal lobar atrophy (RTLA) is an anatomic variant of frontotemporal dementia (FTD), characterized by behavioral dysfunction, personality changes, episodic memory loss, and prosopagnosia; attributable to an asymmetrical predominantly right-sided, frontotemporal atrophy." "" + "hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome" "Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome is a rare, potentially fatal, genetic, visceral malformation syndrome characterized by neonatal diabetes, hypoplastic or annular pancreas, duodenal and jejunal atresia, as well as gallbladder aplasia or hypoplasia. Patients typically present intrauterine growth restriction, failure to thrive, malnutrition, intestinal malrotation, malabsorption, conjugated hyperbilirubinemia, acholia and infections. Cardiac anomalies may also be associated." "" + "distal Xq28 microduplication syndrome" "Distal Xq28 microduplication syndrome is a rare, hereditary, syndromic intellectual disability characterized by cognitive impairment, behavioral and psychiatric problems, recurrent infections, atopic diseases, and distinctive facial features in males. Females are clinically asymptomatic or mildly affected, presenting mild learning difficulties and facial dysmorphism." "" + "1p21.3 microdeletion syndrome" "1p21.3 microdeletion syndrome is an extremely rare chromosomal anomaly characterized by severe speech and language delay, intellectual deficiency, autism spectrum disorder." "" + "hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome" "" + "deficiency in anterior pituitary function - variable immunodeficiency syndrome" "" + "rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome" "A very rare disorder that appears after the first year and a half of life in previously healthy children. It is characterized by rapid-onset weight gain, hypothalamic dysfunction, breathing abnormalities, and autonomic system dysregulation. The hypothalamic dysfunction manifestations include inability to maintain normal water balance, high prolactin levels, low thyroid, low cortisol, and early or late puberty. The breathing abnormalities include sleep apnea and alveolar hypoventilation, requiring ventilation support. The autonomic system dysregulation includes eye abnormalities, intestinal abnormalities, temperature dysregulation, and low heart rhythm. This disorder requires early recognition because it may lead to cardiorespiratory arrest. Up to 40% of the patients develop tumors of neural crest origin." "" + "fetal cytomegalovirus syndrome" "An infection with the Cytomegalovirus that is present from birth." "" + "porencephaly" "Porencephaly is characterized by a circumscribed intracerebral cavity of variable size that may be bordered by abnormal polymicrogyric grey matter. In extreme cases, this cavity may result in a communication between the pial surface and the ventricle; this is termed schizencephaly." "" + "2q31.1 microduplication syndrome" "True" + "Reunion island Larsen syndrome" "" + "obsolete rare nevus" "Rare nevus." "True" "true" + "postpoliomyelitis syndrome" "Postpoliomyelitis syndrome (PPS) is a neurologic disorder characterized by the development of new neuromuscular symptoms such as progressive muscular weakness or abnormal muscle fatigability occurring in survivors of the acute paralytic form of poliomyelitis, 15-40 years after recovery from the disease, and that is unexplained by other medical causes. Other manifestations that can occur gradually include generalized fatigue, muscle atrophy, muscle and joint pain, intolerance to cold, and difficulties sleeping, swallowing or breathing." "" + "chronic intestinal failure" "Chronic intestinal failure (CIF) is a chronic type of intestinal failure characterized by a nonfunctioning small bowel (that may be reversible or irreversal) where the body is unable to maintain energy and nutritional needs through absorption of food or nutrients via the intestinal tract (despite being metabolically stable) and which therefore necessitates long-term parenteral feeding. CIF may be the result of congenital digestive diseases (such as gastroschisis, atresia of small intestine), short bowel syndrome, intra-abdominal or pelvic cancer, or progressive and devastating gastrointestinal or systemic benign diseases (such as Crohn disease)." "" + "non-syndromic amelia" "A congenital malformation characterized by the complete absence of all limbs." "" + "intercalary limb defects" "" + "adactyly of hand" "" + "postaxial polydactyly of fingers" "" + "non-syndromic congenital joint dislocations" "" + "non-syndromic limb overgrowth" "" + "obsolete dysostosis with combined reduction defects of upper and lower limbs" "" "true" + "amelia of upper limb" "A non-syndromic amelia that involves the forelimb." "" + "amelia of lower limb" "A non-syndromic amelia that involves the hindlimb." "" + "tetra-amelia" "" + "humeral agenesis/hypoplasia" "Humeral agenesis/hypoplasia is a rare, non-syndromic limb reduction defect characterized by the unilateral or bilateral presence of a short arm with completely absent or underdeveloped humerus, frequently associated with ulnar and/or radial malformations. Patients may present with the appearance of the forearm directly attached to the shoulder, no articulation at the shoulder joint, impossible passive extension of the arm beyond the mid-axillary line, no elbow joints, bowing of the radius, a short ulna and/or ulnar/radial deviation of the hand at the wrist." "" + "congenital absence of upper arm and forearm with hand present" "A congenital malformation in which the upper portion of a limb is either shortened or absent." "" + "congenital absence of thigh and lower leg with foot present" "" + "congenital absence of both forearm and hand" "Congenital absence of both forearm and hand is a rare developmental defect during embryogenesis characterized by unilateral or bilateral arrest of proximal to distal development of the upper limb, leading to a transverse deficiency with absence of the forearm, wrist and hand. A short below-the-elbow amputation is most commonly observed and the residual limb is usually well cushioned, with rudimentary nubbins or dumpling possibly found on the end." "" + "congenital absence of both lower leg and foot" "" + "acheiria" "" + "apodia" "" + "congenital absence/hypoplasia of thumb" "Congenital absence/hypoplasia of thumb is a rare developmental defect during embryogenesis characterized by underdevelopment of the thumb, ranging from a slight decrease in thumb size to complete absence of the thumb. The malformation may occur isolated, combined to other defects of the hand or upper limb, or as part of a multiple congenital anomaly syndrome." "" + "split hand" "Split hand is a rare, non-syndromic limb reduction defect, clinically and genetically heterogeneous, characterized by bilateral or unilateral underdevelopment or absence of the central rays of the autopod, with absence of all or just some of the central phalanges and at least part of the associated metacarpal bones, yielding a cleft appearance of the hand. It is frequently associated with syndactyly and aplasia/hypoplasia of remaining digits and metacarpal bones. No other dysmorphic features are observed and development is appropriate for age." "" + "split foot" "" + "non-syndromic brachydactyly of fingers" "A non-syndromic brachydactyly that involves the manus." "" + "non-syndromic brachydactyly of toes" "A non-syndromic brachydactyly that involves the pes." "" + "fetal parvovirus syndrome" "Foetal parvovirus syndrome is a foetopathy likely to occur when a pregnant woman is infected by parvovirus B19. In adults, the virus causes a butterfly erythema infectiosum (also called Fifth Disease; 'slapped cheek disease') and flu-like symptoms with symmetric polyarthralgias, which usually do not warrant prenatal diagnosis." "" + "triphalangeal thumb-polysyndactyly syndrome" "Triphalangeal thumb-polysyndactyly syndrome (TPT-PS) is a hand-foot malformation characterized by triphalangeal thumbs and pre- and postaxial polydactyly, isolated syndactyly or complex polysyndactyly." "" + "hyperphalangy" "Hyperphalangy is a congenital, non-syndromic limb malformation characterized by the presence of an accessory phalanx between metacarpal/metatarsal and proximal phalanx, or between any two other phalanges of a digit, excluding the thumb. Hypherphalangy is almost always bilateral and patients present no more than five digits and no other skeletal anomalies." "" + "central polydactyly of fingers" "" + "Preaxial polydactyly of toes" "" + "obsolete postaxial polydactyly of toes" "" "true" + "obsolete central polydactyly of toes" "" "true" + "syndactyly type 6" "Syndactyly type 6 is a rare, genetic, non-syndromic, congenital limb malformation characterized by unilateral fusion of second to fifth fingers, amalgamation of distal phalanges in a knot-like structure, and second- and third-toe fusion. Some individuals present only with webbing between second and third toes, without involvement of fingers." "" + "familial isolated clinodactyly of fingers" "Familial isolated clinodactyly of fingers is a rare, genetic, non-syndromic, congenital limb malformation characterized by angulation of a digit in the radio-ulnar (coronal) plane, away from the axis of joint flexion-extension, in several members of a single family with no other associated manifestations. Deviation is usually bilateral and commonly involves the fifth finger. Affected digits present trapezoidal or delta-shaped phalanges on imaging." "" + "congenital pseudoarthrosis of the tibia" "A condition characterized by non-union of the tibia, which is present at birth. It is usually associated with neurofibromatosis type 1." "" + "congenital pseudoarthrosis of the femur" "" + "congenital pseudoarthrosis of the fibula" "" + "congenital pseudoarthrosis of the radius" "" + "congenital pseudoarthrosis of the ulna" "" + "tibio-fibular synostosis" "Tibio-fibular synostosis is a rare, non-syndromic limb malformation characterized by fusion of the proximal or distal tibial and fibular metaphysis and/or diaphysis, frequently associated with distal positioning of the proximal tibiofibular joint, leg length discrepancy, bowing of the fibula, and valgus deformity of the knee." "" + "congenital shoulder dislocation" "" + "congenital elbow dislocation" "" + "congenital knee dislocation" "" + "congenital patella dislocation" "" + "patella aplasia/hypoplasia, unilateral" "" + "patella aplasia/hypoplasia, bilateral" "" + "macrodactyly of fingers" "" + "macrodactyly of toes" "" + "upper limb hypertrophy" "" + "lower limb hypertrophy" "Lower limb hypertrophy is a rare, genetic, non-syndromic developmental defect during embryogenesis characterized by uni- or bilateral overgrowth of lower limbs involving bones and/or soft tissues and resulting in an abnormal increase in leg length and/or width. Hypertrophy presents either as a proportionate overgrowth of entire limb or involves only the proximal or distal parts of it. Phenotype ranges from mild hypertrophy without functional disability to massively hypertrophied limb with knee flexion and ankle equinus contractures and macrodystrophia lipomatosa. Patients may also present vascular abnormalities (e.g. cutaneous angiomas, varicose veins) and myalgia." "" + "amelia of upper limb, unilateral" "" + "amelia of upper limb, bilateral" "" + "amelia of lower limb, unilateral" "" + "amelia of lower limb, bilateral" "" + "humeral agenesis/hypoplasia, unilateral" "" + "humeral agenesis/hypoplasia, bilateral" "" + "femoral agenesis/hypoplasia, unilateral" "" + "femoral agenesis/hypoplasia, bilateral" "" + "radial hemimelia, unilateral" "" + "radial hemimelia" "Radial hemimelia is a congenital longitudinal deficiency of the radius bone of the forearm characterized by partial or total absence of the radius." "" + "radial hemimelia, bilateral" "" + "ulnar hemimelia, bilateral" "" + "ulnar hemimelia" "Ulnar hemimelia is a congenital ulnar deficiency of the forearm characterized by complete or partial absence of the ulna bone." "" + "ulnar hemimelia, unilateral" "" + "tibial hemimelia, unilateral" "" + "tibial hemimelia, bilateral" "" + "fibular hemimelia, unilateral" "" + "fibular hemimelia" "Fibular hemimelia is a congenital longitudinal limb deficiency characterized by complete or partial absence of the fibula bone." "" + "fibular hemimelia, bilateral" "" + "obsolete congenital absence of upper arm and forearm with hand present, unilateral" "" "true" + "obsolete congenital absence of upper arm and forearm with hand present, bilateral" "" "true" + "congenital absence of thigh and lower leg with foot present, unilateral" "" + "congenital absence of thigh and lower leg with foot present, bilateral" "" + "congenital absence of both forearm and hand, unilateral" "Congenital absence of both forearm and hand, unilateral is a rare developmental defect during embryogenesis characterized by a unilateral, transverse absence of the radius and ulna (of varying terminal lengths), as well as all the elements composing the hand. Left or right side may be involved." "" + "congenital absence of both forearm and hand, bilateral" "Congenital absence of both forearm and hand, bilateral is a rare developmental defect during embryogenesis characterized by a bilateral, transverse absence of the radius and ulna (of varying terminal lengths), as well as all the elements composing the hand." "" + "congenital absence of both lower leg and foot, unilateral" "" + "congenital absence of both lower leg and foot, bilateral" "" + "acheiria, unilateral" "" + "acheiria, bilateral" "" + "apodia, unilateral" "" + "apodia, bilateral" "" + "congenital absence/hypoplasia of thumb, unilateral" "Congenital absence/hypoplasia of thumb, unilateral is a rare developmental defect during embryogenesis characterized by the unilateral underdevelopment of the thumb, ranging from a slight decrease in thumb size to complete absence of the thumb." "" + "congenital absence/hypoplasia of thumb, bilateral" "Congenital absence/hypoplasia of thumb, bilateral is a rare developmental defect during embryogenesis characterized by bilateral underdevelopment of the thumbs, ranging from a slight decrease in thumb size to complete absence of the thumbs. This anomaly counts for 20-60% of thumb hypoplasias." "" + "congenital absence/hypoplasia of fingers excluding thumb, bilateral" "" + "adactyly of foot, unilateral" "" + "adactyly of foot" "" + "adactyly of foot, bilateral" "" + "split hand, unilateral" "Split hand, unilateral is a rare, non-syndromic limb reduction defect, clinically and genetically heterogeneous, characterized by unilateral underdevelopment or absence of the central rays of the autopod, with absence of all, or just some, of the central phalanges and at least part of the associated metacarpal bones, yielding a cleft appearance of the hand. It is frequently associated with syndactyly and aplasia/hypoplasia of remaining digits and metacarpal bones. No other dysmorphic features are observed and development is appropriate for age." "" + "split hand, bilateral" "Split hand, bilateral is a rare, non-syndromic limb reduction defect, clinically and genetically heterogeneous, characterized by bilateral underdevelopment or absence of the central rays of the autopod, with absence of all, or just some, of the central phalanges and at least part of the associated metacarpal bones, yielding a cleft appearance of the hand. It is frequently associated with syndactyly and aplasia/hypoplasia of remaining digits and metacarpal bones. No other dysmorphic features are observed and development is appropriate for age." "" + "split foot, unilateral" "" + "split foot, bilateral" "" + "brachydactyly of fingers, unilateral" "" + "brachydactyly of fingers, bilateral" "" + "brachydactyly of toes, unilateral" "" + "brachydactyly of toes, bilateral" "" + "symbrachydactyly of hand and foot, unilateral" "" + "symbrachydactyly of hand and foot, bilateral" "" + "hyperphalangy, unilateral" "" + "hyperphalangy, bilateral" "" + "polydactyly of a biphalangeal thumb, unilateral" "" + "polydactyly of a biphalangeal thumb, bilateral" "" + "polydactyly of a triphalangeal thumb, unilateral" "" + "polydactyly of a triphalangeal thumb, bilateral" "" + "polydactyly of an index finger, unilateral" "" + "polydactyly of an index finger, bilateral" "" + "polysyndactyly, unilateral" "" + "polysyndactyly, bilateral" "" + "postaxial polydactyly type A, unilateral" "" + "postaxial polydactyly type A, bilateral" "" + "postaxial polydactyly type B, unilateral" "" + "postaxial polydactyly type B" "" + "postaxial polydactyly type B, bilateral" "" + "central polydactyly of fingers, unilateral" "" + "central polydactyly of fingers, bilateral" "" + "Preaxial polydactyly of toes, unilateral" "" + "Preaxial polydactyly of toes, bilateral" "" + "obsolete postaxial polydactyly of toes, unilateral" "" "true" + "obsolete postaxial polydactyly of toes, bilateral" "" "true" + "obsolete central polydactyly of toes, unilateral" "" "true" + "obsolete central polydactyly of toes, bilateral" "" "true" + "zygodactyly type 2" "" + "zygodactyly type 3" "" + "zygodactyly type 4" "" + "congenital vertical talus, unilateral" "" + "congenital vertical talus, bilateral" "" + "humero-radio-ulnar synostosis, unilateral" "" + "humero-radio-ulnar synostosis" "Humero-radio-ulnar synostosis is an extremely rare, genetic, congenital joint formation defect disorder characterized by uni- or bilateral fusion of the humerus, radius and ulnar bones, leading to loss of elbow motion and, in most, functional arm incapacity. It may appear as distal humeral bifurcation with absent elbow joint and shortened arm length on imaging. Hand abnormalities, namely oligoectrosyndactyly, may be associated." "" + "humero-radio-ulnar synostosis, bilateral" "" + "humero-radial synostosis, unilateral" "" + "humero-radial synostosis, bilateral" "" + "humero-ulnar synostosis, unilateral" "" + "humero-ulnar synostosis" "" + "humero-ulnar synostosis, bilateral" "" + "radio-ulnar synostosis, unilateral" "" + "radio-ulnar synostosis, bilateral" "" + "Madelung deformity, unilateral" "" + "Madelung deformity" "Madelung disease, or deformity (MD) is a predominantly bilateral wrist anomaly characterized by shortened and bowed radii and long ulnae leading to dorsal dislocation of the distal ulna and limited mobility of the wrist and elbow." "" + "Madelung deformity, bilateral" "" + "congenital elbow dislocation, unilateral" "" + "congenital elbow dislocation, bilateral" "" + "congenital genu recurvatum" "An abnormal alignment of the knee backwards that is due to a deformity in the knee joint." "" + "congenital genu flexum" "" + "congenital patella dislocation, unilateral" "" + "congenital patella dislocation, bilateral" "" + "macrodactyly of fingers, unilateral" "" + "macrodactyly of fingers, bilateral" "" + "macrodactyly of toes, unilateral" "" + "macrodactyly of toes, bilateral" "" + "Prata-Liberal-Goncalves syndrome" "Acrodysplasia scoliosis is a rare, genetic dysostosis disorder characterized by brachydactyly and other finger/toe anomalies (short and/or wide metacarpals, abnormal or absent metatarsals, broad halluces), carpal synostosis, fused cervical vertebrae, scoliosis and spina bifida occulta. There have been no further descriptions in the literature since 1984." "" + "Proteus-like syndrome" "Proteus-like syndrome describes patients who do not meet the diagnostic criteria for Proteus syndrome but who share a multitude of characteristic clinical features of the disease." "" + "tick-borne encephalitis" "Tick-borne encephalitis is caused by an arbovirus of the Flaviviridae family (tick-borne encephalitis virus, TBEV), transmitted principally by the bite of the Ixodes ricinus tick. The symptomology is biphasic, with the initial phase being associated with a flu-like illness and the second phase (occurring in less than 10% of patients) with symptoms of meningitis or, more rarely, meningoencephalitis." "" + "46,XX disorder of sex development-anorectal anomalies syndrome" "46,XX disorder of sex development-anorectal anomalies syndrome is a rare developmental defect during embryogenesis syndrome characterized by a normal female karyotype, normal ovaries, male or ambiguous genitalia, urinary tract malformations (ranging from bilateral renal agenesis to mild unilateral hydronephrosis), müllerian duct anomalies (e.g. complete absence of the uterus and vagina, bicornuate uterus), and imperforate anus. Additional features may include tracheoesophageal fistula, radial aplasia, and malrotation of the gut." "" + "mitochondrial neurogastrointestinal encephalomyopathy" "A syndrome characterized by the association of gastrointestinal dysmotility, peripheral neuropathy, chronic progressive external ophthalmoplegia and leukoencephalopathy." "" + "spontaneous periodic hypothermia" "Spontaneous periodic hypothermia (SPH) is a neurological disorder characterized by spontaneous periodic hypothermia and hyperhidrosis in the absence of hypothalamic lesions." "" + "11p15.4 microduplication syndrome" "11p15.4 microduplication syndrome is a rare partial autosomal trisomy/tetrasomy characterized by obesity, global developmental delay and intellectual disability, facial dysmorphism (synophrys, high-arched eyebrows, large posteriorly rotated ears, upturned nose, long smooth philtrum, overbite and high palate), large hands and limb hypotonia. Additional features include seizures and behavioral abnormalities." "" + "mirror polydactyly-vertebral segmentation-limbs defects syndrome" "Mirror polydactyly-vertebral segmentation-limbs defects syndrome is characterised by mirror polydactyly, vertebral hypersegmentation and severe congenital limb deficiencies. Duodenal atresia and absent thymus were also reported. So far, it has been described in four unrelated infants identified through a congenital malformation screening program carried out in Spain. The prevalence was estimated at around 1 in 330,000. The etiology is unknown but it was suggested that the syndrome is caused by defective expression of a developmental control gene." "" + "Sagliker syndrome" "A rare bone disease that arises due to secondary hyperparathyroidism in patients with chronic renal failure receiving dialysis characterized by 'uglifying' the appearance of the face" "" + "painful orbital and systemic neurofibromas-marfanoid habitus syndrome" "" + "onychocytic matricoma" "Onychocytic matricoma is a rare tumor of the nail that is generally benign. Affected people often experience thickening of the involved portion of the nail. The tumor may be pigmented (melanonychia - a black or brown pigmentation of the normal nail plate) or non-pigmented. The exact underlying cause of onychocytic matricoma is currently unknown. It generally occurs sporadically in people with no family history of the condition. Treatment generally consists of surgical excision." "" + "onychomatricoma" "A neoplasm involving a UBERON:0002283." "" + "follicular cholangitis and pancreatitis" "Follicular cholangitis and pancreatitis is a rare pancreatobiliary disease characterized by marked duct-centered lymphoid follicular inflammation that develops in both biliary and pancreatic ductal systems, mainly affecting the hilar bile ducts and the pancreatic head. Patients present with jaundice, abdominal pain, liver dysfunction, pruritus and/or weight loss. Histology shows lymphoplasmacytic infiltration with formation of numerous, large lymphpoid follicles around the affected bile and pancreatic ducts." "" + "combined pulmonary fibrosis-emphysema syndrome" "" + "staphylococcal toxemia" "" + "diffuse large B-cell lymphoma of the central nervous system" "A diffuse large B-cell lymphoma arising from the central nervous system." "" + "T-cell/histiocyte rich large B cell lymphoma" "T-cell/histiocyte rich large B cell lymphoma (THRLBCL) is a rare variant of diffuse large B-cell lymphoma (DLBCL), mainly affecting middle-aged men and often not being discovered until an advanced disease stage, with involvement of the spleen, liver and bone marrow occurring at a greater frequency than in DLBCL. It is often difficult to diagnose due to its similarity with other lymphoid diseases such as classic Hodgkin lymphoma and nodular lymphocyte-predominant Hodgkin lymphoma and has an aggressive clinical course." "" + "primary cutaneous anaplastic large cell lymphoma" "Primary cutaneous anaplastic large cell lymphoma (C-ALCL) is a rare T-cell non-Hodgkin lymphoma that affects the skin and generally shows no extracutaneous involvement at presentation. It belongs to the spectrum of primary cutaneous CD30+ lymphoproliferative disorders along with lymphomatoid papulosis with which it shares overlapping clinical and histopathologic features." "" + "primary cutaneous CD30+ T-cell lymphoproliferative disease" "" + "splenic diffuse red pulp small B-cell lymphoma" "Splenic diffuse red pulp small B-cell lymphoma is a rare, indolent B-cell non-Hodgkin lymphoma characterized by abnormal proliferation of small, monomorphous, basophilic B-lymphocytes, with villous cytoplasm, in the splenic red pulp, bone marrow and peripheral blood. It typically presents in the late clinical stages with splenomegaly and moderate lymphocytosis. Cytopenias are rare and likely associated with hypersplenism." "" + "hairy cell leukemia variant" "Hairy Cell Leukemia variant (HCL-V) is defined as a rare and indolent form of small, mature, B-cell leukemia characterized by splenomegaly, an elevated white blood cell (WBC) count and hyper-cellular bone marrow. HCL-V is more aggressive and resistant to therapy than classical HCL (HCL-C)." "" + "diffuse large B-cell lymphoma with chronic inflammation" "Diffuse large B-cell lymphoma with chronic inflammation is an Epstein-Barr virus-associated malignant lymphoproliferative disorder, developing in a context of long-standing or slow-growing, chronically inflamed lesions, such as chronic pyothorax, metallic implants in bones and joints, chronic osteomyelitis, chronic venous ulcer, or, rarely granulomatous inflammation. The tumor is usually primarily localized, with no involvement of other organs." "" + "ALK-positive anaplastic large cell lymphoma" "ALK-positive anaplastic large cell lymphoma (ALK+ ALCL) is a type of ALCL, a rare and aggressive peripheral T-cell non-Hodgkin lymphoma affecting lymph nodes and extranodal sites, which is characterized by the expression of a protein called anaplastic lymphoma kinase (ALK)." "" + "ALK-negative anaplastic large cell lymphoma" "ALK-negative anaplastic large cell lymphoma (ALK- ALCL) is a type of ALCL, a rare and aggressive peripheral T-cell non-Hodgkin lymphoma affecting lymph nodes and extranodal sites, which is characterized by the lack of expression of a protein called anaplastic lymphoma kinase (ALK)." "" + "obsolete ependymal tumor" "" "true" + "facial nerve palsy due to herpes zoster infection" "" + "caudal regression sequence" "Caudal regression sequence is a rare congenital malformation of the lower spinal segments associated with aplasia or hypoplasia of the sacrum and lumbar spine." "" + "obsolete dystrophic epidermolysis bullosa" "" "true" + "intellectual disability-hypotonia-skin hyperpigmentation syndrome" "" + "X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome" "X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome is a rare X-linked intellectual disability syndrome characterized by intellectual disability associated with short stature, obesity, primary hypogonadism and an ichthyosiform skin condition. There have been no further descriptions in the literature since 1982." "" + "X-linked intellectual disability, Schutz type" "" + "acquired adult-onset immunodeficiency" "A acquired immunodeficiency that occurs in an adult." "" + "congenital sucrase-isomaltase deficiency with starch intolerance" "" + "congenital sucrase-isomaltase deficiency with minimal starch tolerance" "" + "congenital sucrase-isomaltase deficiency without starch intolerance" "" + "congenital sucrase-isomaltase deficiency with starch and lactose intolerance" "" + "congenital sucrase-isomaltase deficiency without sucrose intolerance" "" + "myospherulosis" "" + "X-linked complicated spastic paraplegia type 1" "An X-linked form of L1 syndrome characterized by spastic paraplegia, mild to moderate intellectual disability, normal MRI of the brain." "" + "obsolete rare tumor of gallbladder and extrahepatic biliary tract" "True" "true" + "obsolete rare tumor of liver and intrahepatic biliary tract" "Any of the forms of liver and intrahepatic bile duct neoplasm that have a rare incidence." "True" "true" + "obsolete rare intoxication due to medical products" "True" "true" + "hemiparkinsonism-hemiatrophy syndrome" "Hemiparkinsonism-hemiatrophy syndrome is a rare parkinsonian disorder characterized by unilateral body atrophy and slowly progressive, ipsilateral hemiparkinsonian signs (bradykinesia, rigidity, and tremor). Patients typically present with unilateral, action-induced dystonia, in upper or lower limbs, that progresses and becomes bilateral or with tremor which occurs predominantly at rest and progresses to hemiparkinsonism. Scoliosis, scapular winging, raised shoulders, brisk reflexes and extensor plantars are frequently associated." "" + "obsolete rare parkinsonian syndrome due to intoxication" "True" "true" + "manganese poisoning" "Manganese poisoning is associated with chronic inhalation of manganese particles by individuals who work with manganese ore. Clinical features include confusion; hallucinations; and an extrapyramidal syndrome (parkinson disease, secondary) that includes rigidity; dystonia; retropulsion; and tremor. (Adams, Principles of Neurology, 6th ed, p1213)" "" + "carbon monoxide-induced parkinsonism" "" + "cyanide-induced parkinsonism" "Cyanide-induced parkinsonism is a rare parkinsonian syndrome due to intoxication which develops in individuals surviving an acute cyanide intoxication episode or due to chronic exposure to small cyanide doses. It presents several weeks after acute exposure with progressive typical clinical features of parkinsonism including bradykinesia, rigidity, dystonia, hypomimia, hypokinetic dysarthria, postural instability and retropulsion but no resting or postural tremor. Brain MRI reveals bilateral lesions in the pallidum, posterior putamen, substantia nigra, subthalamic nucleus, temporal and occipital cortex, and cerebellum." "" + "intellectual disability-microcephaly-phalangeal-facial abnormalities syndrome" "" + "obsolete rare tremor disorder" "True" "true" + "obsolete rare choreic movement disorder" "True" "true" + "postinfectious autoimmune disease with chorea" "True" + "Sydenham chorea" "A neurological disorder characterized by rapid, jerky, irregular, and involuntary movements (chorea), especially of the face and limbs. Additional symptoms may include muscle weakness, slurred speech, headaches, and seizures." "" + "hemidystonia-hemiatrophy syndrome" "Hemidystonia-hemiatrophy (HD-HA) is a rare dystonia, usually caused by a static cerebral injury occurring at birth or during infancy, that is characterized by a combination of hemidystonia (HD), involving one half of the body, and hemiatrophy (HA) on the same side as the HD." "" + "obsolete rare myoclonus" "True" "true" + "obsolete rare disease with myoclonus as a major feature" "True" "true" + "obsolete epilepsy and/or ataxia with myoclonus as major feature" "" "true" + "obsolete non progressive epilepsy and/or ataxia with myoclonus as a major feature" "True" "true" + "obsolete progressive epilepsy and/or ataxia with myoclonus as a major feature" "True" "true" + "obsolete rare paroxysmal movement disorder" "True" "true" + "hyperekplexia" "A neurologic disorder classically characterised by pronounced startle responses to tactile or acoustic stimuli and hypertonia" "" + "sporadic hyperekplexia" "" + "obsolete rare genetic parkinsonian disorder" "True" "true" + "obsolete rare parkinsonian syndrome due to genetic neurodegenerative disease" "True" "true" + "obsolete inherited tremor disorder" "" "true" + "obsolete rare genetic myoclonus" "" "true" + "obsolete rare genetic disease with myoclonus as a major feature" "True" "true" + "intellectual disability-short stature-hypertelorism syndrome" "Intellectual disability-short stature-hypertelorism syndrome is a rare genetic syndromic intellectual disability affecting males characterized by short stature, mild to moderate intellectual deficits, craniofacial dysmorphism (prominent broad 'square' forehead, hypertelorism, depressed nasal bridge, broad nasal tip and anteverted nares) and early hypotonia present only until the age of 2. There have been no further descriptions in the literature since the original article in 1991 and it has been suggested that this condition represents an example of FG syndrome." "" + "obsolete disease with diffuse palmoplantar keratoderma as a major feature" "True" "true" + "obsolete autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature" "True" "true" + "obsolete disease with focal palmoplantar keratoderma as a major feature" "A disease in which focal palmoplantar keratoderma is a major feature.." "True" "true" + "focal acral hyperkeratosis" "" + "obsolete obsolete disease with punctate palmoplantar keratoderma as a major feature" "A disease in which punctate palmoplantar keratoderma is a major feature.." "" "true" + "obsolete obsolete autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature" "" "true" + "obsolete autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature" "" "true" + "erythrokeratoderma variabilis progressiva" "A type of erythrokeratoderma characterized by the association of hyperkeratosis and erythema in persistent, although sometimes variable, circumscribed lesions. Progressive symmetric erythrokeratoderma (PSEK) and erythrokeratoderma variabilis (EKV) are probably no longer two distinctive diseases but rather the two clinical manifestations of a same disease, now known as EKVP." "" + "intellectual disability-polydactyly-uncombable hair syndrome" "Intellectual disability-polydactyly-uncombable hair syndrome is a multiple congenital anomalies/dysmorphic syndrome characterized by intellectual disability, postaxial polydactyly, phalangeal hypoplasia, 2-3 toe syndactyly, uncombable hair and facial dysmorphism (including frontal bossing, hypotelorism, narrow palpebral fissures, nasal bridge and lips, prominent nasal root, large abnormal ears with prominent antihelix, poorly folded helix, underdeveloped lobule and antitragus, and micrognathia evolving into prognatism). Cryptorchidism, conductive hearing loss and progressive thoracic kyphosis were also reported." "" + "methylcobalamin deficiency type cblDv1" "" + "vitamin B12-responsive methylmalonic acidemia, type cblDv2" "" + "inborn disorder of purine or pyrimidine metabolism" "" + "disorder of galactose metabolism" "" + "erythrocyte galactose epimerase deficiency" "" + "generalized galactose epimerase deficiency" "" + "glycogen storage disease due to glycogen synthase deficiency" "True" + "glycogen storage disease due to acid maltase deficiency, infantile onset" "Glycogen storage disease due to acid maltase deficiency, infantile onset is the most severe form of glycogen storage disease due to acid maltase deficiency, characterized by cardiomegaly with respiratory distress, muscle weakness and feeding difficulties. It is often fatal." "" + "glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form" "" + "glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form" "" + "glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form" "" + "glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form" "" + "glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form" "" + "glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form" "" + "glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form" "" + "obsolete glycerol kinase deficiency" "" "true" + "peroxisomal single enzyme/protein defect" "Any peroxisomal disease in which the cause of the disease is a defect in a single enyme or protein." "" + "obsolete disorder of lipid metabolism" "" "true" + "congenital systemic veins anomaly" "" + "congenital anomaly of the great veins" "" + "pancreatic colipase deficiency" "" + "combined pancreatic lipase-colipase deficiency" "\"Combined pancreatic lipase-colipase deficiency is a disorder of lipid absorption and transport characterized by steatorrhea with foul-smelling stools from birth, diminished serum carotene and vitamin E and a combined deficiency of the pancreatic enzymes lipase and colipase. Patients are otherwise healthy and develop normally with no apparent pancreatic disease. There have been no further descriptions in the literature since 1990." "" + "inborn disorder of fatty acid oxidation and ketone body metabolism" "" + "metabolic disease due to other fatty acid oxidation disorder" "True" + "gangliosidosis" "A group of autosomal recessive lysosomal storage disorders marked by the accumulation of gangliosides. They are caused by impaired enzymes or defective cofactors required for normal ganglioside degradation in the lysosomes. Gangliosidoses are classified by the specific ganglioside accumulated in the defective degradation pathway." "" + "Sandhoff disease, infantile form" "" + "Sandhoff disease, juvenile form" "" + "Sandhoff disease, adult form" "A Sandhoff disease that occurs in an adult." "" + "Tay-Sachs disease, b variant, infantile form" "" + "Tay-Sachs disease, b variant, juvenile form" "" + "Tay-Sachs disease, b variant, adult form" "" + "fixed subaortic stenosis" "Fixed subaortic stenosis (FSS) is a rare heart malformation characterized by the obstruction by membranous or fibromuscular tissue of the left ventricular outflow tract (LVOT) below the aortic valve, that occurs as an isolated lesion or in association with additional cardiac malformations (e.g. ventricular septal defect, patent ductus arteriosus, coarctation of the aorta), that presents in childhood with signs of LVOT obstruction (e.g. dyspnea, chest pain, syncope, palpitations) and that can potentially lead to life-threatening complications (e.g. aortic regurgitation, infective endocarditis). It comprises three anatomical subforms: discrete fixed membranous subaortic stenosis (membranous tissue encircling the LVOT), discrete fibromuscular subaortic stenosis (fibromuscular tissue encircling the LVOT) and tunnel subaortic stenosis (fibromuscular diffuse tunnel-like narrowing of the LVOT), the two latter forms being generally more severe than the membranous form." "" + "Tay-Sachs disease, B1 variant" "" + "metachromatic leukodystrophy, late infantile form" "" + "metachromatic leukodystrophy, adult form" "" + "glycoproteinosis" "" + "alpha-mannosidosis, infantile form" "" + "alpha-mannosidosis, adult form" "" + "aortic valve stenosis" "" + "intermediate severe Salla disease" "" + "disorder of O-N-acetylgalactosaminylglycan synthesis" "" + "disorder of GPI anchor biosynthesis" "A disease that has its basis in the disruption of GPI anchor biosynthetic process." "" + "obsolete Reye syndrome" "" "true" + "defect in V-ATPase" "" + "porphyrin metabolism disease" "A disease that has its basis in the disruption of porphyrin-containing compound metabolic process." "" + "bilirubin metabolism disease" "" + "disorder of metabolite absorption and transport" "" + "disorder of mineral absorption and transport" "" + "disorder of magnesium transport" "An acquired metabolic disease that is has its basis in the disruption of magnesium ion transport." "" + "post-bacterial disorder" "" + "Robinow-like syndrome" "Robinow-like syndrome is characterized by the association of the clinical features present in Robinow syndrome (short stature, mesomelic brachymelia, macrocephaly, and hypoplastic genitalia), with anterior chamber cleavage anomalies. It has been described in two sisters and is transmitted as an autosomal recessive trait." "" + "oral erosive lichen" "" + "nocardiosis" "Nocardiosis is a local (skin, lung, brain) or disseminated (whole body) acute, subacute, or chronic bacterial infection." "" + "obsolete rat-bite fever" "" "true" + "20p13 microdeletion syndrome" "20p13 microdeletion syndrome is a rare chromosomal anomaly characterized by developmental delay, mild to moderate intellectual disability, epilepsy, and unspecific dysmorphic signs. High palate, delayed permanent tooth eruption, hypoplastic fingernails, clinodactyly and short fingers have also been reported." "" + "12p12.1 microdeletion syndrome" "" + "developmental and speech delay due to SOX5 deficiency" "Developmental and speech delay due to SOX5 deficiency is a rare genetic syndromic intellectual disability characterized by mild to severe global developmental delay, intellectual disability and behavioral abnormalities, hypotonia, strabismus, optic nerve hypoplasia and mild facial dysmorphic features (down slanting palpebral fissures, frontal bossing, crowded teeth, auricular abnormalities and prominent philtral ridges). Other associated clinical features may include seizures and skeletal anomalies (kyphosis/scoliosis, pectus deformities)." "" + "congenital pancreatic cyst" "" + "Epstein-Barr virus-associated gastric carcinoma" "Epstein-Barr virus (EBV)-associated gastric carcinoma (EBVaGC) is a rare form of gastric carcinoma (seen in approximately 10% of cases) with a male predominance, characterized by a latent EBV infection in gastric carcinoma cells, diffuse-type histology, a proximal location (in the body and cardia of the stomach) and a relatively favorable prognosis." "" + "PENS syndrome" "PENS syndrome is a rare, genetic, neurocutaneous syndrome characterized by the presence of randomly distributed, small, white to yellowish, multiple, rounded or irregular polycyclically-shaped, epidermal keratotic papules and plaques of ''gem-like'' appearance with a rough surface, typically located on the trunk and proximal limbs, associated with variable neurological abnormalities, including psychomotor delay, epilepsy, speech and language impairment and attention deficit-hyperactivity disorder. Clumsiness, dyslexia and oftalmological abnormalities have also been reported." "" + "2q23.1 microduplication syndrome" "2q23.1 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 2, primarily characterized by global developmental delay, hypotonia, autistic-like features and behavioural problems. Craniofacial dysmorphism (arched eyebrows, hypertelorism, bilateral ptosis, prominent nose, wide mouth, micro/retrognathia) and an affable personality are also commonly associated. Minor digital anomalies (fifth finger clinodactyly and large, broad first toe) have occasionally been reported." "" + "erythroderma desquamativum" "" + "contractures - webbed neck - micrognathia - hypoplastic nipples syndrome" "" + "idiopathic linear interstitial keratitis" "Idiopathic linear interstitial keratitis is a rare, acquired ocular disease characterized by migratory or non-migratory, horizontal, linear, stromal infiltrates that may heal spontaneously. Minimal vascularization and scarring may be observed but vision loss is not associated." "" + "gastric adenocarcinoma and proximal polyposis of the stomach" "A rare hereditary gastric cancer characterized by proximal gastric polyposis and increased risk of early-onset, intestinal-type adenocarcinoma of the gastric body, with no duodenal or colorectal polyposis. This is an n-of-1 use case where only one patient or family has been described with this disorder." "" + "high bone mass osteogenesis imperfecta" "" + "7p22.1 microduplication syndrome" "7p22.1 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from a partial interstitial microduplication of the short arm of chromosome 7, characterized by intellectual disability, psychomotor and speech delays, craniofacial dysmorphism (including macrocephaly, frontal bossing, hypertelorism, abnormally slanted palpebral fissures, anteverted nares, low-set ears, microretrognathia) and cryptorchidia. Cardiac (e.g., patent foramen ovale and atrial septal defect), as well as renal, skeletal and ocular abnormalities may also be associated." "" + "marfanoid habitus-inguinal hernia-advanced bone age syndrome" "" + "Xq12-q13.3 duplication syndrome" "Xq12-q13.3 duplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome X, characterized by global developmental delay, autistic behavior, microcephaly and facial dysmorphism (including down-slanting palpebral fissures, depressed nasal bridge, anteverted nares, long philtrum, down-slanting corners of the mouth). Seizures have also been reported in some patients." "" + "obsolete ameloblastic carcinoma" "" "true" + "obsolete rare odontologic tumor" "Any of the forms of odontogenic neoplasm that have a rare incidence." "True" "true" + "Spigelian hernia-cryptorchidism syndrome" "" + "Meigs syndrome" "A rare syndrome affecting females. It is characterized by pleural effusion, ascites and non-malignant ovarian neoplasm. This syndrome usually follows a benign course. Prognosis is favorable following surgical resection of the ovarian mass." "" + "pseudo-Meigs syndrome" "" + "atypical Meigs syndrome" "" + "ovarian fibrothecoma" "A rare, benign, sex cord-stromal neoplasm, with a typically unilateral location in the ovary, characterized by mixed features of both fibroma and thecoma. Patients may be asymptomatic or may present with pelvic/abdominal pain and/or distension and, occasionally, with post-menopausal bleeding. Large tumors (>10cm) are often associated with pleural effusion and ascites (the Meigs syndrome triad)." "" + "fibrothecoma" "A sex cord-stromal tumor characterized by mixed features of both fibroma and thecoma." "" + "primary progressive apraxia of speech" "" + "autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome" "Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome is a rare neurologic disease characterized by global developmental delay, intellectual disability, multiple ischemic lesions in brain MRI, behavioral abnormalities, dystonia, choreic movements and pyramidal syndrome, facial dysmorphism (hypertelorism, arched palate, macroglossia), retinitis pigmentosa, scoliosis, seizures." "" + "intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome" "" + "growing teratoma syndrome" "A condition characterized by the presence of a growing mature teratoma in a patient during or after chemotherapy for a non-seminomatous germ cell tumor, with normal serum markers for human chorionic gonadotropin and alpha fetoprotein. Complete surgical resection is the preferred treatment." "" + "duplication of the pituitary gland" "" + "parkinsonism due to ATP13A2 deficiency" "" + "variant ABeta2M amyloidosis" "A rare form of amyloidosis characterized by accumulation and extensive visceral deposition of anamyloidogenic variant of beta 2 microglobulin leading to progressive gastrointestinal dysfunction, Sjögren syndrome and autonomic neuropathy." "" + "ABeta2M amyloidosis" "" + "severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion" "" + "segmental progressive overgrowth syndrome with fibroadipose hyperplasia" "" + "acquired porencephaly" "An instance of porencephaly that is acquired during the lifetime of the individual." "" + "primary systemic amyloidosis" "Primary systemic amyloidosis (PSA) is a form of AL amyloidosis caused by the aggregation and deposition of insoluble amyloid fibrils derived from misfolded monoclonal immunoglobulin light chains usually produced by a plasma cell tumor and characterized by multiple organ involvement." "" + "AL amyloidosis" "AL Amyloidosis is a plasma cell disorder characterized by the aggregation and deposition of insoluble amyloid fibrils derived from misfolding of monoclonal immunoglobulin light chains usually produced by a plasma cell tumor. It usually presents as primary systemic amyloidosis (PSA) with multiple organ involvement and less frequently as primary localized amyloidosis (PLA) restricted to a single organ." "" + "primary localized amyloidosis" "Primary localized amyloidosis is a form of AL amyloidosis caused by the aggregation of insoluble amyloid fibrils derived from misfolded monoclonal immunoglobulin light chains usually produced by a plasma cell tumor and characterized by localized amyloid deposition with clinical manifestations restricted to the organ involved, most frequently urinary tract (bladder), eye, respiratory tract (larynx, lungs), and skin." "" + "lethal arteriopathy syndrome due to fibulin-4 deficiency" "" + "atypical dentin dysplasia due to SMOC2 deficiency" "" + "obsolete obsolete disease with Cushing syndrome as a major feature" "A disease in which Cushing syndrome is a major feature." "" "true" + "obsolete functioning pituitary adenoma" "" "true" + "mixed functioning pituitary adenoma" "" + "somatomammotropinoma" "" + "silent pituitary adenoma" "" + "non-functioning pituitary adenoma" "A hormone producing or non-producing pituitary gland adenoma not associated with a hormonal syndrome." "" + "null pituitary adenoma" "" + "autosomal dominant proximal renal tubular acidosis" "Autosomal dominant proximal renal tubular acidosis (AD pRTA) is a form of proximal renal tubular acidosis (pRTA) characterized by an isolated defect in the proximal tubule leading to the decreased reabsorption of bicarbonate and consequently causing urinary bicarbonate wastage. Mild growth retardation and reduced bone density are extra-renal complications." "" + "severe Canavan disease" "Severe Canavan disease (CD) is a rapidly progressing neurodegenerative disorder characterized by leukodystrophy with macrocephaly, severe developmental delay and hypotonia." "" + "mild Canavan disease" "Mild Canavan disease (CD) is a neurodegenerative disorder characterized by mild speech delay or motor development." "" + "mycobacterium xenopi infection" "A disease caused by infection with Mycobacterium xenopi." "" + "primary hypereosinophilic syndrome" "" + "secondary hypereosinophilic syndrome" "" + "lymphocytic hypereosinophilic syndrome" "" + "erythrokeratoderma en cocardes" "Erythrokeratoderma 'en cocardes' is a rare genodermatosis characterised by circumscribed target-like (or 'en cocardes') erythematous hyperkeratotic lesions. These lesions, which remit and recur, affect the trunk and extremities and are accompanied by scaly plaques evocative of erythrokeratoderma variabilis. Onset usually occurs at birth or during early childhood. Only few cases have been described. Transmission is autosomal dominant." "" + "multiple sclerosis-ichthyosis-factor VIII deficiency syndrome" "Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome is characterized by the association of multiple sclerosis with lamellar ichthyosis and hematological anomalies (beta thalassemia minor and a quantitative deficit of factor VIII-von Willebrand complex). Other clinical manifestations may include eye involvement (optic atrophy, diplopia), neuromuscular involvement (ataxia, pyramidal syndrome, gait disturbance) and sensory disorder. There have been no further descriptions in the literature since 1992." "" + "classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form" "The salt wasting form of classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classical 21 OHD CAH) is characterized by virilization of the external genitalia in females, hypocortisolism, precocious pseudopuberty and renal salt loss due to aldosterone deficiency." "" + "classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form" "The simple virilizing form of classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classical 21 OHD CAH) is characterized by genital ambiguity and virilization of the external genitalia in females, hypocortisolism and precocious pseudopuberty without salt-wasting." "" + "Sezary syndrome" "Sezary syndrome (SS) is an aggressive form of cutaneous T-cell lymphoma characterized by a triad of erythroderma, lymphadenopathy and circulating atypical lymphocytes (Sezary cells)." "" + "obsolete partial deletion of the short arm of chromosome 12" "" "true" + "Siegler-Brewer-Carey syndrome" "Siegler-Brewer-Carey syndrome is characterized by cataracts, otitis media, intestinal malabsorption, chronic respiratory infection, and failure to thrive. It has been recently described in two sibs born to consanguineous parents. The patients also developed recurrent pneumonia and progressive azotemia leading to end-stage renal disease. Both children died of overwhelming infection (sepsis, meningitis). An autosomal recessive mode of inheritance was proposed." "" + "sirenomelia" "Sirenomelia is a rare, genetic, developmental defect during embryogenesis disorder characterized by fusion of the lower limbs and associated with some degree of lower extremity reduction and persistent vitelline artery. Patients also present severe malformations of the musculoskeletal system (e.g. sacral agenesis), as well as the urogenital and lower gastrointestinal tracts (e.g. renal agenesis, absent bladder, rectal/anal atresia, and absent internal genitalia). Most cases are stillborn, or die during, or shortly after, birth." "" + "erythrokeratodermia variabilis" "A rare genetic chronic skin disorder characterized by hyperkeratosis and transient erythema. Mutations in GJB3 and GJB4 genes have been identified as causative agents." "" + "infantile spasms-broad thumbs syndrome" "A rare neurologic disorder characterized by profound developmental delay, facial dysmorphism (i.e. microcephaly, large anterior fontanel, hypertelorism, downslanting palpebral fissures, beaked nose, micrognathia), broad thumbs and flexion and/or extension spasms. Bilateral cataracts, hypertrophic cardiomyopathy and hydrocele have also been reported. EEG shows hypsarrhythmic features and MRI may reveal partial agenesis of the corpus callosum, mild brain atrophy and/or ventriculomegaly. There have been no further descriptions in the literature since 1990." "" + "obsolete T-b+ severe combined immunodeficiency" "" "true" + "X-linked spasticity-intellectual disability-epilepsy syndrome" "" + "spina bifida-hypospadias syndrome" "Spina bifida-hypospadias syndrome is a rare developmental defect during embryogenesis characterized by the specific association of glandular hypospadias and lumbo-sacral spina bifida. Affected individuals may or may not present additional congenital anomalies, such as hydrocephaly, microstomia, patent ductus arteriosus, cryptorchidism, intestinal malrotation, rocker-bottom feet, and hypertrichosis." "" + "colchicine poisoning" "A potentially life-threatening poisoning, due to ingestion of the drug or consumption of the plant Colchicum autumnale, that usually begins with gastrointestinal symptoms (e.g. abdominal pain, nausea, vomiting, and diarrhea, that cause severe dehydration) and an initial leukocytosis leading to marrow failure (24 hours after ingestion), followed by potentially fatal multi-organ failure with mental status change, oliguric renal failure, disseminated intravascular coagulation, electrolyte imbalance, acid-base disturbance, cardiac failure/arrest and shock within 1-3 days." "" + "methanol poisoning" "Methanol poisoning is a rare poisoning resulting in elevated anion gap metabolic acidosis, due to the alcohol dehydrogenase (ADH)-mediated production of formic acid (which is poisonous to the central nervous system), and characterized by dizziness, nausea, vomiting, confusion, metabolic acidosis, visual disturbances (which if left untreated can lead to blindness), coma, and death (due to respiratory failure)." "" + "ethylene glycol poisoning" "Ethylene glycol poisoning is a rare poisoning resulting in elevated anion gap metabolic acidosis, due to the production of glycolic acid, glyoxylic acid, and oxalic acid by alcohol dehydrogenase (ADH) in the liver when ethylene glycol is metabolized, characterized initially by euphoria, slurred speech, encephalopathy, coma and seizures, and followed by late manifestations such as tachycardia, arrhythmias, myocardial depression, hemodynamic imbalance and, finally, acute renal failure." "" + "paraquat poisoning" "Paraquat poisoning is a rare intoxication with paraquat (a non-selective bipyridilium herbicide that has been banned in Europe), usually occurring through ingestion of the poison, and that presents with caustic injury of the oral cavity and pharynx, as well as nausea, vomiting, epigastric pain, lethargy, loss of consciousness and fever. Patients may develop potentially life-threatening complications such as hepatic dysfunction, acute tubular necrosis and renal insufficiency, and respiratory failure (due to pulmonary fibrosis) due to its inherent toxicity and lack of effective treatment. Intoxication via inhalation, injection and dermal or mucus contact have also been reported." "" + "digitalis poisoning" "Digitalis (digoxin) poisoning is a potentially life-threatening poisoning that provokes conduction disturbances, characterized by increased automaticity and decreased conduction. Acute poisoning presents with the common initial manifestations of nausea and vomiting, cardiovascular manifestations (bradycardia, heart block and a variety of dysrhythmias), central nervous system manifestations (lethargy, confusion and weakness) and hyperkalemia. Chronic poisoning is more insidious, manifesting with gastrointestinal symptoms, altered mental status, and visual disturbances." "" + "congenital pulmonary veins atresia or stenosis" "Congenital pulmonary vein (PV) stenosis or atresia is a rare progressive life-threatening great vessels anomaly characterized by narrowing and obstruction of one or more normally positioned PV at their junction with the left atrium, that usually presents during early infancy with dyspnea, tachypnea, and repeated pulmonary infections, and eventually, when all PV of one lung are affected, results in pulmonary hypertension (PH) and consecutive pulmonary arterial hypertension (PAH). It may manifest as an isolated lesion or associated with other cardiac defects such as congenital pulmonary venous return anomaly and septal defects." "" + "subpulmonary stenosis" "" + "distal 17p13.1 microdeletion syndrome" "Distal 17p13.1 microdeletion syndrome is a rare chromosomal anomaly syndrome characterized by mild global developmental delay/intellectual disability with poor to absent speech, dysmorphic features (long midface, retrognathia with overbite, protruding ears), microcephaly, failure to thrive, wide-based gait and a body posture with knee and elbow flexion and hands held in a midline." "" + "diencephalic-mesencephalic junction dysplasia" "Diencephalic-mesencephalic junction dysplasia is a rare, genetic, non-syndromic cerebral malformation characterized by severe intellectual disability, progressive postnatal microcephaly, axial hypotonia, spastic quadriparesis, seizures and facial dysmorphism (bushy eyebrows, hairy forehead, broad nasal root, long flat philtrum, V-shaped upper lip). Additionaly, talipes equinovarus, non-obstructive cardiomyopathy, persistent hyperplastic primary vitreous, obstructive hydrocephalus and autistic features may also be associated. On brain magnetic resonance imaging, the 'butterfly sign' is characterisitcally observed and cortical calcifications, agenesis of the corpus callosum, ventriculomegaly, brainstem dysplasia and cerebellar vermis hypoplasia have also been described." "" + "chondroectodermal dysplasia with night blindness" "Chondroectodermal dysplasia with night blindness is a rare genetic bone development disorder characterized by proportionate short stature, nail dysplasia (enlarged, convex, hypertrophic nails), hypodontia and night blindness. Osteopenia, a tendency to present fractures, talipes varus with abnormal gait, ear infections, and watering eyes due to narrow tear ducts are frequently associated. Radiologically patients present delayed bone age on wrist X-rays, platyspondyly, and broad metaphyses of humeri with dense and thickened growth plates." "" + "supravalvular pulmonary stenosis" "" + "bilateral massive adrenal hemorrhage" "" + "Lujo hemorrhagic fever" "Lujo hemorrhagic fever, caused by the Lujo virus (a newly discovered Old World arenavirus) is a zoonotic disease from Zambia, Africa, whose reservoir is unknown and is characterized by fever and hemorrhagic manifestations with an extremely high fatality rate of 80% (in the 5 reported cases to date) and a moderate to high level of nosocomial transmission." "" + "obsolete Ebola hemorrhagic fever" "" "true" + "Argentine hemorrhagic fever" "Argentine hemorrhagic fever (AHF), caused by the Junin virus (JUNV), is an acute viral hemorrhagic disease characterized by initial fever and malaise followed by gastrointestinal symptoms and in some cases hemorrhagic and neurological manifestations." "" + "Bolivian hemorrhagic fever" "Bolivian hemorrhagic fever (BHF), caused by the Machupo virus (MACV), is a severe acute viral hemorrhagic fever characterized by fever, myalgia, and arthralgia followed by hemorrhagic and neurological manifestations." "" + "Venezuelan hemorrhagic fever" "Venezuelan hemorrhagic fever (VHF), caused by the Guanarito virus, is a viral hemorrhagic disease characterized by fever, headache, arthralgia, sore throat, convulsions, and hemorrhagic manifestations." "" + "Brazilian hemorrhagic fever" "Brazilian hemorrhagic fever, caused by the Sabia virus (a newly discovered arenavirus), is a viral hemorrhagic fever, believed to originate from Sao Paulo, Brazil, with only 3 reported cases (2 of which were due to laboratory accidents) to date, characterized by fever, nausea vomiting myalgia tremors, and hemorragic manifestations such as conjunctival petechia and haematemesis, leading potentially to shock, coma and death." "" + "Chapare hemorrhagic fever" "Chapare hemorrhagic fever, caused by the Chapare virus (a new arenavirus), discovered from a small outbreak in Cochabamba, Bolivia between 2003 and 2004, is an acute viral hemorrhagic fever characterized by fever, myalgia, arthralgia, and multiple hemorrhagic signs. About a third of untreated cases go on to develop more severe symptoms with delirium, coma and convulsions and death (in one case). No other cases have been reported since." "" + "hantavirus pulmonary syndrome" "An infection caused by Hantaviruses. It manifests with flu-like symptoms but it rapidly progresses to life-threatening respiratory problems." "" + "Rift valley fever" "Rift Valley fever (RVF), caused by the Rift Valley fever virus (RVFV), is an arbovirus characterized by a usually self-limiting febrile illness but that in some cases can also manifest with thrombosis, vision loss, hemorrhages and/or neurological symptoms." "" + "Omsk hemorrhagic fever" "Omsk hemorrhagic fever (OHF), caused by Omsk hemorrhagic fever virus (OHFV), is a zoonotic disease characterized by fever, nausea, myalgia and moderately severe hemorrhagic manifestations as well as in some cases meningitis, pneumonia and nephrosis." "" + "obsolete multilocular cystic clear cell renal cell neoplasm of low malignant potential" "" "true" + "renal cell carcinoma associated with neuroblastoma" "Renal cell carcinoma that develops in patients who are long-term survivors of childhood neuroblastoma." "" + "" "true" + "obsolete mucinous tubular and spindle cell renal carcinoma" "" "true" + "tubulocystic renal cell carcinoma" "Tubulocystic renal cell carcinoma is an extremely rare subtype of renal cell carcinoma most frequently characterized by a small, solitary, well-circumscribed, unencapsulated renal tumor composed of multiple small to medium-sized cysts with a white or gray, spongy (\"bubble wrap-like\") cut surface. Patients are usually asymptomatic or could manifest with abdominal pain, abdominal distension and/or hematuria. Progression, recurrence and metastasis rarely occur although lymph node, bone, pleura and liver mestatsis have been reported." "" + "autosomal recessive myogenic arthrogryposis multiplex congenita" "Autosomal recessive myogenic arthrogryposis multiplex congenita is a rare inherited neuromuscular disease characterized by prenatal presentation (usually in the second trimester) of reduced fetal movements and abnormal positioning resulting in joint abnormalities that may involve both lower and upper extremities and is usually symmetric, severe hypotonia at birth with bilateral club foot, motor development delay, mild facial weakness without opthalmoplegia, absent deep tendon reflexes, normal motor and sensory nerve conduction velocities, no cerebellar or pyramidal involvement, and progressive disease course with loss of ambulation after the first decade of life." "" + "acute myeloid leukemia with CEBPA somatic mutations" "Acute myeloid leukemia with CEBPA somatic mutations is a subtype of acute myeloid leukemia with recurrent genetic abnormalities, characterized by clonal proliferation of myeloid blasts harboring somatic mutations of the CEBPA gene in the bone marrow, blood and, rarely, other tissues. It can present with anemia, thrombocytopenia, and other nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly)." "" + "mendelian susceptibility to mycobacterial diseases due to a complete deficiency" "" + "autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency" "Autosomal recessive form of mendelian susceptibility to mycobacterial diseases due to a partial deficiency." "True" + "mendelian susceptibility to mycobacterial diseases due to a partial deficiency" "" + "autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency" "Autosomal dominant (AD) mendelian susceptibility to mycobacterial diseases (MSMD) due to a partial deficiency describes a group of variants of MSMD due to dominantly inherited partial deficiencies in interferon gamma receptor 1 (IFN-gammaR1), IFN-gammaR2, signal transducer and activator of transcription 1 (STAT1) or interferon regulator factor 8 (IRF8)." "True" + "autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency" "Mendelian susceptibily to mycobacterial diseases (MSMD) due to complete interferon gamma receptor 2 (IFN-gammaR2) deficiency is a genetic variant of MSMD characterized by a complete deficiency in IFN-gammaR2, leading to an undetectable response to IFN-gamma, and consequently, to severe and often fatal infections with bacillus Calmette-GuC)rin (BCG) and other environmental mycobacteria (EM)." "" + "autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency" "A genetic variant of Mendelian susceptibility to mycobacterial diseases characterized by a partial deficiency in IFN-gammaR1, leading to a residual response to IFN-gamma and, consequently, to recurrent, moderately severe infections with bacillus Calmette-Guerin (BCG) and other environmental mycobacteria (EM)." "" + "autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency" "A genetic variant of Mendelian susceptibility to mycobacterial diseases characterized by a partial deficiency in IFN-gammaR2, leading to a residual response to IFN-gamma and consequently to recurrent, moderately severe infections with bacillus Calmette-Guerin (BCG) and other environmental mycobacteria (EM)." "" + "autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency" "A genetic variant of mendelian susceptibility to mycobacterial diseases characterized by a partial deficiency in IFN-gammaR2, leading to impaired response to IFN-gamma and, consequently, to recurrent, moderately severe infections with bacillus Calmette-Guerin (BCG) and other environmental mycobacteria (EM)." "" + "steroid dehydrogenase deficiency-dental anomalies syndrome" "Steroid dehydrogenase deficiency-dental anomalies syndrome is an autosomal recessive liver disease which was associated with numerical dental aberrations in a consanguineous Arabi Saudi family. This association suggests that the same gene is involved in both defects. General hypomineralisation and enamel hypoplasia found in this family is thought to be secondary to malabsorption due to liver disease." "" + "amyloidosis cutis dyschromia" "Amyloidosis cutis dyschromia is a rare primary cutaneous amyloidosis characterized by macular or reticulate hyperpigmentation with symmetrically distributed guttate hypo- and hyperpigmented lesions which progress gradually over the years to involve almost the entire body (with relative sparing of the face, hands, feet and neck). Patients are usually asymptomatic, however mild pruritus may be associated. Amyloid deposition in the papillary dermis is observed on skin biopsy. Systemic amyloidosis is not present and association with generalized morphea, atypical Parkinsonism, spasticity, motor weakness or colon carcinoma is rare." "" + "primary lymphoma of the conjunctiva" "Primary lymphoma of the conjunctiva is an extremely rare clonal lymphoid proliferation of the ocular surface, with an indolent course. Clinically it presents with treatment-resistant conjunctivitis, ptosis, excessive tear production or as a painless, salmon-pink, ''fleshy'' patch, with a smooth or multinodular surface, on the bulbar conjunctiva. Histologically it is usually B-cell Non-Hodgkin lymphoma (most often extranodal marginal zone B-cell lymphoma, followed by follicular and diffuse large B-cell lymphoma), with conjunctival T-cell Non-Hodgkin lymphoma being very rare." "" + "obsolete hyperekplexia" "" "true" + "obsolete cleft lip/palate-ectodermal dysplasia syndrome" "" "true" + "pure or complex hereditary spastic paraplegia" "" + "maternally-inherited spastic paraplegia" "A rare, genetic, complex hereditary spastic paraplegia disorder characterized by adulthood-onset of slowly progressive, bilateral, mainly lower limb spasticity and distal weakness associated with lower limb pain, hyperreflexia, and reduced vibration sense. Axonal neuropathy is frequently observed on electromyography and nerve conduction examination." "" + "white matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome" "White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome is a very rare neurological condition. The few patients described in the medical literature were characterized by brain anomalies; an unusual face with broad nasal root, wide spaced eyes (hypertelorism) and a very small chin (micrognathia); failure to thrive; severe intellectual disability ;and lack of muscle tone (hypotonia). Exams of the brain showed a poor development (hypoplasia) of the pale part of the brain known as white matter, and an absent or abnormal corpus callosum (nerve fibers joining the two hemispheres of the brain). Only a few cases have being described. The cause is unknown but may be related to a disorder of axonal development. The described cases seem to be inherited in an autosomal recessive or X-linked way. Corpus callosum agenesis is one of the more frequent congenital malformations. It can be either asymptomatic or associated with intellectual disability, epilepsy, or psychiatric syndromes. It can be part of several genetic syndromes, such as Aicardi syndrome, Andermann syndrome and Apert syndrome, trisomies 13, 18 ; or result from metabolic causes; drugs (cocaine); or viral infection (influenza). Many patients with corpus callosum anomalies have other brain anomalies, including white matter hypoplasia. There is no information on specific treatment for this condition." "" + "deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome" "Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome is characterised by sensorineural deafness, bilateral synostosis of the 4th and 5th metacarpals and metatarsals, genital anomalies (hypospadias in males), psychomotor delay and abnormal dermatoglyphics. So far, it has been described in two unrelated patients. Facial dysmorphism was noted in both patients (prominent forehead, ear anomalies, facial asymmetry and an open mouth appearance)." "" + "hearing loss-familial salivary gland insensitivity to aldosterone syndrome" "Hearing loss-familial salivary gland insensitivity to aldosterone syndrome is characterised by bilateral moderate-to-severe sensorineural hearing loss and salivary gland insensitivity to aldosterone resulting in hyponatremia. It has been described in two brothers. Transmission appeared to be autosomal recessive." "" + "central nervous system calcification-deafness-tubular acidosis-anemia syndrome" "This syndrome is characterised by progressive calcification of the brain and spinal cord, growth retardation, psychomotor anomalies, deafness and anaemia. Renal tubular acidosis was found in one patient. To date, this syndrome has been described in only two patients from one family." "" + "T-cell immunodeficiency with epidermodysplasia verruciformis" "T-cell immunodeficiency with epidermodysplasia verruciformis is a rare primary immunodeficiency characterized by increased susceptibility to infection by human papillomavirus, presenting in childhood with disseminated flat wart-like cutaneous lesions. Burkitt lymphoma has also been reported. Whilst total T-cell counts are normal, there is impaired TCR signaling, profound peripheral naive T-cell lymphopenia with memory T-cells displaying an exhaustion phenotype." "" + "multiple paragangliomas associated with polycythemia" "" + "severe lateral tibial bowing with short stature" "Severe lateral tibial bowing with short stature is a rare, genetic, primary bent bone dysplasia characterized by significant, uni-/bilateral, lateral tibial bowing localized to the distal two-thirds of the tibia, with respective cortical thickening and thinning of the inner and outer tibial curve, loss of normal trabecular bone, bilateral abnormalities of the tibial epiphyses and growth plates, as well as foot abnormalities, including abnormally high arches. Affected individuals have short stature with absence of other skeletal abnormalities." "" + "9p13 microdeletion syndrome" "9p13 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from a partial interstitial deletion of the short arm of chromosome 9, characterized by mild to moderate developmental delay, hand tremors, myoclonic jerks, attention deficit-hyperactivity disorder and a social personality. Patients also present bruxism, short stature and minor facial dysmorphic features (e.g., bilateral epicantic folds, broad, flat nasal bridge, anteverted nares, low-set ears micro/retro-gnathia)." "" + "congenital achiasma" "Congenital achiasma is a rare, genetic, non-syndromic cranial nerve and nuclear aplasia malformation characterized by the congenital absence of the optic chiasm, resulting from the failure of the optic nerve fibers to cross over and decussate to the contralateral hemisphere, leading to decreased vision, strabismus and congenital nystagmus in infancy." "" + "mixed sclerosing bone dystrophy with extra-skeletal manifestations" "" + "hereditary inclusion body myopathy type 4" "Hereditary inclusion body myopathy type 4 is a rare non-dystrophic myopathy characterized by slowly progressive muscular weakness and atrophy initially involving proximal lower limbs and hip girdle and later on shoulder girdle, proximal upper limbs and axial muscles. Ambulation is usually preserved. Congophilic inclusions with cytoplasmic inclusions of 15-21 nm filaments on electron microscopy are revealed in muscle biopsy." "" + "muscular hypertrophy-hepatomegaly-polyhydramnios syndrome" "" + "hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation" "Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation is a mitochondrial oxidative phosphorylation disorder characterized by hypertrophic and dilated cardiomyopathy, failure to thrive, myopathy with generalized hypotonia and increased creatine kinase, developmental delay and/or regression with cerebral atrophy on brain MRI, renal manifestations including chronic renal failure, renal tubular acidosis and lactic acidosis. Additional clinical features include seizures and respiratory failure." "" + "aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome" "Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by moderate to severe intellectual disability, congenital aphonia, hearing loss, optic atrophy, retinal dystrophy, broad thumbs and duplicated halluces. Facial dysmorphism (incl. thick eyebrows, ptosis, long, downslanting palpebral fissures, microstomia, low-set, posteriorly rotated ears) and genital abnormalities are also associated." "" + "hyperinsulinism due to HNF1A deficiency" "Hyperinsulinism due to HNF1A deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI), characterized by transient or persistent hyperinsulinemic hypoglycemia (HH) in infancy that is responsive to diazoxide, evolving in to maturity-onset diabetes of the young subtype 1 (MODY-1) later in life." "" + "benign Samaritan congenital myopathy" "Benign Samaritan congenital myopathy is a rare, genetic, skeletal muscle disease characterized by severe neonatal hypotonia with respiratory insufficiency, delay in motor milestones, and dysmorphic features including bitemporal narrowing, epicanthal folds and hypertelorism. Affected individuals show gradual improvement in hypotonia and muscle weakness within the first two years of life resulting in minimal clinical manifestations in adulthood." "" + "autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain" "" + "obsolete X-linked cleft palate and ankyloglossia" "" "true" + "classic multiminicore myopathy" "" + "autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation" "Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation is a rare form of axonal peripheral sensorimotor neuropathy characterized by classical CMT2 signs and symptoms (progressive weakness and atrophy of distal limb muscles, mild sensory deficits of position, vibration and pain/temperature, pes cavus, and symmetrically absent or reduced muscle and sensory action potentials with relatively preserved nerve conduction velocities in neurophysiological studies) as well as pyramidal tract involvement (spasticity, hyperreflexia). Spasticity and pain may be the presenting symptoms." "" + "chikungunya" "An infection that is caused by the Chikungunya virus, which is transmitted by mosquitoes; it is characterized by fever and severe arthralgia." "" + "Hendra virus infection" "Hendra virus infection is a rare viral infection disorder caused by the Hendra virus characterized by onset of flu-like symptoms (fever, myalgia, headaches, lethargy) approximately one week after having been in close contact with bodily fluids of infected horses. Neurological manifestations (e.g. vertigo, confusion, ataxia) and progressive respiratory failure, leading to death, have also been reported." "" + "autoerythrocyte sensitization syndrome" "" + "invasive non-typhoidal salmonellosis" "Invasive non-typhoidal salmonellosis (iNTS) is a rare bacterial infectious disease caused by extraintestinal infection of non-typhoidal serotypes of Salmonella enterica in patients with underlying HIV infection, malaria or malignancy. It has a high mortality rate and patients typically present with fever, pallor and respiratory signs (cough, tachnypnea, pneumonia). Gastrointestinal manifestations (diarrhea, vomit, abdominal pain) are not common. Occasionally, organ absseses, septic shock and meningitis may be observed." "" + "ABetaL34V amyloidosis" "Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Piedmont type is a form of HCHWA characterized by an age of onset between 50-70 years of age, recurrent lobar intracerebral hemorrhages and cognitive decline." "" + "ABeta amyloidosis, Iowa type" "Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Iowa type is a form of HCHWA characterized by age of onset between 50-66 years of age, memory impairment, myoclonic jerks, expressive dysphagia, short-stepped gait, personality changes and lobar intracerebral hemorrhages." "" + "ABeta amyloidosis, Italian type" "Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Italian type is a form of HCHWA characterized by an age of onset of 50 years of age, dementia and lobar intracerebral hemorrhage." "" + "ABetaA21G amyloidosis" "Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Flemish type is a form of HCHWA characterized by an age of onset of 45 years of age, progressive Alzheimer's disease-like dementia and lobar intracerebral hemorrhage in some patients." "" + "ABeta amyloidosis, Arctic type" "Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Arctic type is a form of HCHWA characterized by an age of onset of 54-61 years and progressive Alzheimer's disease-like dementia, without intracerebral hemorrhages." "" + "mixed autoinflammatory and autoimmune syndrome" "True" + "magic syndrome" "" + "obsolete JMP syndrome" "" "true" + "obsolete CANDLE syndrome" "" "true" + "46,XX disorder of sex development induced by androgens excess" "" + "46,XX disorder of sex development induced by endogenous maternal-derived androgen" "" + "46,XX disorder of sex development induced by maternal-derived androgen" "" + "46,XX disorder of sex development induced by exogenous maternal-derived androgen" "" + "syndrome with 46,XX disorder of sex development" "True" + "testicular agenesis" "" + "46,XY ovotesticular disorder of sex development" "46,XY ovotesticular disorder of sex development is a rare, genetic disorder of sex development characterized by either the coexistence of both male and female reproductive gonads or, more frequently, by the presence of one or both gonads containing a mixture of both testicular and ovarian tissue (ovotestes) in an individual with a normal male 46, XY karyotype. External genitalia are usually ambiguous, but can range from normal male to normal female and if a uterus and/or fallopian tubes are present, they are generally hypoplastic. Cryptorchidism, hypospadias, infertility and increased risk of gonadal tumours are frequently associated." "" + "46,XY disorder of sex development due to impaired androgen production" "True" + "46,XY disorder of sex development due to a cholesterol synthesis defect" "True" + "46,XY disorder of sex development due to a testosterone synthesis defect" "True" + "classic congenital lipoid adrenal hyperplasia due to STAR deficency" "" + "non-classic congenital lipoid adrenal hyperplasia due to STAR deficency" "" + "46,XY disorder of sex development induced by maternal-exposure to endocrine disruptors" "" + "obsolete disorder of sex development of gynecological interest" "" "true" + "obsolete 46,XY disorder of sex development of gynecological interest" "" "true" + "obsolete syndrome with disorder of sex development of gynecological interest" "" "true" + "syngnathia multiple anomalies" "" + "syngnathia-cleft palate syndrome" "" + "obsolete humeroradial synostosis" "" "true" + "familial lambdoid synostosis" "Familial lambdoid synostosis is a rare, genetic cranial malformation characterized by unilateral or bilateral synostosis of the lambdoid suture in multiple members of a single family. Unilateral cases typically present ipsilateral occipitomastoid bulge, compensatory contralateral parietal and frontal bossing, displacement of one ear, lateral deviation of jaw and compensatory deformation of cervical spine while bilateral cases usually manifest with flat and widened occiput, displacement of both ears and frequent occurrence of raised intracranial pressure." "" + "syringomyelia" "Syringomyelia is characterised by cerebrospinal fluid (CSF)-filled cavities (syrinx) inside the spinal cord, either as a result of a known cause (secondary syringomyelia, SS) or, more rarely, due to an unknown cause (primary syringomyelia, PS)." "" + "multifocal atrial tachycardia" "Multifocal atrial tachycardia is a rare supraventricular arrhythmia in neonates and young infants that is characterized by multiple P waves with varying P wave morphology and is usually asymptomatic." "" + "His bundle tachycardia" "His bundle tachycardia is a very rare congenital genetic tachyarrhythmia characterized by incessant tachycardia and high morbidity and mortality." "" + "polymorphic ventricular tachycardia" "A ventricular tachycardia that is irregular in rate and rhythm." "" + "Takayasu arteritis" "Takayasu arteritis (TAK) is a rare inflammatory large-vessel vasculitis primarily affecting the aorta and its major branches, but also other large vessels, causing stenosis, occlusion, or aneurysm." "" + "autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis" "" + "cerebral sinovenous thrombosis" "A rare but serious cerebrovascular disorder involving thrombosis of the cerebral venous system. It affects children from the newborn period through childhood and adolescence. In childhood CSVT, acute infections of the head and neck such as mastoiditis are most common, followed by chronic underlying diseases such as nephrotic syndrome, cancer, and inflammatory bowel disease. Signs and symptoms are also age related. Seizures and altered mental status are the commonest manifestations in newborns. Headache, vomiting, and lethargy, sometimes with 6th nerve palsy, are the most common symptoms in children and adolescents." "" + "severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency" "" + "spondylocostal dysostosis-hypospadias-intellectual disability syndrome" "" + "obsolete blepharophimosis - intellectual disability syndrome due to UBE3B deficiency" "" "true" + "telecanthus-hypertelorism-strabismus-pes cavus syndrome" "Telecanthus-hypertelorism-strabismus-pes cavus syndrome is characterized by telecanthus, hypertelorism, strabismus, pes cavus and other variable anomalies. It has been described in a father and his son. The son also had hypospadias, bilateral inguinal hernia, clinodactyly and camptodactyly of the fingers, and radiographic findings including flared metaphyses of the long bones and osteopenia." "" + "fatty acid hydroxylase-associated neurodegeneration" "Fatty acid hydroxylase-associated neurodegeneration (FAHN) is a very rare, autosomal recessive form of neurodegeneration with brain iron accumulation (NBIA) characterized by childhood-onset focal dystonia, progressive spastic paraplegia that progresses to tetra paresis, ataxia, dysarthria, intellectual decline, and oculomotor disturbances (optic atrophy), accompanied by iron deposition in the globus pallidus." "" + "hereditary thrombocytosis with transverse limb defect" "Thrombocythemia with distal limb defects is a rare, genetic syndrome with limb reduction defects characterized by thrombocytosis, unilateral transverse limb defects (ranging from absence of phalanges to absence of hand or forearm) and splenomegaly." "" + "inverse Klippel-Trenaunay syndrome" "" + "limbic encephalitis with DPP6 antibodies" "" + "acute megakaryoblastic leukemia without down syndrome" "" + "acute megakaryoblastic leukemia" "Acute megakaryoblastic leukemia (AMKL) is a form of acute myeloid leukemia (AML) that occurs predominantly in childhood and particularly in children with Down syndrome (DS-AMKL). Nonspecific symptoms may be irritability, weakness, and dizziness while specific symptoms include pallor, fever, mucocutaneous bleeding, hepatosplenomegaly, neurological manifestations and rarely lymphadenopathy. Acute panmyelosis with myelofibrosis may also be associated with AMKL. In contrast to DS-AMKL (around 80 % survival), non-DS-AMKL is an AML subgroup associated with poor prognosis." "" + "spastic paraplegia-Paget disease of bone syndrome" "Spastic paraplegia-Paget disease of bone syndrome is an extremely rare, complex form of hereditary spastic paraplegia characterized by a slowly progressive spastic paraplegia (with increased muscle tone, decreased strength in the anterior tibial muscles and hyperreflexia in the lower extremities with Babinski sign) presenting in adulthood, associated with Paget disease of the bone. Cognitive decline, dementia and myopathic changes at muscle biopsy have not been reported." "" + "adult-onset distal myopathy due to VCP mutation" "Adult-onset distal myopathy due to VCP mutation is a rare, genetic distal myopathy disorder characterized by middle age-onset of distal leg muscle weakness, atrophy in the anterior compartment resulting in foot drop, without proximal or scapular skeletal muscle weakness. Rapidly progressive dementia, Paget disease of bone and hand weakness have been reported. Muscle biopsy shows pronounced myopathic changes with rimmed vacuoles." "" + "mosaic genome-wide paternal uniparental disomy" "" + "autosomal uniparental disomy" "True" + "idiopathic giant cell myocarditis" "" + "non-hypoproteinemic hypertrophic gastropathy" "Non-hypoproteinemic hypertrophic gastropathy is a rare gastroesophageal disease characterized by diffusely enlarged gastric folds, excessive mucus secretion, normal serum protein and gastric TGF-alpha levels. Patients typically present anemia, abdominal pain not related to eating or bowel habits and absence of peripheral edema." "" + "juvenile overlap myositis" "Juvenile overlap myositis is a rare juvenile idiopathic inflammatory myopathy characterized by the association of inflammatory myositis (manifesting with acral erythema, progressive weakness of the limbs, pain, general fatigue, moodiness or crankiness) with clinical and/or laboratory features of other autoimmune diseases (e.g. systemic lupus erythematosus, localized scleroderma, diabetes). Cardiac involvement has been reported in some patients." "" + "obsolete tetanus" "" "true" + "transient neonatal multiple acyl-CoA dehydrogenase deficiency" "Transient neonatal multiple acyl-CoA dehydrogenase deficiency describes a very rare condition where a maternal riboflavin deficiency causes an infant to present with manifestations similar to those seen in multiple acyl-CoA dehydrogenase (MAD) deficiency such as poor suck, metabolic acidosis and hypoglycemia, but that resolves completely with oral riboflavin. In the one patient described haploinsufficiency of the human riboflavin transporter (hRFT1) was described in the mother." "" + "intermittent hydrarthrosis" "" + "classic neuroendocrine tumor of appendix" "Classic endocrine tumor of the appendix is a type of endocrine tumor of the appendix, seen twice as frequently in females than in males, and usually presenting before the fifth decade of life. Classic endocrine tumor of the appendix is usually asymptomatic when located in the tip of the appendix (without obstruction), but acute appendicitis is often associated." "" + "goblet cell carcinoma" "Goblet cell carcinoma (GCC) is an aggressive type of endocrine tumor of the appendix presenting equally in males and females in the fifth decade of life and manifesting with a palpable mass and abdominal pain or acute appendicitis. Metastasis to the ovaries, peritoneum or right colon has usually already occurred in half of patients at the time of diagnosis." "" + "wild type ATTR amyloidosis" "" + "lead poisoning" "5 ug/dL) is reported to lead to irreversible effects such as loss of cognition, shortening of attention span, alteration of behavior, dyslexia, attention deficit disorder, hypertension, renal impairment, immunotoxicity and toxicity to the reproductive organs." "" + "hypotrichosis-deafness syndrome" "" + "hemoglobin Lepore-beta-thalassemia syndrome" "" + "hemoglobin M disease" "" + "chronic actinic dermatitis" "" + "tetraploidy syndrome" "The presence of four sets of chromosomes. It is associated with abnormalities, multiple; and miscarrages." "" + "polyploidy" "The chromosomal constitution of a cell containing multiples of the normal number of chromosomes; includes triploidy (symbol: 3N), tetraploidy (symbol: 4N), etc." "" + "duplication/inversion 15q11" "Isodicentric chromosome 15 syndrome is a chromosome abnormality that affects many different parts of the body. As the name suggests, people with this condition have an extra chromosome (called an isodicentric chromosome 15) which is made of two pieces of chromosome 15 that are stuck together end-to-end. Although the severity of the condition and the associated features vary from person to person, common signs and symptoms include poor muscle tone in newborns; developmental delay; mild to severe intellectual disability; delayed or absent speech; behavioral abnormalities; and seizures. Most cases of isodicentric chromosome 15 syndrome occur sporadically in people with no family history of the condition. Treatment is based on the signs and symptoms present in each person." "" + "tetrasomy 5p" "Tetrasomy 5p is a rare chromosomal anomaly syndrome with variable phenotype principally characterized by developmental delay, growth retardation/short stature, hypotonia, seizures, venriculomegaly, hand and foot anomalies (e.g. clinodactyly, overlapping toes) and mosaic pigmentary skin changes. Patients may also present minor dysmorphic craniofacial features (incl. macrocephaly, upslanting palpebral fissures, hypertelorism, abnormal auricles, anteverted nasal tip, midface hypoplasia)." "" + "tetrasomy 9p" "Tetrasomy 9p is a rare autosomal anomaly characterized by pre- and postnatal growth retardation, psychomotor delay, mild to moderate intellectual disability, hypotonia, microcephaly, dysmorphic features (ocular hypertelorism, low-set, malformed ears, bulbous/beaked nose, microretrognathia, enophthalmos/micropthalmia, epicanthus, strabismus), cleft lip/palate, skeletal abnormalities (hypoplastic nails/distal phalanges, short stature, short neck, contractures), congenital heart defects, renal and urogenital malformations (renal hypoplasia, genital hypoplasia, cryptorchidism)." "" + "granulomatous slack skin disease" "Granulomatous slack skin (GSS) is a variant of mycosis fungoides (MF), a form of cutaneous T-cell lymphoma, and is characterized by the presence of circumscribed areas of pendulous lax skin." "" + "obsolete constitutional neutropenia with extra-hematopoietic manifestations" "" "true" + "obsolete other immunodeficiency syndromes due to defects in innate immunity" "True" "true" + "thalidomide embryopathy" "A group of anomalies presented in infants as a result of in utero exposure (between 20-36 days after fertilization) to thalidomide, a sedative used in treatment of a range of conditions, including morning sickness, leprosy and multiple myeloma (see these terms). Thalidomine embryopathy is characterized by phocomelia, amelia, forelimb and hand plate anomalies (absence of humerus and/or forearm, femur and/or lower leg, thumb anomalies). Other anomalies include facial hemangiomas, and damages to ears (anotia, microtia), eyes (microphthalmia, anophthalmos, coloboma, strabismus), internal organs (kidney, heart, and gastrointestinal tract), genitalia, and heart. Infant mortality associated with thalidomide embryopathy is estimated to be as high as 40%. Thalidomide is contraindicated in pregnancy and pregnancy prevention is recommended in women under treatment." "" + "obsolete immunodeficiency with isotype or light chain deficiencies with normal number of B-cells" "" "true" + "selective IgM deficiency" "Selective IgM deficiency (SIgMD) is a rare immune disorder that has been reported in association with serious infections, such as bacteria in the blood (bacteremia, also known as septicemia). Although SIgMD was first described in two children, the disorder can occur in babies, children, and adults. It is characterized by isolated absence or deficiency of immunoglobulin M (IgM), normal levels of other immunoglobulins, and recurrent infections (especially by Staphylococcus aureus, Streptococcus pneumoniae, Hemophilus influenza). The cause is still unclear. The diagnosis includes isolated deficiency ofIgM in the blood and no other immunodeficiency or secondary cause of low IgM. Patients with SIgMD and recurrent infections are managed like other antibody defects and deficiencies. It is suggested that people with SIgMD have pneumococcal and meningococcal vaccines, people with SIgMD who have recurrent infections should have prophylactic antibiotics and immune globulin replacement." "" + "obsolete other immunodeficiency syndrome with predominantly antibody defects" "True" "true" + "Thomas syndrome" "Thomas syndrome is characterised by renal anomalies, cardiac malformations and cleft lip or palate. It has been described in six patients. Transmission was suggested to be autosomal recessive." "" + "Hoyeraal-Hreidarsson syndrome" "Hoyeraal-Hreidarsson syndrome (HHS) is a very rare X-linked recessive disorder considered to be a severe variant of dyskeratosis congenita characterized by intrauterine growth retardation, microcephaly, cerebellar hypoplasia, progressive combined immune deficiency and aplastic anemia." "" + "thrombocytopenia-robin sequence syndrome" "" + "familial thrombomodulin anomalies" "" + "heparin-induced thrombocytopenia" "Heparin-induced thrombocytopenia (HIT) is a drug-induced, immune-mediated prothrombotic disorder associated with thrombocytopenia and venous and/or arterial thrombosis." "" + "obsolete Kaposi sarcoma" "" "true" + "Jessner lymphocytic infiltration of the skin" "Jessner lymphocytic infiltration of the skin (JLIS) is a chronic benign cutaneous disease characterized by asymptomatic non-scaly erythematous papules or plaques on the face and neck." "" + "hypoplastic tibiae-postaxial polydactyly syndrome" "Hypoplastic tibia-polydactyly syndrome is a very rare congenital malformation syndrome characterized by bilateral hypoplasia of the tibia with polydactyly of the feet and hands." "" + "male infertility due to sperm disorder" "True" + "pediatric hepatocellular carcinoma" "Pediatric hepatocellular carcinoma (pediatric HCC) is a rare, aggressive, malignant hepatic tumor that develops mainly in children over 10 years of age." "" + "bullous lichen planus" "Bullous lichen planus is a variant of rare lichen planus characterized by the development of vesico-bullous lesions." "" + "obsolete toxocariasis" "" "true" + "tracheal agenesis" "Tracheal agenesis (TA) is a rare congenital malformation in which the trachea may be completely absent (agenesis), or partially in place but underdeveloped (atresia). In both cases, proximal-distal communication between the larynx and the alveoli of the lungs is lacking." "" + "meningococcal meningitis" "An acute bacterial disease caused by Neisseria meningitides that presents usually, but not always, with a rash (non blanching petechial or purpuric rash), progressively developing signs of meningitis (fever, vomiting, headache, photophobia, and neck stiffness) and later leading to confusion, delirium and drowsiness. Neck stiffness and photophobia are often absent in infants and young children who may manifest nonspecific signs such as irritability, inconsolable crying, poor feeding, and a bulging fontanel. Meningococcal meningitis may also present as part of early or late onset sepsis in neonates. The disease is potentially fatal. Surviving patients may develop neurological sequelae that include sensorineural hearing loss, seizures, spasticity, attention deficits and intellectual disability." "" + "trichodermodysplasia-dental alterations syndrome" "Trichodermodysplasia-dental alterations syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by sparse, thin, brittle scalp hair, as well as sparse eyebrows, eyelashes, axillary and pubic hair, delayed eruption of deciduous teeth and hypodontia of both dentitions. Mild palmoplantar keratosis, cafC)-au-lait spots on back, mild dystrophy of nails, and tibial deflection of toes are also associated. There have been no further descriptions in the literature since 1986." "" + "autosomal dominant trichoodontoonychodysplasia-syndactyly" "" + "nodular non-suppurative panniculitis" "Nodular non-suppurative panniculitis, known as Weber-Christian disease (WCD), is a rare skin disorder characterized by recurring inflammation in the subcutaneous layer of fat." "" + "trigonocephaly-broad thumbs syndrome" "Trigonocephaly-broad thumbs syndrome is characterized by neonatal trigonocephaly and multiple anomalies including craniosynostosis, shallow orbits, unusual nose, deviation of the terminal phalanges of fingers 1, 2, and 5, and broad toes with duplication of the terminal phalanx. It has been described in a mother and her son. It is transmitted as an autosomal dominant trait." "" + "trisomy X" "Trisomy X is a sex chromosome anomaly with a variable phenotype caused by the presence of an extra X chromosome in females (47,XXX instead of 46,XX)." "" + "triploidy" "Triploidy is a chromosome abnormality that occurs when there is an extra set of chromosomes present in each cell. Most pregnancies affected by triploidy are lost through early miscarriage. However, reports exist of some affected babies living up to five months. Those that survive are often mosaic. The signs and symptoms associated with triploidy vary but may include a variety of birth defects and an unusually small size. This condition does not run in families and is not associated with maternal or paternal age. Treatment is based on the signs and symptoms present in each person." "" + "trisomy 13" "Trisomy 13 is a chromosomal anomaly caused by the presence of an extra chromosome 13 and is characterized by brain malformations (holoprosencephaly), facial dysmorphism, ocular anomalies, postaxial polydactyly, visceral malformations (cardiopathy) and severe psychomotor retardation." "" + "chromosome 13 disorder" "Chromosomal disorder in which chromosome 13 is affected." "" + "distal trisomy 17q" "Distal trisomy 17q is a rare chromosomal anomaly syndrome with variable phenotype principally characterized by intellectual disability, developmental delay, short stature, craniofacial dysmorphism (incl. microcephaly, low posterior hairline, frontal bossing, bitemporal narrowing, low-set and malformed ears, flat nasal bridge, long philtrum, wide mouth with downturned corners, thin upper lip) and a short, webbed neck, as well as skeletal anomalies (e.g. brachyrhizomelia, poly-/syndactyly) and joint hyperlaxity. Cardiac, cerebral, and urogenital anomalies are also frequently associated." "" + "familial multiple fibrofolliculoma" "Familial multiple fibrofolliculoma is a genodermatosis characterised by the presence of multiple hamartomas of the hair follicle. It has been described in one family so far." "" + "trisomy 18" "Trisomy 18 is a chromosomal abnormality associated with the presence of an extra chromosome 18 and characterized by growth delay, dolichocephaly, a characteristic facies, limb anomalies and visceral malformations." "" + "persistent truncus arteriosus" "A rare congenital cardiovascular disorder characterized by the failure of the embryologic structure truncus arteriosus to divide into the aorta and pulmonary trunk. It results in the presence of a single vessel instead of two vessels leading out of the heart. Clinical signs and symptoms include cyanosis that is present at birth, poor growth, dyspnea, tachypnea, arrhythmia, cardiomegaly, and heart failure. If it is not surgically repaired, it leads to death." "" + "" "true" + "obsolete American trypanosomiasis" "" "true" + "pulmonary non-tuberculous mycobacterial infection" "" + "malignant soft tissue neoplasm" "A malignant neoplasm arising exclusively from the soft tissues." "" + "obsolete rare germ cell tumor" "Rare germ cell tumor." "True" "true" + "hemorrhagic fever-renal syndrome" "Hemorrhagic fever with renal syndrome (HFRS) is a rodent-borne potentially severe hemorrhagic disease caused by Old World Hantaviruses characterized by high fever, malaise, headache, myalgia, arthralgia, backache, abdominal pain, oliguria/renal failure and systemic hemorrhagic manifestations." "" + "aorto-ventricular tunnel" "Aorto-ventricular tunnel is a congenital, extracardiac channel which connects the ascending aorta above the sinotubular junction to the cavity of the left, or (less commonly) right ventricle." "" + "transient tyrosinemia of the newborn" "Transient tyrosinemia of the newborn is a benign disorder of tyrosine metabolism detected upon newborn screening and often observed in premature infants. It shows no clinical symptoms. It is characterized by tyrosinemia, moderate hyperphenylalaninemia, and tyrosiluria that usually resolve after 2 months of age." "" + "Uhl anomaly" "Uhl anomaly is characterized by an almost complete absence of the myocardium in the right ventricle resulting in a thin walled nonfunctional right ventricle manifesting with cardiac arrhythmias and right ventricular failure. Cases of partial absence of right ventricular myocardium which remains asymptomatic or mildly symptomatic until adulthood have also been reported. Patients presenting with complete Uhl anomaly should be considered for cardiac transplantation." "" + "umbilical cord ulceration-intestinal atresia syndrome" "Umbilical cord ulceration-intestinal atresia syndrome is characterised by congenital intestinal atresia, umbilical cord ulceration and severe intrauterine haemorrhage." "" + "ulerythema ophryogenesis" "Ulerythema ophryogenesis is characterised by inflammatory keratotic papules occurring on the face, which may be followed by scars, atrophy and alopecia. Prevalence is unknown but the disease, affecting mainly children and young adults, is rare. Erythema with mild hyperkeratosis of the hair follicles resulting in rough papules is observed on the cheeks and lateral aspects of the eyebrows. The disorder occasionally extends to the adjacent scalp, ears and forehead and rarely to the extensor surfaces of the limbs. Symptoms regress with age, although loss of the lateral aspects of the eyebrows can occur. Many cases occur sporadically; autosomal dominant inheritance has also been reported. There is no particular treatment, but patients should avoid sun exposure without UV protection." "" + "hemorrhagic fever" "An infectious disease caused by certain viruses or bacteria that can damage the walls of tiny blood vessels, making them leak, and can hamper the blood's ability to clot and cause severe, life-threatening illness." "" + "double outlet right ventricle" "Double outlet right ventricle (DORV) is a rare cono-truncal anomaly in which both the aorta and pulmonary artery originate, either entirely or predominantly, from the morphologic right ventricle." "" + "double outlet left ventricle" "Double-outlet left ventricle (DOLV) is an extremely rare congenital cardiac malformation in which both the aorta and the pulmonary artery arise, either exclusively or predominantly, from the morphologic left ventricle." "" + "microcephaly-brachydactyly-kyphoscoliosis syndrome" "Microcephaly-brachydactyly-kyphoscoliosis syndrome is characterized by profound intellectual deficit in association with microcephaly, short stature, brachydactyly type D, a flattened occiput, downslanting palpebral fissures, low-set large ears, a broad prominent nose and kyphoscoliosis. It has been described in three sisters. The disorder is likely to be transmitted as an autosomal recessive trait." "" + "Vogt-Koyanagi-Harada disease" "A bilateral, chronic, diffuse granulomatous panuveitis typically characterized by serous retinal detachment and frequently associated with neurological (meningitis), auditory, and dermatological alterations." "" + "Weaver-Williams syndrome" "Weaver-Williams syndrome is a multiple congenital anomalies syndrome characterized by moderate-to-severe intellectual disability, decreased muscle mass, microcephaly, facial dysmorphism (prominent ears, midfacial hypoplasia, small mouth and cleft palate), clinodactyly of the fingers, delayed osseous maturation and generalized bone hypoplasia. The syndrome has been described in a brother and sister and an autosomal recessive mode of inheritance has been suggested. There have been no further descriptions in the literature since 1977." "" + "autosomal dominant limb-girdle muscular dystrophy type 1E (DES)" "Autosomal dominant limb-girdle muscular dystrophy type 1E (LGMD1E) is a subtype of autosomal dominant limb-girdle muscular dystrophy characterized by an adult onset of progressive cardiac conduction defects that begin with cardiac dysrhythmia. Congestive heart failure and symptoms of progressive muscle weakness (present in a proximal distribution) tend to occur later. Affected patients may present only the cardiac features of the disease. Additional features include exertional dyspnea, calf hypertrophy, elevated creatine kinase serum levels and muscle cytoplasmic inclusions." "" + "obsolete Whipple disease" "" "true" + "Quinquaud's folliculitis decalvans" "Folliculitis decalvans is a rare chronic inflammatory cicatricial alopecia of the scalp occurring in middle-aged adults and characterized by the development of alopecic patches with slowly centrifugal spread predominantly in the vertex and occipital area of the scalp, associated with perifollicular erythema, follicular pustules and hemorrhagic crusts." "" + "obsolete Torg-Winchester syndrome" "" "true" + "idiopathic recurrent and disabling cutaneous herpes" "" + "idiopathic disseminated cytomegalovirus infection" "" + "fulminant viral hepatitis" "Fulminant viral hepatitis is a rapid and severe impairment of liver functions (acute liver failure) with hepatic encephalopathy developing less than 8 weeks after the onset of jaundice, secondary to viral hepatitis mainly due to HBV, but also to HAV." "" + "lethal idiopathic viral infection" "" + "idiopathic severe pneumococcemia" "" + "epidermal nevus syndrome" "A syndrome characterized by lesions occurring on the face, scalp, or neck which consist of congenital hypoplastic malformations of cutaneous structures and which over time undergo verrucous hyperplasia. Additionally it is associated with neurological symptoms and skeletal, ophthalmological, urogenital, and cardiovascular abnormalities." "" + "disorder of phospholipids, sphingolipids and fatty acids biosynthesis" "" + "mitochondrial DNA maintenance syndrome" "An acquired metabolic disease that is has its basis in the disruption of mitochondrial genome maintenance." "" + "digital anomalies-intellectual disability-short stature syndrome" "" + "intellectual disability-obesity-brain malformations-facial dysmorphism syndrome" "Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome is a rare, syndromic intellectual disability primarily characterized by moderate to severe intellectual disability, true-to-relative microcephaly and brain abnormalities including a thin corpus callosum, cerebellar hypoplasia, cerebral white matter hypoplasia and multi-focal hyperintensity of cerebral white matter on MRI. Obesity and distinctive craniofacial dysmorphism (including brachycephaly, round face, straight eyebrows, synophrys, hypertelorism, epicanthus, wide and depressed nasal bridge, protruding ears with uplifted lobe, downslanting corners of the mouth) are additional features." "" + "Oncogenic osteomalacia" "Oncogenic osteomalacia is characterized by the development of a tumor that causes the bones to be weakened. This occurs when a tumor secretes a substance called fibroblast growth factor 23 (FGF23). FGF23 inhibits the ability of the kidneys to absorb phosphate. Phosphate is important for keeping bones strong and healthy. Therefore, this disease is characterized by a softening and weakening of the bones (osteomalacia). The disease also results in multiple biochemical abnormalities including high levels of phosphate in the urine (hyperphosphaturia) and low levels of phosphate in the blood (hypophosphatemia). The majority of tumors that cause oncogenic osteomalacia are small and slow-growing. These tumors most commonly occur in the skin, muscles, or bones of the extremities or in the paranasal sinuses around the head. Most of these tumors are benign, meaning they are not associated with cancer. The exact reason that the tumors associated with oncogenic osteomalacia develop is not known. The disease is diagnosed when a person experiences clinical features such as bone weakening and hyperphosphaturia and a tumor is found by imaging of the body. Treatment of the disease consists of surgical removal of the tumor. The symptoms of the disease, including the weakening of the bones, typically resolve once the tumor is removed." "" + "focal epilepsy-intellectual disability-cerebro-cerebellar malformation" "Focal epilepsy-intellectual disability-cerebro-cerebellar malformation is a rare, genetic neurological disorder characterized by early infantile-onset of seizures, borderline to moderate intellectual disability, cerebellar features including dysarthria and ataxia and cerebellar atrophy and cortical thickening observed on MRI imaging. Seizures are typically focal (with prominent eye blinking, facial and limb jerking), precipitated by fever and often commence with an oral sensory aura (anesthetized tongue sensation). When not properly controlled by anti-epileptic medication, weekly frequency and persistance into adult life is observed." "" + "progressive myoclonic epilepsy with dystonia" "A rare, genetic epilepsy syndrome characterized by neonatal or early infantile onset of severe, progressive, typically frequent and prolonged myoclonic seizures that are refractory to treatment, associated with localized and/or generalized paroxysmal dystonia (which later becomes persistent). Other features include severe hypotonia, hemiplegia, psychomotor regression (or lack of psychomotor development) and progressive cerebral and cerebellar atrophy, with affected individuals becoming progressively non-reactive to environmental stimuli." "" + "16q24.1 microdeletion syndrome" "16q24.1 microdeletion syndrome is a partial autosomal monosomy characterized clinically by lethal pulmonary disease that presents as severe respiratory distress and refractory pulmonary hypertension within a few hours after birth and typically results in death from respiratory failure within the first months of life. Characteristic histological features of lung tissue include paucity of alveolar wall capillaries, alveolar wall thickening, muscular hypertrophy of the pulmonary arteries, and malposition of the small pulmonary veins. Various additional congenital malformations may be associated, mostly gastrointestinal (intestinal malrotation and atresias, anular pancreas), genitourinary (dilatation of urinary tracts, duplicated uterus) and cardiovascular anomalies (hypoplastic left heart and other congenital heart defects)." "" + "phalangeal microgeodic syndrome" "Phalangeal microgeodic syndrome is a rare primary osteolysis characterized by multiple small osteolytic areas and sclerosis in the phalanges of one or both hands associated with swelling and redness of the phalanges. Condition is benign, self-limited and may be associated with cold exposure." "" + "autosomal recessive cerebellar ataxia with late-onset spasticity" "Autosomal recessive cerebellar ataxia with late-onset spasticity is a rare, genetic neurodegenerative disease characterized by childhood or adolescent-onset of cerebellar ataxia with dysarthria which slowly progresses and associates pyramidal signs, including lower limb spasticity, brisk reflexes, and Babinski and Hoffman signs. Patients typically present cerebellar ataxia with development of increasing asymmetric spasticity in upper and lower limbs, and variable axonal sensory or sensorimotor neuropathy. Additional heterogeneous features, including pes cavus, scoliolis, and abnormalities of the brain (e.g. cerebral atrophy), may also be associated." "" + "brain dopamine-serotonin vesicular transport disease" "Brain dopamine-serotonin vesicular transport disease is a newly discovered infantile-onset neurometabolic disease characterized by dystonia, parkinsonism, nonambulation, autonomic dysfunction, developmental delay and mood disturbances." "" + "neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to 9q21 microdeletion" "" + "attenuated Chédiak-Higashi syndrome" "Attenuated Chédiak-Higashi syndrome (CHS) is a very rare and atypical form of CHS, a genetic disorder characterized by partial oculocutaneous albinism (OCA), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder." "" + "minimal pigment oculocutaneous albinism type 1" "Type 1 minimal pigment oculocutaneous albinism (OCA1-MP) is an extremely rare form of OCA1 with minimal pigment present, characterized by blond hair, variable iris transillumination, visual acuity ranging from 20/80-20/200 and white skin, with or without skin nevi." "" + "temperature-sensitive oculocutaneous albinism type 1" "Type 1 temperature sensitive oculocutaneous albinism (OCA1-TS) is an extremely rare form of OCA1 characterized by the production of temperature sensitive tyrosinase proteins leading to dark hair on the legs, arms and chest (cooler body areas) and white hair on the scalp, axilla and pubic area (warmer body areas)." "" + "ocular albinism with congenital sensorineural hearing loss" "" + "obsolete scleredema" "" "true" + "obsolete burning mouth syndrome" "" "true" + "pyruvate carboxylase deficiency, infantile form" "Infantile pyruvate carboxylase (PC) deficiency (Type A) is a rare, severe form of PC deficiency characterized by infantile-onset, mild to moderate lactic acidemia, and a generally severe course." "" + "pyruvate carboxylase deficiency, severe neonatal type" "Severe neonatal pyruvate carboxylase (PC) deficiency (Type B) is a rare, extremely severe form of PC deficiency characterized by severe, early-onset metabolic acidosis, and a generally fatal outcome in early infancy." "" + "pyruvate carboxylase deficiency, benign type" "Benign pyruvate carboxylase (PC) deficiency (Type C) is a rare, very mild form of PC deficiency characterized by episodic metabolic acidosis and normal or mildly delayed neurological development." "" + "congenital retinal arteriovenous communication" "" + "idiopathic macular telangiectasia type 1" "Idiopathic macular telangiectasia type 1 is a rare, acquired, eye disease characterized by unilateral (rarely bilateral) abnormally dilated and tortuous capillaries around the fovea, associated with multiple arteriolar and venular aneurysms, lipid depositions, and intra-retinal cystoid degeneration. It leads to vision loss due to macular edema with hard exudates." "" + "idiopathic macular telangiectasia type 3" "Idiopathic macular telangiectasia type 3 is a rare, acquired, eye disease characterized by progressive visual loss, due to bilateral juxtafoveolar capillary occlusions, capillary telangiectasia, and minimal exudation. It is associated with systemic or cerebral vascular occlusive disease." "" + "vasoproliferative tumor of retina" "Vasoproliferative tumor of the retina is a rare, benign, retinal vascular disease characterized by solitary or multiple, unilateral or bilateral, intra-retinal tumor(s), usually located in the peripheral infero-temporal quadrant, and often associated with sub- and intraretinal exudates, epiretinal membranes, exudative retinal detachment and cystoid macular edema, as well as, occasionally, retinal and vitreous hemorrhage. Patients may present with visual loss, floaters, and/or photopsia. Association with various conditions, such as retinitis pigmentosa, congenital retinal toxoplasmosis, retinopathy of prematurity, or coloboma, has been reported." "" + "serpiginous choroiditis" "Serpiginous choroiditis is a rare inflammatory eye condition that typicallydevelops betweenage 30 and 70 years. Affected individuals have lesions in the eye thatlast from weeks to months and involve scarringof the eye tissue.Recurrence of these lesionsis common in serpiginous choroiditis. Vision loss may occurin one or both eyeswhen the macula is involved. Treatment options involve anti-inflammatory and immune-suppressing medications." "" + "Erdheim-Chester disease" "Erdheim-Chester disease (ECD), a non-Langerhans form of histiocytosis, is a multisystemic disease characterized by various manifestations such as skeletal involvement with bone pain, exophthalmos, diabetes insipidus, renal impairment and central nervous system (CNS) and/or cardiovascular involvement." "" + "3q26q27 microdeletion syndrome" "" + "atypical hemolytic-uremic syndrome with DGKE deficiency" "" + "hereditary retinoblastoma" "An inherited malignant tumor that originates in the nuclear layer of the retina. A predisposition to retinoblastoma has been associated with 13q14 cytogenetic abnormalities. Patients with the inherited form appear to be at increased risk for secondary nonocular malignancies such as osteosarcoma, malignant fibrous histiocytoma, and fibrosarcoma." "" + "non-hereditary retinoblastoma" "" + "arterial thoracic outlet syndrome" "Arterial thoracic outlet syndrome (ATOS) is a form of thoracic outlet syndrome (TOS) that presents as unilateral upper extremity ischemia." "" + "venous thoracic outlet syndrome" "Venous thoracic outlet syndrome (VTOS) is a form of thoracic outlet syndrome (TOS) that manifests as unilateral (rarely bilateral) arm pain and cyanosis." "" + "oral submucous fibrosis" "Oral submucous fibrosis (OSMF) is a chronic, progressive disease that alters the fibroelasticity of the oral submucosa, prevalent in India and Southeast Asia but rare elsewhere, and characterized by burning and pain in the oral cavity, loss of gustatory sensation, the presence of blanched fibrous bands and stiffening of the oral mucosa and oro-pharynx (leading to trismus and a progressive reduction in mouth opening) and an increased risk of developing oral squamous cell cancer (3-19%). It is usually associated with the chewing of the areca nut (an ingredient in betel quid) but the exact etiology is unknown and there is currently no effective treatment." "" + "primary essential cutis verticis gyrata" "Primary essential cutis verticis gyrata is a rare, progressive dermis disorder characterized by thickening of the scalp resulting in redundancy of the skin which gives rise to folds and grooves that give the scalp a cerebriform appearance. Folds cannot be corrected by pressure or traction and typically are symmetric and extend anteroposteriorly from vertex to occiput and/or transversely in occipital region. Additional features may include mild subungual hyperkeratosis and distal onycholysis of the nail plates of the great toes. It is not associated with neurological and ophthalmological changes, nor with secondary causes." "" + "primary cutis verticis gyrata" "Cutis verticis gyrata (CVG) is a progressive cutaneous disorder predominantly affecting males and characterized by hypertrophy and thickening of the skin of the scalp forming convoluted furrows with deep, tender, and cerebriform cutaneous folds. Hair is usually normal in the furrows and sparse on the folds. CG can be isolated (essential CVG) or associated with other abnormalities such as intellectual deficit, epilepsy, cataract, blindness, and deafness (non essential CVG)." "" + "primary non-essential cutis verticis gyrata" "" + "morning glory syndrome" "Morning glory syndrome (MGS) is an optic neuropathy characterized by a congenital funnel shaped excavation of the posterior fundus that incorporates the optic disc malformation (resembling the morning glory flower) MGS is usually unilateral and may result in a decrease in best-corrected visual acuity (BCVA). MGS either occurs isolated or associated to other ocular or non-ocular anomalies." "" + "idiopathic nephrotic syndrome" "Nephrotic syndrome for which no cause has been identified." "" + "ovarian sex cord-stromal tumor" "A benign or malignant neoplasm that arises from the ovary and is composed of granulosa cells, Sertoli cells, Leydig cells, theca cells, and fibroblasts. Representative examples include thecoma, fibroma, Sertoli cell tumor, and granulosa cell tumor." "" + "acute opioid poisoning" "Acute opioid poisoning is a rare intoxication with opioids, a large group of alkaloid analgesics, mainly characterized by miosis (pinpoint pupil), respiratory depression (bradypnea/apnea) and central nervous system depression (sedation or coma). Other manifestations include hypotension, reduced bowel motility, hypothermia and hypoglycemia. Naloxone, a competitive inhibitor of the mu-opioid receptor, is a potent antagonist and is used as the antidote for opioid intoxication." "" + "obsolete polymicrogyria" "" "true" + "tumor grade 4, general grading system" "A morphologic qualifier indicating that a cancerous lesion is undifferentiated." "" + "obsolete bacterial toxic-shock syndrome" "" "true" + "staphylococcal scarlet fever" "" + "staphylococcal scalded skin syndrome" "A blistering skin disorder caused by exfoliative toxins produced by Staphylococcus aureus infection. The toxins cause the formation of bullae and diffuse skin desquamation. The lesions may be localized or generalized, far away from the initial site of infection." "" + "bullous impetigo" "Bullous impetigo is a contagious superficial infection occurring in intact skin. Prevalence in the general population is unknown. The disease is characterized by fragile vesicles and flaccid blisters, most often presenting as erosive lesions covered by a yellow crust. The face, trunk and extremities of children under 5 years of age (particularly neonates) are mainly affected. The disease is generally caused by group II Staphylococcus aureus." "" + "staphylococcal necrotizing pneumonia" "Staphylococcal necrotizing pneumonia is a rare, bacterial, pulmonary infectious disease, caused by a Panton-Valentine leukocidin-producing Staphylococcus aureus strain, characterized by severe respiratory failure, extensive, rapidly progressing pneumonia and hemorrhagic lung necrosis. Patients typically present with influenza-like symptoms, such as fever, cough, and chest pain, as well as hemoptysis, hypotension, leukopenia, and severe respiratory symptoms that rapidly evolve to acute respiratory distress syndrome and septic shock. High mortality is associated." "" + "gastric linitis plastica" "Gastric linitis plastica (gastric LP) is a malignant, diffuse, infiltrative gastric adenocarcinoma." "" + "paratesticular adenocarcinoma" "" + "testicular teratoma" "" + "obsolete sex cord-stromal tumor of testis" "" "true" + "obsolete non-seminomatous germ cell tumor of testis" "" "true" + "obsolete germ cell tumor of testis" "" "true" + "mitochondrial DNA depletion syndrome, hepatocerebrorenal form" "" + "acute encephalopathy with biphasic seizures and late reduced diffusion" "Acute encephalopathy with biphasic seizures and late reduced diffusion (AESD) is a rare childhood-onset epilepsy syndrome associated with infection and characterized by a biphasic clinical course. The initial symptom is a prolonged febrile seizure on day 1 (the first phase). Afterwards, patients have variable levels of consciousness from normal to coma. Irrespective of the consciousness levels, magnetic resonance imaging (MRI) during the first 2 days shows no abnormality. During the second phase (usually days 4 - 6), patients show a cluster of seizures and deterioration of consciousness. Diffusion-weighted images (DWI) on MRI reveal the brain lesions with reduced diffusion predominantly in the subcortical white matter. After the second acute phase, consciousness levels improve with the emerging focal neurological signs. Neurological outcomes of AESD vary from normal to mild or severe sequelae including cerebral atrophy, mental retardation, paralysis and epilepsy." "" + "new-onset refractory status epilepticus" "New-onset refractory status epilepticus is an acute encephalopathy with inflammation-mediated status epilepticus characterized by an acute refractory status epilepticus, typically of the tonic-clonic type, following prodromal symptoms of confusion, fever, fatigue, headache, symptoms of gastrointestinal or upper respiratory tract infection, behavioral changes or hallucinations. Brain MRI abnormalities and abnormal findings in CSF, including pleocytosis and/or elevated protein levels, are frequently found during acute episode. Treatment-resistant epilepsy, cognitive and psychiatric impairments are usual consequences." "" + "obsolete acute encephalopathy with inflammation-mediated status epilepticus" "" "true" + "LMNA-related cardiocutaneous progeria syndrome" "A rare, genetic, premature aging syndrome characterized by adulthood-onset cutaneous manifestations that result in a prematurely aged appearance (i.e. premature thinning and graying of scalp hair, loss of subcutaneous fat, tightening of skin) associated with prominent cardiovascular manifestations, such as accelerated atherosclerosis, calcific valve disease, and cardiomyopathy. Patients present loss of eyebrows and eyelashes in childhood and have a predisposition to develop malignancies." "" + "20q11.2 microduplication syndrome" "20q11.2 microduplication syndrome is a rare chromosomal anomaly syndrome, due to partial duplication of the long arm of chromosome 20, characterized by psychomotor and developmental delay, moderate intellectual disability, metopic ridging/trigonocephaly, short hands and/or feet and distinctive facial features (epicanthus, hypoplastic supraorbital ridges, horizontal/downslanting palpebral fissures, small nose with depressed nasal bridge and anteverted nostrils, prominent cheeks, retrognathia and small, thick ears). Growth delay and cryptororchidism are often associated features." "" + "distal monosomy 1q" "1qter deletion syndrome is a chromosomal anomaly characterized by an intellectual deficiency, progressive microcephaly, seizures, growth delay, distinct facial dysmorphic features and various midline defects including cardiac, corpus callosum, gastro-oesophalgeal and urogenital anomalies." "" + "childhood-onset autosomal recessive myopathy with external ophthalmoplegia" "" + "2p13.2 microdeletion syndrome" "2p13.2 microdeletion syndrome is a rare partial autosomal monosomy characterized by global development delay, intellectual disability, behavioral abnormalities (hyperactivity, attention deficit and autistic behaviors), brachycephaly and variable facial dysmorphism. Other associated features may include vertebral fusions, mild contractures of knees and elbows, and feeding difficulties during infancy." "" + "neurofibromatosis type 1 due to NF1 mutation or intragenic deletion" "" + "Alexander disease type I" "Alexander disease type I (AxD type I) is an astrogliopathy and the most severe and common form of Alexander disease (AxD), presenting before the age of 4 and characterized by seizures, megalencephaly and developmental delay with progressive deterioration." "" + "Alexander disease type II" "Alexander disease type II (AxD type II) is an astrogliopathy and a form of Alexander disease (AxD) characterized by ataxia, bulbar symptoms, spastic paraparesis, palatal myoclonus, and autonomic symptoms." "" + "Balint syndrome" "Balint syndrome is a rare neurologic disease characterized by the triad of optic ataxia, ocular apraxia and simultanagnosia due to posterior parietal lobe lesions. Patients report ophthalmologic difficulties in the absence of underlying ophthalomologic anomalies and present severe visual and spatial disabilities in locating and reaching objects, initiating voluntary eye movements and perceiving more than one object at a time." "" + "familial cervical artery dissection" "An instance of cervical artery dissection that is caused by an inherited modification of the individual's genome." "" + "Koolen-de Vries syndrome due to 17q21.31 microdeletion syndrome" "" + "Koolen-de Vries syndrome due to a point mutation" "" + "autosomal recessive cerebral atrophy" "" + "" "true" + "" "true" + "immune hydrops fetalis" "Immune hydrops fetalis (IHF), a form of HF, describes the excessive accumulation of fetal fluid within the fetal extravascular compartments and body cavities due to maternal rhesus (Rh) incompatibility." "" + "systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood" "Systemic Epstein-Barr virus (EBV)-positive T-cell lymphoproliferative disease of childhood is a rare and very aggressive neoplastic disease emerging after a primary acute or chronic active EBV infection. It presents with persisting fever and malaise, hepatosplenomegaly with or without lymphadenopathy, liver failure, severe pancytopenia and a rapid progression towards multi-organ failure and hemophagocytic syndrome with a fatal issue. It is characterized by clonal proliferation of EBV-infected T cells with an activated cytotoxic phenotype." "" + "hydroa vacciniforme-like lymphoma" "A rare, EBV-positive cutaneous T-cell lymphoproliferative disorder, composed of CD8 positive cytotoxic T-lymphocytes. It affects children, almost exclusively in Latin America and Asia. Patients present with papulovesicular skin lesions, clinically resembling hydroa vacciniforme, in areas of sun-exposed skin." "" + "ALK-positive large B-cell lymphoma" "Anaplastic lymphoma kinase (ALK)-positive diffuse large B-cell lymphoma is a very rare variant of diffuse large B-cell lymphoma (DLBCL) mainly affecting middle-aged immunocompetent men and characterized by a consistent primary involvement of lymph nodes (mainly in the cervical and mediastinum lymph nodes) and with infrequent extra nodal involvement of the bone marrow and other extra-nodal sites (head and neck region, liver, spleen, and gastrointestinal tract). It has an aggressive disease course, and is associated with a poor prognosis." "" + "infantile epileptic-dyskinetic encephalopathy" "Infantile epileptic-dyskinetic encephalopathy is a monogenic disease with epilepsy characterized by developmental delay and infantile spasms in the first months of life, followed by chorea and generalized dystonia and progressing to quadriplegic dyskinesia, recurrent status dystonicus, intractable focal epilepsy and severe intellectual disability." "" + "hypocomplementemic urticarial vasculitis" "Hypocomplementemic urticarial vasculitis (HUV) is an immune complex-mediated small vessel vasculitis characterized by urticaria and hypocomplementemia (low C1q with or without low C3 and C4), and usually associated with circulating anti-C1q autoantibodies. Arthritis, pulmonary disease, ocular inflammation, and glomerulonephritis are common systemic manifestations." "" + "bipartite talus" "Bipartite talus is a rare, genetic bone disorder characterized by the presence of two non-fused talar bone fragments, with the posterior fragment located at the level of the posterior talar process. Patients may present with foot and/or ankle pain (exercise-induced or not), repetitive ankle sprains, chronic ankle ligamentous laxity, restricted ankle motion (i.e. plantar flexion, eversion, and inversion), and mild swelling." "" + "Stevens-Johnson syndrome" "Stevens-Johnson syndrome is a limited form of toxic epidermal necrolysis characterized by destruction and detachment of the skin epithelium and mucous membranes involving less than 10% of the body surface area." "" + "toxic epidermal necrolysis" "Toxic epidermal necrolysis (TEN) is an acute and severe skin disease with clinical and histological features characterized by the destruction and detachment of the skin epithelium and mucous membranes." "" + "obsolete rare genetic bone development disorder" "True" "true" + "obsolete dysostosis with limb anomaly as a major feature" "True" "true" + "obsolete dysostosis with limb and face anomalies as a major feature" "True" "true" + "obsolete rare bone disease related to a common gene or pathway defect" "" "true" + "obesity due to SIM1 deficiency" "" + "2p21 microdeletion syndrome without cystinuria" "2p21 microdeletion syndrome without cystinuria is a rare partial autosomal monosomy characterized by weak fetal movements, severe infantile hypotonia and feeding difficulties that spontaneously improve with time, urogenital abnormalities (hypospadias or hypoplastic labia majora), global development delay, mild intellectual disability and facial dysmorphism (dolichocephaly, frontal bossing, bilateral ptosis, midface retrusion, open mouth with tented upper lip vermilion). Affected individuals have borderline elevated serum lactate but no cystinuria." "" + "CADDS" "" + "intellectual disability-seizures-macrocephaly-obesity syndrome" "Intellectual disability-seizures-macrocephaly-obesity syndrome is a rare syndromic obesity due to complex chromosomal rearrangement characterized by development delay and intellectual disability, childhood-onset obesity, seizures, poor coordination and broad-based gait, macrocephaly and mild dysmorphic features (such as narrow palpebral fissures, malar hypoplasia and thin upper lips), eczema, ocular abnormalities and a social personality." "" + "finger hyperphalangy - toe anomalies - severe pectus excavatum syndrome" "" + "diffuse palmoplantar keratoderma with painful fissures" "" + "focal palmoplantar keratoderma with joint keratoses" "" + "intellectual disability-facial dysmorphism-hand anomalies syndrome" "" + "spondyloepimetaphyseal dysplasia, Isidor type" "" + "spondylometaphyseal dysplasia, Czarny-Ratajczak type" "" + "acute myeloid leukemia with t(8;16)(p11;p13) translocation" "A distinct form of Acute myeloid leukemia (AML) in which this chromosomal anomaly is found de novo or in therapy-related AML cases, and is characterized by frequent extramedullary involvement (mainly hepatomegaly, splenomegaly, lymphadenopathies, cutaneous infiltration, but also gum, bone, central nervous system, testicles involvement), severe coagulation disorder (disseminated intravascular coagulopathy or primary fibrinolysis) and poor prognosis. Morphologically, a blast population with a myelomonocytic stage of differentiation is observed." "" + "familial syringomyelia" "An instance of syringomyelia that is caused by an inherited modification of the individual's genome." "" + "Angora hair nevus" "" + "didymosis aplasticosebacea" "" + "scalp syndrome" "" + "Nevada syndrome" "NEVADA (Nevus Epidermicus Verrucosus with AngioDysplasia and Aneurysms) syndrome is a rare, life-threatening, cutaneous disease characterized by a keratinocytic epidermal nevus presenting thick, hystrix-like, white or brownish hyperkeratosis associated with multiple extracutaneous vascular malformations, including angiodysplasia that involves large-vessel arteriovenous shunts that may be fatal during the neonatal period." "" + "fetal carbamazepine syndrome" "A drug-related embryofetopathy that can occur when an embryo/fetus is exposed to carbamazepine and that is characterized by facial dysmorphism, with some similarities to that seen in fetal valproate syndrome (see this term), such as epicanthal folds, upward slanting palpebral fissures, short nose, micrognathia and malar hypoplasia, as well as nail dysplasia and major anomalies including cleft lip/palate, neural tube defects and cardiac anomalies. In utero exposure to carbamazepine, in combination with valproate, has been associated with significant developmental delay (particularly affecting verbal intelligence) and a high rate of congenital anomalies." "" + "oculocutaneous albinism type 6" "A form of oculocutaneous albinism characterized by light hair at birth that darkens with age, white skin, transparent irides, photophobia, nystagmus, foveal hypoplasia and reduced visual acuity." "" + "obsolete rare disorder with dystonia and other neurologic or systemic manifestation" "True" "true" + "ataxia - telangiectasia variant" "Ataxia-telangiectasia variant is a rare, genetic, persistent combined dystonia characterized by clinical signs similar to ataxia-telangiectasia but with a later (usually adulthood) onset and slower progression. Patients typically present extrapyramidal signs, such as resting tremor, choreathetosis, and dystonia, as the initial symptoms and later often develop mild cerebellar ataxia (with gait usually preserved). Telangiectasia and immunodeficiency may be absent but secondary features of ataxia-telangiectasia, such as risk of malignancy, dysarthria and peripheral neuropathy, are frequently present." "" + "combined cervical dystonia" "" + "Medich giant platelet syndrome" "Medich giant platelet syndrome (MGPS) is a platelet granule disorder characterized by thrombocytopenia with giant platelets resulting in easy bleeding." "" + "white platelet syndrome" "White platelet syndrome (WPS) is is a platelet granule disorder characterized by thrombocytopenia, increased mean platelet volumes, decreased platelet responsiveness to aggregating agents, and significant defects in platelet ultrastructural morphology leading to prolonged bleeding times and bleeding." "" + "obsolete small cell carcinoma of the ovary" "A small cell carcinoma that involves the ovary." "" "true" + "XYLT1-CDG" "" + "GM3 synthase deficiency" "GM3 synthase deficiency is characterized by recurrent seizures (epilepsy) and problems with brain development. Within the first few weeks after birth, affected infants become irritable and develop feeding difficulties and vomiting that prevent them from growing and gaining weight at the usual rate. Seizures begin within the first year of life and worsen over time. Multiple types of seizures are possible, including generalized tonic-clonic seizures (also known as grand mal seizures), which cause muscle rigidity, convulsions, and loss of consciousness. Some affected children also experience prolonged episodes of seizure activity called nonconvulsive status epilepticus. The seizures associated with GM3 synthase deficiency tend to be resistant (refractory) to treatment with antiseizure medications." "" + "obsolete salt and pepper syndrome" "" "true" + "congenital muscular dystrophy with intellectual disability" "" + "muscle-eye-brain disease with bilateral multicystic leucodystrophy" "Muscle-eye-brain (MEB) disease with bilateral multicystic leucodystrophy is a form of congenital muscular alpha-dystroglycanopathy with brain and eye anomaly characterized by severe muscle-eye-brain disease-like phenotype associated with macrocephaly and extended bilateral multicystic white matter disease, overlapping with the cerebral findings in patients with megalencephalic leukoencephalopathy with subcortical cysts." "" + "congenital muscular dystrophy with hyperlaxity" "Congenital muscular dystrophy with hyperlaxity is a rare, genetic neuromuscular disease characterized by congenital hypotonia, generalized, slowly progressive muscular weakness, and proximal joint contractures with distal joint hypermobility and hyperlaxity. Scoliosis or rigidity of the spine and delayed motor milestones are also frequently reported. Other manifestations include a long myopathic face and, in rare cases, respiratory failure, mild to moderate intellectual deficiency and short stature. Ambulation may be impaired with time." "" + "obsolete X-linked congenital disorder of glycosylation with intellectual disability as a major feature" "True" "true" + "obsolete non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature" "True" "true" + "obsolete congenital disorder of glycosylation with epilepsy as a major feature" "True" "true" + "obsolete congenital disorder of glycosylation with cardiac malformation as a major feature" "True" "true" + "obsolete congenital disorder of glycosylation with nephropathy as a major feature" "True" "true" + "obsolete congenital disorder of glycosylation with deafness as a major feature" "True" "true" + "obsolete hypotonia-speech impairment-severe cognitive delay syndrome" "" "true" + "multicentric osteolysis-nodulosis-arthropathy spectrum" "A rare genetic chronic skeletal disorder characterized by peripheral osteolysis (especially carpal and tarsal bones), interphalangeal joint erosions, subcutaneous fibrocollagenous nodules, facial dysmorphism, and a wide range of associated manifestations." "" + "obsolete sphingolipidosis with epilepsy" "" "true" + "obsolete genetic hyperaldosteronism" "" "true" + "interstitial cystitis" "A rare chronic debilitating urogenital disease characterized by urinary frequency, urgency, and pelvic pain." "" + "acquired kinky hair syndrome" "Acquired progressive kinking of the hair (APKH) is a rare hair disorder characterized by the appearance of lustreless, curly, frizzy, and coarse hair generally during adolescence predominantly in the frontal, temporal, and vertex regions of the scalp. Eyelashes, as well as growth and pigmentation of the hair, may also be affected." "" + "Schnitzler syndrome" "A rare, underdiagnosed disorder in adults characterized by recurrent febrile rash, bone and/or joint pain, enlarged lymph nodes, fatigue, a monoclonal IgM component, leukocytosis and systemic inflammatory response." "" + "liver mesenchymal hamartoma" "A multicystic, tumor-like hamartomatous lesion that arises from the liver during fetal development. Clinically, it usually presents as an abdominal mass associated with abdominal distention. Following resection, the prognosis is usually good." "" + "acromelanosis" "Acromelanosis is a congenital hyperpigmentation of the skin usually located on the acral areas of the fingers and toes. It is mostly observed in newborns or during the first years of life." "" + "obsolete uveal melanoma" "" "true" + "infantile-onset mesial temporal lobe epilepsy with severe cognitive regression" "A rare monogenic disease with infantile-onset pharmacoresistant focal seizures of mesial temporal lobe onset manifesting with unresponsiveness, hypertonia and automatisms and cognitive regression soon after seizure onset leading to severe intellectual disability with behavioral abnormalities." "" + "X-linked osteoporosis with fractures" "" + "fatal post-viral neurodegenerative disorder" "" + "growth retardation-mild developmental delay-chronic hepatitis syndrome" "" + "microcephaly, epilepsy, and diabetes syndrome 1" "" + "HSD10 disease, infantile type" "HSD10 disease, infantile type is a clinical subtype of HSD10 disease, a rare neurometabolic disorder. It is characterized by normal early development until 6-18 months of life, followed by progressive neurodegeneration manifesting with developmental regression, progressive visual and hearing troubles, seizures, epilepsy, severe cardiomyopathy, lethargy, hypotonia, poor feeding, choreoathetosis, and movement disorders. Elevated blood levels of isoleucine metabolites and their excretion in urine are reported. The disease is usually fatal around 2-4 years of age." "" + "HSD10 disease, neonatal type" "HSD10 disease, neonatal type is the most severe form of HSD10 disease, a rare neurometabolic disorder. It is characterized by onset of severe metabolic/lactic acidosis, neurological and psychomotor delay, seizures and severe progressive hypertrophic cardiomyopathy in the neonatal period. Hepatic involvement and coagulopathy are rare. The disease is fatal within the first months of life." "" + "adult-onset myasthenia gravis" "Acquired myasthenia gravis (MG) is an autoimmune disorder of the neuromuscular junction characterized by fatigable muscle weakness with frequent ocular signs and/or generalized muscle weakness, and occasionally associated with thymoma." "" + "juvenile myasthenia gravis" "Juvenile myasthenia gravis (MG) is a rare form of MG, an autoimmune disorder of the neuromuscular junction resulting in ocular manifestations or generalized weakness, with onset before 18 years of age." "" + "transient neonatal myasthenia gravis" "Transient neonatal myasthenia gravis (MG) is a rare form of MG occurring in neonates born to mothers who have the disorder or specific circulating autoantibodies." "" + "secondary neonatal autoimmune disease" "" + "obsolete rare genetic dystonia" "" "true" + "multiple acyl-CoA dehydrogenase deficiency, severe neonatal type" "" + "multiple acyl-CoA dehydrogenase deficiency, mild type" "" + "chronic hiccup" "Chronic hiccup is a rare movement disorder characterized by involuntary spasmodic contractions of the inspiratory muscles synchronized with larynx closure lasting for more than 48 hours." "" + "deep dermatophytosis" "True" + "obsolete Silver-Russell syndrome due to a point mutation" "" "true" + "PrP systemic amyloidosis" "Prion protein (PrP) systemic amyloidosis, previously known as chronic diarrhea with hereditary sensory and autonomic neuropathy is an extremely rare autosomal dominant disorder reported in three British families, a Japanese and an Italian family (about 16 cases in total). Onset is usually in the fourth decade of life and the course lasts about 20 years. Reported clinical manifestations include diarrhea, nausea, autonomic failure (areflexia, weakness), neurogenic bladder and urinary infections. The disorder is caused by truncation mutations of the prion protein gene PRNP (20p13) leading to deposition of prion protein amyloid." "" + "3q27.3 microdeletion syndrome" "3q27.3 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 3, characterized by mild to severe intellectual disability, neuropsychiatric disorders of the psychotic and dysthymic spectrum, mild distinctive facial dysmorphism (incl. slender face, deep-set eyes, high nasal bridge with a hooked nose, small, low- set ears, short philtrum, small mouth with thin upper lip, prognathism) and a marfanoid habitus." "" + "periodic paralysis with later-onset distal motor neuropathy" "" + "periodic paralysis with transient compartment-like syndrome" "" + "obsolete T+ B+ severe combined immunodeficiency" "" "true" + "ferro-cerebro-cutaneous syndrome" "" + "severe intellectual disability-progressive postnatal microcephaly- midline stereotypic hand movements syndrome" "" + "obsolete polyglucosan body myopathy type 1" "" "true" + "MAN1B1-CDG" "MAN1B1-CDG is a form of congenital disorders of N-linked glycosylation characterized by intellectual disability, delayed motor development, hypotonia and truncal obesity. Additional features include slight facial dysmorphism (hypertelorism, downslanting palpebral fissures, large, low-set ears, hypoplastic nasolabial fold, thin upper lip), hypermobility of the joints and skin laxity. The disease is caused by mutations in the gene MAN1B1 (9q34.3)." "" + "obsolete malignant tumor of penis" "" "true" + "refractory celiac disease" "Refractory celiac disease (RCD) is a complex autoimmune disorder much like the more common celiac disease but, unlike celiac disease, it is resistant or unresponsive to at least 12 months of treatment with a strict gluten-free diet. Gliadin, a component of the wheat storage protein gluten, together with similar proteins in barley and rye, are the villains that trigger the immune reaction in celiac disease. The diagnosis of RCD is made by exclusion, especially of any other disorder that can affect the huge number of thread-like projections that line the interior of the intestine (intestinal villi), such as intestinal lymphoma, Crohn's disease, small intestinal bacterial overgrowth or hypogammaglobulinemia." "" + "SIM1-related Prader-Willi-like syndrome" "" + "neonatal antiphospholipid syndrome" "" + "secondary antiphospholipid syndrome" "An antiphospholipid syndrome that occurs alongside another autoimmune disorder." "" + "neonatal autoimmune hemolytic anemia" "" + "neonatal dermatomyositis" "" + "neonatal lupus erythematosus" "A self-limited skin rash that appears in the neonatal period and usually resolves in four to six months after birth. It is caused by placental transfer of maternal autoantibodies, usually anti-Ro antibody. In a minority of cases, it is associated with congenital heart block, hepatitis, or thrombocytopenia. The mothers of the affected babies may be asymptomatic or suffer from systemic lupus erythematosus, Sjogren's syndrome, or rheumatoid arthritis." "" + "neonatal scleroderma" "" + "persistent idiopathic facial pain" "" + "obsolete mucinous adenocarcinoma of ovary" "" "true" + "obsolete clear cell adenocarcinoma of ovary" "" "true" + "primary peritoneal serous/papillary carcinoma" "" + "KLHL9-related early-onset distal myopathy" "KLHL9-related early-onset distal myopathy is a rare, genetic distal myopathy characterized by slowly progressive distal limb muscle weakness and atrophy (beginning with anterior tibial muscle involvement followed by the intrinsic hand muscles) in association with reduced sensation in a stocking-glove distribution. Patients present with high stepping gait, ankle areflexia and contractures in the first to second decade of life, associated with marked ankle extensor muscle atrophy; later proximal muscle involvement is moderate and ambulation is preserved throughout the life." "" + "nebulin-related early-onset distal myopathy" "" + "obsolete osteonecrosis" "" "true" + "traumatic avascular necrosis" "" + "secondary non-traumatic avascular necrosis" "" + "obsolete rare hereditary disease with avascular necrosis" "True" "true" + "osteonecrosis of the jaw" "An area of necrotic bone in the mandible or maxilla." "" + "idiopathic avascular necrosis" "" + "epiphysiolysis of the hip" "Epiphysiolysis of the hip is a rare osteonecrosis disorder characterized by unilateral or bilateral disruption of the capital femoral physis with varying degrees of posterior epiphysis translation and simultaneous anterior metaphysis displacement. Patients typically present in pre-adolescence/adolescence with pain of variable intensity in varying locations (hip, groin, thigh, knee)." "" + "obsolete rare male infertility due to hypothalamic-pituitary-gonadal axis disorder" "True" "true" + "obsolete rare male infertility due to adrenal disorder" "True" "true" + "obsolete rare male infertility due to testicular endocrine disorder" "True" "true" + "male infertility due to gonadal dysgenesis or sperm disorder" "True" + "male infertility with spermatogenesis disorder due to single gene mutation" "True" + "obsolete female infertility due to hypothalamic-pituitary-gonadal axis disorder" "True" "true" + "obsolete rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism" "" "true" + "obsolete rare female infertility due to an adrenal disorder" "True" "true" + "obsolete female infertility due to an anomaly of ovarian function" "True" "true" + "obsolete rare genetic male infertility" "Rare genetic male infertility." "True" "true" + "obsolete rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin" "An instance of rare male infertility due to hypothalamic-pituitary-gonadal axis disorder that is caused by a modification of the individual's genome." "True" "true" + "obsolete rare male infertility due to adrenal disorder of genetic origin" "True" "true" + "cystic echinococcosis" "" + "echinococcus granulosus infectious disease" "An disease or disorder caused by infection with Echinococcus granulosus." "" + "obsolete rare genetic female infertility" "True" "true" + "obsolete rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin" "An instance of rare female infertility due to hypothalamic-pituitary-gonadal axis disorder that is caused by a modification of the individual's genome." "True" "true" + "obsolete rare female infertility due to adrenal disorder of genetic origin" "True" "true" + "obsolete female infertility due to an anomaly of ovarian function of genetic origin" "True" "true" + "female infertility due to an implantation defect of genetic origin" "True" + "obsolete hymenolepiasis" "" "true" + "autosomal recessive spastic paraplegia type 59" "" + "autosomal recessive spastic paraplegia type 60" "" + "autosomal recessive spastic paraplegia type 66" "" + "autosomal recessive spastic paraplegia type 67" "Autosomal recessive spastic paraplegia type 67 is an extremely rare, complex hereditary spastic paraplegia characterized by an infancy or childhood onset of global developmental delay and progressive spasticity with tremor in the distal limbs, increased deep tendon reflexes and extensor plantar responses, which may be associated with mild intellectual disability. Additional features include muscle wasting and cerebellar abnormalities." "" + "autosomal recessive spastic paraplegia type 68" "" + "autosomal recessive spastic paraplegia type 69" "" + "autosomal recessive spastic paraplegia type 70" "Autosomal recessive spastic paraplegia type 70 is a very rare, complex subtype of hereditary spastic paraplegia that presents in infancy with delayed motor development (i.e. crawling, walking) and is characterized by lower limb spasticity, increased deep tendon reflexes, extensor plantar responses, impaired vibratory sensation at ankles, amyotrophy and borderline intellectual disability. Additional signs may include gait disturbances, Achilles tendon contractures, scoliosis and cerebellar abnormalities." "" + "autosomal recessive spastic paraplegia type 71" "" + "sulfur metabolism disease" "A disease that has its basis in the disruption of sulfur compound metabolic process." "" + "Huntington disease-like syndrome due to C9ORF72 expansions" "" + "AXIN2-related attenuated familial adenomatous polyposis" "" + "obsolete fibrolamellar carcinoma" "" "true" + "9q31.1q31.3 microdeletion syndrome" "" + "14q24.1q24.3 microdeletion syndrome" "" + "partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome" "A rare, hereditary, cerebral malformation with epilepsy syndrome characterized by severe global developmental delay with no ability to walk and no verbal language, intractable epilepsy, partial agenesis of the corpus callosum and cerebellar vermis hypoplasia with posterior fossa cysts." "" + "acute myeloid leukemia with t(6;9)(p23;q34)" "Acute myeloid leukemia with t(6;9)(p23;q34) is a rare subtype of acute myeloid leukemia with recurrent genetic abnormalities characterized by clonal proliferation of poorly differentiated myeloid blasts in the bone marrow, blood, or other tissues in patients who present the t(6;9)(p23;q34) translocation. Frequently associated with multilineage bone marrow dysplasia, it usually presents with anemia, thrombocytopenia (often pancytopenia), and other nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly). Basophilia, as well as poor response to chemotherapy, has been reported." "" + "acute myeloid leukemia with t(9;11)(p22;q23)" "" + "acute myeloid leukemia with inv3(p21;q26.2) or t(3;3)(p21;q26.2)" "Acute myeloid leukemia with inv(3)(q21;q26.2) or t(3;3)(q21;q26.2) is a subtype of acute myeloid leukemia with recurrent genetic abnormalities characterized by clonal proliferation of myeloid blasts in the bone marrow, blood and, rarely, other tissues. Bone marrow typically shows small, hypolobated megakaryocytes and multilineage dyslplasia. Patients typically present with leukocytosis, anemia, variable platelet counts and a variety of nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding, bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly). High resistance to conventional chemotherapy is reported." "" + "megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13)" "Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13) is a rare subtype of acute myeloid leukemia with recurrent cytogenetic abnormalities characterized by clonal proliferation of myeloid blasts with predominantly megakaryoblastic differentiation in the bone marrow and blood, often with extensive infiltration of the abdominal organs. It occurs typically in infants and usually presents with hepatosplenomegaly, anemia, thrombocytopenia and nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections). Myelofibrosis and fibrosis of other infiltrated organs is also characteristic of this disease." "" + "acute myeloid leukemia with NPM1 somatic mutations" "Acute myeloid leukemia with NPM1 somatic mutations is a subtype of acute myeloid leukemia with recurrent genetic abnormalities characterized by clonal proliferation of myeloid blasts harboring mutations of the NPM1 gene in the bone marrow, blood and other tissues. It is associated with multilineage dysplasia, involving the myeloid, monocytic, erythroid, and megakaryocytic cell lineages. Patients usually present with leukocytosis, thrombocytosis and nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain), with frequent extramedullary involvement typically presenting as gingival hyperplasia and lymphadenopathy." "" + "eosinophilic colitis" "Inflammation of the colon that is characterized by eosinic infiltration." "" + "obsolete hepatitis delta" "" "true" + "acitretin/etretinate embryopathy" "Acitretin/Etretinate embryopathy is a teratogenic disorder due to acitretin or etretinate exposure during the first trimester of pregnancy, carrying a risk of fetal malformations of approximately 20%, including central nervous system, craniofacial, ear, thymic, cardiac and limb anomalies." "" + "FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome" "" + "female infertility due to fertilization defect" "True" + "global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome" "" + "chondromyxoid fibroma" "An uncommon benign cartilaginous neoplasm arising from the bone. It is characterized by the presence of spindle-shaped or stellate chondrocytes, a lobulated growth pattern, myxoid stroma formation, and sometimes multinucleated giant cells. It has been associated with chromosomal rearrangement of 6q13 and 6q25 bands. The most common clinical symptom is mild, localized pain." "" + "clear cell papillary renal cell carcinoma" "Clear cell papillary renal cell carcinoma is a rare, indolent subtype of clear cell renal carcinoma, arising from epithelial cells in the renal cortex. It most frequently manifests with a well-circumscribed, well-encapsulated, unicentric, unilateral, small tumor that typically does not metastasize. Clinically it can present with flank or abdominal pain or hematuria, although most patients are usually asymptomatic at the time of diagnosis. Bilateral and/or multifocal presentation should raise the suspicion of von Hippel-Lindau syndrome." "" + "acquired cystic disease-associated renal cell carcinoma" "Acquired cystic disease-associated renal cell carcinoma is a rare subtype of renal cell carcinoma, ocurring in the context of end-stage kidney disease and acquired cystic kidney disease, characterized by a usually well circumscribed, solid, multifocal, bilateral tumor with inter- or intracellular microlumen formation (leading to cribiform architecture). Tumors are often diagnosed incidentally in early stages, although complications caused by renal cysts (dull flank or abdominal pain, fever) or renal parenchymal bleeding may mask the underlying neoplastic process. Most have an indolent behavior." "" + "spinal muscular atrophy with respiratory distress type 2" "Spinal muscular atrophy with respiratory distress type 2 is a rare, genetic, motor neuron disease characterized by progressive early respiratory failure associated with diaphragm paralysis, distal muscular weakness, joint contractures, and axial hypotonia with preserved antigravity limb movements. Phenotype overlaps considerably with SMARD type 1 but is differentiated by a mutation in a different gene." "" + "obsolete deficiency of the interleukin-36 receptor antagonist" "" "true" + "polyarticular juvenile idiopathic arthritis" "" + "Eales disease" "Eales disease (ED) is an idiopathic, inflammatory retinal venous occlusive disease characterized by 3 stages: vasculitis, occlusion and retinal neovascularization, leading to recurrent vitreous hemorrhages and vision loss." "" + "Angelman syndrome due to a point mutation" "" + "Angelman syndrome due to imprinting defect in 15q11-q13" "" + "mild phosphoribosylpyrophosphate synthetase superactivity" "Mild phosphoribosylpyrophosphate (PRPP) synthetase superactivity is the mild and late-onset form of PRPP synthetase superactivity, an X-linked disorder of purine metabolism associated with hyperuricemia and hyperuricosuria, leading to urolithiasis and gout. This form is not associated with any neuropathy or central nervous system (CNS) disorders." "" + "severe phosphoribosylpyrophosphate synthetase superactivity" "Severe phosphoribosylpyrophosphate (PRPP) synthetase superactivity is the severe and early-onset form of PRPP synthetase superactivity, an X-linked disorder of purine metabolism associated with hyperuricemia and hyperuricosuria, that is characterized by urolithiasis, gout and neurodevelopmental anomalies." "" + "insulin autoimmune syndrome" "Insulin autoimmune syndrome is a rare condition that causes low blood sugar (hypoglycemia). This occurs because the body begins to make a specific kind of protein called antibodies to attack insulin. Insulin is a naturally occurring hormone that is responsible for keeping blood sugar at a normal level. When blood sugar levels get too high, insulin helps to store the sugar for future use. People affected by insulin autoimmune syndrome have antibodies that attack insulin, causing it to work too hard and the level of blood sugar to become too low. Insulin autoimmune syndrome most often begins during adulthood." "" + "obsolete hereditary late onset Parkinson disease" "" "true" + "nephropathic infantile cystinosis" "Nephropathic infantile cystinosis is the most common and severe form of cystinosis, a metabolic disease characterized by an accumulation of cystine inside the lysosomes that causes damage in different organs and tissues, particularly in the kidneys and eyes." "" + "proton-pump inhibitor-responsive esophageal eosinophilia" "Proton-pump inhibitor-responsive esophageal eosinophilia (PPI-REE) is a rare, gastroenterologic disease characterized by typical clinical, endoscopic and histological features of eosinophilic oesophagitis (i.e. symptomatic oesophageal dysfunction associated with eosinophil-predominant mucose infiltrate) which completely remits upon proton pump inhibitor therapy." "" + "generalized eruptive keratoacanthoma" "Generalized eruptive keratoacanthoma (GEKA) is rare variant of keratoacanthoma (KA) that affects the skin and mucous membranes and which is characterized by a sudden generalized eruption of severely pruritic, hundreds to thousands of small follicular papules, often with a central keratotic plug." "" + "familial isolated trichomegaly" "Familial isolated trichomegaly is a rare genetic hair anomaly characterized by a prolonged anagen phase of the eyelash hairs, leading to extreme eyelash growth that may result in corneal irritation. Increased growth of hair on other parts of the face (eyebrows, cheeks, forehead) and/or the body (chest, arms, legs) may be associated." "" + "genetic hair anomaly" "An instance of hair anomaly that is caused by a modification of the individual's genome." "" + "hyperlipoproteinemia type 3" "Hyperlipoproteinemia (HLP) type 3 is a rare combined hyperlipidemia characterized by high levels of cholesterol and triglycerides, transported by intermediate density lipoproteins (IDLs), and a high risk of premature atherosclerosis and cardiovascular disease." "" + "13q12.3 microdeletion syndrome" "13q12.3 microdeletion syndrome is a rare chromosomal anomaly characterized by moderate intellectual disability, speech delay, postnatal microcephaly, eczema or atopic dermatitis, characteristic facial features (malar flattening, prominent nose, underdeveloped alae nasi, smooth philtrum, and thin vermillion of the upper lip), and reduced sensitivity to pain." "" + "PRKAR1B-related neurodegenerative dementia with intermediate filaments" "" + "dystonia-aphonia syndrome" "" + "obsolete primary hyperoxaluria" "" "true" + "carcinoma of esophagus, salivary gland type" "" + "undifferentiated carcinoma of esophagus" "An esophageal carcinoma characterized by the absence of microscopic features of squamous differentiation. However, there is immunohistochemical evidence of squamous differentiation." "" + "obsolete squamous cell carcinoma of stomach" "" "true" + "secondary pulmonary alveolar proteinosis" "A form of pulmonary alveolar proteinosis that arises in association with hematological disorders, medications, certain infections, acute silicosis, and immunodeficiency." "" + "semicircular canal dehiscence syndrome" "Semicircular canal dehiscence (SCD) syndrome is a rare otorhinolaryngologic disease characterized by the uni- or bilateral dehiscence of the bone(s) overlying the superior (most common), lateral or posterior semicircular canal(s). Patients present audiological (autophony, aural fullness, conductive hearing loss, pulsatile tinnitus) and/or vestibular symptoms (sound or pressure-evoked oscillopsia or vertigo, characteristic vertical-torsional eye movements), depending on which semicircular canal is affected. Posterior SCD syndrome is associated with high-riding jugular bulb and fibrous dysplasia, while lateral SCD syndrome is associated with chronic otitis media and cholesteatoma, with or without audiological and vestibular symptoms." "" + "glycogen storage disease due to acid maltase deficiency, late-onset" "Glycogen storage disease due to acid maltase deficiency, late onset (AMDL), a form of Glycogen storage disease due to acid maltase deficiency (AMD), a degenerative metabolic myopathy particularly affecting respiratory and skeletal muscles, is characterized by an accumulation of glycogen in lysosomes." "" + "visual snow syndrome" "Visual snow syndrome is described as a persistent visual problem characterized by seeing snow-like dots. Migraines are a common symptom. Many people also see drifting blobs of varying size and shape (floaters), visual effects (entopic phenomenon), glare, halos, starbursts, trails, odd colors and shapes, and may have persistent recurrence of a visual image (palinopsia) and double vision. Additional symptoms may include fatigue, tinnitus, or depersonalization and depression. Most people have normal vision tests and normal brain images. Standard migraine treatments are often not helpful. There is no cure or effective treatment to completely relieve the symptoms, but medication seems to help some people with visual snow." "" + "autosomal recessive severe congenital neutropenia due to CXCR2 deficiency" "" + "obsolete rare genetic odontal or periodontal disorder" "True" "true" + "autoimmune encephalopathy with parasomnia and obstructive sleep apnea" "Autoimmune encephalopathy with parasomnia and obstructive sleep apnea is a rare neurologic disorder characterized by a unique non-REM and REM parasomnia with sleep breathing dysfunction, gait instability and repetitive episodes of respiratory insufficiency, as well as autoantibodies against IgLON5. Patients may present stridor, chorea, limb ataxia, abnormal ocular movements, and bulbar symptoms (i.e. dysphagia, dysarthria, episodic central hypoventilation) with normal brain MRI. Excessive day sleepiness and cognitive deterioration have also been reported." "" + "cono-spondylar dysplasia" "Cono-spondylar dysplasia is a rare genetic primary bone dysplasia disorder characterized by early-onset severe lumbar kyphosis, marked brachydactyly and irregular, pronounced cone epiphyses of the metacarpals and phalanges. Additional reported features include developmental delay, intellectual disability, hypotonia, epileptic seizures and mild facial dysmorphism (incl. long and thin or square-shaped face, slight mid-face hypoplasia, hypertelorism, epicanthic folds, low-set ears, anteverted nostrils). Radiographic findings also reveal hypoplasia of iliac wings and anterior defect of vertebral bodies." "" + "microcephaly-short stature-intellectual disability-facial dysmorphism syndrome" "Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome is a rare genetic malformation syndrome with short stature characterized by postnatal microcephaly, failure to thrive and short stature, global developmental delay and intellectual disability, hypotonia, dysmorphic features (short nose, depressed nasal bridge, low set ears, short neck, clinodactyly and cutaneous syndactyly of T2-3 at birth and broad forehead, midface retrusion, epicanthal folds, laterally sparse eyebrows, short nose, long philtrum, widely spaced teeth, micrognathia and coarsening of facial features later in life). Other associated features include postnatal transient generalized edema, myopia, strabismus, hypothyroidism." "" + "X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome" "X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome is a rare genetic neurometabolic disease characterized by severe intellectual disability, spastic quadraparesis, Leber´s congenital amaurosis and diabetes insipidus. Additional manifestations include facial dysmorphy (dolichocephalic skull, hypertelorism, deep-set eyes, hypoplastic nares, low-set ears), short stature, truncal hypotonia and axial hypertonia. Brain anomalies (e.g. thin corpus callosum with lack of isthmus and tapered splenium, hypoplasia or atrophy of the optic chiasm, prominent lateral ventricles, diminished white matter), described on magnetic resonance imaging, have been reported. High prenatal α-fetoprotein and intrauterine growth restriction is observed in routine pregnancy examination." "" + "obsolete rare autonomic nervous system disorder" "Rare autonomic nervous system disease." "True" "true" + "double outlet right ventricle with subaortic or doubly committed ventricular septal defect" "" + "double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy" "" + "cutaneous larva migrans" "Cutaneous larva migrans is a rare parasitic disease characterized by single or multiple, linear or serpinginous, erythematous, slightly elevated cutaneous tracks caused by the larval migration of various nematode species. Tracks are variable in length, generally a few millimeters wide and are frequently located on the feet (although any area of the body is possible). Patients typically present with severe, intractable pruritus, which, in some cases, may cause impaired concentration, loss of sleep, and mood disturbances." "" + "obsolete rare carcinoma of stomach" "Rare stomach carcinoma." "True" "true" + "carcinoma of stomach, salivary gland type" "" + "undifferentiated carcinoma of stomach" "A carcinoma that arises from the stomach and is characterized by the absence of microscopic features of glandular or squamous differentiation." "" + "obsolete rare tumor of small intestine" "Any of the forms of small intestine neoplasm that have a rare incidence." "True" "true" + "microcephaly-complex motor and sensory axonal neuropathy syndrome" "Microcephaly-complex motor and sensory axonal neuropathy syndrome is an extremely rare subtype of hereditary motor and sensory neuropathy characterized by severe, rapidly-progressing, distal, symmetric polyneuropathy and microcephaly (which can be evident in utero) with intact cognition. Clinically it presents with delayed motor development, hypotonia, absent or reduced deep tendon reflexes, progressive muscle wasting and weakness and scoliosis." "" + "obsolete rare carcinoma of small intestine" "Any of the forms of small intestine carcinoma that have a rare incidence." "True" "true" + "obsolete rare epithelial tumor of colon" "Any of the forms of epithelial tumor of colon that have a rare incidence." "True" "true" + "obsolete rare epithelial tumor of rectum" "Any of the forms of epithelial neoplasm of rectum that have a rare incidence." "True" "true" + "obsolete obsolete carcinoma of the anal canal" "" "true" + "obsolete adenocarcinoma of the anal canal" "" "true" + "obsolete squamous cell carcinoma of the anal canal" "" "true" + "obsolete rare epithelial tumor of pancreas" "True" "true" + "obsolete acinar cell carcinoma of pancreas" "" "true" + "obsolete intraductal papillary mucinous carcinoma of pancreas" "" "true" + "solid pseudopapillary carcinoma of pancreas" "A malignant neoplasm arising from the exocrine pancreas. It occurs predominantly in young women. It is characterized by the presence of extensive necrosis and hemorrhage and is composed of polyhedral cells forming solid and pseudopapillary patterns. There is morphologic evidence of perineural invasion, vascular invasion, or extensive invasion into the surrounding tissues." "" + "obsolete serous cystadenocarcinoma of pancreas" "" "true" + "osteoclastic giant cell tumor of pancreas" "" + "congenital myopathy with myasthenic-like onset" "Congenital myopathy with myasthenic-like onset is a rare, genetic, non-dystrophic myopathy characterized by fatigable muscle weakness associated with congenital myopathy. Patients present with axial hypotonia, myopathic facies with fatigable ptosis, feeding difficulties, delayed gross motor development and proximal limb weakness with a RYR1-related typical pattern of muscle involvement (i.e. severe involvement of the soleus muscle and sparring of the rectus femoris, sartorius, gracilis and semitendinous muscles). Scoliosis and frequent respiratory tract infections are additional observed features." "" + "obsolete rare epithelial tumor of liver and intrahepatic biliary tract" "True" "true" + "undifferentiated carcinoma of liver and intrahepatic biliary tract" "Undifferentiated carcinoma of liver and intrahepatic biliary tract is an extremely rare epithelial tumor of the liver and biliary tract which presents heterogenous histological findings and not yet fully defined clinicopathological characterisitcs. Patients usually present with nonspecific signs and symptoms, such as abdominal pain, nausea, vomiting, anorexia, weight loss and/or jaundice. Invasive growth, hight metastatic potential and a rapid clinical course are typically associated." "" + "biliary cystadenocarcinoma" "A cystadenocarcinoma that involves the biliary tree." "" + "adenocarcinoma of gallbladder and extrahepatic biliary tract" "Adenocarcinoma of the gallbladder and extrahepatic biliary tract is a rare epithelial carcinoma, arising either in the gallbladder itself or from the epithelium lining the extrahepatic biliary tree, cystic duct and/or peribiliary gland, characterized by nonspecific symptoms, such as abdominal pain, jaundice and vomiting and sometimes mimicking benign biliary diseases. Chronic biliary epithelial inflammation (e.g. primary sclerosing cholangitis, cholelithiasis, choledocholithiasis, liver fluke infestation) is a major risk factor." "" + "carcinoma of gallbladder and extrahepatic biliary tract" "Carcinoma of the gallbladder (GBC) is the most common and aggressive form of biliary tract cancer (BTC) usually arising in the fundus of the gallbladder, rapidly metastasizing to lymph nodes and distant sites." "" + "squamous cell carcinoma of gallbladder and extrahepatic biliary tract" "Squamous cell carcinoma of the gallbladder and extrahepatic biliary tract is a rare hepatic and biliary tract tumor, arising either in the gallbladder itself or in the epithelium lining the extrahepatic biliary tree, the cystic duct and peribiliary glands. It is characterized by a substantial keratinization with abundant keratohyalin pearls and central deposition of dense keratin material within infiltrative nests and locally aggressive nature. In the early stages of the disease symptoms are vague and nonspecific (abdominal pain, jaundice and vomiting). In the advanced stages it may present with a bulky tumor and symptoms of adjacent organ involvement." "" + "obsolete rare epithelial tumor of small intestine" "True" "true" + "PFAPA syndrome" "An auto inflammatory syndrome characterized by recurrent febrile episodes associated with aphthous stomatitis, pharyngitis and cervical adenitis." "" + "obsolete primary immunodeficiency with predisposition to severe viral infection" "" "true" + "serotonin syndrome" "Serotoninergic syndrome is characterised by an excess of serotonin in the central nervous system, associated with the use of various agents, including selective serotonin reuptake inhibitors (SSRIs)." "" + "acute tricyclic antidepressant poisoning" "Acute tricyclic antidepressant (TCA) poisoning is a potentially lethal intoxication that is characterized by life-threatening arrhythmias (sinus tachycardias, premature ventricular contractions, ventricular arrhythmias), anticholinergic toxidrome (mydriasis, dry mucous membrane, tachycardia, hypertension), central nervous system toxicity (lethargy, coma, myoclonic jerks), refractory hypotension, and sudden death." "" + "acute poisoning by drugs with membrane-stabilizing effect" "Acute poisoning with a membrane-stabilizing effect is potentially life-threatening. The principle drugs involved are tricyclic antidepressants, chloroquine, some types of beta blockers, class IA antiarrhythmics, carbamazepin and cocaine." "" + "patent urachus" "Patent urachus is a type of congenital urachal anomaly characterized by a persistent communication between the bladder and the umbilicus, secondary to non occlusion of the urachal lumen, manifesting as clear drainage from the umbilicus." "" + "congenital urachal anomaly" "Congenital urachal anomaly (CUA) describes a group of urachal remnants, found more frequently in males than females, that result from incomplete closure of the urachus (an embryological remnant of the allantois) during prenatal development, and that are usually asymptomatic (and found as an incidental finding on a radiological study) but can also present with umbilical discharge (in patent urachus or urachal sinus), infraumblical mass and pain, or with complications such as obstruction and infection. CUAs include patent urachus, urachal sinus, urachal cyst and urachal diverticulum." "" + "urachal sinus" "Urachal sinus is a type of congenital urachal anomaly resulting from the failure of the umbilical end of the urachus to close, without continuity to the bladder, and that is usually asymptomatic but can present with continuous cloudy umbilical discharge, tender midline infraumbilical mass and fever when infected." "" + "urachal diverticulum" "Urachal diverticulum is the rarest type of congenital urachal anomaly resulting from the failure of the distal urachus to close at its point of connectivity to the bladder that is usually asymptomatic but can be associated with recurrent urinary tract infections and other complications." "" + "Lambert-Eaton myasthenic syndrome" "Lambert-Eaton myasthenic syndrome (LEMS) is an autoimmune, presynaptic disorder of neuromuscular transmission characterized by fluctuating muscle weakness and autonomic dysfunction frequently associated with small-cell lung cancer (SCLC)." "" + "obsolete rare genetic autonomic nervous system disorder" "Rare genetic autonomic nervous system disease." "True" "true" + "anterior urethral valve" "" + "3p25.3 microdeletion syndrome" "3p25.3 microdeletion syndrome is a rare chromosomal anomaly characterized by intellectual disability, epilepsy or EEG abnormalities, poor speech, ataxia, and stereotypic hand movements." "" + "short stature-advanced bone age-early-onset osteoarthritis syndrome" "" + "autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation" "" + "obsolete COG2-CDG" "" "true" + "X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome" "X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome is a rare syndromic intellectual disability characterized by hypotonia, microcephaly, severe developmental delay, seizures, intellectual disability, growth retardation, cardiovascular septal defects, cryptorchidism, hypospadias, and dysmorphic features - prominent ears, prognathism, thin upper lip, dental crowding." "" + "contractures-developmental delay-Pierre Robin syndrome" "" + "severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome" "" + "intrauterine growth restriction-short stature-early adult-onset diabetes syndrome" "" + "non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy" "" + "pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa" "" + "obsolete hypophosphatemic rickets" "" "true" + "progressive encephalomyelitis with rigidity and myoclonus" "" + "GCGR-related hyperglucagonemia" "" + "human infection by orthopoxvirus" "" + "obsolete placental insufficiency" "" "true" + "pediatric arterial ischemic stroke" "" + "zinc-responsive necrolytic acral erythema" "" + "non-recovering obstetric brachial plexus lesion" "" + "ALECT2 amyloidosis" "A rare, systemic amyloidosis characterized by slowly progressive renal disease presenting with proteinuria, hypertension and decreased glomerular filtration rate leading to progressive renal failure. Histology reveals amyloid deposits of leukocyte chemotactic factor-2 protein in the renal cortical interstitium, tubular basement membranes, glomeruli and the vessel walls. Extra-renal deposits can be seen in the liver, lungs, spleen and adrenal glands." "" + "AApoAIV amyloidosis" "" + "cutaneous polyarteritis nodosa" "Cutaneous polyarteritis nodosa (CPAN) is a rare limited form of polyarteritis nodosa (PAN), characterized by cutaneous vasculitis and mild and transient extracutaneous manifestations such as mild arthralgia, arthritis,myalgia, and rarely peripheral neuropathy." "" + "primary polyarteritis nodosa" "" + "polyarteritis nodosa" "Polyarteritis nodosa (PAN) is a rare, clinically heterogeneous, rheumatologic disease characterized by necrotizing inflammatory lesions affecting small- and medium-sized blood vessels. PAN most commonly affects skin, joints, peripheral nerves, the gut, and the kidney." "" + "secondary polyarteritis nodosa" "Secondary polyarteritis nodosa (PAN) is a rare serious form of PAN characterized by vasculitis in a background of viral infection, primarily with hepatitis B virus (HBV)." "" + "single-organ polyarteritis nodosa" "Single-organ polyarteritis nodosa (PAN) is a rare, often mild form of PAN characterized by limited disease without generalized manifestations, most often affecting the skin (cutaneous PAN), the brain, eyes, pancreas, testicles, ureter, breasts, or ovaries. Affected patients are often younger than those with systemic PAN and relapses appear to be more common." "" + "systemic polyarteritis nodosa" "Systemic polyarteritis nodosa (PAN) is a chronic systemic necrotizingvasculitis of adults and childrenaffecting small- and medium-sized vessels and characterized by formation of microaneurysms leading to serious generalized disease and multi-organ involvement." "" + "plastic bronchitis" "A lymphatic flow disorder that causes severe respiratory issues. In children with plastic bronchitis, lymph fluid builds in the airways and forms rubbery or caulk-like plugs (known as casts). These casts block the airways, making it difficult to breathe." "" + "obsolete neonatal adrenoleukodystrophy" "Neonatal adrenoleukodystrophy (NALD) is the variant of intermediate severity of the PBD-Zellweger syndrome spectrum (PBD-ZSS), charcterized by hypotonia, leukodystrophy, and vision and sensorineural hearing deficiencies. Phenotypic overlap is seen between NALD and infantile Refsum disease (IRD)." "" "true" + "congenital oculomotor nerve palsy" "" + "congenital abducens nerve palsy" "" + "autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome" "" + "necrotizing soft tissue infection" "" + "interstitial lung disease due to SP-C deficiency" "" + "familial colorectal cancer type X" "Hereditary nonpolyposis colorectal cancer characterized by the absence of germline mutations in DNA mismatch-repair genes." "" + "extensive peripapillary myelinated nerve fibers" "" + "combined hamartoma of the retina and retinal pigment epithelium" "" + "pure autonomic failure" "Pure autonomic failure (PAF) is a neurodegenerative disease that affects the sympathetic branch of the autonomous nervous system and that manifests with orthostatic hypotension." "" + "early-onset posterior subcapsular cataract" "" + "early-onset lamellar cataract" "" + "AH amyloidosis" "" + "hemicrania continua" "Hemicrania continua (HC) is a type of primary headache disorder, which means the headache is not caused by another medical condition. Symptoms of HC include constant mild to moderate pain on one side of the head (unilateral) with periods of more intense, severe, migraine -like pain (exacerbations). These severe pain periods can last from 20 minutes to days. The frequency of exacerbations also varies greatly. The headache stays on the same side of the head and usually without pain free periods. HC is more common in women and most often starts in adulthood, but may begin anywhere from 5 to 67 years of age. Diagnosis of hemicrania continua (HC) is made by ruling out other possible causes of the pain and by clinical symptoms. During the periods of severe pain, at least one of the following symptoms must be present on same side of the body as the headache: watering or red eyes (conjunctival injection), congested or runny nose, or drooping eyelid. In addition, the headache pain must respond to treatment with indomethacin. The cause of HC is unknown. Other treatments for those who cannot tolerate long term indomethacin therapy are being studied." "" + "central serous chorioretinopathy" "Central serous chorioretinopathy is a disease that causes fluid to build up under the retina, the back part of the inner eye that sends sight information to the brain. The fluid leaks from thechoroid (theblood vessel layer under the retina). The cause of this condition is unknown but stress can be a risk factor. Signs and symptoms include dim and blurred blind spot in the center of vision, distortion of straight linesand seeingobjectsas smaller or farther away. Many cases of central serous chorioretinopathy improve without treatment after 1-2 months. Laser treatment may be an option for other individuals." "" + "baroreflex failure" "Baroreflex failure is a rare disorder that causes fluctuations in blood pressure with episodes of severe hypertension (high blood pressure) and elevated heart rate in response to stress, exercise, and pain. Individuals may also have hypotension (low blood pressure) with normal or reduced heart rate during periods of rest. Symptoms of baroreflex failure may include headache, sweating, and a heart rate that does not respond to medications. The onset of baroreflex failure may be very abrupt or more gradual. In many cases, the cause of baroreflex failure is not known. However, baroreflex failure can result from surgery or radiation treatment for cancers of the neck, injury to the nerves involved in sensing blood pressure, or a degenerative neurologic disease. Treatment usually involves medications to control blood pressure and heart rate along with stress reduction techniques." "" + "obsolete hyperinsulinemic hypoglycaemia" "" "true" + "hypothalamic adipsic hypernatraemia syndrome" "" + "lymphoplasmacytic lymphoma without IgM production" "" + "obsolete nut midline carcinoma" "" "true" + "postpartum psychosis" "Postpartum psychosis is a rare psychiatric emergency in which symptoms of high mood and racing thoughts (mania), depression, severe confusion, loss of inhibition, paranoia, hallucinations and delusions set in, beginning suddenly in the first two weeks after childbirth. The symptoms vary and can change quickly." "" + "puerperal disorder" "Disorders or diseases associated with puerperium, the six-to-eight-week period immediately after parturition in humans." "" + "spontaneous intracranial hypotension" "" + "classic stiff person syndrome" "" + "paratyphoid fever" "A condition resembling typhoid fever that is caused by infection by Salmonella enterica serovar Parathyphi." "" + "HIV-associated cancer" "" + "focal stiff limb syndrome" "" + "11q22.2q22.3 microdeletion syndrome" "" + "20q11.2 microdeletion syndrome" "20q11.2 microdeletion syndrome is a rare, genetic, syndromic intellectual disability characterized by psychomotor delay, hypotonia, feeding difficulties, failure to thrive, anomalies of the hands and feet (clinodactyly, camptodactyly, brachydactyly, feet malposition), and craniofacial dysmorphism. Associated prenatal growth retardation, and gastrointestinal, heart and eye anomalies have been reported." "" + "idiopathic phalangeal acro-osteolysis" "" + "autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome" "" + "pseudohypoaldosteronism" "An inherited or acquired disorder of electrolyte metabolism, characterized by the inability of the renal tubules to respond to aldosterone. It is manifested by hyperkalemic metabolic acidosis, urinary salt wasting, normal or increased aldosterone secretion and normal glomerular filtration rate." "" + "obsolete paroxysmal nocturnal hemoglobinuria" "" "true" + "NIK deficiency" "A immunodeficiency disorder caused by loss of function mutation in NIK (MAP3K14)." "" + "susceptibility to localized juvenile periodontitis" "" + "autosomal dominant complex spastic paraplegia type 9B" "" + "IgG4-related sclerosing cholangitis" "" + "secondary sclerosing cholangitis" "" + "Keratocystic odontogenic tumor" "An intraosseous odontogenic neoplasm that usually arises from the mandible. It is characterized by the presence of a single or multiple cysts lined with parakeratinized stratified squamous epithelium. The neoplastic lesions may be solitary or multiple. It has the potential for aggressive behavior, local destruction, and recurrence." "" + "cerebral visual impairment" "A vision disorder that results from damage of the part of the cerebral cortex that is involved in the processing of visual information." "True" + "obsolete hemochromatosis type 5" "" "true" + "obsolete lipoyl transferase 2 deficiency" "" "true" + "obsolete biological anomaly without phenotypic characterization" "" "true" + "Polymerase proofreading-related adenomatous polyposis" "" + "idiopathic dropped head syndrome" "" + "hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome" "" + "tremor-ataxia-central hypomyelination syndrome" "" + "pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome" "" + "19p13.3 microduplication syndrome" "19p13.3 microduplication syndrome is a rare, genetic, syndromic intellectual disability characterized by intrauterine growth retardation, microcephaly, hypotonia, motor and neurodevelopmental delay, speech delay, intellectual disability, and mild dysmorphic features." "" + "partial duplication of the short arm of chromosome 19" "" + "obsolete rare hemorrhagic disorder due to a constitutional coagulation factors defect" "True" "true" + "regressive spondylometaphyseal dysplasia" "" + "ectopia cordis" "A rare congenital anomaly where the heart is formed outside of the thoracic cavity. It is associated with intracardiac lesions and other structural malformations." "" + "X-linked acrogigantism due to a point mutation" "" + "scedosporiosis" "" + "snakebite envenomation" "" + "symptomatic form of fragile X syndrome in female carrier" "" + "IgG4-related kidney disease" "" + "IgG4-related aortitis" "" + "IgG4-related pachymeningitis" "Idiopathic hypertrophic pachymeningitis (IHP) is a rare disorder causing inflammation and thickening of the outer layer (dura) of the brain and/or spinal cord. IHP can be widespread or cause tumor-like lesions. Before IHP can be diagnosed, other conditions including sarcoidosis, tumors, meningioma, infections (syphilis, tuberculosis, and Lyme disease), and autoimmune diseases (rheumatoid arthritis, Sjogrenbs syndrome, Wegenerbs granulomatosis, and IgG4-related disease) must be ruled out. IHP often presents with headache and cranial nerve impairment. Treatment may involve prednisone and/or an immune suppressing drug. This treatment often improves symptoms, however complete recovery is rare. Surgery may be recommended for people with advanced or severe IHP. Some people with IHP have no symptoms and may not need treatment." "" + "IgG4-related submandibular gland disease" "A chronic fibrotic inflammatory process affecting the salivary gland. Signs and symptoms include firm and painful swelling of the salivary gland, often associated with the presence of salivary gland stones." "" + "IgG4-related ophthalmic disorder" "A IgG4-related disease that involves the eye." "" + "eosinophilic angiocentric fibrosis" "" + "heart position anomaly" "" + "polyclonal hyperviscosity syndrome" "" + "primary cutaneous plasmacytosis" "" + "cutaneous pseudolymphoma" "A pseudolymphoma of the skin." "" + "congenital insensitivity to pain with severe intellectual disability" "" + "acquired ichthyosis" "Noninherited ichthyosis associated with malignancy; autoimmune, inflammatory, nutritional, metabolic, infectious, and neurologic diseases; or medications." "" + "idiopathic neonatal atrial flutter" "Idiopathic neonatal atrial flutter (AFL) is a rare rhythm disorder, characterized by sustained tachycardia in newborns and infants with an atrial rate often at around 440 beats/minute (range 340-580). AFL may manifest as asymptomatic tachycardia, congestive heart failure or hydrops." "" + "incessant infant ventricular tachycardia" "Incessant infant ventricular tachycardia is a rare type of ventricular tachycardia (VT) characterized by the presence of tachycardia originating from the ventricles, observed for more than 10% of a 24 hour monitoring period. Patients are either asymptomatic or present congestive heart failure." "" + "encephalopathy, bovine spongiform" "A transmissible spongiform encephalopathy of cattle associated with abnormal prion proteins in the brain. Affected animals develop excitability and salivation followed by ataxia. This disorder has been associated with consumption of scrapie infected ruminant derived protein. This condition may be transmitted to humans, where it is referred to as variant or new variant creutzfeldt-jakob syndrome. (Vet Rec 1998 Jul 25;143(41):101-5)" "" + "progressive muscular atrophy" "A rare, milder form of amyotrophic lateral sclerosis. It is characterized by a slowly progressive clinical course. Signs and symptoms include muscle weakness, atrophy, and fasciculation." "" + "anti-p200 pemphigoid" "" + "plasma cell leukemia" "An aggressive plasma cell neoplasm characterized by the presence of neoplastic plasma cells in the peripheral blood. It is characterized by the presence of a circulating clonal plasma cell count that exceeds 2x10^9/L or is 20% of the leukocyte differential count." "" + "Holmes-Adie syndrome" "A rare syndrome characterized by an abnormally dilated pupil, hypoflexia, and diaphoresis. The syndrome is usually caused by a viral or bacterial infection. The abnormally dilated pupil is caused by damage to postganglionic parasympathetic fibers innervating the eye." "" + "obsolete endometrioid carcinoma of ovary" "" "true" + "variably protease-sensitive prionopathy" "" + "obsolete kuru" "" "true" + "isolated tracheo-esophageal fistula" "A congenital or acquired abnormal communication between the trachea and the esophagus." "" + "avian influenza" "Infection of domestic and wild fowl and other birds with influenza A virus. Avian influenza usually does not sicken birds, but can be highly pathogenic and fatal in domestic poultry." "" + "corticobasal syndrome" "Corticobasal syndrome (CBS) is a rare neurodegenerative disease characterized by multifaceted motor system dysfunctions and cognitive defects such as asymmetric rigidity, bradykinesia, limb apraxia, and visuospatial dysfunction." "" + "1p35.2 microdeletion syndrome" "" + "hereditary neuroendocrine tumor of small intestine" "An instance of neuroendocrine tumor of the small intestine that is caused by an inherited modification of the individual's genome." "" + "obsolete pseudohypoparathyroidism with Albright hereditary osteodystrophy" "" "true" + "obsolete pseudohypoparathyroidism without Albright hereditary osteodystrophy" "" "true" + "Castleman-Kojima disease" "A clinicopathologic variant of multicentric Castleman's disease characterized by thrombocytopenia, ascites (anasarca), microcytic anemia, myelofibrosis, renal dysfunction, and organomegaly" "" + "isolated splenogonadal fusion" "" + "obsolete actinomycosis" "" "true" + "infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome" "" + "syndromic sensorineural deafness due to combined oxidative phosphorylation defect" "" + "obsolete clear cell sarcoma of kidney" "" "true" + "squamous cell carcinoma of the oral tongue" "" + "X-linked intellectual disability-hypotonia-movement disorder syndrome" "" + "megalencephaly-severe kyphoscoliosis-overgrowth syndrome" "" + "intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome" "" + "composite hemangioendothelioma" "An intermediate, locally aggressive and rarely metastasizing blood vessel neoplasm. It is characterized by the presence of spindle, plump, and epithelioid endothelial cells and cellular atypia." "" + "retiform hemangioendothelioma" "An intermediate, locally aggressive and rarely metastasizing blood vessel neoplasm. It is characterized by the presence of hobnail endothelial cells and formation of arborizing vascular channels." "" + "primary intralymphatic angioendothelioma" "An intermediate, rarely metastasizing blood vessel neoplasm. It is characterized by the presence of lymphatic-like vascular channels and papillary endothelial proliferation." "" + "partially involuting congenital hemangioma" "A clinical subtype of congenital hemangioma that begins as a rapidly involuting congenital hemangioma (RICH) but fails to completely involute and persists as a non-involuting congenital hemangioma (NICH)-like lesion" "" + "mixed cystic lymphatic malformation" "" + "obsolete rare combined vascular malformation" "True" "true" + "obsolete primary lymphedema with associated anomalies" "" "true" + "obsolete rare vascular malformation of major vessels" "True" "true" + "X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome" "" + "corpus callosum agenesis-macrocephaly-hypertelorism syndrome" "" + "obsolete immunodeficiency due to a complement cascade component deficiency" "" "true" + "immunodeficiency due to a complement regulatory deficiency" "True" + "obsolete rare genetic capillary malformation" "True" "true" + "obsolete rare genetic venous malformation" "An instance of rare venous malformation that is caused by a modification of the individual's genome." "True" "true" + "" "true" + "intellectual disability syndrome due to a DYRK1A point mutation" "" + "verrucous hemangioma" "A skin hemangioma characterized by the presence of epidermal hyperplasia." "" + "multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome" "Human MALT1 wild-type allele is located in the vicinity of 18q21 and is approximately 79 kb in length. This allele, which encodes mucosa associated lymphoid tissue lymphoma translocation gene 1 protein, plays a role in the modulation of the nuclear factor kappa B complex signaling cascade. The gene is involved in a chromosomal translocation t(11;18)(q21;q21) with the BIRC2 gene in mucosa-associated lymphoid tissue lymphomas." "" + "catastrophic antiphospholipid syndrome" "" + "benign metanephric tumour" "A benign neoplasm that involves the metanephros." "" + "neonatal alloimmune neutropenia" "" + "drug-induced methemoglobinemia" "Methemoglobinemia that is caused by exposure to certain drugs (xylocaine and benzene)." "" + "acquired hemoglobinopathy" "An instance of hemoglobinopathy that is acquired during the lifetime of the individual." "" + "paracetamol poisoning" "" + "familial gastric type 1 neuroendocrine tumor" "" + "acquired epidermolysis bullosa" "Epidermolysis bullosa acquisita (EBA) is a subepidermal bullous dermatosis of autoimmune origin that was named as a result of its resemblance to hereditary forms of epidermolysis bullosa (HEB), most notably dystrophic HEB." "" + "linear IgA Dermatosis" "Autoimmune disease characterized by subepidermal blisters and linear deposition of autoantibodies at the dermoepidermal junction. The accumulated autoantibodies are of immunoglobulin A and occasionally immunoglobulin G classes against epidermal basement membrane proteins. The dermatosis is sometimes associated with malignancies and use of certain drugs (e.g., vancomycin)." "" + "hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome" "Hereditary persistence of fetal hemoglobin (HPFH) associated with beta-thalassemia is characterized by high hemoglobin (Hb) F levels and an increased number of fetal-Hb-containing-cells." "" + "class I glucose-6-phosphate dehydrogenase deficiency" "True" + "exercise-induced malignant hyperthermia" "" + "obsolete rare disease with malignant hyperthermia" "True" "true" + "cyanide poisoning" "" + "scorpion envenomation" "Scorpion envenomation is a rare intoxication caused by a scorpion sting which typically manifests with localized pain, edema, erythema, and paresthesias at the site of the sting and, when severe, progresses to produce systemic symptoms of variable severity that include respiratory difficulties, abnormal systemic blood pressure, cardiac arrhythmia, and a combination of parasympathetic (i.e. excessive salivation and lacrimation, diaphoresis, miosis, frequent urination, diarrhea, vomiting, priapism) and sympathetic (e.g. hyperthermia, hyperglycemia, mydriasis) manifestations. Neurological manifestations may also be associated, such as abnormal eye movements, blurred vision, agitation and restlessness, as well as muscle fasciculations and spasms. Signs and symptoms are highly variable and in most severe cases may lead to cardiogenic shock and pulmonary edema." "" + "euthyroid Graves orbitopathy" "" + "supratip dysplasia" "Supratip dysplasia is a rare, congenital, non-syndromic, nose and cavum malformation characterized by the presence of a bulbous, soft tissue hypertrophy located in the middle-to-distal third of the nasal dorsum, in association with deformed, slightly laterally- and caudally-placed nasal alae and a scar-like atrophic skin lesion located at the nasal tip. Respiratory function is not affected." "" + "arterial duct anomaly" "" + "childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome" "" + "SMARCA4-deficient sarcoma of thorax" "" + "Tubulinopathy-associated dysgyria" "" + "cryptogenic multifocal ulcerous stenosing enteritis" "" + "chronic enteropathy associated with SLCO2A1 gene" "" + "severe primary trimethylaminuria" "Any trimethylaminuria in which the cause of the disease is a mutation in the FMO3 gene." "" + "isosporiasis" "An intestinal infection with Isospora belli." "" + "autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome" "" + "erythrokeratodermia-cardiomyopathy syndrome" "A rare, genetic erythrokeratoderma disorder characterized by generalized cutaneous erythema with fine white scales and pruritus refractory to treatment, progressive dilated cardiomyopathy, palmoplantar keratoderma, sparse or absent eyebrows and eyelashes, sparse scalp hair, nail dystrophy, and dental enamel anomalies. Variable features include failure to thrive, developmental delay, and development of corneal opacities. Histology shows psoriasiform acanthosis, hypogranulosis, and compact orthohyperkeratosis." "" + "obsolete inherited odontologic disease" "" "true" + "autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome" "" + "congenital generalized hypercontractile muscle stiffness syndrome" "" + "fibroblastic rheumatism" "" + "pediatric multiple sclerosis" "Pediatric multiple sclerosis (MS) is a rare multiple sclerosis variant characterized by the onset of multiple sclerosis (i.e. one or multiple episodes of clinical CNS symptoms consistent with acquired CNS demyelination, with radiologically proven dissemination of inflammatory lesions in space and time, following exclusion of other disorders) before the age of 18 years old. Pediatric MS patients present a predominantly relapsing-remitting course with first attack usually consisting of optic neuritis, transverse myelitis, acute disseminated encephalomyelitis and monofocal or polyfocal neurological deficits. A high burden of T2-hyperintense lesions on intial MRI, primarily of the supratentorial region and/or of the cervical spinal cord, has been reported." "" + "obsolete nodular fasciitis" "A self-limiting, rapidly growing, non-encapsulated benign neoplasm that arises from the soft tissues. It is characterized by the presence of plump spindle-shaped fibroblasts, multinucleated osteoclast-like giant cells, chronic inflammatory infiltrate, red blood cell extravasation, and high mitotic activity." "" "true" + "pontine autosomal dominant microangiopathy with leukoencephalopathy" "" + "COL4A1 or COL4A2-related cerebral small vessel disease" "" + "COL4A1 or COL4A2-related cerebral small vessel disease with ischemic tendancy" "True" + "primary condylar hyperplasia" "" + "cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder" "" + "obsolete rare hypercholesterolemia" "Rare hypercholesterolemia." "True" "true" + "" "true" + "" "true" + "MYO5B-related progressive familial intrahepatic cholestasis" "" + "bile duct cyst" "Cystic dilatation of the hepatic duct or bile duct." "" + "primary intrahepatic lithiasis" "" + "idiopathic ductopenia" "" + "Caroli syndrome" "" + "idiopathic peliosis hepatis" "" + "lethal hydranencephaly-diaphragmatic hernia syndrome" "Lethal hydranencephaly-diaphragmatic hernia syndrome is a rare, genetic, lethal, multiple congenital anomalies syndrome characterized by hydranencephaly and diaphragmatic hernia, as well as macrocephaly, a widely open anterior fontanel, scaphoid abdomen and hypotonia. Additionally, congenital heart defects, polyhydramnios and pulmonary hypertension have also been associated." "" + "congenital portosystemic shunt" "Congenital portosystemic shunt is a rare, congenital anomaly of the great veins characterized by an abnormal communication between one or more veins of the portal and the caval systems, resulting in complete or partial diversion of the portal blood away from the liver to the systemic circulation. Clinical manifestations include liver atrophy, hypergalactosemia without uridine diphosphate enzyme deficiency, hyperammonemia, encephalopathy (resulting in learning disabilities, extreme fatigability and seizures), pulmonary hypertension, hypoxemia from hepatopulmonary syndrome and benign or malignant tumours." "" + "MSH3-related attenuated familial adenomatous polyposis" "" + "high grade B-cell lymphoma with MYC and/ or BCL2 and/or BCL6 rearrangement" "" + "aneurysmal bone cyst" "A locally aggressive and destructive benign cystic lesion of the bone. It is characterized by the formation of multiloculated hemorrhagic cystic spaces which are separated by fibrous septa. It can arise from any bone, but usually affects the metaphysis of long bones. It manifests with pain and swelling and may recur following curettage." "" + "isolated neonatal sclerosing cholangitis" "Isolated neonatal sclerosing cholangitis is a rare, genetic, biliary tract disease characterized by severe neonatal-onset cholangiopathy with patent bile ducts and absence of ichthyosiform skin lesions. Patients present with jaundice, acholic stools, hepatosplenomegaly and high serum gamma-glutamyltransferase activity. Liver histology shows portal fibrosis, ductular proliferation, hepatocellular metallothionein deposits, and intralobular bile-pigment accumulations. Some patients may also have renal disease." "" + "" "true" + "facial diplegia with paresthesias" "" + "obsolete fibular aplasia-tibial campomelia-oligosyndactyly syndrome" "" "true" + "recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome" "Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome is a rare, genetic, neurodegenerative disease characterized by episodic metabolic encephalomyopathic crises (of variable frequency and severity which are frequently precipitated by an acute illness) which manifest with profound muscle weakness, ataxia, seizures, cardiac arrhythmias, rhabdomyolysis with myoglobinuria, elevated plasma creatine kinase, hypoglycemia, lactic acidosis, increased acylcarnitines and a disorientated or comatose state. Global developmental delay, intellectual disability and cortical, pyramidal and cerebellar signs develop with subsequent progressive neurodegeneration causing loss of expressive language and varying degrees of cerebral atrophy." "" + "X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability" "" + "global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome" "Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome is a rare, genetic, neurological disorder characterized by mild to severe developmental delay and speech impairment, truncal hypotonia, abnormalities of vision (including cortical visual impairment and abnormal visual-evoked potentials), progressive brain atrophy mainly affecting the cerebellum, and shortened or atrophic corpus callosum. Other clinical findings may include increased muscle tone in the extremities, dystonic posturing, hyporeflexia, scoliosis, postnatal microcephaly and variable facial dysmorphism (e.g. deep-set eyes, gingival hyperplasia, short philtrum and retrognathia)." "" + "X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome" "" + "pyoderma gangrenosum" "Pyoderma gangrenosum (PG) is a primarily sterile inflammatory neutrophilic dermatosis characterized by recurrent cutaneous ulcerations with a mucopurulent or hemorrhagic exudate." "" + "PYCR2-related microcephaly-progressive leukoencephalopathy" "PYCR2-related microcephaly-progressive leukoencephalopathy is a rare, genetic, syndromic intellectual disability disorder characterized by progressive postnatal microcephaly, cerebral hypomyelination and severe psychomotor developmental delayed with absent speech, as well as axial hypotonia, appendicular hypertonia with hyperextensibility of the wrists and ankles, hyperreflexia, severe muscle wasting and failure to thrive. Associated craniofacial dysmorphism includes triangular facies with bitemporal narrowing, down- or upslanting palpebral fissures, malar hypoplasia, large malformed ears with overfolded helices, upturned bulbous nose, long smooth philtrum and thin vermilion borders." "" + "Lewis-Sumner syndrome" "A rare acquired demyelinating polyneuropathy characterized by asymmetrical distal weakness of the upper or lower extremities and motor dysfunction with adult onset. It is considered to be a variant of chronic inflammatory demyelinating polyneuropathy." "" + "pseudo-TORCH syndrome 2" "" + "familial schizencephaly" "An instance of schizencephaly that is caused by an inherited modification of the individual's genome." "" + "Kimura disease" "Kimura disease is a benign and chronic inflammatory disorder of unknown etiology, occurring mainly in Asian countries (very rarely in Western countries) and predominantly affecting young men, that usually presents with a solitary or multiple non-tender subcutaneous masses in the head and neck region (in particular the preauricular and submandibular area) and/or generalized painless lymphadenopathy, often with salivary gland involvement. Characteristic laboratory findings include blood eosinophilia and markedly elevated serum immunoglobulin E (IgE) levels. It is often associated with autoinflammatory disorders (i.e. ulcerative colitis, bronchial asthma) and a co-existing renal disease." "" + "HTRA1-related autosomal dominant cerebral small vessel disease" "" + "obsolete rare idiopathic macular telangiectasia" "True" "true" + "adenylosuccinate synthetase-like 1-related distal myopathy" "" + "nodular regenerative hyperplasia of the liver" "Nodular regenerative hyperplasia of the liver is a rare parenchymatous liver disease characterized by diffuse benign transformation of the hepatic parenchyma into multiple small nodules (composed of regenerating hepatocytes) and that is usually asymptomatic but can lead to the development of non-cirrhotic portal hypertension and its complications, including esophageal variceal bleeding, hypersplenism and ascites. It is often associated with rheumatologic, autoimmune, hematologic, and myeloproliferative disorders as well as various immune deficiency states and exposure certain drugs and toxins." "" + "obsolete subcorneal pustular dermatosis" "" "true" + "postinfectious vasculitis" "Vasculitis, characterized by inflammatory lesions in the wall of vessels, may be due to different viruses." "" + "acquired schizencephaly" "An instance of schizencephaly that is acquired during the lifetime of the individual." "" + "isolated congenital hepatic fibrosis" "A congenital disorder usually inherited in an autosomal recessive pattern. It affects the hepatobiliary system and the kidneys. It is characterized by liver fibrosis, portal hypertension, and renal cysts." "" + "primary effusion lymphoma" "Primary effusion lymphoma (PEL) is a large B-cell lymphoma located in the body cavities, characterized by pleural, peritoneal, and pericardial fluid lymphomatous effusions and that is always associated with human herpes virus-8 (HHV-8)." "" + "urachal cyst" "Urachal cyst is a congenital urachal anomaly characterized by a failure of complete closure of the urachus, in which both ends are closed but the central lumen remains patent. It is typically asymptomatic but may become clinically significant when infected, presenting as a mass in the umbilical region accompanied by abdominal pain and fever." "" + "focal myositis" "Focal myositis is a rare inflammatory myopathy characterized by a localized swelling of skeletal muscle that is usually located in the lower extremities." "" + "penile agenesis" "An extremely rare congenital abnormality characterized by the complete absence of the penis. It may be associated with other genitourinary abnormalities." "" + "omphalomesenteric cyst" "" + "proliferating trichilemmal cyst" "Proliferating trichilemmal tumor is a rare large, multinodular, usually benign, tumor that is generally located in the posterior part of the scalp in aged women (over 50 years). It first appears as a painless nodule that later grows into a solid or partially cystic tumor that is mobile over the underlying subcutaneous tissues. It can present ulceration, inflammation or even bleeding and can cause necrosis of the adjacent tissues." "" + "familial keratoacanthoma" "Multiple familial keratoacanthoma (KA) of Witten and Zak is a rare a rare inherited skin cancer syndrome and is characterized by the coexistence of features characteristic of both multiple KA, Ferguson Smith type and generalized eruptive keratoacanthoma, such as multiple small miliary-type lesions, larger self-healing lesions, and nodulo-ulcerative lesions. Lesions do not have a predilection for the mucosal surfaces. Transmission is autosomal dominant." "" + "transgrediens et progrediens palmoplantar keratoderma" "" + "acquired purpura fulminans" "A life-threatening, rapidly progressive thrombotic disorder affecting mainly neonates and children that is characterized by purpuric skin lesions and disseminated intravascular coagulation. PF may progress rapidly to multi-organ failure caused by thrombotic occlusion of small and medium-sized blood vessels. There are two forms of PF that are classified according to triggering mechanisms: acute infectious (the most common form), and idiopathic PF." "" + "keratosis pilaris" "A form of dry skin characterised by hair follicles plugged by scale." "" + "lichen amyloidosis" "Lichen amyloidosis is a rare chronic form of cutaneous amyloidosis, a skin disease characterized by the accumulation of amyloid deposits in the dermis, clinically characterized by the development of pruritic, often pigmented, hyperkeratotic papules on trunk and extremities, especially on the shins, and histologically by the deposition of amyloid or amyloid-like proteins in the papillary dermis." "" + "creeping myiasis" "" + "Graham Little-Piccardi-Lassueur syndrome" "Graham Little-Piccardi-Lassueur syndrome is a variant of lichen planopilaris characterized by the clinical triad of progressive cicatricial (scarring) alopecia of the scalp, follicular keratotic papules on glabrous skin, and variable alopecia of the axillae and groin." "" + "obsolete Leigh disease" "" "true" + "microlissencephaly-micromelia syndrome" "Microlissencephaly-micromelia syndrome is a syndrome of abnormal cortical development, characterized by severe prenatal polyhydramnios, postnatal microcephaly, lissencephaly, upper limb micromelia, dysmorphic facies (coarse face, hypertrichosis, and short nose with long philtrum), intractable seizures, and early death. Hypoparathyroidism was noted in one case." "" + "Zellweger-like syndrome without peroxisomal anomalies" "An extremely rare mitochondrial disorder characterized by facial dysmorphism similar to that seen in Zellweger syndrome, such as frontal bossing, high forehead, upslanting palpebral fissures, hypoplastic supraorbital ridges, and epicanthal folds, and in addition, pale skin, profound hypotonia, developmental delay, and minor metabolic anomalies. No peroxysomal defects, however, have been reported. Transmission is thought to be autosomal recessive." "" + "obsolete cat-scratch disease" "" "true" + "obsolete leptospirosis" "" "true" + "Kikuchi-Fujimoto disease" "Kikuchi-Fujimoto disease (KFD) is a benign and self-limited disorder, characterized by regional cervical lymphadenopathy with tenderness, usually accompanied with mild fever and night sweats. Less frequent symptoms include weight loss, nausea, vomiting, sore throat." "" + "obsolete maple syrup urine disease" "" "true" + "acute myelomonocytic leukemia M4" "An acute leukemia characterized by the proliferation of both neutrophil and monocyte precursors. (WHO, 2001)" "" + "anterior cutaneous nerve entrapment syndrome" "Anterior cutaneous nerve entrapment syndrome (ACNES) is a chronic neuropathic pain syndrome of the abdominal wall caused by entrapment of anterior cutaneous branches of 7 to 12th intercostal nerves along the lateral border of the anterior rectus abdominis fascia causing severe pain and tenderness of the involved dermatome." "" + "retinitis punctata albescens" "" + "lichen planopilaris" "Lichen planopilaris (LPP) is a rare cutaneous variant of lichen planus which affects hair follicles. It may occur on its own or in association with more common forms of lichen planus, usually classical type and/or oral lichen planus." "" + "obsolete rare teratologic disease" "True" "true" + "Roch-Leri mesosomatous lipomatosis" "Roch-Leri mesosomatous lipomatosis is a rare benign autosomal dominant disorder of fat tissue proliferation characterized by the presence of multiple small lipomas of 2 to 5 cm in diameter in the middle third of the body (i.e. the forearms, trunk, and upper thighs), and which are generally painless and can be easily removed by local anesthesia, provided that they are not too numerous or confluent. There have been no further descriptions in the literature since 1984." "" + "orbital leiomyoma" "Orbital leiomyoma is a rare benign smooth muscle tumor arising from the walls of orbital vessels characterized by its slow growth and well encapsulated nature. It is usually located in an extraconal position, commonly manifesting with painless proptosis. The tumor is composed of spindle cells arranged in a fibrous stroma rich in dilated sinusoidal capillaries. The nuclei of tumor cells are oval with blunted ends and there are no mitotic figures. Orbital leiomyoma when excised has excellent prognosis for vision and life. One case of orbital leiomyosarcoma that possibly represents sarcomatous change in an orbital leiomyoma following radiation treatment has been reported." "" + "obsolete listeriosis" "" "true" + "obsolete rare cutaneous lupus erythematosus" "Cutaneous lupus erythematosus (CLE) is an autoimmune disease that denotes a heterogeneous spectrum of clinical manifestations affecting the skin and can be divided into 4 categories: acute CLE (ACLE); subacute CLE (SCLE); chronic CLE (CCLE; the most diverse form); and intermittent CLE (ICLE). CLE can either occur alone or associated with systemic lupus erythematosus (SLE)." "True" "true" + "Lyell syndrome" "Lyell syndrome is an extended form of toxic epidermal necrolysis characterized by destruction and detachment of the skin epithelium and mucous membranes involving more than 30% of the body surface area." "" + "Wyburn-Mason syndrome" "Wyburn-Mason syndrome or Bonnet-Dechaume-Blanc syndrome is characterized by the association of arteriovenous malformations of the maxilla, retina, optic nerve, thalamus, hypothalamus and cerebral cortex." "" + "benign eyelid neoplasm" "A non-metastasizing neoplasm that arises from the upper or lower eyelid." "" + "Cobb syndrome" "Cobb syndrome is defined by the association of vascular cutaneous (venous or arteriovenous), muscular (arteriovenous), osseous (arteriovenous) and medullary (arteriovenous) lesions at the same metamere or spinal segment. This segmental distribution may involve one or many of the 31 metameres present in humans. Only 16% of the medullary lesions are multiple and have a clearly metameric distribution." "" + "Plummer-Vinson syndrome" "Plummer-Vinson or Paterson-Kelly syndrome presents as a classical triad of dysphagia, iron-deficiency anemia and esophageal webs." "" + "posterior cortical atrophy" "Posterior Cortical Atrophy (PCA) is a rare progressive neurodegenerative disorder with a typical onset between 50-65 years of age characterized by progressive impairment of higher visual processing skills and other posterior cortical functions without any evidence of ocular abnormalities." "" + "corticosteroid-sensitive aseptic abscess syndrome" "Corticosteroid-sensitive aseptic abscesses syndrome is a well-defined entity within the group of autoinflammatory disorders." "" + "sarcocystosis" "Infection of the striated muscle of mammals by parasites of the genus sarcocystis. Disease symptoms such as vomiting, diarrhea, muscle weakness, and paralysis are produced by sarcocystin, a toxin produced by the organism." "" + "obsolete legionellosis" "" "true" + "malakoplakia" "Malakoplakia is a chronic multisystem granulomatous inflammatory disease characterized by the presence of single or multiple soft plaques on various organs of the body." "" + "obsolete pneumococcal meningitis" "" "true" + "obsolete Marfan syndrome" "" "true" + "McCune-Albright syndrome" "McCune-Albright syndrome (MAS) is classically defined by the clinical triad of fibrous dysplasia of bone (FD), cafC)-au-lait skin spots, and precocious puberty (PP)." "" + "peripartum cardiomyopathy" "Peripartum cardiomyopathy (PPCM) is an idiopathic, potentially fatal form of dilated cardiomyopathy that develops during the final month of pregnancy or within five months after delivery." "" + "cold agglutinin disease" "Cold agglutinin disease is a type of autoimmune hemolytic anemia defined by the presence of cold autoantibodies (autoantibodies which are active at temperatures below 30B0C)." "" + "SUNCT syndrome" "SUNCT syndrome (Short-lasting Unilateral Neuralgiform headache attacks with Conjunctival injection and Tearing) is a primary headache disorder characterized by unilateral trigeminal pain that occurs in association with ipsilateral cranial autonomic symptoms (conjunctival injection and tearing)." "" + "obsolete rare hepatic disease" "Rare liver disease." "True" "true" + "medial condensing osteitis of the clavicle" "" + "monosomy 21" "Monosomy 21 is a chromosomal anomaly characterized by the loss of variable portions of a segment of the long arm of chromosome 21 that leads to an increased risk of birth defects, developmental delay and intellectual deficit." "" + "total autosomal monosomy" "True" + "mucolipidosis type III" "Mucolipidosis III alpha/beta (MLIII alpha/beta) is a lysosomal disorder characterized by progressive slowing of the growth rate from early childhood, stiffness and pain in joints, gradual coarsening of facial features, moderate developmental delay and mild intellectual disability in most patients." "" + "cirrhotic cardiomyopathy" "Cirrhotic cardiomyopathy is the term used to describe a constellation of features indicative of abnormal heart structure and function in patients with cirrhosis. These include systolic and diastolic dysfunction, electrophysiological changes, and macroscopic and microscopic structural changes." "" + "Mazabraud syndrome" "Mazabraud syndrome is a rare primary bone dysplasia characterized by the association of fibrous dysplasia with intramuscular myxomas. Fibrous dysplasia (usually polyostotic, sometimes monostotic) occurs during the growth period and can be asymptomatic or can present with pain, skeletal deformities or fractures while intramuscular myxoma, associated with polyostotic fibrous dysplasia is usually multifocal, typically occuring in the vicinity of skeletal lesions, and presents in adulthood as a painless soft-tissue mass (most commonly in the thigh). Although it is a benign condition, local recurrences of myxomas after incomplete excision and malignant transformation of a fibrous dysplastic lesion into osteogenic sarcoma have been reported." "" + "obsolete mucopolysaccharidosis type 1" "" "true" + "osteoblastoma" "A rare benign bone-forming neoplasm usually arising from the spine. It is a well-circumscribed lytic tumor that varies in size. The tumor is composed of woven bone trabeculae and shares similar histologic characteristics with the osteoid osteoma. Surgical curettage is the treatment of choice. The prognosis is excellent." "" + "neuromuscular junction disease" "Conditions characterized by impaired transmission of impulses at the neuromuscular junction. This may result from disorders that affect receptor function, pre- or postsynaptic membrane function, or acetylcholinesterase activity. The majority of diseases in this category are associated with autoimmune, toxic, or inherited conditions." "" + "obsolete myasthenic syndrome with eye involvement" "" "true" + "furuncular myiasis" "Furuncular myiasis in humans is caused by two species: the Cayor worm (larvae of the African tumbu fly Cordylobia anthropophaga) and the larvae of the human botfly (Dermatobia hominis)." "" + "macrophagic myofasciitis" "" + "McLeod neuroacanthocytosis syndrome" "A form of neuroacanthocytosis and is characterized clinically by a Huntington's disease-like phenotype with an involuntary hyperkinetic movement disorder, psychiatric manifestations and cognitive alterations, and biochemically by absence of the Kx antigen and by weak expression of the Kell antigens." "" + "rhombencephalosynapsis" "Rhombencephalosynapsis (RS) is a rare malformation of the cerebellum characterised by the association of agenesis (total or partial) of the vermis and fusion of the cerebellar hemispheres." "" + "distal myopathy with vocal cord weakness" "Distal myopathy with vocal cord and pharyngeal weakness is an adult-onset, autosomal dominant muscular disease which is characterized by muscle weakness in the feet and hands, combined with vocal or swallowing dysfunction." "" + "argyria" "Argyria is a rare dermatosis, which can be either localized or systemic, that occurs after prolonged contact and absorption of silver containing compounds over a period of years and that is characterized by irreversible blue-gray to gray-black staining of skin, fingernails and/or mucous membranes, most evident on sun exposed areas of the skin. Silver exposure is usually occupational but may also occur through dental amalgams, the ingestion of colloidal silver, acupuncture needles, orthopedic implants and topical medications (such as silver sulfadiazine)." "" + "recurrent respiratory papillomatosis" "Recurrent respiratory papillomatosis is a rare respiratory disease characterized by the development of exophytic papillomas, affecting the mucosa of the upper aero-digestive tract (with a strong predilection for the larynx), caused by an infection with human papilloma virus. Symptoms at presentation may include hoarseness, chronic cough, dyspnea, recurrent upper respiratory infections, pneumonia, dysphagia, stridor, and/or failure to thrive." "" + "pudendal neuralgia" "Pudendal neuralgia (PN) is a chronic neuropathic pain, aggravated by sitting and for which no organic cause can be found by imaging studies. It is often associated with pelvic dysfunction." "" + "potassium-aggravated myotonia" "Potassium-aggravated myotonia (PAM) is a muscular channelopathy presenting with a pure myotonia dramatically aggravated by potassium ingestion, with variable cold sensitivity and no episodic weakness. This group includes three forms: myotonia fluctuans, myotonia permanens, and acetazolamide-responsive myotonia." "" + "pigmented palpebral tumor" "" + "common mesentery" "" + "obsolete isolated growth hormone deficiency" "" "true" + "short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia" "" + "craniorachischisis" "Craniorachischisis is the most severe form of neural tube defect in which both the brain and spinal cord remain open to varying degrees. It is a very rare congenital malformation of the central nervous system." "" + "obsolete pemphigoid gestationis" "" "true" + "obsolete rare epithelial tumor of stomach" "True" "true" + "paraneoplastic pemphigus" "Pemphigus is a group of chronic autoimmune skin diseases characterised by blisters formation on the outer layer of the skin and the mucous membranes. Three clinical forms have been characterised, of which paraneoplastic pemphigus is extremely rare." "" + "schisis association" "The combination of two or more of the following anomalies: neural tube defects (e.g. anencephaly, encephalocele, spina bifida cystica), cleft lip/palate, omphalocele and congenital diaphragmatic hernia. These anomalies are associated at a higher frequency than would be expected with random combination rates." "" + "polyneuropathy associated with IgM monoclonal gammapathy with anti-MAG" "Polyneuropathy associated with IgM monoclonal gammapathy (MG) with anti-MAG (myelin-associated-glycoprotein) activity is a demyelinating polyneuropathy characterized clinically by sensory ataxia, tremor, paresthesia, and impaired gait." "" + "IgG4-related mediastinitis" "" + "multifocal motor neuropathy" "Multifocal motor neuropathy (MMN) is a rare acquired immune-mediatedneuropathy characterized clinically by a purely motor deficit with conduction block and asymmetric multifocal weakness, fasciculations, and cramping." "" + "acrofacial dysostosis, Kennedy-Teebi type" "Acrofacial dysostosis, Kennedy-Teebi type was reported as a new type of acrofacial dysostosis due to the presence of manifestations not usually seen in Nager syndrome (NS) such as microcephaly, blepharophimosis, microtia, a peculiar beakednose, cleft lip and palate, symmetrical involvement of the thumbs and great toes and developmental delay. It has since been suggested that these features can also be a part of the NS phenotype." "" + "benign idiopathic neonatal seizures" "A rare neonatal epilepsy syndrome characterized by seizures without specific underlying etiology, occurring during the first days of life in infants with an otherwise normal neurological state and no family history of neonatal convulsions. The most commonly partial and clonic seizures usually last for one to three minutes. Repeated seizures may lead to status epilepticus lasting up to 20 hours. Overall, remission rates are high and neurological outcome is favorable." "" + "tolosa-Hunt syndrome" "Tolosa-Hunt syndrome is an ophthalmoplegic syndrome, affecting all age groups, characterized by acute attacks (lasting a few days to a few weeks) of periorbital pain, ipsilateral ocular motor nerve palsies, ptosis, disordered eye movements and blurred vision usually caused by a non-specific inflammatory process in the cavernous sinus and superior orbital fissure. It has an unpredicatable course with spontaneous remission occurring in some and recurrence of attacks in others." "" + "Oroya fever" "An infection that is caused by Bartonella bacilliformis, which is transmitted to humans from infected sandflies. The acute phase (Oroya fever) is characterized by fever, headache, myalgia, enlargement of the lymph nodes, and anemia. The chronic phase (verruga peruana/Peruvian wart) is characterized by benign, eruptive lesions that are bleeding and pruritic, arthralgia, and malaise." "" + "obsolete trench fever" "" "true" + "obsolete leiomyosarcoma" "" "true" + "granulomatous mastitis" "A rare, benign, inflammatory breast disease occurring in premenopausal women shortly after a recent pregnancy. The origin is unknown but it is commonly mistaken for malignancy and sometimes associated with breast feeding and the use of oral contraceptives." "" + "iridocorneal endothelial syndrome" "Iridocorneal endothelial (ICE) syndrome describes a group of progressive corneal proliferative endotheliopathies comprised of Chandler syndrome, Cogan-Reese syndrome and essential iris atrophy, affecting mainly young adult females and characterized by iris holes and atrophy, papillary distortion, anterior synechiae, corneal edema and often with secondary glaucoma and corneal decompensation as complications" "" + "obsolete secondary glaucoma due to a proliferation and differentiation anomaly" "" "true" + "recurrent acute pancreatitis" "Recurrent acute pancreatitis (RAP) is characterized by repeated attacks of acute pancreatitis (AP), which is defined as an acute inflammatory process of the pancreas with variable involvement of other regional tissues or remote organ systems." "" + "obsolete pulmonary blastoma" "" "true" + "hepatoportal sclerosis" "Hepatoportal sclerosis (HPS) is a rare disorder characterized by sclerosis of the intrahepatic portal veins, non-cirrhotic portal hypertension, asymptomatic splenomegaly and recurrent variceal bleeding." "" + "IgG4-related thyroid disease" "Riedel thyroiditis is a fibroinflammatory disorder of the thyroid gland, occuring more frequently in females, characterized a large, hard thyroid mass, and presenting with pressure symptoms (breathing difficulB,ties and dysphagia) or voice hoarseness and aphonia (impingement of recurrent laryngeal nerve). It can often be associated with extracervical fibroinflammatory disorders such as retroperitoneal fibrosis, primary scleroisng cholangitis and autoimmune diseases such as Hashimoto struma, Addison disease, and Biermer disease." "" + "perineural cyst" "Perineural (or Tarlov) cysts are cerebrospinal fluid-filled nerve root cysts most commonly found at the sacral level of the spine, although they can be found in any section of the spine, which can cause progressively painful radiculopathy." "" + "obsolete biotin-responsive basal ganglia disease" "" "true" + "Lhermitte-Duclos disease" "Lhermitte-Duclos disease (LDD) is a very rare disorder characterized by abnormal development and enlargement of the cerebellum, and an increased intracranial pressure." "" + "steroid-resistant nephrotic syndrome" "Nephrotic syndrome, occurring in the pediatric population, in which proteinuria does not normalize with administration of steroids; this condition is unresponsive to a minimum of four weeks administration of oral corticosteroids." "" + "vaginal atresia" "" + "non-histaminic angioedema" "Angioedema is characterized by the occurrence of transitory and recurrent subcutaneous and/or submucosal edemas resulting in swelling and/or abdominal pain." "" + "obsolete mutilating palmoplantar keratoderma with periorificial keratotic plaques" "" "true" + "maternally-inherited progressive external ophthalmoplegia" "" + "short fifth metacarpals-insulin resistance syndrome" "Short fifth metacarpals-insulin resistance syndrome is characterised by bilateral shortening of the fifth fingers and fifth metacarpals. It has been described in several members of one family. Some members of the family also had spherocytosis and insulin resistance. Transmission is autosomal dominant." "" + "Tako-tsubo cardiomyopathy" "Takotsubo cardiomyopathy (TC) is a recently described acute cardiac syndrome that mimics acute myocardial infarction and is characterized by ischemic chest symptoms, an elevated ST segment on electrocardiogram, and elevated levels of cardiac disease markers." "" + "PANDAS" "PANDAS is an acronym for Pediatric Autoimmune Neuropsychiatric Disorders Associated with a group A beta-hemolytic Streptococcal infection and applied to a subgroup of children with obsessive-compulsive disorder (OCD) and/or tic disorders." "" + "obsolete pigmented villonodular synovitis" "" "true" + "sensorineural hearing loss-early graying-essential tremor syndrome" "Sensorineural hearing loss-early graying-essential tremor syndrome is characterised by the combination of sensorineural hearing loss, early greying of scalp hair and adult onset essential tremor." "" + "cutaneous mastocytosis" "Cutaneous mastocytosis is a term referring to a group of diseases characterized by abnormal accumulation and proliferation of skin mastocytes. In some cases (most commonly in adults), cutaneous mastocytosis may occur in association with mast cell infiltration of various extracutaneous organs, in which case the disorder is referred to as systemic mastocytosis." "" + "mast cell sarcoma" "A rare entity characterized by localized but destructive growth of a tumor consisting of highly atypical, immature mast cells.(WHO, 2001)" "" + "extracutaneous mastocytoma" "A localized tumor consisting of mature mast cells. (WHO, 2001) -- 2003" "" + "amoebiasis due to Entamoeba histolytica" "A parasitic disease caused by the protozoa, Entamoeba histolytica, mainly occurring in tropical regions after the ingestion of an amoebic cyst, and resulting in clinical manifestations that may range from an asymptomatic state to amoebic colitis (violent abdominal pain, a painful contracted feeling around the anal sphincter, blood and mucus in the stools but without the presence of fever), or amoebic liver abscesses (fever, chills, abdominal pain, weight loss, hepatomegaly) that can be fatal if not immediately treated. Extraintestinal involvement elsewhere (i.e. thoracic, hepatic) is extremely rare." "" + "segmental odontomaxillary dysplasia" "Segmental odontomaxillary dysplasia (SOD) is a rare disorder characterized by unilateral enlargement of the right or left maxillary alveolar bone and gingiva in the region from the back of the canines to the maxillary tuberosity. In the enlarged region, dental abnormalities such as missing teeth, abnormal spacing and delayed eruption occur." "" + "obsolete Acanthamoeba keratitis" "" "true" + "thrombocytopenia with congenital dyserythropoietic anemia" "Thrombocytopenia with congenital dyserythropoietic anemia (CDA) is a rare hematological disorder, seen almost exclusively in males, characterized by moderate to severe thrombocytopenia with hemorrhages with or without the presence of mild to severe anemia." "" + "X-linked intellectual disability with isolated growth hormone deficiency" "" + "accessory pancreas" "Accessory pancreas is an asymptomatic embryopathy characterized by the presence of pancreatic tissue in other sites of the body such as the splenic pedicle, gonadic pedicles, intestinal mesentery, duodenum wall, upper jejunum, or, more rarely, the gastric wall, ileum, gallbladder or spleen." "" + "pancreatoblastoma" "Pancreatoblastoma is a rare malignant epithelial pancreatic neoplasm, most often found in children, which usually presents with the non-specific symptoms of a palpable mass, vomiting abdominal pain, jaundice, and weight loss/failure to thrive, and is characterized histologically by multiple lines of differentiation (acinar, ductal, mesenchymal, neuroendocrine) and the presence of squamoid nests." "" + "amoebiasis due to free-living amoebae" "Free-living amebae belonging to the genera Acanthamoeba, Balamuthia, Naegleria and Sappinia are important causes of disease in humans and animals. Naegleria fowleri produces an acute, and usually lethal, central nervous system (CNS) disease called primary amebic meningoencephalitis (PAM). Acanthamoeba spp. and Balamuthia mandrillaris are opportunistic free-living amebae capable of causing granulomatous amebic encephalitis (GAE) in individuals with compromised immune systems. Sappinia pedata has been implicated in a case of amebic encephalitis. Naegleria fowleri and Acanthamoeba spp., are commonly found in lakes, swimming pools, tap water, and heating and air conditioning units." "" + "obsolete rare maxillo-facial surgical disease" "True" "true" + "obsolete rare genetic inherited tumor" "True" "true" + "obsolete rare genetic skin disease" "True" "true" + "obsolete rare sleep disorder" "A rare form of sleep disorder." "True" "true" + "obsolete rare deafness" "Any of the forms of hearing loss that have a rare incidence." "True" "true" + "obsolete rare vascular disease" "Any of the forms of vascular disease that have a rare incidence." "True" "true" + "obsolete rare dystonia" "Rare dystonia." "True" "true" + "obsolete lysosomal disease" "" "true" + "obsolete mitochondrial disease" "" "true" + "obsolete rare constitutional aplastic anemia" "" "true" + "obsolete rare parkinsonian disorder" "Rare parkinsonian disorder." "True" "true" + "obsolete rare parathyroid disease and phosphocalcic metabolism anomaly" "True" "true" + "obsolete rare infectious disease" "Rare infectious disease." "True" "true" + "obsolete rare circulatory system disease" "A rare form of cardiovascular disease." "True" "true" + "proteostasis deficiencies" "Disorders caused by imbalances in the protein homeostasis network - synthesis, folding, and transport of proteins; post-translational modifications; and degradation or clearance of misfolded proteins." "" + "idiopathic steroid-sensitive nephrotic syndrome" "Steroid-sensitive nephrotic syndrome (SSNS) is a kidney disease defined by selective proteinuria, hypoalbuminaemia and, on renal biopsy, minimal changes without immunoglobulin deposits." "" + "congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunization" "Congenital membranous nephropathy due to maternal anti-neutral endopeptidase (NEP) alloimmunization (CMNEPA) is a glomerular disease characterized by severe renal failure and nephrotic syndrome at birth, which rapidly improve in the first weeks of life." "" + "obsolete rhabdoid tumor" "" "true" + "obsolete liposarcoma" "" "true" + "hypotrichosis-lymphedema-telangiectasia-renal defect syndrome" "" + "bilateral acute depigmentation of the iris" "Bilateral acute depigmentation of the iris (BADI) is characterized by acute onset of bilateral iris depigmentation, pigment dispersion in the anterior chamber, and heavy pigment deposition in the anterior chamber angle. Patients typically present with acute and usually severe photophobia, blurred vision, red eye, and ocular discomfort or pain with a usually self-limiting clinical course. Cases often occur after a flu-like illness, upper respiratory tract infection, and after the use of oral moxifloxacin. When associated with iris epithelial depigmentation, iris transillumination defects and atonic/mydriatic pupil, the condition is referred to as bilateral acute iris transillumination (BAIT) which has an increased risk of severe intractable rise in intraocular pressure." "" + "Bosley-Salih-Alorainy syndrome" "Bosley-Salih-Alorainy syndrome (BSAS) is characterized by variable horizontal gaze dysfunction, profound and bilateral sensorineural deafness associated commonly with severe inner ear maldevelopment, cerebrovascular anomalies (ranging from unilateral internal carotid artery hypoplasia to bilateral agenesis), cardiac malformation, developmental delay and occasionally autism. The syndrome is caused by homozygous mutations in the HOXA1 gene (7p15.2) and is transmitted in an autosomal recessive manner. The syndrome overlaps clinically and genetically with Athabaskan brain dysfunction syndrome (ABDS,). However unlike ABDS, BSAS does not manifest central hypoventilation." "" + "circumscribed palmoplantar hypokeratosis" "Circumscribed palmoplantar hypokeratosis is an ectodermal dysplasia characterised by circular, well-circumscribed patches of erythematous depressed skin." "" + "warty dyskeratoma" "A rare, usually solitary, benign epithelial tumor of the skin that appears to arise from a hair follicle. It usually develops in the head and neck region as a nodular lesion with a central keratotic plug." "" + "obsolete alopecia universalis" "" "true" + "bullous pemphigoid" "Bullous pemphigoid (BP) is the most common form of autoimmune bullous dermatosis." "" + "Leigh syndrome with cardiomyopathy" "" + "radiation proctitis" "Radiation proctitis is a rare rectal disease directly induced by pelvic radiotherapy and characterized by rectal bleeding, change in bowel habits, tenesmus and sepsis." "" + "vernal keratoconjunctivitis" "Vernal keratoconjunctivitis (VKC) is a chronic, severe allergy that affectsthe surfaces of the eyes. It most commonly occurs in boys living in warm, dry climates. Attacks associated with VKC are common in the spring (hence the name 'vernal') and summer but often reoccur in the winter. Signs and symptoms usually begin before 10 years of age and may include hard, cobblestone-like bumps (papillae) on the upper eyelid; sensitivity to light; redness; sticky mucus discharge; andinvoluntary blinking or spasms of the eyelid (blepharospasm).The condition usually subsides at the onset of puberty. It is caused by ahypersensitivity (allergic reaction)to airborne-allergens. Management focuses on preventing 'flare ups' and relieving the symptoms of the condition." "" + "post-transplant lymphoproliferative disease" "Post-transplant lymphoproliferative disorder (PTLD) is a polyclonal (benign) or clonal (malignant) proliferation of lymphoid cells that develops as a consequence of immunosuppression in a recipient of a solid organ or bone marrow allograft. PTLDs comprise a spectrum ranging from early, Epstein-Barr virus (EBV)-driven polyclonal lymphoid proliferations to EBV-positive or EBV- negative lymphomas of predominantly B-cell or less often T-cell type. (WHO, 2001)" "" + "immunodeficiency-associated lymphoproliferative disease" "" + "obsolete adult acute respiratory distress syndrome" "" "true" + "obsolete meconium aspiration syndrome" "" "true" + "bronchopulmonary dysplasia" "Bronchopulmonary dysplasia is a chronic respiratory disease that results from complications related to lung injury during the treatment of infant acute respiratory distress syndrome in low-birth-weight premature infants or from abnormal lung development in older infants. Clinical signs are tachypnea, tachycardia and signs of respiratory distress such as intercostal recession, grunting and nasal flaring." "" + "infantile apnea" "Infantile apnea is a cessation of respiratory air flow that may affect newborns or older children because of neurological impairment of the respiratory rhythm or obstruction of air flow through the air passages. The symptoms include cyanosis, pallor or bradycardia and snoring in case of obstructive apnea." "" + "immunodeficiency due to selective anti-polysaccharide antibody deficiency" "Immunodeficiency due to selective anti-polysaccharide antibody deficiency is characterized by normal immunoglobulin levels (including IgG sub-classes) but impaired polysaccharide responsiveness (IPR)." "" + "congenital Epstein-Barr virus infection" "Congenital Epstein-Barr virus (EBV) infection causes no clinical manifestations in the majority of infants. Indeed, the occurrence of congenital infection with EBV has never been demonstrated conclusively and must be very rare. One case have been reported to present after birth, multiple congenital anomalies (micrognathia, cryptorchidism, central cataracts), dystrophy, generalized hypotonia, hepatosplenomegaly, diffuse petechiae and hematomas and multiple areas of metaphysitis of the long bones at birth. A low birth weight was also reported. No specific follow-up of the fetus is recommended following maternal EBV primary-infection." "" + "obsolete rare pulmonary hypertension" "Rare pulmonary hypertension." "True" "true" + "obsolete hemorrhagic disorder due to a constitutional platelet anomaly" "A hemorrhagic disorder due to a platelet anomaly which occurs from birth." "True" "true" + "obsolete rare soft tissue tumor" "Any of the forms of soft tissue neoplasm that have a rare incidence." "True" "true" + "neuromyelitis optica" "Neuromyelitis optica (NMO) and NMO spectrum disorders are inflammatory demyelinating diseases of the central nervous system characterized mainly by attacks of uni- or bilateral optic neuritis (ON) and acute myelitis." "" + "autoimmune/inflammatory optic neuropathy" "" + "retinal capillary malformation" "Retinal cavernous hemangioma is a rare, benign, usually unilateral retinal vascular hamartoma that in most cases is asymptomatic but in some patients may present with blurred vision or floaters and that is characterized by the presence of grape-like vacuoles." "" + "dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome" "Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome is characterised by the association of dentinogenesis imperfecta, delayed tooth eruption, facial dysmorphology, small stature, sensorineural hearing loss and mild intellectual deficit. It has been described in two brothers born to consanguineous parents. Transmission is autosomal recessive." "" + "benign exophthalmos syndrome" "Benign exophthalmos syndrome is characterised by slowly progressive unilateral exophthalmos and ipsilateral mucosal turbinate hypertrophy, without intraorbital or intranasal lesions." "" + "Sandifer syndrome" "Sandifer syndrome is a paroxysmal dystonic movement disorder occurring in association with gastro-oesophageal reflux, and, in some cases, hiatal hernia." "" + "renal nutcracker syndrome" "A rare, syndromic renal disease characterized by the entrapment of left renal vein (LRV) between the superior mesenteric artery (SMA) and the abdominal aorta, resulting in increased luminal pressure, renal hilar varices, hematuria and, at the microscopic level, rupture of thin-walled veins into the collecting system in renal fornices." "" + "obsolete disseminated peritoneal leiomyomatosis" "" "true" + "Rh deficiency syndrome" "The Rh deficiency syndrome, also known as Rh-null syndrome, is a blood disorder where people have red blood cells (RBCs) lacking all Rh antigens. The Rh antigens maintain the integrity of the RBC membrane and therefore, RBCs which lack Rh antigens have an abnormal shape. There are two types of Rh deficiency syndrome: The regulator type is associated with many different changes (mutations) in the RHAG gene. The amorph type is caused by inactive copies of a gene (silent alleles) at the RH locus. As a result, the RBCs do not express any of the Rh antigens. The absence of the Rh complex alters the RBC shape, increases its tendency to break down (osmotic fragility), and shortens its lifespan, resulting in a hemolytic anemia that is usually mild. These patients are at risk of having adverse transfusion reactions because they may produce antibodies against several of the Rh antigens and can only receive blood from people who have the same condition. Rh deficiency syndrome is inherited in an autosomal recessive manner. Management is individualized according to the severity of hemolytic anemia." "" + "silent sinus syndrome" "Silent sinus syndrome is characterised by adult-onset progressive enophthalmos due to collapse of some or all of the maxillary sinus walls." "" + "CANOMAD syndrome" "CANOMAD syndrome (Chronic Ataxic Neuropathy, Ophthalmoplegia, Monoclonal IgM protein, cold Agglutinins and Disialosyl antibodies) is a rare chronic immune-mediated demyelinating polyneuropathy." "" + "obsolete rare central nervous system or retinal vascular disease" "True" "true" + "cancer-associated retinopathy" "Cancer associated retinopathy (CAR) is a paraneoplastic disease of the eye associated with the presence of extraocular malignancy and circulating autoantibodies against retinal proteins." "" + "benign paroxysmal torticollis of infancy" "Benign paroxysmal torticollis of infancy (BPTI) is a rare functional disorder characterised by recurrent episodes of torticollic posturing of the head (inclination or tilting of the head to one side) in healthy children." "" + "psychogenic movement disorders" "Psychogenic movement disorders (PMD) are movement disorders that cannot be attributed to any known structural or neurochemical diseases, but represent the manifestation of an underlying psychiatric illness or malingering. Most cases of PMD fall in the psychiatric diagnostic category of conversion disorders of the motor subtype." "" + "obesity due to melanocortin 4 receptor deficiency" "Melanocortin 4 receptor (MC4R) deficiency is the commonest form of monogenic obesity identified so far. MC4R deficiency is characterised by severe obesity, an increase in lean body mass and bone mineral density, increased linear growth in early childhood, hyperphagia beginning in the first year of life and severe hyperinsulinaemia, in the presence of preserved reproductive function." "" + "obsolete catecholamine-producing tumor" "Catecholamine-producing tumors may arise in the adrenal medulla (pheochromocytomas) or in extraadrenal chromaffin cells (secreting paragangliomas)." "" "true" + "pili bifurcati" "Pili bifurcati is an uncommon transitory hair shaft dysplasia characterized by segmental duplication of the hair shaft: a ramification generates two parallel branches which fuse to form a single shaft again. Each branch is covered by its own cuticle." "" + "pneumocystosis" "Human pneumocystosis is caused by an infectious agent, which (after recent nomenclature and taxonomy revisions) is now classed as the fungus Pneumocystis jiroveci. The prevalence is unknown. Pneumocystis jiroveci is an opportunistic infectious agent, developing in immunosuppressed patients. It is an air-borne infection, localised to the lungs. However, extrapulmonary involvement is seen in AIDS patients. The disease manifests progressively with coughing, respiratory problems (dyspnea) and fever, followed by acute respiratory insufficiency and death within a few weeks in untreated cases. The most reliable diagnostic method is bronchoalveolar lavage. The treatment of choice is cotrimoxazole." "" + "idiopathic acute eosinophilic pneumonia" "Idiopathic acute eosinophilic pneumonia (IAEP) is an eosinophilic pneumonia of undetermined etiology that is characterized by acute febrile hypoxic respiratory failure associated with diffuse radiographic infiltrates and pulmonary eosinophilia, but without concurring allergy or infection." "" + "continuous spikes and waves during sleep" "Continuous spikes and waves during sleep (CSWS) is a rare epileptic encephalopathy of childhood characterized by seizures, an electroencephalographic (EEG) pattern of electrical status epilepticus in sleep (ESES) and neurocognitive regression in at least 2 domains of development." "" + "microscopic polyangiitis" "Microscopic polyangiitis (MPA) is an inflammatory, necrotizing, systemic vasculitis that affects predominantly small vessels (i.e. small arteries, arterioles, capillaries, venules) in multiple organs." "" + "relapsing polychondritis" "Relapsing polychondritis (RP) is a rare, clinically heterogeneous, multisystemic inflammatory disease characterized by inflammation of the cartilage and proteoglycan rich structures leading to cartilage damage with joint, ocular and cardiovascular involvement." "" + "global developmental delay-osteopenia-ectodermal defect syndrome" "This syndrome is characterised by the association of global developmental delay, osteopenia and skin anomalies." "" + "tubular renal disease-cardiomyopathy syndrome" "A syndrome characterised by hypokalaemic metabolic alkalosis secondary to a tubulopathy, hypomagnesaemia with hypermagnesuria, severe hypercalciuria and dilated cardiomyopathy." "" + "ossification anomalies-psychomotor developmental delay syndrome" "Ossification anomalies-psychomotor developmental delay syndrome is characterised by hypomineralisation of the cranial bones, thoracic dystrophy, hypotonia, and abnormal and slender long bones due to an alteration in remodelling during ossification." "" + "spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome" "" + "visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome" "Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome is characterised by facial dysmorphology, neuropathic visceral dysmotility, neurogenic megacystis, intracerebral calcifications and developmental delay. It has been described in two siblings (brother and sister) born to consanguineous parents. The girl also had microcephaly and multicystic kidneys. The boy had a more extensive neuropathic visceral disorder, leading clinically to chronic intestinal pseudo-obstruction syndrome (CIPO)." "" + "central neurocytoma" "Central neurocytoma is a very rare brain tumor of young adults (over 100 cases reported worldwide). It is typically found in the lateral ventricles and occasionally in the third ventricle. Symptoms are those of increased intracranial pressure: headache, nausea and vomiting, drowsiness, vision problems and mental changes. Total removal of the tumor is the therapy of choice. Post-operative prognosis is generally good." "" + "obsolete paracoccidioidomycosis" "" "true" + "non-24-hour sleep-wake syndrome" "Non-24-hour sleep-wake disorder (non-24 disorder), also known as hypernychthemeral syndrome, is a circadian rhythm sleep disorder characterized by non-synchronization to a 24-hour day leading to insomnia and daytime sleepiness with sometimes severe associated manifestations." "" + "acquired hemophilia" "Acquired hemophilia A (AHA) is a rare,often severe, hematological autoimmune disorder characterized by spontaneous hemorrhages into the skin, muscles, soft tissues,or mucous membranes." "" + "acquired coagulation factor deficiency" "Deficiency of a coagulation factor that is not caused by genetic alterations. Causes include vitamin K deficiency, amyloidosis, and severe liver disease." "" + "acute ackee fruit intoxication" "Acute ackee fruit intoxication (also referred to as Jamaican vomiting syndrome or sickness) is caused by the ingestion of unripe Blighia sapida fruits. It is a serious intoxication that is frequent in certain countries in the Caribbean and Western Africa. In contrast, it is rare in France and other Western countries. Intoxication leads to toxic hypoglycaemia and inhibition of neoglucogenesis. The hypoglycaemia is caused by the effect of hypoglycin A, which is found in the arils." "" + "angiostrongyliasis" "A foodborne zoonotic disease, endemic to Southeast Asia and the Pacific Islands, caused by the rat lungworm Angiostrongylus cantonensis and that is acquired by the ingestion of the infective larvae on vegetables or in raw or undercooked snails, slugs, land crabs, freshwater shrimps, frogs and lizards. The main feature is eosinophilic meningitis, with clinical manifestations including fever, headache, malaise, fatigue, vomiting, rhinorrhea, blurred vision, diplopia, cough, stiff neck, enteritis, constipation and paraesthesia due to the movement of the worms from the intestines to the lungs, central nervous system and eyes. In severe cases without treatment, coma and death can occur." "" + "cholesteryl ester storage disease" "Cholesteryl ester storage disease (CESD) is a very rare, late-onset, genetic endocrine disease characterized by deficient or inactive lysosomal acid lipase (LAL) causing lipid build-up, which leads to atherosclerosis, hepatomegaly, splenomegaly, progressive liver disease, and malabsorption." "" + "oligocone trichromacy" "Oligocone trichromacy is a rare non-progressive form of cone photoreceptor dysfunction characterised by reduced visual acuity, normal retinal appearance, absent or reduced cone responses on electroretinography but normal colour vision." "" + "brain malformation-congenital heart disease-postaxial polydactyly syndrome" "Goossens-Devriendt syndrome is characterised by intrauterine growth retardation, a congenital heart defect, postaxial polydactyly, a brain malformation, abnormal hair with temporal balding, and marked facial dysmorphism. It has been reported in two siblings from unrelated parents. One of the siblings died and the surviving patient showed postnatal growth retardation and severe developmental delay." "" + "angioosteohypotrophic syndrome" "Angioosteohypotrophic syndrome is a rare, congenital, vascular anomaly syndrome characterized by venous or, on occasion, arterial malformations which lead to soft tissue hypertrophy and bone hypoplasia. Affected limb is generally shortened, highly deformed, painful and edematous and associates bone and muscle hypotrophy. Single parts, or multiple small parts, of limbs are typically affected but more extensive involvement, including complete extremity, shoulder girdle and axilla, has been reported." "" + "tropical endomyocardial fibrosis" "Tropical endomyocardial fibrosis is a restrictive cardiopathy, occuring almost exclusively in children and young adults in tropical and subtropical regions, characterized by endocardial fibrosis, affecting the apices and the inflow tract of the right or left ventricle (or both) and manifesting with a restrictive cardimyopathy and atrioventricular regurgitation leading to severe pulmonary hypertension, very high systemic venous pressure and congestive cardiac failure. Suspected etiologies include helminth and protozoal infestation and malnutrition." "" + "Loeffler endocarditis" "Loeffler's endocarditis is a rare restrictive cardiomyopathy characterized by hypereosinophilia and fibrous thickening of the endocardium, with usually large thrombi against the ventricle walls, that can lead to cardiovascular complications such as heart failure and thromboembolism. It manifests with symptoms like edema, fatigue and shortness of breath. It is usually secondary to eosinophil-associated tissue damage and is associated with idiopathic hypereosinophilic syndrome, chronic eosinophilic leukemia, carcinoma, or lymphoma." "" + "primary progressive freezing gait" "Primary progressive freezing gait is a rare, heterogeneous, progressively incapacitating neurodegenerative disease characterized by freezing of gait (usually during the first 3 years), later associating postural instability, eventually resulting in a wheelchair-bound state. Other features may include mild bradykinesia, rigidity, postural tremor, hyperreflexia, speech disorder and dementia. The disease is unresponsive to dopaminergic treatments." "" + "obsolete pseudoxanthoma elasticum" "" "true" + "6q terminal deletion syndrome" "6q terminal deletion syndrome is marked by a characteristic facial dysmorphism, short neck and psychomotor retardation, generally associated with a range of non-specific malformations." "" + "obsolete strongyloidiasis" "" "true" + "immunoglobulin a vasculitis" "SchC6nlein-Henoch purpura (SHP) is a systemic IgA vasculitis that affects small vessels. It is characterized by skin purpura, arthritis, and abdominal and/or renal involvement." "" + "pyomyositis" "Pyomyositis (PM) is a rare primary bacterial infection of the skeletal muscle, usually resulting from hematogenous spread or due to muscle injury, and characterized by pain and tenderness in the affected muscle, fever and abscess formation." "" + "rabies" "Rabies is a viral zoonosis leading to a fatal encephalopathy if not treated." "" + "obsolete infantile Refsum disease" "Infantile Refsum disease (IRD) is the mildest variant of the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD- ZSS), characterized by hypotonia, retinitis pigmentosa, developmental delay, sensorineural hearing loss and liver dysfunction. Phenotypic overlap is seen between IRD and neonatal adrenoleukodystrophy (NALD)." "" "true" + "odontoleukodystrophy" "Leukodystrophy with oligodontia is characterised by progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive." "" + "auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome" "The association of auricular abnormalities and cleft lip with or without cleft palate has been described in two siblings. One sibling had postauricular pits, profound myopia, nystagmus and retinal pigment abnormalities. The second sibling was a fetus (gestational age: 23 weeks) with severe cleft lip, cleft palate and external ear abnormalities." "" + "monosomy 9q22.3" "Interstitial 9q22.3 microdeletion is associated with a phenotype including macrocephaly, overgrowth and trigonocephaly. Psychomotor delay, hyperactivity and distinctive facial features were also observed. It has been described in two unrelated children." "" + "X-linked intellectual disability" "An X-linked intellectual deficiency in which not enough information is known, reported or published to indicate whether a gene causes non-syndromic or syndromic presentations." "" + "obsolete ankylostomiasis" "" "true" + "obsolete rhabdomyosarcoma" "" "true" + "Q fever" "A bacterial infection caused by Coxiella burnetii. It is transmitted to humans by the inhalation of infected air particles or contact with fluids and feces of infected animals. Signs and symptoms include the abrupt onset of fever, headache, myalgias, and weakness." "" + "juvenile polyposis of infancy" "Juvenile polyposis of infancy (JPI) is the most severe form of juvenile gastrointestinal polyposis and is characterized by pancolonic hamartomatous polyposis from stomach to rectum, diagnosed in the first two years of life." "" + "AKT2-related familial partial lipodystrophy" "" + "acquired generalized lipodystrophy" "Acquired generalized lipodystrophy belongs to a group of lipodystrophic syndromes characterized by loss of adipose tissue, and is a syndrome of insulin resistance that leads to increased cardiovascular risk. Acquired generalized lipodystrophy is related to a selective loss of subcutaneous adipose tissue occurring exclusively at the extremities (face, legs, arms, palms and sometimes soles)." "" + "localized lipodystrophy" "Localised lipodystrophies are characterised by loss of subcutaneous tissue from small regions of the body." "" + "hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome" "Hereditary inclusion body myopathy type 3 is characterised by congenital joint contractures (normalizing during early childhood), external ophthalmoplegia, and proximal muscle weakness. In adult cases, the muscular weakness is progressive." "" + "Foix-Alajouanine syndrome" "Foix-Alajouanine syndrome, also called subacute ascending necrotising myelitis, results from chronic congestion of the extrinsic pial veins of the spinal cord and of the intrinsic subpial network. It is characterised by progressive ascending deficit over a period of several months or years." "" + "folinic acid-responsive seizures" "Folinic acid-responsive seizures is a very rare neonatal epileptic encephalopathy disorder characterized clinically by myoclonic and clonic, or clonic seizures associated with apnea occurring several hours to 5 days after birth and responding to folinic acid." "" + "sympathetic ophthalmia" "Sympathetic ophthalmia (SO) is a bilateral granulomatous anterior uveitis usually occurring within the three months following trauma or a surgical procedure involving one eye." "" + "interstitial granulomatous dermatitis with arthritis" "Interstitial granulomatous dermatitis with arthritis is a rare rheumatologic disease characterized by the occurrence of inflammatory arthritis in association with large, erythematous, symmetrical cutaneous lesions (ranging from typical, but infrequent, cord-like lesions on the flanks to more common violaceous plaques on the trunk and limbs) featuring a typical histologic infiltrate mainly constituted of histiocytes." "" + "myxofibrosarcoma" "A malignant fibroblastic neoplasm arising from the soft tissue. It is characterized by the presence of spindle-shaped cells, cellular pleomorphism, thin-walled blood vessels, fibrous septa, and myxoid stroma." "" + "acute interstitial pneumonia" "Acute interstitial pneumonia (AIP), also referred to as Hamman-Rich syndrome, is a rapidly progressive and histologically distinct form of idiopathic interstitial pneumonia." "" + "respiratory bronchiolitis-interstitial lung disease syndrome" "Respiratory bronchiolitis - interstitial lung disease is a mild inflammatory pulmonary disorder developed by cigarette smokers and characterized by shortness of breath and cough, pulmonary function abnormalities of mixed restrictive and obstructive lung disease and high resolution CT scanning showing centrilobular micronodules, ground glass opacities and peribronchiolar thickening." "" + "trichodysplasia-amelogenesis imperfecta syndrome" "The association of amelogenesis imperfecta and a microscopically typical hair dysplasia has been found in several members of a family in two generations. Transmission is X-linked." "" + "sparse hair-short stature-skin anomalies syndrome" "Sparse hair-short stature-skin anomalies syndrome combines short stature, sparse hair, skin hyperpigmentation and urticaria-like reactions on the hands and arms. An upper central incisor, hypoplastic thumbs and/or palmoplantar hyperkeratosis may also be present. It is thought to be a rare form of ectodermal dysplasia and has been described at least once in a mother and her three sons. Transmission is autosomal dominant, or X-linked." "" + "DEND syndrome" "DEND syndrome is a very rare, generally severe form of neonatal diabetes mellitus (NDM) characterized by a triad of developmental delay, epilepsy, and neonatal diabetes." "" + "permanent neonatal diabetes mellitus" "Permanent neonatal diabetes mellitus (PNDM) is a monogenic form of neonatal diabetes (NDM) characterized by persistent hyperglycemia within the first 12 months of life in general, requiring continuous insulin treatment." "" + "Bickerstaff brainstem encephalitis" "Bickerstaff's brainstem encephalitis (BBE) is a rare post-infectious neurological disease characterized by the association of external ophthalmoplegia, ataxia, lower limb arreflexia, extensor plantar response and disturbance of consciousness (drowsiness, stupor or coma)." "" + "autoimmune encephalitis" "Inflammation of the brain secondary to an immune response triggered by the body itself." "" + "Japanese encephalitis" "A disease due to a virus transmitted by an arthropod)." "" + "cutaneous neuroendocrine carcinoma" "Cutaneous neuroendocrine carcinoma is a primary cutaneous cancer arising from a subset of skin neuroendocrine cells (Merkel cells, giving the name Merkel cell carcinoma (MCC))." "" + "obsolete inborn disorder of urea cycle metabolism and ammonia detoxification" "" "true" + "inborn disorder of biogenic amine metabolism and transport" "" + "obsolete creatine deficiency syndrome" "" "true" + "carbohydrate transport disease" "A disease that has its basis in the disruption of carbohydrate transport." "" + "glycerol metabolism disease" "A disease that has its basis in the disruption of glycerol metabolic process." "" + "purine metabolism disease" "A disease that has its basis in the disruption of purine nucleobase metabolic process." "" + "pyrimidine metabolism disease" "A disease that has its basis in the disruption of pyrimidine nucleobase metabolic process." "" + "obsolete glycogen storage disease" "" "true" + "obsolete combined hyperlipidemia (including acquired and inherited)" "" "true" + "obsolete other metabolic disease with skin involvement" "True" "true" + "mild phenylketonuria" "Mild phenylketonuria is a rare form of phenylketouria (PKU), an inborn error of amino acid metabolism, characterized by symptoms of PKU of mild to moderate severity." "" + "classic phenylketonuria" "Classical phenylketonuria is a severe form of phenylketonuria (PKU) an inborn error of amino acid metabolism characterized in untreated patients by severe intellectual deficit and neuropsychiatric complications." "" + "alpha-N-acetylgalactosaminidase deficiency type 3" "Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 3 is a rare clinically heterogeneous type of NAGA deficiency with developmental, neurologic and psychiatric manifestations presenting at an intermediate age." "" + "SAPHO syndrome" "SAPHO syndrome (acronym for Synovitis, Acne, Pustulosis, Hyperostosis and Osteitis) is an auto-inflammatory disease, mainly characterized by the association of neutrophilic cutaneous involvement and chronic osteomyelitis." "" + "vitamin B12-unresponsive methylmalonic acidemia type mut-" "Vitamin B12-unresponsive methylmalonic acidemia type mut- is an inborn error of metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12." "" + "obsolete porokeratosis" "" "true" + "obsolete other epidermal disorder" "True" "true" + "obsolete other genetic epidermal disease" "True" "true" + "epidermal appendage anomaly" "" + "obsolete alopecia" "" "true" + "nail anomaly" "A epidermal appendage anomaly that involves the nail." "" + "genetic nail anomaly" "An instance of nail anomaly that is caused by a modification of the individual's genome." "" + "obsolete rare genetic dermis disorder" "True" "true" + "obsolete rare urticaria" "Rare urticaria." "True" "true" + "obsolete mucopolysaccharidosis with skin involvement" "" "true" + "obsolete rare photodermatosis" "True" "true" + "generalized junctional epidermolysis bullosa non-Herlitz type" "Generalized non-Herlitz-type junctional epidermolysis bullosa is a form of non-Herlitz-type junctional epidermolysis bullosa (JEB-nH) characterized by generalized skin blistering, atrophic scarring, nail dystrophy or nail absence, and enamel hypoplasia, with extracutaneous involvement." "" + "junctional epidermolysis bullosa inversa" "Junctional epidermolysis bullosa inversa is a rare severe subtype of junctional epidermolysis bullosa (JEB) characterized by blistering and erosions confined to intertriginous skin sites, the esophagus, and vagina." "" + "late-onset junctional epidermolysis bullosa" "Late-onset junctional epidermolysis bullosa is a subtype of junctional epidermolysis bullosa (JEB) occurring in childhood or young adulthood." "" + "recessive dystrophic epidermolysis bullosa inversa" "Recessive dystrophic epidermolysis bullosa inversa (RDEB-I) is rare subtype of dystrophic epidermolysis bullosa (DEB) characterized by blisters and erosions which are primarily confined to intertriginous skin sites, the base of the neck, the uppermost back, and the lumbosacral area." "" + "woolly hair nevus" "Woolly hair nevus (WHN) is a rare non-familial hair anomaly characterized by kinky, tightly coiled, and hypopigmented fine hair with an average diameter of 0.5 cm, noted, since birth or during the first two years of life, in a localized circumscribed distribution on the scalp. Occassionally, WHN grows in areas observed to be alopecic in the neonatal period. WHN can be associated with features like ocular defects (persistent pupillary membrane, retinal defects), precocious puberty, and epidermal nevi." "" + "cutaneous mastocytoma" "Cutaneous mastocytoma is a form of cutaneous mastocytosis (CM) generally characterized by the presence of a solitary or multiple hyperpigmented macules, plaques or nodules associated with abnormal accumulation of mast cells in the skin." "" + "follicular atrophoderma-basal cell carcinoma" "" + "inflammatory linear verrucous epidermal nevus" "" + "verrucous nevus" "A benign wart-like, pigmented skin lesion appearing on various parts of the body at birth or early in childhood, usually in linear groupings." "" + "acanthokeratolytic verrucous nevus" "" + "atypical Werner syndrome" "A heterogeneous group of cases that are clinically diagnosed as Werner syndrome (WS) but do not carry WRN gene mutations. Similar to classical WS caused by WRN mutations, patients generally exhibit an aged appearance and common age-related disorders at earlier ages compared to the general population." "" + "pemphigus vegetans" "" + "pemphigus erythematosus" "Pemphigus erythematosus is a rare superficial pemphigus disease characterized clinically by well-demarcated, localized, erythematous, scaly, hyperkeratotic, crusted plaques, with frequent butterfly distribution over the malar area of the face (but also commonly involving trunk and scalp, and less frequently the extremities, with a photoexposed distribution). Histologically, granular deposits along the dermal-epidermal junction, in addition to intercellular deposition in the upper epidermis, are observed." "" + "pemphigus foliaceus" "Pemphigus foliaceous is a rare superficial pemphigus disease characterized by multiple, pruritic, scaly, crusted cutaneous erosions, with flaky circumscribed patches, localized mostly on the face, scalp, trunk and extremities, often presenting an erythematous base. Mucosal involvement is rarely observed." "" + "phakomatosis cesioflammea" "" + "phakomatosis cesiomarmorata" "" + "phakomatosis spilorosea" "" + "macrocystic lymphatic malformation" "A lymphangioma characterized by the presence of thin-walled cavernous lymphatic spaces." "" + "microcystic lymphatic malformation" "" + "pili gemini" "Pili gemini defines a situation where the papilla's tip of a hair follicle splits during the anagen phase and consequently grows two hair shafts emerging through a single pilary canal. A papilla tip that divides in several tips will produce several hair shafts, a situation named pili multigemini. Pili gemini or multigemini can occur in each type of hair." "" + "obsolete rare form of salmonellosis" "" "true" + "autosomal recessive hyperinsulinism due to SUR1 deficiency" "" + "autosomal recessive hyperinsulinism due to Kir6.2 deficiency" "" + "mild hyperphenylalaninemia" "Mild hyperphenylalaninemia (HPA) is a rare form of phenylketonuria, an inborn error of amino acid metabolism, characterized by mild symptoms of HPA." "" + "Gardner syndrome" "Gardner syndrome is a severe form of familial adenomatous polyposis characterized by multiple adenomas in the colon and rectum associated with prominent extracolonic features including osteomas and multiple skin and soft tissue tumors." "" + "47,XYY syndrome" "47, XYY syndrome is a sex chromosome aneuploidy where males receive an additional Y chromosome, and is characterized clinically by tall stature evident from childhood, macrocephaly, facial features (mild hypertelorism, low set ears, a mildly flat malar region), speech delay and an increased risk for social and emotional difficulties, attention deficit hyperactive disorder and autistic spectrum disorder." "" + "obsolete mixed connective tissue disease" "" "true" + "antisynthetase syndrome" "Antisynthetase (AS) syndrome is a clinically heterogeneous form of idiopathic inflammatory myopathy characterized by myositis, arthralgia, Raynaud phenomenon, mechanic hands, interstitial lung disease (ILD), and serum autoantibodies to aminoacyl transfer RNA synthetases (anti-ARS)." "" + "shigellosis" "Shigellosis is a bacterial infection leading to dysentery and is caused by Shigella, which are small, ubiquitous Gram-negative bacteria belonging to the enterobacteria family. There are four species: S. dysenteriae, S. flexneri, S. boydii and S. sonnei, all of which cause bacillary dysentery and are strictly limited to human hosts." "" + "sialidosis type 1" "Sialidosis type 1 (ST-1) is a very rare lysosomal storage disease, and is the normosomatic form of sialidosis, characterized by gait abnormalities, progressive visual loss, bilateral macular cherry red spots and myoclonic epilepsy and ataxia, that usually presents in the second to third decade of life." "" + "obsolete Ehlers-Danlos syndrome with periventricular heterotopia" "Ehlers-Danlos syndrome (EDS) with periventricular heterotopia is a newly described variant of EDS. Affected patients exhibit features consistent with EDS, including joint hypermobility, skin fragility and aortic dilatation. They also have periventricular heterotopia (PH), which is characterized by focal epilepsy usually beginning in the second decade of life. Intelligence is generally normal. Some patients also have cardiac anomalies such as patent ductus arteriosus, bicuspid aortic valves, or aneurismal dilatation of the sinus of Valsalva." "" "true" + "obsolete sporotrichosis" "" "true" + "adult-onset Still disease" "A rare inflammatory multisystem disorder characterized clinically by fever of unknown origin, arthralgia or arthritis, hyperleucocytosis, and typical skin rash." "" + "congenital narrowing of cervical spinal canal" "Congenital cervical spinal stenosis is a rare neurological disease characterized by a congenital narrowing of the bony anatomy of the cervical spinal canal (saggital diameter <14mm), predisposing the individual to symptomatic neural compression, such as cramps, paresthesias, pain, muscle hypertonia and weakness, myelopathy and sphincter disturbances." "" + "Rocky mountain spotted fever" "Rocky Mountain spotted fever refers to an infection caused by the bacterium Rickettsia rickettsia. This particular bacterium is carried by certain species of ticks and spread to humans through the bites of infected ticks. Signs and symptoms of the condition generally develop approximately 2 to 14 days following the tick bite and may include fever, rash, headache, muscle pain, chills, and/or confusion. Some affected people may also experience diarrhea, nausea, vomiting, light sensitivity, hallucinations, and/or excessive thirst. Most cases occur in the spring and summer and are found in children. Risk factors for developing the conditioninclude recent hiking or exposure to ticks in an area where the disease is known to occur. Rocky Mountain spotted fever is typically treated with antibiotics (such as doxycycline or tetracycline)." "" + "rickettsialpox" "" + "obsolete boutonneuse fever" "" "true" + "obsolete murine typhus" "" "true" + "pseudotyphus of California" "Pseudotyphus of California is a rare, flea-borne Rickettsial disease caused by a Rickettsia felis infection. Patients can be asymptomatic or can present with unspecific symptoms (such as fever, headache, generalized maculopapular rash, myalgia, arthralgia and, ocasionally, eschar. lymphadenopathy, nausea, vomiting, loss of appetite and abdominal pain. Rarely, serious manifestations may occur and include neurological dysfunction (photophobia, hearing loss, and signs of meningitis) and pulmonary compromise." "" + "scrub typhus" "Scrub typhus is a rare dust mite-borne infectious disease caused by the Orientia tsutsugamushi bacterium and characterized clinically by an eruptive fever which is potentially serious." "" + "bacterial hemorrhagic fever" "A hemorrhagic fever caused by bacteria. Bacterial hemorrhagic disease is rare. One example of a bacterial hemorrhagic disease is scrub typhus." "" + "regional odontodysplasia" "Regional odontodysplasia (ROD) is a localized developmental anomaly of the dental tissues." "" + "florid cemento-osseous dysplasia" "Florid cemento-osseous dysplasia (FCOD) is a rare fibro-osseous lesion in the jaw that predominantly affects middle-aged women of African descent. It is generally asymptomatic or may manifest with pain and gingival swelling. Radiologically, it is characterized by multiple dense lobulated bone lesions, often symmetrically located in various regions of the jaw." "" + "vulvovaginal gingival syndrome" "" + "solitary bone cyst" "A solitary bone cyst is a benign non-epithelial bone cavity that is asymptomatic and that is found most commonly in the second decade of life by chance. The long bones are most often affected, but cases involving the jaw bone have been reported." "" + "desmoplastic small round cell tumor" "Desmoplastic small round cell tumor (DSRCT) is an aggressive soft tissue cancer that typically arises in serous lined surfaces of the abdominal or pelvic peritoneum, and spreads to the omentum, lymph nodes and hematogenously disseminates especially to the liver. Extraserous primary location has been reported in exceptional cases." "" + "CAMOS syndrome" "CAMOS syndrome is characterised by the association of a non-progressive congenital ataxia, severe intellectual deficit, optic atrophy and structural anomalies of the skin vessels. It has been described in five children from a large consanguineous Lebanese family. Short stature and microcephaly were also reported. Transmission is autosomal recessive." "" + "Mycoplasma encephalitis" "Mycoplasma encephalitis is a rare infectious encephalitis characterized by an acute onset of neurological signs and symptoms (e.g. altered consciousness, seizures, headaches, meningeal signs, behavioral changes) due to bacterial infection by Mycoplasma pneumoniae. Patients typically present unspecific signs and symptoms, such as fever, nausea, vomiting, fatigue, prior to onset of neurological manifestations and frequently have a history of a respiratory tract infection (e.g. pneumonia, bronchiolitis, pharyngitis)." "" + "la Crosse encephalitis" "La Crosse encephalitis (CE) is an acute arboviral infection caused by the La Crosse bunyavirus transmitted by an infected mosquito, usually observed in infants, children or adolescents (6 months to 16 years), and characterized by the onset of flulike symptoms such as fever, chills, nausea, vomiting, headache, and abdominal pain, followed by the onset of encephalitis characterized by somnolence, obtundation, and even seizures, focal neurologic signs (asymmetrical reflexes or Babinski signs), paralysis or even coma. CE can leave sequelae such as residual epilepsy and neurocognitive deficits." "" + "obsolete st. Louis encephalitis" "" "true" + "western equine encephalitis" "An acute arboviral infection caused by an alphavirus of the Togaviridae family transmitted by an infected mosquito, that more frequently affects children and that is characterized by the presence of mild flulike symptoms (fever, chills, headache, nausea, vomiting, and anorexia) but that can progress to weakness, altered mental status, photophobia, mental confusion, seizures, somnolence, coma and/or even death. The disease can leave neurological sequelae, mainly in infants and children, such as seizures, spasticity or behavioral disorders." "" + "obsolete eastern equine encephalitis" "" "true" + "obsolete Colorado tick fever" "" "true" + "encephalitis lethargica" "A form of encephalitis, the etiology of which is uncertain, that is characterized by lethargy and headache." "" + "steroid-responsive encephalopathy associated with autoimmune thyroiditis" "" + "progressive rubella panencephalitis" "A neurological disorder arising from primary rubella infection of the brain, characterized by chronic encephalitis. It is believed to be due to a persistence or reactivation of rubella virus infection. It usually manifesting between 8–19 years of age." "" + "rubella encephalitis" "" + "macrostomia-preauricular tags-external ophthalmoplegia syndrome" "Macrostomia-preauricular tags-external ophthalmoplegia syndrome combines macrostomia or abnormal mouth contour, preauricular tags, uni- or bilateral ptosis and external ophthalmoplegia. It was described in nine members of a Brazilian family. It is a new phenotype belonging to the so-called oculoauriculovertebral spectrum, resulting from a branchial arch anomaly. Transmission is autosomal dominant." "" + "pelvis syndrome" "PELVIS is an acronym defining the association of Perineal hemangioma, External genitalia malformations, Lipomyelomeningocele, Vesicorenal abnormalities, Imperforate anus, and Skin tag. Eleven cases have been reported." "" + "obsolete X-linked recessive intellectual disability-macrocephaly-ciliary dysfunction syndrome" "" "true" + "Susac syndrome" "Susac syndrome (SS) is a rare disorder characterized by the triad of central nervous system (CNS) dysfunction, branch retinal artery occlusions (BRAOs) and sensorineural hearing loss (SNHL). It is presumably due to autoimmune-mediated occlusions of microvessels in the CNS, the retina, and the inner ear." "" + "syringocystadenoma papilliferum" "A benign adnexal neoplasm occurring during childhood or adolescence. It usually presents as a papular lesion or a plaque on the head and neck. It may arise in an organoid nevus such as sebaceous. It is characterized by an endophytic invagination of the epithelium into the dermis. There are dermal cystic spaces present, containing villous projections. Complete excision is curative." "" + "idiopathic malabsorption due to bile acid synthesis defects" "Idiopathic malabsorption due to increased acid bile synthesis is an intestinal disease of unknown etiology characterized by an overproduction of bile acids which leads to chronic watery diarrhea." "" + "Hinman syndrome" "Hinman syndrome (HS) or non-neurogenic neurogenic bladder is a voiding dysfunction of the bladder of neuropsychological origin that is characterized by functional bladder outlet obstruction in the absence of neurologic deficits." "" + "collagen type III glomerulopathy" "Collagen type III glomerulopathy is a rare glomerular disease characterized by abnormal accumulation of type III collagen within the mesangium and subendothelial space of the glomerulus. Clinically it usually manifests with proteinuria (often in the nephrotic range), microscopic hematuria, peripheral edema and/or hypertension. In some cases progression to end-stage renal failure is observed." "" + "unknown leukodystrophy" "" + "desmin-related myopathy with Mallory body-like inclusions" "" + "Isaac syndrome" "Isaac's syndrome is an immune-mediated peripheral motor neuron disorder characterized by continuous muscle fiber activity at rest resulting in muscle stiffness, cramps, myokymia, and pseudomyotonia." "" + "obsolete testicular seminomatous germ cell tumor" "" "true" + "sporadic idiopathic steroid-resistant nephrotic syndrome" "Steroid-resistant, sporadic idiopathic nephrotic syndrome, is a heterogeneous entity. Nephrotic syndrome is characterised by marked proteinuria, with reduced plasmatic levels of albumin, and potentially with oedema." "" + "facial onset sensory and motor neuronopathy" "Facial onset sensory and motor neuronopathy is characterised initially by paraesthesia and numbness in the region of the trigeminal nerve distribution, which later progresses to involve the scalp, neck, upper trunk and upper limbs. Onset of motor manifestations occurs later with cramps, fasciculations, dysphagia, dysarthria, muscle weakness and atrophy. This syndrome has been described in four males and appears to be a slowly progressive neurodegenerative disease." "" + "craniofacial conodysplasia" "Craniofacial conodysplasia is characterised by craniofacial dysplasia, cone-shaped physes of the hands and feet, and neurological manifestations resembling cerebral palsy. It has been described in one family. The syndrome appeared to be transmitted as a dominant trait." "" + "microcephalic osteodysplastic dysplasia, Saul-Wilson type" "A bone development disease characterized by early developmental delay primarily involving speech, distinct facial features, short stature, brachydactyly, clubfoot deformities, cataracts, and microcephaly that has material basis in heterozygous mutation in COG4 on chromosome 16q22.1." "" + "Astley-Kendall dysplasia" "Astley-Kendall dysplasia is a lethal skeletal dysplasia characterized by short limbed dwarfism, osteogenesis imperfecta, and punctate calcification within cartilage. It has been described in less than ten cases." "" + "idiopathic juvenile osteoporosis" "Idiopathic juvenile osteoporosis (IJO) is a primary condition of bone demineralization that presents with pain in the back and extremities, walking difficulties, multiple fractures, and radiological evidence of osteoporosis." "" + "obsolete nodulosis-arthropathy-osteolysis syndrome" "" "true" + "genochondromatosis type 1" "Genochondromatosis is characterized by chondromatosis, typically involving the clavicles, upper end of the humerus, and lower end of the femur. Lesions are bilateral and symmetrical. It has been described four patients from the same family and is transmitted as an autosomal dominant trait. Another disorder, genochondromatosis II, shows strong similarities to genochondromatosis but is characterized by the involvement of the short tubular bones and by normal clavicles. It has been described in one unrelated family. Genochondromatosis II may also be inherited as an autosomal dominant trait. Genochondromatosis has a benign clinical course." "" + "dysspondyloenchondromatosis" "Dysspondyloenchondromatosis is a rare skeletal dysplasia characterized by anisospondyly and multiple enchondromas in vertebrae and the metaphyseal and diaphyseal parts of long tubular bones, leading to kyphoscoliosis and lower limb asymmetry." "" + "ischio-vertebral syndrome" "Ischio-vertebral syndrome is a very rare, poorly-defined bone disease characterized by ischial aplasia or hypoplasia, vertebral anomalies (vertebral malsegmentation, kyphoscoliosis), and in some patients, non-distinctive facial dysmorphism." "" + "BRESEK syndrome" "X-linked mental retardation, Reish type is characterised by Brain anomalies, severe mental Retardation, Ectodermal dysplasia, Skeletal deformities (vertebral anomalies, scoliosis, polydactyly), Ear/eye anomalies (maldevelopment, small optic nerves, low set and large ears with hearing loss) and Kidney dysplasia/hypoplasia (giving the acronym BRESEK syndrome)." "" + "IFAP syndrome with or without BRESHECK syndrome" "An X-linked multiple congenital anomaly disorder with variable severity. The classic triad, which defines IFAP, is ichthyosis follicularis, atrichia, and photophobia. Some patients have additional features, including mental retardation, brain anomalies, Hirschsprung disease, corneal opacifications, kidney dysplasia, cryptorchidism, cleft palate, and skeletal malformations, particularly of the vertebrae, which constitutes BRESHECK syndrome." "" + "fetal and neonatal alloimmune thrombocytopenia" "Fetal and neonatal alloimmune thrombocytopenia (NAIT) is a blood disorder that affects pregnant women and their babies. NAIT was first reported in the literature in 1953 and is estimated to occur in as many as 1 in 1200 live births. NAIT results in the destruction of platelets in the fetus or infant due to a mismatch between the mother's platelets and those of the baby. Certain molecules (antigens) on the surface of the baby's platelets are recognized as foreign by the mother's immune system. The mother's immune system then creates antibodies that attack and destroy the baby's platelets. Though NAIT can occur whenever the mother's blood mixes with that of the baby, it is usually triggered when the mother is exposed to the baby's blood during delivery. Many cases of NAIT are mild. Signs and symptoms may include a low platelet count (thrombocytopenia) and signs of bleeding into the skin such as petechiae and purpura. In the most severe cases, NAIT can cause bleeding episodes that may result in death or long-term disability. Bleeding episodes can occur either during pregnancy or after birth. Management of the infant with neonatal alloimmune thrombocytopenia may include platelet transfusions, ultrasounds, and intravenous immunoglobulin (IVIG). Treatment for pregnant mothers at risk for NAIT may include IVIG and steroids." "" + "X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome" "X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome is characterized by moderate intellectual deficit, bilateral single palmar creases, seizures, variable hypogammaglobulinemia and characteristic features (synophrys, prognathism, and hirsutism). It has been reported in three males from two generations of one family. All underwent progressive neurological deterioration. This syndrome is transmitted as an X-linked trait, and the causative gene is located between Xq21.33 and Xq23." "" + "X-linked intellectual disability-precocious puberty-obesity syndrome" "X-linked intellectual disability-precocious puberty-obesity syndrome is characterised by moderate intellectual deficit and precocious puberty. It has been described in three males from two generations of one Australian family. Morbid obesity was noted in the mothers of the patients. Transmission is X-linked." "" + "X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome" "X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome is characterised by intellectual deficit, epilepsy, facial dysmorphism and progressive joint contractures. It has been described in two boys. Hypotonia and feeding problems at birth were also reported. The mode of transmission is X-linked." "" + "X-linked intellectual disability-macrocephaly-macroorchidism syndrome" "X-linked intellectual disability-macrocephaly-macroorchidism syndrome is characterised by intellectual deficit affecting both sexes, macrocephaly, and macroorchidism in the majority of affected males. It has been described in 12 individuals from two generations of one family. Other males from this family did not display intellectual deficit but did present macroorchidism and macrocephaly. Transmission is X-linked and the causative gene has been localised to the q12-q21 region of the X chromosome." "" + "X-linked intellectual disability, Pai type" "X-linked intellectual disability, Pai type is characterised by the association of dysmorphism with intellectual deficit. It has been described in four generations of one family. Premature death was reported in the affected males. Transmission is X-linked recessive and the causative gene has been localised to the q28 region of the X chromosome." "" + "X-linked intellectual disability, Seemanova type" "X-linked intellectual disability, Seemanova type is characterised by microcephaly, intellectual deficit, growth retardation and hypogenitalism. It has been described in four boys from one family. A characteristic facies and ophthalmologic anomalies were also present and included microphthalmia, microcornea and cataract. Transmission is X-linked." "" + "X-linked intellectual disability, Stevenson type" "An X-linked syndromic intellectual disability characterised by intellectual deficit, hypotonia, absent deep tendon reflexes, tapered fingers and excessive fingerprint arches, genu valgum, a characteristic face and small teeth. It has been described in four males from two generations of one family. The causative gene appears to be located in the q13 region of the X chromosome." "" + "X-linked intellectual disability, Stoll type" "X-linked intellectual disability, Stoll type is characterised by intellectual deficit, short stature and characteristic facies (hypertelorism, prominent forehead, frontal bossing, a broad nasal tip and anteverted nares). It has been described in four males from three generations of the same family. Two females from this family also displayed intellectual deficit and the characteristic facies. Transmission is X-linked." "" + "X-linked intellectual disability-acromegaly-hyperactivity syndrome" "X-linked intellectual disability-acromegaly-hyperactivity syndrome is characterised by severe intellectual deficit, acromegaly and hyperactivity. The syndrome has been described in two half-brothers. Dysarthria, aggressive behaviour, a characteristic facies (an acromegalic and triangular face with a long nose) and macroorchidism were also present. The mother displayed moderate intellectual deficit and milder facial anomalies. Central nervous system anomalies were identified in the two boys: subarachnoid cysts and hyperdensity in the pontine region." "" + "obsolete X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome" "" "true" + "X-linked intellectual disability-corpus callosum agenesis-spastic quadriparesis syndrome" "X-linked intellectual disability-corpus callosum agenesis-spastic quadriparesis syndrome is characterised by intellectual and motor deficit, spastic quadriparesis and agenesis of the corpus callosum, without craniofacial abnormalities or seizures. It has been described in four male members of a family. The mode of inheritance is most likely X-linked recessive." "" + "X-linked neurodegenerative syndrome, Bertini type" "X-linked neurodegenerative syndrome, Bertini type is characterised by generalised hypotonia, psychomotor deficit, congenital ataxia and recurrent bronchopulmonary infections. It has been described in seven males from three generations of a family. Five of them died during the first years of life and the remaining patients developed myoclonic encephalopathy and macular degeneration. The locus has been mapped to Xp22.33-pter." "" + "fried syndrome" "Fried syndrome is a rare X-linked mental retardation (XLMR) syndrome characterized by psychomotor delay, intellectual deficit, hydrocephalus, and mild facial anomalies." "" + "X-linked neurodegenerative syndrome, Hamel type" "X-linked neurodegenerative syndrome, Hamel type is an X-linked neurodegenerative disorder characterised by intellectual deficit, blindness, convulsions, spasticity, mild hypomyelination and early death. It has been described in about ten male members from two generations of one family. The genetic defect responsible for the disorder is located in the pericentromeric region of the X chromosome, Xp11.3-q12." "" + "X-linked intellectual disability-ataxia-apraxia syndrome" "X-linked intellectual disability-ataxia-apraxia syndrome is characterised by ataxia, apraxia, intellectual deficit and/or seizures. It has been described in nine males in two unrelated Danish families. It is transmitted as an X-linked recessive syndrome with partial clinical expression in obligate female carriers." "" + "primitive portal vein thrombosis" "Portal vein thrombosis (PVT) is associated with acute (recent) or chronic (long-standing) thrombosis of the portal system." "" + "systemic-onset juvenile idiopathic arthritis" "Systemic-onset juvenile idiopathic arthritis is marked by the severity of the extra-articular manifestations (fever, cutaneous eruptions) and by an equal sex ratio." "" + "rheumatoid factor-positive polyarticular juvenile idiopathic arthritis" "A category of juvenile idiopathic arthritis defined by the presence of arthritis affecting five or more separate joints during the first six months of disease, with positive serologic testing for rheumatoid factor." "" + "psoriasis-related juvenile idiopathic arthritis" "Childhood arthritis typically associated with psoriasis." "" + "enthesitis-related juvenile idiopathic arthritis" "Enthesitis-related juvenile idiopathic arthritis is a subtype of juvenile idiopathic arthritis that is characterized by both arthritis and inflammation of an enthesitis site (the point at which a ligament, tendon, or joint capsule attaches to the bone). Signs and symptoms generally develop in late childhood or early adolescence and include pain, tenderness, and swelling in joints and at the enthesis. The knee and the back of the ankle (at the Achilles tendon) are the most commonly affected parts of the body. The underlying cause of enthesitis-related juvenile idiopathic arthritis is currently unknown (idiopathic). It is very rare for more than one member of a family to have juvenile arthritis; however, research suggests that having a family member with juvenile arthritis or any autoimmune disease may increase the risk of having juvenile arthritis, in general. Treatment usually involves different types of medications to help manage symptoms and/or physical therapy." "" + "enthesitis" "Inflammation at the site of insertion of ligaments, tendons, and other fibrous structures into bone." "" + "AA amyloidosis" "Secondary amyloidosis is a form of amyloidosis, that complicates chronic inflammatory disorders (mainly rheumatoid arthritis) and is characterized by the aggregation and deposition of amyloid fibrils composed of serum amyloid A protein, an acute phase reactant. Although spleen, suprarenal gland, liver and gut are frequent sites of amyloid deposition, the clinical picture is dominated by renal involvement." "" + "wild type ABeta2M amyloidosis" "" + "ATTRV122I amyloidosis" "Transthyretin (TTR)-related familial amyloidotic cardiomyopathy is a hereditary TTR-related systemic amyloidosis (ATTR) with predominant cardiac involvement resulting from myocardial infiltration of abnormal amyloid protein." "" + "obsolete congenital toxoplasmosis" "" "true" + "Trichinellosis" "A zoonotic parasitic disease caused by the consumption of raw or undercooked meat (pork and wild game) infected by nematodes of the genus Trichinella and that is characterized by an enteral (intestinal) phase, that can be asymptomatic or that can manifests with diarrhea, nausea, vomiting and abdominal pain, and a parenteral (muscular) phase, manifesting with fever, periorbital edema, muscle swelling and pain, weakness, and in some cases, skin rash and peripheral edema. Rarely, potentially fatal cardiac (i.e. myocarditis), pulmonary (i.e. pneumonitis, respiratory failure), and nervous system (i.e. meningoencephalitis) complications may occur." "" + "trichofolliculoma" "Trichofolliculoma is a rare benign follicular hamartoma that develops primarily on the face of adults, with a particular predilection for the back of the nose, but also on the neck or scalp. It presents as a solitary hemispheric flesh-colored nodule with a central pore or black dot that may contain a tuft of hair." "" + "hamartoma of skin appendage" "A hamartoma (disease) that involves the cutaneous appendage." "" + "localized lichen myxedematosus" "Localized lichen myxedematosus is a group of skin diseases characterized by the development of papules, nodules and/or plaques with mucin deposits and a variable degree of fibrosis in the absence of thyroid disease. The group comprises five sub-forms: nodular lichen myxedematosus, discrete papular lichen myxedematosus, papular mucinosis of infancy, acral persistent papular mucinosis and self-healing papular mucinosis." "" + "atypical lichen myxedematosus" "Atypical lichen myxedematosus is an intermediate form of lichen myxedematosus (LM) (a form of mucin dermal deposit) which does not meet the criteria for either scleromyxedema or the localized form. Three clinical subtypes have been described and include scleromyxedema without monoclonal gammopathy; localized forms with monoclonal gammopathy and/or systemic symptoms; localized forms with mixed features of the 5 subtypes of localized LM (discrete form, acral persistent papular mucinosis, self-healing papular mucinosis, papular mucinosis of infancy, and a pure nodular form). The course of atypical LM is unpredictable because only a few cases have been reported." "" + "lissencephaly type 3-familial fetal akinesia sequence syndrome" "Lissencephaly type 3-familial fetal akinesia sequence syndrome is characterised by the association of microencephaly, agenesis of the corpus callosum, brainstem hypoplasia, cystic cerebellum and foetal akinesia sequence. Less than 10 cases have been described so far. The syndrome is transmitted as an autosomal recessive trait and may be an allelic variant of Neu-Laxova syndrome and lissencephaly type III with metacarpal bone dysplasia." "" + "chronic neutrophilic leukemia" "A rare chronic myeloproliferative neoplasm characterized by neutrophilic leukocytosis. There is no detectable Philadelphia chromosome or BCR/ABL fusion gene." "" + "acute panmyelosis with myelofibrosis" "An acute myeloid leukemia characterized by bone marrow fibrosis without preexisting primary myelofibrosis." "" + "acute myeloid leukemia with multilineage dysplasia" "An acute myeloid leukemia arising de novo and not as a result of treatment. It is characterized by the presence of myelodysplastic features in at least 50% of the cells of at least two hematopoietic cell lines. Patients often present with severe cytopenia." "" + "acute basophilic leukemia" "A rare acute myeloid leukemia in which the immature cells differentiate towards basophils." "" + "obsolete myeloid sarcoma" "" "true" + "B-cell prolymphocytic leukemia" "A neoplasm of prolymphocytes affecting the blood, bone marrow, and spleen. It is characterized by prolymphocytes exceeding 55% of the lymphoid cells in the blood and profound splenomegaly." "" + "splenic marginal zone lymphoma" "Splenic marginal zone lymphoma is a rare, indolent B-cell non-Hodgkin lymphoma characterized by abnormal clonal proliferation of mature B-lymphocytes with involvement in the spleen, bone marrow and, frequently, the blood. It usually presents with splenomegaly, lymphocytosis, anemia and/or thrombocytopenia. Hepatitis C virus and autoimmune manifestations, such as autoimmune hemolytic anemia and autoimmune thrombocytopenia, could be associated." "" + "non-amyloid monoclonal immunoglobulin deposition disease" "" + "nodal marginal zone B-cell lymphoma" "Nodal marginal zone B-cell lymphoma is a rare, indolent B-cell non-Hodgkin lymphoma, characterized by abnormal clonal proliferation of mature B-lymphocytes with involvement of the lymph nodes, sometimes the bone marrow, and rarely the blood. Clinically it presents with disseminated peripheral, abdominal and/or thoracic lymphadenopathy. Cytopenia and bulky tumors (greater than 5 cm) are rare. Association with Hepatitis C virus and chronic inflammation has been reported." "" + "lymphomatoid granulomatosis" "Lymphomatoid granulomatosis (LYG) is a very rare Epstein-Barr virus (EBV)-driven lymphoproliferative disease most commonly occurring in adults (in the fourth to sixth decade of life) and commonly affecting the lungs (with presentations varying from small bilateral pulmonary nodules to large necrotic and sometimes cavitating lesions), skin, central nervous system, and kidneys, but only very rarely affecting the lymph nodes and spleen. The symptoms associated with LYG depend on the site of disease involvement but mainly include cough, dyspnea or chest pain (in those with pulmonary involvement) and constitutional symptoms such as weight loss and fever." "" + "CD4+/CD56+ hematodermic neoplasm" "An aggressive immature hematologic neoplasm formerly known as blastic NK cell lymphoma, composed of cells with a lymphoblast-like morphology. Recent evidence suggests derivation from a plasmacytoid monocyte. Patients present with cutaneous tumors and bone marrow involvement." "" + "T-cell prolymphocytic leukemia" "A slow-growing type of leukemia (blood cancer) in which too many lymphocytes are found in the bone marrow and/or blood. The T-cell is specified as the defective cell line." "" + "T-cell large granular lymphocyte leukemia" "T-cell large granular lymphocyte leukemia (T-cell LGL leukemia) is a lymphoproliferative malignancy that arises from the mature T-cell (CD3+) lineage." "" + "aggressive NK-cell leukemia" "A rare, highly aggressive, Epstein-Barr virus-associated leukemia, also known as aggressive NK-cell leukemia/lymphoma; it may represent the leukemic counterpart of nasal type extranodal NK/T-cell lymphomas. It affects primarily teenagers and young adults. It is characterized by the systemic proliferation of NK cells in the peripheral blood, bone marrow, liver, and spleen." "" + "adult T-cell leukemia/lymphoma" "A peripheral (mature) T-cell neoplasm linked to the human T-cell leukemia virus type 1 (HTLV-1), adult T-cell leukemia/lymphoma is endemic in several regions of the world, in particular Japan, the Caribbean, and parts of Central Africa." "" + "deltaretrovirus infections" "Infections caused by the HTLV or BLV deltaretroviruses. They include human T-cell leukemia-lymphoma (LEUKEMIA-LYMPHOMA, T-CELL, ACUTE, HTLV-I-ASSOCIATED)." "" + "extranodal nasal NK/T cell lymphoma" "Extranodal nasal NK/T cell lymphoma (NKTCL) is a rare, malignant neoplasm mainly affecting men in the fifth decade of life, that usually arises in the nose, paranasal sinuses, orbits or upper airway, and that can present with a nasal mass, nasal bleeding, nasal obstruction, palate perforation (i.e. midline perforation of the hard palate), and mid-facial and/or upper airway destructive lesions. In advanced disease stages, which are associated with a poor prognosis, NKTCL may disseminate to other organs. A few cases of NKTCL presenting primarily in the lymph nodes have also been described." "" + "hepatosplenic T-cell lymphoma" "An extranodal, mature T-cell non-Hodgkin lymphoma that originates from cytotoxic T-cells, usually of gamma/delta T-cell type. It is characterized by the presence of medium-size neoplastic lymphocytes infiltrating the hepatic sinusoids. A similar infiltrating pattern is also present in the spleen and bone marrow that are usually involved at the time of the diagnosis." "" + "subcutaneous panniculitis-like T-cell lymphoma" "Subcutaneous panniculitis-like T-cell lymphoma (SPTCL) is a rare cytotoxic cutaneous lymphoma that has been recognized as a distinct subset of peripheral T-cell lymphomas originating and presenting primarily in the subcutaneous fat tissue." "" + "primary cutaneous peripheral T-cell lymphoma not otherwise specified" "" + "obsolete angioimmunoblastic T-cell lymphoma" "" "true" + "adult nodular lymphocyte predominant Hodgkin lymphoma" "A nodular lymphocyte predominant Hodgkin lymphoma occurring in adults." "" + "histiocytic sarcoma" "An aggressive malignant neoplasm with a poor response to therapy, usually presenting as stage III/IV disease. It is characterized by the presence of neoplastic cells with morphologic and immunophenotypic characteristics similar to those seen in mature histiocytes." "" + "macrophage or histiocytic tumor" "" + "Langerhans cell sarcoma" "A neoplastic proliferation of Langerhans cells with overtly malignant cytologic features. It can be considered a higher grade variant of Langerhans cell histiocytosis (LCH) and it can present de novo or progress from antecedent LCH. (WHO, 2001)" "" + "obsolete follicular dendritic cell sarcoma" "" "true" + "dendritic cell sarcoma not otherwise specified" "" + "methotrexate-associated lymphoproliferative disorders" "Methotrexate-associated lymphoproliferative disorders are rare immunodeficiency-associated lymphoproliferative diseases characterized by lymphoid proliferation or lymphomas (large B-cell lymphoma, T-cell lymphoma, Hodgkin lymphoma, reactive lymphadenitis and a polymorphic post-transplant lymphoproliferative disorder) that develop in patients with different autoimmune diseases treated with methotrexate. Swelling is the predominant manifestation of the disease and regression after methotrexate withdrawal is observed in a significant proportion of patients." "" + "hypothalamic hamartomas with gelastic seizures" "A rare cerebral malformation with epilepsy syndrome characterized by early-onset gelastic (i.e. ictal laughter) or dacrystic (i.e., ictal crying) seizures due to non-neoplastic developmental malformation - hypothalamic hamartomas. In many patients, seizures progress to other seizure types including focal and generalized seizures, with concomitant cognitive decline and behavioral disorders. Some patients also present a precocious puberty." "" + "idiopathic hemiconvulsion-hemiplegia syndrome" "A rare acute encephalopathy with inflammation-mediated status epilepticus characterized by infancy-onset of refractory unilateral, mainly clonic status epilepticus during or shortly after a febrile episode without evidence of central nervous system infection, followed by permanent or transient hemiplegia with a minimum duration of one week. The majority of children develop pharmaco-resistant epilepsy a few months later. Brain imaging shows edematous swelling of the affected hemisphere at the time of the initial status, followed by hemiatrophy that does not correlate with any vascular territory." "" + "epilepsy with myoclonic absences" "" + "myoclonic epilepsy in non-progressive encephalopathies" "A rare epilepsy syndrome characterized by recurrent, long-lasting myoclonic status in infants and young children with a non-progressive encephalopathy, associated with transient and recurring motor, cognitive and/or behavioral disturbances." "" + "diffuse palmoplantar keratoderma - acrocyanosis syndrome" "Diffuse palmoplantar keratoderma-acrocyanosis syndrome is characterised by the association of diffuse palmoplantar keratoderma and acrocyanosis. It has been described in eight members of one family and in two sporadic cases. The mode of inheritance in the familial cases was autosomal dominant." "" + "obsolete rare intellectual disability" "Rare intellectual disability." "True" "true" + "obsolete desmoid tumor" "" "true" + "primary adult heart tumor" "Adult heart tumor refers to neoplasms of the heart that manifest in adults and generally present with a variety of non-specific manifestations (depending on tumor site and infiltration) such as weight loss, exhaustion, hemorrhagic pericardial effusion, heart failure, arrhythmias, and embolisms, or that can also be asymptomatic. In adults 75% of heart tumors are benign, with myxoma being the most common benign tumor (accounting for 50-70% of all primary heart tumors) and rhabdomyosarcoma comprising 75% of malignant heart tumors. Other malignant tumors of the heart include fibrosarcoma and leiomyosarcoma (see these terms)." "" + "primary pediatric heart tumor" "Cardiac tumours are benign or malignant neoplasms arising primarily in the inner lining, muscle layer, or the surrounding pericardium of the heart. They can be primary or metastatic." "" + "obsolete yolk sac tumor" "" "true" + "tungiasis" "An disease or disorder caused by infection with Tunga penetrans." "" + "superior limbic keratoconjunctivitis" "Superior limbic keratoconjunctivitis (SLK) is a chronic and recurrent eye disease which affects thesuperior bulbar conjunctiva (the clear layer that covers the eyeball, over the sclera) and tarsal conjunctiva (the clear layer that lines the eyelids), as well as the superior limbic aspect of the cornea (the area above the cornea). It is commonly found in women 20-70 years of age. The signs and symptoms include burning, redness and irritation and tend to develop slowly over a period of 1 to 10 years.Vision usually remains intact. While the underlying cause ofSLK remains unknown, it is believed that the condition issecondary to superior bulbar conjunctiva laxity. Factors inducing conjunctiva laxity include thyroid eye disease (usually hyperthyroidism), tight upper eyelids, and prominent globes. A mimicking disorder has been encountered in soft contact lens (SCL) wearers, typically with exposure to thimerosal-preserved solutions. Treatment of SLK may involve the use of various medications, surgery, or a combination of both." "" + "obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome" "Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome is characterised by precocious obesity, congenital hypothyroidism, neonatal colitis, cardiac hypertrophy, craniosynostosis and developmental delay. It has been described in two brothers, one of whom died within the first month of life. The parents of the two children were nonconsanguineous and in good health, however, the pregnancies were complicated by a maternal HELLP syndrome (Haemolysis, Elevated Liver enzymes and Low Platelets). The mode of inheritance has not yet been clearly established." "" + "cutaneous leukocytoclastic angiitis" "Cutaneous leukocytoclastic angiitis is a small-vessel vasculitis presenting with palpable purpura and urticarial lesions which predate the purpuric lesions most frequently observed on the legs. Systemic symptoms including fever, cough, hemoptysis, sinusitis, arthralgia, arthritis, myalgia, abdominal pain, diarrhea, hematochezia, paresthesia, weakness, and hematuria may be observed. Skin biopsy reveals exudates rich in neutrophils, endothelial damage, fibrin deposition, and leukocytoclasis in postcapillary venules of small vessels. Cutaneous leukocytoclastic angiitis can be idiopathic (in up to 50% of cases) or secondary to infections, medications (such as antituberculosis medication), collagen vascular diseases, or neoplasms." "" + "obsolete autosomal dominant medullary cystic kidney disease without hyperuricemia" "" "true" + "autosomal dominant medullary cystic kidney disease with hyperuricemia" "An inherited disorder that causes a gradual loss of kidney function that eventually leads to the need for kidney transplantation or dialysis between the ages of 30 and 70, which is caused by a mutation in the UMOD gene, which leads to the build-up of the altered uromodulin protein in the tubules of the kidney, leading to slow loss of kidney function. Patients with ADTKD-UMOD have high blood levels of uric acid before kidney failure develops, and some affected individuals may develop gout." "" + "digestive tract malformation" "" + "obsolete rare dementia" "Rare dementia." "True" "true" + "centripetalis recessive dystrophic epidermolysis bullosa" "Centripetalis recessive dystrophic epidermolysis bullosa (RDEB-Ce) is an extremely rare subtype of dystrophic epidermolysis bullosa (DEB), characterized by blistering which begins acrally and then progressively spreads toward the trunk." "" + "recessive dystrophic epidermolysis bullosa-generalized other" "Recessive dystrophic epidermolysis bullosa (RDEB)-generalized other, also known as RDEB non-Hallopeau-Siemens type, is a subtype of DEB characterized by generalized cutaneous and mucosal blistering that is not associated with severe deformities." "" + "obsolete Walker-Warburg syndrome" "" "true" + "tetrasomy X" "Tetrasomy X is a sex chromosome anomaly caused by the presence of two extra X chromosomes in females (48,XXXX instead of 46,XX)." "" + "tetrasomy" "A chromosomal anomaly consisting of the presence of two chromosomes of the same type in addition to the normal diploid number." "" + "erythema elevatum diutinum" "Erythema elevatum diutinum (EED) is a distinctive form of chronic cutaneous vasculitis, belonging to the group of the neutrophilic dermatoses." "" + "undifferentiated connective tissue syndrome" "An autoimmune disorder which does not meet classification criteria used to establish the presence of other well-defined connective tissue diseases." "" + "IgG4-related hepatopathy" "Inflammatory pseudotumor (IPT) of the liver is a rare benign tumor-like lesion." "" + "radiation myelitis" "A disease characterized by white matter damage to the spinal cord developed after a certain period of application of ionizing radiation." "" + "syndactyly" "A disease characterized by the presence of syndactyly, including syndromic and non-syndromic forms." "" + "hemolytic anemia due to glutathione reductase deficiency" "Haemolytic anaemia due to glutathione reductase (GSR) deficiency is characterised by nearly complete absence of GSR activity in erythrocytes." "" + "autoimmune hemolytic anemia, warm type" "Warm autoimmune hemolytic anemia is the most common form of autoimmune hemolytic anemia defined by the presence of warm autoantibodies against red blood cells (autoantibodies that are active at temperatures between 37-40B0C)." "" + "paroxysmal cold hemoglobinuria" "Paroxysmal cold hemoglobinuria (PCH) is a very rare subtype of autoimmune hemolytic anemia (AIHA), caused by the presence of cold-reacting autoantibodies in the blood and characterized by the sudden presence of hemoglobinuria, typically after exposure to cold temperatures." "" + "mixed-type autoimmune hemolytic anemia" "Mixed autoimmune hemolytic anemia is a type of autoimmune hemolytic anemia (AIHA) defined by the presence of both warm and cold autoantibodies, which have a deleterious effect on red blood cells at either body temperature or at lower temperatures." "" + "drug-induced autoimmune hemolytic anemia" "Drug-induced autoimmune hemolytic anemia is a type of autoimmune hemolytic anemia (AIHA) that occurs as a reaction to therapeutic drugs, and can be due to various mechanisms." "" + "typical hemolytic-uremic syndrome" "Typical hemolytic-uremic syndrome (typical HUS) is a thrombotic microangiopathy characterized by mechanical hemolytic anemia, thrombocytopenia, and renal dysfunction that is usually associated with prodromal enteritis caused by Shigella dysentriae type 1 or E. Coli." "" + "hemoglobin D disease" "Hemoglobin D disease(HbD) is a hemoglobinopathy characterized by production of abnormal variant hemoglobin known as hemoglobin D, with no or mild clinical manifestations (splenomegaly, very mild anemia)." "" + "Gaisbock syndrome" "Polycythemia that is caused by stress." "" + "obsolete retinopathy of prematurity" "" "true" + "diffuse alveolar hemorrhage" "" + "acute liver failure" "Rapid deterioration of liver function causing encephalopathy and coagulopathy. It results from damage to the liver parenchyma usually secondary to acetaminophen overdose or viral infections." "" + "liver failure" "A liver disease characterized by the liver losing or has lost all of its function." "" + "acquired aneurysmal subarachnoid hemorrhage" "Acquired aneurysmal subarachnoid hemorrhage is a serious, life threatening rare neurologic disease characterized by a sudden rupture of an intracranial aneurysm into the subarachnoid space. It usually presents with a sudden, severe, excruciating headache accompanied by nausea, vomiting and syncope. Other features may include focal neurological signs, third and sixth nerve palsies, seizures and cardiac failure. Early complications include rebleeding, hydrocephalus, and seizures." "" + "cocaine intoxication" "" + "systemic monochloroacetate poisoning" "Systemic monochloroacetate poisoning is a rare, life-threatening intoxication with monochloroacetic acid (mainly through the skin, but also by inhalation or ingestion). It is characterized by vomiting, diarrhea and central nervous system (CNS)-excitability (disorientation, delirium, convulsions) as early signs of systemic poisoning, followed by CNS-depression, coma and cerebral edema. Additional signs include heart involvement (severe myocardial depression, shock, arrhythmias, nonspecific myocardial damage), severe metabolic acidosis, hypokalemia, hypocalcemia and progressive renal failure leading to anuria. Myoglobinemia and leukocytosis may occur. Manifestations may be delayed for 1-4 hours." "" + "obsolete other acquired skin disease" "True" "true" + "Wells syndrome" "Wells syndrome is characterised by the presence of recurrent cellulitis-like eruptions with eosinophilia." "" + "severe early-onset axonal neuropathy due to MFN2 deficiency" "Severe early-onset axonal neuropathy due to MFN2 deficiency is a rare axonal hereditary motor and sensory neuropathy characterized by early onset (<10 years) progressive distal muscle weakness and wasting of the lower limbs and later, to a lesser extent the upper limbs resulting in foot and wrist drop, areflexia, skeletal deformities (kyphoscoliosis, pes cavus with flattening, joint contractures), mild sensory impairment with vibration sense reduced to a greater extent than pain, optic atrophy and hearing loss. Wheelchair dependence by adolescence is usual and respiratory impairment with diaphragmatic paralysis may develop." "" + "hereditary motor and sensory neuropathy with acrodystrophy" "Hereditary motor and sensory neuropathy with acrodystrophy is a rare axonal hereditary motor and sensory neuropathy characterized by progressive axonal neuropathy with limb weakness and severe distal sensory loss in all limbs and acrodystrophic changes leading to painless non-healing ulcers, osteomyelitis, contractures and mutilating lesions with loss of terminal phalanges. One family with three affected siblings is described and there have been no further descriptions in the literature since 1999." "" + "centrifugal lipodystrophy" "Centrifugal lipodystrophy is a rare, acquired, localized lipodistrophy characterized by single or, occasionally, multiple, centrifugally progressive, asymptomatic to sometimes mildly tender, hypopigmented, lipoatrophic skin depressions with weakly erymatheous inflammatory borders, typically associated with regional ipsilateral lymph nodes swelling. Lesions typically occur on lower trunk (in particular groin and abdomen region), followed by upper trunk (axilla and neighboring regions) and, rarely, neck and head. It is usually not associated with systemic disease and is typically self-resolving." "" + "drug-induced localized lipodystrophy" "Drug-induced localized lipodystrophy is a rare, acquired, localized lipodystrophy characterized by the appearance of asymptomatic, well-demarcated, variably sized, depressed, lipoatrophic lesions secondary to subcutaneous, intradermic or intramuscular drug injection, including corticosteroids, insulin, human growth hormone and antibiotics. Skin coloration may vary from white or hypopigmented to reddish, pinkish or violaceous. Epidermal atrophy may be also present." "" + "idiopathic localized lipodystrophy" "Idiopathic localized lipodystrophy is a rare, acquired, localized lipodystrophy characterized by asymptomatic, well-demarcated, depressed, lipoatrophic lesions of variable size, with normal overlying skin without antecedent inflammation or a known identifiable cause (autoimmune disease, drug injection, injury, etc)." "" + "panniculitis and localized lipodystrophy" "" + "pressure-induced localized lipoatrophy" "Pressure-induced localized lipoatrophy is a rare, acquired, localized lipodystrophy characterized by band-like, horizontal, asymptomatic, lipoatrophic depressions with clinically normal overlying skin usually involving the anterolateral aspect of the thighs. An identifiable history of the repeated mechanical microtrauma due to occupational or postural habits is present." "" + "discoid lupus erythematosus" "A chronic, autoimmune skin condition that manifests with a red, scaling rash, most often found on the face, ears, and scalp; these lesions often lead to permanent scarring and dyspigmentation. Patients may have lesions with or without other symptoms or antibodies suggestive of systemic lupus erythematosus (SLE)." "" + "hypertrophic or verrucous lupus erythematosus" "" + "lupus erythematosus tumidus" "Tumid erythematosus lupus is considered a rare type of chronic cutaneous lupus erythematosus. Cutaneous lupus erythematosus (CLE) can be divided into acute cutaneous lupus, subacute cutaneous lupus, and chronic cutaneous lupus. Tumid erythematosus lupus is characterized by smooth, non-scarring, pink- to violet-colored pimples (papules)on the skin without any other apparent skin changes, such as scarring. Patients with tumid lupus erythematosus usually do not have other symptoms of systemic lupus erythematosus or other types of cutaneous lupus erythematosus. The papules appear on sun-exposed areas of the face, upper back, V area of the neck, trunk, and arms, and more rarely on thighs and legs. They usually affect equally both sides of the body, but may affect only one side. Normally, the papules clear without leaving scars. The treatment is very effective in most cases, and may include sun protection, anti-malarials drugs, local corticosteroids, topical tacrolimus and light therapy." "" + "lupus erythematosus panniculitis" "A type of lupus erythematosus characterized by deep dermal or subcutaneous nodules, most often on the head, face, or upper arms. It is generally chronic and occurs most often in women between the ages of 20 and 45." "" + "localized scleroderma" "Localized scleroderma is the skin localized form of scleroderma characterized by fibrosis of the skin causing cutaneous plaques or strips." "" + "CREST syndrome" "CREST syndrome is a subtype of limited cutaneous systemic sclerosis (lcSSc) whose name is an acronym for the cardinal clinical features of the syndrome: calcinosis, Raynaud's phenomenon, esophageal dysmotility, sclerodactyly and telangiectasia." "" + "obsolete systemic sclerosis" "" "true" + "von Willebrand disease (hereditary or acquired)" "Hereditary or acquired coagulation disorder characterized by a qualitative or quantitative deficiency of the von Willebrand factor. The latter plays an important role in platelet adhesion. Signs and symptoms include bruises, nose bleeding, gum bleeding following a dental procedure, heavy menstrual bleeding, and gastrointestinal bleeding." "" + "obsolete Klippel-Trenaunay syndrome" "" "true" + "Ehlers-Danlos syndrome, classic type, 1" "Any Ehlers-Danlos syndrome in which the cause of the disease is a mutation in the COL5A1 gene." "" + "Ehlers-Danlos syndrome, classic type, 2" "Any Ehlers-Danlos syndrome in which the cause of the disease is a mutation in the COL5A2 gene." "" + "Cockayne syndrome type 1" "Cockayne syndrome caused by mutation(s) in the ERCC8 gene, encoding DNA excision repair protein ERCC-8." "" + "Cockayne syndrome type 2" "Cockayne syndrome caused by mutation(s) in the ERCC6 gene, encoding DNA excision repair protein ERCC-6." "" + "secondary intestinal lymphangiectasia" "Secondary intestinal lymphangiectasia is an acquired from of intestinal lymphangiectasia manifesting as a protein-losing enteropathy due to another disorder such as CrohnBs disease, congestive heart failure, sarcoidosis, Turner syndrome and often in patients who have undergone a Fontan operation. It is characterized by malabsorption, diarrhea, edema due hypoproteinemia, steatorrhea and serosal effusions." "" + "telangiectasia macularis eruptiva perstans" "" + "nodular lichen myxedematosus" "Nodular lichen myxedematosus is a rare form of localized lichen myxedematosus characterized by the development of skin-coloured mucinous nodules on the limbs and trunk, with mild or absent papular eruption." "" + "discrete papular lichen myxedematosus" "Discrete papular lichen myxedematosus is a rare chronic, slowly progressive form of localized lichen myxedematosus characterized by the development of a few to multiple small symmetrical skin-coloured mucinous papules on the limbs and trunk." "" + "papular mucinosis of infancy" "Papular mucinosis of infancy is a rare pediatric non progressive form of localized lichen myxedematosus characterized by the development of firm opalescent mucinous papules on the upper arms and the trunk." "" + "acral persistent papular mucinosis" "Acral persistent papular mucinosis is a rare chronic form of localized lichen myxedematosus characterized by the development of multiple symmetrical skin-colored mucinous papules exclusively on the extensor surface of the hands and distal forearms." "" + "self-healing papular mucinosis" "Self-healing papular mucinosis is a rare form of localized lichen myxedematosus occurring primarily in children and characterized by the development of mucinous papules on various parts of the body (face, neck, trunk, and limbs) that resolve spontaneously within some weeks to months. Systemic symptoms can be observed such as fever, arthralgias and weakness." "" + "localized lichen myxedematosus with mixed features of different subtypes" "Localized lichen myxedematosus (LM) with mixed features of different subtypes is a form of atypical lichen myxedematosus, characterized by mixed features of the 5 subtypes of localized LM which are: discrete papular LM, acral persistent papular mucinosis, self-healing papular mucinosis, papular mucinosis of infancy, and nodular LM." "" + "localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms" "Localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms is a form of atypical lichen myxedematosus, characterized by the appearance of several 2-4 mm erythematous waxy papules confined to a few sites that may be associated with either an immunoglobulin A (IgA) nephropathy in patients with acral persistent papular mucinosis; discrete papular lichen myxedematosus; a scleromyxedema-like involvement, with dysphagia, hoarseness, pulmonary involvement, and carpal tunnel syndrome; myositis without skin sclerosis; or paraproteinemia." "" + "scleromyxedema without monoclonal gammopathy" "Scleromyxedema without monoclonal gammopathy is a form of atypical lichen myxedematosus, characterized by a generalized sclerodermoid infiltration of skin studded with multiple, firm papules of 1-3 mm in diameter involving face (leonine appearance), trunk, and limbs, without monoclonal gammopathy. The involvement of the face can be missing and pruritus may be prominent." "" + "obsolete disorder of sex development" "In gonochoristic organisms, congenital conditions in which development of chromosomal, gonadal, or anatomical sex is atypical. Effects from exposure to abnormal levels of gonadal hormones in the maternal environment, or disruption of the function of those hormones by ENDOCRINE DISRUPTORS are included." "" "true" + "obsolete fragile X syndrome" "" "true" + "primary lipodystrophy" "Primary lipodystrophies represent a heterogeneous group of very rare diseases characterized by a generalized or localized loss of body fat (lipoatrophy)." "" + "obsolete other inborn metabolic disease" "True" "true" + "osteopenia-myopia-hearing loss-intellectual disability-facial dysmorphism syndrome" "Osteopenia-myopia-hearing loss-intellectual disability-facial dysmorphism syndrome is characterised by severe hypertelorism, brachycephaly, abnormal ears, sloping shoulders, enamel hypoplasia, osteopaenia with frequent fractures, severe myopia, mild to moderate sensorineural hearing loss and mild intellectual deficit. It has been described in two brothers born to first-cousin parents. No chromosomal anomalies were detected. Transmission appears to be autosomal recessive or X-linked." "" + "acquired monoclonal Ig light chain-associated Fanconi syndrome" "A rare monoclonalgammopathy characterized by renal proximal tubule dysfunction secondary to monoclonal kappa light chain deposits in proximal tubular cells. Clinical presentation is with variable chronic kidney disease, low molecular weight proteinuria, aminoaciduria, hyperphosphaturia, uricosuria, bicarbonaturia, and non-diabetic glycosuria. Renal phosphate and urate wasting may cause hypophosphatemia and hypouricaemia." "" + "immunotactoid or fibrillary glomerulopathy" "Immunotactoid or fibrillary glomerulopathy is a group of very rare glomerular diseases, composed of immunotactoid glomerulopathy (ITG) and non-amyloid fibrillary glomerulopathy (non-amyloid FGP), that are characterized by mesangial deposition of monoclonal microtubular or polyclonal fibrillar deposits. Both present clinically with nephrotic range proteinuria, hematuria and renal insufficiency leading to renal failure in many cases. ITG is more likely to manifest with underlying lymphoproliferative disease, hypocomplementemia, dysproteinemia, monoclonal gammopathy or occult cryoglobulinemia. Non-amyloid FGP is 10 times more frequent than ITG." "" + "simple cryoglobulinemia" "Simple (monoclonal) cryoglobulinemia or type I cryoglobulinemia refers to the presence in the serum of one isotype or subclass of immunoglobulin (Ig) that precipitates reversibly below 37°C." "" + "unspecified juvenile idiopathic arthritis" "Unspecified juvenile idiopathic arthritis is a rare, pediatric, rheumatologic disease, a subtype of juvenile idiopathic arthritis (JIA) characterized by arthritis of an unknown cause that persists for at least 6 weeks, and does not fulfill the criteria for any of the other JIA subtypes, or fulfills criteria for more than one of the other subtypes." "" + "Zollinger-Ellison syndrome" "Zollinger-Ellison syndrome (ZES) is characterized by severe peptic disease (ulcers/esophageal disease) caused by hypergastrinemia secondary to a gastrinoma resulting in increased gastric acid secretion." "" + "TSH-secreting pituitary adenoma" "A rare adenoma of the anterior lobe of the pituitary gland that produces thyrotropin. It is usually associated with goiter and hyperthyroidism." "" + "functioning gonadotropic adenoma" "Functioning gonadotropic adenoma is a very rare pituitary tumor, macroscopically characterized by a soft, well vascularized, variable sized adenoma, with occasional areas of hemorrage or necrosis, that secretes biologically active gonadotropins. In addition to common neurological signs due to mass effect (headache and/or visual field deterioration), additional clinical manifestations include menstrual irregularities (secondary amenorrhea, oligomenorhea or severe menorrhagia), galactorrhea, infertility or ovarian hyperstimulation syndrome (in premenopausal women), testicular enlargement and, occasionally, hypogonadism (in men) and isosexual precocious puberty (in children)." "" + "pituitary deficiency due to Rathke's pouch cysts" "" + "pituitary dermoid and epidermoid cysts" "" + "obsolete germinoma of the central nervous system" "" "true" + "pituitary deficiency due to empty sella turcica syndrome" "" + "Sheehan syndrome" "An uncommon cause of hypopituitarism seen after severe postpartum hemorrhaging. Prolonged hypovolemia leads to ischemic necrosis of the pituitary. Clinical signs typically present in the puerperium and include failure to begin lactation, fatigue, hypotension and eventual amenorrhea. Clinical course is usually mild, however extreme cases may progress to adrenal failure. Prognosis is most favorable when hormone replacement is initiated soon after symptom onset." "" + "pituitary hormone defiency from vascular origin" "" + "congenital esophageal diverticulum" "Congenital esophageal diverticulum is a rare, non-syndromic malformation of the esophagus, present at birth, and characterized by a false diverticulum, most often located in the upper, posterior esophagus. Many patients are asymptomatic, but respiratory distress, food regurgitation, dysphagia, chest pain, aspiration pneumonia and discomfort are typical presenting manifestations." "" + "chronic pneumonitis of infancy" "Chronic pneumonitis of infancy is a rare pediatric form of interstitial lung disease (ILD)." "" + "non-specific interstitial pneumonia" "Idiopathic interstitial pneumonia characterized by chronic inflammation and fibrosis in the interstitial lung tissue. It includes cases that cannot be classified into one of the other types of idiopathic interstitial pneumonia." "" + "isolated ankyloblepharon filiforme adnatum" "Isolated ankyloblepharon filiforme adnatum (AFA) is characterised by the presence of single or multiple thin bands of connective tissue between the upper and lower eyelids, preventing full opening of the eye. Several cases have been reported. It can occur sporadically or following an autosomal dominant transmission pattern. In some cases, AFA can be associated with other disorders, such as trisomy 18. The bands should be removed to avoid amblyopia and this can easily be performed in the neonatal period by cutting with tissue scissors." "" + "eyelid border anomaly" "" + "congenital ectropion uveae" "Congenital ectropion uveae is a rare, genetic, non-syndromic developmental defect of the eye characterized by the presence of iris pigment epithelium on the anterior surface of the iris, anterior insertion of the iris, angle dysgenesis and progressive open-angle glaucoma (the latter may present in infancy or may develop later in life). Patients may manifest with headaches, ocular pain, photophobia, and redness, watering and/or swelling of the eye. It can often be associated with neurofibromatosis and less commonly with other ocular abnormalities." "" + "Lyme disease" "Lyme disease (named after the towns in the USA where the disease was first identified) is a bacterial infection caused by Borrelia burgdorferi." "" + "familial nasal acilia" "Familial nasal acilia is a rare genetic otorhinolaryngologic disease characterized by respiratory morbidity due to lack of cilia on the respiratory tract epithelial cells. The disease manifests from birth with respiratory distress, neonatal pneumonia, dyspnea, lobar atelectasis and bronchiectasis. Recurrent infections of the upper and lower respiratory tract, chronic humid coughing, and chronic sinusitis, otitis and rhinitis are typical lifelong presenting conditions." "" + "renal agenesis, unilateral" "Unilateral renal agenesis (URA) is a form of renal agenesis characterized by the complete absence of development of one kidney accompanied by an absent ureter." "" + "renal hypoplasia" "Renal hypoplasia is a developmental anomaly in which one or both kidneys (unilateral or bilateral renal hypoplasia, respectively) have a deficit in the number of nephrons and may be small. Oligomeganephronia represents a severe variant of hypoplasia in which nephron number is reduced by 80% and nephrons are markedly hypertrophied." "" + "renal dysplasia" "Renal dysplasia is a form of renal malformation in which the kidney(s) are present but their development is abnormal and incomplete. Renal dysplasia can be unilateral or bilateral, segmental, and of variable severity, with renal aplasia corresponding to extreme dysplasia." "" + "congenital megacalycosis" "Congenital megacalycosis is a rare renal malformation, characterized by non-obstructive dilation of the renal calyces as well as an increased calyceal number (12-20), with a normal renal pelvis, ureter, and bladder. It may be unilateral or bilateral and is usually asymptomatic unless complicated by nephrolithiasis and urinary tract infection." "" + "posterior urethral valve" "Posterior urethral valve (PUV) is the most common anomaly of fetal lower urinary tract obstruction (LUTO)and is characterized by an abnormal congenital obstructing membrane that is located within the posterior urethra associated with significant obstruction of the male bladder restricting normal bladder emptying." "" + "pauci-immune glomerulonephritis" "Pauci-immune glomerulonephritis (GN) is one of the most frequent causes of rapidly progressive GN (RPGN). It is characterized clinically by renal manifestations of RPGN (hematuria, hypertension) leading to renal failure within days or weeks, and may be associated with manifestations of systemic vasculitis (arthralgia, fever, seizures, mono neuritis and lung involvement). Pauci-immune GN is histologically characterized by focal necrotizing and crescentic GN, with mild or absent glomerular staining for immunoglobulin and complement by fluorescence microscopy, which may manifest either as part of a systemic small vessel vasculitis (including microscopic polyangiitis, granulomatosis with polyangiitis and eosinophilic granulomatosis with polyangiitis), or rarely as part of renal-limited vasculitis (RLV, idiopathic crescentic GN). Immunologic classification is based on the presence or absence of circulating anti-neutrophil cytoplasmic antibodies (ANCAs), namely pauci-immune-GN with ANCA and pauci-immune GN without ANCA." "" + "transient pseudohypoaldosteronism" "Transient pseudohypoaldosteronism is a renal tubulopathy characterized by renal tubular resistance to aldosterone, characterized by hyponatremia, metabolic acidosis and hyperkalemia and manifesting as dehydration, secondary to urinary tract malformation and infections in infants." "" + "renal dysplasia, unilateral" "Unilateral renal dysplasia is a form of renal dysplasia (RD), a renal tract malformation in which the development of one kidney is abnormal and incomplete. Unilateral RD can be segmental, and of variable severity, with renal aplasia corresponding to extreme RD." "" + "renal dysplasia, bilateral" "Bilateral renal dysplasia is a form of renal dysplasia (RD), a renal tract malformation in which the development of both kidneys is abnormal and incomplete. Bilateral RD can be segmental, and of variable severity, with renal aplasia corresponding to extreme RD." "" + "unilateral congenital megacalycosis" "" + "congenital bilateral megacalycosis" "" + "idiopathic steroid-sensitive nephrotic syndrome with focal segmental hyalinosis" "" + "idiopathic steroid-sensitive nephrotic syndrome with minimal change" "" + "idiopathic steroid-sensitive nephrotic syndrome with diffuse mesangial proliferation" "" + "familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation" "" + "familial idiopathic steroid-resistant nephrotic syndrome with minimal changes" "" + "familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis" "" + "sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis" "" + "sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis" "" + "obsolete sporadic idiopathic steroid-resistant nephrotic syndrome with minimal changes" "" "true" + "obsolete sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation" "" "true" + "Pfeiffer syndrome type 1" "Pfeiffer syndrome type 1 (PS1) is a mild to moderately severe type of Pfeiffer syndrome (PS), characterized by bicoronal craniosynostosis, variable finger and toe malformations, and in most cases, normal intellectual development." "" + "Pfeiffer syndrome type 2" "Pfeiffer syndrome type 2 (PS2) is a frequent and severe type of Pfeiffer syndrome (PS), characterized by cloverleaf skull, severe associated functional disorders, and hand/foot and elbow/knee abnormalities." "" + "Pfeiffer syndrome type 3" "Pfeiffer syndrome type 3 (PS3) is a severe type of Pfeiffer syndrome (PS), characterized by bicoronal craniosynostosis, severe associated functional disorders, and hand, foot and elbow abnormalities." "" + "obsolete short rib-polydactyly syndrome, Saldino-Noonan type" "" "true" + "monostotic fibrous dysplasia" "Fibrous dysplasia of bone involving only one bone." "" + "spondyloepimetaphyseal dysplasia, PAPSS2 type" "Spondyloepimetaphyseal dysplasia (SEMD), Pakistani type is characterized by short stature, short and bowed lower limbs, mild brachydactyly, kyphoscoliosis, abnormal gait, enlarged knee joints, precocious osteoarthropathy, and normal intelligence." "" + "adenoma of pancreas" "" + "hypochondrogenesis" "" + "postaxial polydactyly" "" + "brachydactyly type A5" "Brachydactyly type A5 (BDA5) is a very rare congenital malformation of the digits characterized by absence of the middle phalanges (usually of digits 2 to 5), nail dysplasia and duplicated terminal phalanx of the thumb." "" + "brachydactyly type A7" "Brachydactyly type A7 (Smorgasbord type) is a form of brachydactyly that presents with the characteristic features of brachydactyly type A2 (shortening of the middle phalanges of the index finger and, sometimes, of the little finger) and type D (shortening of the distal phalanx of the thumb) plus various additional features." "" + "genochondromatosis type 2" "Genochondromatosis type 2 is a rare genetic bone development disorder characterized by normal clavicles and symmetrical generalized metaphyseal enchondromas particularly in the distal femur, proximal humerus, and bones of the wrists, hands, and feet. Lesions regress later in life with growth cartilage obliteration. Clinical examination is normal and the course of the disease is benign." "" + "juvenile sialidosis type 2" "" + "congenital sialidosis type 2" "" + "obsolete rare bone disease" "Rare bone disease." "True" "true" + "obsolete type 11 collagen-related bone disorder" "" "true" + "obsolete cleidocranial dysplasia and isolated cranial ossification defect" "" "true" + "obsolete dysostosis with predominant craniofacial involvement" "" "true" + "obsolete dysostosis with predominant vertebral and costal involvement" "" "true" + "pediatric systemic lupus erythematosus" "" + "type II mixed cryoglobulinemia" "Type II mixed cryoglobulinemia, a relatively rare clinico-serological subtype of mixed cryoglobulinemia (MC), is an immune complex disorder characterized by purpura, weakness and arthralgia and defined immunochemically by cryoglobulins composed of polyclonal IgGs (autoantigens) and monoclonal IgM (autoantibody)." "" + "mixed cryoglobulinemia type III" "Type III mixed cryoglobulinemia, a relatively rare clinico-serological subtype of mixed cryoglobulinemia (MC), is an immune complex disorder characterized by purpura, weakness and arthralgia and defined immunochemically by cryoglobulins containing both polyclonal IgGs and polyclonal IgMs." "" + "heavy chain deposition disease" "" + "light and heavy chain deposition disease" "" + "light chain deposition disease" "Light chain deposition disease (LCDD) is a rare condition characterized by the deposition of specific proteins (monoclonal light chains) in the kidneys and other organs. Light chains are used to make antibodies that the body needs to fight infection. People with LCDD make too many light chains, which get deposited in many body tissues. While LCDD can occur in any organ, the kidneys are always involved. Signs and symptoms of LCDD may include protein in the urine ; decreased kidney function; and/or nephrotic syndrome. Rarely, a person with LCDD may have symptoms from cardiac (heart) or liver involvement. The underlying cause of LCDD is unknown. It is often associated with multiple myeloma. LCDD may progress to multiple myeloma, or it may be present with multiple myeloma when it is first diagnosed. The goal of treating LCDD is to slow the production of light chains and their damage to organs. Treatment may include chemotherapy with a drug called Bortezomib ; autologous stem cell transplantation ; immunomodulatory drugs; and/or kidney transplant. If untreated, end-stage renal disease occurs in 70% of cases." "" + "AApoAI amyloidosis" "" + "ALys amyloidosis" "" + "AFib amyloidosis" "" + "juvenile polymyositis" "An idiopathic inflammatory myopathy of childhood resulting in muscle weakness." "" + "polymyalgia rheumatica" "A syndrome characterized by pain, stiffness, and tenderness of the proximal muscle groups including the shoulder, pelvic girdle and the neck. There is no muscle atrophy and muscle biopsies do not reveal pathologic changes. Additional signs and symptoms include low grade fever, fatigue and depression." "" + "dense deposit disease" "Dense deposit disease, a histological subtype of MPGN is an idiopathic chronic progressive kidney disorder distinguished by the presence of intra-membranous dense deposits in addition to immune complex subendothelial deposits in the glomerular capillary walls. This form often has a higher recurrence rate after a kidney transplant and is associated with extra-renal manifestations such as familial drusen." "" + "atypical hemolytic-uremic syndrome with H factor anomaly" "" + "atypical hemolytic-uremic syndrome with anti-factor H antibodies" "" + "acquired thrombotic thrombocytopenic purpura" "Acquired thrombotic thrombocytopenic purpura is the non-hereditary form of thrombotic thrombocytopenic purpura (TTP), characterized by profound peripheral thrombocytopenia, microangiopathic hemolytic anemia (MAHA) and single or multiple organ failure of variable severity." "" + "late-onset nephronophthisis" "" + "obsolete rare renal tubular disease" "True" "true" + "cystinuria type A" "" + "cystinuria type B" "" + "obsolete rare cause of hypertension" "True" "true" + "obsolete rare renal tumor" "Any of the forms of kidney neoplasm that have a rare incidence." "True" "true" + "obsolete rare renal disease" "Any of the forms of urinary system disease that have a rare incidence." "True" "true" + "pediatric Castleman disease" "Pediatric Castleman disease (PCD) is a form of Castleman disease (CD) with a predominant occurrence in teenagers which is either asymptomatic or manifest by systemic (such as fever, anemia, fatigue and failure to thrive) or compressive symptoms." "" + "localized Castleman disease" "Localized Castleman disease (LCD) is the most common form of Castleman disease (CD) and it is usually asymptomatic or it may present with enlarged lymph nodes. LCD may be cured by surgical resection." "" + "multicentric Castleman disease" "Multicentric castleman disease (MCD) is an aggressive form of Castleman disease that mostly results from human herpesvirus 8 (HHV8) infection. It manifests by fever, diffuse lymphadenopathy, hepatosplenomegaly, Involvement of the respiratory system and increased C-reactive protein." "" + "epispadias" "Epispadias is a congenital genitourinary malformation belonging to the spectrum of the exstrophy-epispadias complex (EEC) and is characterized in males by an ectopic meatus or a mucosal strip in place of the urethra on the penile dorsum and in females by bifid clitoris and a variable cleft of the urethra." "" + "terminal transverse defects of arm" "" + "laryngotracheoesophageal cleft type 1" "Laryngo-tracheo-esophageal cleft (LC) type 1 is a congenital respiratory tract anomaly characterized by a supraglottic, interarytenoid cleft above the vocal folds with moderate respiratory symptoms." "" + "laryngotracheoesophageal cleft type 2" "Laryngo-tracheo-esophageal cleft (LC) type 2 is a congenital respiratory tract anomaly characterized by a cleft extending below the vocal folds into the cricoid cartilage, with swallowing disorders and lung infections." "" + "laryngotracheoesophageal cleft type 3" "Laryngo-tracheo-esophageal cleft (LC) type 3 is a congenital respiratory tract anomaly characterized by a cleft extending through the cricoid cartilage, sometimes into the cervical trachea, with severe swallowing disorders, lung infections and pulmonary damage." "" + "laryngotracheoesophageal cleft type 4" "Laryngo-tracheo-esophageal cleft (LC) type 4 is a serious congenital respiratory tract anomaly characterized by a cleft extending into the thoracic trachea and possibly down to the carina, with respiratory distress." "" + "Celosomia" "" + "X-linked intellectual disability, Porteous type" "" + "hamel cerebro-palato-cardiac syndrome" "Hamel cerebro-palato-cardiac syndrome is an X-linked intellectual disability syndrome (XLMR) characterized by intellectual deficiency, microcephaly and short stature. It belongs to the group of disorders collectively referred to as Renpenning syndrome." "" + "X-linked intellectual disability, Golabi-Ito-hall type" "Golabi-Ito-Hall syndrome is an X-linked intellectual disability syndrome (XLMR) characterized by intellectual deficiency, microcephaly and short stature. It belongs to the group of disorders collectively referred to as Renpenning syndrome." "" + "X-linked intellectual disability, Sutherland-Haan type" "" + "X-linked dominant intellectual disability-epilepsy syndrome" "" + "oromandibular dystonia" "Oromandibular dystonia (OMD) is a form of focal dystonia, affecting the lower part of the face and jaws. It is characterized by sustained or repetitive involuntary jaw and tongue movements and facial grimacing caused by involuntary spasms of the masticatory, facial, pharyngeal, lingual, and lip muscles." "" + "blepharospasm-oromandibular dystonia syndrome" "Blepharospasm-oromandibular dystonia, also called Meige dystonia or Meige syndrome is a focal dystonia involving symmetrical benign essential blepharospasm (BEB) and oromandibular dystonia." "" + "Holmes-Gang syndrome" "Holmes-Gang syndrome is an X-linked mental retardation (XLMR) syndrome belonging to the group of conditions characterised by the association of intellectual deficit with hypotonic facies (Mental retardation, X-linked-hypotonic facies)." "" + "Chudley-Lowry-Hoar syndrome" "Chudley-Lowry syndrome is an X-linked mental retardation (XLMR) syndrome belonging to the group of conditions characterised by the association of intellectual deficit with hypotonic facies (Mental retardation-hypotonic facies)." "" + "Juberg-Marsidi syndrome" "Juberg-Marsidi syndrome is an X-linked mental retardation (XLMR) syndrome belonging to the group of conditions characterised by the association of intellectual deficit with hypotonic facies (Mental retardation, X-linked-hypotonic facies)." "" + "Carpenter-Waziri syndrome" "Carpenter-Waziri syndrome is an X-linked mental retardation (XLMR) syndrome belonging to the group of conditions characterised by the association of intellectual deficit with hypotonic facies (Mental retardation, X-linked-hypotonic facies)." "" + "Smith-Fineman-Myers syndrome" "Smith-Fineman-Myers syndrome (SFMS) is an X-linked mental retardation (XLMR) syndrome belonging to the group of conditions characterised by the association of intellectual deficit with hypotonic facies (Mental retardation, X-linked-hypotonic facies)." "" + "Renier-Gabreels-Jasper syndrome" "Renier-Gabreels-Jasper syndrome is an X-linked mental retardation (XLMR) syndrome belonging to the group of conditions characterised by the association of intellectual deficit with hypotonic facies (Mental retardation, X-linked-hypotonic facies)." "" + "anotia" "Anotia is a congenital malformation of the external ear and the most extreme form of microtia characterized by the complete absence of the external ear and auditory canal, conductive hearing loss, attention deficit disorders and delayed language development." "" + "neovascular glaucoma" "Neovascular glaucoma is the most common type of secondary glaucoma, usually caused by diabetic retinopathy, central retinal vein occlusion and carotid artery obstruction but sometimes by trauma, uvietis or ocular tumors, and characterized by severe eye pain, synechial angle glaucoma, high intraocular pressure and leading to loss of vision." "" + "12q14 microdeletion syndrome" "12q14 microdeletion syndrome is characterised by mild intellectual deficit, failure to thrive, short stature and osteopoikilosis. It has been described in four unrelated patients. The syndrome appears to be caused by a heterozygous deletion at chromosome region 12q14, which was detected in three of the four patients. The deleted region contains the LEMD3 gene: mutations in this gene have already been implicated in osteopoikilosis." "" + "obsolete 15q24 microdeletion syndrome" "" "true" + "severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia" "Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia is characterised by severe intellectual deficit, epilepsy, hypoplasia of the terminal phalanges, and an anteriorly displaced anus. It has been described in two sisters born to consanguineous parents. The syndrome is transmitted as an autosomal recessive trait and appears to be caused by anomalies in to chromosome regions, one localised to chromosome 1 and the other to chromosome 14." "" + "cytophagic histiocytic panniculitis" "Cytophagic histiocytic panniculitis (CHP) is a very rare form of panniculitis manifesting as recurrent multiple subcutaneous nodules (which may progressively become ecchymotic and ulcerated), and histologically characterized by lobular panniculitis with lymphocytic and histiocytic infiltration in the subcutaneous adipose tissue." "" + "neuroleptic malignant syndrome" "Neuroleptic malignant syndrome (NMS) is an idiosyncratic condition associated with administration of antipsychotic and other central dopaminergic blockers, and characterized by hyperthermia, muscular rigidity, autonomic dysfunction and altered consciousness." "" + "recessive mitochondrial ataxia syndrome" "" + "acalvaria" "Acalvaria is a rare malformation defined as missing scalp and flat bones over an area of the cranial vault. The size of the affected area is variable. In rare cases, acalvaria involves the whole of the dome-like superior portion of the cranium comprising the frontal, parietal, and occipital bones. Dura mater and associated muscles are absent in the affected area but the central nervous system is usually unaffected, although some neuropathological abnormality is often present (e.g. holoprosencephaly or gyration anomalies). Skull base and facial bones are normal." "" + "obsolete acute hepatic porphyria" "" "true" + "hepatoerythropoietic porphyria" "Hepatoerythropioetic porphyria (HEP) is a very rare form of chronic hepatic porphyria characterized by bullous photodermatitis." "" + "secondary short bowel syndrome" "Secondary short bowel syndrome is an intestinal failure caused by any condition that results in a functional small intestine of less than 200 cm in length and is characterized by diarrhea, nutrient malabsoption, bowel dilation and dysmobility." "" + "tracheomalacia" "Congenital tracheomalacia is a rare condition where the trachea is soft and flexible causing the tracheal wall to collapse when exhaling, coughing or crying, that usually presents in infancy, and that is characterized by stridor and noisy breathing or upper respiratory infections. Tracheomalacia improves by the age of 18-24 months." "" + "twin to twin transfusion syndrome" "Twin twin transfusion syndrome (TTTS) is a rare condition seen in twin monochorionic pregnancies, typically developing during the 15-26 week gestation period and usually due to unbalanced intertwin placental anastomoses, where an unequal exchange of blood between twins causes oligohydramnios in one sac and polyhydramnios in the other which can lead to a high perinatal mortality rate and a high rate of disability in survivors if left untreated" "" + "mesocardia" "" + "aortic valve atresia" "A rare congenital heart defect characterized by the complete failure of the aortic valve to open. It is manifested during infancy with cyanosis, dyspnea, and rapidly progressing heart failure." "" + "congenital aortic valve insufficiency" "Dysfunction of the aortic valve characterized by incomplete valve closure that is present at birth." "" + "tricuspid valve agenesis" "" + "obsolete tricuspid valve prolapse" "" "true" + "congenital tricuspid stenosis" "" + "straddling or overriding tricuspid valve" "Straddling or overriding tricuspid valve is a rare, congenital, tricuspid valve malformation characterized by the tricuspid valve that overrides the ventricular septum and communicates with both ventricles, as part of the tension apparatus of the valve crosses the ventricular septal defect and is attached in the left ventricle. The anomaly occurs with other congenital heart defects (transposition of great vessels, left ventricle outflow tract obstruction, double outlet right ventricle, hypoplastic right ventricle), which determine the main clinical manifestation." "" + "accessory tricuspid valve tissue" "Accessory tricuspid valve tissue is a rare, congenital, atrioventricular valve malformation characterized by fixed or mobile accessory tissue on the tricuspid valve, usually associated with other complex congenital heart anomalies (atrial septal defect, ventricular septal defect, transposition of great arteries, tetralogy Fallot). It may present clinically with systolic murmur, dyspnea, cyanosis, depending also on accompanying congenital heart anomaly." "" + "anomaly of the tricuspid subvalvular apparatus" "" + "cleft mitral valve" "" + "double-orifice mitral valve" "" + "aneurysm or dilatation of ascending aorta" "" + "premature closure of the arterial duct" "Premature closure of the arterial duct is a rare arterial duct anomaly, defined as a significant constriction or closure of the fetal arterial duct in the absence of structural heart defects with pathognomonic features of increased right ventricular afterload, tricuspid regurgitation and, consequently, right atrial dilation and right ventricular hypertrophy. The severity of symptoms is related to the degree and rate of ductal constriction and ranges from mild postnatal respiratory distress to development of ventricular failure with fetal hydrops and intrauterine death or severe cardiopulmonary compromise in the postnatal period. It may be associated with a prenatal exposure to cyclooxygenase inhibitors or corticosteroids." "" + "congenital coronary artery aneurysm" "Congenital coronary artery aneurysm is a rare congenital coronary artery malformation defined as a more than 1.5 fold the normal size dilatation of a coronary artery segment with no identified underlying inflammatory or connective tissue disease. It may be asymptomatic or may present with angina pectoris, myocardial infarction, sudden cardiac death, fistula formation, pericardial tamponade, compression of surrounding structures, or congestive heart failure." "" + "abnormal origin or aberrant course of coronary artery" "" + "pituitary stalk interruption syndrome" "Pituitary stalk interruption syndrome (PSIS) is a congenital abnormality of the pituitary that is responsible for pituitary deficiency and is usually characterized by the triad of a very thin or interrupted pituitary stalk, an ectopic (or absent) posterior pituitary (EPP) and hypoplasia or aplasia of the anterior pituitary visible on MRI. In some patients the abnormality may be limited to EPP (also called ectopic neurohypophysis) or to an interrupted pituitary stalk." "" + "congenital anomaly of superior vena cava" "" + "congenital anomaly of the inferior vena cava" "" + "congenital anomaly of the coronary sinus" "" + "hypophysitis" "Inflammation of the pituitary gland." "" + "congenital anomaly of hepatic vein" "" + "atrial appendage anomaly" "" + "adenohypophysitis" "An autoimmune disease of the pituitary gland which can present with varying degrees of pituitary hormonal impairment and/or with symptoms related to pituitary enlargement. It predominantly affects young women in pregnancy or the peripartum period." "" + "panhypophysitis" "" + "acropectororenal dysplasia" "Acro-pectoro-renal field defect is a very rare association of a Poland anomaly, that is characterized by unilateral absence or hypoplasia of the pectoralis major muscle (most frequently involving the sternocostal head) and a variable degree of ipsilateral hand anomalies (including symbrachydactyly, brachydactyly, absent thumb and hypoplastic fingers), combined with a genito-urinary anomaly. Associated genito-urinary anomalies reported include renal hypoplasia or agenesis, duplex collecting system, ureteropelvic junction obstruction, hypospadias and undescended testicles." "" + "obsolete pituitary apoplexy" "" "true" + "iatrogenic or traumatic pituitary deficiency" "" + "acquired central diabetes insipidus" "Acquired central diabetes insipidus (acquired CDI) is a subtype of central diabetes insipidus (CDI), characterized by polyuria and polydipsia, due to an idiopathic or secondary decrease in vasopressin (AVP) production." "" + "obsolete congenital adrenal hypoplasia of maternal cause" "" "true" + "posterior hypospadias" "Posterior hypospadias is a rare, non-syndromic, urogenital tract malformation characterized by an ectopic urethral meatus opening located in the posterior penis, the penoscrotal junction, the scrotum or the perineum, which often appears stenotic. The scrotum might appear bifid in severe cases and micropenis is not commonly associated. Urinary tract malformations, such as ureteropelvic junction obstruction, vesicoureteric reflux, pelvic or horseshoe kidney, crossed renal ectopia, renal agenesis, may be observed." "" + "isolated micropenis" "" + "obsolete precocious puberty" "" "true" + "congenital hypothyroidism due to developmental anomaly" "Thyroid dysgenesis is a type of primary congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth." "True" + "thyroid ectopia" "Thyroid ectopia is a form of thyroid dysgenesis characterized by an ectopic location of the thyroid gland that results in primary congenital hypothyroidism, a permanent thyroid deficiency that is present from birth." "" + "athyreosis" "Athyreosis is a form of thyroid dysgenesis characterized by complete absence of thyroid tissue that results in primary congenital hypothyroidism, a permanent thyroid deficiency that is present from birth." "" + "congenital hypothyroidism due to transplacental passage of maternal TSH-binding inhibitory antibodies" "Congenital hypothyroidism due to transplacental passage of maternal thyroid-stimulating hormone (TSH)-binding inhibitory antibodies is a type of transient congenital hypothyroidism, a thyroid hormone deficiency that is not permanent." "" + "idiopathic congenital hypothyroidism" "Idiopathic congenital hypothyroidism is a type of primary congenital hypothyroidism whose cause and prevalence are unknown." "" + "thyroid hemiagenesis" "Thyroid hemiagenesis is a form of thyroid dysgenesis characterized by an absence of half of the thyroid gland that is usually asymptomatic but may result in primary congenital hypothyroidism, a permanent thyroid deficiency that is present from birth." "" + "thyroid hypoplasia" "Thyroid hypoplasia is a form of thyroid dysgenesis characterized by incomplete development of the thyroid gland that results in primary congenital hypothyroidism, a permanent thyroid deficiency that is present from birth." "" + "levocardia" "A condition where the heart is in the correct anatomic position but some or all of the other thoracoabdominal viscera are in the opposite lateral orientation." "" + "obsolete acro-renal-ocular syndrome" "" "true" + "tetrasomy 21" "Tetrasomy 21 is an extremely rare autosomal anomaly resulting from the presence of 4 copies of chromosome 21, characterized by features of trisomy 21 including developmental delay/intellectual disability, muscular hypotonia, short neck with redundant skin, brachycephaly, microcephaly, flat face, epicanthus, upslanted palpebral fissures, small ears, protruding tongue, single transverse palmar crease, brachydactyly, hypoplastic iliac wings, together with additional features such as prematurity, intrauterine growth retardation, high and broad forehead, hypertelorism. Haematological malignancies are also associated and may occur earlier than in trisomy 21." "" + "mosaic trisomy 4" "Mosaic Trisomy 4 is a rare autosomal anomaly, due to the presence of an extra copy of chromosome 4 in a fraction of all cells, with a variable phenotype characterized by intrauterine growth retardation, low birth weight/length/OFC, mild intellectual deficit, congenital heart defects, hypertrophic cardiomyopathy, dysmorphic features (asymmetry of the face, eyebrow anomalies, low-set, posteriorally rotated, dysplastic ears, micro-/retrognathia), characteristic thumb abnormalities (aplasia, hypoplasia) and skin abnormalities (hypo/hyperpigmentation). Delayed puberty may be associated." "" + "mosaic trisomy 5" "Mosaic trisomy 5 is a rare chromosomal anomaly syndrome with a variable phenotype ranging from clinically normal to patients presenting intrauterine growth retardation, congenital heart anomalies (mainly ventricular septal defect), multiple dysmorphic features (e.g. hypertelorism, prominent nasal bridge) and other congenital anomalies (incl. eventration of diaphragm, agenesis of corpus callosum, cloverleaf skull, clinodactyly, anteriorly placed anus). Psychomotor development may be normal in spite of low growth parameters being associated." "" + "mosaic trisomy 8" "Mosaic trisomy 8 is a chromosomal disorder defined by the presence of three copies of chromosome 8 in some cells of the organism. It is characterized by facial dysmorphism, mild intellectual deficit and joint, urinary, cardiac and skeletal anomalies." "" + "chromosome 8, trisomy" "A chromosomal abnormality consisting of the presence of a third copy of chromosome 8 in somatic cells." "" + "mosaic trisomy 10" "Mosaic trisomy 10 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, principally characterized by growth delay, craniofacial dysmorphism (incl. prominent forehead, hypertelorism, upslanting palpebral fissures, blepharophimosis, low-set malformed large ears, high arched palate, cleft lip/palate, retrognathia) and cardiac, renal and skeletal (e.g. radial ray defects, scoliosis) malformations, with death usually ocurring neonatally or in early infancy. Other reported features include central nervous system and ear anomalies, as well as facial clefts and anal atresia." "" + "mosaic trisomy 22" "Mosaic trisomy 22 isa chromosome disorder in which chromosome 22 is present three times, instead of the usual two times, in some cells of the body. The range and severity of the disorder can vary widely. Some of the features that have been associated with this conditioninclude growth delays,cognitive deficiencies, unequal developmentof the two sides of the body (hemidystrophy), webbing of the neck, abnormal deviation of the elbows when extended (cubitus valgus), multiple pigmented moles or birthmarks, distinctive malformations of the head and face, and other physical abnormalities. A number of cases of children with mosaic trisomy 22 and normal growth and development have also been described." "" + "trisomy 22" "Trisomy 22 is a chromosome disorder in which an extra (third) copy of chromosome 22 is present in every cell of the body where there should normally only be two copies. This condition is commonly found in miscarriages, but only rarely in liveborn infants. Most affected individuals die shortly before or shortly after birth due to severe complications. Common features include an underdeveloped midface (midface hypoplasia)with flat/broad nasal bridge, malformed ears with pits or tags, cleft palate, hypertelorism (wide-spaced eyes), microcephaly and other cranial abnormalities, congenital heart disease, genital abnormalities, and intrauterine growth restriction (IUGR)." "" + "distal trisomy 1p36" "Distal trisomy 1p36 is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 1, characterized by borderline to mild intellectual disability, mild developmental delay, metopic craniosynostosis and mild craniofacial dysmorphism (incl. slopping forehead, bitemporal narrowing, blepharophimosis). Other associated abnormalities may include growth retardation, microcephaly, large hands, syndactyly, supernumerary ribs, rectal stenosis and/or anterior displacement of anus. Congenital heart malformations (e.g. atrial septal defect, patent ductus arteriosus) have also been reported." "" + "distal trisomy 2p" "Distal trisomy 2p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 2, with a highly variable phenotype principally characterized by pre- and post-natal growth failure, global developmental delay, facial dysmorphism (incl. high forehead/frontal bossing, abnormal ear shape and/or position, hypertelorism/telecanthus, broad/depressed nasal bridge) and ocular anomalies (e.g. exophthalmos, retinal hypopigmentation, optic nerve and foveal hypoplasia). Other reported anomalies include generalized hypotonia, pectus excavatum, long fingers and toes, syndactyly, congenital heart (e.g. ventricular and atrial septal defects) and neural tube defects, seizures, pulmonary hypoplasia, diaphragmatic hernia and urogenital anomalies." "" + "distal trisomy 3p" "Distal trisomy 3p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 3, with highly variable phenotype principally characterized by craniofacial dysmorphism (incl. brachy-/microcephaly, square facies, frontal bossing, bitemporal indentation, hypertelorism/telecanthus, low-set and/or dysmorphic ears, short nose with broad, flat nasal bridge, prominent cheeks and philtrum, downturned corners of mouth, micrognathia/retrognathia, short neck) associated with psychomotor delay, moderate to severe intellectual disability, cardiac (e.g. patent ductus arteriosus) and urogenital (e.g. renal hypoplasia, hypogenitalism) abnormalities, as well as seizures and presence of whorls on fingers." "" + "4p16.3 microduplication syndrome" "4p16.3 microduplication syndrome is a rare genetic syndrome that results from the partial duplication of the short arm of chromosome 4. It has a highly variable phenotype, principally characterized by psychomotor and language delay, seizures and dysmorphic features such as high forehead with frontal bossing, hypertelorism, prominent glabella, long narrow palpebral fissures, low set ears and short neck. Eye abnormalities (glaucoma, irregular iris pigmentation, hyperopia) have also been reported." "" + "distal trisomy 7p" "Distal trisomy 7p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 7, with highly variable phenotype typically characterized by severe to profound psychomotor delay, intellectual disability, dysmorphic features (incl. dolichocephaly, microbrachycephaly, high and/or broad forehead, large anterior fontanel, hypertelorism, downslanting palpebral fissures, low-set, dysplastic ears, low, broad and prominent nasal bridge, abnormal palate, micro-/retrognathia), and hypotonia. Cardiovascular, gastrointestinal, skeletal and urogenital anomalies have commonly been reported." "" + "Beckwith-Wiedemann syndrome due to 11p15 microduplication" "" + "8p inverted duplication/deletion syndrome" "8p inverted duplication/deletion [invdupdel(8p)] syndrome is a rare chromosomal anomaly characterized clinically by mild to severe intellectual deficit, severe developmental delay (psychomotor and speech development), hypotonia with tendency to develop progressive hypertonia and severe orthopedic problems over time, minor facial anomalies and agenesis of the corpus callosum." "" + "distal trisomy 2q" "Distal trisomy 2q is a rare chromosomal anomaly, resulting from the partial duplication of the long arm of chromosome 2, characterized by moderate psychomotor delay, mild intellectual disability, facial dysmorphism (high hairline, prominent forehead, hypertelorism, upslanting palpebral fissures, large, low-set and/or posteriorly rotated ears, depressed/broad nasal bridge, prominent nasal tip, thin upper lip vermillion), clino-/camptodactyly and normal or increased body measurements. On occasion genital anomalies (hypospadias, cryptorchidism, shawl scrotum) and short stature may be observed." "" + "3q26 microduplication syndrome" "3q26 microduplication syndrome is a rare chromosomal anomaly characterized by prenatal and postnatal growth retardation, developmental delay, intellectual impairment, dysmorphic signs and variable combination of congenital anomalies, including cardiovascular, genitourinary and skeletal anomalies and spectrum of caudal malformations." "" + "distal trisomy 4q" "Distal trisomy 4q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 4, with highly variable phenotype typically characterized by psychomotor delay, intellectual disability, craniofacial dysmorphism (microcephaly, low-set, prominent ears, downslanting palpebral fissures, hypertelorism, epicanthic folds, broad, prominent nasal bridge, high arched and cleft palate, micro-/retrognathia), seizures, as well as tooth and digital anomalies (clinodactyly, polydactyly). Cardiac malformations, renal anomalies, cryptorchidism, hypotonia and hearing impairment have also been reported." "" + "distal trisomy 5q" "Distal trisomy 5q is a rare chromosomal anomaly syndrome, resulting from a partial duplication of the long arm of chromosome 5, characterized by short stature, moderate intellectual disability, and craniofacial dysmorphism (microcephaly, flat facies, large, low-set dysplastic ears, down-slanted, almond-shaped palpebral fissures, hypertelorism, epicanthal folds, small nose, long philtrum, small mouth with thin upper lip, and micrognathia). Patients also frequently present speech and cognitive delay, cardiac (ventriculomegaly, ventricular septum defect) and skeletal abnormalities (craniosynostosis, radial agenesis, ulnar hypoplasia, brachydactyly) and genital malformations (hypospadias, cryptorchidism)." "" + "distal trisomy 6q" "Distal trisomy 6q is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 6, with highly variable phenotype, typically characterized by growth and developmental delay, intellectual disability, craniofacial dysmorphism (microcephaly, flat facial profile, frontal bossing, hypertelorism, downward-slanting palpebral fissures, flat nasal bridge, anteverted nares, bow shaped mouth, micrognathia), short webbed neck and joint contractures. Cardiac, urogenital, ophthalmologic and hand and foot anomalies, as well as umbilical hernia, spasticity, and seizures, are other features that have been reported." "" + "distal trisomy 8q" "Distal trisomy 8q is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 8, with a highly variable phenotype, typically characterized by growth and developmental delay, intellectual disability, short stature, craniofacial dysmorphism (microcephaly, prominent forehead, hypertelorism, abnormal palpebral fissures, low-set, large ears, anteverted tip of nose, micro/retrognathia), congenital heart defects and skeletal and limb anomalies. Other reported features include ophthalmologic abnormalities (e.g. megalocornea), cryptorchidism, hypertrichosis, and neurologic manifestations (e.g. hypotonia, hearing loss, and seizures)." "" + "distal trisomy 9q" "Distal trisomy 9q is a rare chromosomal anomaly, resulting from the partial trisomy of the long arm of chromosome 9, with a variable phenotype mostly characterized by psychomotor and speech delay, intellectual disability, hypotonia, long narrow habitus, craniofacial dysmorphism (incl. micro/dolichocephaly, facial asymmetry, narrow palpebral fissures, deep-set eyes, strabismus, microphthalmia, abnormally shaped ears, microstomia, micro/retrognathia) and hand and feet anomalies (incl. arachnodactyly, camptodactyly, abnormal implantation of digits). Congenital flexion contractures and limited joint movements have also been observed." "" + "distal trisomy 10q" "Distal trisomy of the long arm of chromosome 10 (10q) is characterized by pre- and postnatal growth retardation, a pattern of specific facial features, hypotonia, and developmental and psychomotor delay." "" + "distal trisomy 11q" "Distal trisomy 11q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 11, with high phenotypic variability principally characterized by craniofacial dysmorphism (brachycephaly/plagiocephaly, low-set, posteriorly rotated ears, short philtrum, micrognathia) and intellectual disability. Short stature and seizures, as well as cardiac (e.g. atrial septal defect), skeletal (incl. brachy/syndactyly) and genital (e.g. micropenis, cryptorchidism) abnormalities may also be associated. Neurodevelopmental anomalies (pain insensitivity, sensorineural hearing loss, expressive language deficiency) and neuropsychiatric disorders (autistic features, auditory hallucination, self-talking) have also been reported." "" + "chromosome 11q trisomy" "" + "distal trisomy 13q" "Distal trisomy 13q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 13, with variable phenotype principally characterized by intellectual disability, psychomotor delay, craniofacial dysmorphism (incl. microcephaly, bushy eyebrows, long curled eyelashes, hypotelorism, low-set ears, prominent nasal bridge, long philtrum, high palate, thin upper lip), short neck, polydactyly, and hemangiomas. Cardiac, urogenital and neural tube defects, as well as umbilical and inguinal hernias, seizures and hypotonia, have also been reported." "" + "distal trisomy 16q" "Distal trisomy 16q is a rare chromosomal anomaly syndrome, resulting from the partial trisomy of the long arm of chromosome 16, with variable phenotype principally characterized by developmental delay, severe intellectual disability, hypotonia, facial dysmorphism (incl. high, prominent forehead, epicanthic folds, dysplastic ears, broad/depressed nasal bridge, malar hypoplasia, narrow and arched palate, thin upper lip vermilion, micrognathia) and hand/feet anomalies (e.g. arachnodactyly, talipes equinovarus). Cardiac defects, genitourinary malformations and vertebral anomalies are also associated. Thrombocytopenia and recurrent infections have also been reported." "" + "distal trisomy 20q" "Distal trisomy 20q is a rare chromosomal anomaly syndrome, resulting from the partial trisomy of the long arm of chromosome 20, with high phenotypic variability mostly characterized by neurodevelopmental delay, cardiac malformations (e.g. ventricular septal defect, coarctation of aorta) and facial dysmorphism (incl. large/high forehead, microphthalmia, upslanting palpebral fissures, epicanthus, large, long, low-set ears, anteverted nares, protruding upper lip, cleft lip/palate, micro/retrognathia, dimpled chin). Skeletal (brachydactyly, scoliosis, pectus excavatum) and cerebral anomalies have also been reported." "" + "distal trisomy 22q" "Distal trisomy 22q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 22, with variable phenotype principally characterized by varying degrees of intellectual disabilty and developmental delay, pre- and postnatal growth deficiency, hypotonia, and craniofacial dysmorphism (incl. microcephaly, hypertelorism, narrow and upslanted palpebral fissures, epicanthic folds, low-set dysplastic ears, broad and depressed nasal bridge, cleft lip an/or palate, long philtrum, retro/micrognathia). Congenital heart defects, as well as cerebral, skeletal, renal and genital anomalies, have also been reported." "" + "non-distal trisomy 9q" "Non-distal trisomy 9q is a rare chromosomal anomaly syndrome, resulting from the partial trisomy of the long arm of chromosome 9, with a highly variable phenotype principally characterized by developmental delay, short stature, intellectual disability, and craniofacial dysmorphism (e.g. microcephaly, broad forehead, low set ears, epicanthus, prominent nose, and retrognathia). Cardiac, ocular, thyroid and esophagus defects, as well as central nervous system and behavioral/psychiatric abnormalities, have also been reported." "" + "monosomy 22" "" + "distal monosomy 7p" "" + "distal monosomy 19p13.3" "Distal monosomy 19p13.3 is a rare chromosomal anomaly associated with a wide range of phenotypic features depending on the size of the deletion. It may present with intrauterine growth retardation, failure to thrive, global developmental delay, dysmorphic features (such as broad forehead, midface retrusion, broad nasal bridge, micrognathia, smooth philtrum, low-set, dysplastic ears), congenital anomalies (such as atrial septal defect, gastrointestinal anomalies, renal and urogenital malformations, agenesis of the corpus callosum) and other clinical features (such as hearing loss, visual impairment and immune dysregulation)." "" + "obsolete non-distal monosomy 7p" "" "true" + "distal monosomy 4q" "" + "Kleefstra syndrome due to 9q34 microdeletion" "" + "Kleefstra syndrome 1" "An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of EHMT1 on chromosome 9q34.3." "" + "distal monosomy 12q" "" + "distal monosomy 14q" "Distal monosomy 14q is a rare chromosomal anomaly associated with various phenotypic features depending on the size of the deletion. The clinical features may include global developmental delay, hypotonia, congenital heart defects, dysmorphic features (high forehead, small palpebral fissures, epicanthi, blepharophimosis, broad and flat nasal bridge, broad philtrum, thin upper lip, high arched palate, pointed chin, malformed ears). High-pitched, weak cry, seizures and various dental and oftalmological anomalies were also reported." "" + "distal monosomy 20q" "" + "non-distal monosomy 12q" "" + "non-distal monosomy 20q" "" + "monosomy 13q34" "Monosomy 13q34 is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 13, principally characterized by global developmental delay, mild intellectual disability, obesity and mild craniofacial dysmorphism (microcephaly, wide rectangular forehead, downslanting palpebral fissures, mild ptosis, prominent nose with long nasal bridge and broad tip, small chin). Other variable reported features include congenital heart defects, hand and foot anomalies (e.g. polydactyly) and agenesis of the corpus callosum." "" + "ring chromosome 2" "Ring chromosome 2 syndrome is a rare chromosomal anomaly syndrome with highly variable phenotype principally characterized by intrauterine growth retardation, failure to thrive, developmental delay, hypotonia, mild dysmorphic features (incl. microcephaly, short forehead, upslanting palpebral fissures, hypertelorism, epicanthal folds, wide nasal bridge, broad nasal tip, long philtrum, thin upper lip, micrognathia, short neck), skeletal anomalies (e.g. kyphosis, brachydactyly, clinodactyly, talipes equinovarus) and dermatological features (i.e. café-au-lait spots). Patients may also present ventriculoseptal defects and genital abnormalities (e.g. genital hypoplasia, phimosis, cryptorchidism)." "" + "ring chromosome 3" "Ring chromosome 3 syndrome is a rare chromosomal anomaly syndrome with a highly variable phenotype principally characterized by pre- and postnatal growth retardation, short stature, developmental delay, mild to severe intellectual disability, microcephaly and mild dysmorphic features (incl. triangular face, dysplastic ears, upslanting palpebral fissures, epicanthic folds, broad nasal bridge, full nasal tip, long philtrum, downturned corners of the mouth, and micro/retrognathia). Additional manifestations reported include hypotonia, mild articular limitation, hearing loss, digital anomalies (i.e. clinodacytyly, brachydactyly), café-au-lait patches and hypospadias." "" + "ring chromosome 9" "Ring chromosome 9 syndrome is an autosomal anomaly characterized by variable clinical features, most commonly including developmental delay, some degree of intellectual disability, facial dysmorphism, microcephaly, congenital heart anomalies, and variable genital, limb and skeletal anomalies." "" + "ring chromosome 11" "Ring chromosome 11 syndrome is an autosomal anomaly characterized by variable clinical features, including early growth retardation and short stature, microcephaly, developmental delay, some degree of intellectual disability, facial dysmorphism and café-au-lait spots. In some cases, congenital heart disease and endocrine abnormalities have been reported." "" + "ring chromosome 13" "Ring chromosome 13 is a chromosomal anomaly of chromosome 13 characterized by a widely variable phenotype (ranging from mild to severe) principally characterized by intrauterine growth retardation, developmental delay, short stature, moderate to severe intellectual deficit, microcephaly, facial dysmorphism (i.e. upslanting palpebral fissures, hypertelorism, abnormal ears, broad nasal bridge, high arched palate, micrognathia, small mouth, and thin lips), hands and feet anomalies, and genital abnormalities. Additional features reported include behavioral problems, hearing and speech disorders, congenital heart defects, cerebral malformations, and anal atresia." "" + "ring chromosome 15" "Ring chromosome 15 is a chromosome abnormality that affects growth, learning, and speech. People with ring chromosome 15 often have growth delays before and after birth, resulting in short stature; varying degrees of intellectual disability ; low muscle tone (hypotonia); craniofacial malformations; and limb abnormalities. Other symptoms might include congenital heart defects, kidney problems, congenital dislocation of the hips, and cafe-au-lait spots. Ring chromosome 15 is caused by an abnormal chromosome known as a ring chromosome 15 or r(15). A ring chromosome is a circular structure that occurs when a chromosome breaks in two places and the broken ends fuse together. The features of ring chromosome 15 appear to result from the loss (deletion) of genetic material from the long (q) arm of chromosome 15. Ring chromosome 15 is usually caused by spontaneous (de novo) errors very early in embryonic development. In rare cases, it is passed through families, either from a parent who also has a ring chromosome 15, or from a parent who has a balanced translocation. Treatment for ring chromosome 15 is focused on addressing the symptoms present in each individual and may require a team of medical specialists." "" + "ring chromosome 16" "Ring chromosome 16 is characterized bypostnatal growthdeficiency, intellectual disability, microcephaly, broad flat nasal bridge, down-turned mouth, low-set and dysmorphic (abnormally-shaped) ears and speech delay.To date, less than 10 cases have been reported in the medical literature." "" + "maternal uniparental disomy of chromosome 2" "Maternal uniparental disomy of chromosome 2 is an uniparental disomy of maternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier." "" + "maternal uniparental disomy of chromosome 4" "Maternal uniparental disomy of chromosome 4 is an uniparental disomy of maternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier." "" + "maternal uniparental disomy of chromosome 6" "Maternal uniparental disomy of chromosome 6 is an uniparental disomy of maternal origin characterized by intrauterine growth retardation. Homozygosity for a recessive disease mutation for which only a mother is a carrier may lead to other phenotypes." "" + "silver-Russell syndrome due to maternal uniparental disomy of chromosome 7" "Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 is a genetic malformation syndrome with short stature characterized by severe prenatal and postnatal growth retardation, feeding difficulties, body asymmetry, dysmorphic craniofacial features (triangular-shaped face, relative macrocephaly, frontal bossing, micrognathia, down-turned corners of the mouth) and other anomalies (fifth finger clinodactyly, café au lait macules, male genital anomalies, mild developmental delay and/or speech delay with movement disorders)." "" + "maternal uniparental disomy of chromosome 9" "Maternal uniparental disomy of chromosome 9 is an uniparental disomy of maternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier." "" + "maternal uniparental disomy of chromosome 14" "Maternal uniparental disomy of chromosome 14 is a rare chromosomal anomaly characterized by prenatal and postnatal growth retardation, hypotonia, motor delay, early puberty, obesity, short adult stature, small hands and feet, mild intellectual disability, and mild dysmorphic facial features (frontal bossing, short nose with wide nasal tip, micrognathia, high palate, short philtrum)." "" + "maternal uniparental disomy of chromosome 16" "" + "maternal uniparental disomy of chromosome 20" "Maternal uniparental disomy of chromosome 20 (UPD 20) is a very rare chromosomal anomaly in which both copies of chromosome 20 are inherited from the mother. The main feature described is prenatal and postnatal growth retardation. Microcephaly, minor dysmorphic features and psychomotor developmental delay have been occasionally reported. Maternal UPD20 is most often ascertained by a mosaic trisomy 20 pregnancy." "" + "maternal uniparental disomy of chromosome 21" "" + "maternal uniparental disomy of chromosome 22" "" + "paternal uniparental disomy of chromosome 5" "Paternal uniparental disomy of chromosome 5 is an uniparental disomy of paternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier." "" + "paternal uniparental disomy of chromosome 6" "Paternal uniparental disomy of chromosome 6 is an uniparental disomy of paternal origin characterized by intrauterine growth retardation, transient neonatal diabetes mellitus, and macroglossia." "" + "paternal uniparental disomy of chromosome 7" "Paternal uniparental disomy of chromosome 7 is an uniparental disomy of paternal origin that most likely do not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier (e.g., cystic fibrosis, congenital chloride diarrhea, sensorineural hearing loss)." "" + "Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11" "" + "paternal uniparental disomy of chromosome 20" "Paternal uniparental disomy of chromosome 20 is a very rare chromosomal anomaly in which both copies of chromosome 20 are inherited from the father. The main features described are high birth weight and/or early-onset obesity, relative macrocephaly, and tall stature. Most patients were ascertained during sporadic pseudohypoparathyroidism type 1b testing and have UPD involving variable segments of the long arm of chromosome 20." "" + "paternal uniparental disomy of chromosome 21" "Paternal uniparental disomy of chromosome 21 is an uniparental disomy of paternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier." "" + "X small rings" "X small rings is a rare chromosome X structural anomaly, with highly variable phenotype, principally characterized by developmental delay, intellectual disability, short stature, craniofacial dysmorphism (incl. microcephaly, facial asymmetry, hypertelorism, long palpebral fissures, epicanthus, low-set or malrotated ears, broad nose with a flat nasal bridge, anteverted nares, long philtrum, thin upper lip, high arched palate, micrognathia) and skeletal anomalies (e.g. cubitus valgus, talipes equinovarus). Patients may also present heart malformations (e.g. ventricular septal defects, mitral valve stenosis), sacral dimple, soft tissue syndactyly, pigmented nevi, and seizures." "" + "48,XXXY syndrome" "The 48,XXXY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of two extra X chromosomes in males." "" + "49,XXXXY syndrome" "The 49,XXXXY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of three extra X chromosomes in males." "" + "Leydig cell hypoplasia due to complete LH resistance" "" + "Leydig cell hypoplasia due to partial LH resistance" "" + "isolated partial vaginal agenesis" "Isolated partial vaginal agenesis is a rare, non-syndromic urogenital tract malformation characterized by the absence of a vagina or the presence of a vaginal dimple shorter than 5 cm. It is often associated with uterine agenesis, hematocolpos or primary amenorrhea and dyspareunia. Ovaries and fallopian tubes are normal." "" + "isochromosome Y" "" + "obsolete rare otorhinolaryngological malformation" "True" "true" + "obsolete rare gynecologic or obstetric disease" "True" "true" + "early-onset schizophrenia" "" + "hypertrichosis-acromegaloid facial appearance syndrome" "Hypertrichosis-acromegaloid facial appearance syndrome (HAFF) is a very rare multiple congenital abnormality syndrome manifesting from birth with progressive hypertrichosis congenita terminalis (thick scalp hair extending onto the forehead with generalized increased body hair) associated with a typical acromegaloid facial appearance (thick eyebrows, prominent supraorbital ridges, broad nasal bridge, anteverted nares, long and large philtrum, and prominent mouth with full lips) appearing during childhood. HAFF seems to belong to a spectrum of phenotypes with the clinically overlapping acromegaloid facial appearance syndrome and hypertrichotic osteochondrodysplasia, CantC9 type." "" + "hereditary continuous muscle fiber activity" "Hereditary continuous muscle fiber activity is a rare, non-dystrophic myopathy characterized by generalized myokymia and increased muscle tone associated with delayed motor milestones, leg stiffness, spastic gait, hyperreflexia and Babinski sign. Symptoms may be worsened by febrile illness or anesthesia." "" + "Eisenmenger syndrome" "Eisenmenger syndrome (ES) is an form of pulmonary arterial hypertension (PAH) associated with unoperated congenital heart disease and is characterized by congenital heart malformations with reversed or bi-directional shunting through an intra-cardiac or intervascular (usually aorto-pulmonary) communication with the development of PAH." "" + "solar urticaria" "Solar urticaria (SU) is a rare and difficult to treat photosensitive disease, in which local skin swelling occurs within minutes of exposure to natural sunlight or even artificial light sources emitting ultraviolet radiation." "" + "ligneous conjunctivitis" "Ligneous conjunctivitis (LC) is a rare form of chronic conjunctivitis characterised by the recurrent formation of pseudomembranous lesions most commonly on the palpebral surfaces. It is most frequently reported as a clinical manifestation of severe homozygous or compound-heterozygous hypoplasminogenemia." "" + "rippling muscle disease 2" "An autosomal dominant condition caused by mutation(s) in the CAV3 gene, encoding caveolin-3. It is characterized by mechanically triggered contractions of skeletal muscles. Limb-girdle muscular dystrophy type 1C is an allelic disorder with an overlapping phenotype." "" + "zebra body myopathy" "" + "mega-cisterna magna" "" + "GRFoma" "6cm and approximately 1/3 have metastasized at the time of diagnosis. It often co-occurs with Zollinger-Ellison syndrome or multiple endocrine neoplasia type 1 (MEN 1)." "" + "PPoma" "PPoma is a type of pancreatic endocrine tumor that hypersecretes pancreatic polypeptide (PP) but that does not cause a hypersecretion syndrome (is non-functioning) and instead presents with only non-specific symptoms such as weight loss, abdominal pain, jaundice, diarrhea and/or an abdominal mass, hence leading to a late diagnosis. PPoma can be associated with multiple endocrine neoplasia 1 (MEN-1)." "" + "obsolete insulinoma" "" "true" + "glucagonoma" "Glucagonoma is a rare, functioning type of pancreatic neuroendocrine tumor (PNET) that hypersecretes glucagon, leading to a syndrome comprised of necrolytic migratory erythema, diabetes mellitus, anemia, weight loss, mucosal abnormalities, thromboembolism, gastrointestinal and neuropsychiatric symptoms." "" + "obsolete somatostatinoma" "" "true" + "bronchial endocrine tumor" "A neuroendocrine neoplasm that involves the bronchus." "" + "thymic neuroendocrine tumor" "Thymic endocrine tumor is a rare, malignant, primary thymic neoplasm originating from neuroendocrine cells, presenting as a mass within the anterior mediastinum. Patients typically present with nonspecific symptoms, such as chest pain, cough, shortness of breath, or in some cases, superior vena cava syndrome, although patients could be asymptomatic during the early stages or present with multiple endocrine neoplasia type I. Ectopic production of ACTH and serotonin can lead to Cushing syndrome and carcinoid sydrome, respectively." "" + "obsolete rare benign ovarian tumor" "Any of the forms of ovarian benign neoplasm that have a rare incidence." "True" "true" + "obsolete thoracic outlet syndrome" "" "true" + "Kienbock disease" "Kienbock disease is a rare bone disorder of unknown etiology characterized clinically by osteonecrosis of the carpal lunate, eventually leading to collapse of the lunate bone impacting wrist function." "" + "obsolete Osgood-Schlatter disease" "" "true" + "panner disease" "Panner's disease is an osteochondrosis of the capitellum of the humerus, characterised by involvement of the dominant upper limb and onset before the age of 10 years. It results from lateral compression injuries of the elbow typically occurring in children practising sports such as baseball and throw. It should be distinguished from osteochondritis dissecans of the capitellum, occurring later, in adolescents. Management is symptomatic and consists in reducing the activities of the affected elbow for a prolonged period of time. Prognosis is good." "" + "Sinding-Larsen-Johansson disease" "Sinding-Larsen-Johansson disease is a type of osteochondrosis affecting the attachment of the patellar tendon to the patella and characterised by tenderness and localized swelling of the patella." "" + "melanoma of soft tissue" "" + "dural sinus malformation" "" + "persistent placoid maculopathy" "Persistent placoid maculopathy is characterised by white plaque-like lesions involving the macula but sparing the peripapillary areas of both eyes. It has been described in five patients. In contrast to patients with macular serpiginous choroiditis presenting with similar lesions, the five patients reported so far with persistent placoid maculopathy had good visual acuity until the onset of choroidal neovascularization (CNV) or pigmentary mottling. The macular lesions fade after several months or years, but the vascular anomalies persist leading to a loss of central vision." "" + "obsolete postencephalitic parkinsonism" "" "true" + "pellagra" "Pellagra is a nutritional disorder caused by a deficiency in niacin (vitamin B3) or its precursor (tryptophan) that is mainly observed in Asia and Africa where it is generally due to poor nutrition. It is characterized by dermatitis (symmetrical photodistributed erythema that may be accompanied by vesicles and bullae, and that develops into hyperkeratotic and hyperpigmented skin), gastrointestinal symptoms (diarrhea), and neuropsychiatric disorders (dementia). It can be life-threatening without a correct management." "" + "dementia pugilistica" "Conditions characterized by persistent brain damage or dysfunction as sequelae of cranial trauma. This disorder may result from diffuse axonal injury; intracranial hemorrhages; brain edema; and other conditions. Clinical features may include dementia; focal neurologic deficits; persistent vegetative state; akinetic mutism; or coma." "" + "parkinsonism with dementia of Guadeloupe" "Parkinsonism with dementia of Guadeloupe is characterised by symmetrical bradykinesia, predominantly axial rigidity, postural instability with early falls and cognitive decline with prominent features of frontal lobe dysfunction." "" + "renal hypoplasia, unilateral" "Unilateral renal hypoplasia is a form of renal hypoplasia, a renal developmental anomaly in which one kidney is small and has a deficit in the number of nephrons present." "" + "renal hypoplasia, bilateral" "Bilateral renal hypoplasia is a form of renal hypoplasia, a renal developmental anomaly in which both kidneys are small and have a deficit in the number of nephrons present." "" + "unilateral multicystic dysplastic kidney" "Unilateral multicystic dysplastic kidney is the form of multicystic dysplastic kidney (MCDK), a congenital anomaly of the kidney and urinary tract (CAKUT), in which one kidney is large, distended by multiple cysts, and non-functional." "" + "bilateral multicystic dysplastic kidney" "Bilateral multicystic dysplastic kidney (MCDK) is a lethal form of multicystic dysplastic kidney (MCDK), a congenital anomaly of the kidney and urinary tract (CAKUT), in which both kidneys are large, distended by non-communicating multiple cysts and non-functional." "" + "multiloculated renal cyst" "" + "renal tubular dysgenesis due to twin-twin transfusion" "'Renal tubular dysgenesis due to twin-twin transfusion syndrome (TTTS) is an acquired form of renal tubular dysgenesis that develops in donor fetuses due to the uneven shunting of growth factor and nutrients to the kidney of the recipient and is characterized by absent or poorly developed proximal tubules, persistent oligohydramnios and consequently the Potter sequence (facial dysmorphism with large and flat low-set ears, lung hypoplasia, arthrogryposis and limb positioning defects).'" "" + "drug-related renal tubular dysgenesis" "" + "sporadic idiopathic steroid-resistant nephrotic syndrome with collapsing glomerulopathy" "" + "obsolete congenital and infantile nephrotic syndrome" "" "true" + "pauci-immune glomerulonephritis with ANCA" "Pauci-immune glomerulonephritis (GN) with antineutrophil cytoplasmic antibodies (ANCA) is a form of rapidly progressive GN comprising about 90% of pauci-immune glomerulonephritis, and associated with the presence of circulating ANCA (mostly directed against proteinase-3 (PR3) and myeloperoxidase (MPO)). Patients usually present with hematuria and rapidly declining renal function, often leading to dialysis within weeks without treatment. Cutaneous, pulmonary, musculoskeletal and nervous involvement may be observed in case of systemic disease, and the correlation between ANCA titer and disease activity has been demonstrated." "" + "pauci-immune glomerulonephritis without ANCA" "Pauci-immune glomerulonephritis (GN) without antineutrophilic cytoplasmic antibodies (ANCA) is a form of rapidly progressive glomerulonephritis comprising 10-43% of pauci-immune glomerulonephritis and characterized by the absence of ANCA. In comparison with pauci-immune GN with ANCA, patients lacking ANCA may be younger at onset of the disease and have a shorter interval from onset of the disease to diagnosis. They have fewer extra renal manifestations (e.g. involvement of lung, eye, ear, nose and throat), fewer constitutional symptoms (e.g. fever, weight loss, muscle pain and arthralgia) and a high prevalence of nephrotic syndrome and chronic renal lesions. Their prognosis is generally poorer." "" + "non-amyloid fibrillary glomerulopathy" "Non-amyloid fibrillary glomerulopathy (non-amyloid FGP) is a rare cause of glomerulonephritis (GN) characterized by glomerular accumulation of non-amyloid fibrils in the mesangium and the glomerular (and rarely tubular) basement membrane, that mainly presents with renal insufficiency, micro-hematuria and nephrotic range proteinuria. Non-amyloid FGP and immunotactoid glomerulopathy (ITG) are often grouped together as pathogenetically related diseases." "" + "immunotactoid glomerulopathy" "Immunotactoid glomerulopathy (ITG) is a very rare condition characterized by glomerular accumulation of microtubules in the mesangium and the glomerular basement membrane, that mainly presents with proteinuria, micro-hematuria, nephrotic syndrome, renal insufficiency and hematologic malignancy. ITG and non-amyloid fibrillary glomerulopathy (non-amyloid FGP) are often grouped together as pathogenetically related diseases." "" + "congenital renal artery stenosis" "A narrowing of renal arteries that is present since birth." "" + "maternal uniparental disomy of chromosome 13" "Maternal uniparental disomy of chromosome 13 is an uniparental disomy of maternal origin that most likely do not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier." "" + "obsolete rare cardiac disease" "Rare heart disease." "True" "true" + "obsolete rare gastroenterologic disease" "True" "true" + "obsolete rare respiratory disease" "Rare respiratory system disease." "True" "true" + "obsolete rare surgical thoracic disease" "True" "true" + "obsolete rare surgical cardiac disease" "True" "true" + "obsolete rare eye disease" "Rare eye disease." "True" "true" + "obsolete rare endocrine disease" "Rare endocrine system disease." "True" "true" + "obsolete rare hematologic disease" "" "true" + "absence of the pulmonary artery" "Unilateral absence of the pulmonary artery (UAPA) is a rare congenital great vessels anomaly that commonly presents by dyspnea, frequent respiratory infections, hemoptysis and high-altitude pulmonary edema. UAPA is often associated with congenital heart malformation (CHM). In the absence of associated cardiac malformation (isolated UAPA; IUAPA), the condition may be asymptomatic until adult age." "" + "obsolete rare immune disease" "Rare immune system disease." "True" "true" + "obsolete rare neurologic disease" "Rare nervous system disease." "True" "true" + "obsolete rare headache disorder" "Rare headache disorder." "True" "true" + "obsolete systemic or rheumatic disease" "" "true" + "obsolete rare odontologic disease" "True" "true" + "obsolete rare disease with odontological manifestation" "True" "true" + "obsolete rare neurologic disease with psychiatric involvement" "True" "true" + "obsolete rare otorhinolaryngologic disease" "Any of the forms of otorhinolaryngologic disease that have a rare incidence." "True" "true" + "obsolete rare infertility" "Rare infertility." "True" "true" + "obsolete rare male infertility" "Rare male infertility." "True" "true" + "obsolete rare female infertility" "Rare female infertility." "True" "true" + "obsolete rare allergic disease" "Rare allergic hypersensitivity disease." "True" "true" + "obsolete rare allergic respiratory disease" "Rare respiratory allergy." "True" "true" + "obsolete rare genetic cardiac disease" "Rare genetic heart disease." "True" "true" + "obsolete rare genetic renal disease" "True" "true" + "obsolete rare tumor" "Rare disease of cellular proliferation." "True" "true" + "obsolete rare urinary tract tumor" "Rare urinary system benign neoplasm." "True" "true" + "obsolete rare digestive tumor" "Any of the forms of digestive system neoplasm that have a rare incidence." "True" "true" + "obsolete rare respiratory tract neoplasm" "Any of the forms of respiratory tract neoplasm that have a rare incidence." "True" "true" + "obsolete rare nervous system tumor" "Rare nervous system cancer." "True" "true" + "obsolete rare gynecological tumor" "Rare female reproductive system neoplasm." "True" "true" + "obsolete gonadal dysgenesis of gynecological interest" "" "true" + "autosomal recessive cerebellar ataxia due to a DNA repair defect" "True" + "internal carotid agenesis" "Internal carotid artery (ICA) agenesis (uni or bilateral) is a developmental defect that may be asymptomatic or lead to cerebrovascular lesions. It is a rare malformation, with only around hundred cases reported in the literature. When symptoms are present, they are caused by cerebrovascular insufficiency, compression of the brain by vessels that dilate to compensate for the absence of the ICA, or the presence of an aneurysm. Associated intracranial aneurysms occur in 25 to 35% of patients and are often responsible for intracranial hemorrhage, which may present as the initial symptom. The absence of the ICA is the result of either agenesis or aplasia. The term agenesis is used when both the ICA and its bony canal are absent, whereas there is some evidence of carotid canals in cases of aplasia. The absence of the ICA can be detected by angiography or by computerised tomography." "" + "autosomal trisomy" "A chromosomal abnormality consisting of the presence of one chromosome in addition to the normal diploid number." "True" + "gonosome anomaly" "" + "gonosome structural anomaly" "True" + "myelodysplastic/myeloproliferative disease" "Clonal myeloid disorders that possess both dysplastic and proliferative features but are not properly classified as either MYELODYSPLASTIC SYNDROMES or MYELOPROLIFERATIVE disorderS." "" + "acute myeloid leukemia with recurrent genetic anomaly" "A group of acute myeloid leukemias characterized by recurrent genetic abnormalities, mainly balanced translocations. (WHO, 2001)" "True" + "obsolete plasma cell tumor" "" "true" + "obsolete histiocytic and dendritic cell tumor" "" "true" + "lymphoproliferative disease associated with primary immune disease" "" + "obsolete mastocytosis" "" "true" + "obsolete idiopathic interstitial pneumonia" "" "true" + "obsolete rare idiopathic male infertility" "" "true" + "obsolete autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature" "Autosomal dominant form of disease with diffuse palmoplantar keratoderma as a major feature." "True" "true" + "obsolete autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature" "Autosomal dominant form of disease with focal palmoplantar keratoderma as a major feature." "True" "true" + "obsolete autosomal recessive disease with focal palmoplantar keratoderma as a major feature" "Autosomal recessive form of disease with focal palmoplantar keratoderma as a major feature." "True" "true" + "obsolete rare hemolytic anemia" "Rare hemolytic anemia." "True" "true" + "obsolete rare constitutional hemolytic anemia due to an enzyme disorder" "True" "true" + "hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies" "True" + "non-autoimmune hemolytic anemia" "Hemolytic anemia that is not mediated by immune mechanisms." "" + "pulmonary agenesis" "An uncommon congenital abnormality characterized by either lethal complete absence of the lungs or varying degrees of underdevelopment of the lung parenchyma. It may be associated with other congenital abnormalities." "" + "obsolete polycythemia" "" "true" + "obsolete rare blood coagulation disease" "Any of the forms of blood coagulation disease that have a rare incidence." "True" "true" + "idiopathic inflammatory myopathy" "Idiopathic form of inflammatory myopathy." "" + "synaptopathy" "A disease caused by dysfunction of synapses." "" + "obsolete rare peripheral neuropathy" "Rare peripheral neuropathy." "True" "true" + "obsolete neurodegenerative disease with dementia" "" "true" + "obsolete early-onset ataxia with dementia" "" "true" + "obsolete late-onset ataxia with dementia" "" "true" + "obsolete rare eye disease due to a differentiation anomaly" "True" "true" + "obsolete obsolete rare palpebral, lacrimal system and conjunctival disease" "" "true" + "obsolete rare palpebral disease" "Any of the forms of eyelid disease that have a rare incidence." "" "true" + "obsolete rare eyelid malformation" "True" "true" + "epicanthal fold" "" + "obsolete telecanthus" "" "true" + "obsolete kinetic eyelid anomaly" "" "true" + "obsolete congenital upper palpebral retraction" "" "true" + "obsolete palpebral tumor" "" "true" + "palpebral epidermal tumor" "A neoplasm (disease) that involves the skin of eyelid." "" + "lentigo" "A flat, benign, pigmented spot on the skin caused by excessive deposition of melanin from an increased number of melanocytes in the cell layer directly above the basement membrane of the epidermis. Formation is usually related to sun exposure during youth, and the lesions do not typically progress to malignancy." "" + "neurogenic palpebral tumor" "" + "obsolete rare eyebrow/eyelashes anomaly" "" "true" + "obsolete eyelashes hypertrophy" "" "true" + "obsolete rare lacrimal system disease" "Any of the forms of lacrimal apparatus disease that have a rare incidence." "True" "true" + "secretory apparatus of the lacrimal system anomaly" "" + "anomaly of the secretory and excretory apparatus of the lacrimal system" "" + "obsolete rare conjunctival disease" "Rare conjunctival disease." "" "true" + "obsolete conjunctival vascular anomaly" "" "true" + "obsolete conjunctival hemangioma or hemolymphangioma" "" "true" + "obsolete conjunctival telangiectasia" "" "true" + "obsolete conjunctival lymphangiectasia" "" "true" + "obsolete rare refraction anomaly" "True" "true" + "obsolete rare isolated myopia" "Rare isolated myopia is a rare, genetic, refraction anomaly disorder characterized by non-syndromic severe myopia, which may be associated with cataract and vitreoretinal degeneration (retinal detachment) that may lead to blindness." "True" "true" + "obsolete rare hyperopia and astigmatism" "True" "true" + "secondary dysgenetic glaucoma associated with neural crest cell migration anomaly" "True" + "obsolete rare disease with glaucoma as a major feature" "True" "true" + "obsolete lens and zonula anomaly" "True" "true" + "obsolete rare cataract" "Rare cataract." "True" "true" + "obsolete systemic disease with cataract" "" "true" + "obsolete color-vision disease" "" "true" + "obsolete unclassified familial retinal dystrophy" "" "true" + "obsolete colobomatous and areolar dystrophy" "" "true" + "obsolete rare strabismus and restriction syndrome" "True" "true" + "essential strabismus" "" + "obsolete craniostenosis associated with a strabismus" "" "true" + "obsolete oculomotor palsy" "" "true" + "obsolete oculomotor apraxia or related oculomotor disease" "" "true" + "obsolete neurological disease with abnormal eye movements" "" "true" + "obsolete nervous system anomaly with eye involvement" "" "true" + "obsolete spinocerebellar ataxia with oculomotor anomaly" "" "true" + "obsolete spinocerebellar degenerescence and spastic paraparesis with an oculomotor anomaly" "" "true" + "mitochondrial disease with eye involvement" "True" + "metabolic disease associated with ocular features" "True" + "obsolete ichthyosis associated with ocular features" "" "true" + "obsolete syndromic ichthyosis associated with ocular features" "A ichthyosis associated with ocular features that is part of a larger syndrome." "" "true" + "pigmentation disorder with eye involvement" "True" + "obsolete phakomatosis with eye involvement" "" "true" + "obsolete connective tissue disease with eye involvement" "" "true" + "obsolete ectodermal malformation syndrome associated with ocular features" "" "true" + "Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15" "" + "obsolete spinocerebellar ataxia type 15/16" "" "true" + "Angelman syndrome due to maternal 15q11q13 deletion" "" + "Angelman syndrome due to paternal uniparental disomy of chromosome 15" "" + "isochromosomy Yp" "Isochromosomy Yp is a rare gonosome anomaly characterized by various clinical presentations including normal healthy fertile males, male phenotype with infertility, and males with ambiguous genitalia or incomplete masculinization." "" + "isochromosomy Yq" "Isochromosomy Yq is a rare gonosomy anomaly with a variable phenotype including a female phenotype with sexual development delay, streak gonads, short stature and Turner syndrome features and male phenotype with infertility due to azoospermia." "" + "absent tibia-polydactyly syndrome" "Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome is a rare, genetic dysostosis syndrome, with marked inter- and intra-familial variation, typically characterized by triphalangeal thumbs, hand and/or foot polysyndactyly and/or absent/hypoplastic tibiae (associated with duplication of fibulae in some cases), although isolated triphalangeal thumbs have also been reported. It is often accompanied with remarkable short stature and additional features may include radio-ulnar synostosis and hand oligodactyly, as well as abnormal carpal and metatarsal bones." "" + "benign childhood occipital epilepsy, Panayiotopoulos type" "Benign childhood occipital epilepsy, Panayiotopoulos type is a rare, genetic neurological disorder characterized by late infancy to early-adolescence onset of prolonged, nocturnal seizures which begin with autonomic features (e.g. vomiting, pallor, sweating) and associate tonic eye deviation, impairment of consciousness and may evolve to a hemi-clonic or generalized convulsion. Autonomic status epilepticus may be the only clinical event in some cases." "" + "benign childhood occipital epilepsy, Gastaut type" "Benign childhood occipital epilepsy, Gastaut type is a rare, genetic neurological disorder characterized by childhood to mid-adolescence onset of frequent, brief, diurnal simple partial seizures which usually begin with visual hallucinations (e.g. phosphenes) and/or ictal blindness and may associate non visual seizures (such as deviation of the eyes, oculoclonic seizures), forced eyelid closure and blinking and sensory hallucinations. Post-ictal headache is common while impairment of consciousness is rare." "" + "obsolete Landau-Kleffner syndrome" "" "true" + "atypical chronic myeloid leukemia" "" + "obsolete unclassified myelodysplastic/myeloproliferative disease" "" "true" + "obsolete refractory anemia" "" "true" + "obsolete unclassified myelodysplastic syndrome" "Unclassified myelodysplastic syndrome (MDS-U) is a subtype of myelodysplastic syndrome (MDS) with atypical features of uncertain clinical significance." "" "true" + "acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)" "Acute myelomonocytic leukemia (AMML) is a cancer that typically develops in the bone marrow and blood of older individuals.AMML is one type of acute myeloid leukemia, a group of blood cancers that occur when the amount of white blood cells increases rapidly. Symptoms of AMML often include fatigue (due to anemia) or easy bruising or bleeding (due to thrombocytopenia). The cause of AMML is currently unknown. Treatment typically consists of chemotherapy." "" + "acute myeloid leukemia with 11q23 abnormalities" "An acute myeloid leukemia associated with t(9;11)(p22.3;q23.3) and MLLT3-KMT2A fusion protein expression. Morphologically it usually has monocytic features. It may present at any age but it is more commonly seen in children. Patients may present with disseminated intravascular coagulation." "" + "" "true" + "obsolete acute myeloblastic leukemia without maturation" "" "true" + "acute myeloblastic leukemia with maturation" "An acute myeloid leukemia (AML) characterized by blasts with evidence of maturation to more mature neutrophils. (WHO, 2001)" "" + "acute undifferentiated leukemia" "A rare acute leukemia of ambiguous lineage in which the blasts do not express markers specific to myeloid or lymphoid lineage." "" + "acute biphenotypic leukemia" "An acute leukemia of ambiguous lineage characterized by blasts which coexpress myeloid and T or B lineage antigens or concurrent B and T lineage antigens. (WHO, 2001)" "" + "mixed phenotype acute leukemia" "An acute leukemia of ambiguous lineage. It is characterized by the presence of either separate populations of blasts of more than one lineage, or one population of blasts co-expressing markers of more than one lineage." "" + "primary mediastinal large B-cell lymphoma" "A large B-cell non-Hodgkin lymphoma arising in the mediastinum. Morphologically it is characterized by a massive diffuse lymphocytic proliferation associated with compartmentalizing fibrosis. Response to intensive chemotherapy, with or without radiotherapy, is usually good. (WHO, 2001)" "" + "intravascular large B-cell lymphoma" "Intravascular large B-cell lymphoma (IVLBCL) is a very rare form of diffuse large B-cell lymphoma characterized by the selective growth of lymphoma cells within the lumina of small blood vessels (especially the capillaries) that most often presents with a wide range of clinical manifestations (as potentially any tissue can be involved), with patients from Western countries more frequently manifesting with neurological and cutaneous symptoms while patients from Asian countries more frequently displaying hepatosplenomegaly and thrombocytopenia. IVLBCL is characterized by an absence of lymphadenopathy, an aggressive clinical course and a poor prognosis." "" + "lymphomatoid papulosis" "Lymphomatoid papulosis (LyP) is a rare cutaneous condition characterized by chronic, recurrent, and self-regressing papulonodular skin eruptions. It belongs to the spectrum of primary cutaneous CD30+ lymphoproliferative disorders, along with primary cutaneous anaplastic large cell lymphoma (primary C-ALCL) with which it shares overlapping clinical and histopathologic features." "" + "classic Hodgkin lymphoma, nodular sclerosis type" "" + "obsolete classic Hodgkin lymphoma, mixed cellularity type" "" "true" + "obsolete classic Hodgkin lymphoma, lymphocyte-rich type" "" "true" + "obsolete classic Hodgkin lymphoma, lymphocyte-depleted type" "" "true" + "systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease" "Systemic mastocytosis with an associated clonal hematological non-mast cell lineage disease is a form of systemic mastocytosis (SM) associated with malignancy (other than mast cell leukemia)." "" + "mast cell leukemia" "Mast cell leukemia is a malignant form of systemic mastocytosis (SM) characterized, most of the time, by the presence of circulating mast cells." "" + "obsolete desquamative interstitial pneumonia" "" "true" + "adult pure red cell aplasia" "Adult pure red cell aplasia is a rare acquired aplastic anemia characterized by a severe normocytic anemia with normal peripheral leukocyte and platelet counts, reticulocytopenia, high serum ferritin and transferrin saturation levels and isolated, almost complete absence of erythroblasts in the bone marrow with normal granulopoesis and megakaryopoesis. It presents with signs of severe anemia (fatigue, lethargy, pallor, intolerance of physical exercise and exertional dyspnea) in the absence of hemorrhagic symptoms." "" + "congenital myopathy with excess of thin filaments" "" + "acute inflammatory demyelinating polyradiculoneuropathy" "An inflammatory neuropathy belonging to the clinical spectrum of Guillain-Barre syndrome (GBS)." "" + "acute motor and sensory axonal neuropathy" "Acute motor-sensory axonal neuropathy (AMSAN) is a motor-sensory, axonal form of Guillain-BarrC) syndrome (GBS)." "" + "acute motor axonal neuropathy" "Acute motor axonal neuropathy (AMAN) is a pure motor axonal form of Guillain-BarrC) syndrome (GBS)." "" + "obsolete Miller-Fisher syndrome" "" "true" + "Blake pouch cyst" "Blake pouch cyst is a non-syndromic, usually benign, cystic malformation of the posterior fossa characterized by a midline outpouching of the superior medullary velum into the cisterna magna that results from failure of the rudimental fourth ventricular tela choroidea to regress during embryogenesis. Patients can be asymptomatic or present in childhood or adulthood with clinical manifestations of hydrocephalus, such as headache, hypotonia, vertigo, syncope, vomiting, blurred or double vision, nystagmus, papilledema, and delayed gait development." "" + "multiple system atrophy, parkinsonian type" "Multiple system atrophy, parkinsonian type (MSA-p) is a form of multiple system atrophy (MSA) with predominant parkinsonian features (bradykinesia, rigidity, irregular jerky postural tremor, and postural instability)." "" + "von Hippel anomaly" "" + "coloboma of choroid and retina" "Coloboma of choroid and retina is a rare, genetic developmental defect during embryogenesis characterized by the partial absence of retinal pigment epithelium and choroid, most frequently located in the inferonasal quadrant. Patients usually present reduced vision and have an increased risk for retinal detachment. Other ocular anomalies (e.g. coloboma of iris, microcornea, nystagmus, strabismus, microphthalmos) are usually associated, however it may also be isolated." "" + "coloboma of eye lens" "" + "coloboma of iris" "A congenital or acquired defect characterized by the presence of a hole in or adjacent to the iris." "" + "coloboma of eyelid" "A congenital abnormality in which a part of the upper or lower eyelid tissue is missing." "" + "coloboma of optic disc" "Coloboma of optic disc is a rare, genetic, developmental defect of the eye characterized by a unilateral or bilateral, sharply demarcated, bowl-shaped, glistening white excavation on the optic disc (typically decentered inferiorly) which usually manifests with varying degrees of reduced visual acuity. It can occur isolated or may associate other ocular (e.g. retinal detachment, retinoschisis-like separation) or systemic anomalies (e.g. renal)." "" + "congenital symblepharon" "" + "complete cryptophthalmia" "" + "partial cryptophthalmia" "" + "inverse Marcus-Gunn phenomenon" "Inverse Marcus-Gunn phenomenon is a rare congenital synkinesis where jaw opening by the pterygoid muscle (during eating or yawning) causes eyelid drooping from inhibition of the oculomotor nerve to the levator palpebrae superioris. Familial occurrence has been reported." "" + "honey-droplet corneal dystrophy" "" + "congenital hereditary endothelial dystrophy type I" "Congenital hereditary endothelial dystrophy I (CHED I) is a rare subtype of posterior corneal dystrophy characterized by a diffuse ground-glass appearance of the corneas and marked corneal thickening from birth or infancy without nystagmus, with blurred vision." "" + "Axenfeld anomaly" "Axenfeld's anomaly is a rare congenital ocular defect caused by anterior segment dysgenesis and is characterized by anteriorly displaced SchwalbeBs line and iris bands extending into the cornea. In contrast, RiegerBs anomaly includes characteristic iris and pupil anomalies." "" + "Chandler syndrome" "Chandler syndrome, the most frequent clinical variant of iridocorneal endothelial (ICE) syndrome, is characterized by very few iris abnormalities but more severe corneal edema and less severe secondary glaucoma than seen in the other two ICE syndrome variants: Cogan-Reese syndrome and essential iris atrophy." "" + "Cogan-Reese syndrome" "Cogan-Reese syndrome is a clinical variant of iridocorneal endothelial (ICE) syndrome characterized by variable iris atrophy, pigmented and pedunculated nodules on the iris and corneal abonormalities. Secondary glaucoma is also a common complication of the disease." "" + "essential iris atrophy" "Essential iris atrophy is a clinical variant of iridocorneal endothelial (ICE) syndrome, characterized by progressive iris atrophy and holes present on the surface of the iris, corneal edema, corectopia, uveal ectropion and anterior synechiae. Secondary glaucoma is also a common complication of the disease." "" + "early-onset posterior polar cataract" "" + "multifocal pattern dystrophy simulating fundus flavimaculatus" "Multifocal pattern dystrophy simulating fundus flavimaculatus is a patterned dystrophy of the retinal pigment epithelium characterized by multiple yellowish irregular flecks scattered or interconnected around the macula, simulating what is observed in Stargardt disease, and usually asymptomatic until adulthood when patients present with a slowly progressive loss of vision that often only becomes apparent in old age." "" + "fundus pulverulentus" "Fundus pulverulentus is a rare form of patterned dystrophy of the retinal pigment epithelium characterized by a granular appearance in the macula, with coarse and punctiform mottling of the retinal pigment epithelium within the macular region. Association with choroidal neovascularization has been reported." "" + "Niemann-Pick disease type E" "Niemann-Pick disease, type E is a poorly defined adult-onset and non-neuronopathic form of Niemann-Pick disease." "" + "congenitally uncorrected transposition of the great arteries with coarctation" "" + "double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis" "" + "double outlet right ventricle with subpulmonary ventricular septal defect" "" + "double outlet right ventricle with non-committed subpulmonary ventricular septal defect" "" + "pulmonary valve agenesis-ventricular septal defect-persistent ductus arteriosus syndrome" "" + "pulmonary artery coming from patent ductus arteriosus" "" + "pulmonary artery coming from the aorta" "Pulmonary artery coming from the aorta (PACA) is a cardiac malformation characterized by anomalous origin of one branch of the pulmonary arteries from the ascending aorta and a normal origin of the other pulmonary artery from the right ventricular outflow tract, and presenting with respiratory distress, congestive heart failure and failure to thrive within the first days/months of life." "" + "discrete fibromuscular subaortic stenosis" "" + "tunnel subaortic stenosis" "" + "valvar pulmonary stenosis" "A congenital cardiovascular malformation of the pulmonary valve in which there is narrowing or stricture (obstruction to flow)." "" + "anomaly of the tricuspid valve chordae" "Anomaly of the tricuspid valve chordae is a rare, congenital anomaly of the tricuspid subvalvular apparatus characterized by aberrant tendinous chords, which insert at the clear zone of the leaflet instead of its free edge and connect to the endocardium instead of the papillary muscles. Resulting tethering of one or more tricuspid leaflets leads to their impaired mobility and tricuspid regurgitation. Association with other congenital cardiac anomalies has been reported." "" + "parachute tricuspid valve" "Parachute tricuspid valve is a rare congenital heart malformation defined as an insertion of the chordal apparatus into a single papillary muscle or a muscle group, making a pathognomonic 'pear' shape sign in the four-chamber echocardiographic view with the atrium forming the larger base of the pear and the leaflets the apex. Isolated parachute tricuspid valve may be asymptomatic or present with symptoms of tricuspid stenosis (diastolic inspiratory murmur, pulsation of jugular veins, hepatomegaly, edema, epigastric discomfort, right atrial enlargement, right ventricular hypertrophy, electrocardiography abnormalities). It may also be associated with other heart malformations and present with symptoms of the complex of malformations." "" + "congenital mitral stenosis" "Congenital mitral stenosis is a congenital heart malformation comprising a spectrum of morphologically heterogeneous developmental anomalies that result in functional and anatomic obstruction of inflow into the left ventricle. The structure of the mitral valve is affected at the level of the supravalvular ring, annulus, leaflets or subvalvar copmponents and include supra-valvular ring, leaflet fusion (intra-leaflet ring), mitral parachute deformity and papillary muscle abnormalities. It may be isolated or associated with other heart malformations. The clinical presentation depends on the degree of obstruction, the presence of regurgitation, the presence and severity of associated pulmonary hypertension, and the presence of associated heart malformations. It may present with symptoms and signs of low cardiac output and right ventricular failure such as pulmonary infections, failure to thrive, exertional dyspnoea, cough, cyanosis and congestive heart failure." "" + "congenital hypoplasia of the mitral valve annulus" "Hypoplasia of the mitral valve annulus is a rare, congenital, mitral valve malformation characterized by hypoplastic annulus which usually appears within a complete mitral valve hypoplasia, causing mitral valve stenosis. Association with other cardiac malformation is common, including coarctation of the aorta, aortic valve stenosis, Shone complex and hypoplastic left heart syndrome." "" + "congenital supravalvular mitral ring" "Congenital supravalvular mitral ring is a rare, congenital, mitral valve malformation characterized by an abnormal ridge of the connective tissue on the atrial side of the mitral valve, which can present clinically with signs and symptoms of left ventricle inflow obstruction (dyspnea, tachypnea, pulmonary hypertension, right ventricle hypertrophy, pulmonary edema). Association with other mitral valve anomalies, aortic stenosis, ventricular septal defect, patent ductus arteriosus, double-outlet right ventricle, pulmonary hypertension, and Shone complex has been reported." "" + "congenital unguarded mitral orifice" "Congenital unguarded mitral orifice is a rare, congenital, mitral valve malformation characterized by complete absence of mitral valve leaflets and tensor apparatus at the mitral annulus, which can present clinically with cyanosis, heart murmur, electrocardiogram abnormalities, mild cardiomegaly, or congestive heart failure. Association with heterotaxy, discordant atrioventricular connections, double-outlet right ventricle, pulmonary atresia or stenosis, thin left ventricular wall, and hypoplastic left heart syndrome has been reported." "" + "congenital accessory mitral valve tissue" "Accessory mitral valve tissue is a congenital non-syndromic heart malformation defined as an accessory mitral valve leaflet or various accessory mitral valve structures. It may be asymptomatic or present at various ages with symptoms of left ventricular outflow tract obstruction, low cardiac output due to subaortic obstruction or congestive heart failure. In some cases, it may be a source of cardioembolism. The malformation may be isolated or associated with other congenital heart malformations." "" + "congenital mitral valve agenesis" "Mitral valve agenesis is a rare congenital heart malformation defined as an agenesis or severe hypoplasia of both mitral valve leaflets (complete agenesis) or one of the leaflets (partial agenesis). Complete mitral valve agenesis presents in the neonatal period with symptoms of severe mitral regurgitation and is rapidly fatal unless surgically treated. It is frequently associated with other heart malformations. Partial mitral valve agenesis may present at various ages, usually with symptoms of mitral regurgitation." "" + "shone complex" "A congenital cardiovascular abnormality characterized by the presence of subvalvar left ventricular outflow tract obstruction, coarctation of the aorta, and mitral stenosis." "" + "straddling and/or overriding mitral valve" "" + "complete atrioventricular canal-left heart obstruction syndrome" "" + "complete atrioventricular canal-ventricle hypoplasia syndrome" "" + "complete atrioventricular canal-tetralogy of fallot syndrome" "" + "univentricular heart with single atrio-ventricular valve" "" + "aorto-right ventricular tunnel" "" + "aorto-left ventricular tunnel" "" + "congenital patent ductus arteriosus aneurysm" "Congenital patent ductus arteriosus aneurysm is a rare, congenital, arterial duct anomaly characterized by a saccular dilatation of the ductus arteriosus. It is often asymptomatic or presents shortly after birth with respiratory distress, stridor, cyanosis and/or weak cry. Complications, such as rupture, thromboembolism, infection, airway erosion and/or compression of the adjacent thoracic structures, can develop. Spontaneous resolution has been reported." "" + "encircling double aortic arch" "Encircling double aortic arch is a very rare congenital anomaly of the great arteries characterized by the presence of two aortic arches (right and left) which encircle and compress the trachea and esophagus, resulting in various respiratory and gastrointestinal symptoms (e.g. harsh breathing, stridor, dyspnea, cyanotic and choking episodes, chronic cough, recurrent respiratory tract infections, dysphagia and reflux). Esophageal atresia and tracheoesophageal fistula have also been reported. It usually occurs isolated, but, on occasion, may be associated with other congenital heart anomalies and chromosomal aberations." "" + "persistent fifth aortic arch" "" + "Kommerell diverticulum" "Kommerell diverticulum (KD) is a developmental anomaly of the aortic arch characterized by a diverticulum at the proximal descending aorta of left or right arch configuration that gives rise to an aberrant subclavian artery. KD is primarily asymptomatic but may become symptomatic secondary to dilatation of KD, atheroma and fibrotic changes in paratracheal or paraesophageal tissue, presenting with signs of tracheal compression (more common in children), esophageal compression (dysphagia lusoria; more common in patients with a right sided aortic arch), chest pain, or blood pressure difference in the upper limbs. KD may also predispose toward aortic dissection or rupture." "" + "Neuhauser anomaly" "Neuhauser anomaly is a rare cardiovascular morphological anomaly due to maldevelopment of embryonal aorta resulting in right aortic arch and left ligamentum arteriosum characterized by tracheoesophageal compression symptoms (stridor, dyspnea, dysphagia, apnoeic episodes, recurrent respiratory infections)." "" + "right aortic arch" "An anatomic abnormality that occurs during embryonic development, in which the aortic arch is right-sided." "" + "dysphagia lusoria" "" + "pulmonary artery hypoplasia" "" + "pulmonary branch stenosis" "Narrowing of the lumen of the right or left pulmonary artery branch." "" + "coronary artery intramyocardial course" "" + "aortopulmonary coronary arterial course" "Aortopulmonary coronary arterial course is a rare coronary artery congenital malformation characterized by anomalous origin of the coronary artery from the contralateral sinus of Valsalva with course between the aorta and the pulmonary artery. The anomaly is associated with increased risk of sudden cardiac death, especially during exercise." "" + "stenosis or atrophy of the coronary ostium" "" + "intramural coronary arterial course" "Intramural coronary arterial course is a rare coronary artery congenital malformation disorder characterized by an atypical course of a coronary artery (usually proximal left anterior descending artery) in which, for a variable length, the artery runs intramyocardally. Depending on the artery and length of segment involved, patients may be asymptomatic or may present variable manifestations ranging from atypical angina to sudden death." "" + "abnormal number of coronary ostia" "" + "malposition of the coronary ostium" "Malposition of the coronary ostium is a rare coronary artery congenital malformation characterized by displacement of one of the coronary arteries, originating closer to the aortic root or to the commissural area. The anomaly is considered to be asymptomatic, however, it may impose surgical difficulties during aortic root surgery." "" + "Laubry-Pezzi syndrome" "Laubry-Pezzi syndrome is a rare, non-syndromic, congenital heart malformation characterized by the prolapse of an aortic valve cusp into a subjacent ventricular septal defect due to Venturi effect, resulting in aortic regurgitation. Patients typically present with symptoms of progressive aortic valve insufficiency, such as shortness of breath, heart palpitations, chest pain and exercise intolerance." "" + "congenital Gerbode defect" "" + "cor triatriatum dexter" "" + "cor triatriatum sinister" "Cor triatriatum sinister (CTS) results when the left atrium is divided into two compartments by a membrane. The membrane can vary in size and shape and may have one or more openings. Severe cases of cor triatriatum sinister usually present in infancy and are often associated with other heart defects. In less severe cases, the diagnosis may not be made until later in life. The specific symptoms depend on the degree to which the membrane obstructs the flow of blood and whether or not there are additional heart defects. Symptoms may range from mild shortness of breath during exercise to signs of heart failure and lung congestion. Some people with CTS may not have symptoms. Treatment varies according to the severity of the symptoms. For symptomatic patients, surgery is generally consideredthe definitive course of therapy." "" + "juxtaposition of the atrial appendages" "Juxtaposition of the atrial appendages is a rare atrial appendage anomaly when both appendages are located on the left or the right side of the great arteries. It is asymptomatic and is usually diagnosed incidentally, but is frequently associated with other congenital heart diseases." "" + "ectasia of the right atrial appendage" "Ectasia of the right atrial appendage is a rare cardiac malformation characterized by the enlargement of the right auricle without any other associated cardiac lesions. It can be asymptomatic and diagnosed fortuitously, prenatally or during routine clinical examinations or it can present with heart murmur, palpitation, atrial arrhythmia, fatigue, dyspnea or respiratory distress." "" + "ectasia of the left appendage" "Ectasia of the left atrial appendage is a rare cardiac malformation characterized by the enlargement of the left auricle without any other associated cardiac lesions. It can be asymptomatic (discovered fortuitously during routine chest imaging as an unusual cardiac shadow) or present clinically with supraventricular tachyarrhythmia, paroxysmal tachycardia, embolic events, respiratory distress, chest pain, angina pectoris or heart failure." "" + "atrial septal defect, ostium secundum type" "" + "atrial septal defect, coronary sinus type" "" + "atrial septal defect, sinus venosus type" "" + "atrial septal defect, ostium primum type" "Atrioventricular septal defect with communication at the atrial level only." "" + "atrial septal aneurysm" "" + "patent foramen ovale" "A persistent opening in the atrial septum after birth. While a normal part of fetal circulation, the foramen ovale should close once the newborn begins breathing and the pressure in the left atrium exceeds that of the right atrium. While a PFO is generally asymptomatic, it can lead to the passage of clots from the venous circulation into the artierial circulation, resulting in paradoxical emboli, and possible strokes." "" + "persistent left superior vena cava connecting to the left-sided atrium" "Persistent left superior vena cava connecting to the left-sided atrium is a rare, congenital vascular malformation of the major vessels characterized by a persitent left superior vena cava which drains directly to the left atrium, without passing through the coronary sinus (that may be absent in some cases). Patients are usually asymptomatic and discovered incidentally, however hypoxia, cyanosis, murmurs, palpitations, cardiac structural anomalies (e.g. atrial septal defect, bicuspid aortic valve, cor triatrium) and risk of paradoxical embolization may be associated." "" + "right superior vena cava connecting to left-sided atrium" "Right superior vena cava connecting to the left-sided atrium is a rare, congenital vascular malformation of the major vessels characterized by the right SVC passing medially and dorsally to the aortic root and draining into the left atrium. Patients usually present a right-to-left systemic venous blood shunt which may manifest with arterial hypoxemia, cyanosis, exercise dyspnea, clubbing of the fingers, palpitations, murmurs and/or potentially fatal brain abscess. Association with other cardiac anomalies has been reported." "" + "left superior vena cava persisting to left-sided atrium" "" + "absence of innominate vein" "Absence of innominate vein is a rare congenital anomaly of the great veins characterized by absence of the left brachiocephalic vein (or innominate vein), resulting in an anomalous venous vasculature. Patients are usually asymptomatic and the anomaly is typically discovered intraoperatively. An association with persistence of left superior vena cava, permanent levoatrial cardinal vein or anomaly of the inferior vena cava has been reported in some cases." "" + "subaortic course of innominate vein" "Subaortic course of innominate vein is a rare congential anomaly of the great veins characterized by an anomalous course of the left brachiocephalic vein, passing from left to right below the aortic arch and entering the superior vena cava below the orifice of the azygos vein. Patients are frequently asymptomatic and diagnosed incidentally on imaging studies. Other cardiac malformations may be associated." "" + "agenesis of the superior vena cava" "Agenesis of the superior vena cava (SVC) is a rare congenital anomaly of the great veins characterized by unilateral or bilateral complete absence of the SVC. Unilateral agenesis is mainly asymptomatic (most of the time diagnosed incidentally) and patients usually have otherwise normal heart structure. Bilateral agenesis, however, is frequently associated with other congenital cardiac anomalies and/or conduction abnormalities (such as tetralogy of Fallot, atrial septal defect) and typically present symptoms of SVC syndrome." "" + "coronary sinus stenosis" "" + "coronary sinus atresia" "" + "right inferior vena cava connecting to left-sided atrium" "" + "persistent eustachian valve" "" + "azygos continuation of the inferior vena cava" "" + "congenital stenosis of the inferior vena cava" "" + "inferior vena cava interruption" "" + "congenital partial pulmonary venous return anomaly" "Partial pulmonary venous return (PAPVR) is a form of congenital pulmonary venous return where one or a few of the pulmonary veins drain into the right atrium or one of its tributaries instead of the left atrium. Some patients can be asymptomatic while others can manifest with non-specific signs such as frequent respiratory infections, fatigue and exertional dyspnea." "" + "congenital complete agenesis of pericardium" "Congenital complete agenesis of pericardium is a rare, mostly asymptomatic, congenital heart malformation characterized by the complete absence of the entire pericardium, or by the absence of either the right (uncommon) or left pericardium. It is occasionally associated with chest pain (common), dyspnea, dizziness, bradycardia and syncope, while exertional manifestations are rare. The disease is usually incidentally diagnosed during surgery or at autopsy." "" + "congenital partial agenesis of pericardium" "Congenital partial agenesis of pericardium is a rare, mostly asymptomatic, congenital heart malformation mainly characterized by the partial absence of the left pericardium. It is occasionally associated with chest pain or dyspnea and is usually incidentally diagnosed during surgery or at autopsy. Herniation and strangulation of a portion of the heart through the pericardial foramen may occur, resulting in myocardial acute ischemia and possible sudden death. Right side pericardium involvement is rare." "" + "pleuro-pericardial cyst" "Pleuro-pericardial cyst is a rare, mostly congenital, pericardium anomaly characterized by the presence of, usually asymptomatic, cysts which are typically located in the right costophrenic angle and are usually incidentally diagnosed. On occasion, it manifests with chest pain, dyspnea, tachycardia, persistent cough or cardiac arrhythmias. The condition is usually benign, but rare complications, such as cardiac tamponade, cardiogenic shock, mitral valve prolapse, hoarseness atrial fibrillation, right ventricular outflow, tract obstruction, spontaneous internal hemorrhage, pulmonary stenosis and sudden death, may occur." "" + "6-phosphogluconate dehydrogenase deficiency" "" + "hemolytic anemia due to erythrocyte adenosine deaminase overproduction" "Hemolytic anemia due to erythrocyte adenosine deaminase overproduction is a rare, genetic, hematologic disease characterized by mild, chronic hemolytic anemia (due to highly elevated adenosine deaminase activity in red blood cells resulting in their premature destruction), elevated reticulocyte count, splenomegaly and mild hyperbilirubinemia. Other cells and tissues are not affected." "" + "unstable hemoglobin disease" "" + "acquired von willebrand syndrome" "Acquired von Willebrand syndrome (AVWS) is a bleeding disorder marked by the same biological anomalies as those seen in hereditary von Willebrand disease (VWD) but which occurs in association with another underlying pathology, generally in elderly patients without any personal or family history of bleeding anomalies." "" + "epiblepharon" "" + "tarsal kink syndrome" "Tarsal kink syndrome is a rare congenital malformation of the tarsus that causes entropion characterized by blepharospasm and absence of an upper eyelid fold that may lead to corneal ulceration caused by the folded edge of the upper tarsus or the inturned eyelashes if not corrected by surgery." "" + "isolated congenital ectropion" "A congenital ectropion that is not part of a larger syndrome." "" + "euryblepharon" "Euryblepharon is a rare congenital eyelid anomaly of unknown etiology characterized by the bilateral horizontal enlargement of the palpebral fissure with vertically shortened eyelids, lateral canthus malpositioning and lateral ectropion. It may be isolated or associated with other ocular anomalies (e.g. strabismus or telecanthus) or systemic anomalies (e.g. blepharo-cheilo-odontic syndrome). In severe cases, it may result in lagophthalmos and exposure keratopathy, requiring surgical treatment." "" + "congenital eyelid retraction" "Congenital eyelid retraction is a very rare kinetic eyelid anomaly that can affect the upper or lower eyelid, presents at birth, that in some cases can result in corneal exposure, and that may be associated with accessory levator muscle slips." "" + "monosomy X" "" + "mosaic monosomy X" "" + "paternal uniparental disomy of chromosome 13" "Paternal uniparental disomy of chromosome 13 is an uniparental disomy of paternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier." "" + "48,XYYY syndrome" "48,XYYY syndrome is a rare Y chromosome number anomaly that affects only males and is characterized by mild-moderate developmental delay (especially speech), normal to mild intellectual disability, large, irregular teeth with poor enamel, tall stature and acne. Radioulnar stenosis and clinodactyly have also been associated. Boys generally present normal genitalia, while hypogonadism and infertility is frequently reported in adult males." "" + "49,XYYYY syndrome" "49,XYYYY is a rare Y chromosome number anomaly with a variable phenotype mainly characterized by moderate to severe intellectual disability, speech delay, hypotonia, and mild dysmorphic features, including facial asymmetry, hypertelorism, bilateral low set 'lop' ears, and micrognatia. Skeletal abnormalities (such as skull deformities, radioulnar synostosis, elbow flexion, clinodactyly, brachydactyly) and behavourial problems have also been associated with this condition. Genitalia are normal at birth, although hypogonadism and azoospermia has been reported in adults." "" + "obsolete pituitary adenoma" "" "true" + "Turner syndrome due to structural X chromosome anomalies" "" + "dappled diaphyseal dysplasia" "" + "cheirospondyloenchondromatosis" "Cheirospondyloenchondromatosis is an extremely rare type of enchondromatosis of very early onset (from neonatal period to infancy) characterized by symmetrical multiple enchondromas with metacarpal and phalangeal involvement resulting in short hands and feet, platyspondyly, mild to moderate short stature and intellectual disability." "" + "dermotrichic syndrome" "" + "mesial temporal lobe epilepsy with hippocampal sclerosis" "Mesial temporal lobe epilepsy with hippocampal sclerosis is a rare epilepsy syndrome defined by seizures originating in limbic areas of the mesial temporal lobe, particularly in the hippocampus, amygdala, and in the parahippocampal gyrus and its connections, and hippocampal sclerosis, usually unilateral or assymetric. It is frequently associated with an initial precipitating event, such as febrile seizures, hypoxia, intracranial infection or head trauma, most often occurring in the first five years of life, followed by a latent period without seizures. Typical seizures consist of a characteristic aura that is frequently a rising epigastric sensation associated with emotional disturbances, illusions, and autonomic symptoms (widened pupils, palpitations), progressive impairment of consciousness, oro-alimentary automatisms (lip smacking, chewing, licking, tooth grinding), behavioral arrest, head deviation, dystonic postures, hand and verbal automatisms. Seizures are followed by postictal dysfunction. Initially, seizures are easily controlled with antiepileptic drugs, later they frequently become refractory and associated with progressive behavioral changes and memory deficits." "" + "progeria-associated arthropathy" "" + "pituitary gigantism" "The condition of accelerated and excessive growth in children or adolescents who are exposed to excess human growth hormone before the closure of epiphyses. It is usually caused by somatotroph hyperplasia or a growth hormone-secreting pituitary adenoma. These patients are of abnormally tall stature, more than 3 standard deviations above normal mean height for age." "" + "myotonia fluctuans" "Myotonia fluctuans (MF) is a form of potassium-aggravated myotonia (PAM) which is cold insensitive, dramatically fluctuating and profoundly worsened by potassium ingestion." "" + "myotonia permanens" "Myotonia permanens is a very rare, persistent and more severe form of potassium-aggravated myotonia (PAM)." "" + "acetazolamide-responsive myotonia" "Acetazolamide-responsive myotonia is a form of potassium-aggravated myotonia (PAM) which shows dramatic improvement with the use of acetazolamide (ACZ)." "" + "obsolete rare familial disorder with hypertrophic cardiomyopathy" "True" "true" + "King-Denborough syndrome" "King-Denborough syndrome is a rare genetic non-dystrophic myopathy characterized by the triad of congenital myopathy, dysmorphic features and susceptibility to malignant hyperthermia. Patients present with a wide phenotypic range, including delayed motor development, muscle weakness and fatigability, ptosis and facies myopathica (with or without creatine kinase elevations), skeletal abnormalities (e.g. short stature, scoliosis, kyphosis, lumbar lordosis and pectus carinatum/excavatum), mild dysmorphic facial features (e.g. hypertelorism, down-slanting palpebral fissures, epicanthic folds, low set ears, micrognathia), webbing of the neck, cryptorchidism, and a susceptibility to malignant hyperthermia and/or rhabdomyolysis due to intensive physical strain, viral infection or statin use." "" + "" "true" + "Pontiac fever" "Pontiac fever (PF) is a mild form of legionellosis manifesting with flu-like symptoms such as nausea, myalgia, fever, cough and headache but without pneumonia." "" + "mosaic trisomy 9" "Mosaic trisomy 9 is a chromosomal abnormality that can affect may parts of the body. In people affected by this condition, some of the body's cells have three copies of chromosome 9 (trisomy), while other cells have the usual two copies of this chromosome. The signs and symptoms vary but may include mild to severe intellectual disability, developmental delay, growth problems (both before and after birth), congenital heart defects, and/or abnormalities of the craniofacial (skull and face) region. Most cases are not inherited; it often occurs sporadically as a random event during the formation of the reproductive cells (egg and sperm) or as the fertilized egg divides. Treatment is based on the signs and symptoms present in each person." "" + "hemimegalencephaly" "Hemimegalencephaly is a rare cerebral malformation characterized by overgrowth of all or part of a cerebral hemisphere, often with ipsilateral severe cortical dysplasia or dysgenesis, white matter hypertrophy and dilated lateral ventricle, presenting in early infancy with progressive hemiparesis, severe psychomotor retardation and intractable seizures. Hemimegalencephaly may be an isolated finding or associated with other syndromes such as angioosteohypertrophic syndrome, epidermal nevus syndrome and Ito hypomelanosis. Management includes seizure control by antiepileptic medications and early hemispherectomy." "" + "Haddad syndrome" "Haddad syndrome is a rare congenital disorder in which congenital central hypoventilation syndrome (CCHS), or Ondine syndrome, occurs concurrently with Hirschsprung disease." "" + "oculootodental syndrome" "Oculootodental syndrome is a contiguous gene syndrome comprising otodental syndrome (characterized by globodontia and sensorineural high-frequency hearing deficit) associated with eye abnormalities including, typically, iris and chorioretinal coloboma, as well as, on occasion, microcornea, microphtalmos, lenticular opacity, lens coloboma and iris pigment epithelial atrophy." "" + "peho-like syndrome" "PEHO-like syndrome is a rare, genetic neurological disease characterized by progressive encephalopathy, early-onset seizures with a hypsarrhythmic pattern, facial and limb edema, severe hypotonia, early arrest of psychomotor development and craniofacial dysmorphism (evolving microcephaly, narrow forehead, short nose, prominent auricles, open mouth, micrognathia), in the absence of neuro-ophthalmic or neuroradiologic findings. Poor visual responsiveness, growth failure and tapering fingers are also associated." "" + "Turcot syndrome with polyposis" "Turcot syndrome with polyposis or Turcot syndrome type 2 is a form of familial adematous polyposis, characterized by the concurrence of thousands of colonic adenomatous polyposis or colorectal cancer (CRC) and a primary central nervous system tumor (principally medulloblastoma). It is also associated with pigmented ocular fundus lesions." "" + "obsolete Lassa fever" "" "true" + "Nipah virus disease" "Nipah virus disease, caused by the Nipah virus, is a recently discovered zoonotic disease characterized by fever, constitutional symptoms and encephalitis, sometimes accompanied by respiratory illness." "" + "Marburg hemorrhagic fever" "Marburg hemorrhagic fever (MHF), caused by Marburg virus, is a severe viral hemorrhagic disease characterized by initial fever and malaise followed by gastrointestinal symptoms, bleeding, shock, and multi-organ system failure." "" + "Crimean-Congo hemorrhagic fever" "Crimean-Congo hemorrhagic fever (CCHF) is a tick-borne zoonotic disease caused by CCHF virus and characterized by initial fever, headache, and malaise followed by gastrointestinal symptoms and, in severe cases, bleeding, shock, and multi-organ system failure." "" + "yellow fever" "Yellow fever (YF), caused by YF virus, is a zoonotic disease characterized by fever and constitutional symptoms, with the potential to progress to severe and fatal viral hemorrhagic fever with shock and multi-organ system failure." "" + "resistance to thyrotropin-releasing hormone syndrome" "Resistance to thyrotropin-releasing hormone (TRH) syndrome is a type of central congenital hypothyroidism characterized by low levels of thyroid hormones due to insufficient release of thyroid-stimulating hormone (TSH) caused by pituitary resistance to TRH. It may or may not be observed from birth." "" + "ravine syndrome" "Ravine syndrome is an extremely rare genetic neurological disorder, reported in a small number of patients in a specific community on Reunion Island (Ravine region), characterized by infantile anorexia with irrepressible and repeated vomiting, acute brainstem dysfunction, severe failure to thrive, and progressive encephalopathy with MRI showing vanishing of medulla oblongata and cerebellar white matter and severe atrophy of pons, along with supra-tentorial periventricular white-matter hyperintensities and basal ganglia anomalies." "" + "Cree leukoencephalopathy" "" + "secondary syringomyelia" "Secondary syringomyelia is a rare medullar disease defined as a development of a fluid-filled cavity or syrinx within the spinal cord due to blockage of CSF circulation (e.g., due to basal archnoiditis, meningeal carcinomatosis, various mass lesions), spinal cord injury (e.g., due to trauma, radiation necrosis, hemorrhage, spinal abscess), spinal dysraphism or intramedullary tumours. It presents with neuropathic pain, numbness, muscular weakness, changes in tone or spasticity or autonomic changes (hyperhidrosis, heart rate or blood pressure instability). Selective loss of pain and temperature with relative preservation of dorsal column function (touch and pressure) are classic findings." "" + "idiopathic syringomyelia" "Idiopathic syringomyelia is a rare, non-syndromic central nervous system malformation characterized by a longitudinally oriented fluid-filled cavity inside the spinal cord parenchyma or the central canal, without any readily identifiably cause. It is usually associated with pain, sensory and/or musculoskeletal disturbances, but it can also be an incidental and asymptomatic finding." "" + "precursor T-cell acute lymphoblastic leukemia" "" + "spermatocytic seminoma" "A rare variant of seminoma characterized by the presence of three cell types: round cells with eosinophilic cytoplasm, small cells with dark nucleus and a small amount of cytoplasm, and mono-or multinucleated giant cells. The neoplastic cells are not cohesive. There is an edematous stroma present; lymphocytic infiltrates are rarely seen. Most patients are older males." "" + "obsolete thymoma" "" "true" + "obsolete thymic carcinoma" "" "true" + "eosinophilic granuloma" "A clinical variant of Langerhans cell histiocytosis characterized by unifocal involvement of a bone (most often), skin, or lung. Patients are usually older children or adults usually presenting with a lytic bone lesion. The etiology is unknown. Morphologically, eosinophilic granuloma is characterized by the presence of Langerhans cells in a characteristic milieu which includes histiocytes, eosinophils, neutrophils, and small, mature lymphocytes." "" + "Hashimoto-Pritzker syndrome" "Hashimoto-Pritzker histiocytosis (HPH) is a variant of Langerhans cell histiocytosis characterized by multiple disseminated skin lesions (firm, red-brown, painless papulo-nodules)." "" + "hand-Schuller-Christian disease" "A multifocal, unisystem form of Langerhans-cell histiocytosis. There is involvement of multiple sites in one organ system, most frequently the bone. Patients are usually young children presenting with multiple destructive bone lesions." "" + "adult pulmonary Langerhans cell histiocytosis" "Adult pulmonary Langerhans Cell Histiocytosis (PLCH) is a rare histiocytic lung disease characterized by the accumulation of Langerhans and other inflammatory cells in the small airways, resulting in the formation of nodular inflammatory lesions." "" + "Ehlers-Danlos syndrome type 7A" "" + "Ehlers-Danlos syndrome type 7B" "" + "familial parathyroid adenoma" "An instance of parathyroid gland adenoma that is caused by an inherited modification of the individual's genome." "" + "primary parathyroid hyperplasia" "" + "acute megakaryoblastic leukemia in down syndrome" "" + "ectopic Cushing syndrome" "Cushing syndrome due to ectopic (adrenocorticotropic hormone) ACTH secretion (EAS) is a form of ACTH-dependent Cushing syndrome caused by excess secretion of ACTH by a benign or, more often, malignant non-pituitary tumor." "" + "mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency" "Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete interferon gamma receptor 1 (IFN-gammaR1) deficiency is a genetic variant of MSMD characterized by a complete deficiency in IFN-gammaR1, leading to impaired IFN-gamma immunity and, consequently, to severe and often fatal infections with bacillus Calmette-GuC)rin (BCG) and other environmental mycobacteria (EM)." "" + "spirillary rat-bite fever" "Spirillary rat-bite fever (RBF), also known as Sodoku (Japanese for so: rat and doku: poison), is caused by the gram-negative bacillus Spirillum minus and is transmitted to humans through the bites and scratches of rats. The disease is mostly present in Asia." "" + "streptobacillary rat-bite fever" "Streptobacillary rat-bite fever (RBF) is a systemic zoonosis caused by the aerobic gram-negative bacterium Streptobacillus moniliformis and is transmitted to humans through the bites and scratches of infected rats." "" + "obsolete farmer's lung" "" "true" + "house allergic alveolitis" "House allergic alveolitis is a hypersensitivity pneumonitis resulting from the inhalation of an antigen to which an individual has been previously sensitized in his/her domestic environment. House allergic alveolitis encompasses summer hypersensitivity pneumonitis, humidifier-induced lung diseases, hot tub lung and legionellosis." "" + "obsolete pigeon-breeder lung disease" "" "true" + "occupational lung disease" "" + "malignant dysgerminomatous germ cell tumor of ovary" "Malignant dysgerminomatous germ cell tumor of ovary is the most common form of malignant germ cell tumor of ovary, arising from germ cells in the ovary, usually presenting during adolescence with pelvic mass, fever, vaginal bleeding, and acute abdomen and is characterized by bilaterality (around 10% of cases), association with dysgenetic gonads (5 to 10% of cases), elevated serum lactate dehydrogenase (LDH) and human chorionic gonadotrophin (hCG) (in the presence of syncitiotrophoblasts). Malignant dysgerminomatous germ cell tumor of ovary responds well to chemotherapy, potentially sparing patients from infertility and early mortality." "" + "ovarian gynandroblastoma" "A rare neoplasm arising from the ovary. Although it may occur at any age, it is more often seen in young females. Morphologically, it is characterized by a mixture of two cellular populations: well differentiated Sertoli cells and granulosa cells, with the latter constituting at least ten percent of the neoplasm. The vast majority of cases are stage I lesions at presentation and produce either estrogenic or androgenic manifestations. Although it may present as a massive ovarian tumor, it usually follows a benign clinical course. Very rare case reports of testicular lesions morphologically resembling gynandroblastomas are in fact variants of juvenile granulose cell tumor, or Sertoli cell tumor, or a combination of both." "" + "maligant granulosa cell tumor of ovary" "An aggressive granulosa cell tumor that arises from the ovary and metastasizes to other anatomic sites." "" + "ovarian granulosa cell tumor" "A granulosa-stromal cell tumor that arises from the ovary. It is characterized by the presence of granulosa cells that comprise at least ten percent of the cellular population. The granulosa cells are often found in a background that contains theca and fibrous cells. There are two major subtypes recognized, adult and juvenile granulosa cell tumor. Clinically, patients may present with an abdominal mass. Symptoms depend on the patient's age. The most important indicator of prognosis is tumor stage. Age over forty years at the time of the initial diagnosis, large tumor size, bilaterality, cellular atypia, and increased mitotic activity are factors indicating a potentially aggressive clinical course and relative poor prognosis." "" + "malignant Sertoli-Leydig cell tumor of ovary" "Malignant Sertoli-Leydig cell tumor of ovary is a rare malignant sex cord stromal tumor of ovary occuring typically in young women and characterized by manifestations of androgen excess (hirsutism, hair loss, amenorrhea, or oligomenorrhea), when functional." "" + "ovarian Sertoli-Leydig cell tumor" "A benign or malignant sex cord-stromal tumor arising from the ovary. It is characterized by the presence of neoplastic Leydig cells. Signs and symptoms include hirsutism, menorrhagia and metrorrhagia. It may be associated with trisomy 8." "" + "theca steroid-producing cell malignant tumor of ovary, not further specified" "Malignant steroid cell tumor of the ovary, not otherwise specified is a rare malignant sex cord stromal tumor of ovary of unknown histological lineage, occurring in adult women, characterized, in most cases, by manifestations of androgen excess (hirsutism, hair loss, amenorrhea, or oligomenorrhea) and, occasionally, Cushing syndrome." "" + "streptococcal toxic-shock syndrome" "Streptococcal toxic-shock syndrome (streptococcal TSS) is an acute disease mediated by the production of superantigenic toxins characterized by the sudden onset of fever and other febrile symptoms, pain, multisystem organ involvement and potentially leading to coma, shock and death due to a Streptococcus pyogenes infection." "" + "staphylococcal toxic-shock syndrome" "Staphylococcal toxic shock syndrome (staphylococcal TSS) is an acute disease mediated by the production of superantigenic toxins, characterized by high fever, skin rash followed by skin peeling, hypotension, vomiting, diarrhea and potentially leading to multisystem organ failure and caused by a Staphylococcus aureus bacterial infection." "" + "acute graft versus host disease" "A syndrome of immunologically mediated tissue damage that may occur following an allogeneic transplant, usually affecting the skin, liver, and GI tract. The onset is usually within one hundred days of transplantation or immunologic manipulation." "" + "chronic graft versus host disease" "Chronic graft versus host disease (GVHD) is a complication that can occur after a stem cell or bone marrow transplant in which the newly transplanted donor cells attack the transplant recipient's body. Symptoms may include skin rash, mouth sores, dry eyes, liver inflammation, development of scar tissue in the skin and joints, and damage to the lungs. The exact cause of chronic GVHD is unknown.It likely results from a complex immune-mediated interaction between the donor and recipient cells.Chronic GVHD is treated with prednisone or other similar anti-inflammatory or immunosuppressive medications." "" + "ocular pemphigoid" "Ocular pemphigoid is a rare inflammatory eye disease characterized by sub-epithelial blistering manifesting with bilateral, asymmetrical, chronic or recurrent conjunctivitis and aberrant tissue regeneration leading to progressive conjunctival fibrosis, secondary corneal vascularization and, in some cases, blindness. Patients typically present with conjunctival redness, increased lacrimation, burning and/or foreign body sensation, edema, limbitis and/or varying degrees of ocular pain. Ankyloblepharon may be observed in end stages of the disease." "" + "invasive hydatidiform mole" "A complete hydatidiform mole or very rarely a partial mole that invades the myometrium." "" + "obsolete hydatidiform mole" "" "true" + "placental site trophoblastic tumor" "Placental site trophoblastic tumor is a rare gestational trophoblastic tumor (GTT) which develops from the placental implantation site and always occurs following pregnancy, voluntary termination of pregnancy (VTP) or miscarriage." "" + "secondary pulmonary hemosiderosis" "Secondary pulmonary hemosiderosis is a respiratory disease due to the deposition of hemosiderin-laden macrophages in lungs as a result of repeated alveolar hemorrhage secondary to another disease, especially dysimmunitary disorders (i.e. Heiner syndrome, autoimmune diseases), thrombotic disorders and cardiovascular disorders such as mitral stenosis. It manifests as a triad of hemoptysis, anemia and diffuse parenchymal infiltrates on chest radiography" "" + "Heiner syndrome" "Heiner syndrome, also called cow's milk hypersensitivity, is a food induced pulmonary hypersensiting syndrome that affects primarily infants and that is characterized by pulmonary hemosiderosis, digestive bleeding, anemia and poor growing, improving with elimination of cow's milk from the diet." "" + "pleuropulmonary blastoma type 1" "A pleuropulmonary blastoma composed of malignant small cells. Sarcomatous features are absent." "" + "pleuropulmonary blastoma type 2" "A pleuropulmonary blastoma composed of malignant small cells and characterized by the presence of a sarcomatous component. It usually follows an aggressive clinical course." "" + "pleuropulmonary blastoma type 3" "A pleuropulmonary blastoma characterized by a solid pattern and sarcomatous features. It usually follows an aggressive clinical course." "" + "autosomal dominant Charcot-Marie-Tooth disease type 2K" "Autosomal dominant Charcot-Marie-Tooth disease, type 2K (CMT2K) is an axonal CMT peripheral sensorimotor polyneuropathy." "" + "O'Sullivan-McLeod syndrome" "O'Sullivan McLeod syndrome is a benign lower motor neuron disorder and a rare variant of monomelic amyotrophy (MA), characterized by an initial unilateral weakness in the intrinsic hand muscles that eventually spreads to the opposite limb (with an asymmetrical distribution) and that has a very slow progression of muscular atrophy over a 20 year period." "" + "pleomorphic liposarcoma" "Pleomorphic liposarcoma (PLS), the rarest subtype of liposarcoma (LS), is an aggressive, fast growing tumor located usually in the deep soft tissues of the lower and upper extremities. It is characterized by a variable number of pleomorphic lipoblasts and, in contrast to dedifferentiated liposarcoma, it lacks any association with well-differentiated liposarcoma." "" + "Dedifferentiated liposarcoma" "Dedifferentiated liposarcoma (DDLS) is a high-grade subtype of liposarcoma (LS) that progresses from well-differentiated liposarcoma (WDLS), and most often occurs in the retroperitoneum. It is defined as a region of nonlipogenic sarcoma associated with WDLS." "" + "obsolete well-differentiated liposarcoma" "" "true" + "obsolete adenocarcinoma of esophagus" "" "true" + "obsolete Klatskin tumor" "" "true" + "apnea of prematurity" "Apnea of prematurity is a developmental disorder affecting premature infants, likely secondary to an immaturity of respiratory control resulting in idiopathic pauses in breathing often associated with reduced heart rate and arterial blood oxygen levels. It may be exacerbated by concurrent neonatal diseases." "" + "intermediate DEND syndrome" "Intermediate DEND syndrome (iDEND) is a rare mild form of DEND syndrome, a neonatal diabetes mellitus, developmental delay and epilepsy condition. The intermediate form is characterized clinically by mild motor, speech or cognitive delay and an absence of epilepsy." "" + "obsolete Brill-Zinsser disease" "" "true" + "relapsing epidemic typhus" "" + "complex regional pain syndrome type 2" "Complex regional pain syndrome type 2 (CRPS2), or causalgia is a form of complex regional pain syndrome that develops after damage to a peripheral nerve and is characterized by spontaneous pain, allodynia and hyperalgesia, not necessarily limited to the territory of the injured nerve, as well as at some point, edema, changes in skin blood flow or sudomotor dysfunction in the pain area." "" + "obsolete vitamin D deficiency" "Abnormally low level of 25-hydroxyvitamin D in the blood." "" "true" + "benign uterine ligament neoplasm" "A non-metastasizing neoplasm that arises from the uterine ligament." "" + "anemia due to enzyme disorder" "Any form of anemia that results from the absence of, or the defective action of, any enzyme." "" + "disorder of retroperitoneum" "A disease or disorder that involves the retroperitoneal space." "" + "angiokeratoma of scrotum" "An angiokeratoma that is located on the scrotum." "" + "acute pharyngitis" "An acute and painful inflammatory process that affects the pharynx. It is usually caused by viruses and less often bacteria. Signs and symptoms include discomfort on swallowing, low-grade fever, headache, and earache." "" + "Simpson-Golabi-Behmel syndrome type 1" "Any Simpson-Golabi-Behmel syndrome in which the cause of the disease is a mutation in the GPC3 gene." "" + "X-linked chondrodysplasia punctata 2" "A rare genodermatosis with great phenotypic variation and characterized most commonly by ichthyosis, chondrodysplasia punctata (CDP), asymmetric shortening of the limbs, cataracts and short stature." "" + "Liddle syndrome 1" "Any Liddle syndrome in which the cause of the disease is a mutation in the SCNN1B gene." "" + "obsolete blood group--ahonen" "" "true" + "obsolete blood group, colton system" "" "true" + "obsolete blood group, diego system" "" "true" + "obsolete blood group--kell system" "" "true" + "obsolete blood group, kidd system" "" "true" + "obsolete blood group--lke" "" "true" + "obsolete blood group--lutheran system" "" "true" + "obsolete blood group system, landsteiner-wiener" "" "true" + "obsolete blood group, mn" "" "true" + "obsolete blood group--ok" "" "true" + "obsolete blood group--private systems" "" "true" + "obsolete blood group, langereis system" "" "true" + "obsolete blood group, ss" "" "true" + "obsolete blood group--scianna system" "" "true" + "obsolete blood group--stoltzfus system" "" "true" + "obsolete blood group--ul system" "" "true" + "obsolete blood group--waldner type" "" "true" + "obsolete blood group--wright antigen" "" "true" + "obsolete yt blood group antigen" "" "true" + "epileptic encephalopathy, infantile or early childhood" "" + "microcephaly, growth restriction, and increased sister chromatid exchange 2" "" + "epileptic encephalopathy, infantile or early childhood, 1" "" + "epileptic encephalopathy, infantile or early childhood, 2" "" + "epileptic encephalopathy, infantile or early childhood, 3" "" + "grade III meningioma" "A malignant meningioma with aggressive clinical course. It recurs in approximately 50-78% of the cases. This category includes the anaplastic (malignant) meningioma, papillary meningioma, and rhabdoid meningioma." "" + "anaplastic meningioma" "A WHO grade III meningioma characterized by the presence of malignant morphologic features, including malignant cytology and a very high mitotic index (20 or more mitoses per ten high power fields)." "" + "superficial spreading melanoma" "A type of melanoma that typically occurs in light-skinned individuals ranging in age from young adults to the elderly. Risk factors include extensive sun exposure during childhood, a family history of melanoma, and the presence of dysplastic nevi." "" + "aneuploidy" "A chromosomal abnormality in which there is an addition or loss of chromosomes within a set." "" + "autism susceptibility 1" "" + "ocular adnexal lymphoma" "A non-Hodgkin lymphoma arising from the conjunctiva, lacrimal gland, lacrimal drainage apparatus, eyelids, or other orbital tissues around the eye. The vast majority of cases are extranodal marginal zone lymphomas of mucosa-associated lymphoid tissue, however, other histologic types of lymphomas can originate from ocular adnexal tissues, including rare cases of NK/T-cell lymphomas of nasal type." "" + "microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome" "" + "warty carcinoma of the penis" "A squamous cell carcinoma that arises from the penis. It is characterized by a papillary growth pattern, hyperkeratosis and parakeratosis. Koilocytotic atypia is present. Human papillomavirus types 16 and 6 have been identified in some cases." "" + "germ cell tumor of the vulva" "" + "mixed germ cell tumor of vulva" "" + "immature teratoma of vulva" "" + "juvenile ankylosing spondylitis" "" + "human papillomavirus-related squamous cell carcinoma" "" + "infiltrating ureter transitional cell carcinoma" "" + "upper tract urothelial carcinoma" "" + "osteoblastic osteosarcoma" "A conventional osteosarcoma characterized by the predominance of osteoid matrix." "" + "undifferentiated round cell sarcoma" "An undifferentiated soft tissue sarcoma characterized by the presence of uniform round or ovoid malignant cells with a high nuclear to cytoplasmic ratio." "" + "borderline ovarian serous tumor" "A low grade serous epithelial neoplasm arising from the ovary. It is characterized by an atypical proliferation of serous-type epithelial cells without evidence of stromal invasion. It is often asymptomatic but rarely it may present with abdominal pain or abdominal enlargement due to rupture or torsion." "" + "ovarian serous tumor" "A benign, borderline, or malignant epithelial tumor of the ovary characterized by the presence of neoplastic epithelial cells that, in well differentiated tumors, resemble the epithelial cells of the fallopian tube and, in poorly differentiated tumors, show anaplastic features. Approximately thirty to fifty percent of the tumors are bilateral. Grossly, the better differentiated tumors consist of cystic masses, usually unilocular, containing a clear but sometimes viscous fluid. Papillary formations are often present. The more malignant tumors tend to be solid and invasive, with areas of necrosis and hemorrhage." "" + "tumor grade 3 or 4, general grading system" "Used to describe tumor samples that exhibit poorly differentiated or undifferentiated cells. They are generally expected to be fast growing and aggressive." "" + "Löfgren syndrome" "A sarcoidosis characterized by the triad of erythema nodosum, bilateral hilar lymphadenopathy on chest radiograph, and joint pain." "" + "Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis" "" + "obsolete spastic paraplegia 5B" "" "true" + "antithrombin deficiency type 2" "" + "obsolete susceptibility to ischemic stroke" "" "true" + "sudden hearing loss disorder" "" + "conductive hearing loss disorder" "Hearing loss caused by impaired transmission of signals from the external auditory canal or middle ear to the cochlea." "" + "acute bronchiolitis" "Acute inflammation of the bronchioles usually caused by the respiratory syncytial virus." "" + "Ehlers-Danlos syndrome, musculocontractural type 1" "" + "Ehlers-Danlos syndrome, spondylodysplastic type, 1" "" + "Ehlers-Danlos syndrome, periodontal type 1" "" + "acute tonsillitis" "An acute inflammation of the tonsils caused by viruses or bacteria. Signs and symptoms include fever, enlargement of the tonsils, difficulty swallowing, and enlargement of the regional lymph nodes." "" + "spinal cord ischemia" "Reduced blood flow to the spinal cord which is supplied by the anterior spinal artery and the paired posterior spinal arteries. This condition may be associated with arteriosclerosis, trauma, emboli, diseases of the aorta, and other disorders. Prolonged ischemia may lead to infarction of spinal cord tissue." "" + "AIDS dementia complex" "A neurologic condition associated with the ACQUIRED IMMUNODEFICIENCY SYNDROME and characterized by impaired concentration and memory, slowness of hand movements, ATAXIA, incontinence, apathy, and gait difficulties associated with HIV-1 viral infection of the central nervous system. Pathologic examination of the brain reveals white matter rarefaction, perivascular infiltrates of lymphocytes, foamy macrophages, and multinucleated giant cells. (From Adams et al., Principles of Neurology, 6th ed, pp760-1; N Engl J Med, 1995 Apr 6;332(14):934-40)" "" + "" "true" + "spondylocostal dysostosis 1, autosomal recessive" "" + "salivary gland epithelial myoepithelial carcinoma" "A carcinoma that arises from the salivary glands, most often the parotid gland. It presents as a slow growing and painless mass. It is characterized by the presence of duct-like structures lined by two layers of cells, an inner layer composed of epithelial-type cells and an outer layer composed of clear, myoepithelial-type cells." "" + "hypotonic cerebral palsy" "A type of cerebral palsy characterized by decreased muscle tone." "" + "lung epithelial-myoepithelial carcinoma" "A lung carcinoma arising within the bronchi or bronchial tubes. It is characterized by the presence of myoepithelial cells, spindle cells, clear cells, and duct-forming epithelial cells. Surgical resection may be curative." "" + "obsolete microcephaly, short stature, and impaired glucose metabolism" "" "true" + "brachydactyly type A1A" "" + "neural tube defects, susceptibility to" "" + "Heberden's node" "Osteophytes that most commonly develop on the distal interphalangeal joints, often in the setting of osteoarthritis." "" + "central hearing loss" "Hearing loss resulting from disorders of the central nervous system auditory pathways." "" + "brachial amyotrophic diplegia" "A neurodegenerative condition characterized by asymmetric weakness in the upper extremities resulting from segmental lower motor neuron dysfunction." "" + "Majocchi granuloma" "An inflammatory and granulomatous, dermatophytic infection that is classified into two forms, depending on the affected individual’s health situation and clinical picture. The first form is mainly observed in healthy individuals and is defined as a perifollicular, papular form induced by penetrating trauma that is mostly observed in the lower extremities. The second form is granulomatous, related to immunosuppression, seen in a nodular form, and usually appears on the upper extremities." "" + "amnionitis" "Inflammation of the amnion." "" + "selective peripheral resistance to thyroid hormone" "A thyroid hormone resistance syndrome characterized by resistance in peripheral tissues but not in the pituitary." "" + "46,XY sex reversal 1" "" + "pulmonary venoocclusive disease 1" "" + "mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy" "" + "multiple system atrophy 1, susceptibility to" "" + "familial thyroid dyshormonogenesis 1" "" + "autosomal dominant woolly hair" "" + "congenital short bowel syndrome 1" "" + "obsolete susceptibility to Hirschsprung disease" "" "true" + "nephrolithiasis susceptibility caused by SLC26A1" "" + "vitamin D-dependent rickets, type 1A" "" + "cerebral cavernous malformation 1" "" + "anemia due to chronic disorder" "Anemia due to a disorder that is persistent or long-standing in nature." "" + "tubulointerstitial kidney disease, autosomal dominant, 2" "An inherited disorder that causes a gradual loss of kidney function, caused by a mutation in the MUC1 gene that leads to production of an abnormal mucin 1 protein, which deposits in the kidney and leads to slow loss of kidney function." "" + "hypouricemia, renal 1" "" + "autosomal recessive agammaglobulinemia 1" "" + "carpal tunnel syndrome 1" "" + "arbovirus infection" "A viral infection that is transmitted by an arthropod." "" + "proximal symphalangism 1A" "" + "erythrocyte AMP deaminase deficiency" "True" + "ACTH-independent macronodular adrenal hyperplasia 1" "" + "uncombable hair syndrome 1" "" + "optic atrophy 10 with or without ataxia, intellectual disability, and seizures" "" + "multiple benign circumferential skin creases on limbs 1" "" + "hypercalcemia, infantile, 1" "" + "ectodermal dysplasia and immunodeficiency 1" "" + "pyridoxine-dependent epilepsy caused by ALDH7A1 mutant" "" + "obsolete cataract, microcephaly, failure to thrive, kyphoscoliosis syndrome" "" "true" + "Mobitz type I atrioventricular block" "A disorder characterized by an electrocardiographic finding of intermittent failure of atrial electrical impulse conduction to the ventricles, characterized by a progressively lengthening PR interval prior to the block of an atrial impulse. (CDISC)" "" + "autosomal dominant cardiac arrhythmia (Kuhn)" "" + "contractures, pterygia, and variable skeletal fusions syndrome 1B" "" + "sitosterolemia 1" "" + "sitosterolemia 2" "" + "polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1" "" + "polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2" "" + "orthostatic hypotension 2" "" + "myoclonic epilepsy, juvenile, susceptibility to, 1" "" + "obsolete heart block" "" "true" + "migraine, familial hemiplegic, 1" "" + "" "true" + "epilepsy, childhood absence, susceptibility to, 1" "" + "skin squamous cell carcinoma in situ" "Intraepidermal squamous cell carcinoma, confined to the epidermis. There is no evidence of invasion." "" + "Bowen disease of the skin" "A form of squamous cell carcinoma in situ. It is a distinct clinicopathological entity and arises from the skin or the mucocutaneous junction. It affects predominantly white males in their 6-8th decades of life. Exposed and non-exposed skin sites are equally affected. UV damage and ingestion of inorganic arsenic may play a role in the development of the disease. On the skin surface, it presents as a single or multiple erythematous, scaly, keratotic patches or plaques. The clinical entity of erythroplasia of Queyrat is regarded as Bowen disease of the penis and it presents as an asymptomatic, red, circumscribed plaque. Morphologically, Bowen disease is characterized by the presence of hyperkeratosis, parakeratosis, dyskeratosis, and acanthosis. The keratotic squamous cells are atypical and display hyperchromatism and abnormal mitotic figures. The dermoepidermal basement membrane is intact. Complete surgical removal of the lesion may be curative." "" + "diencephalic-mesencephalic junction dysplasia syndrome 2" "" + "Menke-Hennekam syndrome 1" "" + "Menke-Hennekam syndrome" "" + "Brown-Pearce carcinoma" "" + "neuropathy, congenital hypomyelinating, 2" "" + "neuropathy, congenital hypomyelinating, 3" "" + "cauda equina syndrome with neurogenic bladder" "A rare neurologic disorder caused by impingement of the nerve roots of the cauda equina secondary to disc herniation, spinal stenosis, vertebral fracture, neoplasm or infection. Clinical signs may include bladder or bowel dysfunction, paresthesia and weakness of the lower extremities. The development of neurogenic bladder implies that surgical decompression was either ineffective, delayed or not attempted." "" + "Menke-Hennekam syndrome 2" "" + "spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3" "" + "epilepsy, juvenile absence, susceptibility to, 1" "" + "cerebrospinal fluid rhinorrhea" "Discharge of cerebrospinal fluid through the nose. Common etiologies include trauma, neoplasms, and prior surgery, although the condition may occur spontaneously. (Otolaryngol Head Neck Surg 1997 Apr;116(4):442-9)" "" + "cerebrospinal fluid leak" "Discharge of cerebrospinal fluid through a hole through the skull bone most commonly draining from the nose (CEREBROSPINAL FLUID RHINORRHEA) or the ear (CEREBROSPINAL FLUID OTORRHEA)." "" + "congenital disorder of glycosylation with defective fucosylation 1" "" + "congenital disorder of glycosylation with defective fucosylation" "" + "chlamydiaceae infections" "Infections with bacteria of the family CHLAMYDIACEAE." "" + "congenital disorder of glycosylation with defective fucosylation 2" "" + "cone-rod dystrophy and hearing loss 1" "" + "cartilage development disorder" "Any dysfunction in the growth of cartilage." "" + "cone-rod dystrophy and hearing loss 2" "" + "encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1" "" + "chronic gingivitis" "Chronic painless inflammation of the gums. It is characterized by erythema and edema of the gums and bleeding while brushing the teeth." "" + "capillary malformation-arteriovenous malformation 1" "" + "obsolete short sleep, familial natural, 1" "" "true" + "capillary malformation-arteriovenous malformation 2" "" + "obsolete short sleep, familial natural, 2" "" "true" + "hypomagnesemia, seizures, and intellectual disability 1" "" + "hypomagnesemia, seizures, and intellectual disability 2" "" + "pseudo-TORCH syndrome 1" "" + "gaze palsy, familial horizontal, with progressive scoliosis 1" "" + "corneal dystrophy, Meesmann, 1" "" + "dwarfism with tall vertebrae" "" + "oculopharyngodistal myopathy 1" "" + "oculopharyngodistal myopathy" "Oculopharyngodistal myopathy (OPDM) is a rare, adult-onset hereditary muscle disease. People with OPDM present with progressive eye and throat (pharyngeal) problems and involvement of the muscles of the lower legs and arms. Symptoms may include eyelid drooping (ptosis), swallowing difficulty, hoarse and nasal voice, leg and arm weakness, as well as muscle wasting in the face and in the legs and arms. Many people have respiratory problems due to respiratory muscle weakness. In rare cases, there is also hearing loss, as well as severe weakness in muscles of the forearms and thighs. As the disease progresses, other muscles may be affected. A blood exam may show an increased creatine kinase level and an abnormal EMG. Inheritance may be autosomal dominant or autosomal recessive. The specific cause is still unknown." "" + "Silver-Russell syndrome 5" "" + "Silver-Russell syndrome 1" "" + "decompression sickness" "A condition occurring as a result of exposure to a rapid fall in ambient pressure. Gases, nitrogen in particular, come out of solution and form bubbles in body fluid and blood. These gas bubbles accumulate in joint spaces and the peripheral circulation impairing tissue oxygenation causing disorientation, severe pain, and potentially death." "" + "hypoparathyroidism, familial isolated, 2" "" + "basal cell neoplasm" "A neoplastic proliferation of basal cells in the epidermis (part of the skin) or other anatomic sites (most frequently the salivary glands). The basal cell neoplastic proliferation in the epidermis results in basal cell carcinomas. The basal cell neoplastic proliferation in the salivary glands can be benign, resulting in basal cell adenomas or malignant, resulting in basal cell adenocarcinomas." "" + "demyelinating disease of central nervous system" "Any condition in which there is degeneration of the myelin sheath that covers the nerves of the central nervous system." "" + "rectal medullary carcinoma" "A rare, invasive rectal adenocarcinoma characterized by the presence of sheets of malignant epithelial cells with vesicular nuclei, prominent nucleoli, and abundant eosinophilic cytoplasm. It usually has a favorable prognosis." "" + "obsolete basal cell cancer" "A neoplasm composed of basal cells that metastasizes to other anatomic sites." "" "true" + "obsolete bundle branch block" "A defect of the bundle branches or fascicles in the electrical conduction system of the heart." "" "true" + "benign basal cell neoplasm" "A neoplasm composed of basal cells that remains localized and does not metastasize to other anatomic sites." "" + "sinoatrial block" "A heart block that is initiated in the sinoatrial node." "" + "ovarian sertoli-stromal cell tumor" "A sex cord-stromal tumor that arises from the ovary and is composed entirely of, or in various combinations of, Sertoli cells, Leydig cells, and fibroblast-like cells." "" + "testicular sertoli cell tumor" "A sex cord-stromal tumor that arises from the testis and is characterized by the presence of neoplastic cells with features of Sertoli cells. It usually presents as a slow growing testicular mass. The vast majority of cases follow a benign clinical course." "" + "benign sertoli cell tumor" "A Sertoli cell tumor of the testis or the ovary which remains localized and does not metastasize to another anatomic site." "" + "sex cord-stromal benign neoplasm" "A reproductive organ benign neoplasm that arises in the ovary or testis and that is composed of granulosa cells, Leydig cells, Sertoli cells, and/or fibroblasts." "" + "obsolete congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome" "" "true" + "exposure, dental pulp" "The result of pathological changes in the hard tissue of a tooth caused by carious lesions, mechanical factors, or trauma, which render the pulp susceptible to bacterial invasion from the external environment." "" + "benign testicular sertoli cell tumor" "A non-metastasizing sex cord-stromal tumor that arises from the testis. Morphologically, it is characterized by the presence of Sertoli cells forming tubules. Leydig cells are rare or absent." "" + "benign neoplasm of testis" "A benign neoplasm that involves the testis." "" + "miliaria alba" "" + "dentigerous cyst" "Most common follicular odontogenic cyst. Occurs in relation to a partially erupted or unerupted tooth with at least the crown of the tooth to which the cyst is attached protruding into the cystic cavity. May give rise to an ameloblastoma and, in rare instances, undergo malignant transformation." "" + "miliaria papulosa" "" + "miliaria vesiculosa" "" + "secondary dentine" "Dentin formed by normal pulp after completion of root end formation." "" + "distal arthrogryposis type 2B1" "" + "infantile miliaria" "" + "diaphragmitis" "" + "congenital vertebral-cardiac-renal anomalies syndrome" "" + "methemoglobinemia, alpha type" "" + "oocyte maturation defect 5" "" + "anterior nasal diphtheria" "Infection of the anterior nasal structures by Corynebacterium diphtheriae." "" + "pulmonary alveolar proteinosis with hypogammaglobulinemia" "" + "neurodevelopmental disorder with cerebellar atrophy and with or without seizures" "" + "obsolete medullary carcinoma" "Medullary carcinoma may refer to one of several different tumors of epithelial origin. As the term 'medulla' is a generic anatomic descriptor for the mid-layer of various organ tissues, a medullary tumor usually arises from the 'mid-layer tissues' of the relevant organ." "" "true" + "pseudomembranous diphtheritic conjunctivitis" "Pseudomembranous colitis resulting from infection by Corynebacterium diphtheriae." "" + "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5" "" + "intellectual disability, autosomal recessive 64" "" + "intellectual disability, autosomal dominant 58" "" + "osteopetrosis, autosomal dominant 3" "" + "immunodeficiency 57" "" + "intellectual disability, autosomal recessive 65" "" + "spermatogenic failure 30" "" + "spermatogenic failure 31" "" + "encephalitis/encephalopathy, mild, with reversible myelin vacuolization" "" + "Liddle syndrome 2" "Any Liddle syndrome in which the cause of the disease is a mutation in the SCNN1G gene." "" + "spermatogenic failure 32" "" + "bone marrow failure syndrome 4" "" + "ovarian dysgenesis 7" "" + "mitochondrial complex 5 (ATP synthase) deficiency nuclear type 5" "" + "faucial diphtheria" "Infection of the fauces by Corynebacterium diphtheriae." "" + "laryngeal diphtheria" "Infection of the larynx by Corynebacterium diphtheriae." "" + "nasopharyngeal diphtheria" "Infection of the nasopharynx by Corynebacterium diphtheriae." "" + "obsolete name syndrome" "" "true" + "escherichia coli infection" "Infection with the organism Escherichia Coli." "" + "Mansonella ozzardi infection" "An infection that is caused by the organism Mansonella ozzardi." "" + "gonococcal urethritis" "Inflammation of the urethra secondary to infection with Neisseria gonorrhoeae; this infection is spread through sexual contact." "" + "laryngeal granuloma" "A tumor-like nodule or mass of inflammatory granulation tissue projecting into the lumen of the LARYNX." "" + "granulomatous prostatitis" "An infectious or non-infectious inflammatory process that affects the prostate gland. Infectious causative agents include bacteria, parasites, fungi, and viruses. It is characterized by the formation of granulomas in the prostatic tissue." "" + "pilosebaceous hamartoma" "A hamartoma characterized by localized pilosebaceous apparatus malformation." "" + "hair nevus" "A usually benign congenital skin growth that is often pigmented and sometimes develop coarse surface hair. There is a lifetime risk of transformation to malignant melanoma which varies depending on the size of the lesion." "" + "myocardial rupture" "Disease-related laceration or tearing of tissues of the heart, including the free-wall MYOCARDIUM; HEART SEPTUM; PAPILLARY MUSCLES; CHORDAE TENDINEAE; and any of the HEART VALVES. Pathological rupture usually results from myocardial infarction (HEART RUPTURE, POST-INFARCTION)." "" + "hereditary persistence of fetal hemoglobin" "The persistence of substantial fetal hemoglobin production into adulthood, usually associated with hemoglobinopathies due to mutations in the alpha and/or beta chain of hemoglobin." "" + "obsolete genetic chronic primary adrenal insufficiency" "" "true" + "hemochromatosis type 1" "Hemochromatosis type 1 (classic) is the most common form of hereditary hemochromatosis (HH), a group of diseases characterized by excessive tissue iron deposition. Due to its incidence (1/200-1/1000), it is not considered as a rare disease, unlike the other subforms of the disease" "" + "skin lymphangiosarcoma" "A malignant vascular neoplasm of the skin arising from the lymphatic vessels." "" + "hereditary progressive chorea without dementia" "" + "susceptibility to visceral leishmaniasis, 1" "" + "trichothiodystrophy 4, nonphotosensitive" "A subtype of trichothiodystrophy caused by mutation(s) in the MPLKIP gene, encoding M-phase-specific PLK1-interacting protein." "" + "autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)" "Autosomal dominant limb-girdle muscular dystrophy type 1D (LGMD1D) is a subtype of autosomal dominant limb-girdle muscular dystrophy characterized by an adult-onset of slowly progressive, proximal pelvic girdle weakness, with none, or only minimal, shoulder girdle involvement, and absence of cardiac and respiratory symptoms. Mild to moderate elevated creatine kinase serum levels and gait abnormalities are frequently observed. LGMD1D is caused by heterozygous missense mutations in the DNAJB6 gene at chr. 7q36.3." "" + "X-linked recessive ocular albinism" "X-linked recessive ocular albinism (XLOA) is a rare disorder characterized by ocular hypopigmentation, foveal hypoplasia, nystagmus, photodysphoria, and reduced visual acuity in males." "" + "Crigler-Najjar syndrome type 1" "Crigler-Najjar syndrome type 1 (CNS1) is the most severe form of CNS, a hereditary disorder of hepatic bilirubin conjugation, characterized by severe neonatal unconjugated hyperbilirubinemia due to a complete absence of hepatic bilirubin glucuronosyltransferase (BGT)." "" + "craniodiaphyseal dysplasia, autosomal dominant" "" + "complete androgen insensitivity syndrome" "Complete androgen insensitivity syndrome (CAIS) is a form of androgen insensitivity syndrome (AIS), a disorder of sex development (DSD), characterized by the presence of female external genitalia in a 46,XY individual with normal testis development but undescended testes and unresponsiveness to age-appropriate levels of androgens." "" + "cirrhosis, familial, with antigenemia" "" + "herpes zoster with dermatitis of eyelid" "A form of herpes zoster infection characterized by dermatitis of the skin of the eyelid due to reactivation of latent virus associated with the ophthalmic branch of the trigeminal nerve." "" + "herpes zoster dermatitis" "Painful, localized rash caused by reactivation of latent varicella zoster virus residing in nerve cell bodies, with resulting infection of the skin in the region supplied by the affected nerve." "" + "alopecia-intellectual disability syndrome 1" "" + "obsolete genetic neurodegenerative disease with dementia" "An instance of neurodegenerative disease with dementia that is caused by a modification of the individual's genome." "" "true" + "obsolete Wilms tumor" "An embryonal neoplasm characterized by the presence of epithelial, mesenchymal, and blastema components. The vast majority of cases arise from the kidney. A small number of cases with morphologic features resembling Wilms tumor of the kidney have been reported arising from the ovary and the cervix." "" "true" + "benign mastocytoma" "A localized mast cell neoplasm without metastatic potential." "" + "obsolete hemophagocytic syndrome" "" "true" + "parasympathetic paraganglioma" "A benign or malignant, usually non-functioning, extra-adrenal paraganglioma that arises from paraganglia located along the parasympathetic nerves. Representative examples include aorticopulmonary, carotid body, jugulotympanic, and mediastinal paragangliomas." "" + "parasympathetic nervous system disorder" "A disease or disorder that involves the parasympathetic nervous system." "" + "familial adenomatous polyposis 1" "Any attenuated familial adenomatous polyposis in which the cause of the disease is a mutation in the APC gene." "" + "obsolete hereditary acrokeratotic poikiloderma of Kindler-Weary" "" "true" + "glomus jugulare neoplasm" "A neoplasm (disease) that involves the jugular body." "" + "anti-NMDA receptor encephalitis" "An autoimmune acute encephalitis caused by antibodies against the glutamate NMDA receptor. It usually affects females and in the majority of cases it is associated with the presence of a tumor, most commonly an ovarian teratoma. The presence of a tumor in patients with this form of encephalitis implies that the latter is a paraneoplastic syndrome. It is manifested with psychiatric symptoms and epileptic seizures. It is a potentially lethal disorder; however, it is usually reversible with the prompt removal of the tumor." "" + "congenital fibrosis of extraocular muscles type 1" "Any congenital fibrosis of extraocular muscles in which the cause of the disease is a mutation in the KIF21A gene." "" + "obsolete malignant granular cell myoblastoma" "" "true" + "lipid-rich breast carcinoma" "An invasive breast carcinoma characterized by the presence of cytoplasmic neutral lipids in the vast majority of the malignant cells." "" + "cranioectodermal dysplasia 1" "Any cranioectodermal dysplasia in which the cause of the disease is a mutation in the IFT122 gene." "" + "appendix L-cell glucagon-like peptide-producing neuroendocrine tumor" "A neuroendocrine tumor arising from the wall of the appendix, producing glucagon-like peptides. Morphologically, it is characterized by the presence of neoplastic cells forming tubular or trabecular patterns." "" + "obsolete collagen diseases" "Historically, a heterogeneous group of acute and chronic diseases, including rheumatoid arthritis, systemic lupus erythematosus, progressive systemic sclerosis, dermatomyositis, etc. This classification was based on the notion that 'collagen' was equivalent to 'connective tissue', but with the present recognition of the different types of collagen and the aggregates derived from them as distinct entities, the term 'collagen diseases' now pertains exclusively to those inherited conditions in which the primary defect is at the gene level and affects collagen biosynthesis, post-translational modification, or extracellular processing directly. (From Cecil Textbook of Medicine, 19th ed, p1494)" "" "true" + "alcoholic fatty liver disease" "Lipid infiltration of the hepatic parenchymal cells that is due to alcohol abuse. The fatty changes in the alcoholic fatty liver may be reversible, depending on the amounts of triglycerides accumulated." "" + "NAFLD1" "" + "luminal B breast carcinoma" "A biologic subset of breast carcinoma defined by low to moderate expression of genes characteristic of luminal epithelial cells including estrogen receptor (ER), and high expression of GGH, LAPTM4B, and CCNE1. This subtype of breast cancer is associated with a good prognosis, although not as favorable as the luminal A subtype." "" + "luminal A breast carcinoma" "A biologic subset of breast carcinoma defined by high expression of genes characteristic of luminal epithelial cells, including estrogen receptor (ER), estrogen regulated protein LIV-1, and the transcription factors hepatocyte nuclear factor 3, HNF3A, XBP1, and GATA 3. This subtype of breast cancer is associated with a good prognosis." "" + "obsolete small cell neuroendocrine carcinoma" "" "true" + "syndromic or isolated" "An characteristic of a disease that varies depending on whether the disease appears as an isolated feature or whether the disease is a syndrome consisting of multiple features." "" + "disorder of sphingolipid biosynthesis" "An acquired metabolic disease that is has its basis in the disruption of sphingolipid biosynthetic process." "" + "frontal lobe ependymal tumor" "An ependymal tumor affecting the frontal lobe of the brain." "" + "tertiary hyperparathyroidism" "An overproduction of parathyroid hormone that is autonomous and often associated with chronic secondary hyperparathyroidism." "" + "acquired factor XIII deficiency" "An acquired coagulation disorder due to reduced levels and activity of factor XIII." "" + "acquired factor X deficiency" "An bleeding disorder with a decreased antigen and/or activity of factor X (FX) that is acquired. Acquired factor X deficiency is a rare disorder, commonly associated with a preceding viral illness and a circulating FX inhibitor. Although multiple treatment modalities have been described with variable success, in many cases, it is a self-limited condition." "" + "rare or common" "" + "congenital or acquired" "" + "genetic vs non-genetic etiology" "" + "obsolete genetic characteristic" "" "true" + "non-genetic" "" + "obsolete genetic and acquired" "" "true" + "obsolete amyotonia congenita" "" "true" + "Timothy syndrome type 1 (disorder)" "Classic form of Timothy syndrome, includes all features of generic." "" + "Timothy syndrome type 2 (disorder)" "Atypical form of Timothy syndrome, causes a more severe form of long QT syndrome and a greater risk of arrhythmia and sudden death." "" + "herpetic vulvovaginitis" "Infection of the vulva and the vagina caused by herpes simplex virus." "" + "autoimmune hepatitis type 2" "Autoimmune hepatitis characterized by the presence of anti-liver kidney microsomal antibody type 1 (anti-LKM1) and/or anti-liver cytosol type 1 (anti-LC1) autoantibodies." "" + "autoimmune hepatitis type 3" "Autoimmune hepatitis characterized by the presence of antibodies to soluble liver or liver-pancreas antigens." "" + "acquired xanthinuria" "Acquired xanthinuria is generally iatrogenic. Allopurinol treatment, administered to block XOR and prevent uric acid overproduction, leads to the accumulation of xanthine. Rarely, in the setting of aggressive chemotherapy with rapid tumor lysis or in patients with HPRT deficiency on allopurinol therapy, complications of renal failure can develop from xanthine crystal nephropathy." "" + "HTLV-2 infection" "" + "obsolete hemangiopericytoma" "" "true" + "obsolete disease by subcellular system affected" "A grouping of diseases based on molecular activity, cellular process or subcellular component." "" "true" + "obsolete disease by cellular process disrupted" "" "true" + "obsolete disease by molecular activity disrupted" "" "true" + "obsolete disease by cellular component affected" "" "true" + "obsolete rare genetic disease" "True" "true" + "obsolete rare disease" "Any of the forms of disease that have a rare incidence." "True" "true" + "" "true" + "" "true" + "" "true" + "" "true" + "" "true" + "" "true" + "" "true" + "" "true" + "neoplasm of major salivary gland" "A neoplasm (disease) that involves the major salivary gland." "" + "obsolete renal pelvis neoplasm" "" "true" + "obsolete lung hilum neoplasm" "" "true" + "" "true" + "" "true" + "leiomyoma of ciliary body" "A leiomyoma that involves the ciliary body." "" + "benign neoplasm of ciliary body" "A benign neoplasm that involves the ciliary body." "" + "papilloma of eyelid" "A papilloma that involves the eyelid." "" + "papilloma of buccal mucosa" "A papilloma that involves the buccal mucosa." "" + "benign neoplasm of buccal mucosa" "A benign neoplasm that involves the buccal mucosa." "" + "" "true" + "mucoepidermoid carcinoma of submandibular gland" "A mucoepidermoid carcinoma that involves the submandibular gland." "" + "mucoepidermoid carcinoma of parotid gland" "A mucoepidermoid carcinoma that involves the parotid gland." "" + "cavernous hemangioma of retina" "A cavernous hemangioma that involves the retina." "" + "malignant teratoma of testis" "A malignant teratoma that involves the testis." "" + "malignant teratoma of mediastinum" "A malignant teratoma that involves the mediastinum." "" + "carcinoma in situ of ureter" "A in situ carcinoma that involves the ureter." "" + "carcinoma in situ of urethra" "A in situ carcinoma that involves the urethra." "" + "" "true" + "carcinoma in situ of epiglottis" "A in situ carcinoma that involves the epiglottis." "" + "carcinoma in situ of hypopharynx" "A in situ carcinoma that involves the hypopharynx." "" + "carcinoma in situ of cecum" "A in situ carcinoma that involves the caecum." "" + "carcinoma in situ of appendix" "A in situ carcinoma that involves the vermiform appendix." "" + "carcinoma in situ of fundus of stomach" "A in situ carcinoma that involves the fundus of stomach." "" + "carcinoma in situ of gastric body" "A in situ carcinoma that involves the body of stomach." "" + "carcinoma in situ of gastric cardia" "A in situ carcinoma that involves the cardia of stomach." "" + "carcinoma in situ of renal pelvis" "A in situ carcinoma that involves the renal pelvis." "" + "carcinoma in situ of nasopharynx" "A in situ carcinoma that involves the nasopharynx." "" + "carcinoma in situ of oropharynx" "A in situ carcinoma that involves the oropharynx." "" + "oropharyngeal carcinoma" "Carcinoma, predominantly squamous cell, arising from the epithelial cells of the oropharynx." "" + "carcinoma in situ of extrahepatic bile duct" "A in situ carcinoma that involves the extrahepatic bile duct." "" + "adenoid cystic carcinoma of oropharynx" "A adenoid cystic carcinoma that involves the oropharynx." "" + "adenoma of nipple" "A adenoma that involves the nipple." "" + "" "true" + "malignant tumor of minor salivary gland" "A cancer that involves the minor salivary gland." "" + "neoplasm of minor salivary gland" "A neoplasm (disease) that involves the minor salivary gland." "" + "cancer of cerebellum" "A cancer that involves the cerebellum." "" + "malignant tumor of floor of mouth" "A cancer that involves the mouth floor." "" + "neoplasm of floor of mouth" "A neoplasm (disease) that involves the mouth floor." "" + "malignant neoplasm of abdominal esophagus" "A cancer that involves the abdominal part of esophagus." "" + "malignant neoplasm of thoracic esophagus" "A cancer that involves the thoracic part of esophagus." "" + "malignant neoplasm of cervical esophagus" "A cancer that involves the cervical part of esophagus." "" + "carcinoma of soft palate" "A carcinoma that arises from the soft palate. The majority are squamous cell carcinomas." "" + "immunoproliferative disorder" "Disorders characterized by abnormal proliferation of primary cells of the immune system or by excessive production of immunoglobulins." "" + "carcinoma of hard palate" "A carcinoma that involves the hard palate." "" + "intertrigo" "A superficial dermatitis occurring on skin surfaces in contact with each other, such as the axillae, neck creases, intergluteal fold, between the toes, etc. Obesity is a predisposing factor. The condition is caused by moisture and friction and is characterized by erythema, maceration, burning, and exudation." "" + "" "true" + "" "true" + "leukemia, myeloid, accelerated-phase" "The phase of chronic myeloid leukemia following the chronic phase (leukemia, myeloid, chronic-phase), where there are increased systemic symptoms, worsening cytopenias, and refractory leukocytosis." "" + "" "true" + "hypertrophic lichen planus" "A form of lichen planus that is characterized by plaques of markedly thickened skin that is often extremely pruritic and localized to the lower legs. It can result in permanent pigmentation and scarring." "" + "neoplasm of aortic body" "A benign or malignant extra-adrenal parasympathetic paraganglioma that arises from paraganglia adjacent to the base of the heart and great vessels." "" + "polyp of ureter" "A polyp that involves the ureter." "" + "polyp of vagina" "A polyp that involves the vagina." "" + "polyp of external auditory canal" "A polyp that involves the external acoustic meatus." "" + "polyp of sphenoidal sinus" "A polyp that involves the sphenoidal sinus." "" + "polyp of frontal sinus" "A polyp that involves the frontal sinus." "" + "polyp of maxillary sinus" "A polyp that involves the maxillary sinus." "" + "polyp of ethmoidal sinus" "A polyp that involves the ethmoid sinus." "" + "polyp of vocal cord" "A non-neoplastic polypoid swelling of the vocal cord mucosa. It is usually unilateral and caused by excessive use of the voice." "" + "carcinoid tumors, intestina" "True" + "" "true" + "hemangiopericytoma of skin" "A hemangiopericytoma that involves the zone of skin." "" + "squamous cell carcinoma of lip" "A squamous cell carcinoma that involves the lip." "" + "squamous cell carcinoma of floor of mouth" "A squamous cell carcinoma that involves the mouth floor." "" + "squamous cell carcinoma of buccal mucosa" "A squamous cell carcinoma that involves the buccal mucosa." "" + "" "true" + "" "true" + "" "true" + "lipoma of stomach" "A lipoma that involves the stomach." "" + "benign neoplasm of pituitary gland" "A benign neoplasm that involves the pituitary gland." "" + "benign neoplasm of exocrine pancreas" "A benign neoplasm that involves the exocrine pancreas." "" + "benign neoplasm of pancreas" "A benign neoplasm that involves the pancreas." "" + "benign neoplasm of lymph node" "A benign neoplasm that involves the lymph node." "" + "benign neoplasm of epiglottis" "A benign neoplasm that involves the epiglottis." "" + "benign neoplasm of hypopharynx" "A benign neoplasm that involves the hypopharynx." "" + "" "true" + "benign neoplasm of retina" "A benign neoplasm that involves the retina." "" + "benign neoplasm of neck" "A benign neoplasm that involves the neck." "" + "benign neoplasm of sternum" "A benign neoplasm that involves the sternum." "" + "benign neoplasm of penis" "A benign neoplasm that involves the penis." "" + "benign neoplasm of pharynx" "A benign neoplasm that involves the pharynx." "" + "benign neoplasm of cecum" "A benign neoplasm that involves the caecum." "" + "" "true" + "benign neoplasm of endometrium" "A benign neoplasm that involves the endometrium." "" + "benign neoplasm of tongue" "A benign neoplasm that involves the tongue." "" + "benign neoplasm of nasopharynx" "A benign neoplasm that involves the nasopharynx." "" + "benign neoplasm of oropharynx" "A benign neoplasm that involves the oropharynx." "" + "benign neoplasm of soft palate" "A benign neoplasm that involves the soft palate." "" + "benign neoplasm of submandibular gland" "A benign neoplasm that involves the submandibular gland." "" + "benign neoplasm of major salivary gland" "A benign neoplasm that involves the major salivary gland." "" + "benign neoplasm of iris" "A benign neoplasm that involves the iris." "" + "benign neoplasm of choroid" "A benign neoplasm that involves the optic choroid." "" + "benign neoplasm of lacrimal gland" "A benign neoplasm that involves the lacrimal gland." "" + "benign neoplasm of sebaceous gland" "A benign neoplasm that involves the sebaceous gland." "" + "benign neoplasm of gum" "A benign neoplasm that involves the gingiva." "" + "benign neoplasm of minor salivary gland" "A benign neoplasm that involves the minor salivary gland." "" + "benign neoplasm of parotid gland" "A benign neoplasm that involves the parotid gland." "" + "benign neoplasm of sublingual gland" "A benign neoplasm that involves the sublingual gland." "" + "benign neoplasm of lip" "A benign neoplasm that involves the lip." "" + "" "true" + "benign neoplasm of endocardium" "A benign neoplasm that involves the endocardium." "" + "benign neoplasm of myocardium" "A benign neoplasm that involves the myocardium." "" + "benign neoplasm of tonsil" "A benign neoplasm that involves the tonsil." "" + "benign neoplasm of glottis" "A benign neoplasm that involves the glottis." "" + "benign neoplasm of hard palate" "A benign neoplasm that involves the hard palate." "" + "benign neoplasm of floor of mouth" "A benign neoplasm that involves the mouth floor." "" + "benign neoplasm of male breast" "A non-metastasizing neoplasm that arises from the breast parenchyma in males." "" + "fibroma of lung" "A fibroma that involves the lung." "" + "fibroma of prostate" "A fibroma that involves the prostate gland." "" + "rectal neuroendocrine tumor G1" "A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the rectum. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent." "" + "pancreatic neuroendocrine tumor G1" "A low grade well differentiated tumor with neuroendocrine differentiation that arises from the pancreas. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal or less than 2%." "" + "" "true" + "undifferentiated carcinoma of nasopharynx" "A undifferentiated carcinoma that involves the nasopharynx." "" + "verrucous carcinoma of oral cavity" "A verrucous carcinoma that involves the oral cavity." "" + "hamartoma of lung" "A hamartoma (disease) that involves the lung." "" + "hemangioma of choroid" "A hemangioma that involves the optic choroid." "" + "hemangioma of gingiva" "A hemangioma that involves the gingiva." "" + "" "true" + "amelogenesis imperfecta type 3B" "" + "total early-onset cataract" "" + "transverse myelitis" "" + "" "true" + "Emery-Dreifuss muscular dystrophy 2, autosomal dominant" "Emery-Dreifuss muscular dystrophy inherited in an autosomal dominant pattern and caused by mutations in the LMNA gene." "" + "obsolete Hauptmann-Thannhauser muscular dystrophy" "" "true" + "multiple sclerosis, susceptibility to 1" "" + "oocyte maturation defect 2" "Any inherited oocyte maturation defect in which the cause of the disease is a mutation in the TUBB8 gene." "" + "oocyte maturation defect 3" "" + "oocyte maturation defect 4" "" + "fallopian tube endometrioid tumor" "A benign, borderline, or malignant epithelial tumor of the fallopian tube that is characterized by the presence of glands and/or cysts lined by neoplastic cells that resemble endometrial cells." "" + "malignant mediastinal neural neoplasm" "" + "eyelid sebaceous gland carcinoma" "A sebaceous gland carcinoma affecting the eyelid. It arises from the meibomian glands, glands of Zeis, or glands associated with the caruncle. It usually affects elderly women and is characterized by high rate of local recurrence, regional, and distant metastases." "" + "eyelid seborrheic keratosis" "A seborrheic keratosis that involves the eyelid." "" + "eyelid capillary hemangioma" "A capillary hemangioma arising from the eyelid." "" + "obsolete lacrimal system disease" "" "true" + "primary brain neoplasm" "" + "vulval varices" "A varicose disease that involves the mammalian vulva." "" + "mesenteric varices" "A varicose disease that involves the mesentery." "" + "esophageal varices without bleeding" "" + "esophageal varices with bleeding" "" + "diffuse cutaneous mucinosis" "" + "deep seated dermatophytosis" "A deep folliculitis due to a cutaneous dermatophyte infection, usually on the legs. It is most commonly caused by trichophyton rubrum and is characterized by the formation of spongy granulomas which persist for three to four months and leaves deep scars." "" + "cervical aortic arch" "" + "obsolete Refsum disease" "A rare autosomal recessive condition caused by mutation(s) in the PHYH gene, encoding phytanoyl-CoA dioxygenase, peroxisomal. It is characterized by abnormalities in the breakdown of phytanic acid and impaired growth of myelin sheaths. Signs and symptoms include neurologic damage, cerebellar degeneration, and neuropathy." "" "true" + "obsolete disorder involving pain" "" "true" + "obsolete transmissible disease" "OBSOLETE A disease that can be transmitted from one organism to another, typically but not always by an infectious process." "" "true" + "obsolete infectious disease of central nervous system" "" "true" + "alcohol amnestic disorder" "A mental disorder associated with chronic ethanol abuse (ALCOHOLISM) and nutritional deficiencies characterized by short term memory loss, confabulations, and disturbances of attention. (Adams et al., Principles of Neurology, 6th ed, p1139)" "" + "polyneuritis" "Inflammation of several peripheral nerves." "" + "obsolete fetal alcohol spectrum disorders" "" "true" + "vulvodynia" "Vulvodynia is a chronic pain syndrome that affects the vulvar area and occurs without an identifiable cause. Symptoms typically include a feeling of burning or irritation. For the diagnosis to be made symptoms must last at least 3 months." "" + "obsolete Abderhalden-Kaufmann-Lignac syndrome" "" "true" + "abdominal cystic lymphangioma" "Abdominal cystic lymphangioma is a benign (noncancerous) malformation of the lymphatic vessels in the abdomen. These vessels carry lymph, a fluid that contains white blood cells that fight infection, throughout the body. The severity of the condition and the associated features vary from person to person. When present, signs and symptoms may include abdominal pain, an increase in waist circumference, an abdominal mass, intestinal obstruction, and/or volvulus (a twisting of the intestines). The cause of abdominal cystic lymphangioma is poorly understood; however, scientists suspect that it is a congenital anomaly. Most cases are diagnosed in people with no family history of the condition. Treatment varies based on the severity of the condition. People with small malformations that do not cause any symptoms may simply be followed with regular imaging studies to monitor for progression. Some of these cases may resolve spontaneously without treatment. When necessary, surgical excision is often the treatment of choice since it is associated with the lowest risk of recurrence.." "" + "aberrant subclavian artery" "Aberrant subclavian artery is a rare vascular anomaly that is present from birth. It usually causes no symptoms and is oftendiscovered as an incidental finding (such as througha barium swallow or echocardiogram). Occasionally the anomaly causes swallowing difficulty (dysphagia lusoria). Swallowing symptoms in childrenmay present asfeeding difficulty and/or recurrent respiratory tract infection. When aberrant subclavian artery causes no symptoms, treatment is not needed. If the anomaly is causing significant symptoms, treatment may involve surgery. Children with symptomatic aberrant subclavian artery should be carefully evaluated for additional vascular and heart anomalies.." "" + "proctosigmoiditis" "Inflammation of the sigmoid colon and rectum." "" + "proctocolitis" "Inflammation of the rectum and colon." "" + "prurigo" "A name applied to several itchy skin eruptions of unknown cause. The characteristic course is the formation of a dome-shaped papule with a small transient vesicle on top, followed by crusting over or lichenification. (From Dorland, 27th ed)" "" + "puerperal infection" "An infection occurring in puerperium, the period of 6-8 weeks after giving birth." "" + "psychosocial short stature" "A growth disorder that is observed between the ages of 2 and 15, caused by extreme emotional deprivation or stress." "" + "pyelocystitis" "" + "pyonephrosis" "Pus within the collecting system of the kidney." "" + "Achard-Thiers syndrome" "Achard–Thiers syndrome combines the features of adrenogenital syndrome and Cushing syndrome. It occurs mainly in post-menopausal women" "" + "acquired agranulocytosis" "Agranulocytosis that is autoimmune in origin." "" + "acquired fructose intolerance" "Acquired fructose intolerance is a condition in which the body can not properly absorb the sugar, fructose. As a result, affected people may experience gastrointestinal symptoms, such as gas, abdominal pain, bloating and/or diarrhea, depending on the quantity of fructose consumed and the presence of other sugars ingested with it. Gastrointestinal symptoms related to acquired fructose intolerance appear to be more common in people who have an underlying functional bowel disorder such as irritable bowel syndrome. The underlying cause of the condition is poorly understood. It is distinct from the rare, genetic form of fructose intolerance (called hereditary fructose intolerance), which usually develops earlier in life and often affects more than one family member. Acquired fructose intolerance is generally managed with dietary modifications." "" + "acral dysostosis dyserythropoiesis syndrome" "An erythrocytic disorder that is characterized by macrocytosis and megaloblastic changes of the bone marrow cells, with additional morphological defects of hands and feet." "" + "acrocoxomesomelic dysplasia" "A severe, dysmorphic condition is characterized by shortening of median and distal segments of the limbs without anomalies of the spine." "" + "acrofacial dysostosis preis type" "Acrofacial dysostosis with pre-and postaxial involvement; a postaxial defect of the right, and a preaxial defect of the left hand. This is an n-of-1 use case where only one patient or family has been described with this disorder." "" + "radiculitis" "An inflammatory process affecting a nerve root. Patients experience pain radiating along a nerve path because of spinal pressure on the nerve root that connects to the nerve path." "" + "acute rheumatic heart disease" "Pancarditis, involving inflammation of the endocardium, myocardium, and epicardium. It results from an autoimmune reaction following an infection with Streptococcus pyogenes (Group A Streptococci)." "" + "streptococcal sore throat" "Inflammation of the throat due to Streptococcus pyogenes." "" + "silicotuberculosis" "Tuberculosis caused by the infection of Mycobacterium tuberculosis in patients with silicosis (that is caused by inhalation of silica dust particles). The risk of a patient with silicosis developing pulmonary tuberculosis and extra-pulmonary tuberculosis is higher than in healthy population." "" + "acromesomelic dysplasia, Campailla Martinelli type" "" + "acute cholinergic dysautonomia" "A primary dysautonomia characterized by hypohidrosis and selective parasympathetic peripheral autonomic nerve disturbances of acute onset." "" + "primary dysautonomia" "Disorders of the autonomic nervous system occurring as a primary condition. Manifestations can involve any or all body systems but commonly affect the blood pressure and heart rate." "" + "dysautonomia" "An acute or chronic disorder, affecting the sympathetic or parasympathetic nervous system. It can be primary, the result of central nervous system degeneration, or secondary due to diabetes or alcoholism. Patients with the chronic form of this disorder usually have a progressive clinical course and a poor prognosis." "" + "acute mountain sickness" "Acute mountain sickness is characterized by altitude sickness that affects otherwise healthy persons, develops within hours after arriving at altitude, and results in functional impairment from symptoms that may include headache, anorexia, nausea, vomiting, dizziness, fatigue, and sleep disturbances." "" + "adnexal spiradenoma/cylindroma of a sweat gland" "A benign sweat gland neoplasm usually occurring in the scalp or the face. It may present as solitary or multiple papular or nodular lesions. It may be a sporadic lesion or part of Brooke-Spiegler syndrome. It arises from the dermis and has a multinodular, circumscribed appearance. The nodules contain basaloid cells with small, dark nuclei. Complete excision is usually curative." "" + "adult progressive spinal muscular atrophy, Aran Duchenne type" "A progressive muscle weakness and atrophy of the limbs that irregularly affects certain muscles, while it spares others." "" + "aerobic Actinomyces infection" "Infection with the less common aerobic antinomyces bacteria." "" + "agnathia-microstomia-synotia" "" + "Akaba Hayasaka syndrome" "A syndrome characterized by frontal bossing, cloudy corneae, low nasal ridge, and micrognathia, hypoplastic thorax, and rhizomelic micromelia." "" + "Aksu von Stockhausen syndrome" "A syndrome characterized by a malformations of the neck due to a branchial arch defect. In the neonatal period the following signs were noted: symmetrical preauricular pits, retroauricular additional rudimentary auricles, a blindly ending coccygeal groove, microstomia and papillomata of the hypopharynx. This is an n-of-1 use case where only one patient or family has been described with this disorder." "" + "Al Gazali Khidr Prem Chandran syndrome" "A disease characterized by cherubism (disorder characterized by abnormal bone tissue in the lower part of the face. Beginning in early childhood, both the lower jaw (the mandible) and the upper jaw (the maxilla) become enlarged as bone is replaced with painless, cyst-like growths.), visual impairment due to optic atrophy and short stature. This is an n-of-1 use case where only one patient or family has been described with this disorder." "" + "Aloi Tomasini Isaia syndrome" "A syndrome characterized by a unilateral linear basal cell nevus, diffuse osteoma cutis, unilateral anodontia (missing teeth), and abnormal bone mineralization. This is an n-of-1 use case where only one patient or family has been described with this disorder." "" + "alopecia macular degeneration growth retardation syndrome" "" + "alopecia universalis onychodystrophy vitiligo" "A syndrome characterized by total alopecia (hair loss), total vitíligo, and nail changes. The nail changes consist of fine pitting, associated with softness, and friability and may include horizontal splitting. The vitiligo is characterized by complete, rapid uniform loss of pigment which occurrs without going through a patchy state. The entire cutaneous surface is light and translucent-appearing and is prone to burning on exposure to the sun." "" + "Alsing syndrome" "An autosomal recessive, oculo-reno-skeletal syndrome characterized by bilateral atypical macular coloboma, familial juvenile nephronophthisis and mesomelic skeletal dysplasia of upper limbs with bilateral radiohumeral fusion." "" + "small cell variant anaplastic large cell lymphoma" "A histologic variant of anaplastic large cell lymphoma characterized by the presence of a predominant population of small to medium size malignant cells with irregular nuclei." "" + "temporomandibular joint dysfunction syndrome" "A common disorder noted with jaw movement. It may be caused by malocclusion, repetitive use injury, trauma or arthritis. It is more prevalent among females between their second and fourth decades. Clinical signs include preauricular pain, temporomandibular joint clicking (as the mandibular condyle slips from the articulation made with the capsular disc and temporal bone) and restriction of jaw motion. Clinical course is typically benign but may progress to associated headaches, ear and neck pain, tinnitus and dislocation of temporomandibular joint. Prognosis is favorable as a majority of cases will respond to conservative management." "" + "anterior spinal artery stroke" "" + "aortopulmonary window" "A rare, congenital anomaly in the aorta in which a communication exists between the ascending aorta and the pulmonary artery." "" + "apert-like polydactyly syndrome" "" + "aplasia cutis autosomal recessive" "Aplasia cutis with autosomal recessive inheritance." "" + "aplasia cutis congenita dominant" "Aplasia cutis congenita with with autosomal dominant inheritance with reduced penetrance." "" + "obsolete aplasia cutis congenita recessive" "" "true" + "obsolete aplasia cutis myopia" "" "true" + "aquagenic pruritus" "Aquagenic pruritus is a conditionin which contact with water of any temperature causes intense itching, without any visible skin changes. The symptoms may begin immediately after contact and can last for an hour or more. The cause of aquagenic pruritus is unknown; however, familial cases have been described. It may be a symptom of polycythemia vera or another underlying condition. Overall, treatment is a challenge. Antihistamines, UVB phototherapy, PUVA therapy and various medications have been tried with varying degrees of success." "" + "arakawa syndrome 2" "A rare autosomal dominant inherited metabolic disorder characterized by deficiency of the enzyme tetrahydrofolate-methyltransferase. It results in the abnormal metabolism of methylcobalamin. Signs and symptoms include mental retardation, megaloblastic anemia, hypotonia, epilepsy, and hepatosplenomegaly." "" + "arena syndrome" "" + "Arnold stickler bourne syndrome" "" + "Arroyo Garcia Cimadevilla syndrome" "A syndrome characterized by bilateral anophthalmia (absence of one or both eyes), esophageal atresia (the upper esophagus ends and does not connect with the lower esophagus and stomach), and cryptorchidism (a condition in which one or both of the testes fail to descend from the abdomen into the scrotum). This is an n-of-1 use case where only one patient or family has been described with this disorder." "" + "arthrogryposis epileptic seizures migrational brain disorder" "" + "traumatic myositis ossificans" "Myositis Ossificans resulting from trauma." "" + "infection by Trypanosoma gambiense" "Trypanosomiasis caused by infection by Trypanosoma brucei gambiense." "" + "aspergillus niger infection" "A infectious disease involving the Aspergillus niger." "" + "obsolete Asrar Facharzt Haque syndrome" "" "true" + "infection by Trypanosoma rhodesiense" "An infection with Trypanosoma brucei rhodesiense." "" + "tuberculoma" "A tumor-like mass resulting from the enlargement of a tuberculous lesion." "" + "cutaneous tuberculosis" "" + "autoimmune oophoritis" "Autoimmune oophoritis is a rare cause of primary ovarian insufficiency (POI). It happens when the body's immune system mistakenly attacks the ovaries causing inflammation, atrophy and fibrosis. These changes stop the ovaries from working normally. The main symptoms of autoimmune oophorotis are irregular or absent menstrual period (amenorrhea) and symptoms related to ovarian cysts such as abdominal cramping, bloating, nausea and vomiting. Autoimmune oophoritis may occur as part of autoimmune polyglandular syndrome type I and type II but has also been associated with lupus, pernicious anemia, myasthenia gravis and other autoimmune conditions. The underlying cause of autoimmune oophoritis is unknown. Diagnosis involves a special blood test which looks for anti-steroid or anti-ovarian antibodies, a pelvic ultrasound to look for enlarged cystic ovaries and tests to rule out other possible causes of POI. Management of autoimmune oophoritis involves emotional support, possible estrogen replacement therapy and management of other autoimmune conditions." "" + "autoimmune progesterone dermatitis" "Autoimmune progesterone dermatitis (APD) is primarily characterized by a recurrent skin rash that varies in severity depending on the phase of the menstrual cycle. The rash generally appears during the second half of the cycle when levels of the hormone, progesterone, begin to rise and it subsides shortly after menstruation. Although the exact underlying cause of APD is not well understood, it is thought to involve an abnormal immune reaction (autoimmune response) triggered by a woman's own progesterone. Depending on the severity of the condition, treatment may include topical (applied to the skin) medications, systemic corticosteroids, hormone therapy to suppress the production of progesterone, and/or surgical removal of the ovaries." "" + "tuberculous fibrosis of lung" "Scarring of the lung parenchyma caused by pulmonary tuberculosis." "" + "autosomal recessive nonsyndromic congenital nuclear cataract" "" + "ureteritis" "An acute or chronic inflammatory process affecting the ureter." "" + "baetz-greenwalt syndrome" "" + "bagatelle Cassidy syndrome" "" + "baker Vinters syndrome" "A very rare syndrome characterized by craniosynostosis (premature fusion of skull bones), hydrocephalus (an abnormal increase of cerebrospinal fluid in the ventricles of the brain) and abnormal development of the channel or duct in the middle of the brain that connects the third and fourth ventricles. This is an n-of-1 use case where only one patient or family has been described with this disorder." "" + "Banti syndrome" "A syndrome characterized by hypochromic anemia with leukopenia, splenomegaly, late onset hepatic cirrhosis and death from gastric hemorrhages." "" + "obsolete Baraitser Rodeck garner syndrome" "" "true" + "basaloid follicular hamartoma" "A type of pilosebaceous hamartoma characterized by basal cell epitheliomata, epidermoid cysts and comedones, and epidermal atrophy." "" + "Basaran Yilmaz syndrome" "A congenital hypotrichosis that is characterized by trichorrhexis nodosa and trichoptilosis, dry skin, keratosis pilaris and leukonychia totalis. Other features include progressive transgrediens type of palmoplantar keratoderma, and hyperkeratotic lesions on the knees, elbows and perianal region." "" + "Berk-Tabatznik syndrome" "" + "water intoxication" "A condition resulting from the excessive retention of water with sodium depletion." "" + "bobble-head doll syndrome" "Bobble-head doll syndrome (BHDS) is a rare neurological condition thatis typically first seen in childhood. The signs and symptoms of BHDS includecharacteristic up and downhead movements that increase during walking and excitement and decrease during concentration.Although the specific cause of this condition is unknown, BHDS is often seen with cysts in the third ventricle of the brain that alsocause hydrocephalus (water on the brain). Treatment for BHDS may involve surgical removal of the cyst causing the condition or using a shunt to drain excess water on the brain." "" + "Boerhaave syndrome" "A syndrome characterized by spontaneous longitudinal transmural rupture of the esophagus, usually in its distal part." "" + "Borrone di Rocco Crovato syndrome" "" + "Boudhina Yedes Khiari syndrome" "Familial syndrome combining short stature, microcephaly, mental deficiency, seizures, hearing loss, and skin lesions" "" + "bowenoid papulosis" "Dysplastic papular lesions presenting on the genitalia of either sex. The lesions are associated with human papillomavirus infection. The majority of cases have a benign clinical course, although, a small number of cases with malignant transformation have been reported." "" + "boylan dew greco syndrome" "" + "large-cell immunoblastic lymphoma" "Malignant lymphoma characterized by the presence of immunoblasts with uniformly round-to-oval nuclei, one or more prominent nucleoli, and abundant cytoplasm. This class may be subdivided into plasmacytoid and clear-cell types based on cytoplasmic characteristics. A third category, pleomorphous, may be analogous to some of the peripheral T-cell lymphomas (LYMPHOMA, T-CELL, PERIPHERAL) recorded in both the United States and Japan." "" + "Calabro syndrome" "" + "calcifying epithelial odontogenic tumor" "A slow growing, locally invasive neoplasm arising from tooth-forming tissues. It most often grows intraosseously in the mandible and less frequently in the maxilla. In a minority of cases it grows extraosseously in the gingiva. It is characterized by the presence of a fibrous stroma, epithelial cells with abundant eosinophilic cytoplasm, and amyloid material which is often calcified. Small tumors may be successfully treated with enucleation. Local resection is usually required for larger tumors. Recurrences have been reported in a minority of cases." "" + "calloso-genital dysplasia" "" + "Cantu sanchez-corona fragoso syndrome" "" + "Cantu sanchez-corona hernandez syndrome" "Mild mental deficiency, short stature, macrocranium, cardiac anomalies, cutis laxa, peculiar facies, wrinkled palms and soles, small vertebral bodies" "" + "carbon baby syndrome" "Carbon baby syndrome, also known as universal acquired melanosis, is a rare form of hyperpigmentation. The skin of affected infants progressively darkens over the first years of life in the absence of other symptoms. The cause of the condition is unknown." "" + "Carnevale hernandez castillo syndrome" "" + "Cartwright Nelson Fryns syndrome" "" + "pyogenic granuloma" "A disorder of the skin, the oral mucosa, and the gingiva, that usually presents as a solitary polypoid capillary hemangioma often resulting from trauma. It is manifested as an inflammatory response with similar characteristics to those of a granuloma." "" + "catamenial pneumothorax" "Catamenial pneumothorax is an extremely rare condition that affects women. Pneumothorax is the medical term for a collapsed lung, a condition in which air or gas is trapped in the space surrounding the lungs causing the lungs to collapse. Women with catamenial pneumothorax have recurrent episodes of pneumothorax that occur within 72 hours before or after the start of menstruation. The exact cause of catamenial pneumothorax is unknown and several theories have been proposed. Many cases are associated with the abnormal development of endometrial tissue outside of the uterus (endometriosis). Some believe that catamenial pneumothorax is the most common form of thoracic endometriosis (a condition in which the endometrial tissue grows in or around the lungs). A diagnosis of catamenial pneumothorax is usually suspected when a woman of reproductive age and with endometriosis has episodes of pneumothorax.Treatment is with hormones and surgery." "" + "chronic prostatitis" "An infectious or non-infectious chronic inflammatory process that affects the prostate gland." "" + "catatrichy" "True" + "central centrifugal cicatricial alopecia" "" + "Charles bonnet syndrome" "Charles Bonnet syndrome (CBS) refers to the presenceof visual hallucinations in individuals with visual acuity loss without havingpsychosis or dementia. The condition is likely caused by the brain continuing to interpret images, even in their absence. Underlying conditions of vision loss associated with Charles Bonnet syndrome are diverse (including conditions such as macular degeneration and stroke) and may affect the eye, optic nerve, or brain. Hallucinations often resolve if the underlying vision deficit is corrected and can also remit in some individuals with static or progressive vision loss. Treatment is individualized." "" + "obsolete Chiari malformation type II" "" "true" + "Chitty Hall Webb syndrome" "" + "chromhidrosis" "A rare condition characterized by the secretion of colored sweat, caused by the deposition of lipofuscin in the sweat glands. Usually chromhidrosis affects the apocrine glands, mainly on the face and underarms." "" + "partial duplication of chromosome 13" "" + "chromosome 13q-mosaicism" "" + "chronic erosive gastritis" "" + "obsolete treatment for disease" "" "true" + "obsolete has treatment by surgery" "" "true" + "locational disease characteristic" "" + "pustular psoriasis" "" + "crystal arthropathy" "" + "Parinaud syndrome" "A rare syndrome affecting conjugate vertical eye movement. It is often caused by a dorsal midbrain neoplasm, commonly a pinealoma, but may also be attributable to demyelinating diseases or stroke. Clinical signs include limitation of upward gaze, light-near dissociation of the pupillary response, eyelid retraction (Collier's sign) and convergence-retraction nystagmus. Clinical course is dependent on effective treatment of underlying cause." "" + "colpocephaly" "Colpocephaly is a congenital brain abnormality in which the occipital horns - the posterior or rear portion of the lateral ventricles (cavities) of the brain - are larger than normal because white matter in the posterior cerebrum has failed to develop or thicken." "" + "obsolete congenital hepatic fibrosis" "" "true" + "" "true" + "" "true" + "vascular disorder of penis" "A non-neoplastic or neoplastic disorder that affects the blood vessels of the penis. Representative examples include atherosclerosis, venous leak, and hemangioma." "" + "corticobasal degeneration disorder" "A progressive neurodegenerative condition affecting the cerebral cortex and basal ganglia. The disorder is characterized by varying degrees of cognitive and motor impairment." "" + "cote katsantoni syndrome" "" + "obsolete Hernandez Aguirre-Negrete syndrome" "" "true" + "hair defect with photosensitivity and intellectual disability syndrome" "Syndrome with the association of stubby, coarse, sparse and fragile hair, eyebrows and eyelashes with photosensitivity and nonprogressive intellectual deficit, without a demonstrable metabolic aberration. It has been described in three sisters born to consanguineous parents." "" + "2-methylacetoacetyl CoA thiolase deficiency" "" + "2-hydroxyethyl methacrylate sensitization" "" + "" "true" + "4-hydroxyphenylacetic aciduria" "" + "5-nucleotidase syndrome" "" + "AIDS dysmorphic syndrome" "" + "ALK+ histiocytosis" "" + "congenital absence of septum pellucidum" "The absence of the septum pellucidum is a rare condition that affects the structure of the brain. Specifically, a thin membrane called the septum pellucidum is missing from its normal position in the middle of the brain. When it is missing, symptoms may include learning difficulties, behavioral changes, seizures, and changes in vision. Absence of the septum pellucidum is not typically seen as an isolated finding. Instead, absence of the septum pellucidum is associated with other conditions such as septo-optic dysplasia. Treatment options for the condition vary depending on the underlying disorder. Diagnosis of absence of the septum pellucidum can be made through imaging such as an MRI. Symptoms of absence of the septum pellucidum typically present during childhood, but a diagnosis can also be made before an individual is born (prenatally). If an individual is found to be missing the septum pellucidum, a search for an underlying disorder should be made." "" + "congenital acardia" "" + "acute lymphoblastic leukemia congenital sporadic aniridia" "A disease characterized by acute lymphoblastic leukemia with the presence of congenital sporadic aniridia, the absence of an iris, where neither parent has aniridia." "" + "retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene" "" + "aglossia and situs inversus" "A disease characterized by complete absence of tongue that can also be associated with limb deformities, syndromes and aberrant positioning of the visceral organs." "" + "retinal ciliopathy due to mutation in the RPGR gene" "" + "retinal ciliopathy due to mutation in the rpgrip gene" "" + "agyria pachygyria polymicrogyria" "Cortical malformations characterized by no gyri, broad gyri and/or an excessive number of abnormally small gyri that result in an irregular cortical surface with lumpy aspect." "" + "agyria-pachygyria type 1" "A disorder of neuronal migration that is characterized by abnormal cortex morphology, with pathological features including a variably decreased brain size, enlarged ventricles representing a stage of fetal development rather than hydrocephalus, heterotopia of the inferior olivary bodies that lie between the corpus pontobulbare and their normal location, aberrant or absent corticospinal tract, heterotopia of cerebellar granules and abnormally shaped dentate nuclei." "" + "Ahumada Del Castillo syndrome" "A syndrome characterized by galactorrhea and amenorrhea with symptoms of estrogenic insufficiency and absence of urinary gonadotropins." "" + "retinal ciliopathy due to mutation in usher gene" "" + "retinal ciliopathy due to mutation in nephronophthisis gene" "" + "obsolete aksu von stockhausen syndrome" "" "true" + "retinal ciliopathy due to mutation in bardet-biedl gene" "" + "obsolete albinism immunodeficiency" "" "true" + "Albright-like syndrome" "" + "allain-babin-demarquez syndrome" "" + "alopecia congenita keratosis palmoplantaris" "" + "obsolete alopecia immunodeficiency" "" "true" + "obsolete alpha-2 deficient collagen disease" "" "true" + "alpha-mannosidosis type 1" "" + "alpha-thalassemia-abnormal morphogenesis" "" + "aluminosis" "Aluminosis is characterized as diffuse interstitial fibrosis which is mainly located in the upper and middle lobes of the lung. In advanced stages it is characterized by subpleural bullous emphysema with an increased risk of spontaneous pneumothorax." "" + "persistent fetal circulation syndrome" "A cardiopulmonary disorder characterized by systemic arterial hypoxemia secondary to pulmonary hypertension and extrapulmonary right to left shunting across the foramen ovale and ductus arteriosus." "" + "alves Castelo dos Santos syndrome" "" + "obsolete amelia cleft lip palate hydrocephalus iris coloboma" "" "true" + "Mauriac syndrome" "A complication of poorly controlled type 1 diabetes mellitus in children characterized by linear growth impairment, glycogenic hepatopathy, and Cushingoid features." "" + "amyloidosis bronchopulmonary" "Amyloidosis with tracheobronchial deposits in diffuse plaques that can cause stenosis or parenchymal nodules or masses." "" + "obsolete amyloidosis nodular localized cutaneous" "" "true" + "obsolete amyoplasia mandibulofacial dysostosis" "" "true" + "angiomyomatous hamartoma" "An uncommon benign proliferation of smooth muscle, blood vessels, collagenous stroma, and adipocytes, most commonly affecting inguinal lymph node." "" + "angiosarcoma of the scalp" "Angiosarcoma of the scalp is a rare cancer which most commonly affects the elderly. This condition is characterized by bruise-like lesions that escalate to elevated, nodular, or ulcerated tumors. Extensive local growth is common and metastasis to regional lymph nodes and to the lungs may occur. The cause of angiosarcoma of the scalp is unknown, although several associations have been reported, including lymphedema, prior radiation treatment, and environmental exposures. Treatment may include surgery, radiation and chemotherapy." "" + "ankle defects short stature" "" + "ankyloblepharon filiforme imperforate anus" "" + "annular constricting bands" "A syndrome characterized by congenital constriction bands, often deformity of the nails with distally located bands, and commonly a malformation of the hand." "" + "obsolete anophthalmia cleft lip palate hypothalamic disorder" "" "true" + "anophthalmia cleft palate micrognathia" "A syndrome characterized by bilateral anophthalmos, hypospadias, bifid scrotum, micrognathia, and cleft palate with normal chromosomes." "" + "anophthalmia esophageal atresia cryptorchidism" "A syndrome characterized by bilateral anophthalmia, esophageal atresia, and cryptorchidism. This is an n-of-1 use case where only one patient or family has been described with this disorder." "" + "obsolete anophthalmia megalocornea cardiopathy skeletal anomalies" "" "true" + "obsolete anophthalmia microcephaly hypogonadism" "" "true" + "anotia facial palsy cardiac defect" "A syndrome characterized by anotia (congenital absence of the pinna) with a normal cochlea and vestibular apparatus, with facial paralysis caused by congenital absence of the entire right facial nerve, and congenital heart disease, which may present as atrioventricular septal defects or variations of tetralogy of Fallot." "" + "antigen-peptide-transporter 2 deficiency" "An inborn errors of metabolism disorder caused by homozygosity for mutations in the TAP2 gene. It is characterizeed by nonhealing, chronic, ulcerative granulomatous leg lesions combined with recurrent otitis media and sinopulmonary infections." "" + "obsolete aortic arches defect" "" "true" + "aortic dissection lentiginosis" "A syndrome characterized by arterial dissections, multiple lentigines, and cystic medial necrosis." "" + "childhood aortic valve stenosis" "" + "APO A-i deficiency" "" + "obsolete apolipoprotein C 2i deficiency" "" "true" + "obsolete arthritis short stature deafness" "" "true" + "arthrogryposis IUGR thoracic dystrophy" "A syndrome characterized by severe intrauterine growth retardation, psychomotor delay and recurrent infections, craniofacial dysostosis, a progeroid appearance, arthrogryposis and camptodactylia." "" + "arthrogryposis multiplex congenita CNS calcification" "A syndrome characterized by congenital contractures, scarce facial expressions, central nervous system dysfunction, and early death, as well as extensive deposits of calcium compounds in the nervous system and of skeletal muscle." "" + "arthrogryposis spinal muscular atrophy" "" + "asternia" "Asternia, also known as a complete congenital sternal cleft, is a condition in which a bone called thesternum does not form properly.The sternumusuallyconnects to the ribs to form the ribcage. Individuals with asternia are missing this bone and may appear to have a rut or trench under the skin in the middle of the chest. Most individuals with asternia have no symptoms, though some may have difficulty breathing. Asternia is sometimes associated with other conditions, such as heart problems. The cause of asternia is currently unknown. Treatment consists of surgery to close the gap between the ribs." "" + "atlanto-axial fusion" "" + "obsolete atrial septal defect coronary sinus" "" "true" + "atrophoderma of Pierini and Pasini" "Atrophoderma of Pierini and Pasini is thought to possibly represent a late stage of morphea a type of localized scleroderma. Signs and symptoms ofatrophoderma of Pierini and Pasini include multiple oval, darkened (hyperpigmented) plaques in which tissue under the skin breaks downso that there is a depression (dent) within the skin. Some findings suggest that atrophoderma of Pierini and Pasini may be associated with B burgdorferi, a bacteria that causesLyme disease, in some cases." "" + "autoimmune inner ear disease" "A syndrome characterized by rapidly progressive sensorineural hearing loss (SNHL), that is often bilateral, and is potentially reversible." "" + "BK-virus nephropathy" "" + "autonomic facial cephalgia" "" + "leukoplakia of gingiva" "A clinical term that indicates the presence of a white patch on the surface of the gum which cannot be characterized as any other disease. It may be a precancerous condition and in most cases histologic examination reveals keratosis." "" + "Barnicoat Baraitser syndrome" "" + "obsolete basal cell nevus anodontia abnormal bone mineralization" "" "true" + "Basedow's coma" "A polygenic and multifactorial disease that develops as a result of a complex interplay between genetic susceptibility and environmental and endogenous factors, which leads to the loss of immune tolerance to thyroid antigens and in particular to the TSH receptor." "" + "Bazopoulou Kyrkanidou syndrome" "" + "BD syndrome" "" + "Beardwell syndrome" "" + "oculo-cerebral dysplasia" "" + "behrens baumann dust syndrome" "" + "benign angiitis of the central nervous system" "A central nervous system vasculitis that has a benign course, with acute onset of neurologic symptoms, usually in the form of severe headache and/or a focal neurologic event." "" + "benign metastasizing leiomyoma" "A rare disorder that affects women with a history of uterine leiomyoma, which is found to metastasise within extrauterine sites.The disease develops as a proliferation of multiple nodules composed of smooth muscle cells.The most frequent site of metastasis is the lungs, although other areas may also be affected as well, including some atypical locations, e.g. the heart or spinal cord." "" + "obsolete BEST1 retinopathy" "" "true" + "bhaskar jagannathan syndrome" "" + "bidirectional tachycardia" "" + "bilateral renal agenesis dominant type" "" + "biliary atresia intrahepatic non syndromic form" "" + "biliary atresia intrahepatic syndromic form" "" + "biliary hypoplasia" "A syndromic disease characterised by a small ductal system and reduction in the number of interlobular bile ducts." "" + "bilirubin induced brain injury in the newborn" "" + "Billet bear syndrome" "A congenital malformation syndrome characterized by partial duplication of the left lower limb and aplasia of the ipsilateral kidney, plus other congenital malformations." "" + "childhood bladder carcinoma" "A rare carcinoma of the bladder that occurs during childhood." "" + "blepharo naso facial syndrome van Maldergem type" "A syndrome characterized by expressionless facies, thickened facial skin, telecanthus with blepharophimosis, lacrimal duct anomalies, unusual nasal shape, and mild excess interdigital webbing." "" + "bone dysplasia Moore type" "" + "bone dysplasia corpus callosum agenesis" "" + "brachydactyly absence of distal phalanges" "" + "brachydactyly anonychia" "" + "brachydactyly small stature face anomalies" "" + "brachydactyly tibial hypoplasia" "" + "obsolete brachymetapody anodontia hypotrichosis albinoidism" "" "true" + "extraovarian Brenner tumor of the vagina" "A Brenner tumor that involves the vagina." "" + "brittle bone syndrome lethal type" "" + "bronchial adenomas/carcinoids childhood" "" + "bronchiectasis oligospermia" "" + "Brunoni syndrome" "" + "Brunsting-Perry syndrome" "" + "bruyn scheltens syndrome" "" + "burn goodship syndrome" "" + "burning mouth syndrome type 3" "" + "CD4 deficiency" "" + "CDG syndrome type 4" "" + "CDK4 linked melanoma" "" + "camptodactyly joint contractures and facial skeletal dysplasia" "" + "camptodactyly vertebral fusion" "" + "candida glabrata infection" "" + "Cantu sanchez-corona Garcia-Cruz syndrome" "" + "childhood carcinoid tumor" "A rare carcinoid tumor that occurs during childhood." "" + "carcinoma of the vocal tract" "A carcinoma that involves the laryngeal vocal fold." "" + "cardiac hydatid cysts with intracavitary expansion" "" + "cardioencephalomyopathy" "" + "cardiofacial syndrome short limbs" "" + "cardiomelic syndrome stratton Koehler type" "" + "cardiomyopathy and deafness due to tRNA lysine gene mutation" "A specific change in the MTTK gene causes a condition characterized by weakened heart muscle (cardiomyopathy) and hearing loss. Affected individuals may also have myopathy and ataxia. This mutation replaces the DNA building block (nucleotide) guanine with the nucleotide adenine at position 8363 (written as G8363A) within the gene. It is unclear how this alteration in the MTTK gene results in cardiomyopathy, hearing loss, and other symptoms." "" + "cardiomyopathy diabetes deafness" "" + "obsolete cardiomyopathy dilated with conduction defect type 1" "" "true" + "obsolete cardiomyopathy dilated with conduction defect type 2" "" "true" + "cardiomyopathy due to anthracyclines" "" + "cardiomyopathy hypogonadism collagenoma syndrome" "" + "cardiomyopathy hypogonadism metabolic anomalies" "" + "cardiomyopathy spherocytosis" "" + "carpo tarsal osteolysis recessive" "" + "cassavism" "" + "autosomal dominant non-nuclear cataract" "" + "cataract skeletal anomalies" "" + "obsolete cataract - glaucoma" "" "true" + "cennamo gangemi syndrome" "" + "cerebellar agenesis" "" + "cerebello-olivary atrophy" "" + "cerebral calcification cerebellar hypoplasia" "" + "cerebral calcifications opalescent teeth phosphaturia" "" + "athetoid cerebral palsy" "A subtype of cerebral palsy characterized by involuntary, purposeless writhing movements which affect the hands, feet, arms, and legs; the face and tongue may be affected as well, leading to involuntary grimacing, drooling, dysarthria and difficulty eating." "" + "" "true" + "cerebral palsy spastic hemiplegic" "" + "cerebral palsy spastic monoplegic" "" + "oculo digital syndrome" "" + "chester porphyria" "Chester porphyria is a unique type of porphyria with the signs and symptoms of acute intermittent porphyria (AIP) and the biochemical defects of both AIP and variegate porphyria (VP). Chester porphyria does not conform to any of the recognized types of acute porphyria. The symptoms associated with Chester porphyria are similar to those observed in other acute porphyrias. Treatment is symptomatic." "" + "Chiari malformation type 3" "" + "Chiari malformation type 4" "" + "obsolete chondrodysplasia lethal recessive" "" "true" + "" "true" + "chondrodysplasia punctata with steroid sulfatase deficiency" "" + "obsolete chorea minor" "" "true" + "choreoacanthocytosis amyotrophic" "" + "chorioretinopathy dominant form microcephaly" "" + "choroid plexus cyst" "" + "choroideremia hypopituitarism" "This is an X-linked recessive retinal degenerative disease that leads to degeneration of the choriocapillaris, the retinal pigment epithelium, and the photoreceptor of the eye. Hypopituitarism is the decreased (hypo) secretion of one or more of the eight hormones normally produced by the pituitary gland at the base of the brain." "" + "Christian demyer franken syndrome" "" + "Christian Johnson angenieta syndrome" "" + "occupational asthma" "Asthma attacks caused, triggered, or exacerbated by OCCUPATIONAL EXPOSURE." "" + "mixed dust pneumoconiosis" "" + "chromosome 13p duplication" "" + "non-neoplastic nevus" "A abnormal, congenital formation or mark on the skin or neighboring mucosa that does not show neoplastic growth." "" + "chromosome 18 mosaic monosomy" "" + "chromosome 22, monosome mosaic" "" + "chromosome 3 duplication syndrome" "" + "chronic demyelinizing neuropathy with IgM monoclonal" "" + "chronic polyradiculoneuritis" "" + "ciliary dyskinesia-bronchiectasis" "" + "circumscribed cutaneous aplasia of the vertex" "" + "circumscribed disseminated keratosis Jadassohn lew type" "" + "classic Kaposi sarcoma" "A vascular sarcoma that commonly occurs in the lower extremities. It occurs predominantly in elderly male patients of southern European ancestry. It is characterized by the presence of purple, red-blue, or dark brown macular lesions, plaques and nodules. This disease is usually slow growing, although it can spread to the lungs and the gastrointestinal tract. If necessary, cutaneous lesions can be treated with radiation." "" + "cleft lip and palate malrotation cardiopathy" "" + "cleft lip and/or palate with mucous cysts of lower" "" + "cleft lip palate dysmorphism kumar type" "" + "cleft lip palate intellectual disability corneal opacity" "" + "cleft lip palate oligodontia syndactyly pili torti" "" + "cleft lip palate pituitary deficiency" "" + "cleft lip palate-tetraphocomelia" "" + "cleft lower lip cleft lateral canthi chorioretinal" "" + "cleft palate cardiac defect ectrodactyly" "" + "cleft palate colobomata radial synostosis deafness" "" + "cleft palate heart disease polydactyly absent tibia" "" + "cleft tongue" "" + "coarse face hypotonia constipation" "" + "coccygodynia" "Coccygodynia is a rare condition in that causes pain in and around the coccyx (tailbone). Although various causes have been described for the condition, the more commoncausesare direct falls and injury." "" + "chromosome 8 deletion" "A structural cytogenetic abnormality characterized by partial or complete loss of chromosome 8." "True" + "deficiency of coenzyme q cytochrome c reductase" "" + "Cohen lockood wyborney syndrome" "" + "cold urticaria" "Cold urticaria is a condition that affects the skin. Signs and symptoms generally include reddish, itchy welts (hives) and/or swelling when skin is exposed to the cold (i.e. cold weather or swimming in cold water). This rash is usually apparent within 2-5 minutes after exposure and can last for 1-2 hours. The exact cause of cold urticaria is poorly understood in most cases. Rarely, it may be associated with an underlying blood condition or infectious disease. Treatment generally consists of patient education, avoiding exposures that may trigger a reaction, and/or medications." "" + "Collins-Sakati syndrome" "" + "coloboma porencephaly hydronephrosis" "" + "colobomata unilobar lung heart defect" "" + "colonic malakoplakia" "" + "" "true" + "Colver Steer Godman syndrome" "" + "Combarros Calleja Leno syndrome" "" + "complement receptor deficiency" "A disorder with basis in disruption of a complement receptor." "" + "congenital absence of the sternocleidomastoid muscle" "" + "congenital amputation" "" + "congenital aneurysms of the great vessels" "" + "congenital arteriovenous shunt" "" + "congenital articular rigidity" "" + "congenital benign spinal muscular atrophy dominant" "" + "congenital cardiovascular shunt" "" + "congenital contractures" "" + "congenital craniosynostosis maternal hyperthyroiditis" "" + "congenital cystic eye" "" + "congenital cystic eye multiple ocular and intracranial anomalies" "" + "congenital heart disease ptosis hypodontia craniostosis" "" + "congenital heart disease radio ulnar synostosis intellectual disability" "" + "congenital human immunodeficiency virus" "" + "congenital hypotrichosis milia" "" + "congenital mumps" "" + "congenital nonhemolytic jaundice" "" + "congenital stenosis of cervical medullary canal" "" + "obsolete congenital sucrose isomaltose malabsorption" "" "true" + "Dennis-Fairhurst-Moore syndrome" "A severe form of Hallermann-Streiff syndrome, observed in one family. This is an n-of-1 use case where only one patient or family has been described with this disorder." "" + "congenital unilateral pulmonary hypoplasia" "" + "congenital vagal hyperreflexivity" "" + "" "true" + "obsolete continuous muscle fiber activity hereditary" "" "true" + "continuous spike-wave during slow sleep syndrome" "" + "cor biloculare" "A congenital anatomic anomaly in which the heart has only two chambers." "" + "cormier rustin munnich syndrome" "" + "corneal crystals myopathy neuropathy" "" + "corneal dystrophy ichthyosis microcephaly intellectual disability" "" + "corneal dystrophy pigmentary anomaly malabsorption" "" + "coronary arteries congenital malformation" "" + "corpus callosum agenesis of blepharophimosis robin type" "" + "corpus callosum dysgenesis X-linked recessive" "" + "corpus callosum dysgenesis cleft spasm" "" + "corpus callosum dysgenesis hypopituitarism" "" + "cortada Koussef Matsumoto syndrome" "" + "Cortes Lacassie syndrome" "" + "corticobasal degeneration" "" + "craniofacial and skeletal defects" "" + "craniofacial dysostosis arthrogryposis progeroid appearence" "" + "" "true" + "craniofrontonasal syndrome Teebi type" "" + "craniostenosis cataract" "" + "craniostenosis with congenital heart disease intellectual disability" "" + "craniosynostosis Fontaine type" "" + "craniosynostosis Maroteaux Fonfria type" "" + "craniosynostosis alopecia brain defect" "" + "craniosynostosis arthrogryposis cleft palate" "" + "craniosynostosis autosomal dominant" "" + "craniosynostosis cleft lip palate arthrogryposis" "" + "craniosynostosis contractures cleft" "" + "craniosynostosis exostoses nevus epibulbar dermoid" "" + "craniosynostosis intellectual disability heart defects" "" + "crawfurd syndrome" "" + "athyreotic congenital hypothyroidism" "Congenital hypothyroidism in which fetal deficiency was severe because of complete absence (athyreosis) of the gland. Physical features may include a larger anterior fontanel, persistence of a posterior fontanel, an umbilical hernia, and a large tongue (macroglossia)" "" + "Crohn disease of the esophagus" "An Crohn disease involving a pathogenic inflammatory response in the esophagus." "" + "cutaneous sclerosis" "" + "cutis gyratum acanthosis nigricans craniosynostosis" "" + "cutis laxa osteoporosis" "" + "cutis verticis gyrata mental deficiency" "" + "cutler bass Romshe syndrome" "" + "cystic hygroma lethal cleft palate" "" + "obsolete cytokine deficiency" "A disease that has its basis in the disruption of cytokine activity." "" "true" + "cytokine receptor deficiency" "A disease that has its basis in the disruption of cytokine receptor activity." "" + "obsolete short stature-microcephaly-heart defect syndrome" "" "true" + "daentl towsend Siegel syndrome" "" + "Dandy-Walker malformation with nasopharyngeal teratoma and diaphragmatic hernia" "" + "Davenport-Donlan syndrome" "An n-of-1 disease characterized by hearing loss, almost white hair, a psoriasiform rash with hyperkaratotic papillomata, muscle contractures, and depressed granulocyte and monocyte chemotaxis, dominant hearing loss, white hair, contractures, hyperkeratotic papillomata, and muscle contractures, and depressed granulocyte and monocyte chemotaxis. This is an n-of-1 use case where only one patient or family has been described with this disorder." "" + "Davis Lafer syndrome" "" + "de Hauwere Leroy adriaenssens syndrome" "" + "deafness conductive stapedial ear malformation facial palsy" "" + "deafness goiter stippled epiphyses" "" + "obsolete deafness hyperuricemia neurologic ataxia" "" "true" + "obsolete deafness hyperuricemia neurologic ataxia" "" "true" + "deafness hypospadias metacarpal and metatarsal syndrome" "" + "deafness mesenteric diverticula of small bowel neuropathy" "" + "deafness peripheral neuropathy arterial disease" "" + "deafness progressive cataract autosomal dominant" "" + "Deal Barratt Dillon syndrome" "" + "defective apolipoprotein b-100" "" + "delta-1-pyrroline-5-carboxylate dehydrogenase deficiency" "A disease that has its basis in the disruption of 1-pyrroline-5-carboxylate dehydrogenase activity." "" + "dermatocardioskeletal syndrome boronne type" "" + "desmoplastic infantile astrocytoma" "A WHO grade I large cystic tumor that occurs almost exclusively in infants, with a prominent desmoplastic stroma having a neuroepithelial population consisting mainly of neoplastic astrocytes. It involves the superficial cerebral cortex and leptomeninges, and often attaches to the dura. Although clinically it presents as large tumor, it generally has a good prognosis following surgical resection. (Adapted from WHO)" "" + "desmoplastic infantile ganglioglioma" "A WHO grade I large cystic tumor that occurs almost exclusively in infants, with a prominent desmoplastic stroma having a neuroepithelial population of neoplastic astrocytes together with a variable neuronal component. It involves the superficial cerebral cortex and leptomeninges, and often attaches to the dura. Although clinically it presents as a large tumor, it generally has a good prognosis following surgical resection. (Adapted from WHO)" "" + "dextrocardia with situs inversus" "Dextrocardia with situs inversus is a condition that is characterized by abnormal positioning of the heart and other internal organs. In people affected by dextrocardia, the tip of the heart points towards the right side of the chest instead of the left side. Situs inversus refers to the mirror-image reversal of the organs in the chest and abdominal cavity. Some affected people have no obvious signs or symptoms. However, a small percentage of people also have congenital heart defects, usually transposition of the great vessels. Dextrocardia with situs inversus can also be associated with primary ciliary dyskinesia (also known as Kartagener syndrome). Treatment typically depends on the heart or physical problems the person may have in addition to dextrocardia with situs inversus." "" + "diabetes persistent mullerian ducts" "" + "diabetic mastopathy" "Diabetic mastopathy are noncancerous lesions in the breast most commonly diagnosed in premenopausal women with type 1 diabetes. The cause of this condition is unknown. Symptoms may include hard, irregular, easily movable, discrete, painless breast mass(es)." "" + "diaphragmatic agenesis radial aplasia omphalocele" "" + "diaphragmatic hernia exomphalos corpus callosum agenesis" "" + "diaphragmatic hernia upper limb defects" "" + "die Smulders droog van dijk syndrome" "" + "die Smulders Vles Fryns syndrome" "" + "Dieterich disease" "" + "diffuse cavernous hemangioma of the rectum" "" + "diffuse idiopathic pulmonary neuroendocrine cell hyperplasia" "A very rare condition characterized by generalized proliferation of pulmonary neuroendocrine cells. It manifests as progressive cough and dyspnea. It is considered a precursor for pulmonary carcinoid tumor." "" + "diomedi bernardi placidi syndrome" "" + "diphallus rachischisis imperforate anus" "" + "diploid-triploid mosaicism" "Diploid-triploid mosaicism is a chromosome disorder. Individuals with diploid-triploid syndrome have some cells with three copies of each chromosome for a total of 69 chromosomes (called triploid cells) and some cells with the usual 2 copies of each chromosome for a total of 46 chromosomes (called diploid cells). Having two or more different cell types is called mosaicism. Diploid-triploid mosaicism can be associated withtruncal obesity, body/facial asymmetry, weak muscle tone (hypotonia), delays in growth,mild differences infacial features, fusion or webbing between some of the fingers and/or toes (syndactyly) and irregularities in the skin pigmentation. Intellectual disabilities may be present but are highly variable from person to person ranging from mild to more severe. The chromosome disorder is usually not present in the blood; a skin biopsy, or analyzing cells in the urine is needed to detect the triploid cells." "" + "dipsogenic diabetes insipidus" "Diabetes insipidus caused by excessive intake of water due to psychological factors or damage to the thirst-regulating mechanism." "" + "primary polydipsia" "A form of polydipsia characterised by excessive fluid intake in the absence of physiological stimuli to drink." "" + "distal arthrogryposis Moore weaver type" "" + "distichiasis heart congenital anomalies" "" + "dobrow syndrome" "" + "double discordia" "" + "double fingernail of fifth finger" "" + "double uterus-hemivagina-renal agenesis" "" + "doxorubicin induced cardiomyopathy" "" + "Drachtman Weinblatt Sitarz syndrome" "A rare genetic disorder, characterized by under-development of bone marrow and neurological disorders such as weakness on one side of the body, agenesis of corpus callosum and hydrocephalus." "" + "obsolete drachtman weinblatt sitarz syndrome" "" "true" + "Wilson-Mikity syndrome" "" + "Duker-Weiss-Siber syndrome" "" + "duodenal atresia tetralogy of fallot" "" + "duplication of leg mirror foot" "" + "duplication of the thumb unilateral biphalangeal" "" + "dupont sellier chochillon syndrome" "" + "dwarfism bluish sclerae" "" + "dwarfism deafness retinitis pigmentosa" "" + "dwarfism lethal type advanced bone age" "" + "dwarfism thin bones multiple fractures" "" + "neonatal dacryocystitis" "Inflammation of the lacrimal sac in a newborn due to blocked drainage of tears or infection." "" + "dysmorphism cleft palate loose skin" "" + "obsolete dysostosis acral with facial and genital abnormalities" "" "true" + "" "true" + "Eagle syndrome" "Eagle syndrome is characterized by recurrent pain in the middle part of the throat (oropharynx) and face. 'Classic Eagle syndrome' is typically seen in patients after throat trauma or tonsillectomy. Symptoms include dull and persistent throat pain that may radiate to the ear and worsen with rotation of the head. Other symptoms may include difficulty swallowing, feeling that there is something stuck in the throat, tinnitus, and neck or facial pain. A second form of Eagle syndrome unrelated to tonsillectomy causes compression of the vessel that carries blood to the brain, neck, and face (carotid artery). This form can cause headache. Eagle syndrome is due to a calcified stylohyoid ligament or an elongated styloid process. The styloid process is a pointed part of the temporal bone that serves as an anchor point for several muscles associated with the tongue and larynx. The mainstay treatment for Eagle syndrome is surgery to shorten the styloid process (styloidectomy). Medical management may include the use of pain and anti-inflammatory medications, antidepressants, and/or steroids. The overall success rate for treatment (medical or surgical) is about 80%." "" + "obsolete elongated styloid process syndrome" "" "true" + "eccentrochondrodysplasia" "" + "eccrine mucinous carcinoma" "" + "ectodermal dysplasia Bartalos type" "" + "ectodermal dysplasia Berlin type" "" + "ectodermal dysplasia margarita type" "" + "ectodermal dysplasia alopecia preaxial polydactyly" "" + "ectodermal dysplasia arthrogryposis diabetes mellitus" "" + "ectodermal dysplasia blindness" "" + "ectodermal dysplasia neurosensory deafness" "" + "ectrodactyly cardiopathy dysmorphism" "" + "obsolete ectrodactyly polydactyly" "" "true" + "klumpke's paralysis" "Klumpke paralysis is a type of brachial palsy in newborns. Signs and symptoms include weakness and loss of movement of the arm and hand. Some babies experience drooping of the eyelid on the opposite side of the face as well. This symptom may also be referred to as Horner syndrome. Klumpke paralysis is caused by an injury to the nerves of the brachial plexus which may result from a difficult delivery. This injury can cause a stretching (neuropraxia), tearing (called avulsion when the tear is at the spine, and rupture when it is not), or scarring (neuroma) of the brachial plexus nerves. Most infants with Klumpke paralysis have the more mild form of injury (neuropraxia) and often recover within 6 months." "" + "Elliott ludman Teebi syndrome" "" + "enamel hypoplasia cataract hydrocephaly" "" + "encephalocele anencephaly" "" + "obsolete encephalopathy recurrent of childhood" "" "true" + "enchondromatosis dwarfism deafness" "" + "endemic Kaposi sarcoma" "" + "engelhard yatziv syndrome" "" + "enlarged vestibular aqueduct syndrome" "" + "" "true" + "enterovirus antenatal infection" "" + "obsolete envenomization by Bothrops lanceolatus" "" "true" + "eosinophilic cryptitis" "Eosinophilic cystitis (EC) is a rare inflammatory bladder condition caused by the build up of eosinophils in the bladder. The exact cause of this condition is not known. However, EC has been found in those with allergies and asthma, and in those with a history of bladder trauma or infection, open bladder surgery, or surgery for a bladder tumor. EC has also been found in those who take certain medications." "" + "eosinophilic pustular folliculitis" "Eosinophilic pustular folliculitis (EPF) is a skin disorder characterized by recurring itchy, red or skin-colored bumps and pustules (bumps containing pus). The condition is named after the fact that skin biopsies of this disorder find eosinophils (a type of immune cell) around hair follicles. The papules mostly appear on the face, scalp, neck and trunk and may persist for weeks or months. EPF affects males more than females.There are several variants of EPF includingclassic eosinophilic pustular folliculitis (mainly occurring in adults in Japan); HIV-associated EPF, also referred to as immunosuppression-associated EPF; and infantile EPF (with onset from birth or within the first year of life). Whether these are distinct disorders rather than variants of one disorder is controversial, partly because the underlying cause of EFP is not known.Several treatments have been described with variable results, including various oral or topical medications and phototherapy. In patients with HIV-associated disease, antiretroviral therapy tends to greatly diminish symptoms or even eliminate the condition." "" + "epidermal nevus vitamin D resistant rickets" "" + "epimetaphyseal dysplasia cataract" "" + "epiphyseal dysplasia dysmorphism camptodactyly" "" + "erythroplakia" "A clinical term that refers to the presence of a red flat and well defined lesion on the oral mucosa that is not caused by trauma, vascular, or inflammatory processes. It is a precancerous condition and is seen more commonly in middle aged or older males. It is associated with tobacco and alcohol consumption. Microscopic examination reveals severe epithelial dysplasia, carcinoma in situ, or invasive squamous cell carcinoma." "" + "esophageal atresia coloboma talipes" "" + "exertional headache" "" + "exogenous ochronosis" "Exogenous ochronosis refers tothe bluish-black discoloration of certain tissues, such as the ear cartilage, the ocular (eye) tissue, and other body locations when it is due toexposure to various substances.It has been reported most commonly with topical application of hydroquinones to the skin. The discolorationmay becaused byan effect ontyrosinase(an enzyme located in melanocytes, which are skincells that produce pigment), or by inhibiting homogentisic acid oxidase, resulting in the accumulation and deposition of homogentisic acid (HGA) in cartilage. The discoloration is often permanent, but when exogenous ochronosis is caused by topical hydroquinones, carbon dioxide lasers and dermabrasion have been reported to be helpful. Exogenous ochronosis is different from hereditary ochronosis, which is an inherited condition that occurs with alkaptonuria." "" + "obsolete exostoses anetodermia brachydactyly type E" "" "true" + "extrasystoles short stature hyperpigmentation microcephaly" "" + "FRAXD syndrome" "" + "facial clefting corpus callosum agenesis" "" + "facio digito genital syndrome recessive form" "" + "facio skeletal genital syndrome rippberger type" "" + "Fairbank disease" "" + "familial capillaro-venous leptomeningeal angiomatosis" "" + "familial myelofibrosis" "" + "familial partial paralysis" "" + "familial pulmonary arterial hypertension leucopenia and atrial septal defect" "" + "Fara Chlupackova syndrome" "" + "Faye-Petersen-Ward-Carey syndrome" "" + "febrile ulceronecrotic mucha-habermann disease" "Febrile ulceronecrotic Mucha-Habermann disease (FUMHD) is a rare and severe form of pityriasis lichenoides et varioliformis acuta (PLEVA). PLEVA is characterized by skin lesions that ulcerate, breakdown, form open sores, then form a red-brown crust. FUMHD often begins as PLEVA, but then rapidly and suddenly progresses to large, destructive ulcers. There may be fever and extensive, painful loss of skin tissue as well as secondary infection of the ulcers. Diagnosis of FUMHD is confirmed by biopsy of skin lesions. FUMHD occurs more frequently in children, peaking at age 5 to 10. Males tend to be affected more often than females. While some cases of FUMHD have resolved without therapy, others have resulted in death. Early diagnosis and prompt treatment may help to reduce morbidity and death." "" + "acute lichenoid pityriasis" "" + "feigenbaum Bergeron syndrome" "" + "Feingold trainer syndrome" "" + "fenton Wilkinson Toselano syndrome" "" + "obsolete antihypertensive drugs antenatal exposure syndrome" "" "true" + "fetal brain disruption sequence" "" + "fetal enterovirus syndrome" "" + "fetal parainfluenza virus type 3 syndrome" "A syndrome caused by HPIV-3." "" + "parainfluenza virus type 3 infectious disease" "Parainfluenza virus type 3 is one of a group of common viruses known as human parainfluenza viruses (HPIV) that cause a variety of respiratory illnesses. Symptoms usually develop between 2 and 7 days from the time of exposure and typically resolve in 7-10 days. Symptoms may include fever, runny nose, and cough. HPIV-3 can also cause bronchiolitis, bronchitis, and pneumonia. Infants and young children are particularly susceptible to HPIV-3 infections, though older adults and those with a weakened immune system are also at risk for complications. HPIVs are usually spread from an infected person to others through coughing, sneezing, and/or touching. There is currently no vaccine to protect against parainfluenza virus infections. Most HPIV infections resolve on their own and do not require special treatment, though medical intervention may be necessary for severe breathing problems. Most adults have antibodies against parainfluenza but can get repeat infections." "" + "fetal phenothiazine syndrome" "" + "fibrocartilaginous embolism" "Fibrocartilaginous embolism (FCE) is a rare type of embolism (sudden blocking of an artery) that occurs in the spinal cord. FCE occurs when materials that are usually found within the vertebral disc of the spine enter into the nearby vascular system (veins and arteries) and block one of the spinal cord vessels. The signs and symptoms of FCE often develop after a minor or even unnoticed btriggering eventb such as lifting, straining, or falling. Symptoms of FCE may include neck and/or back pain, progressive muscle weakness, and paralysis.The exact underlying cause of FCE is poorly understood. Most cases occur sporadically in people with no family history of the disease. Diagnosis is based on imaging of the spinal cord and ruling out other causes of a blockage of the vascular system within the spinal cord. Treatment is generally focused on preventing possible complications and improving quality of life with medications and physical therapy." "" + "tuberculous ascites" "A type of abdominal tuberculosis that is characterized by accumulation of fluid in the abdomen, a swollen abdomen, and slightly raised tubercles of 1–2 mm all over the peritoneum." "" + "fibromatosis multiple non ossifying" "" + "fibula aplasia complex brachydactyly" "" + "obsolete fibular aplasia" "" "true" + "fibular hypoplasia scapulo pelvic dysplasia absent" "" + "Fitz-Hugh-Curtis syndrome" "Fitz-Hugh-Curtis syndrome (FHCS) is a condition in which a woman has swelling of the tissue covering the liver as a result of having pelvic inflammatory disease (PID). Symptoms most often include pain in the upper right abdomen just below the ribs, fever, nausea, or vomiting. The symptoms of pelvic inflammatory disease - pain in the lower abdomen and vaginal discharge -are oftenpresent as well. FHCS is usually caused by an infection of chlamydia or gonorrhea that leads to PID; it is not known why PIDprogresses toFHCS in some women. Fitz-Hugh-Curtis syndrome is treatedwith antibiotics." "" + "viral myocarditis" "Myocarditis that is caused by an infection with a viral agent." "" + "viral pericarditis" "Pericarditis that is caused by an infection with a viral agent." "" + "florid cystic endosalpingiosis of the uterus" "" + "focal alopecia congenital megalencephaly" "" + "focal or multifocal malformations in neuronal migration" "" + "foix chavany Marie syndrome" "Foix-Chavany-Marie syndrome (FCMS) is a cortico-subcortical suprabulbar or pseudobulbar palsy of the lower cranial nerves, characterized by severe dysarthria and dysphagia associated with bilateral central facio-pharyngo-glosso-masticatory paralysis, with prominent automatic-voluntary dissociation in which involuntary movements of the affected muscles are preserved." "" + "obsolete follicular lymphoreticuloma" "" "true" + "Fontaine farriaux blanckaert syndrome" "" + "formaldehyde poisoning" "" + "fragile X syndrome type 1" "" + "fragile X syndrome type 2" "" + "fragile X syndrome type 3" "" + "Franceschini Vardeu Guala syndrome" "" + "Fraser Jequier Chen syndrome" "" + "Freiberg disease" "Freiberg's disease is rare condition that primarily affects the second or third metatarsal (the long bones of the foot). Although people of all ages can be affected by this condition, Freiberg's disease is most commonly diagnosed during adolescence through the second decade of life. Common signs and symptoms include pain and stiffness in the front of the foot, which often leads to a limp. Affected people may also experience swelling, limited range of motion, and tenderness of the affected foot. Symptoms are generally triggered by weight-bearing activities, including walking. The exact underlying cause of Freiberg's disease is currently unknown. Treatment depends on many factors, including the severity of condition; the signs and symptoms present; and the age of the patient." "" + "obsolete Freire-Maia odontotrichomelic syndrome" "" "true" + "Friedman Goodman syndrome" "" + "frints de Smet Fabry Fryns syndrome" "" + "frontonasal malformation cloacal exstrophy" "" + "frontonasal dysplasia Klippel feil syndrome" "" + "frontonasal dysplasia phocomelic upper limbs" "" + "Fryns Fabry Remans syndrome" "" + "Fryns Smeets Thiry syndrome" "" + "Fuchs atrophia gyrata chorioideae et retinae" "" + "Fukuda-Miyanomae-Nakata syndrome" "" + "Fuqua Berkovitz syndrome" "" + "galactorrhoea-hyperprolactinaemia" "" + "" "true" + "Garret-Tripp syndrome" "" + "gas bloat syndrome" "" + "obsolete gastro-enteropancreatic neuroendocrine tumor" "" "true" + "Gaucher ichthyosis restrictive dermopathy" "" + "gershinibaruch Leibo syndrome" "" + "gestational diabetes insipidus" "A form of diabetes insipidus that manifests during pregnancy (or in some cases, after pregnancy). It is characterized by theappearance of a polyuric-polydipsic syndrome that resultsin fluid intake ranging from 3 to 20 L/day. It is also charac-terized by excretion of abnormally high volumes of dilutedurine. This polyuria is insipid, i.e., the urine concentrationof dissolved substances is very low." "" + "Ghose-Sachdev-Kumar syndrome" "" + "giant cell myocarditis" "An often fatal inflammatory disorder that affects the myocardium. Morphologically, it is characterized by the presence of an inflammatory infiltrate in the myocardial tissue that includes multinucleated giant cells. It is often associated with the presence of an autoimmune disorder. Patients present with arrhythmias and/or heart failure. Heart transplantation is the only treatment option available." "" + "giant congenital nevus" "A rare melanocytic lesion occurring at birth, comprising at least 5% of the body surface area. It usually presents as a dark brown to black hairy lesion. Morphologically, it is characterized by the presence of a compound or intradermal nevus. There is an increased risk of malignant transformation to melanoma, rhabdomyosarcoma, and poorly differentiated malignant tumors." "" + "giant mammary hamartoma" "" + "gigantism advanced bone age hoarse cry" "" + "glass-chapman-hockley syndrome" "The Glass-Chapman-Hockley syndrome is a very rare disease. To date, the syndrome has only been reported in one family with five members affected in three generations. The first patients were two brothers that had an abnormally-shaped head due to coronal craniosynostosis. Their mother, maternal aunt, and maternal grandmother were also found to have the syndrome. The signs and symptoms varied from person to person; however, the signs and symptoms included coronal craniosynostosis, small middle part of the face (midfacial hypoplasia), and short fingers (brachydactyly).The inheritance is thought to be autosomal dominant. No genes have been identified for this syndrome. Treatment included surgery to correct the craniosynostosis. No issues with development and normal intelligence were reported. This is an n-of-1 use case where only one patient or family has been described with this disorder." "" + "linear porokeratosis" "Linear porokeratosis is a rare skin condition characterized by streaks of reddish-brown patches surrounded by a ridge-like border.The patches usually develop in infants or young children, but they sometimes develop in adults." "" + "polyarticular juvenile rheumatoid arthritis" "" + "global disaccharide intolerance" "" + "glossopalatine ankylosis micrognathia ear anomalies" "" + "glyceraldehyde-3-phosphate dehydrogenase deficiency" "" + "goldstein hutt syndrome" "" + "goniodysgenesis intellectual disability short stature" "" + "pigmented dermatofibrosarcoma protuberans" "A morphologic variant of dermatofibrosarcoma protuberans characterized by the presence of melanin-pigmented dendritic cells." "" + "Graham-Boyle-Troxell syndrome" "Cystic hamartoma of lung and kidney is a rare developmental malformation reported in 3 patients characterized by the presence of benign hamartomatous cysts in kidney and lung, clinically presenting as abdominal mass. Others associated features include hyperplastic nephromegaly, medullary dysplasia and mesoblastic nephroma. There have been no further descriptions in the literature since 1987." "" + "granulomatous hypophysitis" "Granulomatous hypophysitis is rare pathology that mimics pituitary adenoma." "" + "graphite pneumoconiosis" "" + "green sandford davison syndrome" "" + "grix Blankenship Peterson syndrome" "" + "guttate psoriasis" "Guttate psoriasis is a skin condition in which small, red, and scaly teardrop-shaped spots appear on the arms, legs, and middle of the body.It is a relatively uncommon form of psoriasis. The condition often develops very suddenly, and is usually triggered by an infection (e.g., strep throat, bacteria infection, upper respiratory infections or other viral infections). Other triggers include injury to the skin, including cuts, burns, and insect bites, certain malarial and heart medications, stress, sunburn, and excessive alcohol consumption. Treatment depends on the severity of the symptoms, ranging from at-home over the counter remedies to medicines that suppress the body's immunesystem to sunlight and phototherapy." "" + "obsolete Hamanishi-Ueba-Tsuji syndrome" "" "true" + "heavy metal poisoning" "Heavy metal poisoning refers to when excessive exposure to a heavy metal affects the normal function of the body. Examples of heavy metals that can cause toxicity include lead, mercury, arsenic, cadmium, and chromium. Exposure may occur through the diet, from medications, from the environment, or in the course of work or play. Heavy metals can enter the body through the skin, or by inhalation or ingestion. Toxicity can result from sudden, severe exposure, or from chronic exposure over time. Symptoms can vary depending on the metal involved, the amount absorbed, and the age of the person exposed. For example, young children are more susceptible to the effects of lead exposure because they absorb more compared with adults and their brains are still developing. Nausea, vomiting, diarrhea, and abdominal pain are common symptoms of acute metal ingestion. Chronic exposure may cause various symptoms resulting from damage to body organs, and may increase the risk of cancer. Treatment depends on the circumstances of the exposure." "" + "obsolete hemiplegic migraine" "" "true" + "Ho-Kaufman-McAlister syndrome" "Cleft palate, micrognathia, Wormian bones, congenital heart disease, dislocated hips, absent tibiae, bowed fibulae, preaxial polydactyly of the feet" "" + "pityriasis rotunda" "Pityriasis rotunda is a rare skindisease characterized by round, scaly, pigmented patches that mainly occur on the trunk, arms and legs. There are two types of pityriasis rotunda." "" + "congenital candidiasis" "A fungal infection by any of the Candida species that is present at birth." "" + "chondrodysplasia situs inversus imperforate anus polydactyly" "" + "infectious myositis" "An infectious process affecting the skeletal muscles. It can be caused by viruses (including HIV), bacteria, fungi, and parasites. Symptoms include muscle weakness and muscle pain." "" + "Jaffer-Beighton syndrome" "" + "Jeune syndrome situs inversus" "" + "Judge Misch wright syndrome" "" + "KSHV inflammatory cytokine syndrome" "A syndrome caused by Kaposi sarcoma-associated herpesvirus (KSHV) infection. It manifests with fever, weight loss, and fluid retention in the legs or abdomen. Patients are at risk of developing KSHV-related cancers including Kaposi sarcoma and lymphoma." "" + "kallikrein hypertension" "" + "Kaplowitz-Bodurtha syndrome" "" + "" "true" + "Kashani-Strom-Utley syndrome" "" + "Kasznica-Carlson-Coppedge syndrome" "" + "Katsantoni-Papadakou-Lagoyanni syndrome" "" + "C1q nephropathy" "C1q nephropathy is a kidney disease in which a large amount of protein is lost in the urine. It is one of the many diseases that can cause the nephrotic syndrome." "" + "acquired testicular failure" "Testicular failure, the cause of which is not present at birth." "" + "Kocher-debre-Semelaigne syndrome" "" + "Koone-Rizzo-Elias syndrome" "" + "Kotzot-Richter syndrome" "" + "Kozlowski Brown Hardwick syndrome" "" + "Kozlowski Ouvrier syndrome" "" + "Kozlowski Rafinski Klicharska syndrome" "" + "Kozlowski Warren Fisher syndrome" "" + "Krauss Herman Holmes syndrome" "" + "Krieble Bixler syndrome" "" + "Kuster Majewski Hammerstein syndrome" "" + "Kuster syndrome" "" + "congenital myotonic dystrophy" "Myotonic dystrophy that is present at birth." "" + "laryngeal papillomatosis" "Laryngeal papillomatosis is a form of recurrent respiratory papillomatosis where tumors (papillomas) grow in the larynx (voice box).Symptoms usually begin with hoarseness and/or a change in the voice.Some people mayexperience difficulty breathing (dyspnea) and/or experience other life-threatening complications if the papillomas block the airway. The tumors may vary in size and grow very quickly. They often grow back even when removed.Laryngeal papillomatosisis caused by two types of human papilloma virus (HPV), called HPV 6 and HPV 11." "" + "mesomelic dysplasia" "A form of skeletal dysplasia characterized by shortening of the bones of the middle segments of the limbs (i.e., the radii, ulnae, tibiae and fibulae)." "" + "non-classic congenital adrenal hyperplasia" "A milder form of congenital adrenal hyperplasia characterized by decreased activity of an enzyme in the steroidogenic pathway, typically presenting later in life, that does not require life-long cortisol replacement." "" + "classic congenital adrenal hyperplasia" "A severe form of congenital adrenal hyperplasia characterized by very low or absent activity of an enzyme in the steroidogenic pathway typically presenting early in life, and requiring life-long cortisol replacement." "" + "Laugier-Hunziker syndrome" "" + "Laurence-Prosser-Rocker syndrome" "" + "le Marec-Bracq-Picaud syndrome" "" + "obsolete familial leiomyomatosis" "" "true" + "lentigo maligna melanoma" "Lentigo maligna melanoma (LMM) is a type of skin cancer that usually develops in older, fair-skinnedadults. The average age of diagnosis is65. LMM is thought to be caused by a history of sun exposure to the affected area. Treatment includes surgery to remove as much of the LMM as possible." "" + "levator syndrome" "Levator syndrome is characterized by sporadic pain in the rectum caused by spasm of a muscle near the anus (the levator ani muscle). The muscle spasm causes pain that typically is not related to defecation. The pain usually lasts less than 20 minutes. Pain may be brief and intense or a vague ache high in the rectum. It may occur spontaneously or with sitting and can waken a person from sleep. The pain may feel as if it would be relieved by the passage of gas or a bowel movement. In severe cases, the pain can persist for many hours and can recur frequently. A person may have undergone various unsuccessful rectal operations to relieve these symptoms." "" + "Weber syndrome" "" + "lip and oral cavity carcinoma" "A carcinoma arising in the lip or oral cavity. Most oral cavity carcinomas are squamous cell carcinomas of the tongue, buccal mucosa, or gums. Less frequent morphologic variants include mucoepidermoid carcinoma and adenocarcinoma. Lip carcinomas are usually basal cell or squamous cell carcinomas." "" + "lipodermatosclerosis" "Lipodermatosclerosis refers to changes in the skin of the lower legs. It is a form of panniculitis (inflammation of the layer of fat under the skin). Signs and symptoms include pain, hardening of skin, change in skin color (redness), swelling, and a tapering of the legs above the ankles. The exact underlying cause is unknown; however, it appears to be associated with venous insufficiency and/or obesity. Treatment usually includes compression therapy." "" + "littoral cell angioma of the spleen" "Littoral cell angioma is a rare primary vascular neoplasm of the spleen, composed of littoral cells that line the splenic sinuses of the red pulp. It was thought to be a benign, incidental lesion. However, many recent reports have described it to be a malignant lesion with congenital and immunological associations. The definitive diagnosis can only be made after histology and immunohistochemistry studies." "" + "immunodeficiency 14b, autosomal recessive" "" + "intellectual developmental disorder, autosomal dominant 65" "" + "developmental and epileptic encephalopathy 96" "" + "angioedema, hereditary, 6" "" + "lymphatic malformation 10" "" + "obsolete macrocephaly mesodermal hamartoma spectrum" "" "true" + "spermatogenic failure 54" "" + "Bardet-Biedl syndrome 20" "" + "oculopharyngodistal myopathy 3" "" + "hematohidrosis" "Hematohidrosis is a rare condition characterized by blood oozing from intact skin and mucosa. Signs and symptoms include sweating blood, crying bloody tears, bleeding from the nose, bleeding from the ears, or oozing bloodfrom other skin surfaces. The episodes are usually self-limiting." "" + "tympanic paraganglioma" "A benign or malignant middle ear paraganglioma arising from paraganglia around the tympanum. Signs and symptoms include a mass behind the tympanum, tinnitus, and conductive hearing loss." "" + "maple syrup urine disease type 1A" "A maple syrup urine disease caused by mutations in BCKDHA." "" + "maple syrup urine disease type 1B" "A maple syrup urine disease caused by mutations in BCKDHB." "" + "maple syrup urine disease type 2" "A maple syrup urine disease caused by mutations in DBT." "" + "Marinesco-Sjogren-like syndrome" "A disease with similar features to Marinesco-Sjogren syndrome." "" + "Maroteaux Fonfria syndrome" "" + "Martinez Monasterio Pinheiro syndrome" "A form of blepharo-cheilo-dontic syndrome with with cleft lip and palate, complete absence of deciduous teeth, hypodontia of permanent teeth, hair alterations, hypertelorism, midface hypoplasia, abnormal EEG, syndactyly, and other findings. This is an n-of-1 use case where only one patient or family has been described with this disorder." "" + "mediastinal yolk sac tumor" "An extragonadal non-seminomatous malignant germ cell tumor that arises from the mediastinum. It is characterized by the presence of small pale cells with small amount of cytoplasm and round to oval nuclei with small nucleoli forming a variety of patterns, including microcystic, macrocystic, pseudopapillary, myxomatous, hepatoid, polyvesicular vitelline, and solid. It manifests with respiratory distress, thoracic pain, fever, and superior vena cava syndrome." "" + "obsolete midphalangeal hair" "" "true" + "Milner-Khallouf-Gibson syndrome" "" + "Moebius axonal neuropathy hypogonadism" "" + "multifocal choroiditis" "Multifocal choroiditis (MFC) is an inflammatory disorder characterized by swelling of the eye (called uveitis) and multiple lesions in the choroid, a layer of blood vessels between the white of the eye and the retina. Symptoms include blurry vision, floaters, sensitivity to light, blind spots and mild eye discomfort. Though the cause is unknown, multifocal choroiditis is seen most frequently in women ages 20 to 60, and usually affects both eyes. MFC is generally treated with steroid medication that can be taken orally or injected into the eye. Multifocal choroiditis is a chronic condition, thus symptoms may return or worsen even after successful treatment." "" + "melanoma associated retinopathy" "Melanoma-associated retinopathy (MAR) is a rare autoimmune condition that occurs in some people with melanoma (a type of skin cancer) and can affect the vision." "" + "obsolete Noonan-like/multiple giant cell lesion syndrome" "Noonan-like/multiple giant cell lesion syndrome (NS/MGCLS) is a term used to describe a subgroup of people with Noonan syndrome who also have giant cell lesions (benign tumor-like lesions that most frequently occur in the jaws but may also affect other bones or soft tissues) and resemble individuals who have cherubism. Although NS/MGCLS was once believed to be a separate condition, it is now known to bepart of the Noonan syndrome spectrum. Mutations in the PTPN11 and SOS1 genes have been associated with NS/MGCLS; however, mutations in these genes do not always cause giant cell lesions. One family with NS/MGCLS has been found to have a mutation in the PTPN11 gene butno giant cell lesions, suggesting that other genetic factors may be involved in leading to giant cell development. Multiple giant cell lesions associated with NS may resolve after puberty with variable restoration of the facial structure." "" "true" + "WHIM syndrome" "" + "Martsolf syndrome" "" + "visceral neuropathy, familial" "" + "radio-digito-facial dysplasia" "" + "dry beriberi" "" + "wet beriberi" "" + "neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset" "" + "portal hypertension, noncirrhotic" "" + "miliaria pustulosa" "A miliaria that is characterized by pustules resulting from inflammation and bacterial infection." "" + "miliaria profunda" "A miliaria that is characterized by ductal occlusion of the papillary dermis causing the gland's secretions to leak between the superficial and deep layers of the skin resulting in a rapidly-spreading flesh-colored rash." "" + "miliaria crystallina" "A miliaria that is characterized by clear, superficial, noninflammed, subcorneal vesicles that easily rupture when rubbed and is located in the stratum corneum." "" + "Seckel like syndrome majoor-krakauer type" "" + "transitional cell neoplasm" "" + "obsolete degenerative disorder" "A disorder characterized by the progressive loss of function and/or structure of the affected tissues." "" "true" + "ductal eccrine adenocarcinoma" "" + "obsolete pityriasis" "A name originally applied to a group of skin diseases characterized by the formation of fine, branny scales, but now used only with a modifier. (Dorland, 27th ed)" "" "true" + "pityriasis lichenoides" "A rare cutaneous disorder of unknown etiology that can present either as an acute condition, with multiple papular lesions which become vesicular and necrotic (pityriasis lichenoides et varioliformis acuta) or chronic, with small, scaling papules (pityriasis lichenoides chronica)." "" + "Minamata disease" "A neurological syndrome caused by severe mercury poisoning." "" + "" "true" + "obsolete vibratory angioedema" "" "true" + "massive neonatal aspiration syndrome" "" + "hypothyroidism, congenital, nongoitrous, 2" "A congenital hypothyroidism that has material basis in heterozygous mutation in the PAX8 gene on chromosome 2q13." "" + "Duane syndrome type 1" "Duane syndrome type 1 is the most common type of Duane syndrome, an eye movement disorder that is present at birth. People with Duane syndrome have restricted ability to move the affected eye(s) outward toward the ear (abduction) and/or inward toward the nose (adduction). The different types are distinguished by the eye movements that are most restricted. Duane syndrome type 1 is characterized by absent to very restricted abduction and normal to mildly restricted adduction. The eye opening (palpebral fissure) narrows and the eyeball retracts into the orbit with adduction. With abduction, the reverse occurs. One or both eyes may be affected. The majority of cases are sporadic (not inherited), while about 10% are familial. 70% of affected people do not have any other abnormalities at birth (isolated Duane syndrome). Treatment is mainly supportive and may include glasses or contact lenses for vision correction, eye patches, or surgery." "" + "patent ductus arteriosus 3" "Any patent ductus arteriosus in which the cause of the disease is a mutation in the PRDM6 gene." "" + "obsolete epidemic encephalitis" "" "true" + "" "true" + "amebic dysentery" "Dysentery caused by intestinal amebic infection, chiefly with entamoeba histolytica. This condition may be associated with amebic infection of the liver and other distant sites." "" + "juvenile chronic polyarthritis" "A group of conditions used to describe polyarthritis occurring in children." "" + "Demodex folliculitis" "A demodicidosis that involves the hair follicle." "" + "demodicidosis of sebaceous gland" "A demodicidosis that involves the sebaceous gland." "" + "epsilon-heavy chain disease" "" + "congenital vascular malformation" "A congenital abnormality of the arteries and veins, lymph vessels or veins and lymph vessels." "" + "obsolete disorder of bilirubin metabolism" "" "true" + "obsolete polyposis, gastric, Dos Santos and de Magalhaes 1980" "" "true" + "obsolete nutritional or metabolic disease" "A collective term for nutritional disorders resulting from poor absorption or nutritional imbalance, and metabolic disorders resulting from defects in biosynthesis (ANABOLISM) or breakdown (CATABOLISM) of endogenous substances." "" "true" + "acquired mineral metabolism disease" "An instance of mineral metabolism disease that is acquired during the lifetime of the individual." "" + "internal hirudiniasis" "A condition resulting from accidental ingestion of leeches in drinking water. They may attach themselves to the wall of the pharynx, nasal cavity, or larynx." "" + "external hirudiniasis" "The attachment of leeches to the skin. After the leeches drop off, bleeding may continue as a result of the action of hirudin. Bites may become infected or ulcerate." "" + "acquired hyperprolactinemia" "An instance of hyperprolactinemia (disease) that is acquired during the lifetime of the individual." "" + "acquired lactic acidosis" "An instance of lactic acidosis that is acquired during the lifetime of the individual." "" + "neuropathy, hereditary sensory and autonomic, type 2A" "A hereditary sensory and autonomic neuropathy type 2 characterized by progressive sensory neuropathy with onset in childhood that has material basis in mutation in the HSN2 isoform of the WNK1 gene on chromosome 12p13" "" + "angiodysplasia of stomach" "A angiodysplasia that involves the stomach." "" + "cancer of short bone of upper limb" "" + "parasitemia" "The presence of parasites (especially malarial parasites) in the blood. (Dorland, 27th ed)" "" + "physiological malfunction arising from mental factor" "A dysfunction in biological function that is due to a psychological process." "" + "glomangiomyoma" "A morphologic variant of the glomus tumor with architectural features similar to solid glomus tumor. It is characterized by the presence of elongated glomus cells which resemble mature smooth muscle." "" + "cutaneous glomangiomyoma" "A glomangiomyoma that involves the zone of skin." "" + "pleural adenomatoid tumor" "A rare benign neoplasm that arises from the mesothelial cells of the pleura. It is characterized by a proliferation of epithelioid cells forming glandular and tubular patterns in a fibrous stroma." "" + "chronic renal failure syndrome" "Impairment of the renal function due to chronic kidney damage." "" + "infectious otitis media" "Inflammation of the anatomical structures of the middle ear secondary to an infectious process. Bacterial etiology is most common, but both viral and fungal pathogens are also possible. Symptoms include erythema and edema of the tympanic membrane, pain, and possibly fever. In severe infections, inflammation and edema of the structures of the middle ear can lead to perforation of the tympanic membrane secondary to the buildup of pressure in the narrow space." "" + "perennial allergic rhinitis" "Allergic rhinitis caused by indoor allergens and lasting year round." "" + "sciatica" "A condition characterized by pain radiating from the back into the buttock and posterior/lateral aspects of the leg. Sciatica may be a manifestation of sciatic neuropathy; radiculopathy (involving the spinal nerve roots; L4, L5, S1, or S2, often associated with intervertebral disk displacement); or lesions of the cauda equina." "" + "retinal neuroblastoma" "A neuroblastoma arising from the retina." "" + "pityriasis simplex" "" + "pityriasis folliculorum" "" + "pityriasis streptogenes" "" + "pityriasis amiantacea" "" + "pityriasis capitis" "True" + "pityriasis alba" "" + "pityriasis steatoides" "" + "obsolete familial pityriasis rubra pilaris" "" "true" + "cytomegalovirus pneumonia" "Pneumonia caused by cytomegalovirus. Most humans are exposed to cytomegalovirus. Healthy individuals do not develop signs and symptoms of infection. Patients with weakened immune system (e.g., AIDS patients, cancer patients who are being treated with chemotherapy, and patients who have received bone marrow or solid organ transplants) develop signs and symptoms of infection. They include cough, shortness of breath, fatigue, malaise, fever, muscle and joint pain, and excessive sweating." "" + "primary central sleep apnea syndrome" "" + "drug induced central sleep apnea" "" + "complex sleep apnea" "A distinct form of sleep-disordered breathing characterized as central sleep apnea (CSA), and presents in obstructive sleep apnea (OSA) patients during initial treatment with a continuous positive airway pressure (CPAP) device." "" + "central sleep apnea due to periodic breathing" "" + "central sleep apnea caused by high altitude" "" + "rapid eye movement sleep disorder" "" + "sleep disorder, initiating and maintaining sleep" "" + "circadian rhythm sleep disorder, delayed sleep phase type" "A circadian sleep disorder in which the individual's internal body clock is delayed with respect to the external day/night cycle." "" + "circadian rhythm sleep disorder, advanced sleep phase type" "A circadian sleep disorder characterized by bedtime and wake-up time much earlier than normal, although sleep quality is normal." "" + "circadian rhythm sleep disorder, irregular sleep wake type" "A circadian sleep disorder characterized by at least three sleep episodes per 24-hour period, irregularly from day to day." "" + "circadian rhythm sleep disorder, jet lag type" "A circadian sleep disorder that results from travelling across time zones." "" + "circadian rhythm sleep disorder, shift work type" "A circadian sleep disorder that occurs when work schedules force people to be awake when their circadian rhythms dictate that they should be sleeping. It is classified as a Circadian Rhythm Disorder (CRD) and is extrinsic, i.e. caused by external behavioral factors." "" + "" "true" + "obsolete arenavirus infectious disease" "" "true" + "large cell lung carcinoma, clear cell variant" "A morphologic variant of large cell lung carcinoma characterized by a predominance of clear cells that may or may not contain glycogen." "" + "obsolete actinomycotic infectious disease" "" "true" + "anaerobic balanitis" "" + "obsolete meningitis caused by anaerobic bacteria" "" "true" + "infection caused by Bifidobacterium" "A disease caused by infection with Bifidobacterium." "" + "Peptostreptococcus infectious disease" "A disease caused by infection with Peptostreptococcus." "" + "anaerobic cellulitis" "" + "muscular fibrosis multifocal obstructed vessels" "" + "short stature contractures hypotonia" "" + "Alice in Wonderland syndrome" "A disorienting neuropsychological condition that affects perception. People experience size distortion such as micropsia, macropsia, pelopsia, or teleopsia. Size distortion may occur of other sensory modalities." "" + "allesthesia" "A neurological disorder in which a sensory stimulus, usually tactile but more rarely other sensory modalities, is misperceived in a location distant from the original stimulus." "" + "sacral nerve plexus disorder" "A disease that involves the sacral nerve plexus." "" + "autosomal dominant Robinow syndrome 1" "Any autosomal dominant Robinow syndrome in which the cause of the disease is a mutation in the WNT5A gene." "" + "neurodegeneration with brain iron accumulation 2A" "" + "Aeromonas hydrophila intestinal disease" "" + "obsolete Herpesviridae infections" "" "true" + "ovarian dysgenesis 1" "" + "pituitary hormone deficiency, combined, 1" "Any combined pituitary hormone deficiencies, genetic form in which the cause of the disease is a mutation in the POU1F1 gene." "" + "surfactant metabolism dysfunction, pulmonary, 2" "" + "facial paresis, hereditary congenital, 1" "" + "chondrogenic neoplasm" "A benign, intermediate, or malignant cartilaginous matrix-producing neoplasm. Representative examples include osteochondroma, chondroblastoma, and chondrosarcoma." "" + "boutonneuse fever" "An infectious disease of the Mediterranean area, the Crimea, Africa, and India, caused by infection with rickettsia conorii subsp. coronorii." "" + "Astrakhan spotted fever" "An infectious disease of the Astrakhan region, Chad, Kosovo, caused by infection with rickettsia conorii subsp. caspia." "" + "dermatosis of eyelid" "" + "papillary urothelial hyperplasia" "A type of hyperplasia that is characterized by variable thickening of the urinary tract epithelium and a slight papillary growth. The latter is not associated with the presence of fibrovascular cores. There is no evidence of atypia. The relationship between this lesion and papillary urothelial neoplasia is not clear. -- 2003" "" + "obsolete familial chronic mucocutaneous candidiasis" "" "true" + "tumor grading characteristic" "A modifier that can be applied to a tumor class describing abnormal tumor histology or morphology. It is an indicator of how quickly a tumor is likely to grow and spread" "" + "general tumor grading characteristic" "A term that refers to the cellular differentiation of a malignant cellular infiltrate. A cancer is defined through grades I-IV (or 1-4), or as well, moderately, poorly differentiated or undifferentiated." "" + "tumor grade X, general grading system" "" + "tumor grade 2 or 3, general grading system" "A morphologic qualifier indicating that a neoplastic lesion is moderately to poorly differentiated." "" + "glioma susceptibility 1" "" + "enterochromaffin cell serotonin-producing pancreatic neuroendocrine tumor" "A usually slow-growing, grade 1 pancreatic neuroendocrine tumor that secretes serotonin. When it metastasizes to the liver, it produces the clinical symptoms of the carcinoid syndrome." "" + "obsolete disorder by anatomical region" "A broad grouping of diseases based on major body subdivisions." "" "true" + "Adams-Oliver syndrome 1" "Any Adams-Oliver syndrome in which the cause of the disease is a mutation in the ARHGAP31 gene." "" + "aniridia 1" "" + "epilepsy, hot water, 1" "" + "schwannomatosis 1" "" + "reactive thrombocytosis" "A thrombocytosis caused by an underlying condition, such as an infection." "" + "renal hypodysplasia/aplasia 1" "" + "renal hypodysplasia/aplasia 3" "" + "aortic aneurysm, familial abdominal, 1" "" + "amyloidosis, primary localized cutaneous, 1" "Any primary cutaneous amyloidosis in which the cause of the disease is a mutation in the OSMR gene." "" + "aortic valve disease 1" "Any aortic valve disease in which the cause of the disease is a mutation in the NOTCH1 gene." "" + "dyschromatosis universalis hereditaria 1" "" + "Fanconi renotubular syndrome 1" "" + "Zimmermann-Laband syndrome 1" "Any Zimmermann-Laband syndrome in which the cause of the disease is a mutation in the KCNH1 gene." "" + "glomerulopathy with fibronectin deposits 1" "" + "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1" "Any autosomal dominant progressive external ophthalmoplegia in which the cause of the disease is a mutation in the POLG gene." "" + "MVP1" "" + "Bethlem myopathy 1" "" + "myopathy, tubular aggregate, 1" "Any tubular aggregate myopathy in which the cause of the disease is a mutation in the STIM1 gene." "" + "otofaciocervical syndrome 1" "Any otofaciocervical syndrome in which the cause of the disease is a mutation in the EYA1 gene." "" + "pulmonary hypertension, primary, 1" "Any primary pulmonary hypertension in which the cause of the disease is a mutation in the BMPR2 gene." "" + "Dowling-Degos disease 1" "Any Dowling-Degos disease in which the cause of the disease is a mutation in the KRT5 gene." "" + "Singleton-Merten syndrome 1" "Any singleton-Merten dysplasia in which the cause of the disease is a mutation in the IFIH1 gene." "" + "glucocorticoid deficiency 1" "Any familial glucocorticoid deficiency in which the cause of the disease is a mutation in the MC2R gene." "" + "Brown-Vialetto-van Laere syndrome 1" "Any Brown-Vialetto-van Laere syndrome in which the cause of the disease is a mutation in the SLC52A3 gene." "" + "basal ganglia calcification, idiopathic, 1" "" + "choroidal dystrophy, central areolar, 1" "Any central areolar choroidal dystrophy in which the cause of the disease is a mutation in the GUCY2D gene." "" + "GUCY2D-related dominant retinopathy" "A retinopathy caused by a heterozygous gain of function or dominant-negative variant or in the GUCY2D gene." "" + "Jervell and Lange-Nielsen syndrome 1" "Any Jervell and Lange-Nielsen syndrome in which the cause of the disease is a mutation in the KCNQ1 gene." "" + "trichohepatoenteric syndrome 1" "Any tricho-hepato-enteric syndrome in which the cause of the disease is a mutation in the TTC37 gene." "" + "cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1" "Any dysequilibrium syndrome in which the cause of the disease is a mutation in the VLDLR gene." "" + "brittle cornea syndrome 1" "Any brittle cornea syndrome in which the cause of the disease is a mutation in the ZNF469 gene." "" + "obsolete Heimler syndrome 1" "" "true" + "Miyoshi muscular dystrophy 1" "Any Miyoshi myopathy in which the cause of the disease is a mutation in the DYSF gene." "" + "hypertrophic osteoarthropathy, primary, autosomal recessive, 1" "Any primary hypertrophic osteoarthropathy in which the cause of the disease is a mutation in the HPGD gene." "" + "pancreatic agenesis 1" "Any pancreatic agenesis in which the cause of the disease is a mutation in the PDX1 gene." "" + "peeling skin syndrome 1" "Any peeling skin syndrome in which the cause of the disease is a mutation in the CDSN gene." "" + "microphthalmia with coloboma 1" "" + "frontometaphyseal dysplasia 1" "Any frontometaphyseal dysplasia in which the cause of the disease is a mutation in the FLNA gene." "" + "X-linked lymphoproliferative disease due to SH2D1A deficiency" "A rare, genetic, primary immunodeficiency disorder characterized by an abnormal immune response to Epstein-Barr virus (EBV) infection, caused by hemizygous mutations in the X-linked SH2D1A gene, resulting in B cell lymphoproliferation and manifesting with various phenotypes which include EBV-driven severe or fulminant mononucleosis, hemophagocytic lymphohistiocytosis (presenting with fulminant hepatitis, hepatic necrosis, bone marrow hypoplasia, and neurological involvement), hypogammaglobulinemia, and B-cell lymphoma. Additional variable manifestations include vasculitis, lymphomatoid granulomatosis, aplastic anemia, and chronic gastritis. Occasionally, T-cell lymphoma may be observed. Laboratory findings include normal or increased activated T cells and reduced memory B cells." "" + "linear skin defects with multiple congenital anomalies 1" "Any microphthalmia with linear skin defects syndrome in which the cause of the disease is a mutation in the HCCS gene." "" + "myopathy, lactic acidosis, and sideroblastic anemia 1" "Any myopathy, lactic acidosis, and sideroblastic anemia in which the cause of the disease is a mutation in the PUS1 gene." "" + "D-2-hydroxyglutaric aciduria 1" "Any D-2-hydroxyglutaric aciduria in which the cause of the disease is a mutation in the D2HGDH gene." "" + "megalencephalic leukoencephalopathy with subcortical cysts 1" "" + "epilepsy, familial focal, with variable foci 1" "Any epilepsy, familial focal, with variable foci in which the cause of the disease is a mutation in the DEPDC5 gene." "" + "ataxia-telangiectasia-like disorder 1" "Any ataxia-telangiectasia-like disorder in which the cause of the disease is a mutation in the MRE11 gene." "" + "radioulnar synostosis with amegakaryocytic thrombocytopenia 1" "Any radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome in which the cause of the disease is a mutation in the HOXA11 gene." "" + "AAT1" "" + "PDA1" "" + "vitelliform macular dystrophy 3" "Any vitelliform macular dystrophy in which the cause of the disease is a mutation in the PRPH2 gene." "" + "sick sinus syndrome 1" "Any sick sinus syndrome in which the cause of the disease is a mutation in the SCN5A gene." "" + "herpes simplex encephalitis, susceptibility to, 1" "Any herpes simplex encephalitis in which the cause of the disease is a mutation in the UNC93B1 gene." "" + "cerebroretinal microangiopathy with calcifications and cysts 1" "Any Coats plus syndrome in which the cause of the disease is a mutation in the CTC1 gene." "" + "ectodermal dysplasia-syndactyly syndrome 1" "Any ectodermal dysplasia-syndactyly syndrome in which the cause of the disease is a mutation in the NECTIN4 gene." "" + "febrile seizures, familial, 11" "" + "hypotonia, infantile, with psychomotor retardation and characteristic facies 1" "Any hypotonia, infantile, with psychomotor retardation and characteristic facies in which the cause of the disease is a mutation in the NALCN gene." "" + "optic atrophy 8" "" + "hyperparathyroidism 4" "Any familial isolated hyperparathyroidism in which the cause of the disease is a mutation in the GCM2 gene." "" + "immunodeficiency-related disorder" "A non-neoplastic or neoplastic disorder that develops in a patient with immunodeficiency. Representative examples include AIDS-related disorders and disorders that develop following organ transplantation." "" + "obstetric disorder" "Disorder associated with pregnancy, childbirth, and puerperium." "" + "" "true" + "obsolete hernia" "The protrusion of part of an organ or fibroadipose tissue through an abnormal opening." "" "true" + "obsolete CD3epsilon deficiency" "" "true" + "congenital muscular dystrophy with cataracts and intellectual disability" "A congenital muscular dystrophy characterized by onset of progressive muscle weakness in early childhood with autosomal recessive inheritance that has material basis in homozygous or compound heterozygous mutation in the INPP5K gene (607875) on chromosome 17p13." "" + "dientamoebiasis" "Gastrointestinal infection with organisms of the genus dientamoeba." "" + "manic bipolar affective disorder" "The manic phase of bipolar disorder." "" + "bipolar depression" "The depressive stage of bipolar disorder." "" + "neurotic depression" "A term used for any state of depression that is not psychotic." "" + "meningitis caused by poliovirus" "" + "obsolete atrophy of lacrimal gland" "A degenerative disorder that involves the lacrimal gland." "" "true" + "defective phagocytic cell chemotaxis" "" + "defective phagocytic cell opsonization" "" + "pancreatic gastrinoma" "A neuroendocrine tumor arising from the pancreas. It is characterized by inappropriate secretion of gastrin and associated with Zollinger Ellison syndrome. The latter is characterized by the presence of peptic ulcer, gastroesophageal reflux disease, abdominal pain, diarrhea, and malabsorption." "" + "gastric enterochromaffin cell serotonin-producing neuroendocrine tumor" "A well differentiated neuroendocrine tumor that arises from the stomach. It produces serotonin and it may occasionally be found in association with a carcinoid syndrome." "" + "gastric neuroendocrine tumor G2" "A well differentiated, intermediate grade tumor with neuroendocrine differentiation that arises from the stomach. The mitotic count is 2-20 per 10 HPF and/or the Ki67 index is 3 to 20 percent." "" + "obsolete refractory" "" "true" + "drug-induced osteoporosis" "" + "obsolete macrocystic neurilemmoma" "" "true" + "primary skin meningioma" "" + "skin lymphangioma" "A lymphangioma arising from the skin." "" + "Pancoast syndrome" "A rare neoplastic syndrome characterized by obstruction of the thoracic outlet leading to compression of the brachial plexus and vessels within. It is usually caused by a malignant neoplasm in the superior pulmonary sulcus. The most commonly involved neoplasms are non-small cell lung carcinomas. Clinical signs include Horner's syndrome, shoulder pain radiating down the arm in the ulnar distribution followed by edema and atrophy of the affected extremity. Clinical course usually leads to early local invasion of the bony thoracic structures. Prognosis is highly stage-dependent." "" + "adult kidney Wilms tumor" "Wilms tumor of the kidney which occurs in adults." "" + "childhood kidney Wilms tumor" "A Wilms tumor of the kidney which occurs in children." "" + "pancreatic insulinoma" "An insulin-producing neuroendocrine tumor arising from the beta cells of the pancreas. Patients exhibit symptoms related to hypoglycemia due to inappropriate secretion of insulin." "" + "Philadelphia-positive myelogenous leukemia" "" + "tenosynovial giant cell tumor, diffuse type" "A locally aggressive, diffusely infiltrating tumor, arising in the tendon sheath. It is composed of synovial-like mononuclear cells, hemosiderin-laden macrophages, foam cells, and inflammatory cells. Multinucleated osteoclast-like giant cells are usually present, although in a minority of cases they may be absent or rare. It predominantly affects young adults. Symptoms include joint swelling, pain, and joint effusion." "" + "malignant mixed epithelial stromal tumor of the kidney" "A mixed epithelial stromal tumor of the kidney with malignant stromal features." "" + "immature extragonadal teratoma" "An immature teratoma that develops as a primary tumor in an anatomic site other than the testis or ovary." "" + "mixed teratoma and seminoma" "" + "small size posterior uveal melanoma" "" + "medium/large size posterior uveal melanoma" "" + "metastatic carcinoma in the adrenal medulla" "A carcinoma that has spread to the adrenal medulla from an adjacent or distant anatomic site." "" + "clitoral carcinoma" "A carcinoma that arises from the clitoris." "" + "secondary carcinoma" "A carcinoma that arises from a pre-existing lower grade epithelial lesion, or as a result of a primary carcinoma that has spread to secondary sites, or due to a complication of a cancer treatment." "" + "secondary malignant neoplasm" "A malignant neoplasm that arises from a pre-existing lower grade lesion, or as a result of a primary lesion that has spread to secondary sites, or due to a complication of a cancer treatment." "" + "metastatic malignant neoplasm" "A malignant tumor that has spread from its original (primary) site of growth to another site close to or distant from the primary site." "" + "metastatic carcinoma in the bone" "A carcinoma that has spread to the bone from another, primary anatomic site. Bone is one of the most frequent sites of metastatic carcinoma. Common sites of origin include lung, breast, and prostate." "" + "benign mesonephroma" "A benign epithelial neoplasm of the female reproductive system arising from mesonephric remnants." "" + "soft tissue amyloid neoplasm" "A soft tissue neoplasm composed of acellular amyloid material." "" + "toxocara canis infection (canine roundworms)" "" + "bird disease" "Diseases of birds not considered poultry, therefore usually found in zoos, parks, and the wild. The concept is differentiated from poultry diseases which is for birds raised as a source of meat or eggs for human consumption, and usually found in barnyards, hatcheries, etc." "" + "cat disease" "Diseases of the domestic cat (Felis catus or F. domesticus). This term does not include diseases of the so-called big cats such as cheetahs; lions; tigers, cougars, panthers, leopards, and other Felidae for which the heading carnivora is used." "" + "dog disease" "Diseases of the domestic dog (Canis familiaris). This term does not include diseases of wild dogs, wolves; foxes; and other Canidae for which the heading carnivora is used." "" + "foot rot" "A disease of the horny parts and of the adjacent soft structures of the feet of cattle, swine, and sheep. It is usually caused by Corynebacterium pyogenes or Bacteroides nodosus (see dichelobacter nodosus). It is also known as interdigital necrobacillosis. (From Black's Veterinary Dictionary, 18th ed)" "" + "hepatitis, non-human animal" "Inflammation of the liver in non-human animals." "" + "horse disease" "Diseases of domestic and wild horses of the species Equus caballus." "" + "lameness, non-human animal" "A departure from the normal gait in animals." "" + "larva migrans, visceral" "A condition produced in humans by the prolonged migration of animal nematode larvae in extraintestinal tissues other than skin; characterized by persistent hypereosinophilia, hepatomegaly, and frequently pneumonitis, commonly caused by Toxocara canis and Toxocara cati." "" + "muscular dystrophy, non-human animal" "" + "parasitic disease, non-human animal" "Infections or infestations with parasitic organisms. The infestation may be experimental or veterinary." "" + "parturient paresis" "A disease of pregnant and lactating cows and ewes leading to generalized paresis and death. The disease, which is characterized by hypocalcemia, occurs at or shortly after parturition in cows and within weeks before or after parturition in ewes." "" + "pneumonia, atypical interstitial, of cattle" "A cattle disease of uncertain cause, probably an allergic reaction." "" + "rodent disease" "Diseases of rodents of the order rodentia. This term includes diseases of Sciuridae (squirrels), Geomyidae (gophers), Heteromyidae (pouched mice), Castoridae (beavers), Cricetidae (rats and mice), Muridae (Old World rats and mice), Erethizontidae (porcupines), and Caviidae (guinea pigs)." "" + "salmonella infections, animal" "Infections in animals with bacteria of the genus salmonella." "" + "sheep disease" "Diseases of domestic and mountain sheep of the genus Ovis." "" + "swine disease" "Diseases of domestic swine and of the wild boar of the genus Sus." "" + "obsolete Usher syndrome, type 2b" "" "true" + "goat disease" "Diseases of the domestic or wild goat of the genus Capra." "" + "non-human primate disease" "Diseases of animals within the order primates. This term includes diseases of Haplorhini and Strepsirhini." "" + "vesicular stomatitis" "A viral disease caused by at least two distinct species (serotypes) in the vesiculovirus genus: vesicular stomatitis indiana virus and vesicular stomatitis new jersey virus. It is characterized by vesicular eruptions on the oral mucosa in cattle, horses, pigs, and other animals. In humans, vesicular stomatitis causes an acute influenza-like illness." "" + "digital dermatitis in cattle" "Highly contagious infectious dermatitis with lesions near the interdigital spaces usually in cattle. It causes discomfort and often severe lameness (lameness, animal). Lesions can be either erosive or proliferative and wart-like with papillary growths and hypertrophied hairs. dichelobacter nodosus and treponema are the most commonly associated causative agents for this mixed bacterial infection disease." "" + "edema disease of swine" "An acute disease of young pigs that is usually associated with weaning. It is characterized clinically by paresis and subcutaneous edema." "" + "encephalomyelitis, enzootic porcine" "A picornavirus infection producing symptoms similar to poliomyelitis in pigs." "" + "epidermitis, exudative, of swine" "An acute generalized dermatitis of pigs which occurs from 5 to 35 days of age, characterized by sudden onset, with morbidity of 10 to 90% and mortality of 5 to 90%. The lesions are caused by Staphylococcus hyos but the bacterial agent is unable to penetrate the intact skin. Abrasions on the feet and legs or lacerations on the body frequently precede infection. In acute cases, a vesicular-type virus may be the predisposing factor. The causative organism is inhibited by most antibiotics. (Merck Veterinary Manual, 5th ed)" "" + "hepatitis, viral, animal" "Inflammation of the liver in animals due to viral infection." "" + "hip dysplasia, canine" "A hereditary disease of the hip joints in dogs. Signs of the disease may be evident any time after 4 weeks of age." "" + "classical swine fever" "An acute, highly contagious disease affecting swine of all ages and caused by the classical swine fever virus. It has a sudden onset with high morbidity and mortality." "" + "infectious bovine rhinotracheitis" "A herpesvirus infection of cattle characterized by inflammation and necrosis of the mucous membranes of the upper respiratory tract." "" + "malaria, avian" "Any of a group of infections of fowl caused by protozoa of the genera plasmodium, Leucocytozoon, and Haemoproteus. The life cycles of these parasites and the disease produced bears strong resemblance to those observed in human malaria." "" + "malignant catarrh" "A herpesvirus infection of cattle characterized by catarrhal inflammation of the upper respiratory and alimentary epithelia, keratoconjunctivitis, encephalitis and lymph node enlargement. Syn: bovine epitheliosis, snotsiekte." "" + "mastitis, bovine" "Inflammation of the udder in cows." "" + "monkey disease" "Diseases of Old World and New World monkeys. This term includes diseases of baboons but not of chimpanzees or gorillas (= ape diseases)." "" + "poultry disease" "Diseases of birds which are raised as a source of meat or eggs for human consumption and are usually found in barnyards, hatcheries, etc. The concept is differentiated from bird diseases which is for diseases of birds not considered poultry and usually found in zoos, parks, and the wild." "" + "protozoan infections, animal" "Infections with unicellular organisms formerly members of the subkingdom Protozoa. The infections may be experimental or veterinary." "" + "swine erysipelas" "An acute and chronic contagious disease of young pigs caused by Erysipelothrix insidiosa." "" + "swine vesicular disease" "An enterovirus infection of swine clinically indistinguishable from foot-and-mouth disease, vesicular stomatitis, and vesicular exanthema of swine. It is caused by a strain of human enterovirus B." "" + "tuberculosis, avian" "A variety of tuberculosis affecting various birds, including chickens and ducks. It is caused by mycobacterium avium and characterized by tubercles consisting principally of epithelioid cells." "" + "tuberculosis, bovine" "An infection of cattle caused by mycobacterium bovis. It is transmissible to man and other animals." "" + "vesicular exanthema of swine" "A calicivirus infection of swine characterized by hydropic degeneration of the oral and cutaneous epithelia." "" + "white muscle disease" "A myodegeneration most frequent in calves and lambs whose dams have been fed during gestation or longer on feeds, especially legumes (fabaceae), grown in certain areas where selenium is either deficient or unavailable in the soil. It has been recorded in many countries. It has been produced experimentally in several species of animals on low-selenium intake. A similar myopathy occurs naturally in goats, deer, foals, and dogs but proof of the etiology is lacking. (Merck Veterinary Manual, 5th ed)" "" + "non-human ape disease" "Diseases of chimpanzees, gorillas, and orangutans." "" + "hemorrhagic syndrome, bovine" "Clinically severe acute disease of cattle caused by noncytopathic forms of Bovine viral diarrhea virus 2 (diarrhea virus 2, bovine viral). Outbreaks are characterized by high morbidity and high mortality." "" + "pneumonia of swine, mycoplasmal" "A chronic, clinically mild, infectious pneumonia of pigs caused by mycoplasma hyopneumoniae. Ninety percent of swine herds worldwide are infected with this economically costly disease that primarily affects animals aged two to six months old. The disease can be associated with porcine respiratory disease complex. pasteurella multocida is often found as a secondary infection." "" + "white heifer disease" "A congenital reproductive abnormality in white female offspring (heifers) in certain breeds of cattle, such as Belgian Blue and Shorthorn. The white color is inherited as a recessive trait which is associated with defects in the female reproductive tract (Muellerian system). These heifers are usually sterile." "" + "reticuloendotheliosis, avian" "A group of pathologic syndromes found in avian species caused by reticuloendotheliosis virus. The distinct syndromes include non-neoplastic runting, acute neoplastic disease, and chronic neoplastic disease. Humans and mammals appear resistant." "" + "" "true" + "" "true" + "strongyle infections, equine" "Infection of horses with parasitic nematodes of the superfamily strongyloidea. Characteristics include the development of hemorrhagic nodules on the abdominal peritoneum." "" + "toxoplasmosis, non-human animal" "Acquired infection of non-human animals by organisms of the genus toxoplasma." "" + "trypanosomiasis, bovine" "Infection in cattle caused by various species of trypanosomes." "" + "poult enteritis mortality syndrome" "An acute, transmissible, infectious disease associated with high mortality and morbidity in young turkeys (poults). It is characterized by diarrhea; anorexia; growth depression, and immune dysfunction. The cause is unknown but astroviruses (avastrovirus) and coronaviruses (coronavirus, turkey) have been isolated from diseased poults and are thought to cause the enteritis and increased susceptibility to bacterial infections." "" + "zoonotic bacterial infection" "A bacterial infection that is transmitted from animals to people." "" + "multiple congenital anomalies-neurodevelopmental syndrome, x-linked" "" + "developmental and epileptic encephalopathy, 90" "" + "spermatogenic failure, X-linked, 3" "" + "azoospermia, obstructive, with nephrolithiasis" "" + "Nairobi sheep disease" "An arbovirus infection of sheep and goats transmitted by ticks. It is characterized by high fever and hemorrhagic gastroenteritis." "" + "African horse sickness" "An insect-borne reovirus infection of horses, mules and donkeys in Africa and the Middle East; characterized by pulmonary edema, cardiac involvement, and edema of the head and neck." "" + "African swine fever" "A sometimes fatal asfivirus infection of pigs, characterized by fever, cough, diarrhea, hemorrhagic lymph nodes, and edema of the gallbladder. It is transmitted between domestic swine by direct contact, ingestion of infected meat, or fomites, or mechanically by biting flies or soft ticks (genus Ornithodoros)." "" + "avian leukosis" "A group of transmissible viral diseases of chickens and turkeys. Liver tumors are found in most forms, but tumors can be found elsewhere." "" + "sarcoma, avian" "Connective tissue tumors, affecting primarily fowl, that are usually caused by avian sarcoma viruses." "" + "bluetongue" "A reovirus infection, chiefly of sheep, characterized by a swollen blue tongue, catarrhal inflammation of upper respiratory and gastrointestinal tracts, and often by inflammation of sensitive laminae of the feet and coronet." "" + "brucellosis, bovine" "A disease of cattle caused by bacteria of the genus brucella leading to abortion in late pregnancy. brucella abortus is the primary infective agent." "" + "canine distemper" "A viral disease caused by canine distemper virus that affects a wide variety of animal families, including domestic and wild species of dogs, coyotes, foxes, pandas, wolves, ferrets, skunks, raccoons, and large cats, as well as pinnipeds, some primates, and a variety of other species." "" + "coronaviral enteritis of turkeys" "An acute, highly contagious virus disease of turkeys characterized by chilling, anorexia, decreased water intake, diarrhea, dehydration and weight loss. The infectious agent is a coronavirus." "" + "feline panleukopenia" "A highly contagious dna virus infection of the cat family, characterized by fever, enteritis and bone marrow changes. It is also called feline ataxia, feline agranulocytosis, feline infectious enteritis, cat fever, cat plague, and show fever. It is caused by feline panleukopenia virus or the closely related mink enteritis virus or canine parvovirus." "" + "fowlpox" "A poxvirus infection of poultry and other birds characterized by the formation of wart-like nodules on the skin and diphtheritic necrotic masses (cankers) in the upper digestive and respiratory tracts." "" + "furunculosis" "A persistent skin infection marked by the presence of furuncles, often chronic and recurrent. In humans, the causative agent is various species of staphylococcus. In salmonid fish (salmonids), the pathogen is aeromonas salmonicida." "" + "gastroenteritis, transmissible, of swine" "A condition of chronic gastroenteritis in adult pigs and fatal gastroenteritis in piglets caused by a coronavirus." "" + "hepatitis, infectious canine" "A contagious disease caused by canine adenovirus (adenoviruses, canine) infecting the liver, the eye, the kidney, and other organs in dogs, other canids, and bears. Symptoms include fever; edema; vomiting; and diarrhea." "" + "keratoconjunctivitis, infectious" "Infectious diseases of cattle, sheep, and goats, characterized by blepharospasm, lacrimation, conjunctivitis, and varying degrees of corneal opacity and ulceration. In cattle the causative agent is moraxella (moraxella) bovis; in sheep, mycoplasma; rickettsia; chlamydia; or acholeplasma; in goats, rickettsia." "" + "paratuberculosis" "A chronic gastroenteritis in ruminants caused by mycobacterium avium subspecies paratuberculosis." "" + "pneumonia, progressive interstitial, of sheep" "Chronic respiratory disease caused by the visna-maedi virus. It was formerly believed to be identical with jaagsiekte (pulmonary adenomatosis, ovine) but is now recognized as a separate entity." "" + "pulmonary adenomatosis, ovine" "A contagious, neoplastic, pulmonary disease of sheep characterized by hyperplasia and hypertrophy of pneumocytes and epithelial cells of the lung. It is caused by jaagsiekte sheep retrovirus." "" + "rinderpest" "A viral disease of cloven-hoofed animals caused by morbillivirus. It may be acute, subacute, or chronic with the major lesions characterized by inflammation and ulceration of the entire digestive tract. The disease was declared successfully eradicated worldwide in 2010." "" + "venereal tumors, veterinary" "Tumors most commonly seen on or near the genitalia. They are venereal, most likely transmitted through transplantation of cells by contact. Metastases have been reported. Spontaneous regression may occur." "" + "zoonosis" "An infectious disease of non-human animals that may be transmitted to humans or may be transmitted from humans to non-human animals, caused by a pathogen (an infectious agent, including bacteria, viruses, parasites, prions, etc)." "" + "mammary neoplasms, animal" "Tumors or cancer of the mammary gland in animals (mammary glands, animal)." "" + "simian acquired immunodeficiency syndrome" "Acquired defect of cellular immunity that occurs naturally in macaques infected with srv serotypes, experimentally in monkeys inoculated with srv or mason-pfizer monkey virus; (mpmv), or in monkeys infected with simian immunodeficiency virus." "" + "feline acquired immunodeficiency syndrome" "Acquired defect of cellular immunity that occurs in cats infected with feline immunodeficiency virus (fiv) and in some cats infected with feline leukemia virus (Felv)." "" + "murine acquired immunodeficiency syndrome" "Acquired defect of cellular immunity that occurs in mice infected with mouse leukemia viruses (Mulv). The syndrome shows striking similarities with human aids and is characterized by lymphadenopathy, profound immunosuppression, enhanced susceptibility to opportunistic infections, and B-cell lymphomas." "" + "leukemia, feline" "A neoplastic disease of cats frequently associated with feline leukemia virus infection." "" + "enzootic bovine leukosis" "A lymphoid neoplastic disease in cattle caused by the bovine leukemia virus. Enzootic bovine leukosis may take the form of lymphosarcoma, malignant lymphoma, or leukemia but the presence of malignant cells in the blood is not a consistent finding." "" + "feline infectious peritonitis" "Common coronavirus infection of cats caused by the feline infectious peritonitis virus (coronavirus, feline). The disease is characterized by a long incubation period, fever, depression, loss of appetite, wasting, and progressive abdominal enlargement. Infection of cells of the monocyte-macrophage lineage appears to be essential in FIP pathogenesis." "" + "porcine reproductive and respiratory syndrome" "A syndrome characterized by outbreaks of late term abortions, high numbers of stillbirths and mummified or weak newborn piglets, and respiratory disease in young unweaned and weaned pigs. It is caused by porcine respiratory and reproductive syndrome virus. (Radostits et al., Veterinary Medicine, 8th ed, p1048)" "" + "mink viral enteritis" "A highly contagious parvovirus infection in mink, caused by mink enteritis virus or the closely related feline panleukopenia virus or canine parvovirus. Transmission usually occurs by the fecal/oral route." "" + "porcine postweaning multisystemic wasting syndrome" "A worldwide emerging disease of weaned piglets first recognized in swine herds in western Canada in 1997. This syndrome is characterized by progressive weight loss, rapid (tachypnea) and difficult (dyspnea) breathing, and yellowing of skin. PMWS is caused by porcine circovirus infection, specifically type 2 or PCV-2." "" + "pythiosis" "A granulomatous disease caused by the aquatic organism pythium insidiosum and occurring primarily in horses, cattle, dogs, cats, fishes, and rarely in humans. It is classified into three forms: ocular, cutaneous, and arterial." "" + "type II hypersensitivity reaction disease" "A disease that has its basis in the disruption of type II hypersensitivity." "" + "autoimmune urticaria" "An autoimmune form of urticaria (disease)." "" + "livedoid vasculopathy" "Livedoid vasculopathy is a blood vessel disorder that causes painful ulcers and scarring (atrophie blanche) on the feet and lower legs. These symptoms can persist for months to years and the ulcers often recur.Livedoid vasculopathy lesions appear as painful red or purple marks and spots that may progress to small, tender, irregular ulcers. Symptoms tend to worsen in the winter and summer months, and affect women more often then men. Livedoid vasculopathy may occur alone or in combination with another condition, such as lupus or thrombophilia." "" + "obsolete shrimp allergy" "A allergic disease involving a shrimp food product." "" "true" + "obsolete aspirin allergy" "A allergic disease involving a acetylsalicylic acid." "" "true" + "isocyanate induced asthma" "" + "pneumonia caused by chlamydia" "An pneumonia caused by infection with Chlamydia." "" + "Charcot-Marie-Tooth disease, axonal, mitochondrial form, 1" "" + "limbal stem cell deficiency" "" + "microcephaly, epilepsy, and diabetes syndrome 2" "" + "microcephaly, epilepsy, and diabetes syndrome" "" + "dystonia 30" "" + "Coffin-Siris syndrome 12" "" + "leukodystrophy, hypomyelinating, 22" "" + "megacystis-microcolon-intestinal hypoperistalsis syndrome 2" "" + "megacystis-microcolon-intestinal hypoperistalsis syndrome" "" + "angioedema, hereditary, 4" "" + "angioedema, hereditary, 7" "" + "ovarian remnant syndrome" "Ovarian remnant syndrome (ORS) is characterized by the presence of residual ovarian tissue after a woman has had surgery to remove one ovary or both ovaries (oophorectomy). Signs and symptoms may include pelvic pain, a pelvic mass, or the absence of menopause after oophorectomy. The condition may be caused by surgical factors leading to incomplete removal of ovarian tissue, including factors that limit surgical exposure of the ovary or compromise surgical technique. Factors may include pelvic adhesions (limiting ability to see the ovary or causing it to adhere to other tissues); anatomic variations; bleeding during surgery; or poor surgical technique. Treatment is indicated for people with symptoms and typically involves surgery to remove the residual tissue. Therapy for those who refuse surgery, cannot have surgery, or do not have a pelvic mass may include hormonal therapy to suppress ovarian function." "" + "prurigo nodularis" "Prurigonodularis (PN) is a skin disease in which hard crusty lumps are formed on the skin that itches intensely. Repetitive rubbing, scratching, and touching results in more lesions in the skin. The itching is so intense that people scratch themselves to the point of bleeding or pain. The lumps formed in the skin are hard, and have about a half inch across, with a dry and rough top that is often scratched open. They tend to be located in the areas most easily reached and are worse on the outer sides: arms, shoulders and legs. The trunk, face and even palms can also be affected. The exact cause is unknown but some factors triggering PN include liver and kidneys problems, nervous and mental conditions and other skin diseases. Prurigo nodulares, in some cases, can be seen in other diseases such as lymphoma, chronic autoimmune cholestatic hepatitis, HIV infection, severe anemia,or a chronic kidney disease-related itching known as uremic pruritus. Treatment is very difficult, and may include corticoids, antihistaminic and other medication such as thalidomide and similar (Lenalidomide). In some cases, cryotherapy, photochemotherapy and habit reversal therapy for the itch-scratch cycle has improved the symptoms. PN can last for many years, and the itching is so intense that may affect all the everyday activities." "" + "X inactivation, familial skewed, 1" "" + "X inactivation, familial skewed" "" + "X inactivation, familial skewed, 2" "" + "mitochondrial complex 1 deficiency, nuclear type 12" "" + "mitochondrial complex I deficiency, nuclear type" "" + "mitochondrial complex 1 deficiency, nuclear type 30" "" + "Mullegama-Klein-Martinez syndrome" "" + "intellectual developmental disorder, X-linked 108" "" + "Paganini-Miozzo syndrome" "" + "nephrotic syndrome, type 20" "" + "Shukla-Vernon syndrome" "" + "congenital disorder of glycosylation, type ICC" "" + "Basilicata-Akhtar syndrome" "" + "hypothyroidism, congenital, nongoitrous, 8" "" + "hypothyroidism, congenital, nongoitrous, 9" "" + "intellectual developmental disorder, X-linked, syndromic, Hackmann-Di Donato type" "" + "obsolete histidinuria-renal tubular defect syndrome" "" "true" + "Wieacker-Wolff syndrome, female-restricted" "" + "holoprosencephaly 13, X-linked" "" + "congenital disorder of glycosylation, type IIr" "" + "immunodeficiency 74, COVID-19-related, X-linked" "" + "warfarin sensitivity, X-linked" "True" + "developmental and epileptic encephalopathy, 85, with or without midline brain defects" "" + "VEXAS syndrome" "An adult-onset inflammatory disease that affects only males and is caused by somatic, not germline, mutations. The disorder is characterized by adult onset of rheumatologic symptoms at a mean age of 64 years. Features include recurrent fevers, pulmonary and dermatologic inflammatory manifestations, vasculitis, deep vein thrombosis, arthralgias, and ear and nose chondritis. Laboratory studies indicate hematologic abnormalities, including macrocytic anemia, as well as increased levels of acute-phase reactants; about half of patients have positive autoantibodies. Bone marrow biopsy shows degenerative vacuolization restricted to myeloid and erythroid precursor cells, as well as variable hematopoietic dyspoiesis and dysplasias. The condition does not respond to rheumatologic medications and the features may result in premature death." "" + "obsolete chondrodysplasia punctata 2, X-linked dominant" "" "true" + "obsolete homosexuality 1" "" "true" + "HHV-6 encephalitis" "HHV-6 encephalitis refers to inflammation of the brain due to an infection with human herpesvirus 6. People who have undergone allogeneic hematopoietic cell transplantation are at an increased risk for developing HHV-6 encephalitis, particularly when umbilical cord blood stem cells are used. People with immune system disorders may also be at an increased risk for developing this infection. Signs and symptoms vary, but often include confusion, anterograde amnesia (difficulty learning new information following the onset of amnesia), short-term memory loss, and seizures.Diagnosis often involves lumbar puncture, virus testing, and MRI. EEG 's may also be recommendedwhen seizures are suspected. HHV-6 encephalitis is treated with an antiviral agent with activity against HHV-6. Long term outlook (chance of full recovery) can vary considerably depending individual patient factors." "" + "deafness, Y-linked 2" "" + "mitochondrial complex 1 deficiency, mitochondrial type 1" "Any mitochondrial complex 1 deficiency, mitochondrial type 1, in which the cause of the disease is a mutation in the MTND3 gene." "" + "mitochondrial complex I deficiency, mitochondrial type" "" + "mitochondrial complex 5 (ATP synthase) deficiency, mitochondrial type 1" "" + "xanthogranulomatous sialadenitis" "" + "autosomal recessive dyskeratosis congenita 4" "A dyskeratosis congenita that has material basis in an autosomal recessive mutation of TERT on chromosome 5p15.33." "" + "obsolete retinal cone dystrophy 2" "" "true" + "autosomal recessive cutis laxa type 2D" "An autosomal recessive cutis laxa type II classic type characterized by cardiovascular and neurologic involvement and that has material basis in homozygous mutation in the ATP6V1A gene on chromosome 3q13." "" + "autosomal recessive cutis laxa type 2C" "An autosomal recessive cutis laxa type II classic type characterized by cardiovascular involvement that has material basis in homozygous mutation in the ATP6V1E1 gene on chromosome 22q11." "" + "congenital anomalies of kidney and urinary tract 2" "Any congenital anomaly of kidney and urinary tract in which the cause of the disease is a mutation in the TBX18 gene." "" + "amyotrophic lateral sclerosis type 23" "" + "serpinopathy with toxic serpin polymerization" "True" + "serpinopathy with loss of serpin function" "True" + "gastroenteric neuroendocrine neoplasm" "" + "obsolete biliary atresia disorder" "" "true" + "obsolete overgrowth or tall stature syndrome with skeletal involvement" "" "true" + "obsolete dysostosis with brachydactyly without extraskeletal manifestations" "" "true" + "obsolete dysostosis with brachydactyly with extraskeletal manifestations" "" "true" + "obsolete chemically-induced disorder" "Disorders caused by the intentional or unintentional ingestion or exposure to chemical substances such as pharmaceutical preparations; noxae; and pesticides." "" "true" + "obsolete ureteropelvic junction obstruction" "" "true" + "polydactyly, postaxial, type A8" "" + "peripheral neuropathy, autosomal recessive, with or without impaired intellectual development" "" + "Liddle syndrome 3" "" + "muscular dystrophy, limb-girdle, autosomal dominant 4" "" + "severe combined immunodeficiency due to CARMIL2 deficiency" "" + "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8" "" + "muscular dystrophy, limb-girdle, autosomal recessive 23" "" + "hearing loss, autosomal dominant 74" "" + "developmental and epileptic encephalopathy, 67" "" + "glycosylphosphatidylinositol biosynthesis defect 18" "" + "Usher syndrome, type 4" "" + "hearing loss, autosomal recessive 111" "" + "intellectual developmental disorder with hypertelorism and distinctive facies" "" + "extraoral halitosis due to methanethiol oxidase deficiency" "" + "orofacial cleft 8" "" + "obsolete Saul-Wilson syndrome" "" "true" + "spermatogenic failure 33" "" + "spermatogenic failure 34" "" + "autism, susceptibility to, 20" "" + "epilepsy, early-onset, with or without developmental delay" "" + "combined oxidative phosphorylation deficiency 40" "" + "combined oxidative phosphorylation deficiency 41" "" + "combined oxidative phosphorylation deficiency 42" "" + "alopecia-intellectual disability syndrome 4" "" + "hypogonadotropic hypogonadism 25 with anosmia" "" + "Diets-Jongmans syndrome" "" + "immunodeficiency 66" "" + "muscular dystrophy, limb-girdle, autosomal recessive 26" "" + "bone marrow failure syndrome 6" "" + "" "true" + "hypervalinemia and hyperleucine-isoleucinemia" "Elevated levels of plasma valine and leucine/isoleucine levels, associated with symptoms of headache and mild memory loss and attributed to biallelic variants in the BCAT2 gene. BCAT2 encodes branched-chain aminotransferase 2 which catalyzes the transamination of the branched chain amino acids to their respective α-keto acids." "" + "combined oxidative phosphorylation deficiency 43" "" + "autoinflammation with episodic fever and lymphadenopathy" "" + "anauxetic dysplasia 3" "" + "combined oxidative phosphorylation deficiency 44" "" + "neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities" "" + "neurodevelopmental disorder with hypotonia, microcephaly, and seizures" "" + "retinal dystrophy with leukodystrophy" "" + "tremor, hereditary essential, 6" "" + "neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline" "" + "skeletal dysplasia, mild, with joint laxity and advanced bone age" "" + "Nizon-Isidor syndrome" "" + "lissencephaly 10" "" + "chromosome 17q11.2 duplication syndrome, 1.4-mb" "True" + "seizures, early-onset, with neurodegeneration and brain calcifications" "" + "epilepsy, progressive myoclonic, 11" "" + "leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome" "" + "leukoencephalopathy, motor delay, spasticity, and dysarthria syndrome" "" + "neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures" "" + "glaucoma, primary closed-angle" "" + "proteinuria, chronic benign" "" + "congenital disorder of glycosylation, type iit" "" + "pseudo-TORCH syndrome 3" "" + "Liberfarb syndrome" "A progressive disorder involving connective tissue, bone, retina, ear, and brain, characterized by early-onset retinal degeneration, sensorineural hearing loss, microcephaly, intellectual disability, and skeletal dysplasia with scoliosis and short stature." "" + "neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity" "" + "microcephaly, developmental delay, and brittle hair syndrome" "" + "harderoporphyria" "" + "46,xx sex reversal 5" "" + "intellectual developmental disorder with autistic features and language delay, with or without seizures" "" + "developmental and epileptic encephalopathy, 86" "" + "sorbitol dehydrogenase deficiency with peripheral neuropathy" "" + "Fanconi renotubular syndrome 5" "" + "neurodevelopmental, jaw, eye, and digital syndrome" "" + "hearing loss, autosomal dominant 77" "" + "developmental and epileptic encephalopathy, 87" "" + "neurodevelopmental disorder with language impairment and behavioral abnormalities" "" + "periventricular nodular heterotopia 9" "" + "arrhythmogenic right ventricular dysplasia, familial, 14" "" + "neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities" "" + "episodic ataxia, type 9" "" + "agenesis of corpus callosum, cardiac, ocular, and genital syndrome" "" + "granulomatous disease, chronic, autosomal recessive, 5" "" + "treacher collins syndrome 4" "" + "hyper-IgE recurrent infection syndrome 5, autosomal recessive" "" + "heterotaxy, visceral, 9, autosomal, with male infertility" "" + "retinitis pigmentosa 89" "" + "developmental and epileptic encephalopathy, 88" "" + "Mitchell syndrome" "" + "spondylometaphyseal dysplasia with corneal dystrophy" "" + "vertebral, cardiac, renal, and limb defects syndrome 3" "" + "diabetes mellitus, permanent neonatal 2" "" + "diabetes mellitus, permanent neonatal 3" "" + "diabetes mellitus, permanent neonatal 4" "" + "galactosemia 4" "" + "silver-russell syndrome 2" "" + "silver-russell syndrome 4" "" + "oculopharyngodistal myopathy 2" "" + "pontocerebellar hypoplasia, type 14" "" + "pontocerebellar hypoplasia, type 15" "" + "pontocerebellar hypoplasia, type 1E" "" + "pontocerebellar hypoplasia, type 1F" "" + "leukodystrophy, hypomyelinating, 21" "" + "immunodeficiency 80 with or without congenital cardiomyopathy" "" + "developmental and epileptic encephalopathy 6B" "" + "lymphatic malformation 9" "" + "arthrogryposis multiplex congenita 6" "" + "angioedema, hereditary, 5" "" + "megacystis-microcolon-intestinal hypoperistalsis syndrome 3" "" + "megacystis-microcolon-intestinal hypoperistalsis syndrome 4" "" + "angioedema, hereditary, 8" "" + "cardiomyopathy, dilated, 2D" "" + "immunodeficiency 81" "" + "spermatogenic failure 55" "" + "immunodeficiency 82 with systemic inflammation" "" + "Leber hereditary optic neuropathy, autosomal recessive" "" + "combined oxidative phosphorylation deficiency 52" "" + "spinocerebellar ataxia, autosomal recessive 29" "" + "encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 10" "" + "inflammatory bowel disease (infantile ulcerative colitis) 31, autosomal recessive" "" + "lymphatic malformation 11" "" + "cardiomyopathy, familial hypertrophic, 28" "" + "spinocerebellar ataxia, autosomal recessive 30" "" + "spinocerebellar ataxia, autosomal recessive 31" "" + "mitochondrial dna depletion syndrome 16B (neuroophthalmic type)" "" + "megacystis-microcolon-intestinal hypoperistalsis syndrome 5" "" + "cardiomyopathy, familial restrictive, 6" "" + "Ritscher-Schinzel syndrome 4" "" + "ciliary dyskinesia, primary, 46" "" + "immunodeficiency 84" "" + "encephalitis, acute, infection (viral)-induced, susceptibility to, 11" "" + "diarrhea 12, with microvillus atrophy" "" + "cutis laxa, autosomal recessive, type 2E" "" + "anencephaly 2" "" + "microcephaly 28, primary, autosomal recessive" "" + "myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive" "" + "ciliary dyskinesia, primary, 47, and lissencephaly" "" + "Joubert syndrome 38" "" + "facioscapulohumeral muscular dystrophy 3, digenic" "" + "facioscapulohumeral muscular dystrophy 4, digenic" "" + "short-rib thoracic dysplasia 21 without polydactyly" "" + "cholestasis, progressive familial intrahepatic, 6" "" + "Aicardi-Goutieres syndrome 8" "" + "Aicardi-Goutieres syndrome 9" "" + "cardiomyopathy, dilated, 2E" "" + "Klebsiella pneumonia" "An pneumonia caused by infection with Klebsiella." "" + "cystic partially differentiated nephroblastoma" "A variant of Wilms tumor of the kidney characterized by the presence of cystic spaces separated by septa. The septa contain immature epithelial cells, immature stromal cells, and blastema cells. Surgical resection is usually curative." "" + "autoimmune atherosclerosis" "An autoimmune form of atherosclerosis." "" + "Trichomonas prostatitis" "Infection of the prostate gland caused by Trichomonas vaginalis." "" + "Trichomonas cystitis" "An cystitis caused by infection with Trichomonas vaginalis." "" + "Trichomonas balanoposthitis" "" + "Trichomonas cervicitis" "An cervicitis (disease) caused by infection with Trichomonas vaginalis." "" + "trichomonal vulvovaginitis" "An vulvovaginitis caused by infection with Trichomonas vaginalis." "" + "monosomy 7 myelodysplasia and leukemia syndrome 2" "" + "developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy" "" + "neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities" "" + "mismatch repair cancer syndrome 2" "" + "mismatch repair cancer syndrome 3" "" + "mismatch repair cancer syndrome 4" "" + "spermatogenic failure 47" "" + "spermatogenic failure 48" "" + "arthrogryposis, distal, type 1C" "" + "intellectual developmental disorder with speech delay and axonal peripheral neuropathy" "" + "neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities" "" + "combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1" "" + "combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2" "" + "developmental and epileptic encephalopathy 89" "" + "immunodeficiency 75" "" + "COACH syndrome 2" "" + "neuronopathy, distal hereditary motor, type 5C" "Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the BSCL2 gene." "" + "osteogenesis imperfecta, type 21" "" + "COACH syndrome 3" "" + "Ritscher-Schinzel syndrome 3" "" + "neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities" "" + "thrombocytopenia 7" "" + "spermatogenic failure 49" "" + "spermatogenic failures 50" "" + "premature ovarian failure 17" "" + "vertebral hypersegmentation and orofacial anomalies" "" + "frontotemporal dementia and/or amyotrophic lateral sclerosis 8" "" + "cardiofacioneurodevelopmental syndrome" "" + "frontotemporal dementia and/or amyotrophic lateral sclerosis 5" "" + "cardioacrofacial dysplasia 1" "" + "cardioacrofacial dysplasia" "" + "cardioacrofacial dysplasia 2" "" + "Kaya-Barakat-Masson syndrome" "" + "mandibuloacral dysplasia progeroid syndrome" "" + "carpal tunnel syndrome 2" "" + "amyotrophic lateral sclerosis 26 with or without frontotemporal dementia" "" + "leukoencephalopathy, progressive, infantile-onset, with or without deafness" "" + "AMED syndrome, digenic" "" + "nephrotic syndrome, type 22" "" + "chromosome 13q33-q34 deletion syndrome" "" + "Lessel-Kreienkamp syndrome" "" + "immunodeficiency 76" "" + "oculocutaneous albinism type 8" "" + "intellectual developmental disorder with paroxysmal dyskinesia or seizures" "" + "mitochondrial complex 1 deficiency, nuclear type 36" "" + "Hermansky-Pudlak syndrome 11" "" + "hearing loss, autosomal recessive 117" "" + "Trichomonas tenax infectious disease" "An disease or disorder caused by infection with Trichomonas tenax." "" + "intellectual disability, X-linked 106" "" + "intellectual disability, X-linked, syndromic, 35" "" + "intellectual disability, X-linked, syndromic, Houge type" "" + "intellectual disability, autosomal dominant 45" "" + "intellectual disability, autosomal dominant 46" "" + "intellectual disability, autosomal dominant 47" "" + "intellectual disability, autosomal dominant 48" "" + "Clark-Baraitser syndrome" "" + "intellectual disability, autosomal recessive 61" "An autosomal recessive non-syndromic intellectual disability that has material basis in an autosomal recessive mutation of the RUSC2 gene on chromosome 9p13." "" + "intellectual disability, autosomal dominant 50" "" + "intellectual disability, autosomal dominant 51" "" + "intellectual disability, autosomal dominant 52" "" + "intellectual disability, autosomal dominant 53" "" + "intellectual disability, autosomal dominant 54" "" + "intellectual disability, autosomal dominant 55, with seizures" "" + "intellectual disability, autosomal dominant 56" "" + "proteasome-associated autoinflammatory syndrome 5" "" + "oocyte maturation defect 10" "" + "spermatogenic failure 51" "" + "myofibrillar myopathy 11" "" + "microcephaly 26, primary, autosomal dominant" "" + "microcephaly 27, primary, autosomal dominant" "" + "neurodevelopmental disorder with or without early-onset generalized epilepsy" "" + "proteasome-associated autoinflammatory syndrome 4" "" + "Joubert syndrome 37" "" + "intellectual developmental disorder, autosomal dominant 64" "" + "mitochondrial complex 2 deficiency, nuclear type 2" "" + "mitochondrial complex II deficiency, nuclear type" "" + "epilepsy, progressive myoclonic, 12" "" + "mitochondrial complex 2 deficiency, nuclear type 3" "" + "spermatogenic failure 52" "" + "premature ovarian failure 18" "" + "erythrokeratodermia variabilis et progressiva 7" "" + "neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities" "" + "short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2" "" + "short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies" "" + "Olmsted syndrome 2" "" + "nephrotic syndrome, type 23" "" + "Li-Campeau syndrome" "" + "obsolete olmsted syndrome 2" "" "true" + "neurofacioskeletal syndrome with or without renal agenesis" "" + "deafness, congenital, and adult-onset progressive leukoencephalopathy" "" + "immunodeficiency 78 with autoimmunity and developmental delay" "" + "immunodeficiency 77" "" + "mitochondrial complex 2 deficiency, nuclear type 4" "" + "oculomotor-abducens synkinesis" "" + "neuropathy, hereditary motor, with myopathic features" "" + "endove syndrome, limb-only type" "" + "endove syndrome, limb-brain type" "" + "immunodeficiency 79" "" + "sulfide quinone oxidoreductase deficiency" "" + "premature ovarian failure 19" "" + "blistering, acantholytic, of oral and laryngeal mucosa" "" + "vertebral, cardiac, tracheoesophageal, renal, and limb defects" "" + "developmental delay with dysmorphic facies and dental anomalies" "" + "spermatogenic failure 53" "" + "Kohlschutter-Tonz syndrome-like" "" + "bile acid conjugation defect 1" "" + "short stature, oligodontia, dysmorphic facies, and motor delay" "" + "neurodevelopmental disorder with or without autism or seizures" "" + "global developmental delay with speech and behavioral abnormalities" "" + "bleeding disorder, platelet-type, 24" "" + "mitochondrial complex 1 deficiency, nuclear type 37" "" + "hearing loss, autosomal dominant 80" "" + "neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism" "" + "vitreoretinopathy with phalangeal epiphyseal dysplasia" "" + "Baralle-Macken syndrome" "" + "hypercholanemia, familial, 2" "" + "hypercholanemia, familial" "" + "neurodegeneration with ataxia and late-onset optic atrophy" "" + "spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis" "" + "nephrotic syndrome, type 24" "" + "Glanzmann thrombasthenia 2" "" + "Glanzmann thrombasthenia" "" + "odontochondrodysplasia 2 with hearing loss and diabetes" "" + "odontochondrodysplasia" "" + "neurodevelopmental disorder with dysmorphic facies and variable seizures" "" + "autoimmune uveitis" "An autoimmune form of uveitis (disease)." "" + "autoimmune optic neuritis" "An autoimmune form of optic neuritis." "" + "autoimmune gastritis" "Inflammation of the body fundic mucosa of the stomach. It results from the development of autoantibodies against the parietal and chief cells. It is associated with the presence of intestinal metaplasia and an increased risk of developing gastric carcinoma." "" + "Glanzmann thrombasthenia 1" "A bleeding syndrome characterized by spontaneous mucocutaneous bleeding and an exaggerated response to trauma due to a constitutional thrombocytopenia" "" + "hypercholanemia, familial 1" "A very rare genetic disorder characterized clinically by elevated serum bile acid concentrations, itching, and fat malabsorption reported in patients of Old Order Amish descent." "" + "intellectual developmental disorder 61" "" + "spinocerebellar ataxia 48" "" + "hennekam lymphangiectasia-lymphedema syndrome 3" "" + "ophthalmoplegia, external, with rib and vertebral anomalies" "" + "squalene synthase deficiency" "" + "isolated growth hormone deficiency, type 4" "" + "intellectual developmental disorder with macrocephaly, seizures, and speech delay" "" + "isolated growth hormone deficiency, type 5" "" + "Joubert syndrome 35" "" + "spondyloepimetaphyseal dysplasia, Krakow type" "" + "cardiac, facial, and digital anomalies with developmental delay" "" + "bone marrow failure syndrome 5" "" + "osteochondrodysplasia, brachydactyly, and overlapping malformed digits" "" + "diarrhea 9" "" + "" "true" + "neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures" "Autosomal recessive neurodegenerative disorder with onset in the first years of life following normal early development, with cyclic episodic deterioration in response to stress, such as infection or febrile illness. The severity is highly variable. The cause is mutations in the ADPRHL2 gene." "" + "retinitis pigmentosa 83" "" + "cortical dysplasia, complex, with other brain malformations 9" "" + "warburg-cinotti syndrome" "" + "nephrotic syndrome, type 17" "" + "nephrotic syndrome, type 18" "" + "nephrotic syndrome, type 19" "" + "microcephaly 24, primary, autosomal recessive" "" + "ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis" "" + "diarrhea 10, protein-losing enteropathy type" "" + "periventricular nodular heterotopia 8" "" + "ovarian dysgenesis 8" "" + "hyperparathyroidism, transient neonatal" "" + "cardiomyopathy, dilated, 2c" "" + "intellectual developmental disorder and retinitis pigmentosa; IDDRP" "" + "myasthenic syndrome, congenital, 23, presynaptic" "" + "myasthenic syndrome, congenital, 24, presynaptic" "" + "developmental and epileptic encephalopathy, 68" "" + "immunodeficiency 15a" "" + "Snijders Blok-Campeau syndrome" "" + "inflammatory bowel disease, immunodeficiency, and encephalopathy" "" + "polydactyly, postaxial, type A9" "" + "retinitis pigmentosa 84" "" + "intellectual disability, autosomal recessive 66" "" + "mitochondrial complex 1 deficiency, nuclear type 2" "" + "vertebral anomalies and variable endocrine and T-cell dysfunction" "" + "mitochondrial complex 1 deficiency, nuclear type 3" "" + "mitochondrial complex 1 deficiency, nuclear type 4" "" + "mitochondrial complex 1 deficiency, nuclear type 5" "" + "mitochondrial complex 1 deficiency, nuclear type 6" "" + "mitochondrial complex 1 deficiency, nuclear type 7" "" + "mitochondrial complex 1 deficiency, nuclear type 8" "" + "epidermodysplasia verruciformis, susceptibility to, 2" "" + "mitochondrial complex 1 deficiency, nuclear type 9" "" + "mitochondrial complex 1 deficiency, nuclear type 10" "" + "mitochondrial complex 1 deficiency, nuclear type 11" "" + "mitochondrial complex 1 deficiency, nuclear type 13" "" + "mitochondrial complex 1 deficiency, nuclear type 14" "" + "mitochondrial complex 1 deficiency, nuclear type 15" "" + "mitochondrial complex 1 deficiency, nuclear type 16" "" + "mitochondrial complex 1 deficiency, nuclear type 17" "" + "mitochondrial complex 1 deficiency, nuclear type 18" "" + "mitochondrial complex 1 deficiency, nuclear type 19" "" + "mitochondrial complex 1 deficiency, nuclear type 21" "" + "mitochondrial complex 1 deficiency, nuclear type 22" "" + "mitochondrial complex 1 deficiency, nuclear type 23" "" + "mitochondrial complex 1 deficiency, nuclear type 24" "" + "mitochondrial complex 1 deficiency, nuclear type 25" "" + "mitochondrial complex 1 deficiency, nuclear type 26" "" + "mitochondrial complex 1 deficiency, nuclear type 27" "" + "mitochondrial complex 1 deficiency, nuclear type 28" "" + "mitochondrial complex 1 deficiency, nuclear type 29" "" + "mitochondrial complex 1 deficiency, nuclear type 31" "" + "mitochondrial complex 1 deficiency, nuclear type 32" "" + "mitochondrial complex 1 deficiency, nuclear type 33" "" + "ciliary dyskinesia, primary, 39" "" + "hearing loss, autosomal recessive 112" "" + "mirror movements 4" "" + "arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development" "" + "pontocerebellar hypoplasia, type 12" "" + "epidermodysplasia verruciformis, susceptibility to, 3" "" + "trichohepatoneurodevelopmental syndrome" "" + "congenital anomalies of kidney and urinary tract 3" "" + "global developmental delay, lung cysts, overgrowth, and wilms tumor" "" + "mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations" "" + "hypotrichosis 14" "" + "neurodegeneration, childhood-onset, with cerebellar atrophy" "" + "fibrosis, neurodegeneration, and cerebral angiomatosis" "" + "cardiac-urogenital syndrome" "" + "hyper-IgE recurrent infection syndrome 3, autosomal recessive" "" + "visual impairment and progressive phthisis bulbi" "" + "microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum" "" + "developmental and epileptic encephalopathy, 69" "" + "macrocephaly, acquired, with impaired intellectual development" "" + "mucocutaneous ulceration, chronic" "" + "spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant" "" + "neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia" "" + "intellectual developmental disorder, autosomal recessive 67" "" + "developmental and epileptic encephalopathy, 70" "" + "ciliary dyskinesia, primary, 40" "" + "intellectual developmental disorder, autosomal recessive 68" "" + "epidermodysplasia verruciformis, susceptibility to, 4" "" + "epidermodysplasia verruciformis, susceptibility to, 5" "" + "Diamond-Blackfan anemia 18" "" + "Diamond-Blackfan anemia 19" "" + "Diamond-Blackfan anemia 20" "" + "intellectual developmental disorder with cardiac defects and dysmorphic facies" "" + "basal ganglia calcification, idiopathic, 7, autosomal recessive" "" + "myasthenic syndrome, congenital, 25, presynaptic" "" + "lissencephaly 9 with complex brainstem malformation" "" + "developmental and epileptic encephalopathy, 71" "" + "glutaminase deficiency" "Glutaminase deficiency is characterized by refractory seizures, respiratory failure, brain abnormalities and death in the neonatal period, though milder cases with spastic ataxia-dysarthria have also been reported. This condition is caused by mutations in the glutaminase (GLS) gene." "" + "combined oxidative phosphorylation deficiency 37" "" + "global developmental delay with or without impaired intellectual development" "" + "encephalopathy, progressive, early-onset, with episodic rhabdomyolysis" "" + "intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency" "" + "infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development" "" + "spermatogenic failure 35" "" + "intellectual developmental disorder with abnormal behavior, microcephaly, and short stature" "" + "polymicrogyria with or without vascular-type ehlers-danlos syndrome" "" + "retinitis pigmentosa 85" "" + "microcephaly, growth deficiency, seizures, and brain malformations" "" + "Galloway-Mowat syndrome 6" "" + "Galloway-Mowat syndrome 7" "" + "Galloway-Mowat syndrome 8" "" + "microcephaly 25, primary, autosomal recessive" "" + "oocyte maturation defect 6" "" + "neurodevelopmental disorder and language delay with or without structural brain abnormalities" "" + "neurodevelopmental disorder with central and peripheral motor dysfunction" "" + "epilepsy, idiopathic generalized, susceptibility to, 15" "" + "Coffin-Siris syndrome 8" "Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the SMARCC2 gene." "" + "short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis" "" + "neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination" "" + "spinocerebellar ataxia, autosomal recessive 27" "" + "turnpenny-fry syndrome" "" + "developmental and epileptic encephalopathy, 72" "" + "combined oxidative phosphorylation deficiency 38" "" + "facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome" "" + "intellectual developmental disorder, autosomal recessive 69" "" + "leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate" "" + "amelogenesis imperfecta, type 3c" "" + "spondyloepiphyseal dysplasia, kondo-fu type" "" + "immunodeficiency 60" "" + "spondyloepimetaphyseal dysplasia with joint laxity, type 3" "" + "developmental and epileptic encephalopathy, 74" "" + "combined oxidative phosphorylation deficiency 39" "" + "Charcot-Marie-Tooth disease, axonal, type 2EE" "" + "intellectual developmental disorder, autosomal recessive 70" "" + "leukodystrophy, hypomyelinating, 18" "" + "hearing loss, autosomal recessive 113" "" + "global developmental delay, progressive ataxia, and elevated glutamine" "" + "cataract 48" "" + "metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression" "" + "spastic paraplegia 80, autosomal dominant" "" + "gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy" "" + "spermatogenic failure 36" "" + "hearing loss, autosomal recessive 100" "" + "neurodevelopmental disorder with impaired speech and hyperkinetic movements" "" + "encephalopathy, acute, infection-induced, susceptibility to, 9" "" + "spermatogenic failure 37" "" + "developmental delay with variable intellectual impairment and behavioral abnormalities" "" + "hydatidiform mole, recurrent, 3" "" + "hydatidiform mole, recurrent, 4" "" + "spermatogenic failure 38" "" + "hearing loss, autosomal recessive 94" "" + "arthrogryposis, distal, type 2B2" "" + "arthrogryposis, distal, type 2B3" "" + "developmental and epileptic encephalopathy, 75" "" + "spastic ataxia 9, autosomal recessive" "" + "neurodevelopmental disorder with or without variable brain abnormalities; NEDBA" "" + "long qt syndrome 8" "" + "ciliary dyskinesia, primary, 41" "" + "neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia" "" + "intellectual developmental disorder with short stature and variable skeletal anomalies" "" + "developmental delay with or without dysmorphic facies and autism" "" + "hearing loss, autosomal recessive 114" "" + "hearing loss, autosomal recessive 115" "" + "immunodeficiency 62" "" + "Khan-Khan-Katsanis syndrome" "" + "bleeding disorder, platelet-type, 22" "" + "hypoalphalipoproteinemia, primary, 2" "" + "paragangliomas 6" "" + "developmental and epileptic encephalopathy, 76" "" + "intellectual developmental disorder with severe speech and ambulation defects" "Any BAFopathy in which the cause of the disease is a mutation in the ACTL6B gene." "" + "paragangliomas 7" "" + "brain abnormalities, neurodegeneration, and dysosteosclerosis" "" + "uridine-cytidineuria" "" + "cerebellar, ocular, craniofacial, and genital syndrome" "" + "neurodevelopmental disorder with seizures and speech and walking impairment" "" + "hearing loss, autosomal recessive 99" "" + "generalized epilepsy with febrile seizures plus, type 10" "" + "arthrogryposis multiplex congenita 3, myogenic type" "" + "neurodevelopmental disorder with microcephaly and structural brain anomalies" "" + "hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities" "" + "congenital hypotonia, epilepsy, developmental delay, and digital anomalies" "" + "immunodeficiency 63 with lymphoproliferation and autoimmunity" "" + "aortic valve disease 3" "" + "neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements" "" + "polydactyly, postaxial, type a10" "" + "Noonan syndrome 11" "" + "holoprosencephaly 12 with or without pancreatic agenesis" "" + "cerebellar atrophy with seizures and variable developmental delay" "" + "intellectual developmental disorder, autosomal recessive 71" "" + "neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities" "" + "Coffin-Siris syndrome 10" "" + "neuropathy, hereditary motor and sensory, type VIc, with optic atrophy" "" + "O'Donnell-Luria-Rodan syndrome" "" + "leber congenital amaurosis 19" "" + "intellectual developmental disorder 59" "" + "hyper-IgE recurrent infection syndrome 4, autosomal recessive" "" + "myopathy, congenital, with tremor" "" + "ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features" "" + "mitochondrial DNA depletion syndrome 16 (hepatic type)" "" + "robinow syndrome, autosomal recessive 2" "" + "erythrokeratodermia variabilis et progressiva 6" "" + "hearing loss, autosomal dominant 37" "" + "immunodeficiency 64" "" + "ectodermal dysplasia 15, hypohidrotic/hair type" "" + "hypopigmentation, organomegaly, and delayed myelination and development" "" + "trichothiodystrophy 7, nonphotosensitive" "" + "neurodevelopmental disorder with visual defects and brain anomalies" "" + "developmental and epileptic encephalopathy, 77" "" + "hepatitis, fulminant viral, susceptibility to" "" + "oocyte maturation defect 7" "" + "night blindness, congenital stationary, type1i" "" + "developmental and epileptic encephalopathy, 78" "" + "developmental and epileptic encephalopathy, 79" "" + "microangiopathy and leukoencephalopathy, pontine, autosomal dominant" "" + "mitochondrial DNA depletion syndrome 17" "" + "neurodevelopmental disorder with ataxia, hypotonia, and microcephaly" "" + "neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies" "" + "neurodevelopmental disorder with cerebellar hypoplasia and spasticity" "" + "hypothyroidism, congenital, nongoitrous, 7" "" + "neurodevelopmental disorder with structural brain anomalies and dysmorphic facies" "" + "myopathy, congenital, progressive, with scoliosis" "" + "developmental and epileptic encephalopathy, 80" "" + "intellectual developmental disorder 60 with seizures" "" + "glycosylphosphatidylinositol biosynthesis defect 21" "" + "nephrotic syndrome, type 21" "" + "epilepsy, idiopathic generalized, susceptibility to, 16" "" + "spastic tetraplegia and axial hypotonia, progressive" "" + "neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities" "" + "snijders blok-fisher syndrome" "" + "pontocerebellar hypoplasia, type 13" "" + "intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies" "" + "lower urinary tract obstruction, congenital" "" + "retinitis pigmentosa 86" "" + "spondyloepiphyseal dysplasia, nishimura type" "" + "weiss-kruszka syndrome" "" + "abdominal obesity-metabolic syndrome 4" "" + "neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies" "" + "noonan syndrome 12" "" + "" "true" + "Usher syndrome, type 1M" "" + "siddiqi syndrome" "" + "oculopharyngeal myopathy with leukoencephalopathy 1" "" + "infantile liver failure syndrome 3" "" + "spermatogenic failure 39" "" + "osteogenesis imperfecta, type 20" "" + "immunodeficiency 65, susceptibility to viral infections" "" + "neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies" "" + "neurooculocardiogenitourinary syndrome" "" + "intellectual developmental disorder with impaired language and dysmorphic facies" "" + "myopathy, congenital, with structured cores and z-line abnormalities" "" + "myopathy, distal, 6, adult-onset, autosomal dominant" "" + "zimmermann-laband syndrome 3" "" + "neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies" "" + "" "true" + "diarrhea 11, malabsorptive, congenital" "" + "developmental and epileptic encephalopathy, 81" "" + "spermatogenic failure 40" "" + "intellectual developmental disorder, autosomal recessive 72" "" + "hydrocephalus, congenital communicating, 1" "" + "spermatogenic failure 41" "" + "intellectual developmental disorder with speech delay, autism, and dysmorphic facies" "" + "pulmonary fibrosis and/or bone marrow failure, telomere-related, 5" "" + "cortical dysplasia, complex, with other brain malformations 10" "" + "pancreatic cancer, susceptibility to, 5" "" + "lessel-kubisch syndrome" "" + "mitochondrial complex 5 (ATP synthase) deficiency, nuclear type 6" "" + "intellectual developmental disorder with short stature and behavioral abnormalities" "" + "leukodystrophy, hypomyelinating, 19, transient infantile" "" + "ciliary dyskinesia, primary, 42" "" + "retinitis pigmentosa 87 with choroidal involvement" "" + "RPE65-related dominant retinopathy" "A retinopathy caused by a heterozygous gain of function variant in the RPE65 gene." "" + "ciliary dyskinesia, primary, 43" "" + "short stature and microcephaly with genital anomalies" "" + "neurodevelopmental disorder with absent language and variable seizures" "" + "neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures" "" + "neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia" "" + "megabladder, congenital" "" + "developmental and epileptic encephalopathy, 82" "" + "premature ovarian failure 16" "" + "Heyn-Sproul-Jackson syndrome" "" + "intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures" "" + "ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies" "" + "spondyloepimetaphyseal dysplasia, Isidor-Toutain type" "" + "Liang-Wang syndrome" "" + "neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity" "" + "neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies" "" + "Poirier-Bienvenu neurodevelopmental syndrome" "" + "neuromuscular disease and ocular or auditory anomalies with or without seizures" "" + "aneurysm, intracranial berry, 12" "" + "structural brain anomalies with impaired intellectual development and craniosynostosis" "" + "pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures" "" + "neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy" "" + "developmental and epileptic encephalopathy, 83" "" + "spermatogenic failure 42" "" + "intellectual developmental disorder with hypotonia and behavioral abnormalities" "" + "spermatogenic failure 43" "" + "neutropenia, severe congenital, 8, autosomal dominant" "" + "neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements" "" + "Catifa syndrome" "" + "Joubert syndrome 36" "" + "arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum" "" + "corneal dystrophy, Meesmann, 2" "" + "spastic paraplegia 81, autosomal recessive" "" + "spastic paraplegia 82, autosomal recessive" "" + "lymphatic malformation 8" "" + "CEBALID syndrome" "" + "mitochondrial complex 3 deficiency, nuclear type 10" "" + "mitochondrial complex 1 deficiency, nuclear type 34" "" + "hearing loss, autosomal dominant 75" "" + "Coffin-Siris syndrome 11" "" + "congenital heart defects, multiple types, 7" "" + "ciliary dyskinesia, primary, 44" "" + "long QT syndrome 16" "" + "Imagawa-Matsumoto syndrome" "" + "hearing loss, autosomal dominant 76" "" + "developmental and epileptic encephalopathy, 84" "" + "intellectual developmental disorder 62" "" + "juvenile arthritis due to defect in LACC1" "" + "neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation" "" + "Beck-Fahrner syndrome" "" + "spinocerebellar ataxia, autosomal recessive 28" "" + "ciliary dyskinesia, primary, 45" "" + "respiratory papillomatosis, juvenile recurrent, congenital" "" + "sandestig-stefanova syndrome" "" + "triokinase and FMN cyclase deficiency syndrome" "" + "T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant" "" + "intellectual developmental disorder with poor growth and with or without seizures or ataxia" "" + "pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal" "" + "mitochondrial DNA depletion syndrome 18" "" + "chromosome 1p36.33 duplication syndrome, atad3 gene cluster, autosomal dominant" "" + "genitourinary and/or brain malformation syndrome" "" + "rhizomelic limb shortening with dysmorphic features" "" + "myopathy, congenital, with respiratory insufficiency and bone fractures" "" + "myopathy, congenital proximal, with minicore lesions" "" + "basal ganglia calcification, idiopathic, 8, autosomal recessive" "" + "intellectual developmental disorder, autosomal dominant 63, with macrocephaly" "" + "retinitis pigmentosa 88" "" + "myopia 27" "" + "neurodevelopmental disorder with microcephaly and dysmorphic facies" "" + "neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies" "" + "polycystic kidney disease 4" "A autosomal dominant polycystic kidney disease that has material basis in mutation in the PKD4 gene." "" + "Galloway-Mowat syndrome 1" "" + "Galloway-Mowat syndrome 2, X-linked" "" + "Galloway-Mowat syndrome 3" "" + "Galloway-Mowat syndrome 4" "" + "Galloway-Mowat syndrome 5" "" + "erythrokeratodermia variabilis et progressiva 1" "" + "erythrokeratodermia variabilis et progressiva 2" "" + "erythrokeratodermia variabilis et progressiva 3" "" + "erythrokeratodermia variabilis et progressiva 4" "" + "erythrokeratodermia variabilis et progressiva 5" "" + "spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy" "" + "Meckel syndrome 13" "" + "orofaciodigital syndrome 16" "" + "Meier-Gorlin syndrome 8" "" + "Perrault syndrome 6" "" + "ichthyosis, congenital, autosomal recessive 14" "" + "ichthyosis, congenital, autosomal recessive 13" "" + "spinocerebellar ataxia, autosomal recessive 25" "" + "spinocerebellar ataxia, autosomal recessive 26" "" + "exudative vitreoretinopathy 7" "" + "Charcot-Marie-Tooth disease, demyelinating, type 1G" "A rare autosomal dominant hereditary demyelinating motor and sensory neuropathy characterized by progressive distal muscle weakness and atrophy, distal sensory impairment, and decreased or absent reflexes in the affected limbs, with an onset in the first or second decade of life. Median motor nerve conduction velocities are typically less than 38 m/s. Patients often have foot deformities. Sural nerve biopsy shows decrease in myelinated fibers, myelin abnormalities, and onion bulb formation. Fatty replacement of muscle tissue predominantly affects the anterior and lateral compartment of the lower legs." "" + "combined oxidative phosphorylation defect type 29" "" + "obsolete skin/hair/eye pigmentation, variation in" "" "true" + "hearing loss, autosomal recessive 106" "" + "hearing loss, autosomal recessive 107" "" + "hearing loss, autosomal recessive 108" "" + "hearing loss, autosomal recessive 57" "" + "hearing loss, autosomal recessive 109" "" + "nephrotic syndrome 14" "" + "ciliary dyskinesia, primary, 37" "" + "hearing loss, autosomal dominant 71" "" + "hearing loss, autosomal dominant 72" "" + "hearing loss, autosomal dominant 73" "" + "hearing loss, autosomal dominant 34, with or without inflammation" "" + "nephrotic syndrome 15" "" + "nephrotic syndrome 16" "" + "polycystic kidney disease 5" "Any polycystic kidney disease in which the cause of the disease is a mutation in the DZIP1L gene." "" + "multiple mitochondrial dysfunctions syndrome 5" "" + "Joubert syndrome 30" "" + "Joubert syndrome 32" "" + "Joubert syndrome 31" "" + "Joubert syndrome 33" "" + "schizophrenia 19" "" + "developmental and epileptic encephalopathy, 52" "" + "developmental and epileptic encephalopathy, 53" "" + "developmental and epileptic encephalopathy, 54" "" + "developmental and epileptic encephalopathy, 55" "" + "developmental and epileptic encephalopathy, 56" "" + "developmental and epileptic encephalopathy, 57" "" + "developmental and epileptic encephalopathy, 58" "" + "developmental and epileptic encephalopathy, 59" "" + "developmental and epileptic encephalopathy, 60" "" + "developmental and epileptic encephalopathy, 61" "" + "developmental and epileptic encephalopathy, 62" "" + "developmental and epileptic encephalopathy, 63" "" + "developmental and epileptic encephalopathy, 64" "" + "developmental and epileptic encephalopathy, 65" "" + "orofaciodigital syndrome 17" "" + "spinocerebellar ataxia 44" "" + "spinocerebellar ataxia 45" "" + "spinocerebellar ataxia 46" "" + "spinocerebellar ataxia 47" "" + "erythrocytosis, familial, 5" "Any familial polycythemia in which the cause of the disease is a mutation in the EPO gene." "" + "short-rib thoracic dysplasia 19 with or without polydactyly" "" + "leukodystrophy, hypomyelinating, 14" "" + "Coffin-Siris syndrome 6" "Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the ARID2 gene." "" + "fibromatosis, gingival, 5" "" + "Suleiman-El-Hattab syndrome" "" + "combined oxidative phosphorylation deficiency 45" "" + "combined oxidative phosphorylation deficiency 46" "" + "combined oxidative phosphorylation deficiency 47" "" + "immunodeficiency 69" "" + "immunodeficiency 70" "" + "cone-rod synaptic disorder syndrome, congenital nonprogressive" "" + "Tolchin-Le Caignec syndrome" "" + "mitochondrial DNA depletion syndrome 19" "" + "neurodegeneration, infantile-onset, biotin-responsive" "" + "Li-Ghorbani-Weisz-Hubshman syndrome" "" + "myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies" "" + "optic atrophy 12" "" + "obsolete high density lipoprotein cholesterol level quantitative trait locus 7" "" "true" + "immunodeficiency 72 with autoinflammation" "" + "blood group, lewis system" "True" + "immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia" "" + "immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia" "" + "muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type b, 15" "" + "hemophagocytic lymphohistiocytosis, familial, 6" "" + "autoinflammation, immune dysregulation, and eosinophilia" "" + "intellectual developmental disorder with seizures and language delay" "" + "mitochondrial complex 1 deficiency, nuclear type 35" "" + "deeah syndrome" "" + "neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia" "" + "retinitis pigmentosa 90" "" + "oocyte maturation defect 8" "" + "oocyte maturation defect 9" "" + "combined oxidative phosphorylation deficiency 48" "" + "combined oxidative phosphorylation deficiency 49" "" + "combined oxidative phosphorylation deficiency 50" "" + "obsolete skeletal muscle glycogen content and metabolism quantitative trait locus" "" "true" + "intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies" "" + "neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities" "" + "spastic paraplegia 83, autosomal recessive" "" + "coenzyme q10 deficiency, primary, 9" "" + "Vissers-Bodmer syndrome" "" + "myopathy, epilepsy, and progressive cerebral atrophy" "" + "myofibrillar myopathy 10" "" + "spinal muscular atrophy, infantile, James type" "" + "spermatogenic failure 44" "" + "neurodevelopmental disorder with speech impairment and dysmorphic facies" "" + "combined oxidative phosphorylation deficiency 51" "" + "mitochondrial complex 4 deficiency, nuclear type 3" "" + "mitochondrial complex IV deficiency, nuclear-type" "" + "mitochondrial complex 4 deficiency, nuclear type 4" "" + "mitochondrial complex 4 deficiency, nuclear type 7" "" + "mitochondrial complex 4 deficiency, nuclear type 8" "" + "mitochondrial complex 4 deficiency, nuclear type 10" "" + "vitamin D-dependent rickets, type 3" "" + "cleft palate, proliferative retinopathy, and developmental delay" "" + "neurodevelopmental disorder with alopecia and brain abnormalities" "" + "inflammatory bowel disease 30" "" + "microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 1" "" + "mitochondrial complex 4 deficiency, nuclear type 11" "" + "mitochondrial complex 4 deficiency, nuclear type 12" "" + "mitochondrial complex 4 deficiency, nuclear type 14" "" + "mitochondrial complex 4 deficiency, nuclear type 15" "" + "mitochondrial complex 4 deficiency, nuclear type 16" "" + "mitochondrial complex 4 deficiency, nuclear type 17" "" + "mitochondrial complex 4 deficiency, nuclear type 18" "" + "mitochondrial complex 4 deficiency, nuclear type 19" "" + "mitochondrial complex 4 deficiency, nuclear type 20" "" + "mitochondrial complex 4 deficiency, nuclear type 21" "" + "leukodystrophy, hypomyelinating, 20" "" + "neurodevelopmental disorder with seizures and brain atrophy" "" + "neurodevelopmental disorder with microcephaly, seizures, and brain atrophy" "" + "Kilquist syndrome" "An autosomal recessive multisystem disorder characterized by neurologic, gastrointestinal, and secretory dysfunction. Affected individuals present at birth with hypotonia, feeding difficulties, mild dysmorphic features, and sensorineural hearing loss. They show poor overall growth associated with gastrointestinal anomalies such as gastroesophageal reflux or midgut malrotation, as well as profound global developmental delay with inability to sit or speak. Tear, sweat, and saliva production is also impaired, causing dry mouth and recurrent bronchial mucus plugging. Some of the clinical features are reminiscent of cystic fibrosis." "" + "hearing loss, autosomal dominant 78" "" + "Delpire-McNeill syndrome" "" + "hearing loss, autosomal dominant 79" "" + "Noonan syndrome 13" "" + "hearing loss, autosomal recessive 116" "" + "spermatogenic failure 45" "" + "Duane anomaly-myopathy-scoliosis syndrome" "Duane anomaly-myopathy-scoliosis syndrome is characterised by the association of bilateral Duane anomaly type 3, severe scoliosis of early onset, congenital myopathy with hypotonia without muscular weakness, delayed motor development, and short stature. It has been described in one pair of sibs. The Duane type 3 anomaly consists of eye abduction and adduction palsy, globe retraction and narrowing of the palpebral fissure. Muscular biopsy shows aspecific myopathy. Intellectual development is normal. The syndrome is most likely inherited in an autosomal recessive manner. It differs from the Crisfield-Dretakis-Sharpe syndrome, in which short stature and muscular features are absent. Surgery of the scoliosis is necessary. Functional prognosis depends on the severity of the visual handicap." "" + "spermatogenic failure 46" "" + "skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome" "" + "congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome" "" + "congenital cerebellar ataxia due to RNU12 mutation" "A rare hereditary ataxia characterized by delayed motor milestones in early infancy, hypotonia, ataxic gait, intention tremor, nystagmus, dysarthric speech, and variable learning difficulties. Neuroimaging shows a mixed picture of cerebellar hypoplasia and degeneration, with an almost absent inferior lobule and thinning of the folia of the vermis. In addition, cisterna magna and fourth ventricle are enlarged with relative sparing of the brain stem volume." "" + "isolated blepharochalasis" "" + "isolated iridoschisis" "" + "thygeson superficial punctate keratopathy" "An insidious, chronic and recurrent disorder, characterized by small and elevated oval corneal intraepithelial, whitish-gray opacities, extending to the entire anterior surface of the cornea of both eyes. Corneal lesions show a tendency for the central pupillary area distribution with mild or absent conjunctival inflammation and no association to systemic disease." "" + "Terrien marginal degeneration" "A distinct marginal thinning of the cornea which causes high degree of against-the-rule astigmatism" "" + "fungal keratitis" "" + "radiation-induced plexopathy" "" + "osteoradionecrosis of the mandible" "" + "osteoradionecrosis" "Necrosis of bone following radiation injury." "" + "autosomal recessive axonal charcot-marie-tooth disease due to copper metabolism defect" "" + "congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome" "" + "LAMA5-related multisystemic syndrome" "A rare genetic systemic or rheumatologic disease characterized by infantile onset of skin anomalies (such as delayed wound healing with atrophic scars and mild alopecia with dry and brittle hair), retinal rod degeneration with night blindness, degenerative myopathy with muscle weakness, myalgia, and cramps, osteoarthritis, joint laxity, prolapse of internal organs, floating kidney syndrome, malabsorption syndrome, and hypothyroidism. The phenotype has been reported to be more severe in women than in men. This is an n-of-1 use case where only one patient or family has been described with this disorder." "" + "primary autoimmune enteropathy" "" + "infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome" "" + "pediatric-onset Graves disease" "" + "prepubertal anorexia nervosa" "" + "obsolete hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome" "" "true" + "acquired angioedema with C1Inh deficiency" "" + "monoclonal mast cell activation syndrome" "" + "immune dysregulation with inflammatory bowel disease" "True" + "immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome" "" + "inflammatory bowel disease-recurrent sinopulmonary infections syndrome" "" + "RELA fusion-positive ependymoma" "" + "obsolete krt1-related diffuse nonepidermolytic keratoderma" "" "true" + "spondylodysplastic Ehlers-Danlos syndrome" "" + "Bethlem myopathy 2" "" + "congenital axonal neuropathy with encephalopathy" "A rare, congenital, autosomal recessive axonal hereditary motor and sensory neuropathy disease characterized by axonal neuropathy, manifesting at birth or shortly thereafter with generalized muscular hypotonia, prominently distal muscular weakness, respiratory/swallowing difficulties and diffuse areflexia, associated with central nervous system involvement, which includes progressive microcephaly, seizures, and global developmental delay. Additional variable manifestations include hearing impairment, ocular lesions, skeletal anomalies (e.g. talipes equinovarus, overriding toes, scoliosis, joint contractures), cryptorchidism, and dysmorphic features (such as coarse facies, hypertelorism, high-arched palate). Outcome is typically poor due to respiratory insufficiency and/or aspiration pneumonia." "" + "severe combined immunodeficiency due to CD70 deficiency" "" + "obsolete necrobiosis lipoidica" "" "true" + "optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome" "" + "SYNGAP1-related developmental and epileptic encephalopathy" "A rare genetic developmental and epileptic encephalopathy (DEE) characterized by developmental delay, generalized epilepsy consisting of eyelid myoclonia with absences and myoclonic-atonic seizures, intellectual disability and autism spectrum disorder (ASD)." "" + "infection-related hemolytic uremic syndrome" "" + "global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome" "" + "developmental and epileptic encephalopathy, 73" "" + "congenital myopathy with reduced type 2 muscle fibers" "" + "atypical Fanconi syndrome-neonatal hyperinsulinism syndrome" "" + "NAD(P)HX dehydratase deficiency" "" + "obsolete NAD(P)HX epimerase deficiency" "" "true" + "IgA pemphigus" "" + "pancreatic agenesis-holoprosencephaly syndrome" "" + "early-onset calcifying leukoencephalopathy-skeletal dysplasia" "" + "oculocerebrodental syndrome" "" + "spastic ataxia-dysarthria due to glutaminase deficiency" "" + "neonatal epileptic encephalopathy due to glutaminase deficiency" "" + "idiopathic gastroparesis" "" + "autosomal recessive extra-oral halitosis" "" + "primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome" "" + "syndromic congenital sodium diarrhea" "" + "methotrexate toxicity" "" + "resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha" "" + "primary desmosis coli" "A rare intestinal disease characterized by congenital partial or complete lack of the collagen mesh network in the intestinal wall, resulting in hypoperistalsis or aperistalsis. The enteric nervous system is normal or near-normal in the affected areas, although hypo- and dysganglionosis may be found in some proximal segments of the colon and/or small bowel. Patients present with chronic intractable slow transit constipation." "" + "iatrogenic Creutzfeldt-Jakob disease" "" + "intraductal tubulopapillary neoplasm of pancreas" "" + "serine biosynthesis pathway deficiency, infantile/juvenile form" "" + "isolated splenic vein thrombosis" "" + "isolated mesenteric vein thrombosis" "" + "acute myeloid leukemia with BCR-ABL1" "" + "PUM1-associated developmental disability-ataxia-seizure syndrome" "" + "myeloid/lymphoid neoplasm associated with JAK2 rearrangement" "" + "GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder" "" + "linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies" "" + "PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome" "" + "isolated melanotic schwannoma" "" + "localized dystrophic epidermolysis bullosa" "A localized form of dystrophic epidermolysis bullosa characterized by blisters confined primarily to the hands and feet (acral form) or to the pretibial region (pretibial form). Nail dystrophy or loss is common and may be an isolated finding (nail only form). This disease can be inherited via autosomal dominant or autosomal recessive inheritance." "" + "obsolete IgG4-related systemic disease" "" "true" + "portosinusoidal vascular disease" "" + "TRIM22-related inflammatory bowel disease" "Any inflammatory bowel disease in which the cause of the disease is a mutation in the TRIM22 gene." "" + "obsolete IRF2BPL-related regressive neurodevelopmental disorder-dystonia-seizures syndrome" "" "true" + "obsolete MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome" "" "true" + "ALPI-related inflammatory bowel disease" "Any inflammatory bowel disease in which the cause of the disease is a mutation in the ALPI gene." "True" + "multisystem inflammatory syndrome in children and adults" "" + "post-COVID-19 disorder" "A SARS-CoV-2-related disease that is caused by infection by SARS-CoV-2, and manifests after the original primary infection." "" + "obsolete hypomyelination of early myelinating structures" "" "true" + "Mills syndrome" "A rare, acquired motor neuron disease characterized by a slowly progressive, unilateral, ascending or descending hemplegia, associated to unilateral or asymmetrical pyramidal signs and no sensory loss. It is a diagnosis of exclusion and contorversy exists regarding whether the presence of bulbar symptoms, sphincter disturbances, fasciculations or cognitive manifestations characterize the disease." "" + "retinitis pigmentosa 81" "" + "short-rib thoracic dysplasia 18 with polydactyly" "" + "Charcot-Marie-Tooth disease, dominant intermediate G" "" + "obsolete rare childhood malignant neoplasm" "An infrequent malignant neoplasm that occurs during childhood." "True" "true" + "axillary neoplasm" "A benign or malignant neoplasm that affects the structures of the axilla. Representative examples include axillary lipoma, axillary lymph node lymphoma, and metastatic carcinoma to the axillary lymph nodes." "" + "benign ovarian mucinous tumor" "A non-metastasizing neoplasm that arises from the ovary and is characterized by the presence of neoplastic epithelium that resembles the epithelium of the endocervix or gastrointestinal tract. It includes mucinous adenofibroma, mucinous cystadenofibroma, and mucinous cystadenoma." "" + "punctate acrokeratoderma freckle-like pigmentation" "" + "benign Leydig cell tumor" "A Leydig cell tumor which does not recur or metastasize. Morphologically, there is no evidence of cellular atypia, increased mitotic activity, necrosis, or vascular invasion." "" + "lung germ cell tumor" "A germ cell tumor that arises from the lung." "" + "ovarian thecoma" "A stromal tumor that arises from the ovary and is characterized by the presence of cells that contain lipid and resemble theca cells. The vast majority of cases are benign." "" + "serous neoplasm" "" + "cauda equina cancer" "A cancer that involves the cauda equina." "" + "benign neoplasm of cauda equina" "A benign neoplasm that involves the cauda equina." "" + "glycosylphosphatidylinositol biosynthesis defect 16" "" + "ehlers-danlos syndrome, arthrochalasia type, 2" "" + "glucocorticoid deficiency 5" "" + "blepharocheilodontic syndrome 2" "Any blepharo-cheilo-odontic syndrome in which the cause of the disease is a mutation in the CTNND1 gene." "" + "autosomal dominant oculocutaneous albinism" "Autosomal dominant form of oculocutaneous albinism." "" + "class V glucose-6-phosphate dehydrogenase deficiency" "" + "malignant peritoneal germ cell tumor" "A malignant germ cell tumor that affects the peritoneum." "" + "subacute bursitis" "" + "orbital dermoid cyst" "A benign congenital tumor that affects the orbit. It is one of the most common orbital tumors. It is characterized by the presence of a cystic structure that is lined by keratinizing epithelium and contains adnexal structures. Complete surgical excision is curative." "" + "Campylobacter fetus infectious disease" "" + "latent tuberculosis infection" "Mycobacterium tuberculosis infection that does not induce infectious expression of the disease in the affected person, although it can cause continuous immune response generated towards TB antigens; person having LTBI are asymptomatic and acting as a reservoir of active tuberculosis tuberculosis cases and Mycobacterium tuberculosis and run a 5-10% risk of reactivating tuberculosis throughout their lives." "" + "obsolete vascular headache" "An outdated term to describe certain types of headache which were thought to be related to blood vessel swelling and hyperemia as cause of pain. it is no longer a recognized term and not mentioned in the Headache classification of the International Headache society (IHS)." "" "true" + "psychogenic polydipsia" "A form of primary polydipsia caused by underlying psychiatric symptoms, including those caused by psychoses and rarely by affective disorders." "" + "non-psychogenic polydipsia" "A form of primary polydipsia not caused by underlying psychiatric symptoms." "" + "latent early syphilis" "" + "late latent syphilis" "Latent syphilis when infection was acquired more than twelve months previously." "" + "latent yaws" "" + "obsolete superimposed infection" "" "true" + "obsolete contact dermatitis caused by poison oak" "" "true" + "postherpetic neuralgia" "" + "mixed anxiety and depressive disorder" "" + "central retinal vein occlusion with macular edema" "" + "malignant otitis externa caused by Pseudomonas aeruginosa" "An malignant otitis externa caused by infection with Pseudomonas aeruginosa." "" + "peripheral ischemia" "Deficient blood distribution to the limbs caused by narrowing or obstruction of the lumen of the peripheral arteries." "" + "carcinoid crisis" "A life-threatening complication of carcinoid syndrome, and is generally found in people who already have carcinoid syndrome. The crisis may occur suddenly, or it can be associated with stress, chemotherapy, or anesthesia." "" + "carcinoid syndrome" "" + "polymorphic light eruption" "" + "Rowell syndrome" "A form of lupus erythematosus (discoid or systemic) with annular lesions of the skin like erythema multiforme associated with a characteristic pattern of immunological abnormalities." "" + "diphtheritic myocarditis" "An myocarditis caused by infection with Corynebacterium diphtheriae." "" + "primary motor cortex epilepsy" "A epilepsy that involves the primary motor cortex." "" + "acute papillary necrosis" "Acute form of kidney papillary necrosis." "" + "acute epiglottitis" "Acute form of epiglottitis." "" + "toxic amblyopia" "A condition where a toxic reaction in the optic nerve results in visual loss. Various poisonous substances may cause the condition as well as nutritional factors." "" + "obsolete functional visual loss" "" "true" + "metastatic malignant neoplasm in the colon" "The spread of a malignant neoplasm to the colon. This may be from a primary large intestine malignant neoplasm, or from a malignant neoplasm at a distant site." "" + "metastasis from malignant tumor of colon" "" + "pregnancy disorder with abortive outcome" "" + "mesenteric lymphadenitis due to Yersinia infection" "An mesenteric lymphadenitis caused by infection with Yersinia pseudotuberculosis." "" + "Far-East scarlet-like fever" "A severe inflammatory disease that occurs sporadically and in outbreaks in Russia and Japan, caused by Yersinia pseudotubuclosis infection, an organism that typically causes self-limiting gastroenteritis in Europe." "" + "ST-elevation myocardial infarction" "A very serious type of heart attack during which one of the heart’s major arteries (one of the arteries that supplies oxygen and nutrient-rich blood to the heart muscle) is blocked. ST-segment elevation is an abnormality detected on the 12-lead ECG." "" + "multibacillary leprosy" "A lepromatous form of leprosy that is characterized by numerous infiltrated skin lesions displaying high bacillary loads, impaired peripheral nerves, possible involvement of internal organs, and a Th2-mediated immune response." "" + "paucibacillary leprosy" "A tuberculoid form of leprosy that is characterized by a small number of hypopigmented, well-bordered, anesthetic skin lesions with a low bacillary load, early peripheral nerve impairment, and a T-helper 1 (Th1)–mediated immune response." "" + "twin reversal arterial perfusion syndrome" "" + "intraoperative floppy iris syndrome" "" + "staphylococcus aureus pneumonia" "An pneumonia caused by infection with Staphylococcus aureus." "" + "fibrosis of bile duct" "" + "thallium poisoning" "" + "disseminated candidiasis" "Systemic candidiasis occurs when Candida yeast enters the bloodstream and may spread (becoming disseminated candidiasis) to other organs, including the central nervous system, kidneys, liver, bones, muscles, joints, spleen, or eyes." "" + "Yersinia enterocolitica infectious disease" "" + "mycotic endocarditis" "An endocarditis (disease) caused by infection with Fungi." "" + "endomyometritis" "An inflammation of the endometrium and the myometrium." "" + "tertiary lesion of yaws" "" + "Trichinella spiralis infectious disease" "An disease or disorder caused by infection with Trichinella spiralis." "" + "disseminated sporotrichosis" "" + "polyposis syndrome, hereditary mixed, 1" "" + "uterine cervix carcinoma in situ" "Stage 0 includes: (Tis, N0, M0). Tis: Carcinoma in situ. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th ed.) - 2003" "" + "neutropenia, severe congenital, 1, autosomal dominant" "" + "cervical squamous intraepithelial neoplasia" "A neoplastic process that affects the squamous epithelium of the cervix. It is classified as cervical squamous intraepithelial neoplasia 1, 2, or 3, according to the degree of squamous cell maturation and cellular atypia, and the number of mitotic figures." "" + "" "true" + "arteriosclerotic retinopathy" "A arteriosclerosis disorder that involves the retina." "" + "ergotism" "Poisoning caused by ingesting ergotized grain or by the misdirected or excessive use of ergot as a medicine." "" + "mycotoxicosis" "Poisoning caused by the ingestion of mycotoxins (toxins of fungal origin)." "" + "Ruzicka-Goerz-Anton syndrome" "" + "benign familial neonatal-infantile seizures 1" "" + "Sammartino-Decreccio syndrome" "" + "Samson-Gardner syndrome" "" + "Samson-Viljoen syndrome" "" + "Sanderson-Fraser syndrome" "" + "Sandhaus-Ben-Ami syndrome" "" + "Y chromosome infertility due to DAZ1 deletion" "" + "prostatic malacoplakia associated with prostatic abscess" "" + "Saul-Wilkes-Stevenson syndrome" "" + "macrocephaly, intellectual disability, short stature, spastic paraplegia and cns malformations" "" + "macrogyria, pseudobulbar palsy and intellectual disability" "" + "sacrococcygeal teratoma" "A teratoma that is found at the base of the coccyx. It is the most commonly seen tumor in newborns." "" + "Say-Carpenter syndrome" "" + "Schaap-Taylor-Baraitser syndrome" "" + "Schwartz-Cohen-addad-Lambert syndrome" "" + "Schlegelberger-Grote syndrome" "" + "Schrander-stumpel-Theunissen-Hulsmans syndrome" "" + "Schmitt-Gillenwater-Kelly syndrome" "" + "Vagneur-Triolle-Ripert syndrome" "" + "Saal-Bulas syndrome" "" + "Sackey-Sakati-Aur syndrome" "" + "sacral hemangiomas multiple congenital abnormalities" "" + "Slti-Salem syndrome" "" + "wandering spleen" "A condition characterized by an abnormal spleen position due to loss, weakness, or malformation of one or more of the ligaments that hold the spleen in its normal position in the left upper abdomen. It may present as a birth defect or follow injuries or pregnancy. Signs and symptoms include abdominal discomfort and splenomegaly." "" + "Machado-Joseph disease type 4" "A subtype of Machado-Joseph disease characterized by Parkinsonian symptoms that respond particularly well to levodopa treatment." "" + "Machado-Joseph disease type 5" "A subtype of Machado-Joseph disease characterized by resemblance to Hereditary Spastic Paraplegia; however, more research is needed to conclude the relationship between Type V MJD and hereditary spastic paraplegia." "" + "rheumatic disease of mitral valve" "A rheumatologic disorder that involves the mitral valve." "" + "partial duplication of the long arm of chromosome 12" "Chromosome 12q duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the long arm (q) of chromosome 12. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 12q duplication include developmental delay, intellectual disability, behavioral problems, growth delay, and distinctive facial features. Most cases are not inherited, but people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person." "" + "disorder of glutamate decarboxylase" "A disease that has its basis in the disruption of glutamate decarboxylase activity." "" + "meningococcemia" "" + "parainfluenza infectious disease" "A disease caused by infection with parainfluenza virus. There are four serotypes which cause respiratory illnesses in children and adults." "" + "pseudoachondroplastic dysplasia 2" "" + "trichoepithelioma, multiple familial, 1" "" + "" "true" + "hypokalemic periodic paralysis, type 1" "" + "Westphal disease" "" + "familial acanthosis nigricans" "An instance of acanthosis nigricans (disease) that is caused by an inherited modification of the individual's genome." "" + "Weil's disease" "A jauncice caused by severe leptospirosis." "" + "Zerres Rietschel Majewski syndrome" "" + "Zazam Sheriff Phillips syndrome" "" + "Zadik-Barak-Levin syndrome" "" + "neuroaxonal dystrophy renal tubular acidosis" "" + "weinstein kliman scully syndrome" "" + "acute articular rheumatism" "" + "coronal synostosis, syndactyly and jejunal atresia" "" + "chromosome 1, uniparental disomy 1q12 q21" "" + "thickened earlobes with conductive deafness from incus-stapes abnormalities" "" + "acute posterior multifocal placoid pigment epitheliopathy" "Acute posterior multifocal placoid pigment epitheliopathy (APMPPE) is an acquired, inflammatory eye condition affecting the retina, retinal pigment epithelium (pigmented layer of the retina), and choroid. It usually affects both eyes and is characterized by multiple, yellow-white lesions in the back of the eye. The condition can significantly impair visual acuity if the macula is involved. APMPPE typically resolves on its own in weeks to months. While the cause is unknown, about a third of cases appear to develop after a flu-like illness. Non-ocular symptoms are uncommon, but cerebral vasculitis can be present and may cause permanent and/or severe neurological complications." "" + "ichthyosis, follicular" "" + "holoacardius amorphus" "" + "Hordnes Engebretsen Knudtson syndrome" "" + "hypothalamic dysfunction" "Hypothalamic dysfunction refers to a condition in which the hypothalamus is not working properly. The hypothalamus produces hormones that control body temperature, hunger, moods, release of hormones from many glands such as the pituitary gland, sex drive, sleep, and thirst. The signs and symptoms patients havevary depending on the hormones missing.Anumber of different causes including anorexia, bleeding, genetic disorder, tumors, and more have been linked to hypothalamic dysfunction. Treatment depends on the cause of the hypothalamic dysfunction." "" + "hypothyroidism due to iodide transport defect" "A condition associated with reduced active import of iodide across the basolateral membrane of the follicular cells of the thyroid gland. Inactivating mutations in the SLC5A5 gene encoding the sodium-iodide symporter are responsible for the condition." "" + "ichthyosis linearis circumflexa" "" + "infantile striato thalamic degeneration" "" + "jones hersh yusk syndrome" "" + "lachiewicz sibley syndrome" "" + "Landy-Donnai syndrome" "" + "iida kannari syndrome" "" + "male pseudohermaphroditism due to defective lh molecule" "" + "massa casaer ceulemans syndrome" "" + "mcpherson robertson cammarano syndrome" "" + "mehta lewis patton syndrome" "" + "merlob grunebaum reisner syndrome" "" + "michels caskey syndrome" "" + "microcephaly micropenis convulsions" "" + "microcephaly microphthalmos blindness" "" + "isolated microcephaly" "" + "microcephaly sparse hair intellectual disability seizures" "" + "microdontia hypodontia short stature" "" + "microphthalmia microtia fetal akinesia" "" + "negative rheumatoid factor polyarthritis" "" + "neonatal ovarian cyst" "" + "nephrotic syndrome ocular anomalies" "" + "pagon stephan syndrome" "" + "palmer pagon syndrome" "" + "pancreatic lipomatosis duodenal stenosis" "" + "panostotic fibrous dysplasia" "" + "Pavone Fiumara Rizzo syndrome" "" + "pfeiffer rockelein syndrome" "" + "Pfeiffer Tietze Welte syndrome" "" + "phosphoribosylpyrophosphate synthetase deficiency" "" + "piepkorn karp hickok syndrome" "" + "obsolete Refsum disease with increased pipecolic acidemia" "" "true" + "podder-tolmie syndrome" "" + "pointer syndrome" "" + "pulmonary artery agenesis" "" + "radial defect robin sequence" "" + "richieri-costa guion-almeida cohen syndrome" "" + "rubinstein taybi like syndrome" "" + "ruvalcaba churesigaew myhre syndrome" "" + "short limb dwarf lethal colavita kozlowski type" "" + "trichostasis spinulosa" "Trichostasis spinulosa (TS) is a condition where instead of one hair protruding from a hair follicle, a bundle or bush of hair come out of a single follicle. This results in elevated, dark spiny papules on the head, face (usually the nose), and trunk. In this condition, there are numerous tiny open pores filled with multiple tiny short hairs, usually only visible with a magnifying glass. TS usually does not cause problems andmay only be noticed as an incidental finding. The exact cause is unknown." "" + "urethral obstruction sequence" "" + "migraine with brainstem aura" "A migraine disorder characterized by episodes that are preceded by focal neurological symptoms originating in the brainstem." "" + "multi-infarct dementia" "A common form of dementia caused by multiple cortical or subcortical cerebral infarctions." "" + "postpartum amenorrhea-galactorrhea syndrome" "" + "ciguatera fish poisoning" "Poisoning caused by ingestion of seafood containing microgram levels of ciguatoxins. The poisoning is characterized by gastrointestinal, neurological and cardiovascular disturbances." "" + "exfoliative dermatitis" "The widespread involvement of the skin by a scaly, erythematous dermatitis occurring either as a secondary or reactive process to an underlying cutaneous disorder (e.g., atopic dermatitis, psoriasis, etc.), or as a primary or idiopathic disease. It is often associated with the loss of hair and nails, hyperkeratosis of the palms and soles, and pruritus. (From Dorland, 27th ed)" "" + "glossodynia" "Painful sensations in the tongue, including a sensation of burning." "" + "hemophilic arthropathy" "A form of arthritis that affects hemophiliacs, which is characterized by bleeding into the joint space." "" + "Mallory-Weiss syndrome" "A disorder characterized by upper gastrointestinal tract bleeding caused by longitudinal mucosal tears in the gastroesophageal junction. The tears result from retching or forceful coughing. It was initially described in alcoholics." "" + "odontoma" "A benign, slow growing, and painless hamartomatous tumor occurring in tooth-bearing areas of the jaws. According to the presence or absence of tooth-like structures, it is classified as complex type or compound type. Odontoma of complex type is characterized by the presence of enamel and dentin and the absence of tooth-like structures. It is treated with local excision. If it is incompletely removed, it may recur. Odontoma of compound type is characterized by the presence of tooth-like structures. It is treated by local excision. Recurrences have not been reported." "" + "papular urticaria" "" + "pemphigus and fogo selvagem" "" + "post-traumatic epilepsy" "Recurrent seizures causally related to CRANIOCEREBRAL TRAUMA. Seizure onset may be immediate but is typically delayed for several days after the injury and may not occur for up to two years. The majority of seizures have a focal onset that correlates clinically with the site of brain injury. Cerebral cortex injuries caused by a penetrating foreign object (CRANIOCEREBRAL TRAUMA, PENETRATING) are more likely than closed head injuries (HEAD INJURIES, CLOSED) to be associated with epilepsy. Concussive convulsions are nonepileptic phenomena that occur immediately after head injury and are characterized by tonic and clonic movements. (From Rev Neurol 1998 Feb;26(150):256-261; Sports Med 1998 Feb;25(2):131-6)" "" + "rheumatoid vasculitis" "Necrotizing VASCULITIS of small and medium size vessels, developing as a complication in RHEUMATOID ARTHRITIS patients. It is characterized by peripheral vascular lesions, cutaneous ulcers, peripheral gangrene, and mononeuritis multiplex." "" + "TORCH syndrome" "A syndrome that results from a group of infections that affect the fetus or the newborn. The group of infections includes Toxoplasma gondii, rubella, cytomegalovirus, herpes simplex virus, and other infections. The other infections include varicella-zoster virus, hepatitis B virus, human immunodeficiency virus, parvovirus B19, and syphilis. Signs and symptoms include fever, feeding difficulties, petechial rash, jaundice, hepatosplenomegaly, chorioretinitis, and microcephaly." "" + "mosaic trisomy 6" "Trisomy 6 is a rare prenatal finding. Trisomy 6 conceptions have not been observed in the large case reports of chromosomal mosaicism detected during chorionic villus sampling (Hahnemann & Vejerslev 1997)." "" + "Wallerian degeneration" "A condition caused by degeneration, atrophy, and destruction of the distal part of a nerve fiber's axon and myelin, when continuity with the neural cell nucleus has been severed due to injury. Signs and symptoms include muscle weakness, altered sensation, and limb numbness." "" + "silicosiderosis" "" + "superior vena cava syndrome" "Obstruction of the blood flow in the superior vena cava caused by a malignant neoplasm, thrombosis, or aneurysm. It is a medical emergency requiring immediate treatment. Signs and symptoms include swelling and cyanosis of the face, neck, and upper arms, cough, orthopnea, and headache." "" + "Rokitansky-Aschoff sinuses of the gallbladder" "An abnormality characterized by macroscopic or microscopic outpouchings of gallbladder mucosa into the muscle of the gallbladder wall. It may be associated with cholecystitis or gallstones." "" + "linear scleroderma" "A type of localized scleroderma characterized by a long strip of indurated skin, which is typically found unilaterally on an arm or leg, and sometimes on the forehead or trunk. This disorder often affects the tissues beneath the skin, causing damage to bones, muscle or other organs. It can limit movement, alter growth, and disfigure the affected area." "" + "vibrio vulnificus infectious disease" "An disease or disorder caused by infection with Vibrio vulnificus." "" + "actinic cheilitis" "" + "hyperacusis" "A disorder in which an individual has an abnormally low noise tolerance, and increased sensitivity to sounds." "" + "amaurosis fugax" "Transient complete or partial monocular blindness due to retinal ischemia. This may be caused by emboli from the CAROTID ARTERY (usually in association with CAROTID STENOSIS) and other locations that enter the central RETINAL ARTERY. (From Adams et al., Principles of Neurology, 6th ed, p245)" "" + "aquarium granuloma" "A skin condition caused by Mycobacterium marinum, characterized by a skin lesion that presents roughly three weeks after exposure." "" + "amyopathic dermatomyositis" "Amyopathic dermatomyositis is a form of dermatomyositis characterized by the presence of typicalskin findingswithout muscle weakness.Some of the skinchanges that suggest dermatomyositis include a pink rash on the face, neck, forearms and upper chest; Gottron's papules and heliotrope eyelids. Pruritis and photosensitivity are common, as is scalp inflammation and thinning of the hair.While patients with amyopathic dermatomyositis should not have clinically evident muscle weakness, minor muscle abnormalities may be included.Fatigue is reported in at least 50% of patients. Some cases have beenassociated with internal malignancy and/or interstitial lung disease. Treatment may include sun avoidance, ample use of sunscreen, topical corticosteroids, antimalarial agents, methotrexate, mycophenolate mofetil, or intravenous (IV) immunoglobulin." "" + "piriformis syndrome" "A condition referring to irritation or compression of the proximal sciatic nerve, secondary to contraction of the piriformis muscle. It results in pain in the hip or the back of the leg mimicking disk-related sciatica." "" + "Mirizzi syndrome" "Complication of cholelithiasis characterized by obstructive jaundice; abdominal pain, and fever." "" + "lathyrism" "A paralytic condition of the legs caused by ingestion of lathyrogens, especially beta-aminopropionitrile or beta-N-oxalyl amino-L-alanine, which are found in the seeds of plants of the genus lathyrus." "" + "Chilaiditi syndrome" "Interposition of a portion of the colon (e.g., sigmoid colon) between the liver and the diaphragm. It is associated with abdominal pain, vomiting, constipation, anorexia and volvulus. Chilaiditi anomaly refers to asymptomatic interposition." "" + "progressive transformation of germinal centers" "Progressive transformation of germinal centers is a condition in which a lymph node becomes very enlarged (lymphadenopathy). Typically, only one lymph node is affected, though PTGC can involve multiple lymph nodes. Theneck is the most common location of affected lymph nodes, but PTGC may also affect lymph nodes in the groin and armpits. adults are more frequently affected than children, but children have a higher chance of developing PTGC multiple times (recurrence). PTGC is not considered a precancerous condition, though it has been associated with Hodgkin lymphoma." "" + "intravascular papillary endothelial hyperplasia" "A reactive, well-circumscribed vascular lesion. It is characterized by the formation of thin papillae projecting within the lumen of blood vessels. The papillae are lined by plump endothelial cells. Blood clots are also present." "" + "fournier gangrene" "An acute necrotic infection of the SCROTUM; PENIS; or PERINEUM. It is characterized by scrotum pain and redness with rapid progression to gangrene and sloughing of tissue. Fournier gangrene is usually secondary to perirectal or periurethral infections associated with local trauma, operative procedures, or urinary tract disease." "" + "collagenous gastritis" "A rare type of gastritis characterized by gastric subepithelial collagen deposition and inflammatory infiltrates in the lamina propria. The pathogenesis of this disorder is unclear although an association with autoimmune disorders has been reported. It affects both children and adults. Children present with iron deficiency anemia and have a nodular stomach on gastroscopy. adults present with chronic watery diarrhea and may have an associated collagenous colitis." "" + "engraftment syndrome" "A toxicity of hematopoietic stem cell transplantation that manifests as fever, rash and pulmonary deterioration which becomes evident at marrow engraftment. It occurs unexpectedly and is occasionally fatal. It can occur after an autogeneic or an allogeneic hematopoietic cell transplantation." "" + "May-Thurner syndrome" "A compression of ILIAC VEIN that results in a decreased flow in the vein and in the left LOWER EXTREMITY due to a vascular malformation. It may result in left leg EDEMA, pain, iliofemoral DEEP VENOUS THROMBOSIS and POSTTHROMBOTIC SYNDROME. Compression of the left common ILIAC VEIN by the right common ILIAC ARTERY against the underlying fifth LUMBAR VERTEBRA is the typical underlying malformation." "" + "eosinophil peroxidase deficiency" "A rare abnormality of eosinophil granulocytes characterized by decreased or absent peroxidase activity and decreased volume of the granule matrix." "" + "secondary adrenal insufficiency" "A hormonal disorder that occurs when lack of corticotropin-releasing hormone (CRH) secretion from the hypothalamus or adrenocorticotropic hormone (ACTH) secretion from the pituitary is responsible for hypofunction of the adrenal cortex." "" + "sudden sensorineural hearing loss" "Sensorineural hearing loss which develops suddenly over a period of hours or a few days. It varies in severity from mild to total deafness. Sudden deafness can be due to head trauma, vascular diseases, infections, or can appear without obvious cause or warning." "" + "juvenile spondyloarthropathy" "A group of chronic, inflammatory childhood diseases characterized by arthritis and enthesitis. This disorder can affect the axial skeleton in late childhood or young adulthood." "" + "humoral hypercalcemia of malignancy" "Hypercalcemia generally develops as a late complication of malignancy; its appearance has grave prognostic significance. It remains unclear, however, whether death is associated with hypercalcemic crisis (uncontrolled or recurrent progressive hypercalcemia) or with advanced disease. Symptoms include central nervous system impairment such as delirium with prominent symptoms of personality change, cognitive dysfunction, disorientation, incoherent speech, and psychotic symptoms such as hallucinations and delusions, smooth muscle hypotonicity, and altered cardiovascular function." "" + "radiation injury" "Harmful effects of non-experimental exposure to ionizing or non-ionizing radiation in VERTEBRATES." "" + "achlorhydria" "Absence of hydrochloric acid in the gastric juice." "" + "acne keloid" "A chronic eruption of fibrous papules that develop and fuse to form a thick sclerotic, hypertrophic band at a site of deep folliculitis, usually along the posterior hairline of the scalp. It is most commonly seen in men of African descent." "" + "ectopic ACTH secretion syndrome" "A syndrome characterized by abnormal secretion of adrenocorticotrophic hormone in conjunction with neoplastic growth occurring anywhere in the body. The most common associations are tumors of the bronchus (oat cell or carcinoid), thymic tumors (epithelial or carcinoid), and pancreatic endocrine tumor. (DeVita et al. Cancer, p 1364. 4th edition. Lippincott)" "" + "Adams-Stokes syndrome" "An episode of sudden and transient loss of consciousness sometimes associated with seizures. It is caused by a sudden decrease of the cardiac output that results from a sudden cardiac dysrhythmia. Typically patients develop an initial pallor, followed by facial flush during recovery." "" + "nervous system injury" "Traumatic injuries to the brain, cranial nerves, spinal cord, autonomic nervous system, or neuromuscular system, including iatrogenic injuries induced by surgical procedures." "" + "traumatic encephalopathy" "Encephalopathy resulting from trauma." "" + "burn" "A traumatic injury involving interruption of tissue cohesiveness that results from exposure to caustic chemicals, extreme heat, extreme cold or excessive radiation." "" + "cadmium poisoning" "Poisoning occurring after exposure to cadmium compounds or fumes. It may cause gastrointestinal syndromes, anemia, or pneumonitis." "" + "carcinoid heart disease" "Cardiac manifestation of gastrointestinal CARCINOID TUMOR that metastasizes to the liver. Substances secreted by the tumor cells, including SEROTONIN, promote fibrous plaque formation in ENDOCARDIUM and its underlying layers. These deposits cause distortion of the TRICUSPID VALVE and the PULMONARY VALVE eventually leading to STENOSIS and valve regurgitation." "" + "iatrogenic disease" "Any adverse condition in a patient occurring as the result of treatment by a physician, surgeon, or other health professional, especially infections acquired by a patient during the course of treatment." "" + "crush syndrome" "A medical condition characterized by major shock and renal failure after a crushing injury to skeletal muscle." "" + "infantile diarrhea" "Diarrhea occurring in infants from newborn to 24-months old." "" + "endarteritis" "Inflammation of the arterial intima." "" + "femoral neck fracture" "Fractures of the short, constricted portion of the thigh bone between the femur head and the trochanters. It excludes intertrochanteric fractures which are HIP FRACTURES." "" + "obsolete pathologic fracture" "A traumatic break in an area of bone that has been weakened by another disease process." "" "true" + "herpes labialis" "A lesion caused by type 1 or type 2 herpes simplex virus, typically involving the oralfacial region." "" + "Leriche syndrome" "An atherosclerotic disorder of the peripheral vascular system affecting mostly males in their later decades. It is caused by thrombotic occlusion of the abdominal aorta just above the level of the bifurcation. Clinical signs include impotence, intermittent claudication, diminished femoral pulses and cold, pallid lower extremities. Prognosis is favorable with surgical or endovascular intervention." "" + "Monteggia's fracture" "Fracture in the proximal half of the shaft of the ulna, with dislocation of the head of the radius." "" + "multiple organ dysfunction syndrome" "The development of potentially reversible physiologic derangement involving two or more organ systems not involved in the disorder that resulted in intensive care unit (ICU) admission, and arising in the wake of a potentially life-threatening physiologic insult." "" + "lytic metastatic bone lesion" "Dissolution of bone that particularly involves the removal or loss of calcium." "" + "abdominal ectopic pregnancy" "Ectopic pregnancy characterized by the implantation of the embryo in the peritoneal cavity or abdominal organs." "" + "tubal pregnancy" "An abnormal pregnancy in which the conception is implanted in the fallopian tube." "" + "presbycusis" "Bilateral hearing loss caused by progressive degeneration of cochlear structures and central auditory pathways, typically associated with the aging process." "" + "respiratory paralysis" "Complete or severe weakness of the muscles of respiration. This condition may be associated with motor neuron diseases; peripheral nerve diseases; neuromuscular junction diseases; spinal cord diseases; injury to the phrenic nerve; and other disorders." "" + "rhinophyma" "Progressive enlargement of the nose due to hypertrophy of the sebaceous glands of the tip of the nose and fibrosis. It usually affects older men and is associated with long-standing acne rosacea. It presents as a pink lobulated mass with dilated vessels in the nose." "" + "sclerema neonatorum" "A diffuse hardening of skin and subcutaneous adipose tissue, associated with minimal inflammation without fat necrosis, that typically affects critically ill preterm neonates during the first week of life." "" + "serum sickness" "Delayed-type hypersensitivity reaction to foreign proteins derived from an animal serum. It occurs approximately six to twenty one days following the administration of the foreign antigen. Symptoms include fever, arthralgias, myalgias, skin eruptions, lymphadenopathy, chest pain, and dyspnea. Certain drugs (e.g., antibiotics, anticancer agents, and anti-inflammatory medications) and infectious disorders (e.g., hepatitis B) may also cause serum sickness-like reaction." "" + "spinal cord injury" "Penetrating and non-penetrating injuries to the spinal cord resulting from traumatic external forces (e.g., WOUNDS, GUNSHOT; WHIPLASH INJURIES; etc.)." "" + "tuberculosis, spinal" "Tuberculosis of the vertebrae." "" + "voice disorders" "A pathologic process in the larynx that affects the production of speech. Causes include vocal cord paresis, vocal cord nodule, vocal cord polyp, and laryngitis." "" + "tumor lysis syndrome" "A condition of metabolic abnormalities that result from a spontaneous or therapy-related cytolysis of tumor cells. Tumor lysis syndrome typically occurs in aggressive, rapidly proliferating lymphoproliferative disorders. Burkitt lymphoma and T cell acute lymphoblastic leukemia are commonly associated with this syndrome. Metabolic abnormalities include hyperuricemia, lactic acidosis, hyperkalemia, hyperphosphatemia and hypocalcemia and may result in renal failure, multiple organ failure, and death." "" + "obsolete acute eosinophilic leukemia" "A poorly defined concept which at best is described as an extremely rare entity, possibly related to various subtypes of acute myeloid leukemia with abnormal eosinophils. (WHO, 2001)" "" "true" + "prosthesis-related infectious disease" "A bacterial infection related to a device used to replace a missing body part. The infection may occur during the operation from direct contamination or post-operatively through hematogenous spread." "" + "ankle injury" "Harm or hurt to the ankle or ankle joint usually inflicted by an external source." "" + "leishmaniasis, diffuse cutaneous" "A form of LEISHMANIASIS, CUTANEOUS caused by Leishmania aethiopica in Ethiopia and Kenya, L. pifanoi in Venezuela, L. braziliensis in South America, and L. mexicana in Central America. This disease is characterized by massive dissemination of skin lesions without visceral involvement." "" + "radiation pneumonitis" "Inflammation of the lung due to harmful effects of ionizing or non-ionizing radiation." "" + "lichen planus, oral" "A chronic, autoimmune inflammatory condition of the mucous membranes in the oral cavity that affects approximately two percent of the population and is most often seen in middle aged women. It is characterized by white, lacy patches; red, swollen tissue; papules and plaques; or open sores. The lesions are typically bilateral." "" + "pseudolymphoma" "A neoplastic process that resembles a malignant lymphoma, but has a benign course." "" + "nocturnal paroxysmal dystonia" "A parasomnia characterized by paroxysmal episodes of choreoathetotic, ballistic, dystonic movements, and semipurposeful activity. The episodes occur during non-rapid eye movement sleep and typically recur several times per night." "" + "autonomic dysreflexia" "A syndrome associated with damage to the spinal cord above the mid thoracic level (see SPINAL CORD INJURIES) characterized by a marked increase in the sympathetic response to minor stimuli such as bladder or rectal distention. Manifestations include HYPERTENSION; TACHYCARDIA (or reflex bradycardia); FEVER; FLUSHING; and HYPERHIDROSIS. Extreme hypertension may be associated with a STROKE. (From Adams et al., Principles of Neurology, 6th ed, pp538 and 1232; J Spinal Cord Med 1997;20(3):355-60)" "" + "cubital tunnel syndrome" "Compression of the ULNAR NERVE in the cubital tunnel, which is formed by the two heads of the flexor carpi ulnaris muscle, humeral-ulnar aponeurosis, and medial ligaments of the elbow. This condition may follow trauma or occur in association with processes which produce nerve enlargement or narrowing of the canal. Manifestations include elbow pain and PARESTHESIA radiating distally, weakness of ulnar innervated intrinsic hand muscles, and loss of sensation over the hypothenar region, fifth finger, and ulnar aspect of the ring finger. (Joynt, Clinical Neurology, 1995, Ch51, p43)" "" + "central nervous system lupus" "Inflammation that includes the brain, spinal cord and surrounding tissues secondary to systemic lupus erythematosus (SLE); it is associated with neurological and/or psychiatric features." "" + "zoster sine herpete" "Herpes zoster but without eruption of vesicles. Patients exhibit the characteristic pain minus the skin rash, sometimes making diagnosis difficult." "" + "acute cholecystitis" "Acute inflammation of the gallbladder." "" + "hearing loss, mixed conductive-sensorineural" "Hearing loss characterized by a combination of conductive and sensorineural hearing loss. It is caused by problems in both the inner ear and middle or outer ear." "" + "postpartum thyroiditis" "A transient autoimmune Inflammatory disorder of thyroid gland that occurs postpartum due to any partum problem. It is characterized by the presence of high titers of autoantibodies against thyroid peroxidase and thyroglobulin. Clinical signs include the triphasic thyroid hormone pattern: beginning with thyrotoxicosis, followed with hypothyroidism, then return to euthyroid state by 1 year postpartum" "" + "posterior leukoencephalopathy syndrome" "An acute or subacute reversible condition characterized by headaches, mental status changes, visual disturbances, and seizures associated with imaging findings of posterior leukoencephalopathy. It has been observed in association with hypertensive encephalopathy, eclampsia, and immunosuppressive and cytotoxic drug treatment." "" + "livedo reticularis" "A condition characterized by a reticular or fishnet pattern on the skin of lower extremities and other parts of the body. This red and blue pattern is due to deoxygenated blood in unstable dermal blood vessels. The condition is intensified by cold exposure and relieved by rewarming." "" + "candidiasis, invasive" "A fungal infection by any of the Candida species in a sterile body compartment." "" + "candidemia" "A form of invasive candidiasis where species of candida are present in the blood." "" + "cardio-renal syndrome" "A disorder of the heart and kidneys in which dysfunction of one of the organs induces dysfunction of the other organ." "" + "collagenous sprue" "A rare disorder affecting the digestive tract. Its cause is unclear but may be attributed, in part, to increased collagen synthesis without adequate fibrolysis. It is characterized histologically by atrophy of mucosal villi and crypts with extensive subepithelial collagen deposition. Clinical signs include nausea, vomiting, diarrhea and weight loss. Unlike celiac sprue (celiac disease), a gluten-free diet does not predict a certain regression of the disease. The clinical course follows a progression of malabsorption leading to nutritional deficiencies, small bowel ulceration/perforation, lymphoma and infection. Prognosis is usually dismal." "" + "ovarian ectopic pregnancy" "An abnormal pregnancy in which the conception is implanted on the ovary." "" + "pregnancy, cornual" "An abnormal pregnancy in which the conception is implanted and develops in the cornu of uterus." "" + "bullous systemic lupus erythematosus" "A manifestation of systemic lupus erythematosus with a widespread vesiculobullous eruption." "" + "hyalitis" "Inflammatory intraocular reaction with clouding and cells in vitreous; often accompanies inflammation of ciliary body, iris, choroid, or retina." "" + "panic disorder without agoraphobia" "A disorder in which an individual experiences recurrent, unexpected panic attacks and persistent concern about having additional panic attacks. Agoraphobia is not a component of this disorder." "" + "panic disorder with agoraphobia" "A disorder in which an individual experiences recurrent, unexpected panic attacks and persistent concern about having additional panic attacks. Agoraphobia is a component of this disorder." "" + "Shwachman-Diamond syndrome 1" "" + "Shwachman-Diamond syndrome 2" "Shwachman-Diamond syndrome-2 (SDS2) is characterized by exocrine pancreatic dysfunction, hematopoietic abnormalities, short stature, and metaphyseal dysplasia ({1:Stepensky et al., 2017}).nnFor a discussion of genetic heterogeneity of Shwachman-Diamond syndrome, see SDS1 (OMIM:260400)." "" + "otospondylomegaepiphyseal dysplasia, autosomal recessive" "" + "specific granule deficiency 1" "Any specific granule deficiency in which the cause of the disease is a mutation in the CEBPE gene." "" + "specific granule deficiency 2" "Specific granule deficiency-2 is an autosomal recessive immunologic disorder characterized by recurrent infections due to defective neutrophil development. Bone marrow findings include hypercellularity, abnormal megakaryocytes, and features of progressive myelofibrosis with blasts. The disorder is apparent from infancy, and most patients die in early childhood unless they undergo hematopoietic stem cell transplantation. Some patients may have additional findings, including delayed development, mild dysmorphic features, and distal skeletal anomalies (summary by {2:Witzel et al., 2017}).nnFor a discussion of genetic heterogeneity of SGD, see SGD1 (OMIM:245480)." "" + "thalassemia minor" "The inheritance of only one mutated beta-globin allele (beta+ or beta0)." "" + "idiopathic urticaria" "" + "chronic idiopathic urticaria" "Chronic form of idiopathic urticaria." "" + "acute idiopathic urticaria" "Acute form of idiopathic urticaria." "" + "obsolete androstenone, ability to smell" "" "true" + "obsolete arm folding preference" "" "true" + "obsolete artichoke, modification of taste by" "" "true" + "obsolete asparagus, specific smell hypersensitivity" "" "true" + "obsolete beeturia" "" "true" + "obsolete blood group, duffy system" "The Duffy blood group system, which consists of 4 alleles, 5 phenotypes, and 5 antigens, is important in clinical medicine because of transfusion incompatibilities and hemolytic disease of the newborn. Duffy antigens are located on ACKR1 (OMIM:613665), or DARC, an acidic glycoprotein found on erythrocytes and other cells throughout the body. The 2 principal antigens, Fy(a) and Fy(b), are produced by the FYA and FYB codominant alleles (see {613665.0001}). Four phenotypes are defined by the corresponding antibodies, anti-Fy(a) and anti-Fy(b): Fy(a+b-), Fy(a-b+), Fy(a+b+), and Fy(a-b-). Fy(a-b-), or Duffy null, is the major phenotype in African and American blacks and is characterized by the presence of Fy(b) on nonerythroid cells, but an absence of Fy(b) on erythrocytes. The Fy(a-b-) phenotype is associated with complete resistance to infection by the malarial parasite Plasmodium vivax (see OMIM:611162). Individuals with the Fy(a-b-) phenotype have the FYB-erythroid silent (FYB-ES) allele with a mutation in the DARC promoter ({613665.0002}). A fifth phenotype, Fy(bwk), or Fy(x), is characterized by weak Fy(b) expression on erythrocytes due to a reduced amount of protein. Individuals with the Fy(bwk) phenotype have the FYB-weak (FYB-WK) allele, also called the FYX allele, with a missense mutation in DARC ({613665.0003}). Other Duffy antigens include Fy3, Fy4, Fy5, and Fy6 (reviews by {21:Pogo and Chaudhuri (2000)}, {10:Langhi and Bordin (2006)}, and {14:Meny (2010)})." "" "true" + "obsolete blood group, 1 system" "" "true" + "obsolete blood group--lutheran inhibitor" "" "true" + "obsolete blood group, p1pk system" "" "true" + "obsolete radin blood group antigen" "" "true" + "obsolete apocrine gland secretion, variation 1n" "" "true" + "obsolete creatine kinase, brain type, ectopic expression of" "" "true" + "obsolete defective interfering particle induction, control of" "" "true" + "obsolete dimples, facial" "" "true" + "obsolete eegbqtl" "Since the initial discovery of the human electroencephalogram (EEG) by {1:Berger (1929)}, it has been speculated that neural oscillations play a broad role in nervous systems and form the basis for higher cognitive functions and consciousness. The presence of a beta/gamma oscillation (18 to 50 Hz) is thought to represent an activated state of the underlying neuronal network. These beta (12-29 Hz) and gamma (30-50 Hz) brain rhythms involve gamma-aminobutyric acid type A (GABA-A) receptor action ({2:Haenschel et al., 2000}; summary by {3:Porjesz et al., 2002})." "" "true" + "obsolete epiblepharon of lower 51d" "" "true" + "obsolete epiblepharon of upper 51d" "" "true" + "obsolete eyebrow, whorl 1n" "" "true" + "obsolete fingers, relative length of" "" "true" + "obsolete hair whorl" "" "true" + "obsolete hrm2" "" "true" + "obsolete hsr" "" "true" + "obsolete hepatitis b vaccine, response to" "More than 2 billion people have been infected with the hepatitis B virus (HBV; see OMIM:610424), and more than 350 million of these people are chronic carriers. Each year more than half a million die as a result of acute or chronic HBV infection. Vaccination has been highly successful at preventing new HBV infections and has been implemented into the national immunization programs of more than 150 countries. However, the immune response to HBV vaccination varies greatly among individuals, with 5 to 10% of healthy adults failing to produce protective levels of antibodies. Several factors have been implicated in determining the response to HBV vaccination, including physical factors, such as age, gender, obesity, immunosuppression, and smoking, as well as variation in genes of the immune system (summary by {2:Davila et al., 2010})." "" "true" + "obsolete hypercholesterolemia suppressor" "" "true" + "obsolete lunulae of fingernails" "" "true" + "obsolete median-ulnar nerve communications" "" "true" + "obsolete musical perfect pitch" "Perfect pitch, or absolute pitch (AP), is defined as the ability immediately and effortlessly to name a note or collection of notes when they are sounded. Often, persons with perfect pitch possess a memory capacity whereby they can remember the pitch of a note and the configuration of a group or series of notes after a significant interval of time has elapsed. These recognitive and memory talents involve a potential capacity for performing these functions together with a practice factor which is necessary for the maintenance of the skills at the highest level (summary by {12:Profita and Bidder, 1988}). Absolute pitch likely results from a combination of environmental and genetic factors ({16:Theusch et al., 2009})." "" "true" + "obsolete mydriatic response to pharmacologic agents" "" "true" + "obsolete mydriasis, congenital" "" "true" + "obsolete nail high-sulfur protein" "" "true" + "obsolete nail low-sulfur protein" "" "true" + "obsolete nailbeds, pigmentation of" "" "true" + "obsolete nystagmus, voluntary" "Voluntary nystagmus is a rapid to-and-fro synchronous movement of the eyes that is initiated and maintained by conscious effort. Voluntary nystagmus has a frequency of 10-25 Hz, with an amplitude of up to 6 degrees, and can be maintained for up to 35 seconds. It usually has its first appearance between ages 8 to 15 years. It can be produced in both light and darkness, without fixation, at all eye positions, and even with closed eyes. It is accompanied by oscillopsia with visual blurring (summary by {1:Aschoff et al., 1976})." "" "true" + "obsolete palmomental reflex" "" "true" + "obsolete thiourea tasting" "The sense of bitter taste is mediated by a group of bitter taste receptor proteins that reside on the surface of taste cells within the taste buds of the tongue. These proteins are 7-transmembrane domain, G protein-coupled receptors that are encoded by the TAS2R gene family (see TAS2R10; OMIM:604791), which contains at least 25 functional genes ({22:Kim et al., 2005}).nnHumans worldwide display a bimodality in sensitivity to the bitter taste of PTC, with approximately 75% of individuals perceiving it as intensely bitter, whereas the rest perceive it as tasteless. This difference has been the basis of study of taste perception in humans for over 70 years. {21:Kim and Drayna (2004)} provided an historical review of the subject.nnPropylthiouracil (PROP) and PTC are members of a class of compounds known as thioureas. The compounds carry the chemical group N-C=S, which is responsible for their characteristic bitter taste ({3:Bartoshuk et al., 1994}; {10:Drewnowski and Rock, 1995})." "" "true" + "obsolete alkaline phosphatase, plasma level of, quantitative trait locus 1" "" "true" + "obsolete tongue curling, folding, or rolling" "" "true" + "obsolete australia antigen" "" "true" + "obsolete skin/hair/eye pigmentation, variation in, 6" "" "true" + "obsolete dermatoglyphics--palmar triradius d, absence of" "" "true" + "obsolete dermatoglyphics--hypothenar radial arch" "" "true" + "obsolete skin/hair/eye pigmentation, variation in, 1" "Multiple genes influence normal human skin, hair, and/or eye pigmentation. Pigmentation phenotypes influenced by variation in the OCA2 gene are termed SHEP1. The SHEP2 association (OMIM:266300) is determined by variation at the MC1R locus (OMIM:155555) and describes a phenotype predominantly characterized by red hair and fair skin. SHEP3 (OMIM:601800) encompasses pigment variation influenced by the TYR gene (OMIM:606933); SHEP4 (OMIM:113750), that influenced by the SLC24A5 gene (OMIM:609802). Variation in the SLC45A2 (OMIM:606202) and SLC24A4 (OMIM:609840) genes result in the phenotypic associations SHEP5 (OMIM:227240) and SHEP6 (OMIM:210750), respectively. Sequence variation thought to affect expression of KITLG (OMIM:184745) results in the SHEP7 (OMIM:611664) phenotypic association. SHEP8 (OMIM:611724) is associated with variation in the IRF4 gene (OMIM:601900). Polymorphism in the 3-prime untranslated region of the ASIP gene (OMIM:600201) influences the SHEP9 association (OMIM:611742). The SHEP10 association (OMIM:612267) comprises variation in the TPCN2 gene (OMIM:612163), and SHEP11 (OMIM:612271) is associated with polymorphism near the TYRP1 gene (OMIM:115501)." "" "true" + "obsolete skin/hair/eye pigmentation, variation in, 5" "" "true" + "obsolete lutheran null" "Autosomal recessive inheritance of the Lutheran null blood group phenotype is extremely rare, and has been reported in only 5 individuals. There is no obvious associated clinical or hematologic pathology, and all patients have been identified through identification of anti-Lu3 antibodies in their serum ({4:Karamatic Crew et al., 2007}).nnThe Lutheran inhibitor blood group phenotype (In(Lu); OMIM:111150) is characterized phenotypically by the apparent absence of the Lu antigen on red blood cells during serologic tests, i.e. Lu(a-b-). Since it is inherited as an autosomal dominant trait, it was initially postulated to result from an inhibitor of the Lu antigen. However, {7:Singleton et al. (2008)} found that the phenotype results from a mutation in the transcription factor KLF1 that regulates expression of the BCAM gene. These 2 forms of Lutheran absence on red blood cells can be differentiated both by the pedigree and by serologic studies.nnAn X-linked recessive form (OMIM:309050) has been rarely reported." "" "true" + "obsolete methane production" "" "true" + "obsolete skin/hair/eye pigmentation, variation in, 2" "Two types of melanin, the red pheomelanin and the black eumelanin, are present in human skin. {22:Valverde et al. (1995)} noted that eumelanin is photoprotective, whereas pheomelanin may contribute to UV-induced skin damage because of its potential to generate free radicals in response to ultraviolet radiation. Individuals with red hair have a predominance of pheomelanin in hair and skin and/or a reduced ability to produce eumelanin, which may explain why they fail to tan and are at risk from ultraviolet radiation. In mammals, the relative proportions of pheomelanin and eumelanin are regulated by melanocyte-stimulating hormone (see OMIM:176830), which acts via its receptor (MC1R) on melanocytes to increase the synthesis of eumelanin, and also via the product of the agouti locus (AGTI; OMIM:600201), which antagonizes this action." "" "true" + "obsolete ec1" "" "true" + "obsolete menoq1" "" "true" + "obsolete cyanide, inability to smell" "" "true" + "obsolete lutheran suppressor, x-linked" "An X-linked recessive inhibitor (XS) of the Lutheran blood group system (OMIM:111200) has been reported.nnFor a discussion of Lutheran blood group phenotypes, see OMIM:247420." "" "true" + "obsolete radial loop, plain, on right index finger" "" "true" + "obsolete tooth size" "" "true" + "obsolete xm system" "Berg and Bearn (1966, 1966) discovered an X-linked serum protein type by means of heteroantiserum made specific by absorption. Since the group-specific antigen appears to be located in the alpha-2-macroglobulin of serum, the name Xm was assigned to the system. The distribution of phenotypes in families and in populations was consistent with X-linkage." "" "true" + "obsolete gcy" "" "true" + "obsolete transsexuality" "" "true" + "obsolete novelty seeking personality trait" "Human personality traits that can be reliably measured by rating scales show a considerable heritable component. One such instrument is the tridimensional personality questionnaire (TPQ), which was designed by {6:Cloninger et al. (1993)} to measure 4 distinct domains of temperament--novelty seeking, harm avoidance, reward dependence, and persistence--that are hypothesized to be based on distinct neurochemical and genetic substrates.nnRisk-taking is a characteristic of behaviors that occur under conditions of uncertainty and involves a tradeoff between beneficial versus detrimental outcomes, perceived or real. Risk-taking may or may not involve conscious evaluation of the probability and magnitude of possible outcomes ({1:Anokhin et al., 2009}).nnSee also harm avoidance (OMIM:607834) and pathologic gambling (OMIM:606349), which may be related." "" "true" + "obsolete bilirubin, serum level of, quantitative trait locus 1" "" "true" + "obsolete bone mineral density quantitative trait locus 1" "" "true" + "obsolete body mass index quantitative trait locus 9" "" "true" + "obsolete hypertension, diastolic, resistance to" "" "true" + "obsolete hemoglobin, high altitude adaptation" "Individuals with high altitude adaptation hemoglobin can survive in extremely hypoxic conditions without an increase in hematocrit or the development of erythrocytosis or polycythemia vera (summary by {3:Lorenzo et al., 2014})." "" "true" + "obsolete carotid intimal medial thickness 1" "" "true" + "obsolete skin/hair/eye pigmentation, variation in, 11" "" "true" + "obsolete uric acid concentration, serum, quantitative trait locus 4" "" "true" + "obsolete short sleeper" "In a review of various classification schemes for sleep disorders, {2:Thorpy (1990)} listed 'short sleeper' under the broad category of 'disorders of initiating and maintaining sleep' (DIMS); however, the short sleeper phenotype or trait is not considered a sleep disorder. Individuals with this trait require less sleep in any 24-hour period than is typical for their age group.nnSee also familial advanced sleep-phase syndrome (FASPS; OMIM:604348), which is a distinct disorder characterized by very early sleep onset and offset." "" "true" + "obsolete bone mineral density quantitative trait locus 15" "" "true" + "obsolete glycerol quantitative trait locus" "" "true" + "obsolete c3hex, ability to smell" "Cis-3-hexen-1-ol (C3HEX) is present in a wide range of foods and beverages, including wine and spirits, olive oil, vegetables, fruit, and green tea. C3HEX is commonly associated with sensory characteristics such as 'green' and 'grassy.' The probability of an individual's ability to detect C3HEX at a particular intensity (the R-index) can be estimated, and the threshold for detection is normally distributed (summary by {1:Jaeger et al., 2010})." "" "true" + "obsolete blood group, vel system" "The Vel blood group system is defined by the presence of the Vel antigen on red blood cells. Vel is a high frequency antigen that shows variable strength, ranging from strong to weak. The rare Vel-negative blood type is inherited as an autosomal recessive trait and is typically unveiled when Vel-negative individuals develop anti-Vel antibodies after transfusion or pregnancy; Vel alloantibodies are never 'naturally occurring.' Individuals with anti-Vel antibodies may develop severe acute hemolytic transfusion reactions when transfused with Vel-positive blood. Individuals negative for the Vel antigen are rare and are required for the safe transfusion of patients with antibodies to Vel (summary by {3:Daniels, 2002}; {5:Storry et al., 2013}; {2:Cvejic et al., 2013}; {1:Ballif et al., 2013})." "" "true" + "obsolete body mass index quantitative trait locus 18" "" "true" + "obsolete blood group, gerbich system" "The Gerbich blood group system contains 6 high-prevalence and 5 low-prevalence antigens that are expressed on glycophorin C (GPC), glycophorin D (GPD), or both GPC and GPD. GPC and GPD, which contribute stability to the red blood cell membrane, are encoded by the same gene, GYPC, through the use of alternative translational start sites. Deficiency of GPC and GPD is associated with hereditary elliptocytosis, and Gerbich antigens act as receptors for the malarial parasite Plasmodium falciparum (see OMIM:611162). The Gerbich antibodies anti-Ge2 and anti-Ge3 have caused hemolytic transfusion reactions, and anti-Ge3 has produced hemolytic disease of the fetus and newborn (review by {12:Walker and Reid, 2010})." "" "true" + "myasthenic syndrome, congenital, 22" "" + "aortic aneurysm, familial thoracic 11, susceptibility to" "" + "congenital heart defects, dysmorphic facial features, and intellectual developmental disorder" "" + "congenital heart defects and ectodermal dysplasia" "" + "hyperphenylalaninemia due to DNAJC12 deficiency" "Mild non-BH4-deficient hyperphenylalaninemia (HPANBH4) is an autosomal recessive disorder characterized by increased serum phenylalanine usually detected by newborn screening and associated with highly variable neurologic defects, including movement abnormalities and intellectual disability. Laboratory analysis shows dopamine and serotonin deficiencies in the cerebrospinal fluid, and normal BH4 metabolism. Evidence suggests that treatment with neurotransmitter precursors can lead to clinical improvement or even prevent the neurologic defects if started in infancy (summary by {1:Anikster et al., 2017})." "" + "ectodermal dysplasia 13, hair/tooth type" "" + "neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination" "Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination is a syndromic form of severe to profound intellectual disability with onset of delayed psychomotor development and seizures in infancy. Affected children have hypotonia, feeding difficulties resulting in failure to thrive, and inability to speak or walk, and they tend to show repetitive stereotypic behaviors. Brain imaging shows cerebral atrophy and delayed myelination (summary by {1:Schoch et al., 2017})." "" + "bardet-biedl syndrome 21" "BBS21 is an autosomal recessive ciliopathy characterized by obesity, postaxial polydactyly, retinal degeneration, and mild cognitive impairment ({1:Heon et al., 2016}; {2:Khan et al., 2016}).nnFor a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (OMIM:209900)." "" + "Diamond-Blackfan anemia 16" "" + "Diamond-Blackfan anemia 17" "" + "brachycephaly, trichomegaly, and developmental delay" "BTDD is an autosomal dominant disorder characterized by brachycephaly, trichomegaly, and developmental delay. Although it is caused by dysfunction of the ribosome, patients do not have anemia (summary by {2:Paolini et al., 2017})." "" + "immunoskeletal dysplasia with neurodevelopmental abnormalities" "" + "intellectual disability, autosomal recessive 60" "" + "retinitis pigmentosa 78" "" + "craniosynostosis 7" "Craniosynostosis is a primary abnormality of skull growth involving premature fusion of the cranial sutures such that the growth velocity of the skull often cannot match that of the developing brain. This produces skull deformity and, in some cases, raises intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability (summary by {1:Fitzpatrick, 2013}).nnFor a discussion of genetic heterogeneity of craniosynostosis, see CRS1 (OMIM:123100)." "" + "thrombocytopenia, anemia, and myelofibrosis" "" + "premature ovarian failure 13" "" + "intellectual developmental disorder with gastrointestinal difficulties and high pain threshold" "IDDGIP is an autosomal dominant syndromic neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability with speech delay, and behavioral abnormalities. Most patients have variable additional features, including feeding and gastrointestinal difficulties, high pain threshold and/or hypersensitivity to sound, and dysmorphic features, including mild facial abnormalities, strabismus, and small hands and feet (summary by {1:Jansen et al., 2017})." "" + "intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies" "IDDFSDA is an autosomal recessive severe multisystem disorder characterized by poor overall growth, developmental delay, early-onset seizures, intellectual disability, and dysmorphic features. There is phenotypic variability. The most severely affected patients have a neurodevelopmental disorder with microcephaly, absent speech, and inability to walk, and they require feeding tubes. Some patients have congenital heart defects or nonspecific abnormalities on brain imaging. Less severely affected individuals have mild to moderate intellectual disability with normal speech and motor development (summary by {1:Santiago-Sim et al., 2017})." "" + "retinitis pigmentosa 79" "" + "structural heart defects and renal anomalies syndrome" "" + "intellectual developmental disorder with neuropsychiatric features" "Intellectual developmental disorder with neuropsychiatric features is an autosomal recessive disorder characterized by moderate intellectual disability, relatively mild seizures, and neuropsychiatric abnormalities, such as anxiety, obsessive-compulsive behavior, and autistic features. Mild facial dysmorphic features may also be present (summary by {2:Srour et al., 2017})." "" + "Rahman syndrome" "Rahman syndrome is characterized by mild to severe intellectual disability associated with variable somatic overgrowth manifest as increased birth length, height, weight, and/or head circumference. The overgrowth is apparent in infancy and may lessen with time or persist. The phenotype is highly variable; some individuals may have other minor anomalies, including dysmorphic facial features, strabismus, or camptodactyly. The disorder is thought to result from a defect in epigenetic regulation (summary by {1:Tatton-Brown et al., 2017})." "" + "Al Kaissi syndrome" "Al Kaissi syndrome is an autosomal recessive developmental disorder characterized by growth retardation, spine malformation, particularly of the cervical spine, dysmorphic facial features, and delayed psychomotor development with moderate to severe intellectual disability (summary by {1:Windpassinger et al., 2017})." "" + "Fanconi anemia, complementation group W" "" + "developmental delay and seizures with or without movement abnormalities" "DEDSM is a neurodevelopmental disorder characterized by global developmental delay, variable intellectual disability, and early-onset seizures with a myoclonic component. Most patients have delayed motor development and show abnormal movements, including ataxia, dystonia, and tremor (summary by {1:Hamdan et al., 2017})." "" + "polycystic liver disease 4 with or without kidney cysts" "An autosomal dominant disease characterized by adult-onset of liver cysts arising from the bile duct epithelium, caused by heterozygous mutation in the LRP5 gene. Some patients may develop a few kidney cysts, but these are often incidental and do not result in renal failure." "" + "short-rib thoracic dysplasia 20 with polydactyly" "Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by {1:Huber and Cormier-Daire, 2012} and {2:Schmidts et al., 2013}).nnThere is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, OMIM:218330)." "" + "osteogenesis imperfecta, type 18" "Osteogenesis imperfecta type XVIII (OI18) is characterized by congenital bowing of the long bones, wormian bones, blue sclerae, vertebral collapse, and multiple fractures in the first years of life ({1:Doyard et al., 2018})." "" + "hyperekplexia 4" "Hyperekplexia-4 is an autosomal recessive severe neurologic disorder apparent at birth. Affected infants have extreme hypertonia and appear stiff and rigid. They have little if any development, poor or absent visual contact, and no spontaneous movement, consistent with an encephalopathy. Some patients have early-onset refractory seizures, and many have inguinal or umbilical hernia. Most patients die in the first months of life due to respiratory failure or other complications (summary by {2:Piard et al., 2018}).nnFor a general description and a discussion of genetic heterogeneity of hyperekplexia, see HKPX1 (OMIM:149400)." "" + "genetic transient congenital hypothyroidism" "An instance of transient congenital hypothyroidism that is caused by an inherited modification of the individual's genome." "" + "childhood-onset benign chorea with striatal involvement" "" + "alcohol-induced Wernicke-Korsakoff's syndrome" "A syndrome which occurs in individuals with a history of alcohol abuse. It is caused by prolonged alcohol-induced neurological damage and malnutrition including vitamin and electrolyte deficiencies. Clinical signs include altered mental status, visual impairment and decreased muscle coordination. The clinical course varies and is, in part, dependent upon the severity of symptoms at presentation. The prognosis is poor and worsens if alcohol abuse continues." "" + "autoimmune primary ovarian failure" "An autoimmune form of primary ovarian failure." "" + "lumbar disc degenerative disorder" "Any degenerative disorder affecting one or more vertebral discs of the lumbar spine." "" + "thoracic disc degenerative disorder" "Any degenerative disorder affecting one or more vertebral discs of the thoracic spine." "" + "cervical disc degenerative disorder" "Any degenerative disorder affecting one or more vertebral discs of the cervical spine." "" + "Schistosoma japonicum infectious disease" "An infection that is caused by Schistosoma japonicum." "" + "hyperparathyroidism, primary, caused by water clear cell hyperplasia" "" + "Schistosoma intercalatum infectious disease" "An disease or disorder caused by infection with Schistosoma intercalatum." "" + "Rosai-Dorfman disease" "Rosai-Dorfman disease is a rare benign non-Langerhans cell histiocytosis characterized by the development of large painless histiocytic masses in the lymph nodes, predominantly of the cervical region. Extranodal involvement can also be observed, such as in the skin, respiratory tract, bones, genitourinary system, soft tissues, oral cavity, and central nervous system. Additional findings may include fever, malaise, epistaxis, night sweats, weight loss, leukocytosis, elevated erythrocyte sedimentation rate and hypergammaglobulinemia." "" + "isolated sternocostoclavicular hyperostosis" "Isolated sternocostoclavicular hyperostosis is a rare rheumatologic disease characterized by predominantly bilateral, chronic, sterile inflammation and progressive sclerosis and hyperostosis of the sternocostoclavicular joint, with adjacent soft tissue ossification, in the absence of other joint involvement. It presents as recurrent episodes of pain, edema and/or erythema of the sternoclavicular region. Palmoplantar pustulosis may be additionally observed in some cases." "" + "arthrogryposis-ectodermal dysplasia-other anomalies syndrome" "" + "X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome" "" + "CLCN4-related X-linked intellectual disability syndrome" "" + "propylthiouracil embryofetopathy" "Propylthiouracil embryofetopathy is a rare teratologic disease characterized by variable congenital anomalies resulting from maternal treatment and prenatal exposure to propylthiouracil. Anomalies frequently encountered include ear malformations (e.g. accessory auricle, preauricular sinus/fistula/cyst), urinary system malformations (e.g. isolated unilateral kidney, congenital hydronephrosis), gastrointestinal anomalies (e.g. congenital bands with intestinal malrotation) and cardiac defects (e.g. situs inversus dextrocardia, cardiac outflow tract defects)." "" + "16p12.1p12.3 triplication syndrome" "16p12.1p12.3 triplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial duplication of the short arm of chromosome 16 characterized by global developmental delay, pre- or post-natal growth delay and distinctive craniofacial features, including short palpebral fissures, epicanthal folds, bulbous nose, thin upper vermillion border, apparently low-set ears and large ear lobes. Variable clinical features that have been reported include congenital heart disease, genitourinary abnormalities, visual anomalies or, less commonly, infantile hepatic disease. Patients are also reported to have tapered fingers." "" + "EMILIN-1-related connective tissue disease" "" + "pediatric collagenous gastritis" "" + "autosomal dominant charcot-marie-tooth disease type 2 due to DGAT2 mutation" "" + "female infertility due to oocyte meiotic arrest" "" + "acute macular neuroretinopathy" "" + "six2-related frontonasal dysplasia" "" + "congenital amyoplasia" "" + "obsolete rere-related neurodevelopmental syndrome" "" "true" + "early-onset familial noncirrhotic portal hypertension" "" + "extracranial carotid artery aneurysm" "" + "idiopathic pleuroparenchymal fibroelastosis" "" + "retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome" "" + "diaph1-related sensorineural hearing loss-thrombocytopenia syndrome" "" + "obsolete rare hyperkinetic movement disorder" "True" "true" + "infantile-onset generalized dyskinesia with orofacial involvement" "" + "hypopharynx squamous cell carcinoma" "A squamous cell carcinoma that involves the hypopharynx." "" + "charcot-marie-tooth disease type 2T" "" + "9q33.3q34.11 microdeletion syndrome" "" + "c11orf73-related autosomal recessive hypomyelinating leukodystrophy" "" + "congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome" "" + "congenital agenesis of the scrotum" "" + "familial monosomy 7 syndrome" "" + "early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome" "" + "kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome" "" + "kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome" "" + "omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome" "" + "early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome" "" + "optic atrophy-peripheral neuropathy-developmental delay syndrome" "" + "epidermolytic nevus" "" + "MME-related autosomal dominant Charcot Marie Tooth disease type 2" "" + "menstrual cycle-dependent periodic fever" "" + "aquagenic palmoplantar keratoderma" "Aquagenic syringeal acrokeratoderma is a rare condition affecting the palms of the hands. It is characterized by the appearance or worsening of a palmar eruption, following brief exposure to water. The palmar eruption is made up of small, white or shining pimples that can conjoin into plaques. The feet are unaffected. Symptoms include a burning pain and a tightening sensation in the palms, as well as too much sweating. There are two variants. Most commonly, it is a temporary and recurrent condition that appears after submersion in water, known as the bhand in the bucket sign,b that gets better within minutes to hours of drying. A less common variant is characterized by persistent lesions that are worsened after water submersion. The cause of aquagenic syringeal acrokeratoderma is unknown, but likely relates to sweating. Several studies have found that it is present in about 40% to 84% of cystic fibrosis patients and also in carriers, which suggest that it may be caused by mutations in the CFTR gene. It is more often found in young women. Besides cystic fibrosis, it is also seen in wasting (marasmus) and nephrotic syndrome and also with the use of aspirin and other drugs such as rofecoxib and celecoxib. In most cases it does not need any treatment and resolves spontaneously. When necessary, it can be treated with topical aluminum chloride or salicylic acid ointment or with tap water iontophoresis." "" + "LRP5-related primary osteoporosis" "" + "obsolete short rib-polydactyly syndrome type 5" "" "true" + "MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome" "" + "limbic encephalitis with neurexin-3 antibodies" "" + "tuberculous meningitis" "" + "chronic relapsing inflammatory optic neuropathy" "" + "isolated optic neuritis" "" + "recurrent idiopathic neuroretinitis" "" + "optic perineuritis" "" + "early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome" "" + "SIN3A-related intellectual disability syndrome due to a point mutation" "" + "childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder" "" + "X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome" "" + "cochleovestibular dysplasia" "" + "mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome" "" + "metopic ridging-ptosis-facial dysmorphism syndrome" "" + "obsolete STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome" "" "true" + "4q25 proximal deletion syndrome" "" + "alkaline ceramidase 3 deficiency" "" + "erythema multiforme major" "A severe, sometimes life-threatening, form of erythema multiforme. It is considered to be a hypersensitivity skin reaction triggered by a variety of stimuli, including infections and medication. It is characterized by raised, edematous papules in the extremities; involvement of one or more mucous membranes; and epidermal detachment involving less than ten percent of the total body surface area." "" + "cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome" "" + "severe combined immunodeficiency due to LAT deficiency" "" + "3-methylglutaconic aciduria type 8" "" + "3-methylglutaconic aciduria type 9" "" + "combined immunodeficiency due to GINS1 deficiency" "" + "psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome" "" + "pancreatic carcinoma with mixed differentiation" "A rare carcinoma with a poor prognosis, characterized by the presence of a mixture of exocrine and neuroendocrine malignant epithelial cells in both the pancreas and metastatic sites. Symptoms include jaundice, abdominal pain, and weight loss." "" + "autosomal recessive complex spastic paraplegia due to kennedy pathway dysfunction" "" + "Gabriele de Vries syndrome" "" + "Stevens-Johnson syndrome/toxic epidermal necrolysis overlap syndrome" "" + "autosomal recessive epidermolytic ichthyosis" "" + "human anaplasmosis" "An infection that is caused by Anaplasma phagocytophilum, which is transmitted to humans by infected ticks; it is characterized by fever, headache, chills, and myalgia." "" + "anaplasmosis in cattle" "A disease of cattle caused by parasitization of the red blood cells by bacteria of the genus ANAPLASMA." "" + "lumbar spinal stenosis" "A spinal stenosis that involves the lumbar region of vertebral column." "" + "diarrheal disease secondary to increased bowel motility" "A diarrhea that results from increased motility in the bowel; significant increases in bowel motility can deliver excessively large volumes of stool to the colon. Diarrhea can result when the maximum colonic absorptive capacity of 4 liters a day is exceeded. Also, an alteration in colonic motility such that bowel contents are emptied before adequate absorption can occur has been offered as a possible explanation for the diarrhea associated with irritable bowel disease." "" + "diarrheal disease secondary to decreased bowel motility" "A diarrhea that results from decreased motility in the bowel; the resultant bowel stasis encourages bacterial overgrowth and subsequent bile salt deconjugation. Diarrhea is then the direct result of fat malabsorption and increased colonic secretion." "" + "obsolete Marfan Syndrome 3" "" "true" + "childhood adrenal gland pheochromocytoma" "A rare pheochromocytoma of the adrenal gland that occurs during childhood." "" + "vagus nerve paraganglioma" "A benign or malignant extra-adrenal parasympathetic paraganglioma arising from paraganglia in the vagus nerve. Patients may present with a slow growing, painless mass in the neck, hoarseness, vocal cord paralysis, and dysphagia." "" + "premature ovarian failure 10" "Premature ovarian failure-10 (POF10) represents a syndrome characterized by primary amenorrhea, hypergonadotropic ovarian insufficiency, and genomic instability in somatic cells.nnFor a general phenotypic description and discussion of genetic heterogeneity of premature ovarian failure, see POF1 (OMIM:311360).nnFor a discussion of genetic heterogeneity of age at natural menopause, see MENOQ1 (OMIM:300488)." "" + "premature ovarian failure 14" "" + "nephrotic syndrome of childhood - steroid sensitive" "Nephrotic syndrome, occurring in the pediatric population, characterized by the normalization of proteinuria with the administration of corticosteroids." "" + "solid papillary breast carcinoma" "A well circumscribed, low grade neoplasm that arises from the breast. It is characterized by the presence of sheets of malignant epithelial cells that are supported by fibrovascular structures. When there is an invasive component present, it is usually a mucinous carcinoma." "" + "myxoma" "A benign soft tissue neoplasm characterized by the presence of spindle and stellate cells, lobulated growth pattern, and myxoid stroma formation." "" + "desmoplastic melanoma" "A melanoma of the skin characterized by a proliferation of atypical spindled melanocytes in the dermis, in a background of abundant collagen. It usually presents as an amelanotic raised nodular lesion." "" + "solid pseudopapillary neoplasm of the pancreas" "A low-grade malignant neoplasm that arises from the exocrine pancreas. It is characterized by the presence of uniform cells that form solid and pseudopapillary patterns, cystic changes, and hemorrhage. Perineural invasion, vascular invasion, and invasion into surrounding tissues may be present. It usually presents as an encapsulated, solitary, and lobulated pancreatic mass. It is usually found incidentally during physical examination or it may present with abdominal discomfort and pain. It occurs predominantly in young women. Complete removal of the tumor is curative in the majority of cases." "" + "perihilar intrahepatic cholangiocarcinoma" "An intrahepatic cholangiocarcinoma that arises from the intrahepatic large bile ducts." "" + "obsolete congenital melanocytic nevus" "" "true" + "combined hepatocellular carcinoma and cholangiocarcinoma" "A rare tumor containing unequivocal elements of both hepatocellular and cholangiocarcinoma that are intimately admixed. This tumor should be distinguished from separate hepatocellular carcinoma and cholangiocarcinoma arising in the same liver. The prognosis of this tumor is poor." "" + "large congenital melanocytic nevus" "A large, or giant, congenital melanocytic nevus (LCMN or GCMN) is a pigmented skin lesion of more than 20 cm - or 40 cm- respectively, projected adult diameter, composed of melanocytes, and presenting with an elevated risk of malignant transformation." "" + "spitz nevus" "A benign, acquired or congenital, usually single skin lesion. It can occur on any area of the body, but most commonly occurs on the face of children and the thighs of young females. It is characterized by a proliferation of large spindle, oval, or large epithelioid melanocytes in the dermal-epidermal junction. The melanocytic proliferation subsequently extends into the dermis." "" + "benign melanocytic skin nevus" "A benign, circumscribed proliferation of melanocytes in the skin. Variants include the Spitz nevus, halo nevus, blue nevus, and balloon cell nevus." "" + "epithelioid cell nevus" "A nevus characterized by the presence of large epithelioid melanocytes." "" + "spindle cell nevus" "A nevus characterized by the presence of spindle-shaped melanocytes." "" + "desmoplastic nevus" "A benign melanocytic nevus characterized by the presence of desmoplastic stroma." "" + "desmoplastic spitz nevus" "A Spitz nevus associated with fibrous stroma formation." "" + "obsolete early onset primary dystonia" "" "true" + "idiopathic torsion dystonia" "Torsion dystonia for which no underlying cause has been identified." "" + "familial idiopathic torsion dystonia" "An instance of idiopathic torsion dystonia that is caused by an inherited modification of the individual's genome." "" + "acquired idiopathic torsion dystonia" "An instance of idiopathic torsion dystonia that is acquired during the lifetime of the individual." "" + "torsion dystonia" "" + "acquired torsion dystonia" "An instance of torsion dystonia that is acquired during the lifetime of the individual." "" + "dystonia, focal, task-specific" "" + "childhood myelodysplastic syndrome" "An uncommon hematologic malignancy occurring during childhood. Many of the morphologic, immunophenotypic, and genetic changes seen in adult myelodysplastic syndromes are also observed in the childhood variants of the disease. Children present with neutropenia and thrombocytopenia more often than adults, and bone marrow hypocellularity is more often seen in children than adults." "" + "refractory cytopenia of childhood" "The most common subtype of the myelodysplastic syndromes affecting children. It is characterized by persistent cytopenia with less than 5% blasts in the bone marrow and less than 2% blasts in the peripheral blood." "" + "coronary microvascular disorder" "A disorder affecting the smallest coronary arteries. Causes include atherosclerosis and arterial spasm. Chest pain is a frequently observed symptom." "" + "drug hypersensitivity syndrome" "A potentially life-threatening hypersensitivity reaction to a pharmacologic substance that is characterized by rash, lymphadenopathy, fever, hematologic abnormalities and involvement of one or more internal organs." "" + "paraneoplastic cerebellar degeneration" "A rare, immune-mediated disorder characterized by cerebellar degeneration due to the presence of an often undetected malignancy (usually carcinoma or lymphoma) in an anatomic site other than the cerebellum. Signs and symptoms include progressive ataxia, dysarthria, and nystagmus." "" + "pancreatic mucinous-cystic neoplasm" "A non-invasive or invasive cystic epithelial neoplasm that affects almost exclusively females. It is characterized by the presence of columnar mucin-producing epithelial cells and ovarian-type stroma formation." "" + "cystic tumor of the pancreas" "" + "tonsillar lymphoma" "A primary lymphoma that affects the tonsil and the bulk of the tumor is in this anatomic area. The majority of cases are B-cell non-Hodgkin lymphomas." "" + "tonsillar lipoma" "A benign adipose tissue neoplasm of the tonsils." "" + "high grade B-cell lymphoma" "A term that refers to high grade B-cell lymphoma, not otherwise specified or high grade B-cell lymphoma with MYC and BCL2 and/or BCL6 rearrangements." "" + "myelofibrosis" "A partial or complete replacement of the bone marrow stroma by fibrous tissue. It can be a primary bone marrow lesion as part of the chronic myeloproliferative disorders (chronic idiopathic myelofibrosis), a manifestation of acute myeloid leukemia (acute panmyelosis with myelofibrosis), or a secondary phenomenon due to bone marrow involvement by a metastatic tumor (e.g., metastatic breast carcinoma). --2003" "" + "metastatic squamous cell carcinoma" "A squamous cell carcinoma which has spread from its original site of growth to another anatomic site." "" + "metastatic malignant neoplasm in the spinal cord" "A malignant neoplasm that has spread to the spinal cord from another anatomic site or system. Representative examples include carcinoma, lymphoma, and melanoma." "" + "metastatic malignant neoplasm in the eye" "A malignant neoplasm that has spread to the eye from another anatomic site." "" + "salivary duct carcinoma" "An aggressive, high grade adenocarcinoma that arises from the salivary glands. It usually affects elderly males and presents as a rapidly enlarging mass. It metastasizes to regional lymph nodes and distant anatomic sites." "" + "extrarenal rhabdoid tumor" "A rhabdoid tumor which arises in the soft tissues. It occurs in infants and children and may be associated with loss of chromosome 22. It is characterized by the presence of cells with a large eccentric nucleus, prominent nucleolus, and abundant cytoplasm." "" + "T-lymphoblastic lymphoma" "The most frequent type of lymphoblastic lymphoma. It comprises approximately 85-90% of cases. It is more frequently seen in adolescent males. It frequently presents with a mass lesion in the mediastinum. Pleural effusions are common. (WHO, 2001)" "" + "atypical lymphoproliferative disorder" "" + "premalignant hematological system disease" "A hematologic disorder which does not display the morphologic and/or clinical characteristics of an overt malignancy. Representative examples include atypical lymphoproliferative disorders and myelodysplastic syndromes." "" + "acute myeloid leukemia with mutated NPM1" "An acute myeloid leukemia with mutation of the nucleophosmin gene. It is usually associated with normal karyotype and frequently has myelomonocytic or monocytic features. It usually responds to induction therapy." "" + "obsolete acute myeloid leukemia with mutated CEBPA" "" "true" + "paranasal sinus mucoepidermoid carcinoma" "A rare carcinoma that arises from the paranasal sinus. It is characterized by the presence of epidermoid cells, mucus producing cells, and cells of intermediate type." "" + "obsolete disease of membrane bound organelle" "" "true" + "obsolete disease of macromolecular complex" "" "true" + "obsolete disease of supramolecular complex" "" "true" + "obsolete disease of transporter activity" "" "true" + "obsolete disease of catalytic activity" "" "true" + "obsolete disease of receptor activity" "" "true" + "disease of cell nucleus" "True" + "obsolete disease by cell type" "" "true" + "obsolete disease of signal transduction" "" "true" + "pseudoallergy" "" + "drug pseudoallergy" "" + "midbrain disorder" "A disease or disorder that involves the midbrain." "" + "carpal region disorder" "A disease or disorder that involves the carpal region." "" + "cholesterol metabolism disease" "A disease that has its basis in the disruption of cholesterol metabolic process." "" + "obsolete sucrose intolerance disease" "" "true" + "acquired adrenogenital syndrome" "An instance of adrenogenital syndrome that is acquired during the lifetime of the individual." "" + "" "true" + "obsolete radiation or chemically induced disorder" "A disease or disorder that is induced by either chemical or radiation exposure." "" "true" + "obsolete Deuteromycetes infectious disease" "" "true" + "obsolete infectious diarrheal disease" "" "true" + "infectious disease characteristic" "" + "hyalohyphomycosis" "An opportunistic infection caused by a heterogeneous group of mitosporic fungi with clear (hyalo-) hyphae in the host. Common causative agents include acremonium; aspergillus; chrysosporium; fusarium; paecilomyces; penicillium; pseudallescheria; scedosporium; and scopulariopsis. Normally a dermatomycoses, it can become invasive in the immunocompromised host." "" + "cutaneous basidiobolomycosis" "" + "systemic basidiobolomycosis" "" + "osteogenic neoplasm" "A benign, intermediate, or malignant bone-forming neoplasm. Representative examples include osteoma, osteoblastoma, and osteosarcoma." "" + "cribriform carcinoma of breast" "" + "intraductal cribriform breast adenocarcinoma" "A ductal carcinoma in situ of the breast characterized by the presence of a cribriform architectural pattern." "" + "minor salivary gland adenoid cystic carcinoma" "An aggressive carcinoma that arises from the minor salivary glands. It is characterized by the presence of malignant epithelial and myoepithelial cells forming cribriform, tubular, and solid patterns. It usually presents as a slow growing mass." "" + "myopia 26, X-linked, female-limited" "" + "intellectual disability, X-linked 107" "" + "osteogenesis imperfecta, type 19" "" + "peroxisome biogenesis disorder 10B" "" + "avascular necrosis of femoral head, primary, 1" "" + "avascular necrosis of femoral head, primary, 2" "" + "congenital disorder of glycosylation, type IIq" "" + "anauxetic dysplasia 1" "" + "anauxetic dysplasia 2" "" + "short-rib thoracic dysplasia 17 with or without polydactyly" "" + "Lopes-Maciel-Rodan syndrome" "" + "bleeding disorder, platelet-type, 21" "" + "Townes-Brocks syndrome 1" "" + "Townes-Brocks syndrome 2" "" + "Noonan syndrome-like disorder with loose anagen hair 2" "" + "Stankiewicz-Isidor syndrome" "A neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, behavioral disorders, mild craniofacial anomalies, and variable congenital defects of the cardiac and/or urogenital systems." "" + "microcephaly 18, primary, autosomal dominant" "" + "pituitary adenoma 5, multiple types" "" + "gaze palsy, familial horizontal, with progressive scoliosis, 2" "" + "spermatogenic failure 18" "" + "Skraban-Deardorff syndrome" "" + "Noonan syndrome-like disorder with loose anagen hair 1" "" + "combined oxidative phosphorylation deficiency 32" "" + "pituitary adenoma 3, multiple types" "" + "ovarian dysgenesis 5" "" + "pontocerebellar hypoplasia, type 11" "" + "combined oxidative phosphorylation deficiency 33" "" + "epiphyseal dysplasia, multiple, 7" "" + "immunodeficiency, common variable, 14" "" + "myopathy, centronuclear, 6, with fiber-type disproportion" "" + "immunodeficiency 53" "" + "immunodeficiency 11b with atopic dermatitis" "" + "proteasome-associated autoinflammatory syndrome 1" "" + "proteasome-associated autoinflammatory syndrome 3" "" + "proteasome-associated autoinflammatory syndrome 2" "" + "Kleefstra syndrome 2" "" + "retinitis pigmentosa 80" "" + "microcephaly 19, primary, autosomal recessive" "" + "geleophysic dysplasia 3" "" + "spermatogenic failure 19" "" + "spermatogenic failure 20" "" + "spermatogenic failure 21" "" + "spermatogenic failure 22" "" + "spermatogenic failure 23" "" + "spermatogenic failure 24" "" + "spermatogenic failure 25" "" + "spermatogenic failure 26" "" + "spermatogenic failure 27" "" + "spermatogenic failure 28" "" + "spermatogenic failure 29" "" + "mosaic variegated aneuploidy syndrome 3" "" + "Fraser syndrome 1" "" + "Fraser syndrome 2" "" + "Fraser syndrome 3" "" + "blepharocheilodontic syndrome 1" "Any blepharo-cheilo-odontic syndrome in which the cause of the disease is a mutation in the CDH1 gene." "" + "combined oxidative phosphorylation deficiency 34" "" + "combined oxidative phosphorylation deficiency 35" "" + "polycystic liver disease 3 with or without kidney cysts" "Any polycystic kidney disease in which the cause of the disease is a mutation in the ALG8 gene, that presents with or without kidney cysts." "" + "Fanconi anemia, complementation group S" "" + "obsolete body mass index quantitative trait locus 19" "" "true" + "amyotrophic lateral sclerosis, susceptibility to, 24" "" + "multiple synostoses syndrome 4" "" + "encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8" "" + "microcephaly 20, primary, autosomal recessive" "" + "neurodegeneration with brain iron accumulation 7" "" + "neurodegeneration with brain iron accumulation 8" "" + "amyloidosis, primary localized cutaneous, 3" "" + "orofaciodigital syndrome 18" "" + "keratoconus 9" "" + "epilepsy, familial focal, with variable foci 4" "" + "elliptocytosis 3" "" + "combined oxidative phosphorylation deficiency 36" "" + "leukodystrophy, hypomyelinating, 15" "" + "multiple mitochondrial dysfunctions syndrome 6" "" + "leukodystrophy, hypomyelinating, 16" "" + "hydrocephalus, congenital, 3, with brain anomalies" "" + "erythrocytosis, familial, 6" "" + "erythrocytosis, familial, 7" "" + "microcephaly 21, primary, autosomal recessive" "" + "microcephaly 22, primary, autosomal recessive" "" + "microcephaly 23, primary, autosomal recessive" "" + "Ehlers-Danlos syndrome, classic-like, 2" "" + "leukodystrophy, hypomyelinating, 17" "" + "Coffin-Siris syndrome 7" "Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the DPF2 gene." "" + "corneal dystrophy, posterior polymorphous, 4" "" + "charcot-marie-tooth disease, axonal, type 2DD" "" + "parkinsonism-dystonia, infantile, 1" "" + "parkinsonism-dystonia, infantile, 2" "" + "intellectual disability, autosomal dominant 57" "" + "cardiomyopathy, familial hypertrophic 27" "" + "polycystic kidney disease 6 with or without polycystic liver disease" "Any polycystic kidney disease in which the cause of the disease is a mutation in the DNAJB11 gene." "" + "ciliary dyskinesia, primary, 38" "" + "pontocerebellar hypoplasia, type 1D" "" + "developmental and epileptic encephalopathy, 66" "" + "epilepsy, familial adult myoclonic, 6" "" + "epilepsy, familial adult myoclonic, 7" "" + "inflammatory bowel disease 29" "" + "ovarian dysgenesis 6" "" + "peeling skin syndrome 6" "" + "hearing loss, autosomal recessive 110" "" + "intellectual disability, autosomal recessive 63" "" + "premature ovarian failure 15" "" + "disorder of defective peroxisomal and mitochondrial fission" "A disease that has its basis in the disruption of peroxisome and mitochondrial fission." "" + "sudden arrhythmia death syndrome" "" + "paraomphalocele" "" + "nondystrophic myotonia" "" + "X-linked spermatogenic failure 1" "" + "obstructive nephropathy" "Renal damage and impaired renal function secondary to urinary tract obstruction." "" + "neurodevelopmental disorder with midbrain and hindbrain malformations" "" + "benign peripheral nerve granular cell tumor" "A benign granular cell tumor that involves the nerve." "" + "hormone-resistant breast carcinoma" "Breast carcinoma that does not respond to hormone therapy." "" + "hormone-resistant prostate carcinoma" "Prostate carcinoma that does not respond to hormone therapy." "" + "rectal adenosquamous carcinoma" "An unusual rectal carcinoma characterized by the presence of glandular and squamous carcinomatous components. The two carcinomatous components may be admixed within the tumor, or the two may appear separately in different areas." "" + "skin adenosquamous carcinoma" "An uncommon carcinoma that arises from the skin. It is characterized by the presence of malignant glandular and malignant squamous cellular components." "" + "nasal cavity and paranasal sinus neoplasm" "A benign or malignant neoplasm that affects the nasal cavity or paranasal sinuses. Representative examples of benign neoplasms include Schneiderian papilloma and salivary gland-type adenoma. Representative examples of malignant neoplasms include carcinoma and lymphoma." "" + "bronchiolitis obliterans organizing pneumonia" "Bronchiolitis obliterans organizing pneumonia (BOOP) is a lung disease that causes inflammation in the small air tubes (bronchioles) and air sacs (alveoli). BOOP typically develops in individuals between 40-60 years old; however the disorder may affect individuals of any age. The signs and symptoms of BOOP vary but often include shortness of breath, a dry cough, and fever. BOOP can be caused by viral infections, various drugs, and other medical conditions. If the cause is known, the condition is called secondary BOOP. In many cases, the underlying cause of BOOP is unknown. These cases are called idiopathic BOOP or cryptogenic organizing pneumonia. Treatment often includes corticosteroid medications." "" + "amyotonia congenita" "" + "X-linked congenital hemolytic anemia" "" + "cerebral sclerosis, diffuse, scholz type" "" + "autoinflammation with arthritis and dyskeratosis" "" + "arthrogryposis multiplex congenita 1, neurogenic, with myelin defect" "" + "46,XX sex reversal 4" "" + "neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies" "" + "neurodevelopmental disorder with involuntary movements" "" + "neurodevelopmental disorder with hypotonia, neuropathy, and deafness" "" + "neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies" "" + "retinal dystrophy with or without macular staphyloma" "" + "Cohen-Gibson syndrome" "" + "maleylacetoacetate isomerase deficiency" "" + "congenital heart defects and skeletal malformations syndrome" "" + "microcephaly, short stature, and limb abnormalities" "" + "congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay" "" + "polydactyly, postaxial, type a7" "" + "cerebellar atrophy, developmental delay, and seizures" "" + "vertebral, cardiac, renal, and limb defects syndrome 1" "" + "vertebral, cardiac, renal, and limb defects syndrome 2" "" + "joint laxity, short stature, and myopia" "" + "encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities" "" + "HELIX syndrome" "" + "Pilarowski-Bjornsson syndrome" "" + "neurodevelopmental disorder with microcephaly, ataxia, and seizures" "" + "neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures" "" + "auditory neuropathy-optic atrophy syndrome" "" + "platelet abnormalities with eosinophilia and immune-mediated inflammatory disease" "" + "neuronopathy, distal hereditary motor, type 9" "" + "facial palsy, congenital, with ptosis and velopharyngeal dysfunction" "" + "immunodeficiency, developmental delay, and hypohomocysteinemia" "" + "Sweeney-Cox syndrome" "" + "actn3 deficiency" "True" + "neurodevelopmental disorder with dysmorphic facies and distal limb anomalies" "" + "combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia" "" + "neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy" "" + "neurodevelopmental disorder with severe motor impairment and absent language" "" + "neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter" "" + "glycosylphosphatidylinositol biosynthesis defect 15" "" + "neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive" "" + "Alkuraya-Kucinskas syndrome" "" + "neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy" "" + "neurodevelopmental disorder with or without seizures and gait abnormalities" "" + "neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features" "" + "obsolete short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies" "" "true" + "Leber congenital amaurosis with early-onset deafness" "" + "neurodevelopmental disorder with poor language and loss of hand skills" "" + "Diamond-Blackfan anemia-like" "" + "congenital heart defects, multiple types, 5" "" + "neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities" "" + "hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome" "" + "amyotrophic lateral sclerosis, susceptibility to, 25" "" + "epilepsy, juvenile myoclonic, susceptibility to, 10" "" + "chromosome 1p35 deletion syndrome" "" + "hyperthyroxinemia, euthyroid, caused by generalized 5-prime-deiodinase deficiency" "" + "phenytoin toxicity" "" + "spondyloepimetaphyseal dysplasia, di rocco type" "" + "neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures" "" + "Ververi-Brady syndrome" "" + "Jaberi-Elahi syndrome" "" + "developmental delay, intellectual disability, obesity, and dysmorphic features" "" + "deafness, congenital heart defects, and posterior embryotoxon" "" + "tumoral calcinosis, hyperphosphatemic, familial, 2" "" + "tumoral calcinosis, hyperphosphatemic, familial, 3" "" + "obsolete neurodevelopmental disorder with brain, liver, and lung abnormalities" "" "true" + "glycosylphosphatidylinositol biosynthesis defect 17" "" + "protoporphyria, erythropoietic, 2" "" + "tetraamelia syndrome 2" "" + "humerofemoral hypoplasia with radiotibial ray deficiency" "" + "intellectual developmental disorder with or without epilepsy or cerebellar ataxia" "" + "neurodevelopmental disorder with spasticity and poor growth" "" + "spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits" "" + "neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures" "" + "intellectual developmental disorder with dysmorphic facies and behavioral abnormalities" "" + "neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum" "" + "intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities" "Any BAFopathy in which the cause of the disease is a mutation in the BCL11B gene." "" + "tetraamelia syndrome 1" "" + "gingival fibroepithelial polyp" "A non-neoplastic nodular lesion that arises from the gingiva. It is composed of epithelial cells lining connective tissue stroma." "" + "vaginal fibroepithelial polyp" "A superficial polypoid lesion that arises from the vagina. It is characterized by the presence of a fibroblastic stroma which is often myxoid, covered by squamous epithelial cells." "" + "cervical fibroepithelial polyp" "A usually solitary polypoid lesion that arises from the cervix. It usually affects women in their reproductive years. It is characterized by the presence of a connective tissue core and overlying epithelium." "" + "adult Fanconi syndrome" "Probably related to a recessive gene, this is Fanconi Syndrome, characterised by adult onset." "" + "acquired Fanconi syndrome" "Fanconi Syndrome caused by exposure to noxious agents." "" + "Preeyasombat-Varavithya syndrome" "" + "alpha-gal syndrome" "An IgE antibody response to a mammalian oligosaccharide epitope, galactose-alpha-1,3-galactose (alpha-gal)." "" + "food protein-induced allergic proctocolitis" "A benign inflammatory colitis caused by a non-IgE-mediated immune reaction to ingested food proteins." "" + "susceptibility to angioedema induced by ACE inhibitors" "An inherited susceptibility or predisposition to developing renin-angiotensin-aldosterone system-blocker-induced angioedema." "" + "mast cell activation syndrome" "A clinically defined disease states with a largely unknown morphological background. Acute mast cell activation (MCA) is commonly seen in allergic reactions and often leads to the clinical signs and symptoms of anaphylaxis. Severe or even life‐threatening MCA may occur when the burden of mast cells is high and/or these cells are in an hyperactivated state. Mastocytosis may be associated with mast cell activation syndrome (MCAS)." "" + "primary mast cell activation syndrome" "Mast cell activation syndrome where KIT-mutated and clonal mast cells are detected." "" + "secondary mast cell activation syndrome" "Mast cell activation syndrome where an underlying inflammatory disease is present, often in the form of an IgE-dependent allergy, but there are no KIT-mutated mast cells." "" + "obsolete chronic inflammatory demyelinating polyneuropathy" "" "true" + "food protein-induced enterocolitis syndrome" "An eosinophilic gastrointestinal disorder triggered by food that is non-IgE-mediated." "" + "tendinosis" "The chronic degeneration of a tendon without inflammation." "" + "paratenonitis" "Inflammation of the outer layer of the tendon (paratenon) alone, whether or not the paratenon is lined by synovium." "" + "paratenonitis with tendinosis" "Paratenonitis associated with intratendinous degeneration." "" + "autoimmune retinopathy" "An autoimmune disease characterized by sudden onset of photopsias and scotomata in patients with no family history of retinitis pigmentosa, followed by visual field and central vision loss." "" + "adult-onset segmental dystonia" "" + "adult onset pityriasis rubra pilaris" "A pityriasis rubra pilaris that occurs around the fifth or sixth decade of life." "" + "ECHS1-related paroxysmal dyskinesia" "A paroxysmal dyskinesia which manifest as dystonic movements brought on by sustained exercise, that is correlated with a deficiency in the gene ECHS1 (caused by a missence mutation). Onset is typically between age two and four years." "" + "atypical childhood epilepsy with centrotemporal spikes" "A childhood-onset epilepsy that is characterized by frequent seizures of multiple types, including nocturnal focal motor and fronto-parietal opercular seizures, and daytime focal motor seizures with negative myoclonus and atypical absence seizures. Centrotemporal sharp waves are seen on EEG. During the phase of the epilepsy when seizures are frequent, neuropsychological deficits and motor impairment may be present. These deficits improve when seizures remit." "" + "photosensitive occipital lobe epilepsy" "A childhood-onset epilepsy that is characterized by the presence of visually-induced focal occipital lobe seizures. A proportion of patients with this syndrome have developmental delays and learning difficulty." "" + "self-limited familial and non-familial neonatal seizures" "A neonatal/infantile epilepsy sndrome that is characterized by the onset of seizures that start in the in the neonate between day 4 and 7 of life and are often unilateral clonic events that recur and may alternate sides from seizure to seizure. Seizures can be repetitive over hours to days. Seizures remit by 4-6 months of age. A proportion of those affected may have seizures in later life. The child is expected to have normal developmental progress." "" + "self-limited familial and non-familial infantile seizures" "This syndrome is characterized by the onset of seizures between 3 and 20 months of age (peak 6 months). Seizures may be frequent at onset but usually remit within 1 year from the onset. In untreated cases there can be isolated or brief clusters of seizures within the period from onset to remission. A minority of individuals may have epilepsy in later life. Some patients (with PRRT2 mutations) may develop paroxysmal kinesiogenic dyskinesia in later life." "" + "epilepsy of infancy with migrating focal seizures" "This syndrome is characterized by onset of refractory focal seizures in the first year of life, with associated severe encephalopathy. Focal seizures arise independently in both hemispheres and can migrate from one cortical region to another randomly but consecutively in the same seizure. Seizures are often prolonged with episodes of status epilepticus. Prognosis is poor with severe neurological disability and reduced life expectancy, although a milder evolution has been reported in a few children." "" + "myoclonic encephalopathy in non-progressive disorder" "This group of epilepsies are typically is characterized by onset of seizures from day 1 of life to 5 years (peak 12 months). Both sexes are affected, however the male to female ratio is 1:2. Antecedent (including birth) history, head size, neurological and developmental findings reflect the underlying cause (if known). Myoclonic status epilepticus is often the initial presenting seizure type, however other initial seizure types may also occur. Prognosis is unfavorable with severe neurological and developmental impairments typically seen." "" + "obsolete febrile seizures plus, genetic epilepsy with febrile seizures plus" "" "true" + "adolescent/adult onset autosomal dominant epilepsy with auditory features" "A genetic focal epilepsy, with focal sensory auditory seizures seen in family members. Seizures often comprise such mild symptoms that they are undiagnosed. There are no implications expected for development or learning and seizures are typically infrequent and well controlled." "" + "familial temporal lobe epilepsy syndrome" "This syndrome is identified in an individual who has seizures with temporal lobe features with a family history of similar seizures. Seizures often comprise such mild symptoms that they are undiagnosed. There are no implications expected for development or learning and seizures are typically infrequent and well controlled." "" + "cerebral folate deficiency" "Cerebral folate deficiency is defined as a neurological syndrome associated with low CSF 5-methyltetrahydrofolate (5MTHF), the active folate metabolite, in the presence of normal folate metabolism outside the nervous system. Cerebral folate deficiency can result from either disturbed folate transport or from increased folate turnover within the central nervous system." "" + "juvenile onset pityriasis rubra pilaris" "A pityriasis rubra pilaris that has a juvenile onset. The peak incidence has a bimodal distribution, with the first peak at age six to seven yearss. The classical childhood-onset subtype of PRP usually develops in the late teenage years but may also be seen in the first few years of life." "" + "secondary trimethylaminuria" "A type of trimethylaminuria that occurs as the result of treatment with large doses of dietary precursors of the offending chemical. Symptoms develop when the ability of the liver enzyme (flavin-containing monooxygenase 3) is insufficient to break down (metabolize) the excess trimethylamine." "" + "acrofrontofacionasal dysostosis 1" "" + "Usher syndrome, type 1D/F" "Any Usher syndrome in which the cause of the disease is a mutation in the CDH23 and PCDH15 genes." "" + "idiopathic mast cell activation syndrome" "Mast cell activation syndrome where neither an allergy or other underlying disease is association, nor KIT-mutated mast cells are detectable." "" + "acetazolamide-responsive hereditary episodic ataxia" "Periodic spells of incoordination and imbalance, that is, episodes of ataxia typically lasting from 10 minutes to several hours or days, with improvement upon therapy with acetazolamide." "" + "anaphylaxis" "An acute hypersensitivity reaction that occurs from exposure to an allergen. It results from the release of histamine and histamine-like substances from mast cells, and can present with breathing difficulty due to narrowed airways, dizziness and hypotension, skin rash, weak pulse, nausea and vomiting." "" + "idiopathic anaphylaxis" "Idiopathic anaphylaxis is a rare form of anaphylaxis for which triggers cannot be identified despite a detailed history and careful diagnostic assessment." "" + "intraosseous spindle cell rhabdomyosarcoma with TFCP2/NCOA2 rearrangements" "Intraosseous spindle cell rhabdomyosarcoma characterized by the fusion of the EWSR1 or FUS gene with the TFCP2 gene, or the MEIS1 gene with the NCOA2 gene." "" + "exercise-induced anaphylaxis" "A rare disorder in which anaphylaxis occurs in association with physical activity." "" + "food-dependent exercise-induced anaphylaxis" "A subset of exercise-induced anaphylaxis in which symptoms develop if exertion takes place within a few hours of eating a specific food. In the case of food-dependent exercise-induced anaphylaxis, neither the food nor the exercise alone is enough to cause anaphylaxis." "" + "hypereosinophilia of undetermined significance" "Long-lasting, unexplained and asymptomatic blood hypereosinophilia." "" + "congenital/infantile spindle cell rhabdomyosarcoma with VGLL2/NCOA2/CITED2 rearrangements" "Congenital/infantile spindle cell rhabdomyosarcoma characterized by the presence of gene fusions involving the VGLL2, SRF, TEAD1, NCOA2, and CITED2 genes." "" + "PRPS1 deficiency disorder" "A peripheral neuropathy that is characterized by variants in PRPS1, which causes decreased or impaired function of the PRPS1 enzyme, and presents as a range of peripheral neuropathies that can include features of Charcot-Marie Tooth syndrome, Arts syndrome, or nonsyndromic hearing loss." "" + "Pericytoma with t(7;12)" "A rare soft tissue neoplasm that displays a perivascular pattern of spindle-to-ovoid cell proliferation." "" + "TH-deficient infantile parkinsonism and motor delay" "A tyrosine hydroxylase deficiency with onset typically between age three and 12 months. Motor milestones are overtly delayed in this severe form. Affected infants demonstrate truncal hypotonia and parkinsonian symptoms and signs (hypokinesia, rigidity of extremities, and/or tremor)." "" + "TH-deficient progressive infantile encephalopathy" "A tyrosine hydroxylase deficiency in which individuals are extremely sensitive to levodopa therapy. In this very severe form, treatment with levodopa is often limited by intolerable dyskinesias." "" + "childhood spindle cell rhabdomyosarcoma" "A spindle cell rhabdomyosarcoma occurring in children." "" + "SLC10A7-CDG" "SLC10A7 deficiency is characterized by compound heterozygous mutations in the SLC10A7 gene, a gene of unknown function in humans. It combines overlapping clinical phenotypes characterized by short stature, defective enamel formation (amelogenesis imperfecta), skeletal dysplasia, facial dysmorphism, moderate hearing impairment and mildly impaired intellectual developmen." "" + "hearing impairment and infertile male syndrome" "A syndromic genetic deafness characterized by segregation of nonsyndromic hearing loss in females and hearing loss with infertility in males. Affected males have been reported to have low count to absent sperm, immobile sperm, and/or sperm with abnormal morphology." "" + "cardiocutaneous syndrome" "Cardiocutaneous syndromes are those in which phenotypic manifestations occur in the heart, skin, and/or hair. Variation in the genes of interest may occur in both an autosomal dominant inheritance pattern and autosomal recessive, which may lead to earlier and/or more severe phenotypic presentation." "" + "neonatal diabetes, congenital sensorineural hearing loss and congenital cataracts" "Neonatal diabetes, congenital sensorineural hearing loss and congenital cataracts is characterized by the three primary phenotypes of neonatal diabetes, congenital sensorineural hearing loss and congenital cataracts. Cases have reported additional varying phenotypes, including optic atrophy, hypothyroidism, severe neonatal hypotonia in males, developmental delay, facial abnormalities, and a few other more rare phenotypes. The severity and congenital onset of the phenotypes distinguish these patients from Wolfram-like syndrome patients." "" + "methicillin-resistant staphylococcus aureus infectious disease" "Infections caused by a strain of Staphylococcus aureus that is non-susceptible to the action of the antibiotic, methicillin. The mechanism of resistance usually involves modification of normal or the presence of acquired penicillin binding proteins." "" + "norovirus infectious disease" "Infections caused by viruses of the genus in the family caliciviridae, which is associated with epidemic gastroenteritis in humans." "" + "jaw fracture" "A traumatic or pathologic injury to the jaw in which the continuity of the bone is broken." "" + "juvenile idiopathic scoliosis" "A scoliosis with no known cause arising in a juvenile." "" + "congenital alveolar dysplasia" "A congenital alveolar dysplasia characterized anatomically by a defective and hypoplastic development of pulmonary alveoli that is commonly associated with atelectasis and can be responsible for atelectasis." "" + "resistant hypertension" "A severe medical condition which is estimated to appear in 9-18% of hypertensive patients, in which treatement with 3 or more antihypertensive drugs including diuretics are ineffective." "" + "developmental and epileptic encephalopathy, 6" "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SCN1A gene." "" + "LEOPARD syndrome 1" "Any Noonan syndrome with multiple lentigines in which the cause of the disease is a heterozygous mutation in the PTPN11 gene on chromosome 12q24." "" + "hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1" "This is an autosomal dominant disorder caused by mutations in the RUNX1 gene and is characterized by mild to moderate thrombocytopenia, platelet functional and/or ultrastructural defects and a predisposition to hematologic malignancies, most often AML and MDS, and less frequently T-ALL." "" + "cancer of long bone of upper limb" "A cancer that involves the upper limb long bone." "" + "obsolete late-onset familial alzheimer disease" "" "true" + "congenital alveolar dysplasia due to FGF10" "Any congenital alveolar dysplasia in which the cause of the disease is a mutation in the FGF10 gene." "" + "myoclonus, familial, 2" "Familial cortical myoclonus caused by heterozygous mutation in the SCN8A gene on chromosome 12q13." "" + "myoclonus, familial, 1" "Familial cortical myoclonus caused by heterozygous mutation in the NOL3 gene on chromosome 16q22." "" + "cannabinoid hyperemesis syndrome" "A syndrome of cyclic vomiting associated with cannabis use. Fourteen diagnostic characteristics have been identified, and the frequency of major characteristics is as follows: history of regular cannabis for any duration of time (100%), cyclic nausea and vomiting (100%), resolution of symptoms after stopping cannabis (96.8%), compulsive hot baths with symptom relief (92.3%), male predominance (72.9%), abdominal pain (85.1%), and at least weekly cannabis use (97.4%). Supportive care with intravenous fluids, dopamine antagonists, topical capsaicin cream, and avoidance of narcotic medications has shown some benefit in the acute setting. Cannabis cessation appears to be the best treatment." "" + "COVID-19" "A disease caused by infection with severe acute respiratory syndrome coronavirus 2." "" + "SARS-CoV-2-related disease" "A viral disease or post-viral disorder caused by infection with severe acute respiratory syndrome coronavirus 2 or the associated aftereffects of the disease." "" + "congenital alveolar dysplasia due to TBX4" "Any congenital alveolar dysplasia in which the cause of the disease is a mutation in the TBX4 gene." "" + "retrograde cricopharyngeus dysfunction" "A syndrome characterized by the inability to belch, abdominal bloating and discomfort/nausea, or chest pain, especially after eating, socially awkward gurgling noises from the chest and lower neck as though the esophagus is churning and straining to eject the air, excessive flatulence, social inhibition, and difficulty vomiting (common but not universal). Botulinum toxin (BT) injection into the cricopharyngeus muscle (CPM) is done for both diagnosis and treatment of R-CPD." "" + "fetal akinesia deformation sequence 1" "Any fetal akinesia deformation sequence in which the cause of the disease is a mutation in the MUSK gene." "" + "fetal akinesia deformation sequence 2" "Any fetal akinesia deformation sequence in which the cause of the disease is a mutation in the RAPSN gene." "" + "fetal akinesia deformation sequence 3" "Any fetal akinesia deformation sequence in which the cause of the disease is a mutation in the DOK7 gene." "" + "fetal akinesia deformation sequence 4" "Any fetal akinesia deformation sequence in which the cause of the disease is a mutation in the NUP88 gene." "" + "brain small vessel disease 3" "An autosomal recessive disorder resulting from fragility of cerebral vessels causing an increased risk of intracranial bleeding. The resultant phenotype is highly variable depending on timing and location of the intracranial bleed. Some patients may have onset in utero or early infancy, with subsequent global developmental delay, spasticity, and porencephaly on brain imaging. Other patients may have normal or mildly delayed development with sudden onset of intracranial hemorrhage causing acute neurologic deterioration." "" + "obsolete neonatal epileptic encephalopathy" "A form of age-related epileptic encephalopathy, characterized by the onset of seizures within the first 4 weeks of life that can be generalized or lateralized, independent of the sleep cycle, and that can result in frequent seizures per day, leading to psychomotor impairment and death." "" "true" + "non-neonatal early infantile epileptic encephalopathy" "Non-neonatal early-onset epileptic encephalopathy is a form an of age-related epileptic encephalopathies, characterized by the onset of seizures later than the first 4 weeks of life but within the first three months. Seizures can be generalized or lateralized, independent of the sleep cycle and can occur multiple times per day, leading to psychomotor impairment and death." "" + "Zinner syndrome" "A rare condition comprising a triad of unilateral renal agenesis, ipsilateral seminal vesicle obstruction and ipsilateral ejaculatory duct obstruction." "" + "adenovirus renal infection" "" + "focal segmental glomerulosclerosis and neurodevelopmental syndrome" "A Mendelian diseases characterized by global developmental delay and renal dysfunction manifest as proteinuria and nephrotic syndrome apparent from infancy or early childhood. Some patients present with renal disease, whereas others present with developmental delay and develop renal disease later in childhood. Renal biopsy shows focal segmental glomerulosclerosis (FSGS), but the course of the disease is variable: some patients have transient proteinuria and others require renal transplant. Neurodevelopmental features are also variable, with some patients having only mildly impaired intellectual development, and others having a severe developmental disorder associated with early-onset refractory seizures or epileptic encephalopathy. Additional features, including feeding difficulties, poor overall growth, and nonspecific dysmorphic facial features, are commonly observed." "" + "acyl-CoA binding domain containing protein 5 deficiency" "A disorder of a single peroxisomal protein, acyl-CoA binding domain containing protein 5, which forms a contact site between the peroxisomes and the ER. The deficiency is characterized by elevated blood very long-chain fatty acids (VLCFAs), retinal dystrophy, cerebral white matter disease and psychomotor delay." "" + "hearing loss with skin disease" "Nonsyndromic deafness, keratitis-ichthyosis-deafness syndrome, and palmoplantar keratoderma with deafness have all been associated with autosomal dominant variants in GJB2. Reported cases share hearing loss as a feature, therefore it is likely that these phenotypes exist along a spectrum of the same disease, differing in severity of skin phenotypes." "" + "dry age related macular degeneration" "Dry age related macular degeneration is characterized by the presence of age-related deposits called drusen and atrophy." "" + "acute flaccid myelitis" "An acute onset of focal limb weakness that is associated mainly with gray matter abnormalities or CSF pleocytosis, but which is without an apparent cause." "" + "Middle East respiratory syndrome" "A viral respiratory infection that is caused by the MERS coronavirus (MERS-CoV), which most often manifests with moderate to severe respiratory symptoms, including productive cough and shortness of breath, which can progress to pneumonia and acute respiratory distress syndrome." "" + "hallucinogen-persisting perception disorder" "A perceptual disorder caused by intoxication with hallucinogen drugs, especially LSD. It is characterized by the recurrence of perceptive disturbances that first develop during intoxication. The contents of the perception and visual imagery range extensively and symptoms may include visual disturbances, hallucinations, and psychoses." "" + "coinfection" "The simultaneous infection of a host by multiple pathogen species." "" + "intracranial arachoid cyst" "A cystic malformation that is characterized by extraparenchymal, nonneoplastic accumulations of fluid with density similar to that of cerebrospinal fluid." "" + "adult acute respiratory distress syndrome" "A very severe form of acute pulmonary failure secondary to capillary permeability impairment. The symptoms include dyspnea, hypotension and multivisceral failure. The disease is characterized by bilateral pulmonary infiltrates and severe hypoxemia due to increased alveolar-capillary permeability. The severity depends on the degree of alveolar epithelial injury, with a mortality rate of 30-50%." "" + "intrahepatic bile duct adenosquamous carcinoma" "An adenosquamous carcinoma that arises from the intrahepatic bile ducts." "" + "mitochondrial complex I deficiency" "A type of mitochondrial disease charcterized by macrocephaly (large head) with progressive leukodystrophy, encephalopathy, hypertrophic cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. The disease is caused by mutations in any of many genes and the inheritance pattern depends on the responsible gene." "" + "obsolete Fanconia anemia complementation group M" "OBSOLETE Any Fanconi anemia in which the cause of the disease is a mutation in the FANCM gene." "" "true" + "X-linked recessive mitochondrial myopathy" "A mitochondrial myopathy caused by defects in the MICOS subunit gene APOO (MIC26). Modelling in yeast and flies demonstrate an inability to insert MICOS complex into the inner mitohondrial membrane. Associated symptoms include, lactic acidosis, cognitive impairment and autistic features." "" + "obsolete asymptomatic COVID-19 infection" "A COVID-19 infection where individuals test positive for SARS-CoV-2 but have no symptoms across the entire course of the disease." "" "true" + "obsolete mild COVID-19 infection" "A COVID-19 infection that presents with various signs and symptoms (e.g., fever, cough, sore throat, malaise, headache, muscle pain) without shortness of breath, dyspnea, or abnormal imaging." "" "true" + "obsolete moderate COVID-19 infection" "A COVID-19 infection where individuals who have evidence of lower respiratory disease by clinical assessment or imaging and a saturation of oxygen (SpO2) >93% on room air at sea level." "" "true" + "obsolete severe COVID-19 infection" "A COVID-19 infection where individuals have respiratory frequency >30 breaths per minute, SpO2 ≤93% on room air at sea level, ratio of arterial partial pressure of oxygen to fraction of inspired oxygen (PaO2/FiO2) <300, or lung infiltrates >50%." "" "true" + "obsolete critical COVID-19 infection" "A COVID-19 infection that involves respiratory failure, septic shock, and/or multiple organ dysfunction." "" "true" + "Uner Tan Syndrome" "A tubulinopathy with material basis in TUBB2B that is characterized by variations in R390Q, quadrupedal locomotion, cerebellar hypoplasia and does not have basal ganglia malformations." "" + "obsolete presymptomatic COVID-19 infection" "A COVID-19 infection where individuals test positive for SARS-CoV-2 but have no symptoms when they first test positive, but develop symptoms later on." "" "true" + "Imerslund-Grasbeck syndrome type 1" "An autosomal recessive disorder characterized by onset of megaloblastic anemia associated with decreased serum vitamin B12 (cobalamin, Cbl) in infancy or early childhood. Low molecular weight (LMW) proteinuria is frequently present, but sometimes occurs later and is usually mild or subclinical. Patients often present with vague symptoms, including failure to thrive, loss of appetite, fatigue, lethargy, and/or recurrent infections. Some patients may present later in childhood with neurologic abnormalities related to B12 deficiency, such as sensorimotor neuropathy and/or cognitive disturbances." "" + "Imerslund-Grasbeck syndrome type 2" "An autosomal recessive disorder characterized by onset of megaloblastic anemia associated with decreased serum vitamin B12 (cobalamin, Cbl) in infancy or early childhood. Low molecular weight (LMW) proteinuria is frequently present, but usually occurs later and is usually mild or subclinical. Patients often present with vague symptoms, including failure to thrive, loss of appetite, fatigue, lethargy, and/or recurrent infections. Treatment with vitamin B12 results in sustained clinical improvement of the anemia. The proteinuria is nonprogressive, and affected individuals do not have deterioration of kidney function; correct diagnosis is important to prevent unnecessary treatment. The disorder results from a combination of vitamin B12 deficiency due to selective malabsorption of the vitamin, and impaired reabsorption of LMW proteins in the proximal renal tubule. These defects are caused by disruption of the AMN/CUBN complex that forms the 'cubam' receptor responsible for intestinal uptake of B12/GIF (CBLIF)." "" + "alcoholic ketoacidosis" "An acute disease characterized by severe ketoacidosis in the absence of diabetes mellitus and occuring in individuals with a history of prolonged excessive alcohol consumption. Disease manifestations include nausea, intractable vomiting, and abdominal pain. When treated, AKA resolves rapidly and completely with no apparent sequelae." "" + "hyperkalemic renal tubular acidosis" "Renal tubular acidosis (RTA) that is caused by a generalized transport abnormality of the distal tubule. The transport of electrolytes such as sodium, chloride, and potassium that normally occurs in the distal tubule is impaired. This form is distinguished from classical distal RTA and proximal RTA because it results in high levels of potassium in the blood instead of low levels." "" + "COVID-19–associated multisystem inflammatory syndrome in children" "A inflammatory syndrome in children infected by the SARS-CoV-2 with similarities to Kawasaki disease. Clinical manifestations range from fever and inflammation to myocardial injury, shock, and development of coronary artery aneurysms." "" + "permanent neonatal diabetes mellitus 1" "A rare autosomal recessive disorder characterized by severe hyperglycemia which requires insulin treatment soon after birth. The disorder results from a complete lack of glucokinase; total absence of basal insulin release was observed as well." "" + "AP-4 deficiency syndrome" "A genetic disorder associated with variation(s) in the AP4 genes: AP4B1, AP4E1, AP4M1, and AP4S1. The phenotypes observed in individuals with genetic variants in these genes are often complex and include intellectual disability, spastic paraplegia, microcephaly, brain abnormalities, and seizures." "" + "immune reconstitution inflammatory syndrome" "An inflammatory condition that arises after initiating antiretroviral therapy (ART) therapy in HIV-infected patients that results from restored immunity to specific infectious or non-infectious antigens." "" + "GTP cyclohydrolase I deficiency with hyperphenylalaninemia" "" + "combined ApoA-I and ApoC-III deficiency" "A hypoalphalipoproteinemia that is has its basis in the disruption of ApoA-I and ApoC-III." "" + "chronic liver failure" "Liver failure that develops slowly and gradually for some time, possibly for years, often as the result of cirrhosis, or malnutrition." "" + "pregnancy associated osteoporosis" "A severe early presentation of osteoporosis in which young women experience low trauma or spontaneous fractures, most commonly vertebral fractures, during late pregnancy or lactation." "" + "parainfluenza virus type 1 infectious disease" "A disease caused by infection with parainfluenza virus type 1." "" + "parainfluenza virus type 2 infectious disease" "A disease caused by infection with parainfluenza virus type 2." "" + "parainfluenza virus type 4 infectious disease" "A disease caused by infection with parainfluenza virus type 4." "" + "growth hormone insensitivity syndrome with immune dysregulation" "" + "growth hormone insensitivity with immune dysregulation 1, autosomal recessive" "" + "IFAP syndrome" "" + "Rajab interstitial lung disease with brain calcifications" "" + "Rajab interstitial lung disease with brain calcifications 1" "" + "arthrogryposis multiplex congenita 5" "" + "growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant" "" + "Rajab interstitial lung disease with brain calcifications 2" "" + "IFAP syndrome 2" "" + "A20 haploinsufficiency" "Any immune dysregulation disease in which the cause of the disease is a mutation in the TNFAIP3 gene." "" + "mitochondrial complex I deficiency, nuclear type 1" "" + "parasomnia, sleepwalking type" "A disorder in which a series of complex behaviors are initiated during slow-wave (non-REM) sleep and result in walking during sleep. It is a parasomnia, defined as a clinical disorder resulting in undesirable physical phenomena that occur predominantly during sleep. Parasomnias are not abnormalities of the processes responsible for sleep and wake states. Sleepwalking is more common in childhood (up to 26%), and usually resolves in adolescence; however, it can persist into adulthood (3%)." "" + "obsolete Heimler syndrome" "A peroxisoome biogenesis disorder characterised by sensorineural hearing loss, enamel hypoplasia of the secondary dentition, nail abnormalities and occasional or late-onset retinal pigmentation abnormalities, in which the cause of the disease is a mutation in peroxisomal biogenesis factor 1 (PEX1) or peroxisomal biogenesis factor 6 (PEX6) genes." "" "true" + "fatty acyl-CoA reductase 1 dysregulation" "A disorder of plasmalogens biosynthesis, that is an autosomal dominant neurological disorder that results in uncontrolled synthesis of ether lipids." "" + "psoriatic arthritis, susceptibility to, 1" "A susceptibility or predisposition to psoriatic arthritis, in which the cause of the disease is a mutation in the LTA gene. Psoriatic arthritis affects more than 10% of patients with psoriasis and, in most cases, there is an association between the severity of the arthritis and the skin involvement." "" + "psoriatic arthritis, susceptibility to" "An inherited susceptibility or predisposition to developing psoriatic arthritis." "" + "long COVID-19" "A chronic disease triggered by acute COVID-19 infection that is characterized by persistent symptoms following the acute phase of the SARS-CoV-2 infection, which may include fatigue, coughing, dyspnea, clouding of mentation, sleep disturbances, exercise intolerance and autonomic symptoms including tachycardia upon mild exercise or standing, night sweats, temperature dysregulation, gastroparesis, constipation or loose stools, and peripheral vasoconstriction." "" + "paroxysmal nocturnal hemoglobinuria" "An instance of paroxysmal nocturnal hemoglobinuria that is inherited or acquired." "" + "acquired paroxysmal nocturnal hemoglobinuria" "Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired clonal hematopoietic stem cell disorder characterized by corpuscular hemolytic anemia, bone marrow failure and frequent thrombotic events." "True" + "rapidly progressive primary central nervous system vasculitis" "A subset of primary central nervous system vasculitis where disease is rapidly progressive after onset that is characterized by bilateral, multiple, large cerebral vessel lesions and multiple CNS infarctions." "" + "46,XX sex reversal 1" "" + "familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome" "" + "tumoral calcinosis, hyperphosphatemic, familial, 1" "" + "adenosine kinase deficiency" "A rare inborn error of metabolism characterized by persistent hypermethioninemia with increased levels of S-adenosylmethionine and S-adenosylhomocysteine which manifests with encephalopathy, severe global developmental delay, mild to severe liver dysfunction, hypotonia and facial dysmorphism (most significant is frontal bossing, macrocephaly, hypertelorism and depressed nasal bridge). Epileptic seizures, hypoglycemia and/or cardiac defects (pulmonary stenosis, atrial and/or ventricular septal defect, coarctation of the aorta) may be associated. Clinical picture may range from neurological symptoms only to multi-organ involvement." "" + "disorder of peroxisomal alpha oxidation" "Any peroxisomal single enzyme/protein defect that has its basis in the disruption of peroxisomal alpha oxidatiion." "" + "non-Zellweger spectrum disorder" "A peroxisome biogenesis disorder which is due to defect in PEX7 or PEX5. This includes rhizomelic chondrodysplasia punctata due to defect in PEX7 or PEX5, and adult Refsum Disease due to defects in PEX7." "" + "macroglobulinemia, Waldenstrom, 1" "" + "SC phocomelia syndrome" "" + "extrahepatic biliary atresia" "A disorder of infants in which there is progressive obliteration or discontinuity of the extrahepatic biliary system, resulting in obstruction of bile flow." "" + "respiratory syncytial virus bronchiolitis" "Bronciolitis caused by infection with respiratory syncytial virus." "" + "enhanced S-cone syndrome" "An autosomal recessive retinopathy in which patients have increased sensitivity to blue light; perception of blue light is mediated by what is normally the least populous cone photoreceptor subtype, the S (short wavelength, blue) cones. Characteristics include visual loss, with night blindness occurring from early in life, varying degrees of L (long, red)- and M (middle, green)-cone vision, and retinal degeneration." "" + "Goldmann-Favre syndrome" "A vitreoretinal dystrophy characterized by early onset of night blindness, reduced bilateral visual acuity, and typical fundus findings (progressive pigmentary degenerative changes, macular edema, retinoschisis)." "" + "colon serrated polyposis" "The presence of multiple serrated polyps in the colon. The polyps are predominantly sessile serrated adenomas/polyps. A minority of the polyps are microvesicular variants of hyperplastic polyps. According to some authors, the polyps are proximal to the sigmoid colon. According to others, the polyps are distributed throughout the entire colon." "" + "early T cell progenitor acute lymphoblastic leukemia" "T acute lymphoblastic leukemia in which the blasts have unique immunophenotypic and genetic characteristics suggesting only limited early T-cell differentiation." "" + "mitochondrial complex II deficiency, nuclear type 1" "Complex II deficiency is a mitochondrial disease. Mitochondria are specialized compartments in cells that create more than 90% of the energy needed by the body. In mitochondrial diseases, the mitochondria don't work correctly resulting in less energy in the cell, cell injury and cell death. The signs and symptoms of mitochondrial complex II deficiency can vary greatly from severe life-threatening symptoms in infancy to muscle disease beginning in adulthood. Complex II deficiency can be caused by mutations in the SDHA, SDHB, SDHD, or SDHAF1 genes. In many cases the underlying gene mutations cannot be identified. Complex II deficiency is inherited in an autosomal recessive fashion. Complex II deficiency gene mutation carriers may be at an increased risk for certain cancers." "" + "Olmsted syndrome 1" "Mutilating palmoplantar keratoderma (PPK) with periorificial keratotic plaques (also known as Olmsted syndrome) is a hereditary palmoplantar keratoderma characterized by the combination of bilateral mutilating transgredient palmoplantar keratoderma and periorificial keratotic plaques." "" + "short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1" "" + "disorder of bile acid aminotransferase" "Any peroxisomal single enzyme/protein defect that has its basis in the disruption of bile acid aminotransferase." "" + "bile acid CoA:amino acid N-acyltransferase deficiency" "Any disorder of bile acid aminotransferase in which the cause of the disease is a mutation in the BAAT gene." "" + "adult Refsum disease due to PEX7 defect" "An adult Refsum disease in which the cause of the disease is a mutation in the PEX7 gene." "" + "vestibular ataxia" "Any ataxia in which the causes of the disease is a perturbation of the vestibular system, leading to its dysfunction." "" + "isolated adrenal insufficiency" "An ABCD1 deficiency that presents with primary adrenocortical insufficiency between age two years and adulthood and most commonly by age 7.5 years, without evidence of neurologic abnormality; however, some degree of neurologic disability (most commonly adrenomyeloneuropathy (AMN)) usually develops by middle age." "" + "long QT syndrome 1" "" + "COVID-19–associated multisystem inflammatory syndrome in adults" "A inflammatory syndrome in adults infected by the SARS-CoV-2 with severe illness requiring hospitalization in a person aged ≥21 years; a positive test result for current or previous SARS-CoV-2 infection (nucleic acid, antigen, or antibody) during admission or in the previous 12 weeks; severe dysfunction of one or more extrapulmonary organ systems (e.g., hypotension or shock, cardiac dysfunction, arterial or venous thrombosis or thromboembolism, or acute liver injury); laboratory evidence of severe inflammation (e.g., elevated CRP, ferritin, D-dimer, or interleukin-6); and absence of severe respiratory illness (to exclude patients in which inflammation and organ dysfunction might be attributable simply to tissue hypoxia)." "" + "odontochondrodysplasia 1" "Odontochondrodysplasia, also called Goldblatt syndrome, is a very rare syndrome associating chondrodysplasia with dentinogenesis imperfecta." "" + "obsolete viral infectious disease or sequela" "" "true" + "Friedreich ataxia 1" "Any Friedreich ataxia in which the cause of the disease is a mutation in the FXN gene." "" + "Bartter disease type 1" "" + "neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities" "An autosomal recessive disorder characterized by global developmental delay apparent in infancy. Affected individuals have delayed walking with variable gait abnormalities, impaired intellectual development with poor or absent speech and language, and progressive microcephaly. More variable features include hypotonia, early-onset seizures, and a peripheral demyelinating or axonal peripheral sensorimotor neuropathy. The disease follows a neurodegenerative course in many patients; clinical features suggest involvement of both the central and peripheral nervous systems." "" + "episodic kinesigenic dyskinesia 1" "" + "HHV-7 infectious disease" "A disease caused by infection with herpesvirus-7." "" + "megacystis-microcolon-intestinal hypoperistalsis syndrome 1" "" + "classic or non-classic genetic disease presentation" "A classic (severe) or non-classic (mild or intermediate) form of a genetic disease." "" + "herpes simplex type 1 infectious disease" "A disease caused by infection with herpes simplex type 1." "" + "herpes simplex type 2 infectious disease" "A disease caused by infection with herpes simplex type 2." "" + "lip herpes simplex type 1 infectious disorder" "Any herpes simplex type 1 infectious disease that involves the lip. This virus usually responsible for cold sores (herpes labialis)." "" + "lip herpes simplex type 2 infectious disorder" "Any herpes simplex type 2 infectious disease that involves the lip." "" + "genital herpes simplex type 2 infectious disorder" "Any herpes simplex type 2 infectious disease that involves the genitals." "" + "genital herpes simplex type 1 infectious disorder" "Any herpes simplex type 1 infectious disease that involves the genitals." "" + "port-wine nevi-mega cisterna magna-hydrocephalus syndrome" "A rare developmental defect during embryogenesis syndrome characterized by a glabellar capillary malformation, congenital communicating hydrocephalus, and posterior fossa brain abnormalities, including Dandy-Walker malformation, cerebellar vermis agenesis, and mega cisterna magna. Seizures are occasionally associated. There have been no further descriptions in the literature since 1979." "" + "iatrogenic or non-iatrogenic" "A iatrogenic or non-iatrogenic form of a disease." "" + "acute hepatitis B virus infection" "A new infection by the hepatitis B virus, which can be transmitted by direct contact of infected blood with mucous membranes or open areas of the skin. Signs and symptoms may include loss of appetite, joint and muscle pain, low-grade fever and stomach pain. Two to six percent of adults progress to a chronic infection, while 90% of infants become chronically ill. A vaccine is available for those at risk." "" + "acute hepatitis C virus infection" "A new infection by the hepatitis C virus, which can be detected in blood. Signs and symptoms may include right upper quadrant abdominal pain, jaundice, dark urine, white stools and nausea. Approximately 15%-25% individuals clear the virus from their bodies without treatment. 75%-85% individuals develop chronic hepatitis C. There are possible treatments depending on individual characteristics." "" + "acute myeloid leukemia, inv(16)(p13.1;q22)" "Any acute myeloid leukemia that has the chromosomal anomaly inv(16)(p13.1;q22). (A chromosomal inversion that involves chromosome 16. It is associated with the development of acute myeloid leukemia CBFB-MYH11, acute myelomonocytic leukemia with abnormal eosinophils, and granulocytic sarcoma.)" "" + "acute myeloid leukemia, t(16;16)(p13.1;q22)" "Any acute myeloid leukemia that has the chromosomal anomaly t(16;16)(p13.1;q22). (A chromosomal translocation that involves chromosome 16. It is often associated with the development of acute myeloid leukemia CBFB-MYH11, acute myelomonocytic leukemia with abnormal eosinophils, and granulocytic sarcoma.)" "" + "acute myeloid leukemia, t(15;17)(q24;q21)" "Any acute myeloid leukemia that has the chromosomal anomaly t(15;17)(q24;q21). (A chromosomal translocation associated with creation of a fusion between the PML and RARA genes. It is seen in variants of acute promyelocytic leukemia.)" "" + "acute myeloid leukemia, t(9;11)(p21.3;q23.3)" "Any acute myeloid leukemia that has the chromosomal anomaly t(9;11)(p21.3;q23.3). (A cytogenetic abnormality that refers to the translocation of the short arm (p21.3) of chromosome 9 and the long arm (q23.3) of chromosome 11. It is associated with the development of acute myeloid leukemia with the MLLT3-MLL fusion gene transcript.)" "True" + "acute myeloid leukemia, t(10;11)(p12;q23)" "Any acute myeloid leukemia that has the chromosomal anomaly t(10;11)(p12;q23). (A cytogenetic abnormality that refers to the translocation of chromosome 10p12 with chromosome 11q23. It is associated with acute myeloid leukemia in childhood.)" "" + "acute myeloid leukemia, t(10;11)(p11.2;q23)" "Any acute myeloid leukemia that has the chromosomal anomaly t(10;11)(p11.2;q23). (A cytogenetic abnormality that refers to the translocation of the short arm (p11.2) of chromosome 10 and the long arm (q23) of chromosome 11. It is associated with KMT2A (MLL)/ABI1 fusions and acute myeloid leukemia.)" "" + "acute myeloid leukemia, t(1;11)(q21;q23)" "Any acute myeloid leukemia that has the chromosomal anomaly t(1;11)(q21;q23). (A cytogenetic abnormality that refers to the translocation of the long arm (q21) of chromosome 1 and the long arm (q23) of chromosome 11. It is associated with KMT2A (MLL)/MLLT11 (AF1Q) fusions, acute myeloid leukemia and some cases of acute lymphoblastic leukemia.)" "" + "acute myeloid leukemia, t(4;11)(q21;q23)" "Any acute myeloid leukemia that has the chromosomal anomaly t(4;11)(q21;q23). (A chromosomal abnormality consisting of the translocation of 4q21 with 11q23.)" "" + "acute myeloid leukemia, t(6;11)(q27;q23)" "Any acute myeloid leukemia that has the chromosomal anomaly t(6;11)(q27;q23). (A cytogenetic abnormality that refers to the translocation of the long arm (q27) of chromosome 6 and the long arm (q23) of chromosome 11. It is associated with the development of de novo acute myeloid leukemia.)" "" + "acute myeloid leukemia, t(6;9)(p23;q34.1)" "Any acute myeloid leukemia that has the chromosomal anomaly t(6;9)(p23;q34.1). (A cytogenetic abnormality that refers to the translocation of the short arm (p23) of chromosome 6 and the long arm (q34.1) of chromosome 9. It is associated with DEK/NUP214 fusions, acute myeloid leukemia and myelodysplastic syndromes.)" "" + "acute myeloid leukemia, t(11;19)(q23;p13)" "Any acute myeloid leukemia that has the chromosomal anomaly t(11;19)(q23;p13). (A cytogenetic abnormality that refers to the translocation of the long arm (q23) of chromosome 11 and the short arm (p13) of chromosome 19. It is associated with KMT2A (MLL) fusions, including those with MLLT1 (ENL) and ELL, and acute myeloid leukemia.)" "" + "acute myeloid leukemia, t(11;19)(q23;p13.1)" "Any acute myeloid leukemia that has the chromosomal anomaly t(11;19)(q23;p13.1). (A cytogenetic abnormality that refers to the translocation of the long arm (q23) of chromosome 11 and the short arm (p13.1) of chromosome 19. It is associated with the development of acute myeloid leukemia with variant MLL translocations and topoisomerase II inhibitor-related acute myeloid leukemia.)" "" + "acute myeloid leukemia, t(11;19)(q23.3;p13.3)" "Any acute myeloid leukemia that has the chromosomal anomaly t(11;19)(q23.3;p13.3). (A cytogenetic abnormality that refers to the translocation of the long arm (q23.3) of chromosome 11 and the short arm (p13.3) of chromosome 19. It is associated with KMT2A (MLL)/MLLT1 (ENL) fusions and acute myeloid leukemia.)" "" + "acute myeloid leukemia, t(v;11q23.3)" "Any acute myeloid leukemia that has the chromosomal anomaly t(v;11q23.3). (A chromosomal abnormality consisting of the translocation of genetic material from any one of several chromosomes to the 11q23.3 region, resulting in an MLL gene rearrangement.)" "" + "acute myeloid leukemia, Monosomy 7" "Any acute myeloid leukemia that has the chromosomal anomaly Monosomy 7. (A chromosomal abnormality consisting of the absence of one of the copies of chromosome 7 in somatic cells.)" "True" + "acute myeloid leukemia, Monosomy 5" "Any acute myeloid leukemia that has the chromosomal anomaly Monosomy 5. (A cytogenetic aneuploidy abnormality that refers to the presence of one chromosome 5 only. It is associated with the development of refractory anemia with excess blasts, refractory anemia with multilineage dysplasia, and refractory anemia with multilineage dysplasia and ringed sideroblasts.)" "" + "acute myeloid leukemia, Trisomy 8" "Any acute myeloid leukemia that has the chromosomal anomaly Trisomy 8. (A chromosomal abnormality consisting of the presence of a third copy of chromosome 8 in somatic cells.)" "" + "acute myeloid leukemia, der12p" "Any acute myeloid leukemia that has the chromosomal anomaly der12p. (A cytogenetic abnormality involving the rearrangement of two or more other chromosomes with the short arm of chromosome 12 (12p).)" "" + "acute myeloid leukemia, t(2;12)" "Any acute myeloid leukemia that has the chromosomal anomaly t(2;12). (A cytogenetic abnormality that involves a translocation between chromosomes 2 and 12.)" "" + "acute myeloid leukemia, t(11;17)" "Any acute myeloid leukemia that has the chromosomal anomaly t(11;17). (A cytogenetic abnormality that involves a translocation between chromosomes 11 and 17.)" "" + "acute myeloid leukemia, t(8;16)" "Any acute myeloid leukemia that has the chromosomal anomaly t(8;16). (A cytogenetic abnormality that involves a translocation between chromosomes 8 and 16.)" "" + "acute myeloid leukemia, t(1;22)" "Any acute myeloid leukemia that has the chromosomal anomaly t(1;22). (A cytogenetic abnormality that involves a translocation between chromosomes 1 and 22.)" "" + "acute myeloid leukemia, t(5;11)(q35;p15)" "Any acute myeloid leukemia that has the chromosomal anomaly t(5;11)(q35;p15). (A cytogenetic abnormality that refers to the translocation of chromosome 11p15 with chromosome 5q35. It results in the formation of NUP98/NSD1 fusion gene. It is associated with the development of acute myeloid leukemia with t(5;11)(q35;p15); NUP98-NSD1.)" "" + "acute myeloid leukemia, t(7;12)(q36;p13)" "Any acute myeloid leukemia that has the chromosomal anomaly t(7;12)(q36;p13). (A chromosomal translocation involving the ETV6 gene on chromosome 12p13 and HLXB9 gene on chromosome 7q36.)" "" + "acute myeloid leukemia, t(9;22)(q34.1;q11.2)" "Any acute myeloid leukemia that has the chromosomal anomaly t(9;22)(q34.1;q11.2). (A translocation between chromosomes 9 and 22 that is associated with the Philadelphia chromosome.)" "" + "acute myeloid leukemia, inv(3)(q21.3;q26.2)" "Any acute myeloid leukemia that has the chromosomal anomaly inv(3)(q21.3;q26.2). (A cytogenetic abnormality that refers to a paracentric inversion involving breakpoints on the long (q23.1 and q26.2) of chromosome 3. It is associated with acute myeloid leukemia.)" "" + "acute myeloid leukemia, t(3;3)(q21.3;q26.2)" "Any acute myeloid leukemia that has the chromosomal anomaly t(3;3)(q21.3;q26.2). (A cytogenetic abnormality that refers to the translocation where both breakpoints are on the long arm (q23.1 and q26.2) of chromosome 3. It is associated with acute myeloid leukemia.)" "" + "acute myeloid leukemia, t(3;12)(q23;p12.3)" "Any acute myeloid leukemia that has the chromosomal anomaly t(3;12)(q23;p12.3). (A cytogenetic abnormality that refers to the translocation of the long arm (q23) of chromosome 3 and the short arm (p12.3) of chromosome 12. It is associated with ETV6/MECOM (EVI1) fusions, myeloproliferative disorders, myelodysplastic syndromes and acute myelogenous leukemia.)" "" + "acute myeloid leukemia, del(5q31-q32)" "Any acute myeloid leukemia that has the chromosomal anomaly del(5q31-q32). (A cytogenetic abnormality that refers to deletion of chromosome bands 31-32 on the long arm of chromosome 5.)" "" + "acute myeloid leukemia, del(13q14-q21)" "Any acute myeloid leukemia that has the chromosomal anomaly del(13q14-q21). (A cytogenetic abnormality that refers to deletion of chromosome bands 14-21 on the long arm of chromosome 13.)" "" + "acute myeloid leukemia, loss of chromosome 17p" "Any acute myeloid leukemia that has the chromosomal anomaly loss of chromosome 17p. (A cytogenetic abnormality that refers to the loss of all or part of the short arm of chromosome 17 (17p).)" "" + "acute myeloid leukemia, MLL gene rearrangement" "Any acute myeloid leukemia that has the chromosomal anomaly MLL gene rearrangement. (A molecular abnormality indicating rearrangement of the MLL (KMT2A) gene.)" "" + "acute myeloid leukemia, Non-KMT2A MLLT10 rearrangement positive" "Any acute myeloid leukemia that has the chromosomal anomaly Non-KMT2A MLLT10 rearrangement positive. (An indication that a cytogenetic rearrangement involving MLLT10 but not involving KMT2A was detected in a sample.)" "" + "acute myeloid leukemia, inv(16)(p13.3;q24.3)" "Any acute myeloid leukemia that has the chromosomal anomaly inv(16)(p13.3;q24.3). (A pericentric chromosomal inversion that involves chromosome 16. It is associated with CBFA2T3/GLIS2 fusions and pediatric acute megakaryoblastic leukemia.)" "" + "acute myeloid leukemia, t(11;15)(p15;q35)" "Any acute myeloid leukemia that has the chromosomal anomaly t(11;15)(p15;q35). (A cytogenetic abnormality that refers to the translocation of chromosome 11p15 with chromosome 15q35. It results in the formation of NUP98/JARID1A fusion gene. It is associated with the development of acute myeloid leukemia with t(11;15)(p15;q35); NUP98-JARID1A.)" "" + "acute myeloid leukemia, t(16;21)(q24;q22)" "Any acute myeloid leukemia that has the chromosomal anomaly t(16;21)(q24;q22). (A cytogenetic abnormality that refers to the translocation of the long arm (q24) of chromosome 16 and the long arm (q22) of chromosome 22. It is associated with RUNX1/CBFA2T3 fusions, myelodysplastic syndromes and acute myeloid leukemia.)" "" + "acute myeloid leukemia, t(3;5)(q25;q34)" "Any acute myeloid leukemia that has the chromosomal anomaly t(3;5)(q25;q34). (A cytogenetic abnormality that refers to the translocation of the long arm (q25) of chromosome 3 and the long arm (q34) of chromosome 5. It is associated with the development of acute myeloid leukemia arising from myelodysplastic syndrome, acute myeloid leukemia with multilineage dysplasia, and acute myeloid leukemia with myelodysplasia-related changes.)" "" + "acute myeloid leukemia, t(16;21)(p11;q22)" "Any acute myeloid leukemia that has the chromosomal anomaly t(16;21)(p11;q22). (A chromosomal translocation involving the FUS gene on chromosome 16p11 and the ERG gene on chromosome 21q22.)" "" + "obsolete acute myeloid leukemia, NPM1 gene mutation" "" "true" + "acute myeloid leukemia, monoallelic CEBPA gene mutation" "Any acute myeloid leukemia that has the chromosomal anomaly monoallelic CEBPA gene mutation. (The presence of mutations in only one allele of the CEBPA gene.)" "" + "acute myeloid leukemia, biallelic CEBPA gene mutation" "Any acute myeloid leukemia that has the chromosomal anomaly biallelic CEBPA gene mutation. (The presence of mutations in both alleles of the CEBPA gene.)" "" + "acute myeloid leukemia, CEBPA gene mutation" "Any acute myeloid leukemia that has the chromosomal anomaly CEBPA gene mutation. (Mutation of the CEBPA gene encoding CCAAT/enhancer binding protein alpha. It is seen in acute myeloid leukemias usually associated with a normal karyotype.)" "" + "acute myeloid leukemia, FLT3 internal tandem duplication" "Any acute myeloid leukemia that has the chromosomal anomaly FLT3 internal tandem duplication. (A genetic abnormality that arises from duplications of the juxtamembrane portion of the gene and results in constitutive activation of the FLT3 receptor tyrosine kinase protein in early hematopoietic progenitor cells. It is associated with acute myelogenous leukemia where it appears to correlate with a poor prognosis.)" "" + "acute myeloid leukemia, FLT3 tyrosine kinase domain point mutation" "Any acute myeloid leukemia that has the chromosomal anomaly FLT3 tyrosine kinase domain point mutation. (Single nucleotide mutations in the tyrosine kinase domain encoded by the human FLT3 gene that are associated with acute myeloid leukemia and poor prognosis.)" "" + "acute myeloid leukemia, WT1 gene mutation" "Any acute myeloid leukemia that has the chromosomal anomaly WT1 gene mutation. (A change in the nucleotide sequence of the WT1 gene.)" "" + "acute myeloid leukemia, KIT exon 17 mutation" "Any acute myeloid leukemia that has the chromosomal anomaly KIT exon 17 mutation. (A molecular genetic abnormality indicating the presence of a mutation in exon 17 of the KIT gene located within 4q11-q12.)" "" + "acute myeloid leukemia, KIT exon 8 mutation" "Any acute myeloid leukemia that has the chromosomal anomaly KIT exon 8 mutation. (A molecular genetic abnormality indicating the presence of a mutation in exon 8 of the KIT gene located within 4q11-q12.)" "" + "acute myeloid leukemia, KIT gene mutation" "Any acute myeloid leukemia that has the chromosomal anomaly KIT gene mutation. (A molecular genetic abnormality that refers to mutation of the c-kit (CD117) proto-oncogene. It is associated with the development of gastrointestinal stromal tumor and gastrointestinal autonomic nerve tumor. It has also been described in acute myeloid leukemias, dysgerminomas, and seminomas.)" "" + "acute myeloid leukemia, GATA1 gene mutation" "Any acute myeloid leukemia that has the chromosomal anomaly GATA1 gene mutation. (A change in the nucleotide sequence of the GATA1 gene.)" "" + "acute myeloid leukemia, RUNX1 gene mutation" "Any acute myeloid leukemia that has the chromosomal anomaly RUNX1 gene mutation. (A change in the nucleotide sequence of the RUNX1 gene.)" "" + "acute myeloid leukemia, PTPN11 gene mutation" "Any acute myeloid leukemia that has the chromosomal anomaly PTPN11 gene mutation. (Mutation of the protein tyrosine phosphatase, non-receptor type 11 gene. It is seen in cases of juvenile myelomonocytic leukemia.)" "" + "acute myeloid leukemia, NRAS gene mutation" "Any acute myeloid leukemia that has the chromosomal anomaly NRAS gene mutation. (A change in the structure of the NRAS gene.)" "" + "acute myeloid leukemia, KRAS gene mutation" "Any acute myeloid leukemia that has the chromosomal anomaly KRAS gene mutation. (A change in the nucleotide sequence of the KRAS gene.)" "" + "non-iatrogenic" "A characteristic of a diseae in which it does not result from diagnostic and therapeutic procedures undertaken on a patient." "" + "progressive bulbar palsy of childhood" "A progressive bulbar palsy of childhood that occurs during childhood." "" + "fibrotic liver disease" "A liver disease characterized by the presence of excessive fibrous connective tissue in the liver." "" + "FNIP1-associated syndrome" "Any immunodeficiency in which the cause of the disease is a mutation in the FNIP1 gene. Disruption of Folliculin Interacting Protein 1 alters the essential metabolic regulators AMPK and mTOR, resulting in profound B-cell deficiency, hypertrophic cardiomyopathy, and pre-excitation syndrome." "" + "ACTB-associated syndromic thrombocytopenia" "A syndrome associated with developmental delay, mild intellectual disability, microcephaly, and thrombocytopenia with platelet anisotropy and enlarged platelets." "" + "Schwartz-Jampel syndrome type 1" "" + "cataract 2, multiple types" "Any cataract in which the cause of the disease is a mutation in the CRYGC gene." "" + "glycogen storage disease IXa2" "Any glycogen storage disease in which the cause of the disease is a mutation in the PHKA2 gene, with no PHK in liver, but normal activity in erythrocytes." "" + "neonatal encephalopathy with non-epileptic myoclonus" "A disorder characterized onset at birth of profound encephalopathy with hypotonia, Respiratory insufficiency central hypoventilation, a persistent suppression burst pattern of EEG background, and recurrent bouts of myoclonus that are not accompanied by epileptic discharges on electroencephalography. Evolution to pharmacoresistant seizures is common and continued profound global developmental delay." "" + "achalasia, familial esophageal" "An instance of achalsia that is caused by an inherited genomic modification in an individual." "" + "gastrointestinal defects and immunodeficiency syndrome" "A rare genetic disease characterized by multiple intestinal atresia in association with combined immunodeficiency and inflammatory bowel disease. Clinical features include widespread atresia extending from the stomach to the rectum, homogenous calcifications in the abdominal cavity, hepatic cholestasis, cirrhosis, and chronic liver failure, hypoplastic thymus, and increased susceptibility to mainly bacteria and viruses. The immunological phenotype consists of profound generalized T-cell lymphopenia and milder natural killer cell and B-cell lymphopenia, as well as low serum levels of IgG, IgA, and IgM, with elevated serum IgE. The disease is mostly fatal in infancy or childhood." "" + "short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans" "A rare genetic skeletal disorder characterized clinically by abnormal chondro-skeletal development, disproportionate short stature and skeletal deformation mainly affecting the knees, hips, ankles and elbows with onset generally in late childhood or adolescence." "" + "butterfly-shaped pigment dystrophy" "A patterned dystrophy of the retinal pigment epithelium characterized by abnormal accumulation of lipofuscin in a butterfly-shaped distribution at the retinal pigment epithelium level. Patients manifest with a slowly progressive loss of vision that often only becomes apparent in old age." "" + "preeclampsia/eclampsia 1" "" + "Batten-Turner congenital myopathy" "A congenital myopathy described by Batten (1910) and later Turner (1949) and Turner and Lees (1962) in which a family of 6 siblings presented in infancy the picture of 'amyotonia congenita' and later in life a nonprogressive myopathy." "" + "anosmia, isolated congenital, X-linked" "X-linked form of anosmia, isolated congenital." "" + "reactive airway disease" "Coughing, wheezing, or shortness of breath that is triggered by allergens, infection, or other irritants." "" + "vitamin D deficiency" "Abnormally low level of 25-hydroxyvitamin D in the blood." "" + "mild ichthyosis vulgaris" "An instance of ichthyosis vulgaris in which the disease presentation is mild in severity. Heterozygote FLG mutation carriers often have mild manifestations." "" + "severe ichthyosis vulgaris" "An instance of ichthyosis vulgaris in which the disease presentation is severe in severity. Homozygous FLG mutation carriers often have more severe manifestations." "" + "lipodystrophy, partial, acquired, susceptibility to" "An inherited susceptibility or predisposition to developing aquired partial lipodystrophy." "" + "rifampicin-resistant tuberculosis" "A form of drug-resistant tuberculosis that is resisant to rifampicin with or without resistance to other antitubercular medications." "" + "autoimmune primary adrenal insufficiency" "Diminished production of adrenocortical hormones due to autoimmune destruction of the adrenal glands." "" + "active tuberculosis" "Tuberculosis caused by primary infection of or reactivation of latent Mycobacterium tuberculosis. Active tuberculosis characterized by clinical manifestation and active symptoms compatible with tuberculosis, and is distinct from latent tuberculosis infection that occurs without signs or symptoms of active disease." "" + "extensively drug-resistant tuberculosis" "A type of drug-resistant tuberculosis that is resistant to any fluoroquinolone, and at least one of three second-line injectable drugs (capreomycin, kanamycin, and amikacin), in addition to resistance to rifampicin and isoniazid." "" + "totally drug-resistant tuberculosis" "A type of drug-resistant tuberculosis that is resistant to all first- and second-line antitubercular drugs tested (isoniazid, rifampicin, streptomycin, ethambutol, pyrazinamide, ethionamide, para-aminosalicylic acid, cycloserine, ofloxacin, amikacin, ciprofloxacin, capreomycin, kanamycin)." "" + "uterine ligament adenosarcoma" "An extremely rare adenosarcoma that arises from the uterine ligament." "" + "obsolete chromate resistance" "" "true" + "SSR3-CDG" "A congenital disorder of glycosylation with a SSR3 deficiency that affects the brain, lungs and gastrointestinal system, and presents with clinical phenotypes such as seizures, intellectual disability, developmental delay, microcephaly and abnormal brain structure." "" + "small intestinal bacterial overgrowth" "The presence of excessive bacteria in the small intestine that can result from result from failure of the gastric acid barrier, failure of small intestinal motility, anatomic alterations, or impairment of systemic and local immunity." "" + "calcium-alkali syndrome" "The ingestion of excessive calcium supplementation or calcium containing antacids, and alkali resulting in a triad of hypercalcemia, metabolic alkalosis, and renal insufficiency." "" + "skeletal fluorosis" "A condition that results from excessive fluoride ingestion leading to fluoride accumulation in the bone progressively over many years. The early symptoms of skeletal fluorosis, include stiffness and pain in the joints. In severe cases, the bone structure may change and ligaments may calcify, with resulting impairment of muscles and pain." "" + "phrynoderma" "Phrynoderma is a form of follicular hyperkeratosis seen in young children and adolescents due to nutritional deficiencies. It is clinically characterized by discrete, follicular, skin-colored papules with keratotic plugs distributed over elbows, knees, extensor extremities, and buttocks." "" + "refeeding syndrome" "Potentially fatal shifts in fluids and electrolytes that may occur in malnourished patients receiving artificial refeeding (whether enterally or parenterally)." "" + "botryomycosis" "A rare chronic suppurative bacterial infection involving mostly subcutaneous tissues and less frequently other organs. Botryomycosis is mostly caused by Staphylococcus aureus, Escherichia coli and Pseudomonas aeruginosa but the exact pathogenesis remains uncertain. Treatment often requires a combination of both surgical debridement and long-term antimicrobial therapy." "" + "episodic angioedema with eosinophilia" "A disorder characterized by episodes of swelling under the skin (angioedema) and an elevated number of the white blood cells known as eosinophils (eosinophilia). During these episodes, symptoms of hives (urticaria), fever, swelling, weight gain and eosinophilia may occur. Symptoms usually appear every 3-4 weeks and resolve on their own within several days. Other cells may be elevated during the episodes, such as neutrophils and lymphocytes. Although the syndrome is often considered a subtype of the idiopathic hypereosinophilic syndromes, it does not typically have organ involvement or lead to other health concerns." "" + "acute fibrinous and organizing pneumonia" "A rare pulmonary disease with histological pattern of interstitial pneumonitis characterized by the deposit of intra-alveolar fibrin and diffuse organizing pneumonia within the alveolar ducts and bronchioles, with large etiological spectra." "" + "SEC61B-related polycystic liver disease" "Any autosomal dominant polycystic liver disease in which the cause of the disease is a mutation in the SEC61B gene." "" + "venom allergy" "An allergic disease involving venom." "" + "cytokine release syndrome" "A syndrome that occurs after therapeutic infusion of antibodies into the blood and is characterized by nausea, headache, tachycardia, hypotension, rash, and shortness of breath. It is caused by the release of cytokines from the cells that are targeted by the antibodies. Most patients experience a mild to moderate reaction; however, the reaction may be severe and life-threatening." "" + "severe hypophosphatasia" "Severe hypophosphatasia is a rare, severe form of hypophosphatasia characterized by infantile rickets without elevated serum alkaline phosphatase (ALP) activity and a wide range of clinical manifestations due to hypomineralization. Individuals often present with these features in infancy or in the perinatal period." "" + "moderate hypophosphatasia" "Moderate hypophosphatasia is a rare, moderate form of hypophosphatasia characterized by defective mineralization of bone and/or teeth, premature loss of teeth with intact roots, and reduced serum alkaline phosphatase (ALP) activity. Individuals can present with this form of hypophosphatasia in infancy, childhood, or adulthood." "" + "mild hypophosphatasia" "Mild hypophosphatasia is the most common form of hypophosphatasia characterized by low alkaline phosphatase, unspecific clinical signs, and typically presents in individuals in adulthood." "" + "alveolar capillary dysplasia without misalignment of pulmonary veins" "A rare form of interstitial and vascular lung disease that presents as severe pulmonary hypertension and refractory hypoxemia early in life that is characterized by a lack of misalignment of the pulmonary veins." "" + "acinar dysplasia" "A lethal, developmental lung malformation resulting in neonatal respiratory insufficiency. It is characterized by pulmonary hypoplasia and arrest in the pseudoglandular stage of development, resulting in the absence of functional gas exchange. It can be caused by mutations in FGF10, FGFR2 or TBX4." "" + "acinar dysplasia caused by mutation in FGF10" "Any acinar dysplasia in which the cause of the disease is a mutation in the FGF10 gene." "" + "acinar dysplasia caused by mutation in FGFR2" "Any acinar dysplasia in which the cause of the disease is a mutation in the FGFR2 gene." "" + "acinar dysplasia caused by mutation in TBX4" "Any acinar dysplasia in which the cause of the disease is a mutation in the TBX4 gene." "" + "familial idiopathic inflammatory myopathy" "An instance of myositis that is caused by an inherited genomic modification in an individual, and has an unknown cause." "" + "hydrosalpinx" "Fluid accumulation and dilatation of the fallopian tube due to tubal blockage." "" + "vanishing lung syndrome" "A rare form of irreversible damage to the pulmonary parenchyma often due to chronic obstructive pulmonary disease (COPD). It is associated with a spectrum of clinical manifestations, including worsening dyspnea, cough, declining pulmonary function, and occasionally spontaneous pneumothorax due to ruptured bullae." "" + "congenital right-sided heart lesions" "Serious heritable structural anomalies of the right side of the heart, including pulmonary atresia, tricuspid valve disease and Ebstein's anomaly, and right ventricular outflow tract obstruction and/or pulmonary stenosis, that are present from birth." "" + "restrictive pulmonary disease" "Decreased lung volume and inadequate ventilation due to parenchymal lung disorders (e.g., interstitial pulmonary fibrosis) or extrapulmonary disorders (e.g., scoliosis). Patients present with shortness of breath and cough." "" + "B-cell acute lymphoblastic leukemia with t(1;19)(q23;p13.3); E2A-PBX1 (TCF3-PBX1)" "A B-cell acute leukemia characterized by the presence of lymphoblasts that carry a translocation between the E2A gene on chromosome 19 and the PBX1 gene on chromosome 1. It occurs in children and less often in adults." "" + "ALG9-associated autosomal dominant polycystic kidney disease" "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the ALG9 gene." "" + "shrinking lung syndrome" "A rare pulmonary complication of an underlying autoimmune disorder that is reported in association with systemic lupus erythematosus (SLE). Reduced lung volumes result in restrictive ventilatory defect and a preserved carbon monoxide transfer coefficient." "" + "idiopathic vs non-idiopathic" "A disease characteristic in which the cause of the disease is known or unknown." "" + "non-idiopathic" "A disease characteristic in which the disease has a known cause." "" + "complete trisomy 21" "Trisomy 21 characterized by the presence of an extra chromosome 21 in all the cells of the organism." "" + "trisomy 21" "A chromosomal disorder consisting of the presence of an extra chromosome 21." "" + "complete" "A disease characteristic in which the cause of the disease is present in all the cells of the organism." "" + "mosaic trisomy 18" "Trisomy 18 in which the presence of an extra copy of chromosome 18 is present only in some of the cells of the organism." "" + "complete trisomy 18" "Trisomy 18 in which the presence of an extra copy of chromosome 18 is present in all the cells of the organism." "" + "complete trisomy 13" "Trisomy 13 in which the presence of an extra copy of chromosome 13 is present in all the cells of the organism." "" + "mosaic trisomy 13" "Trisomy 13 in which the presence of an extra copy of chromosome 13 is present only in some of the cells of the organism." "" + "monosomy chromosome 8" "A chromosomal disorder consisting of the absence of one chromosome 8." "" + "testicular fibrothecoma" "A rare testicular sex cord-stromal neoplasm characterized by mixed features of both fibroma and thecoma." "" + "leukemia, acute, X-linked" "X-linked form of acute leukemia" "" + "mosaic vs complete" "A disease characteristic in which the cause of the disease is present in some of the cells of the organism, or in all the cells of the organism." "" + "myopathy caused by variation in POMGNT2" "Any myopathy in which the cause of the disease is a variation in the POMGNT2 gene." "" + "Usher syndrome type 1B" "Usher syndrome in which the cause of the disease is a mutation in the MYO7A gene" "" + "paroxysmal nonkinesigenic dyskinesia 1" "Paroxysmal nonkinesigenic dyskinesia in which the cause of the disease is a mutation in the PNKD gene." "" + "epilepsy, familial temporal lobe, 1" "An autosomal dominant condition caused by mutation(s) in the LGI1 gene, encoding leucine-rich glioma-inactivated protein 1. It is characterized by partial seizures originating in the temporal lobe and often accompanied by auditory sensory manifestations." "" + "chromosome 19q13.11 deletion syndrome, distal" "Chromosome 19q13.11 deletion syndrome in which the distal region was deleted." "" + "proximal chromosome 18q deletion syndrome" "Chromosome abnormality that occurs when there is a missing (deleted) copy of genetic material from the part of the long (q) arm near the center of chromosome 18." "" + "distal chromosome 18q deletion syndrome" "Distal chromosome 18q deletion syndrome is a chromosome abnormality that occurs when there is a missing (deleted) copy of genetic material at the end of the long arm (q) of chromosome 18." "" + "ACTL6A-related BAFopathy" "Any BAFopathy in which the cause of the disease is a mutation in the ACTL6A gene." "" + "PBRM1-related BAFopathy" "Any BAFopathy in which the cause of the disease is a mutation in the PBRM1 gene." "" + "SMARCC1-related BAFopathy" "Any BAFopathy in which the cause of the disease is a mutation in the SMARCC1 gene." "" + "mosaic trisomy 21" "Trisomy 21 characterized by the presence of an extra chromosome 21 in some of the cells of the organism." "" + "translocation Down syndrome" "Down syndrome in which the extra (partial or total) copy of chromosome 21 is attached to another chromosome." "" + "mosaic translocation Down syndrome" "Translocation Down syndrome in which the extra (partial or total) copy of chromosome 21 attached to another chromosome is present in some of the cells of the organism." "" + "partial Trisomy 21" "A chromosomal disorder consisting of the partial duplication of chromosome 21." "" + "delayed sleep phase syndrome, susceptibility to" "An inherited susceptibility or predisposition to developing delayed sleep phase syndrome." "" + "infectious discitis" "An infection of the intervertebral disc space." "" + "staphylococcus discitis" "Discitis caused by infection with Staphylococcus." "" + "escherichia coli discitis" "Discitis caused by infection with Escherichia coli." "" + "streptococcus pneumoniae discitis" "Discitis caused by infection with Streptococcus pneumoniae." "" + "salmonella discitis" "Discitis caused by infection with Salmonella." "" + "fungal discitis" "Discitis caused by infection with fungi." "" + "WHIM syndrome 1" "A congenital autosomal dominant immune deficiency characterized by abnormal retention of mature neutrophils in the bone marrow (myelokathexis) and occasional hypogammaglobulinemia, associated with an increased risk for bacterial infections and a susceptibility to human papillomavirus (HPV) induced lesions (cutaneous warts, genital dysplasia and invasive mucosal carcinoma)." "" + "Martsolf syndrome 1" "This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism." "" + "visceral neuropathy, familial, 1, autosomal recessive" "A form of chronic intestinal pseudoobstruction caused by a developmental failure of the enteric neurons to differentiate or migrate properly and manifests as a bowel obstruction." "" + "neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1" "" + "portal hypertension, noncirrhotic, 1" "" + "familial antiphospholipid syndrome" "Autosomal dominant form of antiphospholipid syndrome." "" + "46,XY sex reversal 11" "Any 46,XY complete gonadal dysgenesis in which the cause of the disease is a mutation in the DHX37 gene." "" + "testicular regression syndrome" "A developmental anomaly characterized by the absence of one or both testicles with partial or complete absence of testicular tissue. TRS may vary from normal male with unilateral no-palpable testis through phenotypic male with micropenis, to phenotypic female. The phenotype depends on the extent and timing of the intrauterine accident in relation to sexual development." "" + "benign paroxysmal positional vertigo" "Idiopathic recurrent vertigo associated with positional nystagmus. It is associated with a vestibular loss without other neurological or auditory signs. Unlike in labyrinthitis and vestibular neuronitis inflammation in the ear is not observed." "" + "vertigo, benign recurrent, 1" "" diff --git a/src/ontology/reports/mondo_base_last_release-report.tsv b/src/ontology/reports/mondo_base_last_release-report.tsv new file mode 100644 index 0000000000..2e229bb6dc --- /dev/null +++ b/src/ontology/reports/mondo_base_last_release-report.tsv @@ -0,0 +1,24873 @@ +?mondo_term ?label ?definition ?obsoletion_candidate ?obsolete + "disease or disorder" "A disease is a disposition to undergo pathological processes that exists in an organism because of one or more disorders in that organism." "" + "disease characteristic" "An attribute of a disease." "" + "disease susceptibility" "A constitution or condition of the body which makes the tissues react in special ways to certain extrinsic stimuli and thus tends to make the individual more than usually susceptible to certain diseases." "" + "obsolete 46,XX sex reversal" "" "true" + "obsolete 17-hydroxysteroid dehydrogenase deficiency" "" "true" + "adrenocortical insufficiency" "An endocrine or hormonal disorder that occurs when the adrenal cortex does not produce enough of the hormone cortisol and in some cases, the hormone aldosterone. It may be due to a disorder of the adrenal cortex (Addison's disease or primary adrenal insufficiency) or to inadequate secretion of ACTH by the pituitary gland (secondary adrenal insufficiency)." "" + "adrenal cortex disease" "A disease involving the adrenal cortex." "" + "alopecia, isolated" "" + "genetic alopecia" "An instance of alopecia that is caused by a modification of the individual's genome." "" + "obsolete alopecia-mental retardation syndrome" "" "true" + "obsolete atypical Mycobacteriosis, familial" "" "true" + "obsolete bare lymphocyte syndrome" "" "true" + "inherited bleeding disorder, platelet-type" "" + "hemorrhagic disease" "Spontaneous or near spontaneous bleeding caused by a defect in clotting mechanisms (blood coagulation disorders) or another abnormality causing a structural flaw in the blood vessels (hemostatic disorders)." "" + "inherited" "A characteristic of a disease in which the cause of the disease is a genetic problem inherited from either or both parents." "" + "blood platelet disease" "Disorders caused by abnormalities in platelet count or function." "" + "Mendelian disease" "A disease that is caused by genetic modifications where those modifications are inherited from a parent's genome." "" + "obsolete cerebrooculofacioskeletal syndrome" "" "true" + "obsolete chondrodysplasia" "" "true" + "obsolete choreoathetosis" "" "true" + "obsolete choroidal dystrophy" "" "true" + "colorblindness, partial" "" + "color vision disorder" "The absence of or defect in the perception of colors." "" + "classic complement early component deficiency" "A genetic deficiency of any early component of the classical pathway (C1q, C1r/s, C2, C4, and C3) that is associated with autoimmune diseases due to the failure of clearance of immune complexes (IC) and apoptotic materials, and the impairment of normal humoral response." "" + "complement deficiency" "A genetic deficiency of any of the component of the complement system (including the classical, alternative, and terminal pathway components), that can either be acquired or inherited." "" + "obsolete coronary heart disease" "" "true" + "obsolete deafness, autosomal recessive" "" "true" + "obsolete myotonic dystrophy" "" "true" + "obsolete ectodermal dysplasia" "" "true" + "obsolete elliptocytosis" "" "true" + "obsolete short-rib thoracic dysplasia" "" "true" + "nocturnal enuresis" "Urination during sleep." "" + "enuresis" "An elimination disorder characterized by urinary incontinence, whether involuntary or intentional, which is not due to a medical condition and which occurs at or beyond an age at which continence is expected (usually 5 years)." "" + "infantile liver failure" "" + "genetic parenchymatous liver disease" "" + "obsolete exostoses, multiple" "" "true" + "obsolete familial cold autoinflammatory syndrome" "" "true" + "obsolete Fanconi renotubular syndrome" "" "true" + "obsolete epilepsy, absence" "" "true" + "obsolete epilepsy, hot water" "" "true" + "obsolete corticosterone methyloxidase deficiency" "" "true" + "sleep-related hypermotor epilepsy" "" + "frontal lobe epilepsy" "A localization-related (focal) form of epilepsy characterized by seizures which arise in the frontal lobe. A variety of clinical syndromes exist depending on the exact location of the seizure focus. Frontal lobe seizures may be idiopathic (cryptogenic) or caused by an identifiable disease process such as traumatic injuries, neoplasms, or other macroscopic or microscopic lesions of the frontal lobes (symptomatic frontal lobe seizures). (From Adams et al., Principles of Neurology, 6th ed, pp318-9)" "" + "familial partial epilepsy" "An instance of partial epilepsy that is caused by an inherited modification of the individual's genome." "" + "obsolete fatty liver disease, nonalcoholic" "" "true" + "febrile seizures, familial" "" + "obsolete frontonasal dysplasia" "" "true" + "obsolete glomerulopathy with fibronectin deposits" "" "true" + "obsolete glucocorticoid deficiency" "" "true" + "obsolete hemolytic anemia, nonspherocytic" "" "true" + "obsolete herpes simplex encephalitis, susceptibility" "" "true" + "obsolete hyper-IgE recurrent infection syndrome" "" "true" + "obsolete hypercalciuria, absorptive" "" "true" + "obsolete hyperphenylalaninemia, BH4-deficient" "" "true" + "obsolete hyperphosphatasia with mental retardation syndrome" "" "true" + "obsolete hyperprolinemia" "" "true" + "obsolete hypomagnesemia" "" "true" + "hereditary hypophosphatemic rickets" "Hypophosphatemic rickets is a group of genetic diseases characterized by hypophosphatemia, rickets, and normal serum levels of calcium." "" + "hypophosphatemic rickets" "Rickets due to low serum phosphate concentrations, the cause of which can be nutritional or genetic. This condition is characterized by normal parathyroid hormone concentrations, usually caused by renal phosphate wasting occurring in isolation or as part of a renal tubular disorder, and characterized by resistance to treatment with ultraviolet radiation or vitamin D." "" + "hypothyroidism, congenital, nongoitrous" "" + "congenital hypothyroidism" "Congenital hypothyroidism (CH) is defined as a thyroid hormone deficiency present from birth." "" + "obsolete hypouricemia, renal" "" "true" + "obsolete immunodeficiency with hyper-IgM" "" "true" + "obsolete immunoglobulin A deficiency" "" "true" + "obsolete invasive pneumococcal disease, recurrent isolated" "" "true" + "isolated congenital growth hormone deficiency" "" + "combined pituitary hormone deficiencies, genetic form" "Congenital hypopituitarism is characterized by multiple pituitary hormone deficiency, including somatotroph, thyrotroph, lactotroph, corticotroph or gonadotroph deficiencies, due to mutations of pituitary transcription factors involved in pituitary ontogenesis. Congenital hypopituitarism is rare compared with the high incidence of hypopituitarism induced by pituitary adenomas, transsphenoidal surgery or radiotherapy." "" + "obsolete keratoderma, palmoplantar striate" "" "true" + "obsolete leukodystrophy, hypomyelinating" "" "true" + "obsolete macroglobulinemia, Waldenstrom" "" "true" + "obsolete macular dystrophy" "" "true" + "obsolete major affective disorder" "" "true" + "obsolete mandibuloacral dysplasia with lipodystrophy" "" "true" + "obsolete medullary cystic kidney disease" "" "true" + "obsolete melanoma, cutaneous malignant" "" "true" + "obsolete methylmalonic aciduria and homocystinuria" "" "true" + "microcephalic osteodysplastic primordial dwarfism" "" + "microcephaly" "A congenital or acquired developmental disorder in which the circumference of the head is smaller than normal for the person's age and sex." "" + "obsolete microcephaly, primary, autosomal recessive" "" "true" + "isolated microphthalmia" "A microphthalmia that is not part of a larger syndrome." "" + "microphthalmia" "Congenital or developmental anomaly in which the eyeballs are abnormally small." "" + "has an isolated presentation" "An characteristic of a disease in which the disease is manifested as an isolated feature." "" + "obsolete molybdenum cofactor deficiency" "" "true" + "obsolete syndromic microphthalmia" "" "true" + "microvascular complications of diabetes, susceptibility" "" + "inherited disease susceptibility" "A latent susceptibility to disease at the genetic level, which may be activated under certain conditions." "" + "diabetic retinopathy" "A chronic, pathological complication associated with diabetes mellitus, where retinal damages are incurred due to microaneurysms in the vasculature of the retina, progressively leading to abnormal blood vessel growth, and swelling and leaking of fluid from blood vessels, resulting in vision loss or blindness." "" + "mitochondrial complex deficiency" "" + "inborn mitochondrial metabolism disorder" "Diseases caused by abnormal function of the mitochondria. They may be caused by mutations, acquired or inherited, in mitochondrial dna or in nuclear genes that code for mitochondrial components. They may also be the result of acquired mitochondria dysfunction due to adverse effects of drugs, infections, or other environmental causes." "" + "obsolete mitochondrial DNA depletion syndrome" "" "true" + "obsolete mucolipidosis" "" "true" + "obsolete multiple endocrine neoplasia" "" "true" + "mycobacterium tuberculosis, susceptibility" "" + "tuberculosis" "A chronic, recurrent infection caused by the bacterium Mycobacterium tuberculosis. Tuberculosis (TB) may affect almost any tissue or organ of the body with the lungs being the most common site of infection. The clinical stages of TB are primary or initial infection, latent or dormant infection, and recrudescent or adult-type TB. Ninety to 95% of primary TB infections may go unrecognized. Histopathologically, tissue lesions consist of granulomas which usually undergo central caseation necrosis. Local symptoms of TB vary according to the part affected; acute symptoms include hectic fever, sweats, and emaciation; serious complications include granulomatous erosion of pulmonary bronchi associated with hemoptysis. If untreated, progressive TB may be associated with a high degree of mortality. This infection is frequently observed in immunocompromised individuals with AIDS or a history of illicit IV drug use." "" + "hereditary predisposition to infections" "" + "obsolete myopathy, myofibrillar" "" "true" + "obsolete myopathy, reducing body, X-linked" "" "true" + "obsolete nail disorder, nonsyndromic congenital" "" "true" + "obsolete neurodegeneration with brain iron accumulation" "" "true" + "neuronopathy, distal hereditary motor" "" + "motor neuron disease" "A disease involving the motor neuron." "" + "obsolete neuropathy, hereditary sensory and autonomic" "" "true" + "obsolete nystagmus" "" "true" + "acrocephalopolysyndactyly" "A common presentation of craniosynostosis and polysyndactyly." "" + "acrocephalosyndactyly" "Acrocephalosyndactyly (ACS) syndromes represent a group of inherited congenital malformation disorders characterized by craniosynostosis and fusion or webbing of the fingers or toes, often with other associated manifestations." "" + "nephrolithiasis/osteoporosis, hypophosphatemic" "" + "osteoporosis" "A condition of reduced bone mass, with decreased cortical thickness and a decrease in the number and size of the trabeculae of cancellous bone (but normal chemical composition), resulting in increased fracture incidence. Osteoporosis is classified as primary (Type 1, postmenopausal osteoporosis; Type 2, age-associated osteoporosis; and idiopathic, which can affect juveniles, premenopausal women, and middle-aged men) and secondary osteoporosis (which results from an identifiable cause of bone mass loss)." "" + "obsolete Oto-palato-digital syndrome" "" "true" + "obsolete ovarian dysgenesis" "" "true" + "pelvic organ prolapse" "Abnormal descent of a pelvic organ resulting in the protrusion of the organ beyond its normal anatomical confines. Symptoms often include vaginal discomfort, dyspareunia; urinary stress incontinence; and fecal incontinence." "" + "reproductive system disease" "A disease involving the reproductive system." "" + "obsolete Griscelli syndrome" "" "true" + "obsolete pigmented nodular adrenocortical disease" "" "true" + "obsolete pituitary hormone deficiency, combined" "" "true" + "obsolete polydactyly, preaxial" "" "true" + "polymicrogyria" "A developmental brain abnormality characterized by an excessive amount of small convolutions on the surface of the brain and cognitive dysfunction." "" + "syndromic intellectual disability" "A intellectual disability that is part of a larger syndrome." "" + "congenital nervous system disorder" "An abnormality of the nervous system that is present at birth or detected in the neonatal period." "" + "cerebral malformation due to abnormal neuronal migration" "True" + "precocious puberty" "Unusually early sexual maturity." "" + "gonadal disease" "A non-neoplastic or neoplastic disorder that affects the testis or the ovary." "" + "disorder of development or morphogenesis" "Any disease or disorder that disrupts the process development of an anatomical structure. Can be due to genetic or environmental causes. Typically happens during embryogenesis, but also includes post-embryonic development." "" + "obsolete rare endocrine growth disease" "True" "true" + "obsolete age-related hearing impairment" "" "true" + "progressive external ophthalmoplegia with mitochondrial DNA deletions" "" + "progressive external ophthalmoplegia" "A mitochondrial myopathy characterized by slowly progressive paralysis of the levator palpebrae, orbicularis oculi, and extraocular muscles. Ragged-red fibers and atrophy are found on muscle biopsy. Familial and sporadic forms may occur. Disease onset is usually in the first or second decade of life, and the illness slowly progresses until usually all ocular motility is lost. (From Adams et al., Principles of Neurology, 6th ed, p1422)" "" + "obsolete progressive familial heart block" "" "true" + "obsolete pyloric stenosis, infantile" "" "true" + "Schistosoma mansoni infection, susceptibility" "" + "Schistosoma mansoni infectious disease" "An infection that is caused by Schistosoma mansoni." "" + "obsolete spherocytosis" "" "true" + "obsolete split-hand/foot malformation" "" "true" + "obsolete pulmonary surfactant metabolism dysfunction" "" "true" + "obsolete thyroid dyshormonogenesis" "" "true" + "obsolete thyrotoxic periodic paralysis" "" "true" + "obsolete trichoepithelioma, multiple familial" "" "true" + "obsolete trichorhinophalangeal syndrome" "" "true" + "obsolete tumoral calcinosis" "" "true" + "obsolete vertigo" "" "true" + "obsolete Wilms tumor" "" "true" + "anemia, hypochromic microcytic with iron overload" "" + "hypochromic microcytic anemia" "Anemia in which the circulating RBCs are smaller than the usual size of RBCs (microcytic) and have decreased red color (hypochromic)." "" + "anemia, nonspherocytic hemolytic" "" + "congenital nonspherocytic hemolytic anemia" "Any one of a group of congenital hemolytic anemias in which there is no abnormal hemoglobin or spherocytosis and in which there is a defect of glycolysis in the erythrocyte. Common causes include deficiencies in glucose-6-phosphate isomerase; pyruvate kinase; and glucose-6-phosphate dehydrogenase." "" + "obsolete apnea" "" "true" + "auriculocondylar syndrome" "Auriculo-condylar syndrome (ACS) presents with bilateral external ear malformations ('question mark' ears), mandibular condyle hypoplasia, microstomia, micrognathia, microglossia and facial asymmetry. Additional manifestations include hypotonia, ptosis, cleft palate, puffy cheeks, developmental delay, impaired hearing and respiratory distress." "" + "ear malformation" "" + "oculo-auriculo-vertebral spectrum" "" + "bacteremia, susceptibility" "" + "bacterial infectious disease with sepsis" "An infectious disease caused by bacteria causing sepsis." "" + "obsolete basal ganglia calcification, idiopathic" "" "true" + "bifid nose" "Bifid nose is a rare congenital malformation of presumed autosomal dominant or recessive inheritance characterized by clefting of the nose ranging from a minimally noticeable groove in the columella to complete clefting of the underlying bones and cartilage (resulting in two half noses) with a usually adequate airway. Bifid nose may be seen in frontonasal dysplasia while other malformations such as hypertelorbitism and midline clefts of the lip may also be associated." "" + "median facial cleft" "" + "nose and cavum anomaly" "" + "genetic otorhinolaryngological malformation" "" + "camptodactyly syndrome, Guadalajara" "" + "obsolete cardioencephalomyopathy, fatal infantile" "" "true" + "obsolete cerebellar ataxia, mental retardation, and dysequilibrium syndrome" "" "true" + "cerebelloparenchymal disorder" "" + "Chiari malformation" "A rare genetic brain malformation characterized by displacement of the brain stem and cerebellum through the foramen magnum. It may result in hydrocephalus." "" + "obsolete cortical dysplasia, complex, with other brain malformations" "" "true" + "obsolete diarrhea, congenital" "" "true" + "reticulate pigment disorder" "" + "pigmentation disease" "" + "congenital heart defects, multiple types" "" + "congenital heart disease" "A heart disease that is present at birth. Representative examples include atrial septal defect, ventricular septal defect, tetralogy of Fallot, and patent foramen ovale." "" + "obsolete ectopia lentis, isolated" "" "true" + "obsolete emphysema" "" "true" + "obsolete facial paresis, hereditary congenital" "" "true" + "obsolete factor V and Factor VIII, combined deficiency of" "" "true" + "obsolete focal facial dermal dysplasia" "" "true" + "obsolete fundus dystrophy, pseudoinflammatory" "" "true" + "obsolete gastric cancer" "" "true" + "geleophysic dysplasia" "Geleophysic dysplasia is a rare skeletal dysplasia characterized by short stature, prominent abnormalities in hands and feet, and a characteristic facial appearance (described as \"happy'')." "" + "acromelic dysplasia" "" + "giant axonal neuropathy" "A rare inherited disorder affecting the neurofilaments. It is caused by mutations in the GAN gene. It is characterized by the presence of abnormally large nerve cell axons. Signs and symptoms include difficulty walking, sensory disturbances, lack of motor coordination and abnormal reflexes in the limbs." "" + "axonal neuropathy" "Any nerve disorder affecting the axon of a nerve." "" + "genetic peripheral neuropathy" "Genetic peripheral neuropathy." "" + "glutaric aciduria" "" + "metabolic disease" "A congenital disorder (due to inherited enzyme abnormality) or acquired (due to failure of a metabolically important organ) disorder resulting from an abnormal metabolic process." "" + "obsolete hypercarotenemia and vitamin a deficiency" "" "true" + "obsolete hyperpigmentation, familial progressive" "" "true" + "obsolete hypocalcemia" "" "true" + "immunodeficiency-centromeric instability-facial anomalies syndrome" "The Immunodeficiency, Centromeric region instability, Facial anomalies syndrome (ICF) is a rare autosomal recessive disease characterized by immunodeficiency, although B cells are present, and by characteristic rearrangements in the vicinity of the centromeres (the juxtacentromeric heterochromatin) of chromosomes 1 and 16 and sometimes 9." "" + "autosomal recessive disease" "Autosomal recessive form of disease." "" + "telomere syndrome" "Accelerated aging syndromes often caused by inheritable gene mutations resulting in decreased telomere lengths." "" + "obsolete inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia" "" "true" + "obsolete Kenny-Caffey syndrome" "" "true" + "keratosis follicularis spinulosa decalvans" "Keratosis follicularis spinulosa decalvans is a rare genodermatosis occurring during infancy or childhood, predominantly affecting males, and characterized by diffuse follicular hyperkeratosis associated with progressive cicatricial alopecia of the scalp, eyebrows and eyelashes. Additional findings can include photophobia, corneal dystrophy, facial erythema, and/or palmoplantar keratoderma." "" + "folliculitis" "Inflammation of the hair follicles. Causes include excessive perspiration, skin infections, and skin wounds." "" + "keratosis" "A skin disorder consisting of hypertrophy of the stratum corneum of the skin." "" + "keratosis pilaris atrophicans" "An uncommon form of keratosis pilaris in which there are scar-like follicular depressions and loss of hair." "" + "secondary ectropion" "" + "leukoencephalopathy, megalencephalic" "" + "brain disease" "A disease affecting the brain or part of the brain." "" + "genetic nervous system disorder" "An instance of nervous system disease that is caused by a modification of the individual's genome." "" + "metaphyseal chondrodysplasia" "" + "Pyle disease" "Pyle disease is a bone dysplasia characterised by genu valgum, metaphyseal anomalies with broadening of the long bones extending into the diaphyses and giving the femora and tibiae an 'Erlenmeyer flask'' appearance, widening of the ribs and clavicles, platyspondyly and cortical thinning." "" + "obsolete microcephalic primordial dwarfism" "" "true" + "" "true" + "familial congenital mirror movements" "Congenital mirror movement disorder is a condition in which intentional movements of one side of the body are mirrored by involuntary movements of the other side. For example, when an affected individual makes a fist with the right hand, the left hand makes a similar movement. The mirror movements in this disorder primarily involve the upper limbs, especially the hands and fingers. This pattern of movements is present from infancy or early childhood and usually persists throughout life, without other associated signs and symptoms. Intelligence and lifespan are not affected." "" + "mosaic variegated aneuploidy syndrome" "Mosaic variegated aneuploidy (MVA) syndrome is a chromosomal anomaly characterized by multiple mosaic aneuploidies that leads to a variety of phenotypic abnormalities and cancer predisposition." "" + "polymalformative genetic syndrome with increased risk of developing cancer" "Polymalformative genetic syndrome with increased risk of developing cancer (PGSIRC) comprises a wide range of syndromes characterized by congenital malformations with a high risk of developing tumors including up to 50 different rare diseases." "True" + "chromosomal disorder" "Clinical conditions caused by an abnormal chromosome constitution in which there is extra or missing chromosome material (either a whole chromosome or a chromosome segment). (from Thompson et al., Genetics in Medicine, 5th ed, p429)" "" + "neoplastic syndrome" "A broad classification for disorders in which the development of neoplasms typically occur in association with a characteristic set of signs or symptoms. These disorders may be inherited or acquired." "" + "mosaic" "A disease characteristic in which the cause of the disease is present in some of the cells of the organism." "" + "obsolete multiple congenital anomalies-hypotonia-seizures syndrome" "" "true" + "obsolete multiple mitochondrial dysfunctions syndrome" "" "true" + "pregnancy loss, recurrent, susceptibility" "" + "obsolete premature aging syndrome" "" "true" + "obsolete progeroid syndrome" "" "true" + "polyposis" "" + "neoplastic polyp" "" + "pulmonary fibrosis and/or bone marrow failure, telomere-related" "" + "pulmonary fibrosis" "Chronic progressive interstitial lung disorder characterized by the replacement of the lung tissue by connective tissue, leading to progressive dyspnea, respiratory failure, or right heart failure. Causes include chronic inflammatory processes, exposure to environmental irritants, radiation therapy, autoimmune disorders, certain drugs, or it may be idiopathic (no identifiable cause)." "" + "bone marrow disease" "Any disease of the bone marrow." "" + "obsolete retinopathy" "" "true" + "obsolete spondylometaphyseal dysplasia" "" "true" + "symphalangism" "" + "skeletal system disease" "A disease involving the skeletal system." "" + "thiamine-responsive dysfunction syndrome" "" + "disorder of thiamine metabolism and transport" "" + "transposition of the great arteries" "A congenital cardiac defect in which two heart vessels are reversed (transposed)." "" + "transposition of the great arteries and conotruncal cardiac anomaly" "" + "obsolete Trichohepatoenteric syndrome" "" "true" + "triglyceride storage disease" "An acquired metabolic disease that is has its basis in the disruption of sequestering of triglyceride." "" + "inborn errors of metabolism" "An inherited disorder resulting from an enzyme defect in biochemical and metabolic pathways affecting proteins, fats, carbohydrates metabolism or organelle function." "" + "lysosomal lipid storage disorder" "An inherited metabolic disorder in which harmful amounts of lipids accumulate in cells and tissues. Because of a functionally impaired hydrolase or auxiliary protein, their lipid substrates cannot be degraded, accumulate in the lysosome, and slowly spread to other intracellular membranes." "" + "trigonocephaly" "" + "dysostosis" "A disorder of the development of bone in which ossification is affected." "" + "obsolete episodic pain syndrome, familial" "" "true" + "developmental dysplasia of the hip" "A spectrum of hip abnormalities commonly presenting in infancy involving the relationship between the femoral head and the acetabulum and that includes subluxation or dislocation at rest or upon provocation." "" + "bone development disease" "A disease involving the bone development." "" + "bone marrow failure syndrome" "" + "epilepsy, familial adult myoclonic" "" + "early myoclonic encephalopathy" "Early myoclonic encephalopathy (EME) is characterized clinically by the onset of fragmentary myoclonus appearing in the first month of life, often associated with erratic focal seizures and a suppression-burst EEG pattern." "" + "obsolete adrenal hyperplasia" "" "true" + "autoimmune thyroid disease, susceptibility to" "" + "autoimmune thyroid disease" "Inflammatory disease of the thyroid gland due to autoimmune responses leading to lymphocytic infiltration of the gland. It is characterized by the presence of circulating thyroid antigen-specific T-cells and thyroid autoantibodies. The clinical signs can range from hypothyroidism to thyrotoxicosis depending on the type of autoimmune thyroiditis." "" + "Hashimoto thyroiditis" "An autoimmune disorder caused by the production of autoantibodies against thyroid tissue. There is progressive destruction of the thyroid follicles leading to hypothyroidism." "" + "obsolete breast-ovarian cancer, familial, susceptibility to" "" "true" + "obsolete corneal dystrophy, Fuchs endothelial" "" "true" + "obsolete ectodermal dysplasia-syndactyly syndrome" "" "true" + "encephalopathy, acute, infection-induced" "" + "acute disease" "Disease having a short and relatively severe course." "" + "post-infectious disorder" "A disorder that follows infection but is distinct from the infection itself and its usual manifestations." "" + "Huntington disease and related disorders" "A grouping for Huntington disease and similar diseases." "" + "inherited neurodegenerative disorder" "An inherited disorder characterized by progressive degeneration and atrophy of the nervous system." "" + "obsolete mental retardation, X-linked, nonsyndromic" "" "true" + "microphthalmia, isolated, with cataract" "" + "cataract" "Partial or complete opacity of the crystalline lens of one or both eyes that decreases visual acuity and eventually results in blindness. Some cataracts appear in infancy or in childhood, but most develop in older individuals. (Sternberg Diagnostic Surgical Pathology, 3rd ed.)" "" + "microphthalmia, isolated, with coloboma" "A developmental disorder of the eye characterized by unilateral or bilateral microphthalmia associated with ocular coloboma." "" + "coloboma" "An abnormality in which a part of a structure in one or both eyes is missing." "" + "isolated anophthalmia-microphthalmia syndrome" "Anophthalmia and microphthalmia describe, respectively, the absence of an eye and the presence of a small eye within the orbit." "" + "muscular dystrophy-dystroglycanopathy, type A" "" + "metabolic disease with epilepsy" "True" + "syndromic neurometabolic disease with non-X-linked intellectual disability" "True" + "qualitative or quantitative defects of FKRP" "" + "qualitative or quantitative defects of protein O-mannosyltransferase 1" "" + "qualitative or quantitative defects of protein O-mannosyltransferase 2" "" + "disorder of O-mannosylglycan synthesis" "" + "congenital muscular alpha-dystroglycanopathy with brain and eye anomalies" "Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies (MDDGA) is a cobblestone lissencephaly characterized by and considered to be pathognomonic of a continuum of recessive autosomal disorders with brain, ocular and muscular involvement. MDDGA includes Walker-Warburg syndrome, muscle-eye-brain disease, Fukuyama muscular and cerebral dystrophy and muscle eye brain disease with bilateral multicystic leukodystrophy." "True" + "congenital disorder of glycosylation with neurological involvement" "True" + "congenital disorder of glycosylation with developmental anomaly" "True" + "congenital vitreoretinal dysplasia" "" + "myopathy with eye involvement" "True" + "myopathy caused by variation in FKRP" "Any myopathy in which the cause of the disease is a variation in the FKRP gene." "" + "myopathy caused by variation in POMGNT1" "Any myopathy in which the cause of the disease is a variation in the POMGNT1 gene." "" + "muscular dystrophy-dystroglycanopathy, type B" "" + "muscular dystrophy-dystroglycanopathy" "" + "muscular dystrophy-dystroglycanopathy, type C" "" + "obsolete split-hand/foot malformation with long bone deficiency" "" "true" + "obsolete ataxia-telangiectasia-like disorder" "" "true" + "obsolete megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome" "" "true" + "obsolete laryngeal abductor paralysis" "" "true" + "obsolete breasts and/or nipples, aplasia or hypoplasia of" "" "true" + "Neu-Laxova syndrome" "Neu-Laxova syndrome (NLS) is a rare, multiple malformation syndrome characterised by severe intrauterine growth retardation (IUGR), severe microcephaly with a sloping forehead, severe ichthyosis (collodion baby type), and facial dysmorphism." "" + "lissencephaly type 3" "" + "multiple congenital anomalies/dysmorphic syndrome-intellectual disability" "" + "developmental anomaly of metabolic origin" "" + "autosomal ichthyosis syndrome with prominent neurologics signs" "True" + "autosomal ichthyosis syndrome with fatal disease course" "True" + "3-phosphoglycerate dehydrogenase deficiency" "" + "genetic multiple congenital anomalies/dysmorphic syndrome" "An instance of multiple congenital anomalies/dysmorphic syndrome that is caused by an inherited modification of the individual's genome." "" + "obsolete inflammatory skin and bowel disease, neonatal" "" "true" + "microcephaly and chorioretinopathy" "" + "chorioretinitis" "Inflammation of the distal posterior uveal tract (choroid) and its structural and vascular attachments to the retina. It is usually caused by infection and though rare, it is clinically significant due to its most serious sequela: loss of vision." "" + "congenital myasthenic syndrome with tubular aggregates" "A congenital myasthenic syndrome with a finding of tubular aggregates in myofibers." "" + "congenital myasthenic syndrome" "Congenital myasthenic syndrome (CMS) is a group of genetic disorders of impaired neuromuscular transmission at the motor endplate characterized by fatigable muscle weakness." "" + "obsolete hypertrophic osteoarthropathy, primary" "" "true" + "obsolete congenital vitamin K-dependent coagulation factors combined deficiency" "" "true" + "obsolete polyposis syndrome, hereditary mixed" "" "true" + "obsolete spondyloepimetaphyseal dysplasia with joint laxity" "" "true" + "obsolete ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome" "" "true" + "GLUT1 deficiency syndrome" "" + "neurometabolic disease" "" + "glucose transport disorder" "An acquired metabolic disease that is has its basis in the disruption of glucose transport." "" + "metabolic epilepsy" "Metabolic epilepsies are conceptualized as having a distinct metabolic abnormality that has been demonstrated to be associated with a substantially increased risk of developing epilepsy in appropriately designed studies. Metabolic disorders have genetic origin; however, the metabolic abnormalities are a separate disorder interposed between the genetic defect and the epilepsy." "" + "obsolete Schindler disease" "" "true" + "ventricular fibrillation" "A disorder characterized by an electrocardiographic finding of a rapid grossly irregular ventricular rhythm with marked variability in QRS cycle length, morphology, and amplitude. The rate is typically greater than 300 bpm. (CDISC)" "" + "cardiac rhythm disease" "Any variation from the normal rate or rhythm (which may include the origin of the impulse and/or its subsequent propagation) in the heart." "" + "obsolete renal hypodysplasia/aplasia" "" "true" + "polyglucosan body myopathy" "" + "myopathy" "A disease of the muscle in which the muscle fibers do not function properly. This results in muscular weakness." "" + "cortisone reductase deficiency" "A disorder in which there is a failure to regenerate the active glucocorticoid cortisol from cortisone via 11beta-HSD1. The resulting lack of cortisol regeneration stimulates ACTH-mediated adrenal hyperandrogenism, with males manifesting in childhood with precocious pseudopuberty and females presenting in adolescence and early adulthood with hirsutism, oligoamenorrhea, and infertility." "" + "inherited lipid metabolism disorder" "An inherited metabolic disorder caused by an enzyme deficiency, resulting in an inability to oxidize fatty acids for energy production." "" + "adrenogenital syndrome" "Abnormal sex differentiation or congenital disorders of sex development caused by abnormal levels of steroid hormones expressed by the gonads or the adrenal glands, such as in congenital adrenal hyperplasia and adrenal cortex neoplasms. Due to abnormal steroid biosynthesis, clinical features include virilism in females; feminization in males; or precocious sexual development in children." "" + "anomaly of puberty or/and menstrual cycle of genetic origin" "An instance of anomaly of puberty or/and menstrual cycle that is caused by a modification of the individual's genome." "" + "obsolete Otofaciocervical syndrome" "" "true" + "obsolete atrial standstill" "" "true" + "obsolete ataxia-oculomotor apraxia" "" "true" + "obsolete singleton-Merten syndrome" "" "true" + "obsolete linear skin defects with multiple congenital anomalies" "" "true" + "obsolete familial adenomatous polyposis" "" "true" + "Zimmermann-Laband syndrome" "Zimmermann-Laband syndrome (ZLS) is a rare disorder characterized by gingival fibromatosis, coarse facial appearance, and absence or hypoplasia of nails or terminal phalanges of hands and feet." "" + "malformation syndrome with odontal and/or periodontal component" "True" + "obsolete thyroid cancer, nonmedullary" "" "true" + "obsolete Heimler syndrome" "" "true" + "obsolete Dehydrated hereditary stomatocytosis" "" "true" + "obsolete skin creases, congenital symmetric circumferential" "" "true" + "obsolete radioulnar synostosis with amegakaryocytic thrombocytopenia" "" "true" + "obsolete cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy" "" "true" + "obsolete hypotonia, infantile, with psychomotor retardation and characteristic facies" "" "true" + "microcephaly, short stature, and impaired glucose metabolism 1" "" + "primary microcephaly-mild intellectual disability-young-onset diabetes syndrome" "" + "prenatal-onset spinal muscular atrophy with congenital bone fractures" "" + "arthrogryposis multiplex congenita" "Arthrogryposis multiplex congenita (AMC) is a group of disorders characterized by congenital limb contractures. It manifests as limitation of movement of multiple limb joints at birth that is usually non-progressive and may include muscle weakness and fibrosis. AMC is always associated with decreased intrauterine fetal movement which leads secondarily to the contractures." "" + "hereditary motor neuron disease" "An instance of motor neuron disease that is caused by an inherited modification of the individual's genome." "" + "spinal muscular atrophy" "Spinal muscular atrophy (SMA) refers to a group of inherited conditions that affect the muscles. The severity of the condition; the associated signs and symptoms; and the age at which symptoms develop varies by subtype. In general, people with SMA experience progressive weakness and atrophy of muscles involved in mobility, the ability to sit unassisted, and head control. Breathing and swallowing may also be affected in severe cases. SMA is generally caused by changes (mutations) in the SMN1 gene and is inherited in an autosomal recessive manner. Extra copies of the SMN2 gene modify the severity of SMA. Rare autosomal dominant (caused by mutations in DYNC1H1, BICD2, or VAPB genes) and X-linked (caused by mutations in UBA1) forms of SMA exist. Treatment is based on the signs and symptoms present in each person." "" + "thiopurine metabolic disease" "" + "striatal degeneration, autosomal dominant" "An adult-onset movement disorder characterized by bradykinesia, dysarthria and muscle rigidity." "" + "striatonigral degeneration" "A progressive neurodegenerative disorder caused by a disruption in the connection between the striatum and the substantia nigra. It is a type of multiple system atrophy (MSA). Signs and symptoms include rigidity, instability, impaired speech, and slow movements." "" + "hypercalcemia, infantile" "A hypercalcemia disease that occurs between 28 days to one year of life.." "" + "hypercalcemia disease" "Abnormally high concentration of calcium in the peripheral blood." "" + "autoimmune disease, multisystem, infantile-onset" "" + "autoimmune disease" "A disorder resulting from loss of function or tissue destruction of an organ or multiple organs, arising from humoral or cellular immune responses of the individual to their own tissue constituents. It may be systemic (e.g., systemic lupus erythematosus), or organ specific, (e.g., thyroiditis)." "" + "hypermanganesemia with dystonia" "" + "obsolete epilepsy, familial focal, with variable foci" "" "true" + "obsolete congenital bilateral aplasia of vas deferens" "" "true" + "obsolete Frontometaphyseal dysplasia" "" "true" + "preimplantation embryonic lethality" "" + "obsolete uncombable hair syndrome" "" "true" + "obsolete anterior segment dysgenesis" "" "true" + "obsolete cerebroretinal microangiopathy with calcifications and cysts" "" "true" + "seminal vesicle acute gonorrhea" "Acute form of gonococcal seminal vesiculitis." "" + "gonococcal seminal vesiculitis" "A gonorrhea that involves the seminal vesicle." "" + "obsolete chikungunya" "" "true" + "acquired carbohydrate metabolism disease" "An acquired metabolic disease that is has its basis in the disruption of carbohydrate metabolism." "" + "acquired metabolic disease" "An instance of metabolic disease that is acquired during the lifetime of the individual." "" + "carbohydrate metabolism disease" "A disease that has its basis in the disruption of carbohydrate metabolic process." "" + "human monocytic ehrlichiosis" "A form of ehrlichiosis associated with Ehrlichia chaffeensis, an obligate intracellular pathogen affecting monocytes and macrophages." "" + "ehrlichiosis" "Human ehrlichiosis and anaplasmosis describe a group of acute febrile tick-borne diseases characterized by an overlapping clinical picture that includes fever, headache, myalgias, arthralgias, skin eruptions, gastrointestinal symptoms and neurological manifestations. Diseases in this group include human monocytotropic ehrlichiosis (HME), human granulocytotropic anaplasmosis (HGA), and human ehrlichiosis ewingii (HEE)." "" + "leukocyte disease" "A disease involving leukocytes." "" + "mineral metabolism disease" "" + "African tick-bite fever" "" + "infectious disease" "A disorder directly resulting from the presence and activity of a microbial, viral, or parasitic agent. It can be transmitted by direct or indirect contact." "" + "spotted fever" "A type of tick-borne disease which presents on the skin caused by bacteria of the genus Rickettsia." "" + "obsolete Astrakhan spotted fever" "" "true" + "Indian tick typhus" "An infectious disease caused by infection with rickettsia conorii subsp. coronorii." "" + "Rickettsia conorii infectious disease" "" + "Israeli tick typhus" "An infectious disease caused by infection with rickettsia conorii subsp. israelensis." "" + "Far eastern spotted fever" "" + "Flinders island spotted fever" "A spotted fever that has material basis in Rickettsia honei, which is transmitted by cayenne ticks (Amblyomma cajennense). The infection has symptom mild spotted fever, has symptom eschar and has symptom adenopathy." "" + "Japanese spotted fever" "A spotted fever that has material basis in Rickettsia japonica, which is transmitted by ticks (Dermacentor taiwanensis and Haemaphysalis flava). The infection has symptom fever, has symptom eschars, has symptom regional adenopathy, and has symptom rash on extremities." "" + "Rickettsia parkeri spotted fever" "A spotted fever that has material basis in Rickettsia parkeri, which is transmitted by Gulf Coast tick (Amblyomma maculatum). The infection has symptom fever, has symptom headache, has symptom eschar, and has symptom rash." "" + "obsolete Rocky mountain spotted fever" "" "true" + "oropharyngeal anthrax" "A anthrax infection that involves the oropharynx." "" + "anthrax infection" "An infection caused by Bacillus anthracis bacteria. It may affect the lungs, gastrointestinal tract, or skin. Patients with lung infection present with fever, headaches, cough, chest pain and shortness of breath. Patients with gastrointestinal infection present with nausea, vomiting and bloody diarrhea. Patients with skin infection develop blisters and ulcers." "" + "gastrointestinal anthrax" "An anthrax disease that results in infection located in mucosa of gastrointestinal tract, has material basis in Bacillus anthracis, which is transmitted by ingestion of anthrax-infected meat. The infection has symptom lesions, has symptom vomiting of blood, has symptom severe diarrhea, has symptom loss of appetite." "" + "disease of pharynx" "A non-neoplastic or neoplastic disorder that affects the pharynx. Representative examples include pharyngitis and carcinoma." "" + "digestive system infectious disease" "A viral, bacterial, fungal, or parasitic infectious process that affects the digestive system." "" + "erysipeloid" "An infection caused by Erysipelothrix rhusiopathiae that is almost wholly restricted to persons who in their occupation handle infected fish, shellfish, poultry, or meat. Three forms of this condition exist: a mild localized form manifested by local swelling and redness of the skin; a diffuse form that might present with fever; and a rare systemic form associated with endocarditis." "" + "Erysipelothrix rhusiopathiae infectious disease" "A disease caused by infection with Erysipelothrix rhusiopathiae." "" + "primary bacterial infectious disease" "" + "pestis minor" "A mild form of bubonic plague characterized by symptoms such as mild fever and lymphadenitis." "" + "bubonic plague" "A plague in which the bacteria have infected the lymphatic system." "" + "adiaspiromycosis" "Adiaspiromycosis is a rare fungal infection in the lung and is caused by inhalation of spores of the saprophytic soil fungus Chrysosporium parvum var crescens (previously known as Emmonsia crescens)." "" + "primary systemic mycosis" "A systemic mycosis that arises from infection in an immunologically normal host." "" + "fungal lung infectious disease" "Pulmonary diseases caused by fungal infections, usually through hematogenous spread." "" + "invasive aspergillosis" "An aspergillosis that is a serious fungal infection of the lung with pneumonia caused by Aspergillus, which spreads to other parts of the body through bloodstream in patients with acute leukemia and recipients of tissue transplants. Clinical symptoms include pulmonary nodules and hemorrhage." "" + "pulmonary aspergilloma" "A aspergillosis that involves the lung." "" + "Keshan disease" "A congestive cardiomyopathy caused by a combination of dietary deficiency of selenium and the presence of a mutated strain of Coxsackievirus." "" + "nutritional deficiency disease" "A condition produced by dietary or metabolic deficiency. The term includes all diseases caused by an insufficient supply of essential nutrients, i.e., protein (or amino acids), vitamins, and minerals. It also includes an inadequacy of calories. (From Dorland, 27th ed; Stedman, 25th ed)" "" + "cardiomyopathy" "A disease of the heart muscle or myocardium proper. Cardiomyopathies may be classified as either primary or secondary, on the basis of etiology, or on the pathophysiology of the lesion: hypertrophic, dilated, or restrictive." "" + "enterovirus infectious disease" "An disease caused by infection with Enterovirus." "" + "tinea barbae" "A dermatophytosis that involves the beard." "" + "dermatophytosis" "A common fungal infection of the stratum corneum of the skin, hair, or nails by a dermatophyte. It is characterized by itching, inflammation, redness of the skin, small papular vesicles, central clearing, fissures, scaling, and/or hair loss in the affected area." "" + "face disease" "A disease or disorder that involves the face." "" + "ectothrix infectious disease" "A dermatophyte infection of the hair that infects the hair surface." "" + "endothrix infectious disease" "A dermatophyte infection of the hair that nvade the hair shaft and internalize into the hair cell." "" + "piedra" "Either of two diseases resulting from fungal infection of the hair shafts. Black piedra occurs mainly in and on the hairs of the scalp and is caused by Piedraia hortae; white piedra occurs in and on the hairs of the scalp, beard, moustache and genital areas and is caused by Trichosporon species." "" + "tinea imbricata" "A tinea corporis that results in fungal infection located in skin, has material basis in Trichophyton concentricum, which is characterized by ring-like growth in overlapping circles that may have an autosomal dominant genetic predisposition." "" + "tinea corporis" "A dermatophyte disease of the glabrous skin, excluding the scalp, beard, face, hands, feet, and groin." "" + "obsolete la Crosse encephalitis" "" "true" + "obsolete hemophagocytic lymphohistiocytosis" "A rare but potentially life-threatening disorder characterized by the proliferation of histiocytes and macrophages and phagocytosis of red blood cells, white blood cells, and platelets. It may be inherited or secondary, due to infections, autoimmune disorders, or underlying malignancies. Signs and symptoms include fever, lymphadenopathy, hepatomegaly, splenomegaly, and pancytopenia." "" "true" + "dengue shock syndrome" "A dengue disease that involves the most severe form of dengue fever, has material basis in Dengue virus [NCBITaxon:12637] with four serotypes (Dengue virus 1, 2, 3 and 4), which are transmitted by Aedes mosquito bite. The infection has symptom easy bruising, has symptom blood spots, has symptom bleeding gums, and has symptom nosebleeds. It is accompanied by circulatory collapse, involves hypotension, narrow pulse pressure (less than or equal to 20mm Hg), or frank shock. The shock occurs after two to six days of symptoms, followed by collapse, weak pulse, and blueness around the mouth." "" + "Dengue hemorrhagic fever" "A serious condition caused by Dengue virus infection. Patients present with an acute febrile illness followed by restlessness, irritability, and bleeding. It may lead to hemorrhagic shock and death." "" + "secretory diarrhea" "Watery voluminous diarrhea resulting from an imbalance between ion and water secretion and absorption." "" + "diarrheal disease" "The condition of having at least three loose or liquid bowel movements each day." "" + "osmotic diarrheal disease" "A diarrhea that results from the presence of osmotically active, poorly absorbed solutes in the bowel lumen that inhibit normal water and electrolyte absorption." "" + "non-infectious diarrheal disease" "" + "diarrheal disease secondary to altered bowel motility" "A diarrhea that results from either increased or decreased motility in the bowel." "" + "inflammatory diarrhea" "An diarrhea (disease) involving a pathogenic inflammatory response in the intestinal mucosa." "" + "gastrointestinal mucositis" "Inflammation of the mucous membranes lining the gastrointestinal tract." "" + "gastroenteritis" "An inflammatory disorder that affects the upper and lower gastrointestinal tract. Most commonly, this is attributed to viruses; however bacteria, parasites or adverse reactions can also be the culprit. Symptoms include acute diarrhea and vomiting." "" + "fungal infectious disease" "An infection caused by a fungus." "" + "disease of pilosebaceous unit" "A disease that involves the pilosebaceous unit." "" + "superficial mycosis" "A mycosis that is limited to the stratum corneum and essentially elicits no inflammation." "" + "skin appendage disease" "A disease that involves the cutaneous appendage." "" + "cutaneous mycosis" "A mycosis that involves the integument and its appendages, including hair and nails. Infection may involve the stratum corneum or deeper layers of the epidermis." "" + "integumentary system disease" "A disease involving the integumental system." "" + "restricted to specific location" "" + "subcutaneous mycosis" "A mycosis that involves subcutaneous tissue. There are three general types of subcutaneous mycoses: chromoblastomycosis, mycetoma, and sporotrichosis." "" + "systemic mycosis" "A mycosis that involves the lungs, abdominal viscera, bones and or central nervous system." "" + "disseminated" "" + "acute diarrhea" "Acute form of diarrhea." "" + "obsolete intestinal botulism" "" "true" + "asymptomatic dengue" "" + "dengue disease" "Dengue fever (DF), caused by dengue virus, is an arboviral disease characterized by an initial non-specific febrile illness that can sometimes progress to more severe forms manifesting capillary leakage and hemorrhage (dengue hemorrhagic fever, or DHF) and shock (dengue shock syndrome, or DSS)." "" + "obsolete Kartagener syndrome" "" "true" + "adenoiditis" "An inflammatory disease involving a pathogenic inflammatory response in the pharyngeal tonsil." "" + "tonsillitis" "Inflammation of the tonsillar tissue." "" + "nasopharyngitis" "An inflammatory process that affects the nasopharynx." "" + "otomycosis" "Fungus infection of the external ear, usually by aspergillus species" "" + "otitis externa" "Inflammation of the anatomical structures of the outer ear and ear canal secondary to an infectious process. Bacterial etiology is most common, but fungal infection is also possible. Symptoms include erythema, edema, and pain." "" + "skin disease caused by infection" "Skin diseases caused by bacteria, fungi, parasites, or viruses." "" + "laryngotracheitis" "An inflammation of both larynx and trachea." "" + "laryngitis" "An acute or chronic, bacterial or viral inflammatory process affecting the larynx. Signs and symptoms include sore throat, cough, swallowing difficulties, and hoarseness." "" + "tracheitis" "A tracheal disease which involves bacterial infection of the trachea often caused by Staphylococcus aureus and streptococci that follows a recent viral upper respiratory infection. The symptoms include barking croup cough, loud squeaking noise while breathing, scratchy feeling in the throat, high fever, and production of large amounts of pus-filled secretions." "" + "obsolete Pontiac fever" "" "true" + "aspiration pneumonia" "A type of lung inflammation resulting from the aspiration of food, liquid, or gastric contents into the upper respiratory tract." "" + "pneumonia" "An acute, acute and chronic, or chronic inflammation focally or diffusely affecting the lung parenchyma, caused by an infection in one or both of the lungs (by bacteria, viruses, fungi, or mycoplasma.). Symptoms include cough, shortness of breath, fevers, chills, chest pain, headache, sweating, and weakness." "" + "aspergillosis" "Aspergillosis is an infection, growth, or allergic response caused by the Aspergillus fungus. There are several different kinds of aspergillosis. One kind is allergic bronchopulmonary aspergillosis (also called ABPA), a condition where the fungus causes allergic respiratory symptoms similar to asthma, such as wheezing and coughing, but does not actually invade and destroy tissue. Another kind of aspergillosis is invasive aspergillosis. This infection usually affects people with weakened immune systems due to cancer, AIDS, leukemia, organ transplantation, chemotherapy, or other conditions or events that reduce the number of normal white blood cells. In this condition, the fungus invades and damages tissues in the body. Invasive aspergillosis most commonly affects the lungs, but can also cause infection in many other organs and can spread throughout the body (commonly affecting the kidneys and brain). Aspergilloma, a growth (fungus ball) that develops in an area of previous lung disease such as tuberculosis or lung abscess, is a third kind of aspergillosis. This type of aspergillosis is composed of a tangled mass of fungus fibers, blood clots, and white blood cells. The fungus ball gradually enlarges, destroying lung tissue in the process, but usually does not spread to other areas." "" + "obsolete cryptogenic organizing pneumonia" "" "true" + "obsolete lymphoid interstitial pneumonia" "" "true" + "obsolete inhalation anthrax" "" "true" + "lower respiratory tract disease" "A disease involving the lower respiratory tract." "" + "respiratory system disease" "A non-neoplastic or neoplastic disorder that affects the respiratory system. Representative examples include pneumonia, chronic obstructive pulmonary disease, pulmonary failure, lung adenoma, lung carcinoma, and tracheal carcinoma." "" + "tuberculous salpingitis" "An urogenital tuberculosis involving a pathogenic inflammatory response in the fallopian tube." "" + "salpingitis" "Acute or chronic inflammation of the fallopian tube. It is most often caused by Neisseria gonorrhoeae and Chlamydia trachomatis infections. The infections usually originate in the vagina and ascend to the fallopian tube. Symptoms include abdominal, pelvic, and lower back pain, pain during ovulation and sexual intercourse, fever, nausea, and vomiting. Complications include infertility and ectopic pregnancy." "" + "urogenital tuberculosis" "A general term for mycobacterium infections of any part of the urogenital system in either the male or the female." "" + "obsolete autoimmune polyendocrine syndrome type 2" "" "true" + "Kunjin virus infectous disease" "" + "West-Nile encephalitis" "An acute arboviral infection caused by a virus of the Flaviviridae family transmitted by an infected mosquito, that is asymptomatic in the majority of cases but that can present in rare occasions with mild flulike symptoms such as low-grade fever, arthralgia, myalgia, and/or rash, or with neurologic manifestations including meningitis, encephalitis with mental confusion or disorientation, tremors and acute flaccid paralysis/poliomyelitis." "" + "obsolete tick-borne encephalitis" "" "true" + "obsolete monogenic disease" "A genetic disease that is the result of one or more abnormal alleles and may be dominant (a single copy of the abnormal allele is sufficient to give rise to the disease), semi-dominant, or recessive (requiring both copies of the gene to have an abnormal allele)." "" "true" + "Powassan encephalitis" "A disease caused by infection with Powassan virus." "" + "Flaviviridae infectious disease" "Infections with viruses of the family flaviviridae." "" + "viral encephalitis" "Encephalitis resulting from viral infection." "" + "tick-borne infectious disease" "Bacterial, viral, or parasitic diseases transmitted to humans and animals by the bite of infected ticks. The families Ixodidae and Argasidae contain many bloodsucking species that are important pests of man and domestic birds and mammals and probably exceed all other arthropods in the number and variety of disease agents they transmit. Many of the tick-borne diseases are zoonotic." "" + "obsolete Argentine hemorrhagic fever" "" "true" + "obsolete Bolivian hemorrhagic fever" "" "true" + "obsolete Venezuelan hemorrhagic fever" "" "true" + "obsolete Brazilian hemorrhagic fever" "" "true" + "obsolete Chapare hemorrhagic fever" "" "true" + "Whitewater Arroyo hemorrhagic fever" "A viral infectious disease that is a hemorrhagic fever, has material basis in Whitewater Arroyo virus, which is transmitted by white-throated woodrats (Neotoma albigula). The infection has symptom fever, has symptom headache, has symptom myalgia, and has symptom hemorrhagic manifestations." "" + "Arenaviridae infectious disease" "Virus diseases caused by the arenaviridae." "" + "vector-borne disease" "An infectious disease where a pathogen is carried and transmitted by another organism that acts as disease vector." "" + "Hantavirus hemorrhagic fever with renal syndrome, Seoul virus type" "" + "hantavirus hemorrhagic fever with renal syndrome" "A disorder caused by hantaviruses of the family Bunyaviridae. It is transmitted by rodents and is manifested with fever, hemorrhage, and renal failure. Other symptoms include headaches, abdominal and back pain, and blurred vision." "" + "Hantavirus hemorrhagic fever with renal syndrome, Puumala virus type" "" + "obsolete lujo hemorrhagic fever" "" "true" + "Epstein-Barr virus hepatitis" "A viral hepatitis that results in inflammation, located in liver, has material basis in Human herpesvirus 4 and has symptom headache, has symptom fatigue, has symptom fever, has symptom abdominal pain, has symptom nausea, and has symptom jaundice." "" + "Epstein-Barr virus infection" "An infection that is caused by Epstein-Barr virus." "" + "viral hepatitis" "An acute or chronic inflammation of the liver parenchyma caused by viruses. Representative examples include hepatitis A, B, and C, cytomegalovirus hepatitis, and herpes simplex hepatitis." "" + "obsolete Lambert-Eaton myasthenic syndrome" "" "true" + "polycystic echinococcosis" "" + "echinococcosis" "A parasitic infection caused by tapeworm larvae of Echinococcus. It affects livestock and humans. It is characterized by the formation of hydatid cysts mainly in the liver, lungs, spleen, and kidneys. Rupture of the cysts may lead to shock." "" + "liver disease" "A disease involving the liver." "" + "obsolete selective IgM deficiency disease" "" "true" + "primary amebic meningoencephalitis" "A infectious disease involving the Naegleria fowleri." "" + "protozoa infectious disease" "An infection that is caused by protozoans." "" + "infectious encephalitis" "An acute infectious process that affects the brain tissue. It is usually caused by viruses and less often by bacteria, parasites, and fungi." "" + "granulomatous amebic encephalitis" "Granulomatous amebic encephalitis is a life-threatening infection of the brain caused by the free-living amoebae Acanthamoeba spp., Balamuthia mandrillaris and Sappinia pedata. Acanthamoeba species, are commonly found in lakes, swimming pools, tap water, and heating and air conditioning units. The disease affects immunocompromised peple and is very serious. Symptoms include mental status changes, loss of coordination, fever, muscular weakness or partial paralysis affecting one side of the body, double vision, sensitivity to light and other neurologic problems. The diagnosis is difficult and is often made at advanced stages. Tests useful in the diagnosis include brain scans, biopsies, or spinal taps and in disseminated disease, biopsy of the involved sites and testing by the laboratory experts. Early diagnosis is important for the prognosis. No single drug is effective; hence multiple antibiotics are needed for successful treatment. A combination of surgical and medical interventions involving multiple specialty experts is required to prevent death and morbidity in survivors." "" + "Acanthamoeba infectious disease" "A infectious disease involving the Acanthamoeba." "" + "philophthalmiasis" "A disease caused by infection with Philophthalmus." "" + "echinostomiasis" "Infection by flukes of the genus Echinostoma." "" + "coenurosis" "A parasitic infection that develops in the intermediate hosts of some tapeworm species (Taenia multiceps, T. serialis, T. brauni, or T. glomerata) and are caused by the coenurus, the larval stage of these worms. This disease occurs mainly in sheep and other ungulates, but occasionally can occur in humans too by accidental ingestion of worms' eggs." "" + "taeniasis" "A parasitic infection caused by tapeworms of the genus Taenia. Humans are infected by eating undercooked or raw meat of infected animals. It is usually an asymptomatic infection and patients may become aware of the infection by noticing segments of the tapeworm in their feces. If symptoms are present, they include nausea, abdominal pain, indigestion, constipation, or diarrhea." "" + "mesocestoidiasis" "An disease or disorder caused by infection with Mesocestoides." "" + "Cestode infectious disease" "Infections with true tapeworms of the helminth subclass Cestoda." "" + "acanthocephaliasis" "An disease or disorder caused by infection with Acanthocephala." "" + "helminthiasis" "A parasitic infection characterized by the infestation with worms, mainly in the intestine." "" + "obsolete angiostrongyliasis" "" "true" + "baylisascariasis" "An infection that is caused by the raccoon nematode Baylisascaris procyonis, which is transmitted by the ingestion of embryonated eggs in contaminated soil; symptoms depend on larval migration sites (visceral organs, eye, or brain) provoking severe inflammatory responses." "" + "Ascaridida infectious disease" "Infections with nematodes of the order ascaridida." "" + "dioctophymiasis" "A disease caused by infection with Dioctophyme renale." "" + "Enoplea infectious disease" "Infections with nematodes of the order enoplida." "" + "thelaziasis" "A disease caused by infection with Thelazia." "" + "Rhabditida infectious disease" "Infections with nematodes of the order rhabditida." "" + "obsolete tungiasis" "" "true" + "ophthalmomyiasis" "An myiasis caused by infection with Oestrus ovis." "" + "myiasis" "The infection of a fly larva (maggot) in human tissue, which most commonly occurs in tropical climates. Affected tissues most commonly include skin, especially if open wounds are present, nasal passages, ears, and eyes." "" + "hypodermyiasis" "Infestation with larvae of the genus Hypoderma, the warble fly." "" + "basidiobolomycosis" "A disease caused by infection with Basidiobolus." "" + "Zygomycosis" "Any infection due to a fungus of the Zygomycota phylum. The disease typically involves the rhino-facial-cranial area, lungs, gastrointestinal tract, skin, or less commonly other organ systems. The infecting fungi have a predilection for invading vessels of the arterial system, causing embolization and subsequent necrosis of surrounding tissue." "" + "skin disease" "Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." "" + "conidiobolomycosis" "" + "penicilliosis" "A disease caused by infection with Talaromyces marneffei." "" + "opportunistic systemic mycosis" "A mycosis that arises from infection in an immunologically compromised host and is systemic." "" + "obsolete fusariosis" "" "true" + "trichosporonosis" "Fungal infections caused by trichosporon that may become systemic especially in an immunocompromised host. Clinical manifestations range from superficial cutaneous infections to systemic lesions in multiple organs." "" + "parasitic Ichthyosporea infectious disease" "A disease caused by infection with Ichthyosporea." "" + "parasitic infectious disease" "A successful invasion of a host by an organism that uses the host for food and shelter." "" + "primary infectious" "A characteristic of an infectious disease in which the disease affects an immunologically normal host." "" + "opportunistic mycosis" "A mycosis that arises from infection in an immunologically compromised host." "" + "aniseikonia" "A condition in which the ocular image of an object as seen by one eye differs in size and shape from that seen by the other." "" + "refractive error" "A defect in the focusing of light on the retina as in astigmatism, myopia, or hyperopia." "" + "Alkhurma hemorrhagic fever" "A disease caused by infection with Alkhumra hemorrhagic fever virus." "" + "Kyasanur forest disease" "Kyasanura forest disease (KFD), caused by the KFD virus, is an arbovirus characterized by an initial fever, headache and myalgia that can progress to a hemorrhagic disease and that in some cases is followed by a second phase characterized by neurological manifestations." "" + "obsolete congenital hypothyroidism" "" "true" + "obsolete enlarged vestibular aqueduct" "" "true" + "hypophosphatemia" "Lower than normal levels of phosphates in the circulating blood." "" + "phosphorus metabolism disease" "A metabolic disorder that affects the phosphate homeostasis." "" + "bacterial infectious disease" "An acute infectious disorder that is caused by gram positive or gram negative bacteria; representative examples include pneumococcal, streptococcal, salmonella, and meningeal infections." "" + "commensal bacterial infectious disease" "A bacterial infectious disease that results in infection by bacteria which are part of the normal human flora when one or more of the defense mechanisms designed to restrict them from the usually sterile internal tissues are breached by accident, by intent (surgery), or by an underlying metabolic or an infectious disorder." "" + "opportunistic bacterial infectious disease" "" + "opportunistic infectious" "A characteristic of an infectious disease in which the disease affects an immunologically compromised host." "" + "obsolete foodborne botulism" "" "true" + "obsolete wound botulism" "" "true" + "obsolete infant botulism" "" "true" + "glandular tularemia" "A tularemia that involves the lymph node." "" + "tularemia" "Tularemia is an infection caused by the bacterium Francisella tularensis. It is more common in rodents and rabbits but has been found in other animals including domestic cats, sheep, birds, and hamsters. Humans can become infected in several different ways: by handling infected animals, through tick or deer fly bites, by drinking contaminated water, or by inhaling contaminated dust or aerosols. Person-to-person transmission has not been reported. The type of tularemia and the particular signs and symptoms vary depending on how the bacteria enter the body. However, fever is seen in most cases. Though tularemia can be life-threatening, most infections can be treated with antibiotics." "" + "lymph node disease" "Any disorder of the lymph nodes." "" + "typhoidal tularemia" "A tularemia that results in bacteremia and has symptom fever, has symptom chills, has symptom myalgia, has symptom malaise, and has symptom weight loss." "" + "obsolete Carrion disease" "A disease caused by infection with Bartonella bacilliformis." "" "true" + "obsolete familial adenomatous polyposis" "" "true" + "obsolete familial partial lipodystrophy" "" "true" + "obsolete pachyonychia congenita" "" "true" + "obsolete lissencephaly" "" "true" + "Buruli ulcer disease" "A cutaneous infection caused by Mycobacterium ulcerans. It presents with painless nodular swelling of the skin, leading to the formation of necrotizing ulcers." "" + "mycobacterial infectious disease" "Infection due to organisms from the genus Mycobacteria." "" + "hyperphosphatemia" "Abnormally high level of phosphate in the blood." "" + "obsolete epidemic typhus" "" "true" + "endemic typhus" "A bacterial infection caused by Rickettsia typhi." "" + "typhus" "A group of infectious diseases that include epidemic typhus, scrub typhus and murine typhus." "" + "Rickettsia helvetica spotted fever" "A disease caused by infection with Rickettsia helvetica." "" + "sennetsu fever" "An ehlrichiosis caused by Neorickettsia sennetsu." "" + "Neorickettsia infectious disease" "A disease caused by infection with Neorickettsia." "" + "early congenital syphilis" "A congenital syphilis that is manifested between 0 and 2 years old." "" + "congenital syphilis" "A life-threatening bacterial infection of the newborn caused by Treponema pallidum. It is transmitted to the infant from a mother with syphilis through the placenta during pregnancy. Signs and symptoms include irritability, fever, failure to thrive, saddle nose, cutaneous rash, and pneumonia." "" + "multinodular goiter" "Nodular goiter characterized by more than one discrete tissue mass." "" + "nodular goiter" "Goiter characterized by discrete tissue mass(es) that may or may not produce thyroid hormones." "" + "parenchymatous neurosyphilis" "A tertiary neurosyphilis that results when chronic meningoencephalitis causes destruction of cortical parenchyma. The infection has symptom irritability, has symptom difficulty concentrating, has symptom deterioration of memory, has symptom defective judgment, has symptom headaches, has symptom insomnia, has symptom fatigue, and has symptom lethargy." "" + "neurosyphilis" "Infection of the brain or spinal cord by Treponema pallidum. It occurs many years following the original infection which remained untreated. Signs and symptoms include abnormal gait, blindness, depression, paralysis, seizures and dementia." "" + "insomnia" "A sleep disorder characterized by difficulty in falling asleep and/or remaining asleep." "" + "meningovascular neurosyphilis" "A tertiary neurosyphilis that results in inflammation located in arteries of the brain or located in arteries of spinal cord. The infection has symptom headache, has symptom neck stiffness, has symptom dizziness, has symptom behavioral abnormalities, has symptom poor concentration, has symptom memory loss, has symptom lassitude, has symptom insomnia, has symptom blurred vision, has symptom weakness and wasting of shoulder-girdle and arm muscles, has symptom slowly progressive leg weakness with urinary or fecal incontinence or both, and has symptom paralysis of the legs due to thrombosis of spinal arteries." "" + "exanthema subitum" "An infection that is due to human herpesvirus (HHV) types 6 or 7; it is characterized by 3-5 days of high fever followed by the acute onset of a rosy, pink, non-pruritic, macular rash that is predominantly on the neck and trunk." "" + "viral infectious disease" "Any disease caused by a virus." "" + "exanthem" "Any change in the skin which affects its appearance or texture. A rash may be localized to one part of the body, or affect all the skin. Rashes may cause the skin to change color, itch, become warm, bumpy, dry, cracked or blistered, swell and may be painful." "" + "variola major infectious disease" "" + "smallpox" "A condition that is caused by infection with Variola, and that is characterized by small, raised bumps." "" + "spinal polio" "A paralytic poliomyelitis in which the site of paralysis is the spinal cord." "" + "paralytic poliomyelitis" "A poliomyelitis that results in destruction located in motor neurons of central nervous system, has material basis in Human poliovirus 1, has material basis in Human poliovirus 2, or has material basis in Human poliovirus 3, which are transmitted by ingestion of food or water contaminated with feces, or transmitted by direct contact with the oral secretions. The infection has symptom loss of reflexes, has symptom muscle spasms, and has symptom acute flaccid paralysis." "" + "bulbospinal polio" "A paralytic poliomyelitis in which the site of paralysis is the bulbospinal tract." "" + "poliomyelitis" "An acute infectious disorder that affects the nervous system. It is caused by the poliovirus. The virus spreads by direct contact, and can be prevented by prophylaxis with the polio vaccine." "" + "acute nonparalytic poliomyelitis" "A poliomyelitis that does not exhibit paralysis." "" + "O'nyong'nyong fever" "An disease or disorder caused by infection with O'nyong-nyong virus." "" + "Alphavirus infectious disease" "Virus diseases caused by members of the alphavirus genus of the family togaviridae." "" + "Barmah forest virus disease" "A disease caused by infection with Barmah Forest virus." "" + "Ross river fever" "A disease caused by infection with Ross River virus." "" + "Oropouche fever" "A disease caused by infection with Oropouche virus." "" + "Bunyaviridae infectious disease" "Virus diseases caused by the bunyaviridae." "" + "Hantavirus hemorrhagic fever with renal syndrome, Dobrava-Belgrade virus type" "" + "obsolete adult T-cell leukemia/lymphoma" "" "true" + "obsolete posterior polar cataract" "" "true" + "obsolete Charcot-Marie-Tooth disease type 1" "" "true" + "obsolete Charcot-Marie-Tooth disease intermediate type" "" "true" + "disorder of methionine catabolism" "An acquired metabolic disease that is has its basis in the disruption of methionine catabolic process." "" + "inborn disorder of methionine cycle and sulfur amino acid metabolism" "An acquired metabolic disease that is has its basis in the disruption of sulfur amino acid metabolic process." "" + "inborn disorder of aspartate family metabolism" "An acquired metabolic disease that is has its basis in the disruption of aspartate family amino acid metabolic process." "" + "obsolete hereditary sensory neuropathy" "" "true" + "obsolete Saldino-Noonan syndrome" "" "true" + "obsolete JMP syndrome" "" "true" + "Ullrich congenital muscular dystrophy" "Ullrich congenital muscular dystrophy (UCMD) is characterized by early-onset, generalized and slowly progressive muscle weakness, multiple proximal joint contractures, marked hypermobility of the distal joints and normal intelligence." "" + "congenital muscular dystrophy" "A muscular dystrophy that is characterized by diminished muscle tone (hypotonia), progressive muscle weakness and degeneration (atrophy), abnormally fixed joints, spinal rigidity, and delays in reaching motor milestones such as sitting or standing unassisted." "" + "obsolete Walker-Warburg syndrome" "" "true" + "obsolete West syndrome" "" "true" + "orofacial cleft" "" + "spondylocostal dysostosis" "Spondylocostal dysplasia is a rare genetic disorder characterized by defects of the bones of the spine (vertebrae) and abnormalities of the ribs. Ribs can be fused or missing in chaotic patterns. These malformations are present at birth (congenital)." "" + "vertebral column disease" "A disease involving the vertebral column." "" + "dysostosis of genetic origin" "An instance of dysostosis that is caused by a modification of the individual's genome." "" + "obsolete 2-hydroxyglutaric aciduria" "" "true" + "obsolete d-2-hydroxyglutaric aciduria" "" "true" + "obsolete Sensenbrenner syndrome" "" "true" + "gummatous syphilis" "A tertiary syphilis that is characterized by granulomatous lesions, called gummas, which are characterized by a center of necrotic tissue with a rubbery texture. They form in the liver, bones, and testes but may affect any organ." "" + "tertiary syphilis" "A stage of syphilis that occurs fifteen to thirty years after the initial infection; it can include gumma formation and cardiovascular or central nervous system involvement (neurosyphilis)." "" + "obsolete severe congenital neutropenia" "" "true" + "primary congenital glaucoma" "Primary congenital glaucoma (PCG) is characterized by elevated intraocular pressure (IOP), enlargement of the globe (buphthalmos), edema, and opacification of the cornea with rupture of Descemet's membrane (Haab's striae), thinning of the anterior sclera and iris atrophy, anomalously deep anterior chamber, and structurally normal posterior segment except for progressive glaucomatous optic atrophy. Symptoms include photophobia, blepharospasm, and excessive tearing. Typically, the diagnosis is made in the first year of life. Depending on when treatment is instituted, visual acuity may be reduced and/or visual fields may be restricted. In untreated individuals, blindness invariably occurs." "" + "congenital glaucoma" "Congenital glaucoma (CG) is a developmental glaucoma that results from the abnormal development of the aqueous drainage structure, characterized by an elevated intra-ocular pressure, enlargement of globe (buphthalmos), corneal edema and optic nerve cupping, and presenting clinically with the characteristic triad of epiphora, photophobia and blepharospasm." "" + "obsolete glycogen storage disease IX" "" "true" + "intestinal helminthiasis" "A parasitic helminthiasis infectious disease that involves the intestine." "" + "extrapulmonary tuberculosis" "A tuberculosis that occurs at body sites other than the lung." "" + "pulmonary tuberculosis" "A bacterial infection that affects the lungs and is caused by Mycobacterium tuberculosis. Most patients with tuberculosis do not have symptoms (latent tuberculosis) and are not contagious. When signs and symptoms occur (active tuberculosis), patients become contagious. The signs and symptoms include chronic cough with blood-tinged sputum, night sweats, fever, fatigue, and weight loss." "" + "abdominal tuberculosis" "An extrapulmonary tuberculosis that is located in gastrointestinal tract, located in peritoneum, located in omentum, located in mesentery, located in liver, located in spleen or located in pancreas." "" + "abdominal and pelvic region disorder" "A disease or disorder that involves the abdominal segment of trunk." "" + "obsolete Askin's tumor" "" "true" + "oral cavity carcinoma in situ" "A in situ carcinoma that involves the oral cavity." "" + "in situ carcinoma" "A malignant epithelial neoplasm which is confined to the epithelial layer without evidence of further tissue invasion." "" + "oral cavity carcinoma" "A carcinoma arising in the oral cavity. Most oral cavity carcinomas are squamous cell carcinomas of the tongue, buccal mucosa, or gums. Less frequent morphologic variants include mucoepidermoid carcinoma and adenocarcinoma." "" + "pharynx carcinoma in situ" "Stage 0 carcinoma of the pharynx according to the American Joint Committee on Cancer, 6th, 7th, and 8th editions." "" + "carcinoma of pharynx" "A carcinoma that involves the pharynx." "" + "gall bladder carcinoma in situ" "A carcinoma in situ involving a gall bladder." "" + "gallbladder carcinoma" "A carcinoma that arises from epithelial cells of the gall bladder" "" + "bile duct carcinoma in situ" "A carcinoma in situ involving a bile duct." "" + "liver carcinoma in situ" "A carcinoma in situ involving a liver." "" + "bile duct carcinoma" "A carcinoma that arises from epithelial cells of the bile duct" "" + "bronchus carcinoma in situ" "A carcinoma in situ involving a bronchus." "" + "bronchogenic carcinoma" "A lung carcinoma arising from the bronchial epithelium." "" + "lung carcinoma in situ" "A carcinoma in situ involving a lung." "" + "respiratory system cancer" "A malignant neoplasm involving the respiratory system" "" + "cancer" "A tumor composed of atypical neoplastic, often pleomorphic cells that invade other tissues. Malignant neoplasms often metastasize to distant anatomic sites and may recur after excision. The most common malignant neoplasms are carcinomas (adenocarcinomas or squamous cell carcinomas), Hodgkin and non-Hodgkin lymphomas, leukemias, melanomas, and sarcomas." "" + "malignant Leydig cell tumor" "A Leydig cell tumor characterized by large tumor size, the presence of cytologic atypia, increased mitotic activity, necrosis, and vascular invasion. Approximately 10% of the testicular Leydig cell tumors show malignant characteristics and metastasize. Leydig cell tumors of the ovary follow a benign clinical course." "" + "Leydig cell tumor" "A sex cord-stromal tumor occurring in the testis and rarely in the ovary. It is predominantly or completely composed of Leydig cells which may contain crystals of Reinke. In males it usually presents as a painless testicular enlargement and it may be associated with gynecomastia and decreased libido. The majority of the cases have a benign clinical course. Approximately 10% of the cases have a malignant clinical course and metastasize. In females it may be associated with androgenic manifestations and it follows a benign clinical course." "" + "reproductive system cancer" "A malignant neoplasm involving the reproductive organ" "" + "malignant Sertoli cell tumor" "A Sertoli cell tumor of the testis or the ovary which metastasizes to another anatomic site." "" + "Sertoli cell tumor" "A sex cord-stromal tumor of the testis or the ovary. It is characterized by the presence of Sertoli cells forming tubules. Leydig cells are rare or absent. It may be associated with Peutz-Jeghers syndrome. In males, the presenting symptom is a slow growing testicular mass. Most cases follow a benign clinical course. In females it may present with estrogenic or androgenic manifestations. The vast majority of cases have a benign clinical course." "" + "malignant Sertoli-Leydig cell tumor" "A malignant form of Sertoli-leydig cell tumor." "" + "Sertoli-Leydig cell tumor" "A sex cord-gonadal stromal tumor consists of leydig cells; sertoli cells; and fibroblasts in varying proportions and degree of differentiation. Most such tumors produce androgens in the Leydig cells, formerly known as androblastoma or arrhenoblastoma. Androblastomas occur in the testis or the ovary causing precocious masculinization in the males, and defeminization, or virilization (virilism) in the females. In some cases, the Sertoli cells produce estrogens." "" + "testicular cancer" "A primary or metastatic malignant neoplasm that affects the testis. Representative examples include seminoma, embryonal carcinoma, sarcoma, leukemia, and lymphoma." "" + "paranasal sinus carcinoma" "A malignant epithelial neoplasm arising in the paranasal sinus." "" + "carcinoma" "A malignant tumor arising from epithelial cells. Carcinomas that arise from glandular epithelium are called adenocarcinomas, those that arise from squamous epithelium are called squamous cell carcinomas, and those that arise from transitional epithelium are called transitional cell carcinomas. Morphologically, the malignant epithelial cells may display abnormal mitotic figures, anaplasia, and necrosis. Carcinomas are graded by the degree of cellular differentiation as well, moderately, or poorly differentiated. Carcinomas invade the surrounding tissues and tend to metastasize to other anatomic sites. Lung carcinoma, skin carcinoma, breast carcinoma, colon carcinoma, and prostate carcinoma are the most frequently seen carcinomas." "" + "bone carcinoma" "A carcinoma that involves the bone element." "" + "paranasal sinus cancer" "A primary or metastatic malignant neoplasm involving the paranasal sinuses." "" + "nasal cavity and paranasal sinus carcinoma" "A carcinoma arising from the nasal cavity or paranasal sinuses." "" + "infiltrating renal pelvis transitional cell carcinoma" "A infiltrating urothelial carcinoma that involves the renal pelvis." "" + "infiltrating urothelial carcinoma" "A invasive carcinoma that involves the urothelium." "" + "infiltrating renal pelvis/ureter urothelial carcinoma" "" + "renal pelvis urothelial carcinoma" "A carcinoma that arises from the transitional epithelium of the renal pelvis. It is associated with tobacco use and usually presents with gross or microscopic hematuria. Urothelial carcinomas of the renal pelvis are usually of higher grade and higher stage compared to bladder urothelial carcinomas." "" + "respiratory system benign neoplasm" "A benign neoplasm that involves the respiratory system." "" + "benign neoplasm" "A neoplasm which is characterized by the absence of morphologic features associated with malignancy (severe cytologic atypia, tumor cell necrosis, and high mitotic rate). Benign neoplasms remain confined to the original site of growth and do not metastasize to other anatomic sites." "" + "benign reproductive system neoplasm" "A non-metastasizing neoplasm that arises from the male or female reproductive system. Representative examples include benign prostate phyllodes tumor, benign Sertoli cell tumor, uterine corpus leiomyoma, and benign ovarian serous tumor." "" + "reproductive system neoplasm" "A benign or malignant, primary or metastatic neoplasm affecting the male and female reproductive system." "" + "bladder benign neoplasm" "A benign abnormal growth of the cells that comprise the bladder." "" + "benign urinary system neoplasm" "A non-metastasizing neoplasm that arises from the organs that comprise the urinary system. Representative examples include renal oncocytoma, bladder inverted papilloma, and urothelial papilloma." "" + "urinary bladder neoplasm" "A benign or malignant, primary or metastatic neoplasm of the bladder. - 2003" "" + "benign digestive system neoplasm" "A non-metastasizing neoplasm arising from any part of the digestive system." "" + "digestive system disease" "A disease or disorder that involves the digestive system." "" + "digestive system neoplasm" "A neoplasm (disease) that involves the digestive system." "" + "digestive system neuroendocrine tumor, grade 1/2" "A well-differentiated neuroendocrine tumor arising from the digestive system. It is characterized by the presence of cells with features similar to those of the normal endocrine cells of the digestive system. The neoplastic cells express immunohistochemical evidence of neuroendocrine differentiation and hormones. There is mild to moderate nuclear atypia and less than 20 mitoses per 10 HPF. It includes well-differentiated endocrine tumors or carcinoid tumors and well-differentiated endocrine carcinomas." "" + "neuroendocrine neoplasm" "Endocrine tumours, also referred to as neuroendocrine tumours (NETs), are defined by a common phenotype which is characterized by the expression of general markers (neuron specific enolase, chromogranin, synaptophysin) and hormone secretion products. These tumours may be localized in any part of the body and are generally discovered in non-specific situations, i.e. not immediately suggestive of NETs (tests for inherited predisposition to tumours or for a clinical syndrome caused by abnormal hormone secretion)." "" + "tumor grade 1 or 2, general grading system" "" + "digestive system neuroendocrine neoplasm" "A neoplasm with neuroendocrine differentiation arising from the digestive system. It includes neuroendocrine tumors (well-differentiated endocrine tumors or carcinoid tumors and well differentiated endocrine carcinomas) and neuroendocrine carcinomas (poorly differentiated neuroendocrine carcinomas, small cell carcinomas, and large cell neuroendocrine carcinomas)." "" + "anemia" "A reduction in the number of red blood cells, the amount of hemoglobin, and/or the volume of packed red blood cells. Clinically, anemia represents a reduction in the oxygen-transporting capacity of a designated volume of blood, resulting from an imbalance between blood loss (through hemorrhage or hemolysis) and blood production. Signs and symptoms of anemia may include pallor of the skin and mucous membranes, shortness of breath, palpitations of the heart, soft systolic murmurs, lethargy, and fatigability." "" + "microcytic anemia" "Anemia in which the red blood cell volume is decreased." "" + "hypochromic anemia" "Anemia caused by the reduction of hemoglobin in relation to the red cell volume. As a result, the red cells have an area of central pallor which is increased in size. The leading cause is iron deficiency." "" + "obsolete anonychia congenita" "" "true" + "atelosteogenesis" "" + "osteochondrodysplasia" "A term referring to disorders characterized by abnormalities in the development of bones and cartilage." "" + "vitelliform macular dystrophy" "A rare genetic disorder characterized by macular degeneration in the retina resulting in progressive loss of central vision with retention of the peripheral vision." "" + "macular degeneration" "Loss of vision in the central portion of the retina (macula), secondary to retinal degeneration." "" + "genetic macular dystrophy" "Macular dystrophy that is related to a change in a gene." "" + "obsolete Bethlem myopathy" "" "true" + "obsolete fetal alcohol syndrome" "" "true" + "partial fetal alcohol syndrome" "A fetal alcohol spectrum disorder that results in most, but not all, of the growth deficiency and/or craniofacial features of fetal alcohol syndrome including central nervous system dysfunction due to prenatal alcohol exposure." "" + "fetal alcohol spectrum disorder" "A group of disorders caused by a prenatal exposure to maternal consumption of alcohol leading to a range of behavioral, cognitive and neurological deficits in the offspring. It is characterized by physical growth problems, distinct facies, and varying psycho-neurological issues." "" + "obsolete alcohol-related neurodevelopmental disorder" "" "true" + "alcohol-related birth defect" "A physical or cognitive mental abnormality caused by maternal alcohol consumption and its toxic effect on the developing embryo during pregnancy." "" + "spastic cerebral palsy" "A form of cerebral palsy wherein spasticity is the exclusive impairment present." "" + "cerebral palsy" "A group of disorders affecting the development of movement and posture, often accompanied by disturbances of sensation, perception, cognition, and behavior. It results from damage to the fetal or infant brain." "" + "ataxic cerebral palsy" "A form of cerebral palsy caused by damage to cerebellar structures." "" + "obsolete female breast cancer" "" "true" + "obsolete dyskinetic cerebral palsy" "" "true" + "mixed cerebral palsy" "A subtype of cerebral palsy characterized by both the tight muscle tone of spastic cerebral palsy and the writhing, involuntary muscle movements of athetoid cerebral palsy." "" + "obsolete congenital bile acid synthesis defect" "" "true" + "small cell carcinoma" "A neuroendocrine carcinoma composed of small malignant cells which are often said to resemble \"oat cells\" under the microscope. Small cell carcinoma most often affects the lungs. Clinically, this is often a rapidly growing cancer that spreads to distant sites early." "" + "neuroendocrine carcinoma" "A malignant neuroendocrine neoplasm composed of cells containing secretory granules that stain positive for NSE and chromogranin. The neoplastic cells are often round and form clusters or trabecular sheets. Representative examples are small cell carcinoma, large cell neuroendocrine carcinoma, and Merkel cell carcinoma." "" + "obsolete organ system cancer" "" "true" + "obsolete cell type cancer" "" "true" + "anal canal cancer" "A malignant neoplasm involving the anal canal" "" + "intestinal cancer" "A malignant neoplasm involving the intestine" "" + "large intestine disease" "A disease that involves the large intestine." "" + "obsolete Brown-Vialetto-van Laere syndrome" "" "true" + "malignant pleural solitary fibrous tumor" "A malignant form of pleural solitary fibrous tumor." "" + "pleural solitary fibrous tumor" "A localized neoplasm of probable fibroblastic derivation, that arises from the pleura. It is characterized by the presence of round to spindle-shaped cells, hylanized stroma formation, thin-walled branching blood vessels, and thin bands of collagen." "" + "pleural cancer" "A primary or metastatic malignant neoplasm affecting the pleura. A representative example of primary malignant pleural neoplasm is the malignant pleural mesothelioma. A representative example of metastatic malignant neoplasm to the pleura is metastatic carcinoma that has spread to the pleura from another anatomic site." "" + "specific developmental disorder" "A developmental disorder of mental health that categorizes specific learning disabilities and developmental disorders affecting coordination." "" + "alcohol-induced mental disorder" "" + "alcohol-induced disorders" "Disorders stemming from the misuse and abuse of alcohol." "" + "chorioamnionitis" "A morphologic finding indicating inflammation of the fetal sac membranes. It is characterized by neutrophilic infiltration of the amnion and chorion." "" + "inflammatory disease" "A disease involving a pathogenic inflammatory response in the anatomical structure." "" + "disease of extraembryonic membrane" "A disease or disorder that involves the extraembryonic membrane." "" + "funisitis" "An acute inflammation of the umbilical cord. It is characterized by the presence of polymorphonuclear cells migrating from the fetal umbilical cord vessels through the umbilical cord towards the bacteria containing amniotic fluid." "" + "omphalitis" "Inflammation of the umbilical cord stump in newborns." "" + "pregnancy disorder" "A disorder that is related to pregnancy. Representative examples include ectopic pregnancy, toxemia of pregnancy, and gestational trophoblastic tumor." "" + "connective tissue disease" "A disease involving the connective tissue." "" + "electroclinical syndrome" "An epilepsy syndrome that is a group of clinical entities showing a cluster of electro-clinical characteristics, classified according to age at onset, cognitive and developmental antecedents and consequences, motor and sensory examinations, EEG features, provoking or triggering factors, and patterns of seizure occurrence with respect to sleep." "" + "epilepsy" "A brain disorder characterized by episodes of abnormally increased neuronal discharge resulting in transient episodes of sensory or motor neurological dysfunction, or psychic dysfunction. These episodes may or may not be associated with loss of consciousness or convulsions." "" + "neonatal period electroclinical syndrome" "An electroclinical syndrome with onset in the neonatal period less than 44 weeks of gestational age." "" + "infancy electroclinical syndrome" "An electroclinical syndrome with onset in infancy occurring between birth and one year of age." "" + "childhood electroclinical syndrome" "A electroclinical syndrome that occurs during childhood." "" + "adolescence-adult electroclinical syndrome" "An electroclinical syndrome with onset in adolescence and adulthood." "" + "obsolete variable age at onset electroclinical syndrome" "" "true" + "early onset absence epilepsy" "A childhood electroclinical syndrome characterized by the occurrence of typical absence seizures starting between the age of four and ten years." "" + "obsolete Ohtahara syndrome" "" "true" + "obsolete 3-Methylcrotonyl-CoA carboxylase deficiency" "" "true" + "obsolete cerebral folate receptor alpha deficiency" "" "true" + "inborn serine deficiency" "An acquired metabolic disease that is has its basis in the disruption of L-serine biosynthetic process." "" + "inborn disorder of serine family metabolism" "An acquired metabolic disease that is has its basis in the disruption of serine family amino acid metabolic process." "" + "obsolete inborn glycogen metabolism disorder" "" "true" + "obsolete coenzyme Q10 deficiency disease" "" "true" + "inborn vitamin B12 deficiency" "Low serum levels of vitamin B12 (cobalamin) due to poor intestinal absorption, decreased dietary intake, or increased physiologic requirement." "" + "inborn vitamin metabolic disorder" "An acquired metabolic disease that is has its basis in the disruption of vitamin metabolic process." "" + "vitamin B12 deficiency" "A disease characterized by low serum levels of vitamin B12, either inherited or acquired." "" + "X-linked disease" "X-linked form of disease." "" + "sex-linked disease" "" + "autosomal dominant disease" "Autosomal dominant form of disease." "" + "autosomal genetic disease" "A monogenic disease that is has material basis in a mutation in a single gene on one of the non-sex chromosomes." "" + "obsolete autosomal recessive disease" "" "true" + "Y-linked disease" "Y-linked form of disease." "" + "mature T-cell and NK-cell non-Hodgkin lymphoma" "This type of lymphoma is not frequently seen in the western hemisphere. Clinically, with the exception of anaplastic large cell lymphoma, mature T- and NK-cell lymphomas are among the most aggressive of all hematopoietic neoplasms. Representative disease entities include mycosis fungoides, angioimmunoblastic T-cell lymphoma, hepatosplenic T-cell lymphoma, and anaplastic large cell lymphoma." "" + "neoplasm of mature T-cells or NK-cells" "A group of neoplasms composed of T-lymphocytes with a mature (peripheral/post-thymic) immunophenotypic profile and/or NK-cells." "" + "T-cell non-Hodgkin lymphoma" "A non-Hodgkin lymphoma of T-cell lineage. It includes the T lymphoblastic lymphoma and the mature T- and NK-cell lymphomas. -- 2003" "" + "obsolete mantle cell lymphoma" "" "true" + "lymphoplasmacytic lymphoma" "A clonal neoplasm of small B-lymphocytes, lymphoplasmacytoid cells, and plasma cells involving the bone marrow, lymph nodes, and the spleen. The majority of patients have a serum IgM paraprotein." "" + "B-cell neoplasm" "A group of heterogeneous lymphoid tumors generally expressing one or more B-cell antigens or representing malignant transformations of B-lymphocytes." "" + "obsolete marginal zone B-cell lymphoma" "" "true" + "obsolete peripheral T-cell lymphoma" "" "true" + "obsolete splenic marginal zone lymphoma" "" "true" + "obsolete T-cell large granular lymphocyte leukemia" "" "true" + "cerebellar ataxia" "A neurological syndrome characterised by clumsy and unco-ordinated movement of the limbs, trunk, and cranial muscles. It results from pathology in the cerebellum and its connections, or in the proprioceptive sensory pathways." "" + "atactic disorder" "A central nervous system disease that consists of gait impairment, unclear (“scanning”) speech, visual blurring due to nystagmus, hand incoordination, and tremor with movement." "" + "cerebellar disease" "Diseases that affect the structure or function of the cerebellum. Cardinal manifestations of cerebellar dysfunction include dysmetria, gait ataxia, and muscle hypotonia." "" + "movement disorder" "Neurological conditions resulting in abnormal voluntary or involuntary movement, which may impact the speed, fluency, quality and ease of movement." "" + "rare" "A disease or disorder is defined as rare in Europe when it affects fewer than 1 in 2000. A disease or disorder is defined as rare in the USA when it affects fewer than 200,000 persons at any given time. Here we take the European definition to be consistent with Orphanet." "" + "obsolete ataxia with oculomotor apraxia type 2" "" "true" + "obsolete batten disease" "" "true" + "metabolic acidosis" "" + "acidosis disorder" "An abnormally high acidity of the blood and other body tissues. Acidosis can be either respiratory or metabolic." "" + "lactic acidosis" "Metabolic acidosis characterized by the accumulation of lactate in the body. It is caused by tissue hypoxia." "" + "obsolete X-linked myopathy with excessive autophagy" "" "true" + "obsolete paramyloidosis" "" "true" + "obsolete adenylosuccinase lyase deficiency" "" "true" + "obsolete ARC syndrome" "" "true" + "obsolete neuroacanthocytosis" "" "true" + "midface dysplasia" "" + "autosomal dominant polycystic liver disease" "An autosomal dominant inherited condition characterized by many cysts of various sizes scattered throughout the liver." "" + "paraganglioma" "A benign or malignant neoplasm arising from paraganglia located along the sympathetic or parasympathetic nerves. Infrequently, it may arise outside the usual distribution of the sympathetic and parasympathetic paraganglia. Tumors arising from the adrenal gland medulla are called pheochromocytomas. Morphologically, paragangliomas usually display a nesting (Zellballen) growth pattern. There are no reliable morphologic criteria to distinguish between benign and malignant paragangliomas. The only definitive indicator of malignancy is the presence of regional or distant metastases." "" + "autonomic nervous system neoplasm" "Benign and malignant neoplasms which arise from or directly involve the central or peripheral elements of the autonomic nervous system." "" + "neurocristopathy" "That disease that arises from defects in the development of tissues containing cells commonly derived from the embryonic neural crest cell lineage." "" + "inherited neuroendocrine tumor" "An instance of neuroendocrine neoplasm that is caused by an inherited modification of the individual's genome." "" + "obsolete Opitz-GBBB syndrome" "" "true" + "secondary progressive multiple sclerosis" "A multiple sclerosis with a clinical course characterized by a progressive accumulation of neurological disability, independent of relapses, following an initial relapsing-remitting (RR) phase." "" + "chronic progressive multiple sclerosis" "A form of multiple sclerosis characterized by a progressive deterioration in neurologic function which is in contrast to the more typical relapsing remitting form. If the clinical course is free of distinct remissions, it is referred to as primary progressive multiple sclerosis. When the progressive decline is punctuated by acute exacerbations, it is referred to as progressive relapsing multiple sclerosis. The term secondary progressive multiple sclerosis is used when relapsing remitting multiple sclerosis evolves into the chronic progressive form. (From Ann Neurol 1994;36 Suppl:S73-S79; Adams et al., Principles of Neurology, 6th ed, pp903-914)" "" + "primary progressive multiple sclerosis" "A multiple sclerosis that is characterized by steady worsening of neurologic functioning, without any distinct relapses or periods of remission. The rate of progression may vary over time, with occasional plateaus or temporary improvements, but the progression is continuous." "" + "progressive relapsing multiple sclerosis" "A multiple sclerosis that is characterized by steadily worsening symptoms and attacks during periods of remission with disease progression from the onset." "" + "short QT syndrome" "A genetic disease of the electrical system of the heart that consists of a constellation of signs and symptoms, consisting of a short QT interval on an EKG (< 300 ms) that does not significantly change with heart rate, tall and peaked T waves, and a structurally normal heart. Short QT syndrome appears to be inherited in an autosomal dominant pattern, and a few affected families have been identified" "" + "heart conduction disease" "A disease that has its basis in the disruption of the heart's electrical conduction system." "" + "obsolete multiple synostoses syndrome" "" "true" + "cone dystrophy" "An inherited ocular disorder characterized by the loss of cone cells, the photoreceptors responsible for both central and color vision." "" + "cerebral creatine deficiency syndrome" "Creatine deficiency syndrome (CDS) comprises a group of inborn errors of creatine metabolism, characterized by a global developmental delay, intellectual disability and associated neurological (seizures, movement disorders, myopathy) and behavioral manifestions. CDS includes two creatine biosynthesis disorders; guanidinoacetate methyltransferase deficiency and L- Arginine: glycine amidinotransferase deficiency, as well as X-linked creatine transporter deficiency." "" + "inherited amino acid metabolic disorder" "An inherited disorder that affects the metabolism of the amino acids. Representative examples include alkaptonuria, homocystinuria, tyrosinemia, and phenylketonuria." "" + "energy metabolism disorder with epilepsy" "True" + "cerebral organic aciduria" "A inherited organic acidemia that involves the brain." "" + "classical glioblastoma" "A molecular subtype of glioblastoma characterized by lack of p53 mutations, chromosome 7 amplifications or deletions, and high levels of EGFR amplification." "" + "glioblastoma" "The most malignant astrocytic tumor (WHO grade IV). It is composed of poorly differentiated neoplastic astrocytes and it is characterized by the presence of cellular polymorphism, nuclear atypia, brisk mitotic activity, vascular thrombosis, microvascular proliferation and necrosis. It typically affects adults and is preferentially located in the cerebral hemispheres. It may develop from diffuse astrocytoma WHO grade II or anaplastic astrocytoma (secondary glioblastoma, IDH-mutant), but more frequently, it manifests after a short clinical history de novo, without evidence of a less malignant precursor lesion (primary glioblastoma, IDH- wildtype). (Adapted from WHO)" "" + "proneural glioblastoma" "A molecular subtype of glioblastoma that is associated with younger age at presentation and is characterized by p53 mutations and PDGFRa amplifications." "" + "mesenchymal glioblastoma" "A molecular subtype of glioblastoma characterized by the presence of NF1 mutations." "" + "neural glioblastoma" "A molecular subtype of glioblastoma characterized by the expression of the neural markers NEFL, GABRA1, SYT1, and SLC12A5." "" + "nutritional biotin deficiency" "" + "biotin metabolic disease" "A deficiency in biotin through either inherited or acquired causes." "" + "vitamin deficiency disorder" "A disorder that is caused by the deficiency of a vitamin. The deficiency may result from either suboptimal vitamin intake or conditions that prevent the vitamin's use or absorption in the body. Representative examples include beriberi caused by thiamine deficiency, scurvy caused by vitamin C deficiency, and rickets caused by vitamin D deficiency." "" + "eye adnexa disease" "A disease involving the ocular adnexa." "" + "disease of orbital region" "A disease that involves the orbital region." "" + "Ochoa syndrome" "Ochoa syndrome is characterized by the association of severe voiding dysfunction and a characteristic facial expression." "" + "syndromic renal or urinary tract malformation" "A renal or urinary tract malformation that is part of a larger syndrome." "" + "obsolete Stargardt disease" "" "true" + "atrioventricular block" "A heart block that is initiated in the atrioventricular node." "" + "atrioventricular dissociation" "Impaired conduction of cardiac impulse that can occur anywhere along the conduction pathway, such as between the sinoatrial node and the right atrium (sa block) or between atria and ventricles (av block). Heart blocks can be classified by the duration, frequency, or completeness of conduction block. Reversibility depends on the degree of structural or functional defects." "" + "first-degree atrioventricular block" "A disorder characterized by an electrocardiographic finding of prolonged PR interval for a specific population. For adults one common threshold is a PR interval greater than 0.20 seconds." "" + "genetic cardiac rhythm disease" "An instance of cardiac rhythm disease that is caused by a modification of the individual's genome." "" + "second-degree atrioventricular block" "Intermittent failure of atrial electrical impulse conduction to the ventricles." "" + "third-degree atrioventricular block" "A disorder characterized by an electrocardiographic finding of complete failure of atrial electrical impulse conduction to the ventricles. This is manifested on the ECG by disassociation of atrial and ventricular rhythms. The atrial rate must be faster than the ventricular rate. (CDISC)" "" + "sinoatrial node disease" "A disease involving the sinoatrial node." "" + "conduction system disorder" "A disease involving the conducting system of heart." "" + "endocardium disease" "A disease involving the endocardium." "" + "heart disease" "A disease involving the heart and/or pericardium." "" + "tricuspid valve disease" "A disease involving the tricuspid valve." "" + "heart valve disease" "A disease involving the cardial valve." "" + "obsolete rheumatic heart disease" "" "true" + "arterial disorder" "An impairment of the structure or function of the blood vessels which carry blood away from the heart." "" + "vascular disease" "A general term used to describe any disease affecting blood vessels]. It includes vascular abnormalities caused by degenerative, metabolic and inflammatory conditions, embolic diseases, coagulative disorders, and functional disorders such as posteri or reversible encephalopathy syndrome." "" + "pericardium disease" "A disease involving the pericardium." "" + "obsolete pyrimidine metabolic disorder" "" "true" + "generalized dystonia" "" + "dystonic disorder" "A movement disorder characterized by sustained or intermittent muscle contractions, resulting in abnormal movements and/or postures." "" + "focal dystonia" "A dystonia that is localized to a specific part of the body." "" + "multifocal dystonia" "A dystonia that involves two or more unrelated body parts." "" + "segmental dystonia" "A dystonia that affects two or more adjacent parts of the body." "" + "anismus" "A focal dystonia of the pelvic floor muscles during attempted defecation." "" + "skeletal muscle disease" "A disease involving the skeletal muscle tissue." "" + "cervical dystonia" "Cervical dystonia is a neurological condition characterized by excessive pulling of the muscles of the neck and shoulder resulting in abnormal movements of the head (dystonia).Most commonly, the head turns to one side or the other.Tilting sideways, or to the back or front may also occur.The turning or tilting movements may be accompanied by shaking movement (tremor) and/or soreness of the muscles of the neck and shoulders.Cervical dystonia can occur at any age, but most cases occur in middle age. It often begins slowly and usually reaches a plateau over a few months or years. The cause of cervical dystonia is often unknown. In some cases there is a family history. Several genes have been associated with cervical dystonia, including GNAL, THAP1, CIZ1, and ANO3. Other cases may be linked to an underlying disease (e.g. Parkinson disease), neck trauma, or certain medications. Treatment may include local injections of botulinum toxin, pain medications, benzodiazepines (anti-anxiety medications), anticholinergics,physical therapy, or surgery." "" + "focal hand dystonia" "A focal dystonia that affects a single muscle or small group of muscles in the hand resulting from involuntary muscular contractions." "" + "oculogyric crisis" "A focal dystonia that is characterized by a prolonged involuntary upward deviation of the eyes." "" + "obsolete oromandibular dystonia" "" "true" + "spasmodic dystonia" "A chronic voice disorder characterized by momentary periods of uncontrolled spasms of the muscles of the larynx." "" + "laryngeal disease" "A non-neoplastic or neoplastic disorder that affects the larynx. Representative examples include laryngitis, vocal cord polyp, squamous papilloma, and carcinoma." "" + "craniofacial dystonia" "A focal dystonia that is characterized as dystonia that affects the muscles of the head, face, and neck." "" + "hemidystonia" "A multifocal dystonia that involves the arm and leg on the same side of the body." "" + "periampullary adenoma" "A adenoma that involves the periampullary region of duodenum." "" + "adenoma" "A neoplasm arising from the epithelium. It may be encapsulated or non-encapsulated but non-invasive. The neoplastic epithelial cells may or may not display cellular atypia or dysplasia. In the gastrointestinal tract, when dysplasia becomes severe it is sometimes called carcinoma in situ. Representative examples are pituitary gland adenoma, follicular adenoma of the thyroid gland, and adenomas (or adenomatous polyps) of the gastrointestinal tract." "" + "adenoma of small intestine" "A adenoma that involves the small intestine." "" + "tumor of duodenum" "A neoplasm (disease) that involves the duodenum." "" + "ampulla of vater neoplasm" "A benign or malignant neoplasm involving the ampulla of Vater." "" + "diabetic encephalopathy" "A brain disease that is characterized by functional impairment of cognition, cerebral signal conduction, neurotransmission and synaptic plasticity, and underlying structural pathology associated with diabetes." "" + "diabetes mellitus" "A metabolic disorder characterized by abnormally high blood sugar levels due to diminished production of insulin or insulin resistance/desensitization." "" + "glomerulosclerosis" "A hardening of the kidney glomerulus caused by scarring of the blood vessels." "" + "glomerular disease" "A disease involving the renal glomerulus." "" + "kidney failure" "An acute or chronic condition that is characterized by the inability of the kidneys to adequately filter the blood." "" + "limb ischemia" "A ischemia that involves the limb." "" + "ischemic disease" "Lack of blood supply to an area of the body, resulting in impairment of tissue oxygenation." "" + "limb disorder" "A disease or disorder that involves the limb." "" + "chronic venous insufficiency" "Chronic form of venous insufficiency (disease)." "" + "venous insufficiency" "Impaired venous blood flow or venous return (venous stasis), usually caused by inadequate venous valves. Venous insufficiency often occurs in the legs, and is associated with edema and sometimes with venous stasis ulcers at the ankle." "" + "obsolete Muckle-Wells syndrome" "" "true" + "renal fibrosis" "A final common manifestation of a wide variety of chronic kidney diseases characterized by glomerulosclerosis and tubulointerstitial fibrosis." "" + "oppositional defiant disorder" "A behavior disorder characterized by a persistent pattern of defiant, disobedient, and hostile behavior towards authority figures, manifested by a frequent loss of temper, arguing, becoming angry or vindictive, or other negativistic behaviors." "" + "hemorrhagic cystitis" "Inflammation of the bladder resulting in bloody urine." "" + "cystitis" "Inflammation of the urinary bladder." "" + "pyometritis" "Inflammation of uterine musculature associated with pus in the uterine cavity." "" + "uterine disease" "A non-neoplastic or neoplastic disorder that affects the uterine corpus or the cervix. Representative examples of non-neoplastic disorders include endometritis and cervicitis. Representative examples of neoplastic disorders include endometrial carcinoma, carcinosarcoma, and cervical carcinoma." "" + "arteritic anterior ischemic optic neuropathy" "An anterior ischemic neuropathy that is the cause of vision loss that occurs in temporal arteritis (aka giant cell arteritis)" "" + "anterior ischemic optic neuropathy" "Anterior ischemic optic neuropathy (AION) is an eye disease characterized by infarction of the optic disk leading to vision loss. It can be nonarteritic (nonarteritic anterior ischemic optic neuropathy or NAION) or arteritic, the latter being associated with giant cell arteritis (GCA; often termed temporal arteritis). Vision loss with both varieties is typically rapid (over minutes, hours, or days) and painless. Symptoms such as a general feeling of being unwell (malaise), muscle aches and pains, headaches over the temple, pain when combing hair, pain in the jaw after chewing, and tenderness over the temporal artery (one of the major arteries of the head) may be present with giant cell arteritis. At exam, visual acuity is reduced and the optic disc is swollen. In both subtypes, visual field examination is often reduced in the inferior and central visual fields. The visual loss is usually permanent, with some recovery possibly occurring within the first weeks or months. The arteritic variety is treated with corticosteroids. Treatment of the nonarteritic variety withaspirinor corticosteroids has not been helpful." "" + "temporal arteritis" "Giant cell arteritis (GCA) is a large vessel vasculitis predominantly involving the arteries originating from the aortic arch and especially the extracranial branches of the carotid arteries." "" + "non-arteritic anterior ischemic optic neuropathy" "" + "tongue squamous cell carcinoma" "A squamous cell carcinoma that arises from the tongue. It usually presents as a painful ulcerated or nodular lesion. The size of the tumor and the status of the lymph nodes are the most important factors that determine prognosis." "" + "squamous cell carcinoma" "A carcinoma arising from squamous epithelial cells. Morphologically, it is characterized by the proliferation of atypical, often pleomorphic squamous cells. Squamous cell carcinomas are graded by the degree of cellular differentiation as well, moderately, or poorly differentiated. Well differentiated carcinomas are usually associated with keratin production and the presence of intercellular bridges between adjacent cells. Representative examples are lung squamous cell carcinoma, skin squamous cell carcinoma, and cervical squamous cell carcinoma." "" + "tongue cancer" "A malignant neoplasm affecting the tongue. The vast majority of cases are carcinomas." "" + "oral cavity squamous cell carcinoma" "A squamous cell carcinoma arising from the oral cavity. It affects predominantly adults in their fifth and sixth decades of life and is associated with alcohol and tobacco use. Human papillomavirus is present in approximately half of the cases. It is characterized by a tendency to metastasize early to the lymph nodes. When the tumor is small, patients are often asymptomatic. Physical examination may reveal erythematous or white lesions or plaques. The majority of patients present with signs and symptoms of locally advanced disease including mucosal ulceration, pain, difficulty with speaking, chewing, and swallowing, bleeding, weight loss, and neck swelling. Patients may also present with swollen neck lymph nodes without any symptoms from the oropharyngeal tumor. The most significant prognostic factors are the size of the tumor and the lymph nodes status." "" + "obsolete Jensen syndrome" "" "true" + "villous adenoma" "An epithelial neoplasm morphologically characterized by the presence of a villous architectural pattern. Most often it occurs in the large intestine, small intestine, and the stomach in which the neoplastic epithelial cells show dysplastic features. It may also arise in the urinary bladder, urethra, and vagina." "" + "glandular cell neoplasm" "" + "lung adenocarcinoma in situ" "A localized non-invasive adenocarcinoma of the lung measuring 3 cm or less. It is characterized by a pure lepidic growth pattern and the lack of stromal, vascular, or pleural invasion." "" + "adenocarcinoma in situ" "A lesion in which the normally situated glands are partially or completely replaced by atypical cells with malignant characteristics." "" + "lung adenocarcinoma" "A carcinoma that arises from the lung and is characterized by the presence of malignant glandular epithelial cells. There is a male predilection with a male to female ratio of 2:1. Usually lung adenocarcinoma is asymptomatic and is identified through screening studies or as an incidental radiologic finding. If clinical symptoms are present they include shortness of breath, cough, hemoptysis, chest pain, and fever. Tobacco smoke is a known risk factor." "" + "obsolete follicular lymphoma" "" "true" + "obsolete small cell neuroendocrine carcinoma" "" "true" + "obsolete Caroli disease" "" "true" + "inclusion body myopathy with Paget disease of bone and frontotemporal dementia" "Inclusion body myopathy with Paget disease of bone and frontotemporal dementia (IBMPFD) is a multisystem degenerative genetic disorder characterized by adult-onset proximal and distal muscle weakness (clinically resembling limb-girdle muscular dystrophy); early-onset Paget disease of bone, manifesting with bone pain, deformity and enlargement of the long-bones; and premature frontotemporal dementia, manifesting first with dysnomia, dyscalculia and comprehension deficits followed by progressive aphasia, alexia, and agraphia. As the disease progresses, muscle weakness begins to affect the other limbs and respiratory muscles, ultimately resulting in respiratory or cardiac failure." "" + "syndromic disease" "A group of signs, symptoms, and clinicopathological characteristics that may or may not have a genetic basis and collectively define an abnormal condition." "" + "inclusion myopathy" "" + "frontotemporal dementia" "Frontotemporal dementia (FTD) comprises a group of neurodegenerative disorders, characterized by progressive changes in behavior, executive dysfunction and language impairment, as a result of degeneration of the medial prefrontal and frontoinsular cortices. Four clinical subtypes have been identified: semantic dementia, progressive non-fluent aphasia, behavioral variant FTD and right temporal lobar atrophy." "" + "primary bone dysplasia with disorganized development of skeletal components" "True" + "intellectual disability" "A broad category of disorders characterized by an impairment to the intelligence an individual possesses. These impairments can result from trauma, birth, or disease and are not restricted to any particular age group." "" + "has a syndromic presentation" "An characteristic of a disease in which the disease is not manifested as an isolated feature but has multiple distinct features." "" + "non-syndromic intellectual disability" "An intellectual disability that is not part of a larger syndrome." "" + "synucleinopathy" "A neurodegenerative disease that is characterized by the abnormal accumulation of aggregates of alpha-synuclein protein in neurons, nerve fibres or glial cells. [url:http://en.wikipedia.org/wiki/Synucleinopathies ]" "" + "neurodegenerative disease" "A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." "" + "obsolete gallbladder adenoma" "" "true" + "obsolete ameloblastoma" "" "true" + "bone ameloblastoma" "A ameloblastoma that involves the bone tissue." "" + "ameloblastoma" "The most common odontogenic tumor, arising from the epithelial component of the embryonic tooth and usually affecting the molar-ramus region of the mandible or maxilla. Although most ameloblastomas are morphologically and clinically benign, they may cause extensive local destruction, recur, or metastasize." "" + "bone benign neoplasm" "A neoplasm that arises from the bone or articular cartilage and does not invade adjacent tissues or metastasize to other anatomic sites." "" + "bone squamous cell carcinoma" "A squamous cell carcinoma that involves the bone tissue." "" + "bone chondrosarcoma" "A chondrosarcoma (disease) that involves the bone tissue." "" + "chondrosarcoma" "A malignant cartilaginous matrix-producing mesenchymal neoplasm arising from the bone and soft tissue. It usually affects middle-aged to elderly adults. The pelvic bones, ribs, shoulder girdle, and long bones are the most common sites of involvement. Most chondrosarcomas arise de novo, but some may develop in a preexisting benign cartilaginous lesion." "" + "bone cancer" "A primary or metastatic malignant neoplasm affecting the bone or articular cartilage." "" + "phalanx chondroma" "A chondroma that involves the phalanx." "" + "chondroma" "A benign well circumscribed neoplasm of hyaline cartilage arising from bone or soft tissue. It is characterized by the presence of chondrocytes." "" + "brain stem medulloblastoma" "A medulloblastoma that involves the brainstem." "" + "medulloblastoma" "A malignant, invasive embryonal neoplasm arising from the cerebellum. It occurs predominantly in children and has the tendency to metastasize via the cerebrospinal fluid pathways. Signs and symptoms include truncal ataxia, disturbed gait, lethargy, headache, and vomiting. There are four histologic variants: classic medulloblastoma, large cell/anaplastic medulloblastoma, desmoplastic/nodular medulloblastoma, and medulloblastoma with extensive nodularity." "" + "brainstem neoplasm" "A neoplasm (disease) that involves the brainstem." "" + "brainstem cancer" "A primary or metastatic malignant neoplasm that affects the brain stem." "" + "sacrum chordoma" "A chordoma (disease) that involves the fused sacrum." "" + "chordoma" "Chordomas are rare malignant tumors arising from embryonic remnants of the notochord in axial skeleton." "" + "spinal chordoma" "A slow-growing malignant bone tumor arising from the remnants of the notochord and occurring in the spine. It is characterized by a lobulated growth pattern, myxoid stroma formation, and the presence of physaliphorous cells." "" + "corpus callosum oligodendroglioma" "A oligodendroglioma that involves the corpus callosum." "" + "oligodendroglioma" "A well-differentiated (WHO grade II), diffusely infiltrating neuroglial tumor, typically located in the cerebral hemispheres. It is composed predominantly of cells which morphologically resemble oligodendroglia. The neoplastic cells have rounded homogeneous nuclei and, on paraffin sections, a swollen, clear cytoplasm ('honeycomb' appearance). (Adapted from WHO)" "" + "brain oligodendroglioma" "A oligodendroglioma that involves the brain." "" + "cerebral hemisphere cancer" "A cancer that involves the cerebral hemisphere." "" + "parietal lobe ependymal tumor" "An ependymal tumor affecting the parietal lobe of the brain." "" + "ependymal tumor" "A group of neoplasms which arise from the ependymal lining of the cerebral ventricles and from the remnants of the central canal of the spinal cord. Ependymal tumors occur predominantly in children and young adults with varied morphological features and biological behavior. There are 4 types: ependymoma, anaplastic ependymoma, myxopapillary ependymoma and subependymoma. (WHO)" "" + "parietal lobe cancer" "A malignant neoplasm involving the parietal lobe" "" + "ependymal tumor of brain" "A tumor arising from the ependymal lining of the ventricles." "" + "salivary gland carcinoma" "A carcinoma that arises from the major or minor salivary glands. Representative examples include carcinoma ex pleomorphic adenoma, adenocarcinoma, adenoid cystic carcinoma, and mucoepidermoid carcinoma." "" + "salivary gland cancer" "A primary or metastatic malignant neoplasm that affects the major or minor salivary glands. Representative examples include carcinoma, lymphoma, and sarcoma." "" + "obsolete inflammatory myofibroblastic tumor" "" "true" + "obsolete conjunctival nevus" "" "true" + "mixed extragonadal germ cell cancer" "A mixed germ cell cancer that is located in areas of the body other than the ovary or testicle." "" + "extragonadal germ cell cancer" "A malignant germ cell tumor that develops as a primary tumor in an anatomic site other than the testis or ovary." "" + "mixed germ cell tumor" "A malignant germ cell tumor characterized by the presence of at least two different germ cell components. The different germ cell components include choriocarcinoma, embryonal carcinoma, yolk sac tumor, teratoma, and seminoma. It occurs in the ovary, testis, and extragonadal sites including central nervous system and mediastinum." "" + "cecum villous adenoma" "A neoplasm that arises from the glandular epithelium of the cecal mucosa. It is characterized by a villous architectural pattern. The neoplastic glandular cells have dysplastic features." "" + "cecal neoplasm" "A benign or malignant neoplasm that affects the cecum. Representative examples of benign neoplasms include lipoma and leiomyoma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and sarcoma. Cecal adenomas always exhibit epithelial dysplasia and are considered premalignant neoplasms." "" + "villous adenoma of colon" "A villous adenoma that involves the colon." "" + "obsolete appendix carcinoid tumor" "A carcinoid tumor (disease) that involves the vermiform appendix." "" "true" + "colon adenoma" "An adenoma that arises from the colon. The group of colonic adenomas includes tubular, villous, and tubulovillous adenomas, traditional serrated adenomas, sessile serrated adenomas/polyps, and familial adenomatous polyposis." "" + "colorectal adenoma" "An adenoma that arises from the colon or rectum. The group of colorectal adenomas includes tubular, villous, and tubulovillous adenomas, traditional serrated adenomas, sessile serrated adenomas/polyps, and familial adenomatous polyposis." "" + "epithelial tumor of colon" "A epithelial neoplasm that involves the colon." "" + "benign colon neoplasm" "A non-metastasizing neoplasm arising from the wall of the colon." "" + "" "true" + "colorectal adenocarcinoma" "The most common type of colorectal carcinoma. It is characterized by the presence of malignant glandular epithelial cells invading through the muscularis mucosa into the submucosa. Histologic variants include mucinous adenocarcinoma, signet ring cell carcinoma, medullary carcinoma, serrated adenocarcinoma, cribriform comedo-type adenocarcinoma, and micropapillary adenocarcinoma." "" + "" "true" + "rectum adenoma" "An adenoma that arises from the rectum. The group of rectal adenomas includes tubular, villous, and tubulovillous adenomas, traditional serrated adenomas, sessile serrated adenomas/polyps, and familial adenomatous polyposis." "" + "epithelial neoplasm of rectum" "A epithelial neoplasm that involves the rectum." "" + "bronchus mucoepidermoid carcinoma" "A mucoepidermoid carcinoma that involves the bronchus." "" + "mucoepidermoid carcinoma" "A carcinoma morphologically characterized the presence of cuboidal mucous cells, goblet-like mucous cells, squamoid cells, cystic changes, and a fibrotic stromal formation. It can occur in several anatomic sites, including parotid gland, oral cavity, paranasal sinus, skin, breast, lung, larynx, and lacrimal ducts. It is classified as low or high grade." "" + "pulmonary mucoepidermoid carcinoma" "A lung carcinoma characterized by the presence of malignant non-keratinizing squamoid cells, mucin-producing cells and intermediate type cells." "" + "lung combined type small cell adenocarcinoma" "A lung combined type small cell carcinoma that has material basis in epithelial tissue of glandular origin." "" + "combined small cell lung carcinoma" "A morphologic variant of small cell lung carcinoma in combination with a non-small cell carcinoma." "" + "adenocarcinoma" "A common cancer characterized by the presence of malignant glandular cells. Morphologically, adenocarcinomas are classified according to the growth pattern (e.g., papillary, alveolar) or according to the secreting product (e.g., mucinous, serous). Representative examples of adenocarcinoma are ductal and lobular breast carcinoma, lung adenocarcinoma, renal cell carcinoma, hepatocellular carcinoma (hepatoma), colon adenocarcinoma, and prostate adenocarcinoma." "" + "obsolete vaginal carcinoma" "" "true" + "trachea mucoepidermoid carcinoma" "A mucoepidermoid carcinoma that involves the trachea." "" + "trachea carcinoma" "A carcinoma that arises from epithelial cells of the trachea." "" + "tonsil squamous cell carcinoma" "A squamous cell carcinoma that involves the tonsil." "" + "tonsil carcinoma" "A carcinoma that involves the tonsil." "" + "oropharynx squamous cell carcinoma" "A squamous cell carcinoma that involves the oropharynx." "" + "pharyngeal squamous cell carcinoma" "A squamous cell carcinoma that arises from the pharynx." "" + "pharynx cancer" "A primary or metastatic malignant neoplasm that affects the pharynx." "" + "head and neck squamous cell carcinoma" "A squamous cell carcinoma that arises from any of the following anatomic sites: lip and oral cavity, nasal cavity, paranasal sinuses, pharynx, larynx, and salivary glands." "" + "obsolete gastrointestinal carcinoma" "" "true" + "obsolete spindle epithelial tumor with thymus-like differentiation tumor" "" "true" + "striated muscle rhabdoid tumor" "A rhabdoid tumor that involves the striated muscle tissue." "" + "rhabdoid tumor" "An aggressive malignant embryonal neoplasm usually occurring during childhood. It is characterized by the presence of large cells with abundant cytoplasm, large eccentric nucleus, and a prominent nucleolus and it is associated with abnormalities of chromosome 22. It can arise from the central nervous system, kidney, and the soft tissues. The prognosis is poor." "" + "muscle tissue disease" "A disease involving the muscle tissue." "" + "muscle cancer" "A malignant neoplasm affecting the skeletal or smooth muscles. Malignant neoplasms arising from the skeletal muscles are called rhabdomyosarcomas. Malignant neoplasms arising from the smooth muscles are called leiomyosarcomas." "" + "small intestinal neuroendocrine tumor G1" "A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the small intestine. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent." "" + "tumor grade 1, general grading system" "A morphologic qualifier indicating that a cancerous lesion is well differentiated." "" + "small intestine neuroendocrine tumor, well differentiated, low or intermediate grade" "A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the small intestine." "" + "intestinal neuroendocrine tumor G1" "A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the small or large intestine. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent." "" + "jejunal adenocarcinoma" "A adenocarcinoma that involves the jejunum." "" + "small intestine adenocarcinoma" "An adenocarcinoma that arises from the small intestine. Histologic variants include mucinous adenocarcinoma and signet ring cell carcinoma." "" + "jejunal cancer" "A malignant neoplasm involving the jejunum." "" + "obsolete duodenum adenoma" "" "true" + "ovarian melanoma" "A melanoma (disease) that involves the ovary." "" + "metastatic melanoma" "A melanoma that has spread from its primary site to another anatomic site. Melanomas frequently metastasize to lymph nodes, liver, lungs, and brain." "" + "ovarian neuroendocrine neoplasm" "An epithelial neoplasm with neuroendocrine differentiation that arises from the ovary. It includes carcinoid tumor, small cell carcinoma pulmonary type, and large cell neuroendocrine carcinoma." "" + "mucosal melanoma" "A melanoma that arises from a mucosal site." "" + "melanoma" "A malignant, usually aggressive tumor composed of atypical, neoplastic melanocytes. Most often, melanomas arise in the skin (cutaneous melanomas) and include the following histologic subtypes: superficial spreading melanoma, nodular melanoma, acral lentiginous melanoma, and lentigo maligna melanoma. Cutaneous melanomas may arise from acquired or congenital melanocytic or dysplastic nevi. Melanomas may also arise in other anatomic sites including the gastrointestinal system, eye, urinary tract, and reproductive system. Melanomas frequently metastasize to lymph nodes, liver, lungs, and brain." "" + "non-cutaneous melanoma" "Melanoma is a malignant tumor of melanocytes, cells that are derived from the neural crest. Although most melanomas arise in the skin, they also may arise from mucosal surfaces or at other sites to which neural crest cells migrate. (PDQ)" "" + "sublingual gland adenoid cystic carcinoma" "A adenoid cystic carcinoma that involves the sublingual gland." "" + "adenoid cystic carcinoma" "A malignant tumor arising from the epithelial cells. Microscopically, the neoplastic epithelial cells form cylindrical spatial configurations (cribriform or classic type of adenoid cystic carcinoma), cordlike structures (tubular type of adenoid cystic carcinoma), or solid structures (basaloid variant of adenoid cystic carcinoma). Adenoid cystic carcinomas mostly occur in the salivary glands. Other primary sites of involvement include the lacrimal gland, the larynx, and the lungs. Adenoid cystic carcinomas spread along nerve sheaths, resulting in severe pain, and they tend to recur. Lymph node metastases are unusual; hematogenous tumor spread is characteristic." "" + "sublingual gland carcinoma" "A carcinoma that arises from the sublingual gland. Representative examples include cystadenocarcinoma and mucoepidermoid carcinoma." "" + "major salivary gland adenoid cystic carcinoma" "An aggressive carcinoma that arises from the major salivary glands. It is characterized by the presence of malignant epithelial and myoepithelial cells forming cribriform, tubular, and solid patterns. It usually presents as a slow growing mass. Patients develop pain because of the tendency of these carcinomas to invade perineural tissues." "" + "obsolete parotid gland adenoid cystic carcinoma" "" "true" + "obsolete ovarian serous carcinoma" "" "true" + "ovarian clear cell cancer" "An invasive malignant neoplasm that arises from the ovary and is characterized by a predominance of clear and hobnail malignant epithelial cells." "" + "malignant epithelial tumor of ovary" "An invasive malignant tumor that originates from the surface epithelium of the ovary. It is composed of malignant epithelial cells and stroma. Representative examples include serous adenocarcinoma, mucinous adenocarcinoma, endometrioid adenocarcinoma, clear cell adenocarcinoma, and malignant Brenner tumor." "" + "ovarian clear cell tumor" "A benign, borderline, or malignant epithelial tumor of the ovary that is characterized by a predominance of clear and hobnail cells." "" + "cervical neuroblastoma" "A relatively uncommon neuroblastoma that is found in the neck." "" + "neuroblastoma" "Neuroblastoma (NB) is the most common solid, extracranial childhood tumor. It is an aggressive pediatric cancer that originates from neural crest tissues of the sympathetic nervous system." "" + "extracranial neuroblastoma" "A neuroblastoma arising from an anatomic site other than the brain." "" + "neoplasm of neck" "A neoplasm (disease) that involves the neck." "" + "extra-adrenal sympathetic paraganglioma" "A benign or malignant sympathetic paraganglioma arising from paraganglia outside the adrenal gland. Clinical symptoms are related to secretion of catecholamines. Representative examples include the superior and inferior paraaortic and bladder paragangliomas." "" + "sympathetic paraganglioma" "A benign or malignant paraganglioma arising from the chromaffin cells of the paraganglia that are located along the sympathetic nerves. It includes extra-adrenal paragangliomas and paragangliomas that arise from the adrenal medulla. The latter are commonly referred to as pheochromocytomas. Representative examples of extra-adrenal sympathetic paragangliomas include the bladder, and superior and inferior paraaortic paragangliomas. Clinical signs are related to the secretion of catecholamines resulting in hypertension." "" + "retroperitoneal neuroblastoma" "A neuroblastoma that involves the retroperitoneal space." "" + "retroperitoneal neoplasm" "A benign or malignant neoplasm that affects the retroperitoneum." "" + "breast lobular carcinoma" "An adenocarcinoma of the breast arising from the lobules. This is a relatively uncommon carcinoma, represents approximately 10% of the breast adenocarcinomas and is often bilateral or multifocal." "" + "breast adenocarcinoma" "A carcinoma that arises from glandular epithelial cells of the breast" "" + "uterine corpus endometrial carcinoma" "A endometrial carcinoma (disease) that involves the body of uterus." "" + "endometrial carcinoma" "A malignant tumor arising from the epithelium that lines the cavity of the uterine body. The vast majority of endometrial carcinomas are adenocarcinomas; squamous cell and adenosquamous carcinomas represent a minority of the cases. Endometrioid adenocarcinoma is the most frequently seen variant of endometrial adenocarcinoma. Uterine bleeding is an initial clinical sign. The prognosis depends on the stage of the tumor, the depth of myometrial wall invasion, and the degree of differentiation." "" + "uterine corpus cancer" "A malignant neoplasm involving the body of uterus." "" + "endocervical adenocarcinoma" "An adenocarcinoma that arises from the endocervix. It is the most common type of endocervical adenocarcinoma. The neoplastic epithelium shows a pseudostratified architecture and the malignant cells have enlarged, elongated, and hyperchromatic nuclei." "" + "endocervical carcinoma" "A carcinoma that arises from epithelial cells of the endocervix." "" + "cervical adenocarcinoma" "An adenocarcinoma arising from the cervical epithelium. It accounts for approximately 15% of invasive cervical carcinomas. Increased numbers of sexual partners and human papillomavirus (HPV) infection are risk factors. Grossly, advanced cervical adenocarcinoma may present as an exophytic mass, an ulcerated lesion, or diffuse cervical enlargement. Microscopically, the majority of cervical adenocarcinomas are of the endocervical (mucinous) type." "" + "obsolete autosomal recessive hypophosphatemic rickets" "" "true" + "obsolete autosomal recessive cerebellar ataxia" "" "true" + "obsolete hereditary ataxia" "" "true" + "obsolete spastic ataxia" "" "true" + "" "true" + "X-linked cerebellar ataxia" "X-linked form of cerebellar ataxia." "" + "obsolete spinocerebellar ataxia type 4" "" "true" + "spinocerebellar ataxia type 16" "An autosomal recessive form of spinocerebellar ataxia caused by mutation(s) in the STUB1 gene, encoding E3 ubiquitin-protein ligase CHIP." "" + "autosomal dominant cerebellar ataxia" "Autosomal dominant cerebellar ataxia (ADCA) describes a clinically and genetically heterogeneous group of neurodegenerative diseases characterized by a slowly progressive ataxia of gait, stance and limbs, dysarthria and/or oculomotor disorder, due to cerebellar degeneration in the absence of coexisting diseases. The degenerative process can be limited to the cerebellum (ADCA type 3) or may additionally involve the retina (ADCA type 2), optic nerve, ponto-medullary systems, basal ganglia, cerebral cortex, spinal tracts or peripheral nerves (ADCA type 1). In ACDA type 4, a cerebellar syndrome is associated with epilepsy." "" + "obsolete hypomyelinating leukoencephalopathy" "" "true" + "GRID2-related autosomal dominant spinocerebellar ataxia" "" + "obsolete cerebellar ataxia, mental retardation and dysequlibrium syndrome" "" "true" + "infective endocarditis" "Infective endocarditis (IE) is an infection of the inner lining of the heart chambers (endocardium) and valves. This condition is sometimes called 'endocarditis,' although it is important to distinguish it from non-infective endocarditis. IE is caused bybacteria, fungi, or other germs invading the bloodstream and attaching to the heart. IE can damagethe heart and cause serious and sometimes fatal complications. It can develop quickly or slowly depending on what type of germ is causing it and whether there is an underlying heart problem. Common symptoms of IE are fever and other flu-like symptoms, but signs and symptoms can vary. It can also cause problems in many other parts of the body besides the heart. IE is typically treated with antibiotics for several weeks; some individuals may need heart surgery to repair or replace heart valves or remove infected heart tissue." "" + "endocarditis" "Inflammation of the endocardium." "" + "obsolete substance withdrawal disorder" "" "true" + "obsolete C1 inhibitor deficiency" "" "true" + "autoimmune disease of central nervous system" "A hypersensitivity reaction type II disease that involves the central nervous system." "" + "central nervous system disease" "A disease involving the central nervous system." "" + "autoimmune disease of the nervous system" "A disorder characterized by the degeneration of the nervous system due to autoimmunity. Representative examples include multiple sclerosis, Guillain-Barre syndrome, and myasthenia gravis." "" + "autoimmune disease of endocrine system" "A hypersensitivity reaction type II disease that involves the endocrine system." "" + "endocrine system disease" "A disease involving the endocrine system." "" + "obsolete severe combined immunodeficiency due to artemis deficiency" "" "true" + "obsolete CD3zeta deficiency" "" "true" + "recombinase activating gene 1 deficiency" "A severe combined immunodeficiency that is the result of a mutation on Chromosome 6 RAG1 gene involving genetic rearrangement of both the T- and B-lymphocyte receptor genes." "" + "severe combined immunodeficiency" "Severe combined immunodeficiency (SCID) comprises a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes resulting in early-onset severe respiratory infections and failure to thrive. They are classified according to immunological phenotype into SCID with absence of T cells but presence of B cells (T-B+ SCID) or SCID with absence of both (T-B- SCID). Both of these groups include several forms, with or without natural killer (NK) cells." "" + "recombinase activating gene 2 deficiency" "A severe combined immunodeficiency that is the result of a mutation on Chromosome 6 RAG2 gene involving genetic rearrangement of both the T- and B-lymphocyte receptor genes." "" + "obsolete CD45 deficiency" "" "true" + "" "true" + "T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency" "A severe combined immunodeficiency that results from defective IL7R expression causes T-B+NK+ SCID. Loss of IL-7R function leads to the loss of an antiapoptotic signal, resulting in a loss of T-cell selection in thymus." "" + "obsolete CD3delta deficiency" "" "true" + "congenital anemia" "Anemia, the cause of which is present at birth." "" + "congenital" "A characteristic of a disease in which the disease is present at birth, regardless of cause." "" + "congenital hematological disorder" "A disorder of the blood that is present at birth." "" + "obsolete CD3gamma deficiency" "" "true" + "obsolete coronin-1A deficiency" "" "true" + "obsolete CD40 ligand deficiency" "" "true" + "obsolete lambda 5 deficiency" "" "true" + "obsolete immunoglobulin alpha deficiency" "" "true" + "immunoglobulin beta deficiency" "" + "B cell deficiency" "A broad classification of disorders where circulating numbers of B lymphocytes are decreased or ineffective. Complement components and the production of antibodies may also be deficient." "" + "B cell linker protein deficiency" "A hypobammaglobulinemia that is a B cell deficiency that has material basis in a mutation in a cytoplasmic linker or adaptor protein that plays a critical role in B cell development, the B cell linker protein (BLNK) gene. Mutations in this gene cause hypoglobulinemia and absent B cells, a disease in which the pro- to pre-B-cell transition is developmentally blocked. The BLNK gene is associated with intracellular calcium mobilization, essential for cell activation." "" + "agammaglobulinemia" "A decreased level of serum immunoglobulins. It may be inherited or acquired. It is caused by decreased or inefficient production of immunoglobulins from B cells or by a decrease in the numbers of B cells themselves. Low levels of immunoglobulins will affect the immune system's ability to combat bacterial infection. Supplementation of immunoglobulins is needed to prevent worsening outcomes." "" + "obsolete Good syndrome" "" "true" + "autoimmune disease of exocrine system" "A hypersensitivity reaction type II disease that involves the exocrine system." "" + "autoimmune disease of ear, nose and throat" "An autoimmune form of otorhinolaryngologic disease." "" + "otorhinolaryngologic disease" "Pathological processes of the ear, the nose, and the throat, also known as the ENT diseases." "" + "autoimmune disease of gastrointestinal tract" "A hypersensitivity reaction type II disease that involves the alimentary part of gastrointestinal system." "" + "autoimmune disease of musculoskeletal system" "A hypersensitivity reaction type II disease that involves the musculoskeletal system." "" + "musculoskeletal system disease" "A disease involving the musculoskeletal system." "" + "autoimmune disease of peripheral nervous system" "A hypersensitivity reaction type II disease that involves the peripheral nervous system." "" + "peripheral nervous system disease" "A disease involving the peripheral nervous system." "" + "intrinsic cardiomyopathy" "A cardiomyopathy that is due to abnormalities in heart muscle cells." "" + "extrinsic cardiomyopathy" "A cardiomyopathy that is not due to abnormalities in heart muscle cells." "" + "developmental disorder of mental health" "A disease of mental health that occur during a child's developmental period between birth and age 18 resulting in retarding of the child's psychological or physical development." "" + "pervasive developmental disorder" "A category of developmental disorders characterized by impaired communication and socialization skills. The impairments are incongruent with the individual's developmental level or mental age. These disorders can be associated with general medical or genetic conditions." "" + "obsolete autoimmune disease of skin and connective tissue" "" "true" + "complex neurodevelopmental disorder" "A disorder that involves more than one phenotype associated with the central nervous system, including but not limited to intellectual disability, autism, and seizures (epilepsy)." "" + "sexual and gender identity disorders" "A category of psychiatric disorders characterized by a disturbance in sexual desire and in the psychophysiological changes that make up the sexual response cycle." "" + "psychiatric disorder" "A disorder characterized by behavioral and/or psychological abnormalities, often accompanied by physical symptoms. The symptoms may cause clinically significant distress or impairment in social and occupational areas of functioning. Representative examples include anxiety disorders, cognitive disorders, mood disorders and schizophrenia." "" + "paraphilic disorder" "Disorders that include recurrent, intense sexually arousing fantasies, sexual urges, or behaviors generally involving nonhuman objects, suffering of oneself or partners, or children or other nonconsenting partners. (from DSM-V)" "" + "psychosexual disorder" "" + "Munchausen by proxy" "A factitious disorder that involves a care giver's deliberate exaggeration, fabrication, and/or induce physical, psychological, behavioral, and/or mental health problems in others." "" + "factitious disorder" "A category of psychiatric disorders which are characterized by physical or psychological symptoms that are intentionally produced in order to assume the sick role; there is no external incentive for the behavior, such as economic gain or avoiding legal responsibility, and the person is unaware of any self-motivating factors." "" + "aphasia" "A language disorder that involves an acquired impairment of any laguage modality such as producting or comprehending spoken or written language." "" + "language disorder" "A category of disorders characterized by an impairment in the development of an individual's language capabilities, which is in contrast to his/her non-verbal intellect." "" + "mutism" "The inability to generate oral-verbal expression, despite normal comprehension of speech. This may be associated with brain diseases or mental disorders. Organic mutism may be associated with damage to the frontal lobe; brain stem; thalamus; and cerebellum. Selective mutism is a psychological condition that usually affects children characterized by continuous refusal to speak in social situations by a child who is able and willing to speak to selected persons. Kussmal aphasia refers to mutism in psychosis." "" + "writing disorder" "A learning disability that involves impaired written language ability such as impairments in handwriting, spelling, organization of ideas, and composition." "" + "learning disability" "A group of disorders that affect a person's ability to learn or process specific types of information which is in contrast to his/her apparent level of intellect." "" + "nosophobia" "A specific phobia that involves an irrational fear of contracting a disease." "" + "specific phobia" "An anxiety disorder characterized by an intense, irrational fear cued by the presence or anticipation of a specific object or situation. Exposure to the phobic stimulus immediately provokes an anxiety response. In adults, the specific phobia is recognized as excessive or unreasonable." "" + "autoimmune disease of urogenital tract" "A hypersensitivity reaction type II disease that involves the genitourinary system." "" + "disease of genitourinary system" "A disease that involves the genitourinary system." "" + "autoimmune disease of blood" "A hypersensitivity reaction type II disease that involves the blood." "" + "hematologic disease" "A disease involving the hematopoietic system." "" + "autoimmune disease of cardiovascular system" "A hypersensitivity reaction type II disease that involves the cardiovascular system." "" + "cardiovascular disease" "A disease involving the cardiovascular system." "" + "obsolete autonomic peripheral neuropathy" "" "true" + "hypersensitivity reaction disease" "An immune system disease that has basis in dysregulation of the hypersensitivity reaction, an inflammatory response to an exogenous environmental antigen or an endogenous antigen initiated by the adaptive immune system." "" + "immune system disease" "A disorder resulting from an abnormality in the immune system." "" + "obsolete gluten allergy" "A allergy involving gluten." "" "true" + "primary cutaneous T-cell non-Hodgkin lymphoma" "A T-cell non-Hodgkin lymphoma arising from the skin. Representative examples include mycosis fungoides and primary cutaneous anaplastic large cell lymphoma." "" + "primary cutaneous lymphoma" "Cutaneous lymphoma is a heterogeneous entity with respect to its clinical and pathological features, evolutive profile, prognosis, molecular aetiology and response to therapy. These specifications have been taken into account in recent classifications, which have placed particular importance on the prognostic implications of these different entities." "" + "familial juvenile hyperuricemic nephropathy" "" + "kidney disease" "A disease involving the kidney." "" + "obsolete sideroblastic anemia with spinocerebellar ataxia" "" "true" + "marantic endocarditis" "Formation of a non-infectious thrombus, referred to as vegetation, on previously undamaged endocardium. It usually occurs as a complication of connective-tissue diseases and cancers because of the associated hypercoagulable state (see thrombophilia)." "" + "thrombotic disease" "The formation of a blood clot in the lumen of a vessel or heart chamber; causes include coagulation disorders and vascular endothelial injury." "" + "blood coagulation disease" "A condition in which there is a deviation from or interruption of the normal coagulation properties of the blood." "" + "pre-malignant neoplasm" "A disease of cellular proliferation that results in abnormal growths in the body, which do not invade or destroy the surrounding tissue but, given enough time, will transform into a cancer." "" + "neoplasm" "A benign or malignant tissue growth resulting from uncontrolled cell proliferation. Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia. Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." "" + "precancerous condition" "A pathological process with signs indicating it may become cancerous. Representative examples include leukoplakia, dysplastic nevus, actinic keratosis, xeroderma pigmentosum, and intraepithelial neoplasia." "" + "lymphatic system cancer" "A malignant neoplasm involving the lymphatic part of lymphoid system" "" + "immune system cancer" "A malignant neoplasm involving the immune system" "" + "lymphatic system disease" "A disease involving the lymphatic part of lymphoid system." "" + "obsolete estrogen-receptor positive breast cancer" "" "true" + "obsolete estrogen-receptor negative breast cancer" "" "true" + "progesterone-receptor positive breast cancer" "" + "breast cancer" "A primary or metastatic malignant neoplasm involving the breast. The vast majority of cases are carcinomas arising from the breast parenchyma or the nipple. Malignant breast neoplasms occur more frequently in females than in males." "" + "breast carcinoma by gene expression profile" "A header term that includes the following breast carcinoma subtypes determined by gene expression profiling: luminal A breast carcinoma, luminal B breast carcinoma, HER2 positive breast carcinoma, basal-like breast carcinoma, triple-negative breast carcinoma, and normal breast-like subtype of breast carcinoma." "" + "progesterone-receptor negative breast cancer" "" + "obsolete Her2-receptor positive breast cancer" "" "true" + "Her2-receptor negative breast cancer" "" + "obsolete triple-receptor negative breast cancer" "" "true" + "breast benign neoplasm" "A non-metastasizing neoplasm arising from the breast parenchyma." "" + "thoracic benign neoplasm" "A non-metastasizing neoplasm arising from any of the organs of the thoracic cavity. Representative examples include pleural adenomatoid tumor, chest wall lipoma, mediastinal schwannoma, and lung hamartoma." "" + "breast neoplasm" "A benign or malignant neoplasm of the breast parenchyma. It can originate from the ducts, lobules or the breast adipose tissue. Breast neoplasms are much more common in females than males." "" + "obsolete cell type benign neoplasm" "" "true" + "obsolete organ system benign neoplasm" "" "true" + "benign female reproductive system neoplasm" "A non-metastasizing neoplasm that arises from the female reproductive system. Representative examples include uterine corpus leiomyoma, endocervical polyp, and benign ovarian germ cell tumor." "" + "female reproductive system neoplasm" "A benign, precancerous, or malignant neoplasm that affects the female reproductive system. Representative examples include uterine corpus leiomyoma, endocervical polyp, ovarian carcinoma, cervical carcinoma, and endometrial carcinoma." "" + "benign male reproductive system neoplasm" "A non-metastasizing neoplasm that arises from the male reproductive system. Representative examples include benign prostate phyllodes tumor, benign Sertoli cell tumor, seminal vesicle cystadenoma, and epididymal adenomatoid tumor." "" + "male reproductive system disease" "A disease involving the male reproductive system." "" + "vestibular gland benign neoplasm" "A benign neoplasm that involves the vestibular gland." "" + "vulvar benign neoplasm" "A non-metastasizing neoplasm that arises from the vulva. Representative examples include cellular angiofibroma, melanocytic nevus, nodular hidradenoma, and Bartholin gland adenoma." "" + "benign endocrine neoplasm" "A non-metastasizing, functioning or non-functioning neoplasm that arises from an endocrine organ. Representative examples include thyroid gland follicular adenoma and parathyroid gland adenoma." "" + "endocrine gland neoplasm" "A benign or malignant neoplasm arising from the epithelial cells of an endocrine organ. Representative examples include pituitary gland adenoma, pituitary gland carcinoma, thyroid gland carcinoma, carcinoid tumor, and neuroendocrine carcinoma." "" + "central nervous system organ benign neoplasm" "A benign neoplasm that involves the central nervous system." "" + "nervous system benign neoplasm" "Abnormal growth of cells in the nervous system without evidence of malignant characteristics. Unlike other organ systems, tumors in the central nervous system can have benign histological characteristics but still have life threatening effects due to their location within the neuraxis (e.g., brainstem gliomas)." "" + "central nervous system neoplasm" "A benign or malignant, primary or metastatic neoplasm that affects the brain, meninges, or spinal cord. Representative examples of primary neoplasms include astrocytoma, oligodendroglioma, ependymoma, and meningioma. Representative examples of metastatic neoplasms include carcinoma and leukemia." "" + "cardiovascular organ benign neoplasm" "A benign neoplasm that involves the cardiovascular system." "" + "cardiovascular neoplasm" "A benign or malignant neoplasm that affects the heart and/or vessels. Representative examples of benign neoplasms include atrial myxoma, hemangioma, and lymphangioma. Representative examples of malignant neoplasms include pericardial malignant mesothelioma and angiosarcoma." "" + "immune system organ benign neoplasm" "A benign neoplasm that involves the immune organ." "" + "benign connective and soft tissue neoplasm" "A non-metastasizing neoplasm that arises from the connective and soft tissue. Representative examples include lipoma, leiomyoma, fibroma, and osteoma." "" + "bone neoplasm" "A benign, intermediate, or malignant neoplasm involving the bone or articular cartilage." "" + "uterine benign neoplasm" "A non-metastasizing neoplasm that arises from the uterine corpus or the cervix. Representative examples include leiomyoma, adenomyoma, and endocervical polyp." "" + "tumor of uterus" "A neoplasm (disease) that involves the uterus." "" + "sensory organ benign neoplasm" "A benign neoplasm that involves the sense organ." "" + "neoplasm of thorax" "A neoplasm (disease) that involves the thoracic segment of trunk." "" + "obsolete osteoblastoma" "" "true" + "musculoskeletal system benign neoplasm" "A benign neoplasm that involves the musculoskeletal system." "" + "musculoskeletal system cancer" "A malignant neoplasm involving the musculoskeletal system" "" + "benign glioma" "A form of glioma without malignant characteristics." "" + "glioma" "A benign or malignant brain and spinal cord tumor that arises from glial cells (astrocytes, oligodendrocytes, ependymal cells). Tumors that arise from astrocytes are called astrocytic tumors or astrocytomas. Tumors that arise from oligodendrocytes are called oligodendroglial tumors. Tumors that arise from ependymal cells are called ependymomas." "" + "cartilage cancer" "A cancer involving a cartilage tissue." "" + "central nervous system primitive neuroectodermal neoplasm" "A neuroectodermal tumor that involves the central nervous system." "" + "primitive neuroectodermal tumor" "A malignant neoplasm that originates in the neuroectoderm. The neuroectoderm constitutes the portion of the ectoderm of the early embryo that gives rise to the central and peripheral nervous systems and includes some glial cell precursors." "" + "central nervous system cancer" "A malignant neoplasm involving the central nervous system" "" + "obsolete cerebellar medulloblastoma" "A cerebellum cancer that begins in the lower part of the brain on the floor of the skull." "" "true" + "brain meningioma" "A meningioma (disease) that involves the brain." "" + "meningioma" "A generally slow growing tumor attached to the dura mater. It is composed of neoplastic meningothelial (arachnoidal) cells. It typically occurs in adults, often women and it has a wide range of histopathological appearances. Of the various subtypes, meningothelial, fibrous and transitional meningiomas are the most common. Most meningiomas are WHO grade I tumors, and some are WHO grade II or III tumors. Most subtypes share a common clinical behavior, although some subtypes are more likely to recur and follow a more aggressive clinical course. (Adapted from WHO)" "" + "brain neoplasm" "A neoplasm (disease) that involves the brain." "" + "brain cancer" "A primary or metastatic malignant neoplasm affecting the brain." "" + "vulvar neoplasm" "A benign or malignant neoplasm that affects the vulva. Representative examples include Bartholin gland adenoma, vulvar nodular hidradenoma, vulvar carcinoma, and vulvar melanoma." "" + "cervical benign neoplasm" "A non-metastasizing neoplasm that arises from the cervix. Representative examples include squamous papilloma, endocervical polyp, and rhabdomyoma." "" + "uterine cervix neoplasm" "A neoplasm (disease) that involves the uterine cervix." "" + "fallopian tube benign neoplasm" "A non-metastasizing neoplasm that arises from the fallopian tube. Representative examples include papilloma, adenofibroma, and leiomyoma." "" + "fallopian tube neoplasm" "A benign or malignant neoplasm affecting the fallopian tube. Representative examples of benign neoplasms include papilloma, adenofibroma, and leiomyoma. Representative examples of malignant neoplasms include carcinoma, carcinosarcoma, and adenosarcoma." "" + "ovarian benign neoplasm" "A non-metastasizing neoplasm that arises from the ovary. Representative examples include serous cystadenoma, mucinous cystadenoma, clear cell adenofibroma, benign Brenner tumor, thecoma, and fibroma." "" + "ovarian neoplasm" "A benign, borderline, or malignant neoplasm involving the ovary." "" + "benign vaginal neoplasm" "A non-metastasizing neoplasm that arises from the vagina. Representative examples include squamous papilloma and melanocytic nevus." "" + "vaginal neoplasm" "A benign or malignant neoplasm affecting the vagina. Representative examples of benign neoplasms include squamous papilloma and melanocytic nevus. Representative examples of malignant neoplasms include carcinoma, melanoma, and sarcoma." "" + "nervous system neoplasm" "A neoplasm (disease) that involves the nervous system." "" + "sensory system cancer" "A malignant neoplasm involving the sensory system" "" + "nervous system cancer" "A primary or metastatic malignant neoplasm involving the nervous system." "" + "peritoneal benign neoplasm" "A non-metastasizing neoplasm that arises from the peritoneal cavity. Representative examples include adenomatoid tumor and disseminated peritoneal leiomyomatosis." "" + "peritoneal neoplasm" "A benign or malignant neoplasm that affects the peritoneal cavity. Representative examples of benign neoplasms include adenomatoid tumor and disseminated peritoneal leiomyomatosis. Representative examples of malignant neoplasms include primary peritoneal carcinoma, metastatic carcinoma to the peritoneum, and malignant mesothelioma." "" + "thoracic disease" "A non-neoplastic or neoplastic disorder that affects the thorax and/or the organs of the thoracic cavity. Representative examples include pleural infection, mediastinitis, thymoma, mediastinal lymphoma, and pleural mesothelioma." "" + "integumentary system benign neoplasm" "A benign neoplasm that involves the integumental system." "" + "integumentary system cancer" "A malignant neoplasm involving the integumental system" "" + "connective and soft tissue neoplasm" "A benign, intermediate, or malignant neoplasm that affects the connective and soft tissue." "" + "obsolete heavy chain disease" "" "true" + "obsolete alpha chain disease" "" "true" + "obsolete gamma heavy chain disease" "" "true" + "obsolete mu chain disease" "" "true" + "delta-heavy chain disease" "A heavy chain disease that results from an overproduction of delta antibody (IgD)." "" + "heavy chain disease" "Heavy-chain diseases (HCDs) are rare monoclonal lymphoplasma-cell proliferative disorders involving B cells and are characterized by the synthesis of truncated heavy chains without associated light chains." "" + "akinetopsia" "An agnosia that is a loss of motion perception." "" + "agnosia" "A rare disorder characterized by the lack of ability to recognize individuals, objects, shapes, sounds, or smells. There is no loss of memory. It is caused by neurological damage in the brain, specifically in the occipital or parietal lobes." "" + "neuromuscular disease" "Any disease that impairs the functioning of the muscles, either directly, being pathologies of the voluntary muscle, or indirectly, being pathologies of nerves or neuromuscular junctions" "" + "alexithymia" "An agnosia that is a deficiency in understanding, processing, or describing emotions." "" + "amusia" "An agnosia that is a loss of the ability to recognize musical notes, rhythms, and intervals." "" + "anosognosia" "An agnosia that is a loss of the ability to gain feedback about one's own condition or impairments." "" + "apperceptive agnosia" "An agnosia that is a loss of the ability to distinguish visual shapes." "" + "visual agnosia" "An inability to recognize or interpret objects by sight." "" + "apraxia" "Apraxia is a neurological disorder characterized by the inability to perform tasks or movements, despite having the desire and physical ability to perform them. It is caused by damage to the brain, especially the parietal lobe, and can arise from many diseases, tumors, a stroke, or traumatic brain injury. In some cases it is present from birth. There are several types of apraxia, which may occur alone or together. These include: Buccofacial or orofacial apraxia is the inability to carry out facial movements on demand. This may include licking the lips, sticking out the tongue, whistling, coughing, or winking. Ideational apraxia is the inability to carryout learned, complex tasks with multiple, sequential movements. This may include dressing, eating, and bathing. Ideomotor apraxia is the inability to perform a learned task (such as using a tool) or communicate using gestures (like waving good-bye). Limb-kinetic apraxia is the inability to make fine, precise movements with an arm or leg. This may include buttoning a shirt or tying a shoe. Verbal apraxia is difficulty coordinating mouth and speech movements. Verbal apraxia may be acquired or present from birth. Constructional apraxia is the inability to copy, draw, or construct simple figures. Oculomotor apraxia is difficulty moving the eyes on command. Treatment of apraxia may include physical, speech, or occupational therapy. If apraxia occurs as a symptom of another disorder, treatment should be directed to the underlying condition." "" + "perceptual disorders" "Cognitive disorders characterized by an impaired ability to perceive the nature of objects or concepts through use of the sense organs. These include spatial neglect syndromes, where an individual does not attend to visual, auditory, or sensory stimuli presented from one side of the body." "" + "associative visual agnosia" "An agnosia that is a loss of the ability to recognize visual scenes or classes of objects but retain the abilty to describe them." "" + "auditory agnosia" "An agnosia that is a loss of the ability to distinguishing environmental and non-verbal auditory cues including difficulty distinguishing speech from non-speech sounds even though hearing is usually normal." "" + "auditory perceptual disorders" "Acquired or developmental cognitive disorders of AUDITORY PERCEPTION characterized by a reduced ability to perceive information contained in auditory stimuli despite intact auditory pathways. Affected individuals have difficulty with speech perception, sound localization, and comprehending the meaning of inflections of speech." "" + "autotopagnosia" "An agnosia that is a loss of the ability to orient parts of the body." "" + "color agnosia" "An agnosia that is a loss of the ability to recognize a color, while being able to perceive or distinguish it." "" + "cortical deafness" "An agnosia that is a loss of the ability to perceive any auditory information but whose hearing is intact." "" + "finger agnosia" "An agnosia characterized by an inabilty to distinguish, name, or recognize the fingers" "" + "form agnosia" "An agnosia that is a loss of the ability to perceive a whole object while perceiving only parts of details." "" + "integrative agnosia" "Agnosia characterized by the inability to integrate perceptual wholes within knowledge." "" + "mirror agnosia" "An agnosia that is a loss of the ability to acknowledge objects in the neglected field that are visible when a mirror reflects the object visible in the non-neglected field." "" + "pain agnosia" "Loss of the ability to perceive and process pain." "" + "phonagnosia" "An agnosia that is a loss of the ability to recognize familiar voices." "" + "semantic agnosia" "An agnosia that is a loss of the ability to visually recognise an object while maintaining the use of non-visual sensory systems such as feeling, tapping, smelling, rocking or flicking the object to recognise the object." "" + "simultanagnosia" "An agnosia that is a loss of the ability to recgonize a whole image or scene while retianing the ability to recognize objects or details in their visual field one at a time." "" + "social emotional agnosia" "An agnosia that is a loss of the ability to perceive facial expression, body language and intonation, rendering them unable to non-verbally perceive people's emotions and limiting that aspect of social interaction." "" + "astereognosia" "An agnosia that is the loss of the ability to recognize objects by touch based on its texture, size and weight." "" + "tactile agnosia" "An agnosia that is a loss of the ability to recognize or identify objects by touch alone." "" + "time agnosia" "An agnosia that is a loss of the ability to comprehend the succession and duration of events." "" + "topographical agnosia" "An agnosia that is a loss of the ability to rely on visual cues to guide them directionally due to the inability to recognise objects." "" + "verbal auditory agnosia" "An agnosia that is a loss of the ability to recognising spoken words as semantically meaningful." "" + "vision disorder" "Any impairment to the vision." "" + "alexia without agraphia" "Loss of the power to comprehend written materials despite preservation of the ability to write (i.e., alexia without agraphia). This condition is generally attributed to lesions that 'disconnect' the visual cortex of the non-dominant hemisphere from language centers in the dominant hemisphere. This may occur when a dominant visual cortex injury is combined with underlying white matter lesions that involve crossing fibers from the occipital lobe of the opposite hemisphere. (From Adams et al., Principles of Neurology, 6th ed, p483)" "" + "diffuse alopecia areata" "An alopecia areata that involves diffuse loss of hair over the whole scalp." "" + "alopecia areata" "Loss of scalp and body hair involving microscopically inflammatory patchy areas." "" + "inherited organic acidemia" "An inherited disorder that affects the metabolism of any acidic compound containing carbon in a covalent linkage." "" + "inborn disorder of amino acid and other organic acid metabolism" "" + "disorder of organic acid metabolism" "A disease that has its basis in the disruption of organic acid metabolic process." "" + "obsolete survival motor neuron spinal muscular atrophy" "" "true" + "body dysmorphic disorder" "Preoccupations with appearance or self-image causing significant distress or impairment in important areas of functioning." "" + "somatoform disorder" "A category of psychiatric disorders which are characterized by the presence of physical symptoms that suggest a medical condition but are not fully explained by any known medical reasons." "" + "obsolete pain disorder" "" "true" + "obsolete Kleine-Levin syndrome" "" "true" + "bipolar II disorder" "A bipolar disorder that is characterized by at least one hypomanic episode and at least one major depressive episode; with this disorder, depressive episodes are more frequent and more intense than manic episodes." "" + "bipolar disorder" "A disorder of the brain that causes unusual shifts in mood, energy, activity levels and the ability to carry out day-to-day tasks. Often these moods range and shift from periods of elation and energized behavior to those of hopelessness and depression." "" + "seasonal affective disorder" "A syndrome characterized by depressions that recur annually at the same time each year, usually during the winter months. Other symptoms include anxiety, irritability, decreased energy, increased appetite (carbohydrate cravings), increased duration of sleep, and weight gain. sad (seasonal affective disorder) can be treated by daily exposure to bright artificial lights (phototherapy), during the season of recurrence." "" + "depressive disorder" "A melancholy feeling of sadness and despair." "" + "obsolete histidinemia" "" "true" + "obsolete juvenile absence epilepsy" "" "true" + "obsolete succinic semialdehyde dehydrogenase deficiency" "" "true" + "gamma-amino butyric acid metabolism disorder" "An amino acid metabolic disorder characterized by impairment of the GABA catabolic pathway." "" + "inborn disorder of gamma-aminobutyric acid metabolism" "An acquired metabolic disease that is has its basis in the disruption of gamma-aminobutyric acid metabolic process." "" + "obsolete homocarnosinosis" "" "true" + "familial hemiplegic migraine" "A migraine disorder characterized by individual and family history of aura that includes motor weakness." "" + "familial or sporadic hemiplegic migraine" "Hemiplegic migraine (HM) is a rare variety of migraine with aura characterized by the presence of a motor weakness during the aura. Hemiplegic migraine has two main forms depending on the familial history: patients with at least one first- or second-degree relative who has aura including motor weakness have familial hemiplegic migraine (FHM); patients without such familial history have sporadic hemiplegic migraine (SHM)." "" + "genetic central nervous system and retinal vascular disease" "" + "sporadic hemiplegic migraine" "A migraine disorder characterized by an aura that includes motor weakness and the absence of family history." "" + "ischemic colitis" "Inflammation of the colon due to colonic ischemia resulting from alterations in systemic circulation or local vasculature." "" + "colitis" "Inflammation of the colon." "" + "microscopic colitis" "Inflammation of the colon that is only apparent by microscopic examination." "" + "collagenous colitis" "A type of microscopic colitis of unknown etiology. It is characterized by the presence of collagen deposits in the lamina propria of the colonic mucosa. Patients present with chronic watery diarrhea. Colonoscopy reveals normal-appearing mucosa. The diagnosis is made with the microscopic examination of the colonic biopsy samples." "" + "lymphocytic colitis" "Microscopic colitis characterized by the accumulation of lymphocytes in the colonic epithelium and lamina propria. Patients present with chronic watery diarrhea. Colonoscopy reveals normal colonic mucosa. The diagnosis is made with the microscopic examination of the colonic biopsy samples." "" + "Clostridium difficile colitis" "A bacterial infection of the colon secondary to infection with Clostridium difficile bacteria. This infection generally results from the loss of normal gut flora secondary to recent antibiotic use, and manifests as copious watery stools, with associated abdominal pain and myalgia. C. difficile is the most common cause of pseudomembranous colitis, and can progress to toxic megacolon if left untreated." "" + "infectious colitis" "A viral or bacterial infectious process affecting the large intestine." "" + "chemical colitis" "A colitis caused by the introduction of harsh chemicals to the colon by an enema or other procedure. Chemical colitis can resemble ulcerative colitis, infectious colitis and pseudomembranous colitis endoscopically." "" + "diversion colitis" "A colitis which can occur as a complication of ileostomy or colostomy." "" + "Crohn jejunoileitis" "" + "Crohn disease" "A gastrointestinal disorder characterized by chronic inflammation involving all layers of the intestinal wall, noncaseating granulomas affecting the intestinal wall and regional lymph nodes, and transmural fibrosis. Crohn disease most commonly involves the terminal ileum; the colon is the second most common site of involvement." "" + "Crohn ileitis" "An Crohn disease involving a pathogenic inflammatory response in the ileum." "" + "Crohn jejunitis" "An Crohn disease involving a pathogenic inflammatory response in the jejunum." "" + "small bowel Crohn disease" "An Crohn disease involving a pathogenic inflammatory response in the small intestine." "" + "gastroduodenal Crohn disease" "An inflammatory bowel disease characterized by inflammation located in stomach and located in duodenum, has symptom nausea, has symptom vomiting, has symptom weight loss and has symptom loss of appetite." "" + "duodenitis" "Acute or chronic inflammation of the duodenum. Causes include bacterial and viral infections and gastroesophageal reflux disease. Symptoms include vomiting and abdominal pain." "" + "gastritis" "Inflammation of the stomach." "" + "obsolete amyotrophic lateral sclerosis type 13" "" "true" + "obsolete FTDALS" "" "true" + "obsolete Balo concentric sclerosis" "" "true" + "obsolete crest syndrome" "" "true" + "lymph node adenoid cystic carcinoma" "A adenoid cystic carcinoma that involves the lymph node." "" + "lymph node cancer" "A primary or metastatic malignant tumor involving the lymph node. Lymphomas and metastatic carcinomas are representative examples. -- 2004" "" + "agraphia" "An acquired writing disorder causing a loss in the ability to communicate through writing, either due to some motor dysfunction or the inability to spell." "" + "obsolete acrofrontofacionasal dysostosis" "" "true" + "obsolete Adams-Oliver syndrome" "" "true" + "obsolete Baraitser-winter syndrome" "" "true" + "obsolete basal ganglia calcification" "" "true" + "xanthinuria" "A metabolic metabolic disorder characterized by excess urinary excretion of the purine base xanthine." "" + "non-syndromic synpolydactyly" "A synpolydactyly that is not part of a larger syndrome." "" + "synpolydactyly" "A joint presentation of syndactyly (fusion of digits) and polydactyly (production of supernumerary digits)." "" + "non-syndromic polydactyly" "A congenital anomaly of the hand or foot, marked by the presence of supernumerary digits." "" + "non-syndromic syndactyly" "A congenital condition characterized by webbing between the fingers and/or toes, joining the digits together. In rare cases, the joining of the fingers or toes may involve bony fusion between the digits. Common causes include Down Syndrome and hereditary syndactyly." "" + "stutter disorder" "A speech disorder characterized by frequent sound or syllable repetitions, sound prolongations, or other dysfluencies that are inappropriate for the individual's age." "" + "speech disorder" "A term referring to disorders characterized by the disruption of normal speech. It includes stuttering, lisps, dysarthria and voice disorders." "" + "articulation disorder" "A disorder characterized by the failure to use developmentally expected speech sounds that are appropriate for the individual's age (i.e., the individual makes errors in sound production or use or omits sounds such as final consonants)." "" + "specific language impairment" "A language disorder characterized by difficulty in language acquisition despite otherwise normal development and in the absence of any obvious explanatory factors." "" + "obsolete Simpson-Golabi-Behmel syndrome" "" "true" + "idiopathic scoliosis" "A scoliosis with no known cause." "" + "scoliosis" "A congenital or acquired spinal deformity characterized by lateral curvature of the spine." "" + "idiopathic" "A disease characteristic in which the disease has an uncertain or unknown cause." "" + "idiopathic disease" "A disease or disorder for which the cause is of uncertain or unknown." "" + "scapuloperoneal myopathy" "A muscular dystrophy which begins at the lower legs and affects the shoulder region earlier and more severely than distal arm." "" + "Emery-Dreifuss muscular dystrophy" "Emery-Dreifuss muscular dystrophy (EDMD) is characterized by muscular weakness and atrophy, with early joint contractures and cardiomyopathy." "" + "ptosis" "The drooping of the upper eyelid." "" + "eye disease" "A non-neoplastic or neoplastic disorder that affects the eye. Representative examples include conjunctivitis, glaucoma, cataract, conjunctival squamous cell carcinoma, uveal melanoma, and retinoblastoma." "" + "obsolete congenital ptosis" "" "true" + "obsolete pontocerebellar hypoplasia" "" "true" + "obsolete peeling skin syndrome" "" "true" + "combined oxidative phosphorylation deficiency" "A mitochondrial oxidative phosphorylation disorder in which multiple mitochondrial respiratory chain complexes." "" + "mitochondrial oxidative phosphorylation disorder" "" + "cornea plana" "" + "corneal disease" "A non-neoplastic or neoplastic disorder that affects the cornea. Representative examples include keratitis, bullous keratopathy, and squamous cell carcinoma." "" + "Ohdo syndrome and variants" "" + "blepharophimosis - intellectual disability syndrome" "" + "obsolete oculodentodigital dysplasia" "" "true" + "dyschromatosis universalis hereditaria" "A pigmentation disease characterized by reticulate hyper- and hypo-pigmentated macules in a generalized distribution." "" + "hyperpigmentation of the skin" "" + "genetic skin disease" "An instance of skin disease that is caused by a modification of the individual's genome." "" + "obsolete megalocornea" "" "true" + "obsolete syndromic X-linked intellectual disability" "" "true" + "uvulitis" "Inflammation of the uvula." "" + "upper respiratory tract disease" "A disease involving the upper respiratory tract." "" + "mouth disease" "A disease involving the mouth." "" + "adenoid hypertrophy" "An upper respiratory tract disease characterized by the unusual growth of the adenoid tonsil; has symptom snoring, has symptom hyponasality, has symptom otitis media with effusion, has symptom mouth breathing." "" + "angular cheilitis" "Inflammation of the skin at the corners of the mouth characterized by redness, fissures or crusts." "" + "cheilitis" "An inflammatory process affecting the lip." "" + "obsolete persistent generalized lymphadenopathy" "" "true" + "oral hairy leukoplakia" "An epithelial hyperplasia of the oral cavity mucosa associated with Epstein-Barr virus and found almost exclusively in persons with HIV infection. The lesion consists of a white patch that is often corrugated or hairy." "" + "post-viral disorder" "A post-infectious disorder that follows viral infection but is distinct from the viral infection itself and its usual manifestations." "" + "AIDS" "A syndrome resulting from the acquired deficiency of cellular immunity caused by the human immunodeficiency virus (HIV). It is characterized by the reduction of the Helper T-lymphocytes in the peripheral blood and the lymph nodes. Symptoms include generalized lymphadenopathy, fever, weight loss, and chronic diarrhea. Patients with AIDS are especially susceptible to opportunistic infections (usually pneumocystis carinii pneumonia, cytomegalovirus (CMV) infections, tuberculosis, candida infections, and cryptococcosis), and the development of malignant neoplasms (usually non-Hodgkin lymphoma and Kaposi sarcoma). The human immunodeficiency virus is transmitted through sexual contact, sharing of contaminated needles, or transfusion of contaminated blood." "" + "lung abscess" "A bacterial, fungal or parasitic abscess that develops in the lung parenchyma. Causes include aspiration pneumonia, necrotizing pneumonia, necrotizing malignant tumors, and Wegener's granulomatosis." "" + "abscess" "An inflammatory process characterized by the accumulation of pus within a newly formed tissue cavity which is the result of a bacterial, fungal, or parasitic infection or the presence of a foreign body." "" + "lung disease" "A disease involving the lung." "" + "respiratory tract infectious disease" "Invasion of the host RESPIRATORY SYSTEM by microorganisms, usually leading to pathological processes or diseases." "" + "cardiac arrest" "Cessation of breathing and/or cardiac function." "" + "congestive heart failure" "Failure of the heart to pump a sufficient amount of blood to meet the needs of the body tissues, resulting in tissue congestion and edema. Signs and symptoms include shortness of breath, pitting edema, enlarged tender liver, engorged neck veins, and pulmonary rales." "" + "obsolete inguinal hernia" "The protrusion of a sac-like structure containing fibroadipose tissue through an abnormal opening in the inguinal region." "" "true" + "obsolete umbilical hernia" "A congenital defect in the muscles of the abdominal wall that results in the intestines and other abdominal organs developing outside the abdominal wall covered in a sac." "" "true" + "mastoiditis" "Inflammation of the mucosal lining of the mastoid antrum and mastoid air cell system of the mastoid process." "" + "bone inflammation disease" "Inflammation of the bone." "" + "breast abscess" "A breast disease characterized by a collection of pus in the breast." "" + "breast disease" "A disease involving the breast." "" + "dental abscess" "A tooth disease characterized by a localized collection of pus associated with a tooth." "" + "tooth disease" "A disease involving the calcareous tooth." "" + "cervical polyp" "A polyp that arises from the surface of the cervix." "" + "polyp" "A usually exophytic mass attached to the underlying tissue by a broad base or a thin stalk. Polyps can be neoplastic or non-neoplastic. Neoplastic polyps usually represent proliferations of the epithelium, and are commonly seen in the gastrointestinal tract. Polyps of the gastrointestinal tract are often called adenomas, are associated with dysplasia, and may eventually transform into carcinomas. Non-neoplastic polyps may be inflammatory, degenerative, or the result of malformations." "" + "cervix disease" "A non-neoplastic or neoplastic disorder that affects the cervix. Representative examples include cervicitis, endocervical polyp, and carcinoma." "" + "uterine polyp" "A benign protruding lesion arising either from the endometrial cavity (endometrial polyp) or the endocervix (endocervical polyp). It may occasionally recur following complete resection." "" + "obsolete myelomeningocele" "" "true" + "obsolete omphalocele" "" "true" + "anal fistula" "A pathologic tract that connects an opening in the anal canal to the perianal skin. In the vast majority of cases there is a history of perianal abscess." "" + "rectal disease" "A disease that involves the rectum." "" + "ectopic pregnancy" "An abnormal pregnancy in which the conception is implanted outside the endometrial cavity." "" + "female reproductive system disease" "A disease involving the female reproductive system." "" + "parameningeal embryonal rhabdomyosarcoma" "An embryonal rhabdomyosarcoma located in the parameningeal region." "" + "embryonal rhabdomyosarcoma" "A poorly circumscribed morphologic variant of rhabdomyosarcoma. It is characterized by the presence of primitive skeletal muscle differentiation in any stage of myogenesis." "" + "glucocorticoid-induced osteoporosis" "An osteoporosis caused by chronic glucocorticoid use. Glucocorticoids impair the replication, differentiation and function of osteoblasts and induce the apoptosis of mature osteoblasts and osteocytes; the also favor osteoclastogenesis leading to an increase in bone resorption." "" + "corticosteroid-induced osteoporosis" "" + "bacillary angiomatosis" "A condition that is caused by infection with Bartonella, and which is characterized by vascular proliferation, usually in immunocompromised individuals." "" + "angiomatosis" "A benign diffuse vascular proliferation usually occurring in young adults. It is characterized by the formation of capillary-sized and cavernous vascular spaces. Patients present with diffuse persistent swelling." "" + "bartonellosis" "An infectious disease produced by bacteria of the genus Bartonella." "" + "benign neoplasm of skin" "A benign neoplasm that involves the zone of skin." "" + "skin disease caused by bacterial infection" "Skin diseases caused by bacteria." "" + "obsolete acrorenal syndrome" "" "true" + "obsolete acrofacial dysostosis" "" "true" + "syndrome caused by partial chromosomal deletion" "" + "syndrome caused by partial chromosomal duplication" "" + "epithelial and subepithelial corneal dystrophy" "" + "corneal dystrophy" "The term corneal dystrophy embraces a heterogeneous group of bilateral genetically determined non-inflammatory corneal diseases that are usually restricted to the cornea. The designation is imprecise but remains in vogue because of its clinical value." "" + "epithelial-stromal TGFBI dystrophy" "Any corneal dystrophy (disease) in which the cause of the disease is a mutation in the TGFBI gene." "" + "obsolete corneal stromal dystrophy" "" "true" + "corneal endothelial dystrophy" "A corneal dystrophy (disease) that involves the corneal epithelium." "" + "obsolete nut midline carcinoma" "" "true" + "obsolete Zika fever" "" "true" + "chicken egg allergy" "An egg allergy triggered by Gallus gallus eggs." "" + "allergic disease" "An immune response that occurs following re-exposure to an innocuous antigen, and that requires the presence of existing antibodies against that antigen. This response involves the binding of IgE to mast cells, and may worsen with repeated exposures." "" + "shellfish allergy" "Allergic reaction to shellfish or shellfish products." "" + "allergic respiratory disease" "A respiratory system disease with a basis in a pathological type I hypersensitivity reaction." "" + "obsolete pollen allergy" "A allergy involving pollen." "" "true" + "obsolete Timothy grass allergy" "A allergy involving a Phleum pratense." "" "true" + "autoimmune neuropathy" "An autoimmune form of peripheral neuropathy." "" + "peripheral neuropathy" "A disorder affecting the peripheral nervous system. It manifests with pain, tingling, numbness, and muscle weakness. It may be the result of physical injury, toxic substances, viral diseases, diabetes, renal failure, cancer, and drugs." "" + "drug allergy" "Immunologically mediated adverse reactions to medicinal substances used legally or illegally." "" + "obsolete metal allergy" "A allergy involving a metal allergen." "" "true" + "gastrointestinal allergy" "A allergic disease that involves the digestive tract." "" + "fruit allergy" "A food allergy triggered by a plant fruit product." "" + "obsolete apple allergy" "A allergy involving a Malus domestica." "" "true" + "obsolete apricot allergy" "A allergy involving a Prunus armeniaca." "" "true" + "cherry allergy" "A fruit allergy triggered by Prunus avium plant fruit food product." "" + "Indian plum allergy" "A fruit allergy triggered by Ziziphus mauritiana plant fruit food product." "" + "orange allergy" "A fruit allergy triggered by Citrus sinensis plant fruit food product." "" + "melon allergy" "A fruit allergy triggered by Cucumis melo plant fruit food product." "" + "obsolete peach allergy" "A allergy involving a Prunus persica." "" "true" + "obsolete plum allergy" "A allergy involving a Prunus domestica." "" "true" + "obsolete tomato allergy" "A allergy involving a Solanum lycopersicum." "" "true" + "obsolete fish allergy" "A allergy involving fish." "" "true" + "obsolete Atlantic cod allergy" "A allergy involving a Gadus morhua." "" "true" + "obsolete Atlantic salmon allergy" "A allergy involving a Salmo salar." "" "true" + "obsolete carp allergy" "A allergy involving a Cyprinus carpio." "" "true" + "obsolete zebrafish allergy" "" "true" + "obsolete rainbow trout allergy" "A allergy involving a Oncorhynchus mykiss." "" "true" + "obsolete beta-lactam allergy" "A allergy involving a beta-lactam." "" "true" + "obsolete penicillin allergy" "An allergy to Penicillin." "" "true" + "obsolete cow milk allergy" "A allergy involving cow mile." "" "true" + "obsolete goat milk allergy" "A allergy involving goat milk." "" "true" + "obsolete mollusc allergy" "A allergic disease involving a mollusc food product." "" "true" + "obsolete crustacean allergy" "A allergic disease involving a crustacean food product." "" "true" + "obsolete brown shrimp allergy" "A allergic disease involving a brown shrimp." "" "true" + "obsolete green mud crab allergy" "A allergic disease involving a green mud crab." "" "true" + "obsolete Indian prawn allergy" "A allergic disease involving a Indian prawn." "" "true" + "obsolete tiger prawn allergy" "A allergy involving a Penaeus monodon." "" "true" + "obsolete white shrimp allergy" "A allergy involving a Litopenaeus schmitti." "" "true" + "obsolete snail allergy" "A allergic disease involving a snail food product." "" "true" + "obsolete horned turban snail allergy" "A allergy involving a Turbo cornutus." "" "true" + "latex allergy" "Allergic reaction to products containing processed natural rubber latex such as rubber gloves, condoms, catheters, dental dams, balloons, and sporting equipment. Both T-cell mediated (hypersensitivity, delayed) and IgE antibody-mediated (hypersensitivity, immediate) allergic responses are possible. Delayed hypersensitivity results from exposure to antioxidants present in the rubber; immediate hypersensitivity results from exposure to a latex protein." "" + "obsolete hepatoid adenocarcinoma" "" "true" + "purpura fulminans" "A severe, rapidly fatal reaction occurring most commonly in children following an infectious illness. It is characterized by large, rapidly spreading skin hemorrhages, fever, or shock. Purpura fulminans often accompanies or is triggered by disseminated intravascular coagulation." "" + "disseminated intravascular coagulation" "A pathological process where the blood starts to coagulate throughout the whole body. This depletes the body of its platelets and coagulation factors, and there is an increased risk of hemorrhage." "" + "purpura" "A small blood vessel hemorrhage into the skin and/or mucous membranes. Newer lesions appear reddish in color. Older lesions are usually a darker purple color and eventually become a brownish-yellow color." "" + "obsolete DMD-related dilated cardiomyopathy" "A dilated cardiomyopathy that has material basis in mutations in the DMD gene." "" "true" + "anomalous left coronary artery from the pulmonary artery" "A congenital coronary vessel anomaly in which the left main coronary artery originates from the pulmonary artery instead of from aorta. The congenital heart defect typically results in coronary artery fistula; left-sided heart failure and mitral valve insufficiency during the first months of life." "" + "congenital coronary artery anomaly" "" + "cardiac tuberculosis" "Pathological conditions of the cardiovascular system caused by infection of mycobacterium tuberculosis. Tuberculosis involvement may include the heart; the blood vessels; or the pericardium." "" + "B-cell adult acute lymphocytic leukemia" "An acute B-lymphoblastic leukemia occurring in adults." "" + "B-cell childhood acute lymphoblastic leukemia" "An acute B-lymphoblastic leukemia occurring in children." "" + "adult acute lymphoblastic leukemia" "An acute lymphoblastic leukemia occurring during adulthood." "" + "adult lymphoma" "A lymphoma that occurs in an adult." "" + "fetal nicotine spectrum disorder" "A specific developmental disorder that is characterized by physical, behavioral and learning birth defects resulting from maternal ingestion of nicotine during pregnancy." "" + "abdominal obesity-metabolic syndrome" "" + "overnutrition" "An imbalanced nutritional status resulting from excessive intake of nutrients. Generally, overnutrition generates an energy imbalance between food consumption and energy expenditure leading to disorders such as obesity." "" + "" "true" + "anterior segment dysgenesis 7" "Any anterior segment dysgenesis in which the cause of the disease is a mutation in the PXDN gene." "" + "obsolete lethal congenital contracture syndrome 4" "" "true" + "anencephaly" "A rare neural tube defect during pregnancy, resulting in the absence of a large portion of the brain and skull in the fetus." "" + "cerebral cavernous malformation" "A disorder characterized by malformations in the structure of the capillaries in the brain. It is caused by mutations in the CCM2, KRIT1 and PDCD10 genes. The capillaries fill with blood and stretch, thereby creating cavernous spaces. Some patients experience headaches, seizures, or visual and hearing disturbances. Cerebral hemorrhage may also occur." "" + "central nervous system hemangioma" "A hemangioma arising from the brain and spinal cord." "" + "" "true" + "cerebral cavernous malformation 3" "Any familial cerebral cavernous malformation in which the cause of the disease is a mutation in the PDCD10 gene." "" + "obsolete lymphoproliferative syndrome" "" "true" + "" "true" + "familial temporal lobe epilepsy 3" "" + "congenital diarrhea" "" + "obsolete hypomyelinating leukodystrophy" "" "true" + "obsolete syndromic X-linked intellectual disability Cabezas type" "" "true" + "salmonellosis" "Infections with bacteria of the genus salmonella." "" + "dysentery" "Acute inflammation of the intestine associated with infectious diarrhea of various etiologies, generally acquired by eating contaminated food containing toxins, biological derived from bacteria or other microorganisms. Dysentery is characterized initially by watery feces then by bloody mucoid stools. It is often associated with abdominal pain; fever; and dehydration." "" + "juvenile-onset Parkinson disease" "" + "Parkinson disease" "A progressive degenerative disorder of the central nervous system characterized by loss of dopamine producing neurons in the substantia nigra and the presence of Lewy bodies in the substantia nigra and locus coeruleus. Signs and symptoms include tremor which is most pronounced during rest, muscle rigidity, slowing of the voluntary movements, a tendency to fall back, and a mask-like facial expression." "" + "young-onset Parkinson disease" "A form of Parkinson disease (PD) characterized by an age of onset between 21-45 years, rigidity, painful cramps followed by tremor, bradykinesia, dystonia, gait complaints and falls, and other non-motor symptoms. A slow disease progression and a more pronounced response to dopaminergic therapy are also observed in most YOPD forms." "" + "obsolete early-onset Parkinson disease" "" "true" + "obsolete Waldenstroem's macroglobulinemia" "" "true" + "obsolete myeloid neoplasm" "" "true" + "bone remodeling disease" "A bone disease that results in formation or resorption abnormalities located in bone." "" + "bone disease" "Diseases of bones." "" + "obsolete bone deterioration disease" "A bone structure disease that results in change or damage of structure located in bone." "" "true" + "obsolete ischemic bone disease" "" "true" + "disease of bone structure" "" + "bone resorption disease" "A disease that has its basis in the disruption of bone resorption. Bone resorption is a process in which specialized cells known as osteoclasts degrade the organic and inorganic portions of bone, and endocytose and transport the degradation products." "" + "obsolete chromosomal disease" "" "true" + "obsolete congenital abnormality" "Any abnormality, anatomical or biochemical, evident at birth or during the neonatal period." "" "true" + "dysbaric osteonecrosis" "A form of avascular necrosis where there is death of a portion of the bone that is thought to be caused by nitrogen embolism." "" + "avascular necrosis" "Necrotic changes in the bone tissue due to interruption of blood supply. Most often affecting the epiphysis of the long bones, the necrotic changes result in the collapse and the destruction of the bone structure." "" + "obsolete metaphyseal dysplasia" "" "true" + "" "true" + "metaphyseal chondrodysplasia, Jansen type" "Jansen's metaphyseal chondrodysplasia (JMC) is a very rare autosomal dominant skeletal dysplasia characterized by short-limbed short stature (due to severe metaphyseal changes that are often discovered in childhood by imaging), waddling gait, bowed legs, contracture deformities of the joints, short hands with clubbed fingers, clinodactyly, prominent upper face and small mandible, as well as chronic parathyroid hormone-independent hypercalcemia, hypercalciuria, and mild hypophosphatemia." "" + "" "true" + "Shwachman-Diamond syndrome" "Shwachman-Diamond syndrome (SDS) is a rare multisystemic syndrome characterized by chronic and usually mild neutropenia, pancreatic exocrine insufficiency associated with steatorrhea and growth failure, skeletal dysplasia with short stature, and an increased risk of bone marrow aplasia or leukemic transformation." "" + "obsolete spondyloepimetaphyseal dysplasia" "" "true" + "fibrous dysplasia" "A genetic, non-inheritable disorder caused by osteoblastic differentiation defects that result in the replacement of bone marrow and trabecular bone by fibrous stroma and immature bone. It usually affects a single bone and less frequently multiple bones. Skull, femur, tibia, and humerus are the most frequently affected bones. It manifests with pain, deformities, and fractures." "" + "acquired" "" + "obsolete craniodiaphyseal dysplasia" "" "true" + "obsolete pycnodysostosis" "" "true" + "obsolete axial osteomalacia" "" "true" + "fibrogenesis imperfecta ossium" "A syndrome that involves abnormality of collagen synthesis in lamellar bones, with manifestations limited to the skeleton. The initial symptom is frequently spontaneous fractures." "" + "obsolete hypochondroplasia" "" "true" + "obsolete achondrogenesis" "" "true" + "obsolete hypochondrogenesis" "" "true" + "obsolete Kniest dysplasia" "" "true" + "obsolete Stickler syndrome" "" "true" + "obsolete acromesomelic dysplasia" "" "true" + "obsolete Charcot-Marie-Tooth disease type 6" "" "true" + "obsolete Charcot-Marie-Tooth disease type 7" "A Charcot-Marie-Tooth disease that is characterized by optic atrophy followed by retinitis pigmentosa." "" "true" + "Charcot-Marie-Tooth disease" "An inherited degenerative disorder involving the peripheral nerves. It is caused by mutations in the genes that are responsible for the production of proteins necessary for the function and structure of the peripheral nerves. It is characterized by muscle atrophy and weakness in the feet, legs, hands, and arms and loss of sensation in the limbs." "" + "neuronal intestinal dysplasia" "" + "colonic disease" "Pathological processes in the colon region of the large intestine (intestine, large)." "" + "spina bifida occulta" "The mildest form of spina bifida, characterized by any of several neural tube defects which may go undetected until an x-ray is performed. Treatment is symptomatic." "" + "spina bifida" "A congenital neural tube defect in which vertebrae are not fully formed. It results in the protrusion of the spinal cord through the opening of the vertebrae." "" + "obsolete neural tube defect" "" "true" + "obsolete tubular aggregate myopathy" "" "true" + "obsolete reducing body myopathy" "" "true" + "myopathy, lactic acidosis, and sideroblastic anemia" "Mitochondrial myopathy and sideroblastic anemia belongs to the heterogeneous family of metabolic myopathies. It is characterised by progressive exercise intolerance manifesting in childhood, onset of sideroblastic anaemia around adolescence, lactic acidaemia, and mitochondrial myopathy." "" + "inborn mitochondrial myopathy" "Myopathy caused by mitochondrial abnormalities." "" + "mitochondrial disorder due to a defect in mitochondrial protein synthesis" "True" + "inherited sideroblastic anemia" "" + "obsolete congenital myopathy" "" "true" + "obsolete congenital fiber-type disproportion" "" "true" + "myoglobinuria" "" + "rhabdomyolysis" "A clinical syndrome resulting from direct or indirect muscle injury and subsequent release of myoglobin into the plasma." "" + "obsolete multiple pterygium syndrome" "" "true" + "obsolete mitochondrial DNA depletion syndrome 6" "" "true" + "obsolete congenital fibrosis of the extraocular muscles" "" "true" + "childhood acute lymphoblastic leukemia" "An acute lymphoblastic leukemia occurring during childhood. The majority of cases are B-acute lymphoblastic leukemias. Approximately 15% of the cases are T-acute lymphoblastic leukemias." "" + "acute lymphoblastic leukemia" "Leukemia with an acute onset, characterized by the presence of lymphoblasts in the bone marrow and the peripheral blood. It includes the acute B lymphoblastic leukemia and acute T lymphoblastic leukemia." "" + "pediatric lymphoma" "A Hodgkin or non-Hodgkin lymphoma that occurs during childhood." "" + "childhood leukemia" "An acute or chronic leukemia that occurs during childhood." "" + "primary bone lymphoma" "A rare non-Hodgkin lymphoma or even more rarely, a Hodgkin lymphoma that arises from the bone, without lymph node or other extranodal involvement. The femur, spine, and pelvic bones are the most commonly affected sites. The majority of patients present with bone pain in the affected area. A single bone or multiple skeletal sites may be involved. The prognosis is related to the cell type and the stage of the disease." "" + "T-cell childhood acute lymphocytic leukemia" "An acute lymphoblastic leukemia of T-cell origin occurring in children." "" + "childhood precursor T-lymphoblastic lymphoma/leukemia" "A T lymphoblastic leukemia/lymphoma that occurs during childhood." "" + "T-cell acute lymphoblastic leukemia" "Acute lymphoblastic leukemia of T-cell origin. It comprises about 15% of childhood cases and 25% of adult cases. It is more common in males than females. (WHO, 2001)" "" + "precursor B-cell acute lymphoblastic leukemia" "The most frequent type of acute lymphoblastic leukemia. Approximately 75% of cases occur in children under six years of age. This is a good prognosis leukemia. In the pediatric age group the complete remission rate is approximately 95% and the disease free survival rate is 70%. Approximately 80% of children appear to be cured. In the adult age group the complete remission rate is 60-85%. (WHO, 2001)" "" + "lymphoblastic lymphoma" "A lymphoma composed of immature small to medium-sized precursor lymphoid cells (lymphoblasts). It includes the B- and T-cell lymphoblastic lymphoma." "" + "precursor lymphoblastic lymphoma/leukemia" "A neoplasm of immature malignant lymphocytes (lymphoblasts) committed to the B-cell or T-cell lineage. Neoplasms involving the bone marrow and the peripheral blood are called precursor lymphoblastic leukemias or acute lymphoblastic leukemias. Neoplasms involving primarily lymph nodes or extranodal sites are called lymphoblastic lymphomas. -- 2003" "" + "non-Hodgkin lymphoma" "Distinct from Hodgkin lymphoma both morphologically and biologically, non-Hodgkin lymphoma (NHL) is characterized by the absence of Reed-Sternberg cells, can occur at any age, and usually presents as a localized or generalized lymphadenopathy associated with fever and weight loss. The clinical course varies according to the morphologic type. NHL is clinically classified as indolent, aggressive, or having a variable clinical course. NHL can be of B-or T-/NK-cell lineage." "" + "T-cell childhood lymphoblastic lymphoma" "A T lymphoblastic lymphoma that occurs during childhood." "" + "adult acute monocytic leukemia" "A acute monocytic leukemia that occurs in an adult." "" + "acute monocytic leukemia" "Acute monoblastic leukemia (AML-M5), is one of the most common subtypes of acute myeloid leukemia (AML) that is either comprised of more than 80% of monoblasts (AML-M5a) or 30-80% monoblasts with (pro)monocytic differentiation (AML-M5b). AML-M5 presents with asthenia, pallor, fever, and dizziness. Specific features of AML-M5 include hyperleukocytosis, propensity for extramedullary infiltrates, coagulation abnormalities including disseminated intravascular coagulation and neurological disorders. Leukemia cutis and gingival infiltration can also be seen. A characteristic translocation observed in AML-M5 is t(9;11)." "" + "obsolete herpes simplex virus keratitis" "" "true" + "obsolete Cryptococcal meningitis" "" "true" + "cytomegalovirus retinitis" "Infection of the retina by cytomegalovirus characterized by retinal necrosis, hemorrhage, vessel sheathing, and retinal edema. Cytomegalovirus retinitis is a major opportunistic infection in aids patients and can cause blindness." "" + "retinitis" "Inflammation of the retina." "" + "cytomegalovirus infection" "A herpesvirus infection caused by Cytomegalovirus. Healthy individuals generally do not produce symptoms. However, the infection may be life-threatening in affected immunocompromised patients. The virus may cause retinitis, esophagitis, gastritis, and colitis. Morphologically, it is characterized by the presence of intranuclear inclusion bodies." "" + "endophthalmitis" "An infectious process affecting the internal structures of the eye." "" + "infectious disease of the nervous system" "A infectious disease that involves the nervous system." "" + "viral eye infection" "Infections of the eye caused by minute intracellular agents. These infections may lead to severe inflammation in various parts of the eye - conjunctiva, iris, eyelids, etc. Several viruses have been identified as the causative agents. Among these are Herpesvirus, Adenovirus, Poxvirus, and Myxovirus." "" + "cutaneous candidiasis" "Candidiasis of the skin manifested as eczema-like lesions of the interdigital spaces, perleche, or chronic paronychia. (Dorland, 27th ed)" "" + "candidiasis" "Infection with the organism Candida." "" + "obsolete lupus nephritis" "" "true" + "obsolete myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1" "" "true" + "obsolete myeloid and lymphoid neoplasms associated with PDGFRA rearrangement" "" "true" + "obsolete myeloid neoplasms associated with PDGFRB rearrangement" "" "true" + "myeloid and lymphoid neoplasms associated with FGFR1 abnormalities" "" + "myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2" "" + "obsolete cloacal exstrophy" "" "true" + "obsolete meningococcal meningitis" "" "true" + "obsolete hepatic veno-occlusive disease" "" "true" + "mucositis" "Inflammation of the mucous membranes." "" + "haemophilus meningitis" "Infections of the nervous system caused by bacteria of the genus haemophilus, and marked by prominent inflammation of the meninges. haemophilus influenzae type B is the most common causative organism. The condition primarily affects children under 6 years of age but may occur in adults." "" + "meningitis" "A disorder characterized by acute inflammation of the meninges of the brain and/or spinal cord." "" + "bacterial meningitis" "Inflammation of the membranes surrounding the brain and spinal cord due to a bacterial infection." "" + "haemophilus infectious disease" "Infections with bacteria of the genus haemophilus." "" + "Zika virus congenital syndrome" "A congenital birth syndrome that arises from materal Zika infection." "" + "post-infectious syndrome" "" + "Zika virus infectious disease" "Mosquito-born virus disease characterized by a clinical course that may be asymptomatic or mild with fever, conjunctivitis, muscle and joint pain, headache, exanthema, but may also be associated with severe neurological (meningitis, meningoencephalitis and myelitis) and auto-immune (Guillain-Barre syndrome) complications, as well as a potential increase of birth defects (microcephaly) if the infection occurs during pregnancy." "" + "mixed fibrolamellar hepatocellular carcinoma" "A fibrolamellar carcinoma that is characterized by the presence of both pure fibrolamellar hepatocellular carcinoma and and conventional hepatocellular carcinoma components." "" + "fibrolamellar hepatocellular carcinoma" "A distinctive type of liver cell carcinoma that arises in non-cirrhotic livers and is seen predominantly in young patients. The tumor cells are polygonal and deeply eosinophilic, and are embedded in a fibrous stroma. The prognosis is similar to classical hepatocellular carcinoma that arises in non-cirrhotic livers, and better than hepatocellular carcinoma that arises in cirrhotic livers." "" + "colon medullary carcinoma" "A rare, invasive colon adenocarcinoma characterized by the presence of sheets of malignant epithelial cells with vesicular nuclei, prominent nucleoli, and abundant eosinophilic cytoplasm. It usually has a favorable prognosis." "" + "colorectal medullary carcinoma" "A rare, invasive colorectal adenocarcinoma characterized by the presence of sheets of malignant epithelial cells with vesicular nuclei, prominent nucleoli, and abundant eosinophilic cytoplasm. It usually has a favorable prognosis." "" + "colon adenocarcinoma" "A carcinoma that arises from glandular epithelial cells of the colon" "" + "mixed mucinous and nonmucinous bronchioloalveolar adenocarcinoma" "A rare morphologic variant of bronchiolo-alveolar lung carcinoma characterized by the presence of both mucin and non-mucin producing cells." "" + "minimally invasive lung adenocarcinoma" "A solitary adenocarcinoma arising from the lung measuring 3 cm or less. It is characterized by a predominantly lepidic pattern and 5 mm or less invasion in greatest dimension. It is usually a non-mucinous adenocarcinoma, but rarely may be mucinous." "" + "mucinous bronchioloalveolar adenocarcinoma" "A bronchiolo-alveolar adenocarcinoma that is characterized by a tumour cells containing abundant mucin in their cytoplasm and composed of tall columnar cells growing along alveolar walls without stromal invasion." "" + "mucinous neoplasm" "" + "lung colloid adenocarcinoma" "A morphologic variant of lung adenocarcinoma characterized by the presence of mucin pools containing islands of well differentiated adenocarcinoma cells." "" + "nonmucinous bronchioloalveolar adenocarcinoma" "A bronchiolo-alveolar adenocarcinoma that is characterized by cells with cuboidal or columnar morphology with eosinophilic or clear cytoplasm and shows Clara cell or type 2 pneumocyte differentiation." "" + "obsolete chronic neutrophilic leukemia" "" "true" + "obsolete chronic myelomonocytic leukemia" "" "true" + "malignant hemangioma" "A malignant form of hemangioma." "" + "hemangioma" "A benign vascular lesion characterized by the formation of capillary-sized or cavernous vascular channels." "" + "obsolete malignant epithelioid hemangioendothelioma" "" "true" + "obsolete PTEN hamartoma tumor syndrome" "" "true" + "relapsed/refractory diffuse large B-cell lymphoma" "A diffuse large B-cell lymphoma characterized by less than 50 percent decrease in lesion size with induction therapy or the appearance of new lesions or the appearance of new lesions after attainment of complete remission." "" + "diffuse large B-cell lymphoma" "Diffuse large B-cell lymphoma is the most common subtype of non-Hodgkin lymphoma (NHL) in adults characterized by a median age of presentation in the sixth decade of life (but also rarely occurring in adolescents and children) with the initial presentation being single or multiple rapidly growing masses (that may or may not be painful) in nodal or extranodal sites (such as thyroid, skin, breast, gastrointestinal tract, testes, bone, or brain) and that can be accompanied by symptoms of fever, night sweats and weight loss. DLBCL has an aggressive disease course, with the elderly having a poorer prognosis than younger patients, and with relapses being common." "" + "agenesis of the corpus callosum with peripheral neuropathy" "Corpus callosum agenesis-neuropathy is a neurodegenerative disorder characterized by severe progressive sensorimotor neuropathy beginning in infancy with resulting hypotonia, areflexia, amyotrophy and variable degrees of dysgenesis of the corpus callosum. Additional features include mild-to-severe intellectual and developmental delays, and psychiatric manifestations that include paranoid delusions, depression, hallucinations, and \"autistic-like\" features. Affected individuals are usually wheelchair restricted in the second decade of life and die in the third decade of life. The disease is inherited as an autosomal recessive trait." "" + "bulbospinal muscular atrophy" "" + "myoclonus-dystonia syndrome" "Myoclonus-dystonia syndrome (MDS) is a rare movement disorder characterized by mild to moderate dystonia along with 'lightning-like' myoclonic jerks." "" + "primary myoclonus" "" + "persistent combined dystonia" "" + "complex cortical dysplasia with other brain malformations" "" + "obsolete cortisone reductase deficiency" "" "true" + "obsolete Alzheimer disease 5" "" "true" + "obsolete amelogenesis imperfecta type 1C" "" "true" + "arrhythmogenic right ventricular dysplasia 13" "Any arrhythmogenic right ventricular cardiomyopathy in which the cause of the disease is a mutation in the CTNNA3 gene." "" + "familial isolated arrhythmogenic right ventricular dysplasia" "Familial isolated arrhythmogenic right ventricular dysplasia (ARVC) is the familial autosomal dominant form of ARVC, a heart muscle disease characterized by life-threatening ventricular arrhythmias with left bundle branch block configuration that may manifest with palpitations, ventricular tachycardia, syncope and sudden fatal attacks, and that is due to dystrophy and fibro-fatty replacement of the right ventricular myocardium that may lead to right ventricular aneurysms." "" + "Bartter disease type 4B" "A Bartter disease that has material basis in simultaneous mutation in both the CLCNKA and CLCNKB genes." "" + "infantile Bartter syndrome with sensorineural deafness" "Infantile Bartter syndrome with deafness, a phenotypic variant of Bartter syndrome is characterized by maternal polyhydramnios, premature delivery, polyuria and sensorineural deafness and is associated with hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure, and vascular resistance to angiotensin II." "" + "retinitis pigmentosa 6" "A retinitis pigmentosa that has material basis in variation in the chromosome region Xp21.3-p21.2." "" + "retinitis pigmentosa" "Retinitis pigmentosa (RP) is an inherited retinal dystrophy leading to progressive loss of the photoreceptors and retinal pigment epithelium and resulting in blindness usually after several decades." "" + "X-linked recessive disease" "X-linked recessive form of disease." "" + "obsolete dilated cardiomyopathy 1T" "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the TMPO gene." "" "true" + "autosomal recessive nonsyndromic hearing loss 5" "An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 14q12." "" + "hearing loss, autosomal recessive" "Autosomal recessive form of nonsyndromic deafness." "" + "hereditary spherocytosis type 2" "Any hereditary spherocytosis in which the cause of the disease is a mutation in the SPTB gene." "" + "hereditary spherocytosis" "Hereditary spherocytosis is a congenital hemolytic anemia with a wide clinical spectrum (from symptom-free carriers to severe hemolysis) characterized by anemia, variable jaundice, splenomegaly and cholelithiasis." "" + "cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1" "A CADASIL characterized by migraine, strokes, and white matter lesions that has material basis in heterozygous mutation in the NOTCH3 gene on chromosome 19p13." "" + "cerebral arteriopathy with subcortical infarcts and leukoencephalopathy" "" + "" "true" + "Bernard-Soulier syndrome, type A2, autosomal dominant" "A Bernard-Soulier syndrome characterized by autosomal dominant inheritance of mild to moderate bleeding tendency, thrombocytopenia, and an increased mean platelet size that has material basis in heterozygous mutations in the GP1BA gene on chromosome 17p." "" + "intestinal infectious disease" "An infectious disease involving a pathogenic inflammatory response in the intestinal mucosa." "" + "obsolete thyroid lymphoma" "" "true" + "endometritis" "An acute or chronic, usually bacterial infectious process affecting the endometrium. It may extend to the myometrium and parametrial tissues. Symptoms include lower abdominal pain, vaginal discharge, and vaginal bleeding." "" + "endometrial disease" "A non-neoplastic or neoplastic disorder that affects the endometrium. Representative examples include endometritis, endometrial hyperplasia, and endometrial carcinoma." "" + "ampulla of vater cancer" "A primary or metastatic malignant neoplasm involving the ampulla of Vater." "" + "duodenum cancer" "A primary or metastatic malignant neoplasm that affects the duodenum. Representative examples include carcinoma, lymphoma, and sarcoma." "" + "malignant tumor of extrahepatic bile duct" "A cancer that involves the extrahepatic bile duct." "" + "small intestine cancer" "A primary or metastatic malignant neoplasm involving the small intestine." "" + "common bile duct neoplasm" "Tumor or cancer of the common bile duct including the ampulla of vater and the sphincter of oddi." "" + "pelvic inflammatory disease" "Pelvic inflammatory disease (PID) is an acute or chronic inflammation in the pelvic cavity. It is most commonly caused by sexually transmitted diseases, including chlamydia and gonorrhea that have ascended into the uterus, fallopian tubes, or ovaries as a result of intercourse or childbirth, or of surgical procedures, including insertion of IUDs or abortion. PID may be either symptomatic or asymptomatic. It may cause infertility and it may raise the risk of ectopic pregnancy. PID is a disease associated with HIV infection." "" + "interstitial emphysema" "Pathologic accumulation of air in the interstitium of the lungs, which is caused by the rupture of alveoli and terminal bronchioles, and is most often seen in premature infants that need mechanical ventilation for respiratory distress syndrome." "" + "pulmonary emphysema" "A subcategory of chronic obstructive pulmonary disease (COPD). It occurs in people who smoke and suffer from chronic bronchitis. It is characterized by inflation of the alveoli, alveolar wall damage, and reduction in the number of alveoli, resulting in difficulty breathing." "" + "compensatory emphysema" "" + "hyperlucent lung" "A lung with reduced markings on its chest radiograph and increased areas of transradiancy (hyperlucency). A hyperlucent lung is usually associated with pulmonary emphysema or pneumothorax." "" + "eye accommodation disease" "Disease that disrupts the process by which the vertebrate eye changes optical power to maintain a clear image or focus on an object as its distance varies." "" + "asymptomatic neurosyphilis" "" + "eyelid melanoma" "A melanoma that arises from the upper or lower eyelid." "" + "cutaneous melanoma" "A primary melanoma arising from atypical melanocytes in the skin. Precursor lesions include acquired and congenital melanocytic nevi, and dysplastic nevi. Several histologic variants have been recognized, including superficial spreading melanoma, acral lentiginous melanoma, nodular melanoma, and lentigo maligna melanoma." "" + "ocular melanoma" "A melanoma that arises from the structures of the eye or ocular adnexa." "" + "eyelid cancer" "A cancer that involves the eyelid." "" + "balloon cell malignant melanoma" "A rare variant of melanoma with a vertical growth phase. It presents as a nodular or polypoid skin lesion. It is characterized by the presence of nodules which contain large melanoma cells with clear, foamy or finely vacuolated cytoplasm. The prognosis is similar to that of other melanomas matched for depth of invasion." "" + "nodular malignant melanoma" "An aggressive form of melanoma, frequently metastasizing to the lymph nodes. It presents as a papular or nodular raised skin lesion. It comprises approximately 10-15% of melanomas. Morphologically, it often displays an epithelioid appearance." "" + "obsolete skin amelanotic melanoma" "" "true" + "subglottis neoplasm" "A benign or malignant neoplasm that affects the subglottic area of the larynx." "" + "laryngeal neoplasm" "A benign or malignant neoplasm involving the larynx." "" + "laryngeal leiomyoma" "A benign smooth muscle neoplasm arising from the larynx. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern." "" + "leiomyoma" "A well-circumscribed benign smooth muscle neoplasm characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern." "" + "benign laryngeal neoplasm" "A non-metastasizing neoplasm that arises from the larynx. Representative examples include squamous papilloma and hemangioma." "" + "larynx squamous papilloma" "A benign exophytic neoplasm that arises from the larynx, usually the true vocal cords. It is related to human papillomavirus infection and may arise as a single or multiple lesions. It is characterized by the presence of a connective tissue core covered by stratified squamous epithelium. Hoarseness is the presenting symptom. Transformation to carcinoma is rare." "" + "squamous papilloma" "A benign epithelial neoplasm characterized by a papillary growth pattern and a proliferation of neoplastic squamous cells without morphologic evidence of malignancy. Most frequently it arises in the oral cavity, nasopharynx, larynx, esophagus, vagina, and vulva." "" + "syphilitic meningitis" "An infectious meningitis caused by infection with Treponema." "" + "infectious meningitis" "Inflammation of the meninges of the brain and/or spinal cord caused by an infectious agent (viral, bacterial, or fungal). Symptoms include headache, fever, vomiting, neck stiffness, photophobia, confusion, and seizures." "" + "Treponema infectious disease" "An disease caused by infection with Treponema." "" + "bacterial meningitis caused by gram-negative bacteria" "" + "syphilitic encephalitis" "An encephalitis caused by infection with Treponema." "" + "encephalitis" "An acute inflammatory process affecting the brain parenchyma. Causes include viral infections and less frequently bacterial infections, toxins, and immune-mediated processes." "" + "gastric leiomyoma" "A rare benign smooth muscle neoplasm arising from the wall of the stomach. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern. Unlike gastrointestinal stromal tumors, gastric leiomyomas are by definition negative for CD34 and CD117 (C-KIT)." "" + "benign neoplasm of stomach" "A benign neoplasm that involves the stomach." "" + "intracranial abscess" "An abscess that is located in the intracranial space." "" + "central nervous system infectious disorder" "An infectious process that affects the brain and/or spinal cord. Representative examples include encephalitis, poliomyelitis, arachnoiditis, and meningitis." "" + "trypanosomiasis" "Infection with protozoa of the genus trypanosoma." "" + "eyelid degenerative disease" "A neurodegenerative disease that involves the eyelid." "" + "eyelid disease" "A disease involving the eyelid." "" + "eye degenerative disease" "A neurodegenerative disease that involves the eye." "" + "acute hydrops keratoconus" "" + "keratoconus" "A degenerative, structural disorder of the eye, characterized by a cone-shaped protrusion of the cornea. It may lead to visual disturbances." "" + "cerebral artery occlusion" "" + "vascular occlusion disorder" "A disorder characterized by occlusion of blood vessels. It differs from thrombosis in that it can be used to describe any form of blockage, not just one formed by a clot." "" + "cerebrovascular disorder" "A disorder resulting from inadequate blood flow in the vessels that supply the brain. Representative examples include cerebrovascular ischemia, cerebral embolism, and cerebral infarction." "" + "arterial occlusion" "Complete closure of the normally patent lumen of the blood vessels which carry blood away from the heart." "" + "vascular insufficiency disorder" "" + "vein disease" "A disease involving the vein." "" + "psychologic vaginismus" "Involuntary spasm of the outer muscles of the vagina during penetration that results from a psychological cause." "" + "vaginismus" "Tightness of the vaginal wall during vaginal penetration including sexual intercourse. It is caused by involuntary spasm of the pelvic floor muscles, and results in painful intercourse or failure to have intercourse. It may due to psychological conditions, trauma in the vaginal area, or vaginal infection." "" + "mental disorder" "A disease that has its basis in the disruption of mental process." "" + "physiological sexual disorder" "Physiological disturbances in normal sexual performance in either the male or the female." "" + "xerophthalmia" "Dryness of the eye due to inadequate production of tears. Causes include vitamin A deficiency, Sjogren syndrome, rheumatoid arthritis, systemic lupus erythematosus, and scleroderma." "" + "dry eye syndrome" "A syndrome characterized by dryness of the cornea and conjunctiva. It is usually caused by a deficiency in tear production. Symptoms include a feeling of burning eyes and a possible foreign body presence in the eye." "" + "conjunctival degeneration" "" + "conjunctival disorder" "Any disorder of the conjunctiva." "" + "asthenopia" "Term generally used to describe complaints related to refractive error, ocular muscle imbalance, including pain or aching around the eyes, burning and itchiness of the eyelids, ocular fatigue, and headaches." "" + "thymus lymphoma" "A lymphoma that arises from the thymus. Representative examples include mediastinal (thymic) large B-cell lymphoma and Hodgkin lymphoma." "" + "lymphoma" "A malignant (clonal) proliferation of B- lymphocytes or T- lymphocytes which involves the lymph nodes, bone marrow and/or extranodal sites. This category includes Non-Hodgkin lymphomas and Hodgkin lymphomas." "" + "thymus cancer" "A primary or metastatic malignant neoplasm involving the thymus. This category includes malignant thymomas, thymic lymphomas, primary thymic carcinomas, and metastatic carcinomas from other anatomic sites." "" + "mediastinal malignant lymphoma" "A lymphoma that arises from the mediastinum. Representative examples include mediastinal (thymic) large B-cell lymphoma and Hodgkin lymphoma." "" + "cancer of long bone of lower limb" "A cancer that involves the hindlimb long bone." "" + "cancer affecting bone of limb skeleton" "A cancer that involves the limb bone." "" + "cancer of short bone of lower limb" "" + "Meckel diverticulum cancer" "A cancer involving a Meckel's diverticulum." "" + "ileum cancer" "A malignant neoplasm involving the ileum" "" + "Meckel diverticulum neoplasm" "A neoplasm involving a Meckel's diverticulum." "" + "ileal neoplasm" "A benign or malignant neoplasm that affects the wall of the ileum. Representative examples include adenoma, carcinoma, and lymphoma." "" + "small intestine neoplasm" "A benign or malignant neoplasm that affects the small intestine. Representative examples of benign neoplasms include lipoma and leiomyoma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and sarcoma." "" + "lacrimal passage granuloma" "" + "lacrimal apparatus disease" "A non-neoplastic or neoplastic disorder that affects the lacrimal apparatus." "" + "neuroretinitis" "Neuroretinitis is an inflammation of the neural retina and optic nerve. Pathology: Direct invasion or autoimmune activation against the optic nerve may cause optic nerve vascular inflammation with secondary inflammation and edema in the nerve fiber layer of the retina." "" + "neuritis" "A neuropathy arising from inflammation of one or more nerves." "" + "retinal nerve fibre layer disorder" "A disease that involves the nerve fiber layer of retina." "" + "optic papillitis" "Swelling of the optic disk, usually in association with increased intracranial pressure, characterized by hyperemia, blurring of the disk margins, microhemorrhages, blind spot enlargement, and engorgement of retinal veins. Chronic papilledema may cause optic atrophy and visual loss. (Miller et al., Clinical Neuro-Ophthalmology, 4th ed, p175)" "" + "malignant hypertensive renal disease" "" + "malignant hypertension" "Severe hypertension that is characterized by rapid onset of extremely high blood pressure." "" + "hypertensive nephropathy" "Kidney damage that results from chronically elevated blood pressure; complications include glomerular damage resulting in proteinuria and hematuria." "" + "genetic hypertension" "An instance of hypertension that is caused by a modification of the individual's genome." "" + "renal hypertension" "Hypertension caused by the kidney's hormonal response to narrowing or occlusion of the renal arteries." "" + "diabetic peripheral angiopathy" "Diabetic angiopathy is a form of angiopathy associated with diabetic complications." "" + "peripheral vascular disease" "Any disorder affecting blood flow through the veins or arteries outside of the heart." "" + "type 2 diabetes mellitus" "A type of diabetes mellitus that is characterized by insulin resistance or desensitization and increased blood glucose levels. This is a chronic disease that can develop gradually over the life of a patient and can be linked to both environmental factors and heredity." "" + "endobronchial lipoma" "A rare benign adipose tissue neoplasm located within the lumen of a bronchus. It is predominantly found in males and usually originates within the fatty tissue between bronchial cartilage. May cause irreversible pulmonary damage distally. Two-thirds of the tumors occur on the right side and most are located on the first three subdivisions of the tracheobronchial tree." "" + "bronchial neoplasm" "Tumors or cancer of the bronchi." "" + "lipoma" "A benign, usually painless, well-circumscribed lipomatous tumor composed of adipose tissue." "" + "benign soft tissue neoplasm" "A non-metastasizing neoplasm that arises from the soft tissue." "" + "lung benign neoplasm" "A non-metastasizing neoplasm that arises from the lung parenchyma or the bronchi. Representative examples include lung adenoma, lung hamartoma, and endobronchial lipoma." "" + "spindle cell lipoma" "A benign circumscribed tumor composed of spindled cells, adipocytes, and collagen bundles. There is no evidence of nuclear hyperchromasia or mitotic activity." "" + "spindle cell neoplasm" "A benign or malignant neoplasm characterized by the presence of neoplastic spindle cells." "" + "esophageal lipoma" "A benign adipose tissue neoplasm of the esophagus. Clinical presentation includes obstruction, dysphagia, regurgitation, vomiting and reflux. It may be associated with aspiration and consecutive respiratory infections." "" + "benign neoplasm of esophagus" "A benign neoplasm that involves the esophagus." "" + "skin lipoma" "A benign or malignant adipose tissue neoplasm of the skin." "" + "liver lipoma" "A rare benign adipose tissue neoplasm of the liver." "" + "liver neoplasm" "A benign or malignant epithelial neoplasm that affects the liver parenchyma and intrahepatic bile ducts. Representative examples of benign epithelial neoplasms include hepatocellular adenoma and intrahepatic bile duct adenoma. Representative examples of malignant epithelial neoplasms include hepatocellular carcinoma and intrahepatic cholangiocarcinoma." "" + "pleomorphic lipoma" "A benign circumscribed tumor characterized by small spindle cells, rounded hyperchromatic cells and multinucleated giant cells with radially arranged nuclei." "" + "conventional lipoma" "A benign well-circumscribed tumor, composed of lobules of mature adipocytes, that arises within subcutaneous tissue, deep soft tissues or on the surface of bones." "" + "kidney lipoma" "A rare benign adipose tissue neoplasm of the kidney. It predominantly affects middle-aged females. It may originate from renal parenchymal fat or fat cells within the renal capsule. Clinical presentation includes hematuria and pain." "" + "kidney benign neoplasm" "A non-metastasizing neoplasm that arises from the kidney. Representative examples include cystic nephroma, metanephric adenoma, oncocytoma, and urothelial papilloma of the renal pelvis." "" + "pleural lipoma" "A benign adipose tissue neoplasm of the pleural cavity. It may be purely intra-thoracic or extend to the chest wall." "" + "benign neoplasm of pleura" "A benign neoplasm that involves the pleura." "" + "breast lipoma" "A benign, mesenchymal neoplasm that arises from the breast. It is surrounded by a thin capsule and composed of mature adipose tissue cells. Atypia is absent." "" + "chest wall lipoma" "A benign adipose tissue neoplasm of the chest wall." "" + "benign neoplasm of chest wall" "A benign neoplasm that involves the chest wall." "" + "gallbladder lipoma" "A benign adipose tissue neoplasm involving the gallbladder wall." "" + "inherited soft tissue tumor" "An instance of mesenchymal cell neoplasm that is caused by an inherited modification of the individual's genome." "" + "benign neoplasm of gallbladder" "A benign neoplasm that involves the gall bladder." "" + "hereditary disorder of connective tissue" "An inherited genetic disorder that affects the connective tissues. Representative examples include Ehlers-Danlos syndrome and Marfan syndrome." "" + "biliary tract neoplasm" "A neoplasm that involves the biliary tract." "" + "external ear lipoma" "A benign adipose tissue neoplasm of the external ear." "" + "external ear neoplasm" "A neoplasm (disease) that involves the external ear." "" + "benign neoplasm of ear" "A benign neoplasm that involves the ear." "" + "axillary lipoma" "A benign adipose tissue neoplasm of the axilla." "" + "benign axillary neoplasm" "A non-metastasizing neoplasm that arises from the structures of the axilla." "" + "lipoma of spermatic cord" "A benign adipose tissue neoplasm of the spermatic cord. This is the most common tumor amongst the benign paratesticular lesions." "" + "paratesticular lipoma" "A rare benign adipose tissue neoplasm of the paratesticular tissues. It is incidentally discovered and presents as a non-tender scrotal mass. It affects patients over a wide age range." "" + "male reproductive system neoplasm" "A benign, borderline, or malignant neoplasm that affects the male reproductive system. Representative examples include benign prostate phyllodes tumor, benign testicular Sertoli cell tumor, prostatic intraepithelial neoplasia, prostate carcinoma, testicular seminoma, and testicular embryonal carcinoma." "" + "chondroid lipoma" "A rare benign adipose tissue neoplasm characterized by nests and cord of abundant univacuolated and multivacuolated lipoblasts and mature adipocytes in a prominent myxoid to hyalinized chondroid matrix admix. It predominantly affects females." "" + "extrahepatic bile duct lipoma" "A rare benign adipose tissue neoplasm of the extrahepatic bile duct." "" + "extrahepatic bile duct neoplasm" "A benign or malignant neoplasm that affects the extrahepatic bile ducts. Representative examples include adenoma and adenocarcinoma." "" + "pinta disease" "An endemic bacterial infection caused by Treponema carateum. It is manifested with chronic cutaneous lesions. The early lesions consist of papules and erythematous plaques. The late lesions consist of hypochromic, achromic, hyperpigmented and atrophic lesions. The late skin lesions may cause destruction of bones and cartilage and produce disfiguring changes." "" + "aortic atherosclerosis" "A atherosclerosis that involves the aorta." "" + "atherosclerosis" "Build-up of fatty material and calcium deposition in the arterial wall resulting in partial or complete occlusion of the arterial lumen." "" + "aortic disease" "Pathology involving the thoracic, thoracoabdominal, or abdominal aorta (including aneurysms). (ACC)" "" + "Histoplasma pericarditis" "An pericarditis (disease) caused by infection with Histoplasma." "" + "pericarditis" "An inflammatory process affecting the pericardium." "" + "histoplasmosis" "A disease caused by the fungus Histoplasma capsulatum. It primarily affects the lungs but can also occur as a disseminated disease that affects additional organs. The acute respiratory disease has symptoms similar to those of a cold or flu and it usually resolves without treatment in healthy individuals. The disseminated form is generally fatal if untreated." "" + "obsolete Brown's tendon sheath syndrome" "" "true" + "exhibitionism" "A disorder characterized by recurrent sexual urges, fantasies, or behaviors involving the exposure of one's genitals to an unsuspecting stranger." "" + "thalassemia" "An inherited blood disorder characterized by a decreased synthesis of one of the polypeptide chains that form hemoglobin. Anemia results from this abnormal hemoglobin formation." "" + "inherited hemoglobinopathy" "An inherited disorder characterized by structural alterations of a globin chain within the hemoglobin molecule." "" + "hemolytic anemia" "Anemia resulting from the premature destruction of the peripheral blood red cells. It may be congenital or it may be caused by infections, medications, or malignancies." "" + "obsolete ehrlichiosis" "" "true" + "pleurisy" "Inflammation of the pleura. It is usually caused by infections. Chest pain while breathing or coughing is the presenting symptom." "" + "pleural disease" "A non-neoplastic or neoplastic disorder that affects the pleura. Representative examples include pleural infection, pleural mesothelioma, and pleural solitary fibrous tumor." "" + "serositis" "Inflammation of a serous membrane." "" + "cholesterolosis of gallbladder" "A disorder characterized by a change in the gallbladder wall due to excess cholesterol." "" + "gallbladder disease" "A disease involving the gall bladder." "" + "discharging ear" "Discharge or drainage of fluid from the ear." "" + "auditory system disease" "A disease involving the auditory system." "" + "mumps infectious disease" "A contagious viral infection caused by the mumps virus. Symptoms include swollen and tender parotid glands, fever, muscle aches and fatigue. Due to vaccination programs, mumps has become a rare disease." "" + "Paramyxoviridae infectious disease" "Infections with viruses of the family paramyxoviridae. This includes morbillivirus infections; respirovirus infections; pneumovirus infections; henipavirus infections; avulavirus infections; and rubulavirus infections." "" + "acute subendocardial myocardial infarction" "Acute form of subendocardial myocardial infarction." "" + "subendocardial myocardial infarction" "An electrocardiographic finding of an injury in leads corresponding to the anatomic region of the subendocardial layer of the wall of the heart." "" + "acute myocardial infarction" "Necrosis of the myocardium, as a result of interruption of the blood supply to the area. It is characterized by a severe and rapid onset of symptoms that may include chest pain, often radiating to the left arm and left side of the neck, dyspnea, sweating, and palpitations." "" + "obsolete left bundle branch block" "A bundle branch block in which the activation of the left ventricle is delayed." "" "true" + "prostate squamous cell carcinoma" "An invasive prostate carcinoma characterized by the presence of squamous differentiation of the malignant cellular infiltrate. There is no evidence of glandular differentiation." "" + "prostate carcinoma" "A carcinoma that arises from epithelial cells of the prostate gland." "" + "malignant prostate phyllodes tumor" "An unusual malignant tumor that arises from the prostate gland. It is characterized by the presence of glandular elements and a cellular stroma that exhibits mitotic activity and nuclear atypia." "" + "malignant urinary system neoplasm" "A primary or metastatic malignant tumor involving the urinary system. Common tumor types include carcinomas, lymphomas, and sarcomas." "" + "prostate cancer" "A primary or metastatic malignant tumor involving the prostate gland. The vast majority are carcinomas." "" + "prostate phyllodes tumor" "An unusual, biphasic benign or malignant neoplasm that arises from the prostate gland. It is characterized by the presence of an epithelial glandular component and a proliferating stroma." "" + "malignant phyllodes tumor" "A phyllodes tumor with sarcomatous stroma. The sarcomatous component is usually of the fibrosarcomatous type. Liposarcomatous, chondrosarcomatous, osteosarcomatous, or rhabdomyosarcomatous differentiation may also occur in the stroma. It may recur and metastasize following surgical resection. The lung and skeleton are the anatomic sites most frequently involved by metastases." "" + "familial periodic paralysis" "A group of genetic neurological disorders caused by mutations in genes involved in the sodium and calcium channels in nerve cells. It is characterized by episodes of muscle paralysis in which the affected muscles become flaccid and the deep tendon reflexes disappear. Between the episodes the affected muscles usually work normally." "" + "periodic paralysis" "" + "inborn metal metabolism disorder" "An inherited metabolic disorder that involves metabolic disturbances in the processing or distribution of dietary minerals." "" + "metabolic myopathy" "A group of rare inherited disorders characterized by a deficiency of enzymes that are involved in metabolic pathways that affect muscles. The disorders are characterized by muscle dysfunction." "" + "prostate lymphoma" "A rare non-Hodgkin or Hodgkin lymphoma that arises from the prostate gland." "" + "monocular esotropia" "A form of ocular misalignment characterized by an excessive convergence of the visual axes, resulting in a 'cross-eye' appearance. An example of this condition occurs when paralysis of the lateral rectus muscle causes an abnormal inward deviation of one eye on attempted gaze." "" + "esotropia" "A form of strabismus in which one or both eyes are deviated medially." "" + "obsolete parotid disease" "" "true" + "obsolete pneumoconiosis" "" "true" + "mixed mineral dust pneumoconiosis" "Pneumoconiosis caused by the inhalation of mixed mineral dust particles." "" + "pneumoconiosis" "An occupational lung disorder caused by inhalation of dust particles. It is characterized by bilateral interstitial lung infiltrates. Representative examples include asbestosis, silicosis, anthracosis, and talc pneumoconiosis." "" + "baritosis" "A rare type of pneumoconiosis caused by long standing exposure to barium dust. It is characterized by the formation of fine dense lesions in the lung parenchyma. The lesions do not affect the lung function and disappear without treatment after the exposure to barium dust stops." "" + "obsolete pulmonary siderosis" "" "true" + "pneumoconiosis due to talc" "Pneumoconiosis caused by exposure to talc. It is characterized by fibrosis and granulomatous changes in the lung parenchyma. Chest x-rays reveal diffuse lung opacities and pleural abnormalities." "" + "slate pneumoconiosis" "Pneumoconiosis caused by exposure to slate dust." "" + "kaolin pneumoconiosis" "Pneumoconiosis caused by inhalation of kaolin dust." "" + "glaucomatous atrophy of optic disc" "" + "optic atrophy" "A disorder characterized by loss of optic nerve fibers. It may be inherited or acquired. Acquired causes include ischemia, optic nerve neuropathy, glaucoma, trauma, radiation, brain tumors, and multiple sclerosis. It leads to vision disturbances." "" + "glaucoma" "Increased pressure in the eyeball due to obstruction of the outflow of aqueous humor." "" + "chronic meningitis" "Chronic form of meningitis (disease)." "" + "blepharophimosis" "The abnormal narrowness of the palpebral fissure in the horizontal direction caused by the lateral displacement of the medial canthi of the eyelids. (Dorland, 27th ed)" "" + "solitary cyst of breast" "A single, fluid-filled cyst in the breast parenchyma." "" + "breast cyst" "A cystic lesion located in breast tissue." "" + "obsolete natural killer cell leukemia" "" "true" + "obsolete breast fibroadenosis" "" "true" + "obsolete fibrosclerosis of breast" "" "true" + "chronic leukemia" "A slowly progressing leukemia characterized by a clonal (malignant) proliferation of maturing and mature myeloid cells or mature lymphocytes. When the clonal cellular population is composed of myeloid cells, the process is called chronic myelogenous leukemia. When the clonal cellular population is composed of lymphocytes, it is classified as chronic lymphocytic leukemia, hairy cell leukemia, or T-cell large granular lymphocyte leukemia." "" + "leukemia" "A malignant (clonal) hematologic disorder, involving hematopoietic stem cells and characterized by the presence of primitive or atypical myeloid or lymphoid cells in the bone marrow and the blood. Leukemias are classified as acute or chronic based on the degree of cellular differentiation and the predominant cell type present. Leukemia is usually associated with anemia, fever, hemorrhagic episodes, and splenomegaly. Common leukemias include acute myeloid leukemia, chronic myelogenous leukemia, acute lymphoblastic or precursor lymphoblastic leukemia, and chronic lymphocytic leukemia. Treatment is vital to patient survival; untreated, the natural course of acute leukemias is normally measured in weeks or months, while that of chronic leukemias is more often measured in months or years." "" + "eosinophilic meningitis" "Meningitis in which eosinophils predominate in the cerebrospinal fluid." "" + "epididymis cancer" "A primary or metastatic malignant neoplasm that affects the epididymis. Representative examples include primary epididymal adenocarcinoma and metastatic carcinoma to the epididymis arising from another anatomic site." "" + "epididymal neoplasm" "A benign or malignant neoplasm that affects the epididymis. Representative examples include epididymal adenomatoid tumor and epididymal adenocarcinoma." "" + "male reproductive organ cancer" "A primary or metastatic malignant neoplasm involving the male reproductive system. Representative examples include prostate carcinoma, penile carcinoma, testicular seminoma, and testicular embryonal carcinoma." "" + "epididymal adenocarcinoma" "A rare adenocarcinoma that arises from the epididymis. It usually presents as a scrotal mass and may be associated with testicular pain." "" + "obsolete lymphoblastic leukemia" "" "true" + "suppression amblyopia" "A nonspecific term referring to impaired vision. Major subcategories include stimulus deprivation-induced amblyopia and toxic amblyopia. Stimulus deprivation-induced amblyopia is a developmental disorder of the visual cortex. A discrepancy between visual information received by the visual cortex from each eye results in abnormal cortical development. strabismus and refractive errors may cause this condition. Toxic amblyopia is a disorder of the optic nerve which is associated with alcoholism, tobacco smoking, and other toxins and as an adverse effect of the use of some medications." "" + "amblyopia" "Decreased vision that results from abnormal visual development." "" + "ametropic amblyopia" "" + "disuse amblyopia" "" + "prolymphocytic leukemia" "A mature B- or T- cell leukemia with progressive clinical course. It is characterized by the presence of medium-sized lymphocytes with visible nucleoli (prolymphocytes) in the peripheral blood, bone marrow, and spleen." "" + "pneumonic plague" "A plague in which the bacteria have infected the lungs." "" + "plague" "Plague is a severe bacterial infection caused by the gram-negative bacterium Yersinia pestis." "" + "seminal vesicle chronic gonorrhea" "Chronic form of gonococcal seminal vesiculitis." "" + "obsolete bacterial infectious disease" "A infectious disease involving the Bacteria." "" "true" + "gonorrhea" "A common sexually transmitted bacterial infection caused by Neisseria gonorrhoeae. It is transmitted through vaginal, oral, or anal intercourse. Infected individuals may be asymptomatic. Symptoms in males include burning sensation during urination, discharge from the penis, and painful swelling of the testes. Symptoms in females include painful urination, vaginal discharge, and vaginal bleeding between periods. If untreated, the infection may lead to pelvic inflammatory disease." "" + "vesiculitis" "An inflammatory disease involving a pathogenic inflammatory response in the seminal vesicle." "" + "acute pericementitis" "An acute inflammatory process that affects the tissues that surround and support the teeth." "" + "periodontitis" "An acute or chronic inflammatory process that affects the tissues that surround and support the teeth." "" + "Klippel-Feil syndrome" "A congenital, musculoskeletal condition characterized by the fusion of at least two vertebrae of the neck. Common symptoms include a short neck, low hairline at the back of the head, and restricted mobility of the upper spine. This syndrome can cause chronic headaches as well as pain in both the neck and the back.Other features may involve various other body parts or systems. Sometimes, KFS occurs as a feature of another disorder or syndrome, such as Wildervanck syndrome or hemifacial microsomia. In these cases, people have the features of both KFS and the additional disorder. KFS may be caused by mutations in the GDF6 or GDF3 gene and inherited in an autosomal dominant manner; or, it may be caused by mutations in the MEOX1 gene and inherited in an autosomal recessive manner. Treatment is symptomatic and may include medications, surgery, and/or physical therapy." "" + "keratoconus, stable condition" "" + "purulent acute otitis media" "Acute form of suppurative otitis media." "" + "suppurative otitis media" "Inflammation of the middle ear with purulent discharge." "" + "Mooren ulcer" "" + "corneal ulcer" "Area of epithelial tissue loss from corneal surface; associated with inflammatory cells in the cornea and anterior chamber." "" + "mycotic corneal ulcer" "" + "marginal corneal ulcer" "" + "hypopyon ulcer" "" + "hypopyon" "An accumulation of pus in the anterior chamber of the eye." "" + "infectious anterior uveitis" "An infectious disease involving a pathogenic inflammatory response in the anterior uvea." "" + "ring corneal ulcer" "" + "perforated corneal ulcer" "" + "lymphoid system disease" "A disease or disorder that involves the lymphoid system." "" + "nasopharyngeal disease" "A non-neoplastic or neoplastic disorder that affects the nasopharynx. Representative examples include nasopharyngitis, angiofibroma, and carcinoma." "" + "dentin caries" "A dental caries that involves the dentine." "" + "dental caries" "The decay of a tooth, in which it becomes softened, discolored, and/or porous." "" + "patellar tendinitis" "A tendinitis that involves the patella." "" + "tendinitis" "Inflammation of a tendon, usually resulting from an overuse injury. It is characterized by swelling of the tendon, tenderness around the inflamed tendon, and pain while moving the affected area of the body." "" + "obsolete diaphragm disease" "" "true" + "esophageal atresia" "A congenital abnormality of the esophagus in which the upper esophagus ends as a blind pouch and does not connect with the lower esophagus; it is often accompanied by a tracheoesophageal fistula. Signs and symptoms in a newborn with this abnormality include excessive salivation, choking, coughing, and the development of cyanosis and respiratory distress when fed." "" + "esophageal disease" "A non-neoplastic or neoplastic disorder that affects the esophagus. Representative examples of non-neoplastic disorders include esophagitis and esophageal ulcer. Representative examples of neoplastic disorders include carcinomas, lymphomas, and melanomas." "" + "intestinal atresia" "A congenital malformation characterized by the absence of a normal opening in a part of the intestine. It can occur either in the small or the large intestine." "" + "intestinal disease" "A non-neoplastic or neoplastic disorder that affects the small or large intestine." "" + "imperforate anus" "A congenital birth defect characterized by the absence of a normal anal opening. It may be associated with other congenital abnormalities." "" + "anus disease" "A non-neoplastic or neoplastic disorder that affects the anal canal or anal margin. Representative examples of non-neoplastic disorders include hemorrhoids and anal ulcer. Representative examples of neoplastic disorders include carcinoma, lymphoma, and melanoma." "" + "isolated anorectal malformation" "Anorectal malformations (ARM) comprise a wide spectrum of malformations involving the distal anus and rectum as well as the urinary and genital tracts, which can affect boys and girls." "" + "obsolete adrenal cortical hypofunction" "" "true" + "orbital granuloma" "A granuloma located on the orbit of the eye." "" + "chronic orbital inflammation" "" + "Dressler syndrome" "A pericarditis characterized by inflammation, occurring after injury, located in pericardium." "" + "malignant otitis externa" "An otitis externa which involves infection of the external ear that has spread to involve the skull bone containing part of the ear canal, the middle ear, and the inner ear. It is caused by the bacteria Pseudomonas. This is common in people with weakened immune systems and in older people with diabetes." "" + "acute otitis externa" "Acute form of otitis externa." "" + "chronic fungal otitis externa" "Chronic form of otomycosis." "" + "acute infection of pinna" "An otitis externa which involves bacterial infections often related to underlying comorbidities as well as trauma. Common sources of trauma include ear piercing, boxing, blunt trauma, burns, bite wounds and iatrogenic insults. The common bacterial pathogens are staphylococcal and streptococcal species." "" + "double pterygium" "" + "pterygium" "A wedge-shaped fibrovascular lesion arising from the bulbar conjunctiva and extending to the cornea. It is caused by chronic exposure to solar ultraviolet radiation, heat, and dust. It may cause severe vision loss. Studies have linked pterygium to neoplastic proliferation and suggest that it may be a stem cell disorder." "" + "conjunctival pterygium" "" + "gastric cancer" "A primary or metastatic malignant neoplasm involving the stomach." "" + "digestive system cancer" "A primary or metastatic malignant neoplasm involving any part of the digestive system." "" + "gastric neoplasm" "A benign or malignant neoplasm involving the stomach." "" + "malignant gastric granular cell tumor" "A metastasizing granular cell tumor that arises from the stomach." "" + "granular cell cancer" "An uncommon granular cell tumor which may metastasize to other anatomic sites. Morphologic characteristics include the presence of spindling neoplastic cells, necrosis, extensive pleomorphism, prominent nucleoli, and increased mitiotic activity." "" + "obsolete gastric fundus cancer" "" "true" + "gastric lymphoma" "An extranodal lymphoma that arises from the stomach with the bulk of the mass located in the stomach. The vast majority of cases are diffuse large B-cell lymphomas and B-cell lymphomas of the mucosa-associated lymphoid tissue." "" + "gastrointestinal lymphoma" "A non-Hodgkin or Hodgkin lymphoma that arises from any part of the digestive system, with the bulk of the disease localized to that site." "" + "microinvasive gastric cancer" "An invasive adenocarcinoma confined to the mucosa or mucosa and submucosa of the gastric wall. The regional lymph nodes may or may not be involved. It usually occurs in the lesser curvature. The 5-year survival rate following resection is between 80 percent and 95 percent, and remains high even when lymph node metastases are present." "" + "gastric adenocarcinoma" "A carcinoma that arises from glandular epithelial cells of the stomach" "" + "pylorus cancer" "A malignant neoplasm involving the pylorus." "" + "pyloric antrum cancer" "A malignant neoplasm involving the pyloric antrum." "" + "cardia cancer" "A malignant neoplasm involving the cardia of stomach." "" + "acute eustachian salpingitis" "Acute form of otosalpingitis." "" + "otosalpingitis" "An inflammatory disease involving a pathogenic inflammatory response in the pharyngotympanic tube." "" + "supine hypotensive syndrome" "A vascular disease that is characterized by severe supine hypotension in late pregnancy, whose clinical presentation ranges from minimal cardiovascular alterations to severe shock, resulting from inferior vena cava compression by gravid uterus." "" + "hypotensive disorder" "Blood pressure that is abnormally low." "" + "late yaws" "Late yaws is the tertiary, non-contagious stage of yaws, endemic tropical treponemal nonvenereal infection. Late yaws is characterized by destructive and deforming lesions of the skin, bones, and joints." "" + "yaws" "An endemic, infectious, nonvenereal disease in humans that presents mainly in children younger than 15 years. The disease occurs primarily in warm, humid, tropical areas of Africa, Asia, South America, and Oceania, among poor rural populations where conditions of overcrowding and poor sanitation prevail. Infection with Treponema pertenue, a subspecies of Treponema pallidum, causes the disease." "" + "cutaneous syphilis" "Cutaneous lesions arising from infection with Treponema pallidum. In the primary stage, 18-21 days following infection, one or more chancres appear. If untreated, the subsequent stages of the disease appear as syphilids. These eruptions are superficial, nondestructive, exanthematic, transient, macular roseolas that may later be maculopapular or papular polymorphous or scaly, pustular, pigmented eruptions.(Arnold, Odom, and James, Andrew's Diseases of the Skin, 8th ed, p409)" "" + "early yaws" "Early yaws includes primary and secondary stages of yaws, endemic tropical treponemal nonvenereal infection: development of initial lesion at inoculation site followed by widespread dissemination of treponemes and generalized secondary granulomatous lesions that may relapse repeatedly." "" + "osteomalacia" "A metabolic bone disease that results from either a deficiency in vitamin D, or an abnormality in the metabolism of vitamin D, or a deficiency of calcium in the diet. The most common symptoms are bone pain and muscle weakness. When it occurs in children it is commonly referred to as rickets. (Diagnostic Surgical Pathology, 3rd ed.) --2003" "" + "obsolete leukodystrophy" "" "true" + "obsolete adrenoleukodystrophy" "" "true" + "mild pre-eclampsia" "A pre-eclampsia characterized by the presence of hypertension without evidence of end-organ damage, in a woman who was normotensive before 20 weeks' gestation." "" + "preeclampsia" "Preeclampsia is a hypertensive disorder of pregnancy that is characterized by new-onset hypertension with proteinuria presenting after 20 weeks of gestation, and depending on mild or severe forms may initially present with severe headache, visual disturbances, and hyperreflexia." "" + "idiopathic progressive polyneuropathy" "" + "polyneuropathy" "A disease or disorder affecting more than one nerve." "" + "chronic tic disorder" "A neurological disorder presenting in childhood that is characterized by either motor or phonic tics, but not both, that occur daily or nearly daily for at least a year and are not attributed to an identifiable cause." "" + "tic disorder" "Disorders characterized by recurrent TICS that may interfere with speech and other activities. Tics are sudden, rapid, nonrhythmic, stereotyped motor movements or vocalizations which may be exacerbated by stress and are generally attenuated during absorbing activities. Tic disorders are distinguished from conditions which feature other types of abnormal movements that may accompany another another condition. (From DSM-IV, 1994)" "" + "steatorrhea" "A finding of an excessive amount of fat in the stool." "" + "glucose intolerance" "The inability to regulate blood glucose levels resulting in hyperglycemia." "" + "glucose metabolism disease" "A metabolic disorder characterized by abnormal blood glucose levels." "" + "glucose-galactose malabsorption" "Glucose-galactose malabsorption (GGM) is a very rare, potentially lethal, genetic metabolic disease characterized by impaired glucose-galactose absorption resulting in severe watery diarrhea and dehydration with onset inthe neonatal period." "" + "hyperglycemia" "Abnormally high level of glucose in the blood." "" + "obsolete short bowel syndrome" "" "true" + "tropical sprue" "A rare disorder of the digestive tract characterized by malabsorption and anemia. It is likely caused by infection leading to small intestinal mucosal injury, bacterial overgrowth and inflammatory changes. It is most prevalent in residents and visitors to tropical and subtropical climates. Clinical signs include anorexia, abdominal bloating, diarrhea and weight loss. Clinical course may progress to deficiencies of folate, vitamin B12 and iron. Prognosis is favorable with nutrient replacement and antibiotic therapy, however relapses are common." "" + "malabsorption syndrome" "A syndrome resulting from the inadequate absorption of nutrients in the small intestine. Symptoms include abdominal pain, bloating, and diarrhea." "" + "pancreatic steatorrhea" "" + "pancreas disease" "A non-neoplastic or neoplastic disorder that affects the pancreas. Representative examples of non-neoplastic disorders include pancreatitis and pancreatic insufficiency. Representative examples of neoplastic disorders include cystadenomas, carcinomas, lymphomas, and neuroendocrine neoplasms." "" + "acute gonococcal cervicitis" "Acute form of gonococcal cervicitis." "" + "gonococcal cervicitis" "" + "acute cervicitis" "Acute inflammation of the cervix. Clinical manifestations include mucopurulent vaginal discharge and burning sensation." "" + "cervicitis" "An acute or chronic inflammatory process that affects the cervix. Causes include sexually transmitted diseases and bacterial infections. Clinical manifestations include abnormal vaginal bleeding and vaginal discharge." "" + "lymph node neoplasm" "A neoplasm involving a lymph node." "" + "Fanconi renotubular syndrome" "A genetic or acquired disorder characterized by impairment of the function of the proximal tubules of the kidney. It results in decreased reabsorption of electrolytes, glucose, amino acids, and other nutrients." "" + "renal tubular transport disease" "Genetic defects in the selective or non-selective transport functions of the kidney tubules." "" + "renal tubule disease" "A disease that involves the renal tubule." "" + "primary optic atrophy" "" + "interstitial nephritis" "Inflammation of the renal tubules and supporting tissues of the kidney." "" + "nephritis" "Inflammation of renal tissue." "" + "partial optic atrophy" "" + "schizotypal personality disorder" "A disorder characterized by an enduring pattern of inability to establish close relationships coupled with cognitive or perceptual distortions, odd beliefs and speech, and eccentric behavior and appearance." "" + "personality disorder" "A diverse category of psychiatric disorders characterized by behavior that deviates markedly from the expectations of the individual's culture; this pattern of deviation is pervasive and inflexible and is stable over time. The behavioral pattern negatively interferes with relationships and work." "" + "acute inferoposterior infarction" "" + "acute inferolateral myocardial infarction" "" + "acute anterolateral myocardial infarction" "Acute form of anterolateral myocardial infarction." "" + "anterolateral myocardial infarction" "Myocardial infarction in which the anterior wall of the heart is involved. Anterior wall myocardial infarction is often caused by occlusion of the left anterior descending coronary artery. It can be categorized as anteroseptal or anterolateral wall myocardial infarction." "" + "lipoma of colon" "A benign adipose tissue neoplasm originating in the colon. It is the second most common benign lesion of the colon after benign adenomatous polyps. Older patients are more likely to be affected, and most lesions are located at the right side of large bowel. Colon lipomas may lead to intestinal obstruction." "" + "colorectal lipoma" "A rare benign adipose tissue neoplasm arising from the wall of the colon and rectum." "" + "colon leiomyoma" "A well-circumscribed benign smooth muscle neoplasm arising from the colon. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern." "" + "colorectal leiomyoma" "A well-circumscribed benign smooth muscle neoplasm arising from the colorectal area. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern." "" + "colonic lymphangioma" "A lymphangioma arising from the colon." "" + "lymphangioma" "A benign lesion composed of dilated lymphatic channels. Painless swelling is the usual clinical manifestation." "" + "residual stage of open angle glaucoma" "" + "open-angle glaucoma" "Chronic outflow obstruction of the eye's drainage canals that can lead to increased internal eye pressure and optic nerve damage." "" + "mediastinum neuroblastoma" "A neuroblastoma arising from the mediastinum." "" + "mediastinal neural neoplasm" "A neurogenic tumor that arises from the mediastinum. Neural tumors are the most common tumors that arise from the posterior mediastinum. Representative examples include Schwannoma, neurofibroma, and neuroblastoma." "" + "mediastinal cancer" "A malignant neoplasm involving the mediastinum" "" + "peripheral nervous system cancer" "Malignant growth of cells in the peripheral nervous system (PNS)or Autonomic Nervous System (ANS), without specification as to location" "" + "mediastinum ganglioneuroblastoma" "A ganglioneuroblastoma arising from the mediastinum." "" + "ganglioneuroblastoma" "A neuroblastic tumor characterized by the presence of neuroblastic cells, ganglion cells, and a stroma with Schwannian differentiation constituting more than fifty-percent of the tumor volume. There are two histologic subtypes identified: ganglioneuroblastoma, intermixed and ganglioneuroblastoma, nodular." "" + "peripheral ganglioneuroblastoma" "A ganglioneuroblastoma arising from the peripheral nervous system." "" + "obsolete juvenile glaucoma" "" "true" + "separation anxiety disorder" "An anxiety disorder characterized by recurrent excessive distress due to fear of separation from the home or from major attachment figures; the distress is developmentally inappropriate and causes impairment in social, academic, or other areas of functioning." "" + "anxiety disorder" "A category of psychiatric disorders which are characterized by anxious feelings or fear often accompanied by physical symptoms associated with anxiety." "" + "lactocele" "Single or multiple, milk-containing nodules in the breast. It is caused by obstruction of the breast ducts during lactation. Needle aspiration of the milk is the treatment of choice." "" + "lactation disease" "" + "hypertrophy of breast" "Excessive enlargement of one or both breasts. Causes include pregnancy, obesity, and penicillamine therapy. It may result in neck, back, and shoulder pain." "" + "fat necrosis of breast" "Localized necrosis of the adipose tissue in the breast. Clinically, it may present as a mass. Causes include injury, surgical procedures, and radiation treatment." "" + "obsolete chronic endophthalmitis" "" "true" + "giardiasis" "An infection of the small intestine caused by the flagellated protozoan giardia lamblia. It is spread via contaminated food and water and by direct person-to-person contact." "" + "parasitic intestinal disease" "Infections of the INTESTINES with PARASITES, commonly involving PARASITIC WORMS. Infections with roundworms (NEMATODE INFECTIONS) and tapeworms (CESTODE INFECTIONS) are also known as HELMINTHIASIS." "" + "toxic diffuse goiter" "" + "hyperthyroidism" "Overactivity of the thyroid gland resulting in overproduction of thyroid hormone and increased metabolic rate. Causes include diffuse hyperplasia of the thyroid gland (Graves' disease), single nodule in the thyroid gland, and thyroiditis. The symptoms are related to the increased metabolic rate and include weight loss, fatigue, heat intolerance, excessive sweating, diarrhea, tachycardia, insomnia, muscle weakness, and tremor." "" + "secondary hypertension" "High blood pressure caused by an underlying medical condition." "" + "obsolete cerebral lipidosis" "" "true" + "broad ligament malignant neoplasm" "A malignant neoplasm involving the broad ligament of uterus." "" + "uterine adnexa cancer" "" + "disease of uterine broad ligament" "A disease or disorder that involves the broad ligament of uterus." "" + "petrositis" "Inflammation of petrous bone." "" + "osteomyelitis" "An acute or chronic inflammation of the bone and its structures due to infection with pyogenic bacteria." "" + "skull disorder" "A non-neoplastic or neoplastic disorder that affects structures of the skull." "" + "chronic pyelonephritis" "Persistent pyelonephritis." "" + "pyelonephritis" "An inflammatory process affecting the kidney. The cause is most often bacterial, but may also be fungal in nature. Signs and symptoms may include fever, chills, flank pain, painful and frequent urination, cloudy or bloody urine, and confusion." "" + "chronic kidney disease" "Impairment of the renal function secondary to chronic kidney damage persisting for three or more months." "" + "obsolete thrombotic thrombocytopenic purpura" "" "true" + "Fiedler's myocarditis" "" + "myocarditis" "Myocarditis is a condition that is characterized by inflammation of the heart muscle (myocardium). Some affected people have no noticeable symptoms of the condition. When present, signs and symptoms may include chest pain, abnormal heartbeat, shortness of breath, fatigue, signs of infection (i.e. fever, headache, sore throat, diarrhea), and leg swelling. Myocarditis can be caused by a variety of factors including infections (viral, bacterial, parasitic, and fungal), allergic reactions to certain medications, and exposure to certain chemicals. It can also be associated with other inflammatory conditions such as lupus, Wegener's granulomatosis, giant cell arteritis and Takayasu's arteritis. Most cases occur sporadically in people with no family history of the condition. Treatment aims to address the underlying cause of the condition. Medications and rarely, a heart transplant may be needed if the heart muscle becomes weak." "" + "acute myocarditis" "The sudden onset of inflammation of heart muscle with myocellular necrosis; this is generally secondary to an infectious cause, and patients often have a recent history of a flu-like illness." "" + "bacterial myocarditis" "Myocarditis that is caused by an infection with a bacterial agent." "" + "familial polycythemia" "Polycythemia that occurs in groups of related individuals." "" + "polycythemia" "Abnormally high mass or concentration of red blood cells in the blood, either due to an increase in erythropoiesis or a decrease in plasma volume." "" + "mesenteric lymphadenitis" "Inflammation of the mesenteric lymph nodes." "" + "lymphadenitis" "Acute or chronic inflammation of one or more lymph nodes. It is usually caused by an infectious process." "" + "methemoglobinemia" "An inherited or acquired condition characterized by abnormally increased levels of methemoglobin in the blood." "" + "hemoglobinopathy" "" + "Queensland tick typhus" "A spotted fever that has material basis in Rickettsia australis, which is transmitted by ticks (Ixodes holocyclus). The infection has symptom fever, has symptom headache, has symptom myalgia, has symptom maculopapular rash, and has symptom lymphadenopathy." "" + "premature menopause" "Cessation of menstruation before the age of 40. Symptoms include hot flashes, night sweats, mood swings, and decreased sex drive." "" + "ovarian dysfunction" "The inability of the ovaries to function." "" + "primary ovarian failure" "Absent or premature cessation of ovarian function due to a pathologic process originating within the ovaries." "" + "chronic frontal sinusitis" "Inflammation of the frontal sinus that typically lasts beyond eight weeks. It is caused by infections, allergies, and the presence of sinus polyps or a deviated septum. Signs and symptoms include headache, nasal discharge, swelling in the face, dizziness, and breathing difficulties." "" + "frontal sinusitis" "An acute or chronic inflammatory process affecting the mucous membrane of the frontal sinus." "" + "chronic rhinosinusitis" "Chronic form of sinusitis." "" + "sinusitis" "An acute or chronic inflammatory process affecting the mucous membranes of any sinus cavity." "" + "chronic maxillary sinusitis" "Inflammation of the maxillary sinus that typically lasts beyond eight weeks. It is caused by infections, allergies, and the presence of sinus polyps or a deviated septum. Signs and symptoms include headache, nasal discharge, swelling in the face, dizziness, and breathing difficulties." "" + "maxillary sinusitis" "An acute or chronic inflammatory process affecting the mucous membrane of the maxillary sinus." "" + "chronic sphenoidal sinusitis" "Inflammation of the sphenoid sinus that typically lasts beyond eight weeks. It is caused by infections, allergies, and the presence of sinus polyps or a deviated septum. Signs and symptoms include headache, nasal discharge, swelling in the face, dizziness, and breathing difficulties." "" + "sphenoid sinusitis" "An acute or chronic inflammatory process affecting the mucous membrane of the sphenoid sinus." "" + "obsolete filariasis" "" "true" + "acute gonococcal epididymo-orchitis" "Acute form of gonococcal epididymo-orchitis." "" + "gonococcal epididymo-orchitis" "" + "gastric ulcer" "An ulcerated lesion in the mucosal surface of the stomach. It may progress to involve the deeper layers of the gastric wall." "" + "peptic ulcer disease" "A mucosal erosion that occurs in the esophagus, stomach or duodenum. Symptoms can include abdominal pain, nausea and vomiting, and bleeding." "" + "stomach disease" "A disease involving the stomach." "" + "tibialis tendinitis" "A tendinitis that involves the tibialis." "" + "nasal cavity cancer" "A malignant neoplasm involving the nasal cavity" "" + "nasal cavity neoplasm" "A benign or malignant neoplasm that affects the nasal cavity. Representative examples of benign neoplasms include Schneiderian papilloma and salivary gland-type adenoma. Representative examples of malignant neoplasms include carcinoma and lymphoma." "" + "head and neck cancer" "A primary or metastatic malignant neoplasm affecting the head and neck. Representative examples include oral cavity squamous cell carcinoma, laryngeal squamous cell carcinoma, and salivary gland carcinoma." "" + "nasal cavity olfactory neuroblastoma" "An olfactory neuroblastoma arising in the nasal cavity." "" + "olfactory neuroblastoma" "An olfactory neuroblastoma arising in the paranasal sinus." "" + "nasal cavity lymphoma" "A primary lymphoma that affects the nasal cavity and the bulk of the tumor is in this anatomic area." "" + "obsolete duodenum adenocarcinoma" "" "true" + "sexual sadism disorder" "A disorder characterized by recurrent sexual urges, fantasies, or behaviors involving acts (real, not simulated) in which the psychological or physical suffering of a victim is sexually exciting to the individual." "" + "malignant essential hypertension" "Essential hypertension with rapid progression to severe high blood pressure, papilledema, and renal failure." "" + "essential hypertension" "Hypertension that presents without an identifiable cause." "" + "hypertensive disorder" "Persistently high systemic arterial blood pressure. Based on multiple readings (blood pressure determination), hypertension is currently defined as when systolic pressure is consistently greater than 140 mm Hg or when diastolic pressure is consistently 90 mm Hg or more." "" + "voyeurism" "A disorder characterized by recurrent sexual urges, fantasies, or behaviors involving observing an unsuspecting person who is naked, disrobing, or engaging in sexual activity." "" + "chylocele of tunica vaginalis" "" + "testicular disease" "A non-neoplastic or neoplastic disorder affecting the testis. Representative examples include torsion, infarction, germ cell tumor, sex cord-stromal tumor, lymphoma, and leukemia." "" + "Murray valley encephalitis" "An disease caused by infection with Murray Valley encephalitis virus." "" + "angiodysplasia of intestine" "A angiodysplasia that involves the intestine." "" + "angiodysplasia" "Acquired degenerative dilation or expansion (ectasia) of normal blood vessels, often associated with aging. They are isolated, tortuous, thin-walled vessels and sources of bleeding. They occur most often in mucosal capillaries of the gastrointestinal tract leading to gastrointestinal hemorrhage and anemia." "" + "sexual masochism disorder" "A disorder characterized by recurrent sexual urges, fantasies, or behaviors involving the act (real, not simulated) of being humiliated, beaten, bound, or otherwise made to suffer." "" + "obsolete Edwards syndrome" "" "true" + "middle ear cholesterol granuloma" "As accumulation of granulation tissue in the middle ear that results from the degeneration of blood and a chronic inflammatory response." "" + "otitis media" "Inflammation of the anatomical structures of the middle ear, which is most often caused by an infectious process. Symptoms include erythema and edema of the tympanic membrane, pain, and possibly fever." "" + "salivary gland disease" "A disease involving the saliva-secreting gland." "" + "paralytic strabismus" "" + "strabismus" "Strabismus is the intermittent or constant misalignment of an eye so that its line of vision is not pointed at the same object as the other eye. Strabismus is caused by an imbalance in the extraocular muscles which control the positioning of the eyes. Strabismus is normal in newborns but should resolve by the time the baby is 6 months old. In older children with strabismus, the brain may learn to ignore the input from one eye, and this may lead to amblyopia, a potentially permanent decrease in vision in that eye if not corrected." "" + "partial third-nerve palsy" "" + "oculomotor nerve paralysis" "Paralysis of the oculomotor nerve." "" + "total third-nerve palsy" "" + "fourth cranial nerve palsy" "A cranial nerve palsy that involves the trochlear nerve." "" + "cranial nerve palsy" "Injury to any of the cranial nerves or their nuclei in the brain resulting in muscle weakness." "" + "trochlear nerve disease" "A disease involving the trochlear nerve." "" + "meningocele" "A congenital abnormality in which the meninges protrude through a defect in the spinal column or the cranium." "" + "iliac vein thrombophlebitis" "A thrombophlebitis that involves the iliac vein." "" + "thrombophlebitis" "Inflammation of the veins associated with the presence of a thrombus." "" + "hydrocephalus" "A disorder characterized by an abnormal increase of cerebrospinal fluid in the ventricles of the brain." "" + "benign essential hypertension" "A condition of mild to moderate high blood pressure that has no identifiable cause." "" + "amnestic disorder" "Systematic and extensive loss of memory caused by organic or psychological factors. The loss may be temporary or permanent, and may involve old or recent memories." "" + "cognitive disorder" "A disease affects cognitive processes." "" + "gender dysphoria" "A marked difference between the individual's expressed/experienced gender and the gender others would assign him or her, and it must continue for at least six months. (from DSM-5)" "" + "gender identity disorder" "A disorder characterized by a strong and persistent cross-gender identification (such as stating a desire to be the other sex or frequently passing as the other sex) coupled with persistent discomfort with his or her sex (manifested in adults, for example, as a preoccupation with altering primary and secondary sex characteristics through hormonal manipulation or surgery)." "" + "Siberian tick typhus" "A spotted fever that has material basis in Rickettsia sibirica, which is transmitted by ticks (Dermacentor nuttalli, Dermacentor marginatus and Haemaphysalis concinna). The infection has symptom fever, has symptom eschar, has symptom regional adenopathy, and has symptom maculopapular rash." "" + "gastrojejunal ulcer" "" + "borderline personality disorder" "A disorder characterized by an enduring pattern of unstable self-image and mood together with volatile interpersonal relationships, self-damaging impulsivity, recurrent suicidal threats or gestures and/or self-mutilating behavior." "" + "dependent personality disorder" "A disorder characterized by an enduring pattern of an extreme need to be taken care of together with fear of separation that lead the individual to urgently seek out and submit to another person and allow that person to make decisions that impact all areas of the individual's life." "" + "obsessive-compulsive personality disorder" "A disorder characterized by an enduring pattern of inflexibility, extreme orderliness, and perfectionism which interfere with efficiency and which may manifest in many different contexts, including work and leisure activities, financial matters, and issues of morality or ethics." "" + "multiple personality disorder" "A disorder characterized by the presence of two or more identities with distinct patterns of perception and personality which recurrently take control of the person's behavior; this is accompanied by a retrospective gap in memory of important personal information that far exceeds ordinary forgetfulness. The changes in identity are not due to substance use or to a general medical condition." "" + "dissociative disorder" "A category of psychiatric disorders which are characterized by a disruption in the usually integrated functions of consciousness, memory, identity, and/or perception of the environment." "" + "schizoid personality disorder" "A disorder characterized by an enduring pattern of extreme social detachment and lack of involvement in interpersonal activities, coupled with emotional coldness." "" + "impulse control disorder" "A category of behaviors that can be loosely defined as the failure to resist an impulsive act or behavior that may be harmful to self or others." "" + "paranoid personality disorder" "A disorder characterized by an enduring pattern of behavior based on the pervasive belief that the motives of others are malevolent and that they should not be trusted." "" + "antisocial personality disorder" "A disorder characterized by a pervasive pattern of disregard for and violation of the rights of others that is manifested in childhood or early adolescence. (adapted from DSM-IV)" "" + "tongue disease" "A disease involving the tongue." "" + "spastic diplegia" "A type of cerebral palsy characterized by spasticity and hypertonia of the lower extremities bilaterally, particularly the legs, hips, and pelvis; this is the most common (70%) form of cerebral palsy." "" + "spastic hemiplegia" "A type of spastic cerebral palsy characterized by increased muscle tone of the arm and leg on the same side of the body." "" + "hemiplegia" "Severe or complete loss of motor function on one side of the body. This condition is usually caused by brain diseases that are localized to the cerebral hemisphere opposite to the side of weakness. Less frequently, brain stem lesions; cervical spinal cord diseases; peripheral nervous system diseases; and other conditions may manifest as hemiplegia. The term hemiparesis (see paresis) refers to mild to moderate weakness involving one side of the body." "" + "spastic monoplegia" "A spastic cerebral palsy that affects only one limb." "" + "palsy" "A general term most often used to describe severe or complete loss of muscle strength due to motor system disease from the level of the cerebral cortex to the muscle fiber. This term may also occasionally refer to a loss of sensory function. (From Adams et al., Principles of Neurology, 6th ed, p45)" "" + "acute salpingo-oophoritis" "Acute form of salpingo-oophoritis." "" + "salpingo-oophoritis" "" + "acute salpingitis" "Acute inflammation of the fallopian tube. It is most often caused by Neisseria gonorrhoeae and Chlamydia trachomatis infections. The infections usually originate in the vagina and ascend to the fallopian tube. Symptoms include abdominal, pelvic, and lower back pain, pain during ovulation and sexual intercourse, fever, nausea, and vomiting. Complications include infertility and ectopic pregnancy." "" + "oophoritis" "Inflammation of the ovary, generally caused by an ascending infection of organisms from the endocervix." "" + "conjunctival vascular disease" "A disorder of the vasculature of the cornea." "" + "ocular vascular disease" "A disorder that is caused by pathologic changes in the ocular vasculature." "" + "immature cataract" "A cataract disease in which the cataract contains some transparent protein" "" + "senile cataract" "A cataract with no obvious cause occurring in persons over 50 years old." "" + "lens disease" "A disease involving the lens of camera-type eye." "" + "anorectal stricture" "" + "pseudopterygium" "" + "pinguecula" "A yellowish thickened lesion on the conjunctiva near the cornea representing a benign degenerative change in the conjunctiva caused by the leakage and deposition of certain blood proteins through the permeable capillaries near the limbus." "" + "bullous keratopathy" "Keratopathy that is characterized by the presence of epithelial bullae." "" + "keratopathy" "Any disorder of the cornea." "" + "corneal edema" "Hazy, swollen cornea." "" + "secondary corneal edema" "" + "idiopathic corneal edema" "" + "contact lens corneal edema" "" + "chronic rapidly progressive glomerulonephritis" "Chronic form of rapidly progressive glomerulonephritis." "" + "rapidly progressive glomerulonephritis" "Inflammation of the glomeruli that is characterized by a rapid loss in renal function with glomerular crescent formation observed on biopsy; it is often seen in patients with concomitant autoimmune disease, like Goodpasture's syndrome or systemic lupus erythematosus." "" + "dissociative amnesia" "A disorder characterized by a retrospective gap in memory of important personal information, usually of a traumatic or stressful nature; the memory loss far exceeds ordinary forgetfulness and is not the result of substance use or the consequence of a medical condition." "" + "depersonalization disorder" "A disorder characterized by persistent or recurrent episodes of feeling detached from one's self (either one's body or one's mental processes), although the sufferer remains aware that this is only a feeling and does not represent reality." "" + "urinary bladder cancer" "A primary or metastatic malignant neoplasm involving the bladder." "" + "esophagus lymphoma" "An extranodal lymphoma that arises from the esophagus with the bulk of the mass located in the esophagus. Dysphagia may be the presenting symptom. The vast majority of cases are diffuse large B-cell lymphomas and B-cell lymphomas of the mucosa-associated lymphoid tissue." "" + "esophageal cancer" "A primary or metastatic malignant neoplasm involving the esophagus." "" + "obsolete esophageal carcinoma" "" "true" + "Brucella suis brucellosis" "An disease or disorder caused by infection with Brucella suis." "" + "brucellosis" "Brucellosis is a bacterial infection that spreads from animals to people via unpasteurized dairy products or by exposure to contaminated animal products or infected animals. Animals that are most commonly infected include sheep, cattle, goats, pigs, and dogs. Brucellosis can cause of range of signs and symptoms, some of which may persist or recur. Initial symptoms may include fever, sweats, malaise, anorexia, headache, fatigue, and/or pain in the muscles, joints, and/or back. Symptoms that may persist or recur include fevers, arthritis, swelling of the testicle and scrotum, swelling of the heart (endocarditis), neurologic symptoms (in up to 5% of cases), chronic fatigue, depression, and/or swelling of the liver or spleen. People who are in jobs or settings that increase exposure to the bacteria are at increased risk for infection. Antibiotics are used to treat brucellosis. Recovery may take a few weeks to several months, and relapses are common. Death from brucellosis is rare, occurring in no more than 2% of cases." "" + "hirudiniasis" "An disease or disorder caused by infection with Hirudinea." "" + "parasitic ectoparasitic infectious disease" "Infestations by parasites which live on, or burrow into, the surface of their host's epidermis. Most ectoparasites are arthropods." "" + "esophageal melanoma" "A melanoma affecting the esophageal wall. Melanoma in the esophagus is more commonly metastatic than primary. Primary melanomas of the esophagus are polypoid and clinically aggressive. (WHO, 2000)" "" + "esophageal neuroendocrine tumor" "A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the esophagus." "" + "digestive system melanoma" "A melanoma that arises from any part of the digestive system." "" + "obsolete chorioretinal scar" "" "true" + "retinal disease" "Any disease or disorder of the retina." "" + "obsolete rickettsialpox" "" "true" + "Rickettsiaceae infectious disease" "Infections with bacteria of the family rickettsiaceae." "" + "psychologic dyspareunia" "" + "neurological pain disorder" "A nervous system disorder that has pain as a major feature." "" + "qualitative platelet defect" "" + "acquired thrombocytopenia" "An instance of thrombocytopenia that is acquired during the lifetime of the individual." "" + "thrombocytopenia" "A laboratory test result indicating that there is an abnormally small number of platelets in the circulating blood." "" + "dislocation of ear ossicle" "Ossicular chain dislocation is a separation of the middle ear bones. It results in a hearing loss due to sound not being transmitted properly (conductive hearing loss). Ossicular chain dislocation is also called ossicular chain discontinuity." "" + "" "true" + "benign prostatic hyperplasia" "A non-cancerous nodular enlargement of the prostate gland. It is characterized by the presence of epithelial cell nodules, and stromal nodules containing fibrous and smooth muscle elements. It is the most common urologic disorder in men, causing blockage of urine flow." "" + "prostatic cyst" "" + "prostate disease" "A disease involving the prostate gland." "" + "prolapse of lacrimal gland" "" + "disorder of lacrimal gland" "A disease that involves the lacrimal gland." "" + "esophagus sarcoma" "A malignant soft tissue neoplasm that arises from the esophagus. Representative examples include Kaposi sarcoma, leiomyosarcoma, rhabdomyosarcoma, and synovial sarcoma." "" + "sarcoma" "A usually aggressive malignant neoplasm of the soft tissue or bone. It arises from muscle, fat, fibrous tissue, bone, cartilage, and blood vessels. Sarcomas occur in both children and adults. The prognosis depends largely on the degree of differentiation (grade) of the neoplasm. Representative subtypes are liposarcoma, leiomyosarcoma, osteosarcoma, and chondrosarcoma." "" + "soft tissue sarcoma" "A malignant neoplasm arising from muscle tissue, adipose tissue, blood vessels, fibrous tissue, or other supportive tissues excluding the bones." "" + "hypersecretion glaucoma" "" + "aqueous misdirection" "" + "neonatal respiratory failure" "" + "acute respiratory failure" "Life-threatening respiratory failure that develops rapidly. Causes include injury, sepsis, drug overdose, and pancreatitis. It manifests with dyspnea and cyanosis and may lead to cardiovascular shock." "" + "respiratory failure" "The significant impairment of gas exchange within the lungs resulting in hypoxia, hypercarbia, or both, to the extent that organ tissue perfusion is severely compromised. Causes include chronic obstructive pulmonary disease, asthma, emphysema, acute respiratory distress syndrome, pneumonia, pulmonary edema, pneumothorax, and congestive heart failure. Treatment requires intubation and mechanical ventilation until the time the lungs recover sufficient function." "" + "common wart" "A wart caused by human papillomavirus. It can appear anywhere on the skin." "" + "benign epithelial skin neoplasm" "A form of epithelial skin neoplasm without malignant characteristics." "" + "enophthalmos" "Abnormal recession of the eyeball within the eye socket." "" + "disease of orbital part of eye adnexa" "Diseases of the bony orbit and contents except the eyeball." "" + "total internal ophthalmoplegia" "" + "pupil disease" "A disease involving the pupil." "" + "non-suppurative otitis media" "A otitis media which involves transudation of fluid in the middle ear without pus formation." "" + "serous glue ear" "Chronic form of serous otitis media." "" + "serous otitis media" "" + "chronic non-suppurative otitis media" "Chronic form of non-suppurative otitis media." "" + "acute conjunctivitis" "Acute inflammation of the conjunctiva." "" + "conjunctivitis" "Inflammation of the conjunctiva of the eye." "" + "allescheriosis" "A primary systemic mycosis that results in systemic fungal infection, has material basis in Pseudallescheria boydii, which results in formation of abscesses." "" + "pulp degeneration" "Deterioration of the normal pulp tissue." "" + "dental pulp disease" "A disease involving the dental pulp." "" + "pseudomembranous conjunctivitis" "Conjunctivitis that is characterized by formation of a pseudomembrane." "" + "bacterial conjunctivitis" "Inflammation of the conjunctiva caused by a variety of bacterial agents." "" + "acute laryngopharyngitis" "An upper respiratory tract disease which involves inflammation of both larynx and pharynx." "" + "serous conjunctivitis except viral" "" + "hypoparathyroidism" "Hypoparathyroidism is is an endocrine disorder in which the parathyroid glands in the neck do not produce enough parathyroid hormone (PTH). Common signs and symptoms includeabdominal pain, brittle nails, cataracts, dry hair and skin,muscle cramps,tetany, pain in the face, legs, and feet, seizures, tingling sensation,and weakened tooth enamel (in children). It may be caused byinjury to the parathyroid glands (e.g., during surgery). Other causes, include low blood magnesium levels, a side effect of radioactive iodine treatment for hyperthyroidism, metabolic alkalosis, DiGeorge syndrome, and type I polyglandular autoimmune syndrome. The goal of treatment is to restore the calcium and mineral balance in the body." "" + "parathyroid gland disease" "A disease involving the parathyroid gland." "" + "esophageal varices" "Abnormally dilated veins of the esophagus." "" + "varicose disease" "A vascular disease characterized by the presence of enlarged and tortuous veins." "" + "congenital T-cell immunodeficiency" "A broad classification of inherited disorders presenting at birth that affect the cell-mediated aspect of the immune response. Circulating numbers of T lymphocytes are decreased or ineffective." "" + "T-cell immunodeficiency" "A broad classification of disorders that affect the cell-mediated aspect of the immune response. Circulating numbers of T lymphocytes are decreased or ineffective." "" + "primary immunodeficiency disease" "A disorder in which the immune system is unable to mount an adequate immune response." "" + "Angelucci syndrome" "Atopic conjunctivitis that is of relatively short duration and that has a rapid onset." "" + "atopic conjunctivitis" "Conjunctivitis due to hypersensitivity to various allergens." "" + "opioid abuse" "A substance abuse that involves the recurring use of opioid drugs despite negative consequences." "" + "substance abuse" "The use of a drug for a reason other than which it was intended or in a manner or in quantities other than directed." "" + "acute contagious conjunctivitis" "Acute inflammation of the conjunctiva characterized by pink or red color in the eyes." "" + "chronic tympanitis" "Chronic form of tympanitis." "" + "tympanitis" "An inflammatory disease involving a pathogenic inflammatory response in the tympanic membrane." "" + "chronic otitis media" "Chronic form of otitis media (disease)." "" + "conjunctival folliculosis" "" + "small intestine diverticulitis" "A diverticulitis that involves the small intestine." "" + "diverticulitis" "An infection that develops in the diverticula of the intestinal tract. Signs and symptoms include abdominal pain, fever, and leukocytosis." "" + "small intestine disease" "A disease that involves the small intestine." "" + "acute orbital inflammation" "" + "orbital periostitis" "" + "periostitis" "Inflammation of the periosteum. The condition is generally chronic, and is marked by tenderness and swelling of the bone and an aching pain. Acute periostitis is due to infection, is characterized by diffuse suppuration, severe pain, and constitutional symptoms, and usually results in necrosis. (Dorland, 27th ed)" "" + "orbital osteomyelitis" "" + "orbital tenonitis" "" + "adhesive otitis media" "An auditory system disease that is characterized by a thin retracted ear drum becomes sucked into the middle-ear space and stuck (i.e., adherent) to the ossicles and other bones of the middle ear." "" + "appendix cancer" "A malignant neoplasm involving the vermiform appendix" "" + "appendiceal neoplasm" "A benign or malignant neoplasm involving the appendix." "" + "cecum cancer" "A malignant neoplasm involving the caecum" "" + "disorder of appendix" "A disease or disorder that involves the vermiform appendix." "" + "appendix lymphoma" "A lymphoma arising from the appendix. The majority of lymphomas affecting the appendix represent disease extension from the intestinal wall; primary lymphomas of the appendix are rare." "" + "cecum lymphoma" "An extranodal lymphoma that arises from the cecum. The majority are B-cell non-Hodgkin lymphomas." "" + "polycythemia neonatorum" "A condition in which the red blood cell level is greater than established reference ranges in a newborn." "" + "anemia of prematurity" "A blood disorder characterized by low hemoglobin levels in premature neonates that usually spontaneously resolves within 3-6 months post birth. A combination of factors including the transition from the liver to the bone marrow for erythropoiesis in a neonate, blood loss experienced during delivery, the shortened life span of fetal blood cells, and an acclimation to a relatively hyperoxic environment outside the womb can predispose a neonate to this condition." "" + "neonatal anemia" "The mildest form of erythroblastosis fetalis in which anemia is the chief manifestation." "" + "transient neonatal neutropenia" "" + "neutropenia" "A decrease in the number of neutrophils found in the blood." "" + "disseminated intravascular coagulation in newborn" "A clotting condition characterized as a disruption in the homeostatic balance of the coagulation and fibrinolytic systems presenting as a pathological activation of coagulation mechanisms leading to the formation of small clots inside the blood vessels throughout the body of the newborn." "" + "thrombophilia" "A condition characterized by an abnormally high level of thrombi. Causes include thrombotic thrombocytopenic purpura, disseminated intravascular coagulation, bone marrow disorders, and antiphospholipid antibody syndrome." "" + "vitamin K deficiency hemorrhagic disease" "Deficiency of vitamin K. It may lead to bleeding, manifested with ecchymoses, petechiae, and hematomas. In infants it may cause hemorrhagic disease of newborn with intracranial and retroperitoneal bleeding." "" + "social phobia" "An anxiety disorder characterized by an intense, irrational fear of one or more social or performance situations in which the individual believes that he or she will be scrutinized by others. Exposure to social situations immediately provokes an anxiety response. In adults, the social phobia is recognized as excessive or unreasonable." "" + "phobic disorder" "An anxiety disorder characterized by an intense, irrational fear of an object, activity, or situation. The individual seeks to avoid the object, activity, or situation. In adults, the individual recognizes that the fear is excessive or unreasonable." "" + "obsolete rabies" "" "true" + "trachoma" "A chronic infection of the conjunctiva and cornea caused by chlamydia trachomatis." "" + "chlamydia trachomatis infectious disease" "An infection that is caused by Chlamydia trachomatis." "" + "keratomalacia" "An eye disorder that results from vitamin A deficiency, with basis in disruption of maintenance of the specialized epithelial surfaces, leading to atrophic changes in the normal mucosal surface, with loss of goblet cells, and replacement of the normal epithelium by an inappropriate keratinized stratified squamous epithelium. In addition, the substantia propria of the cornea breaks down and liquefies, resulting in keratomalacia." "" + "corneal degeneration" "" + "chronic apical periodontitis" "Chronic form of periapical periodontitis." "" + "periapical periodontitis" "Inflammation of the periapical tissue. It includes general, unspecified, or acute nonsuppurative inflammation. Chronic nonsuppurative inflammation is periapical granuloma. Suppurative inflammation is periapical abscess." "" + "chronic periodontitis" "A chronic inflammatory process that affects the tissues that surround and support the teeth." "" + "Plummer disease" "Nodular enlargement of the thyroid gland associated with hyperthyroidism." "" + "obsolete solar retinopathy" "" "true" + "obsolete peripheral scars of retina" "" "true" + "ventilation pneumonitis" "An extrinsic allergic alveolitis caused by inhalation of antigens from thermophilic actinomycetes species growing in air conditioners and humidifiers. Fungi like Aureobasidium sp and Candida albicans that survive in the contaminated water in humidifiers and air conditioners are also known to cause the disease." "" + "extrinsic allergic alveolitis" "An inflammatory interstitial lung disease caused by hypersensitivity reaction to inhalation or ingestion of antigens. The antigens are usually related to the patient's occupation. It can present as an acute illness with flu-like symptoms, subacute with repeated episodes of pneumonia, or chronic with dyspnea and productive cough. The majority of patients recover following the cessation of the exposure to the antigen that causes the disease. Chronic exposure may eventually progress to interstitial lung fibrosis." "" + "arteriovenous hemangioma/malformation" "A benign vascular lesion characterized by the presence of a complex network of communicating arterial and venous vascular structures." "" + "retinal microaneurysm" "" + "retinal vascular disease" "Retinal damage resulting from diminished blood flow/oxygenation due to abnormalities of the retinal vessels. Causes include hypertension, diabetes, thrombosis, embolism, and hemorrhage." "" + "vertebral artery occlusion" "" + "occlusion precerebral artery" "" + "pituitary gland infarction" "Ischemic necrosis of the pituitary gland." "" + "necrosis of pituitary" "Ischemic or hemorrhagic necrosis of the pituitary gland." "" + "cercarial dermatitis" "An unusual presentation of schistosomiasis characterized by a pruritic papular rash in the perigenital or periumbilical area due to an allergic reaction to schistosoma eggs deposited in the skin." "" + "schistosomiasis" "An infectious disease caused by parasitic trematodes of the genus Schistosoma that colonize human blood vessels and release eggs that can cause granulomatous reactions leading to acute (swimmer's itch or acute schistosomiasis syndrome) or chronic disease. Depending on where the eggs lodge, manifestations of chronic schistosomiasis can include diarrhea, abdominal pain, loss of appetite, anemia (intestines), hepatosplenism, periportal fibrosis with portal hypertension (liver), urogenital inflammation and scarring, hematuria and dysuria (genitourinary system). Other patients may be asymptomatic." "" + "skin infection" "An inflammatory process affecting the skin, caused by bacteria, viruses, parasites, or fungi. Examples of bacterial infection include carbuncles, furuncles, impetigo, erysipelas, and abscesses. Examples of viral infection include shingles, warts, molluscum contagiosum, and pityriasis rosea. Examples of parasitic infection include scabies and lice. Examples of fungal infection include athlete's foot, yeast infection, and ringworm." "" + "parasitic skin disease" "Skin diseases caused by ARTHROPODS; HELMINTHS; or other parasites." "" + "Mobitz type II atrioventricular block" "A disorder characterized by an electrocardiographic finding of intermittent failure of atrial electrical impulse conduction to the ventricles, characterized by a relatively constant PR interval prior to the block of an atrial impulse. (CDISC)" "" + "African histoplasmosis" "An disease or disorder caused by infection with Histoplasma capsulatum var. duboisii." "" + "Histoplasma capsulatum infectious disease" "An disease or disorder caused by infection with Histoplasma capsulatum." "" + "histoplasmosis retinitis" "An retinitis caused by infection with Histoplasma capsulatum." "" + "fungal infection of eye" "Infection by a variety of fungi, usually through four possible mechanisms: superficial infection producing conjunctivitis, keratitis, or lacrimal obstruction; extension of infection from neighboring structures - skin, paranasal sinuses, nasopharynx; direct introduction during surgery or accidental penetrating trauma; or via the blood or lymphatic routes in patients with underlying mycoses." "" + "obsolete Kyasanur forest disease" "" "true" + "schizophreniform disorder" "A disorder that differs from schizophrenia specifically in total duration (schizophreniform disorder lasts at least 1 month but less than 6 months whereas schizophrenia lasts at least 6 months); schizophreniform disorder also typically causes less impairment in the individual's social and occupational functioning." "" + "psychotic disorder" "An abnormal condition of the mind that involves a loss of contact with reality. People experiencing psychosis may exhibit personality changes and thought disorder. Depending on its severity, this may be accompanied by unusual or bizarre behavior, as well as difficulty with social interaction and impairment in carrying out daily life activities." "" + "erysipelas" "An infection of the upper layers of the skin caused by species of streptococcus. Erysipelas results in a fiery red rash with raised edges that can easily be distinguished from the skin around it. The affected skin may be warm to the touch." "" + "streptococcal infection" "Any of the several infectious disorders caused by members of streptococcus, a genus of gram positive bacteria belonging to the family Streptococcaceae. Streptococcal infections are classified into Groups A, B, C, D and G." "" + "dermatitis" "An inflammatory process affecting the skin. Signs include red rash, itching, and blister formation. Representative examples are contact dermatitis, atopic dermatitis, and seborrheic dermatitis." "" + "obsolete Lemierre syndrome" "" "true" + "gingival recession" "A loss of gum tissue resulting in an exposure of the roots of the teeth." "" + "gingival disease" "A disease involving the gingiva." "" + "scleral disease" "A disorder affecting the sclera. Examples include inflammatory processes (e.g., scleritis and episcleritis), and degenerative processes. Primary tumors of the sclera are extremely rare." "" + "stone in bladder diverticulum" "" + "bladder calculus" "A concretion in the urinary bladder." "" + "bladder diverticulum" "" + "lens subluxation" "A partial dislocation of the lens of the eye." "" + "functional diarrhea" "" + "megacolon" "An abnormal dilation of the colon not due to obstruction." "" + "anal spasm" "" + "spinal meningioma" "Spinal meningioma isa rare type of spinal cord cancer. The spinal cord is part of the central nervous system. This tumor often affects middle-aged women. Tumors of the spinal cord can be either primary or arise from other primary tumors (metastatic), and are typically slow growing. The initial signs and symptoms include headacheand recent onset of seizures. Other features are motor deficits, sensory deficits, pain, and sphincter dysfunction. The thoracic spine (middle back) is the most common site, followed by the cervical spine (neck). These tumors are rarely seen in the lumbar region (lower back). T he only proven risk factor in the development of meningioma is exposure to ionizing radiation. Also, patients with neurofibromatosis type 2 are at increased risk of developing meningioma. Surgery is the treatment of choice and complete tumor removal is reached in the vast majority of patients. The prognosis after surgical resection is excellent." "" + "intraspinal meningioma" "A meningioma that arises from the spinal meninges." "" + "spinal cord neoplasm" "A neoplasm (disease) that involves the spinal cord." "" + "expressive language disorder" "A disorder characterized by an impairment in the development of an individual's expressive language which is in contrast to his/her nonverbal intellect and receptive language development. The impairment may be acquired (i.e., due to a brain lesion or head trauma) or developmental (i.e., no known neurological insult)." "" + "cerebral arteritis" "An inflammatory disease involving a pathogenic inflammatory response in the cerebral artery." "" + "central nervous system vasculitis" "Vasculitis affecting the blood vessels of the brain and/or spinal cord." "" + "arteritis" "An inflammatory process affecting an artery." "" + "obsolete adult respiratory distress syndrome" "A syndrome characterized by progressive life-threatening RESPIRATORY INSUFFICIENCY in the absence of known LUNG DISEASES, usually following a systemic insult such as surgery or major TRAUMA." "" "true" + "spinal cord cancer" "A primary or metastatic malignant neoplasm affecting the spinal cord. Representative examples include lymphoma, melanoma, and sarcoma." "" + "choroiditis" "An inflammatory process that affects the choroid." "" + "optic choroid disease" "A disease involving the optic choroid." "" + "posterior uveitis" "Inflammation of the choroid as well as the retina and vitreous body. Some form of visual disturbance is usually present. The most important characteristics of posterior uveitis are vitreous opacities, choroiditis, and chorioretinitis." "" + "vasculitis" "Vasculitis represents a clinically heterogenous group of diseases of multifactorial etiology characterized by inflammation of either large-sized vessels (large-vessel vasculitis, e.g. Giant-cell arteritis and Takayasu arteritis), medium-sized vessels (medium-vessel vasculitis e.g. polyarteritis nodosa and Kawasaki disease), or small-sized vessels (small-vessel vasculitis, e.g. granulomatosis with polyangiitis, microscopic polyangiitis, immunoglobulin A vasculitis, and cutaneous leukocytoclastic angiitis). Vasculitis occurs at any age, may be acute or chronic, and manifests with general symptoms such as fever, weight loss and fatigue, as well as more specific clinical signs depending on the type of vessels and organs affected. The degree of severity is variable, ranging from life or sight threatening disease (e.g. BehC'et disease) to relatively minor skin disease." "" + "alternating exotropia" "A form of ocular misalignment where the visual axes diverge inappropriately. For example, medial rectus muscle weakness may produce this condition as the affected eye will deviate laterally upon attempted forward gaze. An exotropia occurs due to the relatively unopposed force exerted on the eye by the lateral rectus muscle, which pulls the eye in an outward direction." "" + "exotropia" "A form of strabismus in which the eyes are deviated laterally." "" + "fallopian tube endometriosis" "Endometriosis that affects the fallopian tube. Symptoms include infertility, pelvic pain, painful menstruation, and painful intercourse." "" + "endometriosis" "The growth of functional endometrial tissue in anatomic sites outside the uterine body. It most often occurs in the pelvic organs." "" + "fallopian tube disease" "A disease involving the fallopian tube." "" + "endosalpingiosis" "A benign pathologic process characterized by the transformation of the mesothelium into fallopian tube epithelium. It occurs in the peritoneum and may affect the serosa surface of the uterus and the adnexa. It may be asymptomatic or present as pelvic pain." "" + "endometriosis of intestine" "Endometriosis that affects the intesines." "" + "endometriosis of pelvic peritoneum" "" + "disease of peritoneum" "A non-neoplastic or neoplastic disorder that affects the peritoneal cavity. Representative examples of non-neoplastic disorders include peritonitis and panniculitis. Representative examples of neoplastic disorders include adenomatoid tumor, primary peritoneal carcinoma, metastatic carcinoma to the peritoneum, and malignant mesothelioma." "" + "endometriosis in cutaneous scar" "" + "endometriosis of rectovaginal septum and vagina" "Endometriosis that affects the vagina. It is characterized by the presence of endometrial stroma with or without endometrial-type glands in the vagina." "" + "obsolete endometriosis of ovary" "" "true" + "allergic cutaneous vasculitis" "Inflammation of the small vessels of the skin that is mediated by the immune system." "" + "atopic eczema" "A chronic inflammatory genetically determined disease of the skin marked by increased ability to form reagin (IgE), with increased susceptibility to allergic rhinitis and asthma, and hereditary disposition to a lowered threshold for pruritus. It is manifested by lichenification, excoriation, and crusting, mainly on the flexural surfaces of the elbow and knee. In infants it is known as infantile eczema." "" + "hypersensitivity vasculitis" "A small vessel vasculitis affecting the skin and/or internal organs. It is characterized by the presence of neutrophils and fibrinoid necrosis in small arteries and venules. It may be idiopathic or the result of drug treatment, infections, food intake, collagen vascular disorders, inflammatory bowel disease, or cancer." "" + "cutaneous vasculitis" "Inflammation of the blood vessel wall characterized by palpable purpura." "" + "brain compression" "" + "autonomic nervous system disease" "A disease involving the autonomic nervous system." "" + "autonomic neuropathy" "An inherited or acquired peripheral neuropathy affecting the autonomic nervous system. It results in disruption of the involuntary body functions. Inherited causes include Fabry disease and porphyrias. Acquired causes include diabetes, uremia, hepatic disorders, vitamin deficiencies, toxins, and drug toxicities." "" + "subglottis cancer" "A malignant neoplasm that affects the subglottic area of the larynx. The vast majority of cases are squamous cell carcinomas." "" + "larynx cancer" "A primary or metastatic malignant neoplasm involving the larynx. The majority are carcinomas." "" + "Horner syndrome" "Horner's syndrome is a rare condition characterized by miosis (constriction of thepupil), ptosis (drooping of the upper eyelid), and anhidrosis (absence of sweating of the face). It iscaused by damage to the sympathetic nerves of the face. The underlying causes of Horner's syndrome vary greatly and may include a tumor, stroke, or other damage to a part of the brain called the brain stem ; injury to the carotid artery ;and trauma to the brachial plexus. In rare cases, Horner's syndrome is congenital (present from birth) and associated with a lack of pigmentation of the iris (colored part of the eye). Treatment of Horner's syndrome depends on the underlying cause." "" + "idiopathic peripheral autonomic neuropathy" "" + "acquired night blindness" "An instance of night blindness that is acquired during the lifetime of the individual." "" + "night blindness" "Inability to see clearly in dim light." "" + "cardiac tamponade" "Acute compression of the heart caused by increased intrapericardial pressure due to the collection of blood or fluid in the pericardium from rupture of the heart, penetrating trauma, or progressive effusion." "" + "pericardial effusion" "Fluid collection within the pericardial sac, usually due to inflammation." "" + "congenital mitral valve insufficiency" "Dysfunction of the mitral valve characterized by incomplete valve closure." "" + "mitral valve disease" "A disease involving the mitral valve." "" + "diabetic autonomic neuropathy" "Autonomic neuropathy that is caused by diabetes mellitus." "" + "diabetic neuropathy" "A chronic, pathological complication associated with diabetes mellitus, where nerve damages are incurred due to diabetic microvascular injury involving small blood vessels that supply these nerves, resulting in peripheral and/or autonomic nerve dysfunction." "" + "rumination disorder" "Rumination disorder is the backward flow of recently eaten food from the stomach to the mouth. The food is then re-chewed and swallowed or spat out. A non-purposeful contraction of stomach muscles is involved in rumination. It may be initially triggered by a viral illness, emotional distress, or physical injury. In many cases, no underlying trigger is identified. Behavioral therapy is the mainstay of treatment." "" + "eating disorder" "A broad group of psychological disorders with abnormal eating behaviors leading to physiological effects from overeating or insufficient food intake." "" + "hypertensive heart disease" "Abnormal enlargement of the heart resulting from long-standing hypertension." "" + "abnormal pupillary function" "" + "benign hypertensive renal disease" "" + "laryngostenosis" "Narrowing of the laryngeal airway." "" + "recurrent corneal erosion" "" + "corneal abscess" "An abscess of the cornea." "" + "deep keratitis" "" + "corneal infection" "A viral or bacterial infectious process affecting the cornea. Symptoms include pain and redness in the eye, photophobia and eye watering." "" + "corneal deposit" "" + "third cranial nerve disease" "A disease involving the oculomotor nerve." "" + "neuro-ophthalmological disease" "" + "Bowman's membrane folds or rupture" "" + "obsolete Chandler syndrome" "" "true" + "acute serous otitis media" "A acute transudative otitis media with thin, watery and sterile effusion." "" + "acute transudative otitis media" "Acute form of non-suppurative otitis media." "" + "acute allergic serous otitis media" "A acute serous otitis media caused by an allergen." "" + "allergic otitis media" "A otitis media (disease) with a basis in a pathological type I hypersensitivity reaction." "" + "chondrocalcinosis" "An acute episode of pain, swelling, and redness, sometimes associated with fever. It is caused by the deposition of calcium pyrophosphate crystals in the joints." "" + "arthritic joint disease" "An inflammatory process affecting a joint. Causes include infection, autoimmune processes, degenerative processes, and trauma. Signs and symptoms may include swelling around the affected joint and pain." "" + "neurocirculatory asthenia" "A clinical syndrome characterized by palpitation, shortness of breath, labored breathing, subjective complaints of effort and discomfort, all following slight physical exertion. Other symptoms may be dizziness, tremulousness, sweating, and insomnia. Neurocirculatory asthenia is most typically seen as a form of anxiety disorder." "" + "streptococcal meningitis" "An infectious meningitis caused by infection with Streptococcus." "" + "phlyctenulosis" "" + "keratoconjunctivitis" "Inflammation of both the cornea and the conjunctiva." "" + "functional gastric disease" "" + "bladder lateral wall cancer" "" + "ring staphyloma" "" + "scleral staphyloma" "" + "pericardium cancer" "A malignant neoplasm involving the pericardium." "" + "heart cancer" "A malignant neoplasm involving the heart" "" + "neoplasm of pericardium" "A neoplasm (disease) that involves the pericardium." "" + "infant gynecomastia" "Transient bilateral swelling of breast tissue in a neonate that results from the waning influence of maternal estrogen." "" + "gynecomastia" "Development of breast tissue in males." "" + "hyperandrogenism" "A condition caused by the excessive secretion of androgens from the adrenal cortex; the ovaries; or the testes. The clinical significance in males is negligible. In women, the common manifestations are hirsutism and virilism as seen in patients with polycystic ovary syndrome and adrenocortical hyperfunction." "" + "difference of sexual differentiation" "A congenital disorder characterized by abnormalities in the development of the sexual characteristics." "" + "acne" "An inflammatory process of the sebaceous glands which is characterized by comedones, nodules, papules and/or pustules on the skin." "" + "penile cancer" "A primary or metastatic malignant neoplasm that affects the penis. Representative examples include penile carcinoma and penile sarcoma." "" + "penile neoplasm" "A benign, borderline, or malignant neoplasm that affects the penis. Representative examples include penile hemangioma, penile intraepithelial neoplasia, and penile carcinoma." "" + "dental pulp necrosis" "Death of pulp tissue with or without bacterial invasion. When the necrosis is due to ischemia with superimposed bacterial infection, it is referred to as pulp gangrene. When the necrosis is non-bacterial in origin, it is called pulp mummification." "" + "pelvic muscle wasting" "" + "prolapse of female genital organ" "" + "thyroid hormone resistance syndrome" "An inherited autosomal recessive trait, characterized by peripheral resistance to thyroid hormones and the resulting elevation in serum levels of thyroxine and triiodothyronine." "" + "inherited thyroid metabolism disease" "An acquired metabolic disease that is has its basis in the disruption of thyroid hormone metabolic process." "" + "hyperthyroxinemia" "Abnormally elevated thyroxine level in the blood." "" + "hypothyroidism" "Abnormally low levels of thyroid hormone." "" + "accommodative spasm" "" + "presbyopia" "The normal decreasing elasticity of the crystalline lens that leads to loss of accommodation." "" + "conjunctival deposit" "" + "palindromic rheumatism" "A syndrome that involves sudden and rapidly developing attacks of arthritis with a remission period that results in no joint damage or symptoms." "" + "hydrarthrosis" "Accumulation of watery fluid in the cavity of a joint. (Dorland, 27th ed)" "" + "rheumatic disorder" "Inflammatory and degenerative diseases of connective tissue structures, such as arthritis." "" + "obsolete Patau syndrome" "" "true" + "hypertrichosis of eyelid" "A hypertrichosis (disease) that involves the eyelid." "" + "hypertrichosis" "Excessive hair growth anywhere on the body." "" + "hypotrichosis of eyelid" "A hypotrichosis that involves the eyelid." "" + "hypotrichosis" "A congenital condition, usually due to genetic aberrations, that is characterized by a lack of hair growth on the head and/or body." "" + "familial hyperlipidemia" "An instance of hyperlipidemia (disease) that is caused by an inherited modification of the individual's genome." "" + "hyperlipidemia" "" + "inflamed seborrheic keratosis" "" + "seborrheic keratosis" "A common benign skin neoplasm usually affecting older individuals. The lesions usually are multiple and arise in the face, chest, and shoulders. They appear as black or brown, slightly elevated skin lesions." "" + "acute apical periodontitis" "" + "portal vein thrombosis" "The formation of a blood clot (thrombus) in the portal vein." "" + "hepatic vascular disease" "A non-neoplastic or neoplastic vascular disorder that affects the liver. Representative examples include veno-occlusive disease, hemangioma, lymphangioma, and angiosarcoma." "" + "cardiovascular cancer" "A primary or metastatic malignant neoplasm involving the cardiovascular system." "" + "thoracic cancer" "A primary or metastatic malignant neoplasm affecting the tissues of the thorax." "" + "heart neoplasm" "A neoplasm (disease) that involves the heart." "" + "selective IgA deficiency disease" "A dysgammaglobulinemia characterized by low or undetectable serum levels of immunoglobulin class A (IgA). It is the most common primary antibody deficiency. It may be inherited or the reversible sequela of infection or certain drugs. It may be caused by decreased or inefficient class-switching from progenitor B cells without any corresponding decreases in the other isotypes. Though affected persons may be asymptomatic, low levels of IgA will reduce the immune system's ability to combat infection where IgA is normally secreted, at mucosal surfaces. Selective IgA deficiency is seen in greater proportion among patients with autoimmune disorders." "" + "dysgammaglobulinemia" "An immunologic deficiency state characterized by selective deficiencies of one or more, but not all, classes of immunoglobulins." "" + "selective immunoglobulin deficiency disease" "A broad classification of dysgammaglobulinemias characterized by low or undetectable serum levels of one of the five immunoglobulin classes. Deficiencies of immunoglobulins present variably according to isotype. Selective deficiencies may be caused by decreased or inefficient production from progenitor B cells without any corresponding decreases in the other isotypes. The clinical course and prognosis is dependent upon the severity of the selective deficiency and associated morbidity." "" + "blood protein disease" "" + "impaired renal function disease" "Any disease in which the causes of the disease is a perturbation of the kidney leading to its dysfunction." "" + "obsolete neonatal diabetes mellitus" "" "true" + "antidepressant type abuse" "A substance abuse that involves the recurring use of antidepressant drugs despite negative consequences." "" + "obsolete distal muscular dystrophy" "" "true" + "facioscapulohumeral muscular dystrophy" "An autosomal dominant disorder affecting the skeletal muscles of the face, scapula, and upper arm. Patients present with muscle weakness in these anatomic areas. The muscle weakness eventually spreads to other skeletal muscles as well." "" + "progressive muscular dystrophy" "" + "obsolete Lyme disease" "" "true" + "odontoclasia" "" + "parametrium malignant neoplasm" "A malignant neoplasm involving the parametrium." "" + "uterine cancer" "Primary or metastatic malignant neoplasm involving the uterine corpus and/or the cervix." "" + "round ligament malignant neoplasm" "A malignant neoplasm involving the round ligament of uterus." "" + "peritoneum cancer" "A malignant neoplasm involving the peritoneum" "" + "ligament disease" "A disease or disorder that involves the ligament." "" + "Bordetella parapertussis infectious disease" "Any disease caused by infection with by Bordetella parapertussis. The symptoms are similar but less severe than Bordetella pertussis whooping cough." "" + "bordetellosis" "Any disease caused by infection with organisms of the genus Bordetella." "" + "pertussis" "A contagious bacterial respiratory infection caused by Bordetella pertussis. It is characterized by severe and uncontrollable cough, resulting in a whooping sound during breathing following the cough." "" + "obsolete acute endophthalmitis" "" "true" + "ocular siderosis" "A hemosiderosis that involves the camera-type eye." "" + "hemosiderosis" "Accumulation of iron in internal organs." "" + "iron deficiency anemia" "Anemia caused by low iron intake, inefficient iron absorption in the gastrointestinal tract, or chronic blood loss." "" + "bronchial disease" "A disease involving the bronchus." "" + "obsolete Kohler disease" "" "true" + "blind hypotensive eye" "" + "ocular hypotension" "Abnormally low intraocular pressure often related to chronic inflammation (uveitis)." "" + "spontaneous ocular nystagmus" "Involuntary movements of the eye that are divided into two types, jerk and pendular. Jerk nystagmus has a slow phase in one direction followed by a corrective fast phase in the opposite direction, and is usually caused by central or peripheral vestibular dysfunction. Pendular nystagmus features oscillations that are of equal velocity in both directions and this condition is often associated with visual loss early in life. (Adams et al., Principles of Neurology, 6th ed, p272)" "" + "pathologic nystagmus" "Involuntary movements of the eyeballs. The presence or absence of nystagmus is often used in the diagnosis of a variety of neurological and visual disorders." "" + "obsolete leukocoria" "An abnormal white reflection from the retina of the eye." "" "true" + "blind hypertensive eye" "" + "regular astigmatism" "" + "astigmatism" "Unequal curvature of the refractive surfaces of the eye. Thus a point source of light cannot be brought to a point focus on the retina but is spread over a more or less diffuse area. This results from the radius of curvature in one plane being longer or shorter than the radius at right angles to it. (Dorland, 27th ed)" "" + "necrosis of ear ossicle" "" + "middle ear disease" "A disease involving the middle ear." "" + "splenic sequestration" "" + "splenic disease" "A disease involving the spleen." "" + "chronic congestive splenomegaly" "Chronic form of congestive splenomegaly." "" + "congestive splenomegaly" "" + "phthisical cornea" "" + "chronic laryngitis" "Persistent laryngitis usually caused by smoking, heavy alcohol consumption, voice abuse, or gastroesophageal reflux disease. It results in hoarseness and other voice changes." "" + "protein-energy malnutrition" "A nutritional deficit that is caused by inadequate protein or calorie intake." "" + "bladder neck cancer" "A malignant neoplasm involving the neck of urinary bladder." "" + "disease of neck of urinary bladder" "" + "urinary bladder posterior wall cancer" "" + "bladder sarcoma" "A malignant mesenchymal cell neoplasm that affects the urinary bladder." "" + "bladder trigone cancer" "A malignant neoplasm involving the trigone of urinary bladder." "" + "bladder dome cancer" "Cancer of the upper, convex surface of the bladder." "" + "urinary bladder anterior wall cancer" "" + "vitreous syneresis" "" + "vitreous disease" "A disease involving the vitreous humor." "" + "urachus cancer" "A malignant neoplasm involving the urachus." "" + "ureteric orifice cancer" "A malignant neoplasm involving the ureteral orifice." "" + "ureter cancer" "A malignant neoplasm involving the ureter" "" + "bladder lymphoma" "A lymphoma that involves the urinary bladder." "" + "hepatorenal syndrome" "Hepatorenal syndrome is a form of impaired kidney function that occurs in individuals with advanced chronic liver disease. As many as 40% of individuals with cirrhosis and ascites will develop hepatorenal syndrome. Symptoms may include fatigue, abdominal pain, and a general feeling of ill health (malaise). There are two distinct types of hepatorenal syndrome. Type I progresses quickly (within days), leading to kidney failure. Individuals with type I typically have dramatically reduced urine output, edema, and jaundice, and often suffer from hepatic encephalopathy. Type II progresses more slowly, over weeks or months, and the symptoms are less severe. The cause of hepatorenal syndrome is unknown. A contributing factor seems to be a narrowing of the blood vessels that connect into the kidneys. This causes a decrease in blood flow to the kidneys, impairing their function. In some cases, triggers or precipitating factors (infections, blood loss from the gastrointestinal tract, low blood pressure) are involved. Treatment is aimed at helping the liver work better and maintaining kidney function. In many cases, a liver transplant is needed. In some cases, individuals also need a kidney transplant." "" + "acute kidney failure" "Sudden and sustained deterioration of the kidney function characterized by decreased glomerular filtration rate, increased serum creatinine or oliguria." "" + "degenerative myopia" "Excessive axial myopia associated with complications (especially posterior staphyloma and choroidal neovascularization) that can lead to blindness." "" + "myopia" "The condition in which the individual does not see far distances clearly." "" + "cortical blindness" "Visual impairment due to visual cortex dysfunction." "" + "blindness (disorder)" "The lack of vision. It is caused by neurological or physiological factors." "" + "visual cortex disease" "A disease involving the visual cortex." "" + "visual epilepsy" "Clinical or subclinical disturbances of cortical function due to a sudden, abnormal, excessive, and disorganized discharge of brain cells. Clinical manifestations include abnormal motor, sensory and psychic phenomena. Recurrent seizures are usually referred to as epilepsy or 'seizure disorder.'" "" + "reflex epilepsy" "Reflex epilepsy refers to epilepsies where recurrent seizures are provoked by a clearly defined extrinsic (most commonly) or intrinsic triggering stimuli such as flashing lights (photosensitive epilepsy), startling noises (startle epilepsy), urinating (micturition induced seizures), exposure to hot-water (hot water epilepsy), eating, reading, and thinking, while being associated with an enduring abnormal predisposition to have such seizures (thereby meeting the conceptual definition of epilepsy)." "" + "penile sarcoma" "A malignant soft tissue neoplasm that arises from the penis. Representative examples include Kaposi sarcoma, leiomyosarcoma, and angiosarcoma." "" + "glans penis cancer" "A malignant neoplasm involving the glans penis." "" + "coronary artery disease" "Narrowing of the coronary arteries due to fatty deposits inside the arterial walls. The diagnostic criteria may include documented history of any of the following: documented coronary artery stenosis greater than or equal to 50% (by cardiac catheterization or other modality of direct imaging of the coronary arteries); previous coronary artery bypass surgery (CABG); previous percutaneous coronary intervention (PCI); previous myocardial infarction. (ACC)" "" + "transient refractive change" "" + "indeterminate leprosy" "A leprosy that is an early form of the disease which causes one to a few hypopigmented or erythematous macules." "" + "leprosy" "Leprosy is a chronic infectious disease affecting primarily the skin and peripheral nervous system." "" + "monocular exotropia" "" + "peripheral focal chorioretinitis" "" + "focal chorioretinitis" "" + "chronic erythremia" "" + "macular keratitis" "" + "keratitis" "A corneal disease that is characterized by inflammation of the cornea." "" + "abnormal threshold of rods" "" + "mononeuropathy" "Disease or trauma involving a single peripheral nerve in isolation, or out of proportion to evidence of diffuse peripheral nerve dysfunction. Mononeuropathy multiplex refers to a condition characterized by multiple isolated nerve injuries. Mononeuropathies may result from a wide variety of causes, including ischemia; traumatic injury; compression; connective tissue diseases; cumulative trauma disorders; and other conditions." "" + "ureter benign neoplasm" "Cancer or tumors of the ureter which may cause obstruction leading to hydroureter, hydronephrosis, and pyelonephritis. hematuria is a common symptom." "" + "ureter neoplasm" "A benign or malignant neoplasm that affects the ureter." "" + "ureter leiomyoma" "A benign smooth muscle neoplasm arising from the ureter. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern." "" + "schwannoma of ureter" "A benign nerve sheath tumor composed of Schwann cells, occurring in the ureter." "" + "schwannoma" "A benign, usually encapsulated slow growing tumor composed of Schwann cells. It affects peripheral and cranial nerves. It recurs infrequently and only rare cases associated with malignant transformation have been reported." "" + "peripheral nerve schwannoma" "A benign, usually encapsulated slow growing tumor of the peripheral nervous system composed of Schwann cells. It recurs infrequently and only rare cases associated with malignant transformation have been reported." "" + "benign neoplasm of peripheral nervous system" "" + "female breast nipple and areola cancer" "" + "female breast carcinoma" "A carcinoma that arises from the breast in females. It is the most common malignant tumor that affects females." "" + "vaginal cancer" "A primary or metastatic malignant neoplasm involving the vagina. Representative examples include carcinomas and sarcomas." "" + "female reproductive organ cancer" "A primary or metastatic malignant neoplasm involving the female reproductive system. Representative examples include endometrial carcinoma, cervical carcinoma, ovarian carcinoma, uterine corpus leiomyosarcoma, adenosarcoma, malignant mixed mesodermal (mullerian) tumor, and gestational choriocarcinoma." "" + "labium majus cancer" "A malignant neoplasm involving the labium majora." "" + "vulva cancer" "A primary or metastatic malignant neoplasm involving the vulva." "" + "skin cancer" "A malignant neoplasm involving the zone of skin" "" + "ecthyma" "An ulcerative pyoderma usually caused by group A beta-hemolytic streptococcal infection at the site of minor trauma. (Dorland, 27th ed)" "" + "impetigo" "A contagious bacterial cutaneous infection that affects children and is usually caused by Staphylococcus aureus. It usually presents in the face with honey colored scabs." "" + "dermatophytosis of groin and perianal area" "Dermatophytosis involving the stratum corneum of the skin of the groin and perianal area." "" + "peripheral nervous system neoplasm" "A benign or malignant neoplasm arising from a peripheral nerve or the perineural sheaths." "" + "tracheal cancer" "A malignant neoplasm involving the trachea" "" + "trachea neoplasm" "A neoplasm (disease) that involves the trachea." "" + "ischemic neuropathy" "Neuropathy that is caused by inadequate blood supply." "" + "esophagitis" "An acute or chronic inflammatory disease affecting the esophageal wall." "" + "postmenopausal atrophic vaginitis" "Inflammation of the vagina due to thinning of the vaginal wall and decreased lubrication associated with reduced estrogen levels at menopause." "" + "vaginitis" "A non-infectious or infectious inflammatory process affecting the vagina." "" + "synostosis" "A disease characterized by abnormal union between adjacent bones or parts of a single bone formed by osseous material, such as ossified connecting cartilage or fibrous tissue." "" + "conjunctival concretion" "" + "ulceroglandular tularemia" "A tularemia that results in painful regional lymphadenopathy and an ulcerated skin lesion." "" + "osteopoikilosis" "A rare autosomal dominant inherited disorder characterized by the presence of small areas of increased density throughout the bones." "" + "osteosclerosis" "Abnormally high bone density." "" + "atrophy of testis" "Loss of testicular volume." "" + "tracheal lymphoma" "A rare lymphoma that arises from the trachea. Signs and symptoms include dyspnea, cough, wheezing, and stridor." "" + "trachea sarcoma" "A rare malignant soft tissue neoplasm that arises from the trachea." "" + "trachea squamous cell carcinoma" "A rare squamous cell carcinoma that arises from the mucosal lining of the trachea. It usually grows as an intraluminal mass and later invades extraluminal structures. The majority of patients present with hemoptysis, coughing, dyspnea, or stridor." "" + "trigeminal nerve neoplasm" "Benign and malignant neoplasms which arise from or metastasize to the trigeminal or fifth cranial nerve which provides sensory innervation to the face, oral cavity and sinuses and the muscles of mastication. Clinical features may include facial pain or sensory loss or weakness of jaw closure." "" + "cranial nerve neoplasm" "Abnormal growth of the cells that comprise the cranial nerves." "" + "trigeminal nerve disease" "A disease involving the trigeminal nerve." "" + "frontal lobe neoplasm" "A neoplasm involving a frontal lobe." "" + "neoplasm of cerebral hemisphere" "A neoplasm involving a cerebral hemisphere." "" + "primary aldosteronism" "An endocrine disorder characterized by excessive production of aldosterone by the adrenal glands. Causes include adrenal gland adenoma and adrenal gland hyperplasia. The overproduction of aldosterone results in sodium and water retention and hypokalemia. Patients present with high blood pressure, muscle weakness, and headache." "" + "adrenal gland disease" "A disease involving the adrenal gland." "" + "adrenal cortex adenoma" "A benign neoplasm that can arise from any of the adrenal cortical layers. It can be associated with the overproduction of glucocorticoids (Cushing's syndrome), androgenic or estrogenic steroids (adrenogenital syndrome), or mineralocorticoids (Conn's syndrome). (Sternberg Diagnostic Surgical Pathology, 3rd ed.)" "" + "drug-induced mental disorder" "" + "substance-induced psychosis" "" + "sarcoid meningitis" "Meningitis that arises from sarcoidosis." "" + "non-infectious meningitis" "" + "neurosarcoidosis" "A sarcoidosis that involves the nervous system." "" + "obsolete Rett syndrome" "" "true" + "mediastinum neurofibroma" "A neurofibroma that arises from the posterior mediastinum. Excision is usually curative." "" + "neurofibroma" "An intraneural or extraneural neoplasm arising from nerve tissues and neural sheaths. It is composed of perineurial-like fibroblasts and Schwann cells. It usually presents as a localized cutaneous lesion and less often as a circumscribed peripheral nerve mass. Patients with neurofibromatosis type 1 present with multiple masses. Neurofibromas which arise from major nerves and plexiform neurofibromas are precursor lesions to malignant peripheral nerve sheath tumors." "" + "Dieulafoy lesion" "Dieulafoy lesion is an abnormally large artery (a vessel that takes blood from the heart to other areas of the body) in the lining of the gastrointestinal system. It is most common in the stomach but can occur in other locations, including the small and large intestine. Dieulafoy lesions can cause severe and sudden gastrointestinal bleeding. The condition occurs in people of all ages, but is more common in males than in females.Depending upon the site of the bleeding, symptoms may include vomiting up blood (hematemesis); sticky, dark-colored stools (melena); passage of fresh blood in the stool (hematochezia); or coughing up blood (hemoptysis). Some affected individuals may only present with blood pressure problems. Treatment may include endoscopic and/or surgical techniques. Though treatment can be effective, Dieulafoy lesions and the associated blood loss can be fatal, especially if not diagnosed and treated promptly." "" + "pylorospasm" "" + "transient arthropathy" "Arthropathy that is not permanent." "" + "arthropathy" "Any disorder of the joints." "" + "deep corneal vascularisation" "" + "corneal neovascularization" "New blood vessels originating from the corneal veins and extending from the limbus into the adjacent corneal stroma. Neovascularization in the superficial and/or deep corneal stroma is a sequel to numerous inflammatory diseases of the ocular anterior segment, such as trachoma, viral interstitial keratitis, microbial keratoconjunctivitis, and the immune response elicited by corneal transplantation." "" + "toxic or nutritional optic neuropathy" "A disease with basis in optic nerve damage secondary to a toxic substance and/or nutritional deficiency." "" + "optic neuritis" "Optic neuritis is inflammation of the optic nerve, the nerve that carries the visual signal from the eye to the brain.The conditionmay cause sudden, reduced vision in the affected eye(s). While the cause of optic neuritis is unknown, it has been associated with autoimmune diseases, infections, multiple sclerosis, drug toxicity and deficiency of vitamin B-12. Vision often returns to normal within 2-3 weeks without treatment. In some cases, corticosteroids are given to speed recovery. If known, the underlying cause should be treated." "" + "obsolete sodoku disease" "" "true" + "vaginal disease" "A non-neoplastic or neoplastic disorder that affects the vagina. Representative examples include vaginal infection, vaginal polyp, and vaginal squamous cell carcinoma." "" + "inflammatory spondylopathy" "" + "spondylitis" "The inflammation of a vertebra." "" + "bullous retinoschisis" "" + "retinoschisis" "An inherited or acquired disorder characterized by splitting of the retina into two layers. It results in loss of vision." "" + "iron metabolism disease" "Disorders in the processing of iron in the body: its absorption, transport, storage, and utilization. (From Mosby's Medical, Nursing, & Allied Health Dictionary, 4th ed)" "" + "pulmonary alveolar proteinosis" "A rare lung disorder characterized by the filling of the pulmonary alveoli with proteinaceous material which stains positive with periodic acid-Schiff stain. It may be idiopathic or secondary due to hematologic malignancies or the inhalation of mineral dusts. Signs and symptoms include dyspnea, cough and low grade fever." "" + "postinflammatory pulmonary fibrosis" "" + "episcleritis periodica fugax" "" + "neurotrophic keratoconjunctivitis" "" + "pica disease" "An eating disorder characterized by the persistent eating of nonnutritive substances such as clay or soil; this behavior must be inappropriate to the level of the individual's development." "" + "dysthymic disorder" "A chronic mood disorder in which the symptoms are similar to, though milder than, those diagnosed in depression." "" + "mood disorder" "A cognitive disorder a disturbance in which the person's mood is hypothesized to be the main underlying feature." "" + "tympanosclerosis" "The formation of dense connective tissue in the tympanic membrane that does not necessarily cause or lead to loss of hearing." "" + "tympanic membrane disease" "A disease involving the tympanic membrane." "" + "Chagas disease" "A parasitic infection caused by Trypanosoma cruzi. It is transmitted by insect bites. It is characterized by an acute and chronic phase; in the acute phase patients may have fever, malaise, and swelling at the site of the insect bite. In the chronic phase patients develop hepatosplenomegaly, lymphadenopathy, cardiomyopathy and arrhythmias." "" + "obsolete neurogenic bladder" "Malfunctioning urinary bladder due to central nervous system disorders or damage to the peripheral nerves that are involved in the control of urination. Causes include spinal cord injuries, neural tube defects, brain tumors, strokes, and peripheral neuropathies (e.g., AIDS neuropathy and diabetic neuropathy)." "" "true" + "low compliance bladder" "" + "urinary bladder disease" "A disease involving the urinary bladder." "" + "detrusor sphincter dyssynergia" "" + "obsolete alveolar echinococcosis" "" "true" + "lymphocytic choriomeningitis" "A form of meningitis caused by lymphocytic choriomeningitis virus. mice and other rodents serve as the natural hosts, and infection in humans usually occurs through inhalation or ingestion of infectious particles. Clinical manifestations include an influenza-like syndrome followed by stiff neck, alterations of mentation, ataxia, and incontinence. Maternal infections may result in fetal malformations and injury, including neonatal hydrocephalus, aqueductal stenosis, chorioretinitis, and microcephaly. (From Joynt, Clinical Neurology, 1996, Ch26, pp1-3)" "" + "viral infection of central nervous system" "" + "obsolete arachnoiditis" "" "true" + "peripheral retinal degeneration" "Degeneration of the peripheral retina." "" + "retinal degeneration" "Degeneration of the retina." "" + "pseudoretinitis pigmentosa" "" + "senile reticular retinal degeneration" "" + "Blessig's cysts" "" + "retinal lattice degeneration" "" + "cobblestone retinal degeneration" "" + "secondary vitreoretinal degeneration" "" + "ulnar nerve lesion" "A peripheral nerve lesion that involves the ulnar nerve." "" + "peripheral nerve lesion" "" + "ulnar neuropathy" "Disease involving the ulnar nerve from its origin in the brachial plexus to its termination in the hand. Clinical manifestations may include paresis or paralysis of wrist flexion, finger flexion, thumb adduction, finger abduction, and finger adduction. Sensation over the medial palm, fifth finger, and ulnar aspect of the ring finger may also be impaired. Common sites of injury include the axilla, cubital tunnel at the elbow, and Guyon's canal at the wrist. (From Joynt, Clinical Neurology, 1995, Ch51 pp43-5)" "" + "neuritis of upper limb" "A neuritis that involves the forelimb." "" + "radial neuropathy" "Disease involving the radial nerve. Clinical features include weakness of elbow extension, elbow flexion, supination of the forearm, wrist and finger extension, and thumb abduction. Sensation may be impaired over regions of the dorsal forearm. Common sites of compression or traumatic injury include the axilla and radial groove of the humerus." "" + "brachial plexus neuropathy" "A brachial plexus disorder characterized by regional paresthesia, pain and muscle weakness, and limited movement in the arm or hand." "" + "dyshormonogenic goiter" "" + "goiter" "Enlargement of the thyroid gland usually caused by lack of iodine in the diet, hyperthyroidism, or thyroid nodules. Symptoms include difficulty in breathing and swallowing." "" + "descending colon cancer" "A malignant neoplasm involving the descending colon." "" + "malignant colon neoplasm" "A primary or metastatic malignant neoplasm that affects the colon. Representative examples include carcinoma, lymphoma, and sarcoma." "" + "splenic flexure cancer" "A malignant neoplasm involving the splenic flexure of colon." "" + "sigmoid colon cancer" "A malignant neoplasm involving the sigmoid colon." "" + "sigmoid neoplasm" "Tumors or cancer of the sigmoid colon." "" + "superficial keratitis" "" + "punctate epithelial keratoconjunctivitis" "" + "obsolete specific bursitis often of occupational origin" "" "true" + "synovial plica syndrome" "" + "synovium disease" "A disease or disorder that involves the layer of synovial tissue." "" + "cascade stomach" "" + "anal margin squamous cell carcinoma" "A squamous cell carcinoma arising from the perianal skin." "" + "skin squamous cell carcinoma" "A carcinoma arising from the squamous cells of the epidermis. Skin squamous cell carcinoma is most commonly found on sun-exposed areas. The majority of the tumors are well-differentiated." "" + "anal margin carcinoma" "A carcinoma that arises from epithelial cells of the perianal skin" "" + "anal squamous cell carcinoma" "A squamous cell carcinoma (SCC) arising from the anal canal or the anal margin (perianal skin). Human papillomavirus is detected in the majority of cases. Homosexual HIV-positive men have an increased risk of developing anal squamous cell carcinoma in comparison to the general male population. Symptoms include anal pruritus, discomfort when sitting, pain, change in bowel habit, and bleeding. The prognosis is generally better for anal margin SCC than for anal canal SCC." "" + "histoplasmosis meningitis" "An infectious meningitis caused by infection with Histoplasma capsulatum." "" + "fungal meningitis" "Meningitis caused by fungal agents which may occur as opportunistic infections or arise in immunocompetent hosts." "" + "testicular lymphoma" "A lymphoma that arises from the testis and is not associated with lymphoma in another anatomic site." "" + "medulloadrenal hyperfunction" "" + "chronic salpingo-oophoritis" "Chronic form of salpingo-oophoritis." "" + "chronic salpingitis" "Chronic inflammation of the fallopian tube. It usually follows an acute inflammatory attack." "" + "agranulocytosis" "A decrease in the number of mature granulocytes (neutrophils, eosinophils, and basophils) in the peripheral blood." "" + "non-syndromic developmental defect of the eye" "A developmental defect of the eye that is not part of a larger syndrome." "" + "obsolete aniridia" "" "true" + "anisometropia" "A condition of an inequality of refractive power of the two eyes." "" + "cutaneous diphtheria" "A usually mild form of diphtheria characterized by infection of the skin by corynebacterium diphtheria and the resulting formation of a chronic, shallow ulcer that is sometimes bordered or followed by a bulla." "" + "pyoderma" "Any skin disease that is pyegenic." "" + "malignant tumor of undescended testis" "" + "femoral vein thrombophlebitis" "A thrombophlebitis that involves the femoral vein." "" + "testicular leukemia" "A myeloid or more commonly lymphoid leukemia (acute or chronic) affecting the testis. Microscopically, there is interstitial infiltration of the testis by leukemic cells. Acute lymphoblastic leukemia with testicular involvement is not uncommon in boys. Sometimes (up to 10% of the cases), testicular involvement may be the initial manifestation of relapsed acute lymphoblastic leukemia. --03" "" + "bone marrow cancer" "Malignant neoplasms that either originate from the bone marrow (e.g. myeloid leukemias) or involve the bone marrow as secondary-metastatic tumors (e.g. metastatic carcinomas to the bone marrow). --2003" "" + "obsolete Crimean-Congo hemorrhagic fever" "" "true" + "paranoid schizophrenia" "A subtype of schizophrenia characterized by prominent delusions (typically persecutory or grandiose) or hallucinations in the context of a relative preservation of cognitive functioning and affect." "" + "schizophrenia" "A major psychotic disorder characterized by abnormalities in the perception or expression of reality. It affects the cognitive and psychomotor functions. Common clinical signs and symptoms include delusions, hallucinations, disorganized thinking, and retreat from reality." "" + "atypical depressive disorder" "A mood disorder that is characterized by mood reactivity (paradoxical anhedonia) and positivity, significant weight gain or increased appetite (\"comfort eating\"), excessive sleep or somnolence (hypersomnia), a sensation of heaviness in limbs known as leaden paralysis, and significant social impairment as a consequence of hypersensitivity to perceived interpersonal rejection." "" + "obsolete Vogt-Koyanagi-Harada disease" "" "true" + "intrahepatic bile duct cancer" "A cancer that involves the intrahepatic bile duct." "" + "bile duct cancer" "A malignant neoplasm involving the bile duct" "" + "gallbladder cancer" "A malignant neoplasm involving the gall bladder" "" + "anterior corneal pigmentation" "" + "obsolete urticaria pigmentosa" "" "true" + "corneal granular dystrophy" "A stromal corneal dystrophy that is caused by mutation(s) in the TGFBI gene." "" + "cough variant asthma" "An asthma that is characterized by chronic nonproductive cough without shortness of breath." "" + "asthma" "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors resulting in recurring periods of wheezing (a whistling sound while breathing), chest tightness, shortness of breath, mucus production and coughing. The symptoms appear due to a variety of triggers such as allergens, irritants, respiratory infections, weather changes, exercise, stress, reflux disease, medications, foods and emotional anxiety." "" + "kyphoscoliotic heart disease" "" + "chronic pulmonary heart disease" "Heart disease which occurs as a result of a primary pulmonary disease. Cor pulmonale most often manifests as right ventricular hypertrophy; it can also lead to right ventricular failure." "" + "cor pulmonale" "Hypertrophy and dilation of the right ventricle of the heart that is caused by pulmonary hypertension. This condition is often associated with pulmonary parenchymal or vascular diseases, such as chronic obstructive pulmonary disease and pulmonary embolism." "" + "obsolete transvestism" "A disorder characterized by recurrent sexual urges, fantasies, or behaviors in a heterosexual male involving cross-dressing." "" "true" + "hematocele of tunica vaginalis testis" "Hemorrhage into a canal or cavity of the body, such as the space covered by the serous membrane (tunica vaginalis) around the testis leading to testicular hematocele or scrotal hematocele." "" + "male genital organ stricture" "" + "male genital organ vascular disease" "" + "varicocele" "A condition characterized by the dilated tortuous veins of the spermatic cord with a marked left-sided predominance. Adverse effect on male fertility occurs when varicocele leads to an increased scrotal (and testicular) temperature and reduced testicular volume." "" + "pelvic varices" "A varicose disease that involves the pelvic region of trunk." "" + "scrotal disease" "A disease or disorder that involves the scrotum." "" + "retroperitoneal lymphoma" "A lymphoma that involves the retroperitoneal space." "" + "retroperitoneal cancer" "A primary or metastatic malignant neoplasm involving the retroperitoneum. The vast majority of cases are carcinomas, lymphomas, or sarcomas." "" + "retroperitoneal sarcoma" "A sarcoma involving a retroperitoneal space." "" + "retroperitoneum carcinoma" "A carcinoma that arises from epithelial cells of the retroperitoneal space." "" + "primary eye hypotony" "" + "fetishism" "A disorder characterized by recurrent sexual urges, fantasies, or behaviors involving the use of nonliving objects such as women's wearing apparel (the \"fetish\")." "" + "alcoholic hepatitis" "Acute hepatitis resulting from ingestion of alcohol." "" + "hepatitis" "An active inflammatory process affecting the liver for more than six months. Causes include viral infections, autoimmune disorders, drugs, and metabolic disorders." "" + "alcoholic liver diseases" "A disorder caused by damage to the liver parenchyma due to alcohol consumption. It may present with an acute onset or follow a chronic course, leading to cirrhosis." "" + "prostatocystitis" "" + "prostatitis" "An infectious or non-infectious inflammatory process affecting the prostate gland." "" + "viral labyrinthitis" "An labyrinthitis caused by infection with Viruses." "" + "labyrinthitis" "Inflammation of the inner ear. The cause is often not clear. It may be due to a virus, but it can also arise from bacterial infection, head injury, extreme stress, an allergy, or as a reaction to medication." "" + "ear infection" "A viral or bacterial infection that affects the external, middle, or inner ear. It may follow an upper respiratory infection. Signs and symptoms include pain, ear discharge, ear fullness, hearing loss, vertigo, nausea, and vomiting." "" + "patulous eustachian tube" "A eustachian tube disorder with a wider eustachian tube which allows a larger bolus of bacteria-laden material from the nasopharynx during an infection to enter the middle ear, causing a more fulminant infection." "" + "eustachian tube disease" "A disease involving the pharyngotympanic tube." "" + "endocrine exophthalmos" "" + "lateral displacement of eye" "" + "thyrotoxic exophthalmos" "" + "intermittent proptosis" "" + "pulsating exophthalmos" "" + "prolapse of urethra" "Prolapse of the urethral mucosa from the exterior urethral opening." "" + "urethral disease" "A disease involving the urethra." "" + "anterior horn disease" "Anterior horn disease is one of a number of medical disorders affecting the anterior horn of the spinal cord. Anterior horn diseases include spinal muscular atrophy, poliomyelitis and amyotrophic lateral sclerosis." "" + "spastic entropion" "" + "entropion" "The turning inward (inversion) of the edge of the eyelid, with the tarsal cartilage turned inward toward the eyeball. (Dorland, 27th ed)" "" + "kleptomania" "A disorder characterized by the recurrent failure to resist the impulse to steal items of little intrinsic value; the individual experiences a rising subjective sense of tension before the theft and a sense of gratification or relief during the theft." "" + "intermittent explosive disorder" "A disorder characterized by recurrent episodes of serious assaultive acts or destruction of property due to a failure to resist aggressive impulses; the degree of aggression during these episodes is grossly out of proportion to any psychosocial provocation. The aggressive episodes are not etiologically linked to another mental disorder, a general medical condition, or substance use." "" + "pyromania" "A disorder characterized by a fascination with fire and recurrent episodes of fire setting during which the individual experiences a rising subjective sense of tension before the fire setting and a sense of gratification or relief when setting the fire. There is no ulterior motive (such as monetary gain or the expression of political ideology) to the fire setting." "" + "luxation of globe" "" + "globe disease" "" + "thyrocalcitonin secretion disease" "" + "thyroid gland disease" "A disease involving the thyroid gland." "" + "labia minora cancer" "A malignant neoplasm that affects the labia minora." "" + "conjugate gaze palsy" "" + "pancytopenia" "A finding of low numbers of red and white blood cells and platelets in the peripheral blood." "" + "secondary hyperparathyroidism of renal origin" "" + "secondary hyperparathyroidism" "Overproduction of parathyroid hormone in response to influence external to the parathyroid glands." "" + "non-renal secondary hyperparathyroidism" "" + "capillariasis" "A infectious disease involving the Capillaria." "" + "pes anserinus tendinitis or bursitis" "" + "enthesopathy" "A disorder involving the attachment of a tendon or ligament to a bone" "" + "ocular hyperemia" "" + "vagus nerve disease" "A disease involving the vagus nerve." "" + "glossopharyngeal nerve disease" "A disease involving the glossopharyngeal nerve." "" + "vaginal leiomyoma" "A benign smooth muscle neoplasm arising from the vagina. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern." "" + "tuberculous epididymitis" "An urogenital tuberculosis involving a pathogenic inflammatory response in the epididymis." "" + "epididymitis" "Inflammation of the epididymis. Its clinical features include enlarged epididymis, a swollen scrotum; pain; pyuria; and fever. It is usually related to infections in the urinary tract, which likely spread to the epididymis through either the vas deferens or the lymphatics of the spermatic cord." "" + "male genital tuberculosis" "Mycobacterium infections of the male reproductive tract (genitalia, male)." "" + "retinal ischemia" "A ischemic disease that involves the retina." "" + "neurovascular disease" "A disorder of the nervous system related to a vascular etiology." "" + "retinal perforation" "A usually small tearing of the retina occurring when the vitreous separates from the retina. It may lead to retinal detachment. Symptoms include flashes and floaters." "" + "retinal detachment" "An eye emergency condition which may lead to blindness if left untreated. It is characterized by the separation of the inner retina layers from the underlying pigment epithelium. Causes include trauma, advanced diabetes mellitus, high myopia, and choroid tumors. Symptoms include sudden appearance of floaters, sudden light flushes, and blurred vision." "" + "bagassosis" "An occupational lung disorder caused by inhalation of bagasse dust. In the acute phase, it manifests as cough, dyspnea, fever, chills, and weakness. Chronic exposure may lead to interstitial lung fibrosis." "" + "plantar nerve lesion" "A peripheral nerve lesion that involves the plantar nerve." "" + "lesion of sciatic nerve" "A peripheral nerve lesion that involves the sciatic nerve." "" + "mononeuritis of lower limb" "A mononeuritis simplex that involves the hindlimb." "" + "common peroneal nerve lesion" "A peripheral nerve lesion that involves the common fibular nerve." "" + "lumbosacral plexus lesion" "A nerve plexus disease that involves the lumbosacral nerve plexus." "" + "sciatic neuropathy" "Disease or damage involving the SCIATIC NERVE, which divides into the PERONEAL NERVE and TIBIAL NERVE (see also PERONEAL NEUROPATHIES and TIBIAL NEUROPATHY). Clinical manifestations may include SCIATICA or pain localized to the hip, PARESIS or PARALYSIS of posterior thigh muscles and muscles innervated by the peroneal and tibial nerves, and sensory loss involving the lateral and posterior thigh, posterior and lateral leg, and sole of the foot. The sciatic nerve may be affected by trauma; ISCHEMIA; COLLAGEN DISEASES; and other conditions. (From Adams et al., Principles of Neurology, 6th ed, p1363)" "" + "tibial nerve palsy" "" + "obsolete von willebrand disease" "" "true" + "hypermobility of coccyx" "" + "spondyloarthropathy" "A group of inflammatory rheumatic diseases associated with arthritis and enthesitis, and often involving the axial skeleton. The most common form of spondyloarthritis is ankylosing spondylitis. Other forms include axial spondyloarthritis, peripheral spondyloarthritis, reactive arthritis, psoriatic arthritis/spondylitis and enteropathic arthritis/spondylitis." "" + "atrophic nonflaccid tympanic membrane" "" + "hepatic coma" "A syndrome characterized by central nervous system dysfunction in association with liver failure, including portal-systemic shunts. Clinical features include lethargy and confusion (frequently progressing to coma); asterixis; nystagmus, pathologic; brisk oculovestibular reflexes; decorticate and decerebrate posturing; muscle spasticity; and bilateral extensor plantar reflexes (see reflex, babinski). electroencephalography may demonstrate triphasic waves. (From Adams et al., Principles of Neurology, 6th ed, pp1117-20; Plum & Posner, Diagnosis of Stupor and Coma, 3rd ed, p222-5)" "" + "hepatic encephalopathy" "Hepatic encephalopathy is a syndrome observed in some patients with cirrhosis. It is defined as a spectrum of neuropsychiatric abnormalities in patients with liver dysfunction, when other known brain disease has been excluded.Signs and symptomsmay be debilitating, and they can begin mildly and gradually, or occur suddenly and severely. They may includepersonality or moodchanges, intellectual impairment, abnormal movements,a depressed level of consciousness, and other symptoms.There are several theories regarding the exact cause, butdevelopment of the condition isprobablyat least partiallydue to the effect of substances that are toxic to nerve tissue (neurotoxic), which are typically present with liver damage and/or liver disease. Treatment depends upon the severity of mental status changes and upon the certainty of the diagnosis." "" + "hemolytic-uremic syndrome" "Acute kidney injury associated with microangiopathic hemolytic anemia and thrombocytopenia." "" + "familial hemolytic anemia" "A congenital hemolytic anemia caused by defects of the erythrocyte membrane, enzyme deficiencies, or hemoglobinopathies." "" + "thrombotic microangiopathy" "The syndromes of microangiopathic hemolytic anemia, thrombocytopenia, and variable signs of organ impairment, due to platelet aggregation in the microcirculation." "" + "inherited blood coagulation disorder" "Hemorrhagic and thrombotic disorders that occur as a consequence of inherited abnormalities in blood coagulation." "" + "obsolete rare constitutional hemolytic anemia" "True" "true" + "obsolete Duane retraction syndrome" "" "true" + "ulceration of vulva" "" + "vulvar disease" "A non-neoplastic or neoplastic disorder that affects the vulva. Representative examples include infection, Bartholin gland adenoma, and vulvar carcinoma." "" + "dyscalculia" "A wide group of related learning disorders characterized by difficulties with mathematics and manipulating numbers; the difficulty with math may be caused or exacerbated by visuo-spatial or language processing difficulties." "" + "phacolytic glaucoma" "An abnormal condition characterized by an acute autoimmune reaction of the eye. It is caused by hypersensitivity of the eye to the protein of the crystalline lens and commonly follows trauma to the crystalline lens or cataract surgery. Associated symptoms include swelling and inflammation of the eye, severe pain, and blurred vision. The substance of the lens is invaded by polymorphonuclear cells and mononuclear phagocytes. Accurate diagnosis must differentiate between this condition and infectious endophthalmitis. Therapy is supportive and commonly includes the administration of corticosteroids and atropine. Refractory cases may require surgical removal of the lens." "" + "phacogenic glaucoma" "Secondary glaucoma caused by either excessive size or spheric shape of the lens." "" + "neonatal thyrotoxicosis" "A hypermetabolic syndrome characterized by tachycardia, palpitations, tremor, weight loss, and moist skin that is caused by the elevation of thyroid hormone levels in the serum of the newborn infant or thyroid-axis receptor activation, most commonly due to transplacental passage of thyroid stimulating globulins." "" + "thyrotoxicosis" "A hypermetabolic syndrome caused by the elevation of thyroid hormone levels in the serum. Signs and symptoms include tachycardia, palpitations, tremor, weight loss, warm weather intolerance, and moist skin. Causes include Graves disease, toxic nodular goiter, toxic thyroid nodule, and lymphocytic thyroiditis." "" + "urethral obstruction" "Blockage of the normal flow of urine in the urethra." "" + "olecranon bursitis" "A bursitis that involves the olecranon." "" + "bursitis" "Inflammation or irritation of a synovial bursa, the fibrous sac that acts as a cushion between moving structures of bones, muscles, tendons or skin." "" + "Potter sequence" "A rare, lethal congenital malformation characterized by bilateral renal agenesis and the absence or decreased volume of amniotic fluid (oligohydramnios). The presence of oligohydramnios gives rise to congenital anomalies that include hypoplastic lungs, lower extremities abnormalities, and characteristic facial features (low-set ears, widely separated eyes, nose flattening, and receding chin). Newborn infants usually die of respiratory failure." "" + "oligohydramnios" "A lower than normal quantity of amniotic fluid in the amniotic sac as compared to normal values. Typically associated with an amniotic fluid index (AFI) of less than 5 cm or a single maximum vertical pocket (MVP) of less than 2 cm." "" + "bilateral renal agenesis" "Bilateral renal agenesis is the most profound form of renal agenesis, characterized by complete absence of kidney development, absent ureters and subsequent absence of fetal renal function resulting in Potter sequence with pulmonary hypoplasia related to oligohydramnios, which is fatal shortly after birth." "" + "perineocele" "" + "hypertrophic pyloric stenosis" "An abnormality characterized by thickening of the muscle in the wall of the pylorus. It results in the narrowing of the pyloric channel. The overlying mucosa may appear hypertrophic as well. Clinical signs and symptoms appear early in life and include projectile vomiting and dehydration." "" + "pyloric stenosis" "Narrowing of the pyloric lumen caused either by hypertrophy of the surrounding muscles or tissue scarring due to a chronic peptic ulcer." "" + "displacement of cardia through esophageal hiatus" "" + "hiatus hernia" "Herniation of the upper part of the stomach through the diaphragm." "" + "vestibulocochlear nerve disease" "A disease involving the vestibulocochlear nerve." "" + "retrocochlear disease" "Pathological processes involving the vestibulocochlear nerve; brainstem; or central nervous system. When hearing loss is due to retrocochlear pathology, it is called retrocochlear hearing loss." "" + "cranial nerve neuropathy" "A neoplastic or non-neoplastic disorder that affects one of the cranial nerves." "" + "binocular vision disease" "Any inability to efficiently utilize and/or sustain binocular vision." "" + "abnormal retinal correspondence" "" + "calcium metabolic disease" "Disorders in the processing of calcium in the body: its absorption, transport, storage, and utilization." "" + "nephrocalcinosis" "Nephrocalcinosis is a disorder that occurs when too much calcium is deposited in the kidneys. It commonly occurs in premature infants. Individuals may not have symptoms or may have symptoms related to thecondition causing nephrocalcinosis. If kidney stones are present, symptoms may include blood in the urine, fever and chills, nausea and vomiting, and severe pain in the belly area, sides of the back (flank), groin, or testicles. Later symptoms may be associated with chronic kidney failure. It may be caused by use of certain medications or supplements, infection, or any condition that leads to high levels of calcium in the blood or urine including hyperparathyroidism, renal tubular acidosis, Alport syndrome, Bartter syndrome,and a variety of other conditions. Some of the underlying disorders that can cause nephrocalcinosis are genetic, with the inheritance pattern depending on the specific disorder. Treatment differs depending on the cause of nephrocalcinosis and often aims to prevent more calcium from being deposited in the kidneys." "" + "calcinosis" "Deposition of calcium in the tissues. It may be the result of a metabolic disorder or long-standing infection, or it may be associated with the presence of cancer." "" + "mixed receptive-expressive language disorder" "A disorder characterized by an impairment in the development of an individual's expressive and receptive language capabilities which is in contrast to his/her nonverbal intellect. The impairment may be acquired (i.e., due to a brain lesion or head trauma) or developmental (i.e., no known neurological insult)." "" + "acoustic neuroma" "A type of benign brain tumor that begins in the Schwann cells, which produce the myelin that protects the acoustic nerve - the nerve of hearing." "" + "obsolete locked-in syndrome" "" "true" + "benign smooth muscle neoplasm" "A benign mesenchymal neoplasm arising from smooth muscle tissue." "" + "obsolete Friedreich ataxia" "" "true" + "capillary disease" "A disease involving a capillary." "" + "chronic gonococcal salpingitis" "Chronic form of gonococcal salpingitis." "" + "gonococcal salpingitis" "An salpingitis caused by infection with Neisseria gonorrhoeae." "" + "telangiectasis" "Local dilatation of small vessels resulting in red discoloration of the skin or mucous membranes." "" + "vascular ectasia" "" + "respiratory syncytial virus infectious disease" "Infection with the respiratory syncytial virus, an RNA virus of the genus Pneumovirus, in the family Paramyxoviridae, which is characterized by the formation of syncytia in tissue culture. It causes minor respiratory infection with rhinitis and cough in adults, but is capable of causing severe bronchitis and bronchopneumonia in young children." "" + "Mononegavirales infectious disease" "Infections with viruses of the order mononegavirales. The concept includes filoviridae infections; paramyxoviridae infections; and rhabdoviridae infections." "" + "viral respiratory tract infection" "A respiratory tract infection caused by a virus. Viruses represent the most common causes of upper and lower respiratory tract infections and include rhinoviruses, influenza viruses, parainfluenza viruses, and respiratory syncytial virus." "" + "hernia of ovary and fallopian tube" "" + "corneal staphyloma" "" + "lacrimal duct cancer" "A primary or metastatic malignant neoplasm affecting the lacrimal duct." "" + "lacrimal system cancer" "A cancer that involves the lacrimal apparatus." "" + "obsolete tolosa-hunt syndrome" "" "true" + "cicatricial ectropion" "" + "ectropion" "The turning outward (eversion) of the edge of the eyelid, resulting in the exposure of the palpebral conjunctiva. (Dorland, 27th ed)" "" + "diabetic polyneuropathy" "" + "ocular motility disease" "" + "hallucinogen abuse" "A substance abuse that involves the recurring use of hallucinogenic drugs despite negative consequences." "" + "mucopolysaccharidosis type 1" "The most common type of mucopolysaccharidosis. It is inherited in an autosomal recessive pattern. It comprises a group of lysosomal storage diseases which includes the most severe form (Hurler syndrome) and the mildest form (Scheie syndrome)." "" + "mucopolysaccharidosis" "A group of autosomal recessive or X-linked inherited lysosomal storage disorders affecting the metabolism of mucopolysaccharides, resulting in the accumulation of mucopolysaccharides in the body. Signs and symptoms include organomegaly, mental retardation, abnormal skeletal development, heart disorders, hearing loss, and central nervous system deficiencies." "" + "lysosomal storage disease with skeletal involvement" "True" + "metabolic disease with corneal opacity" "True" + "obsolete eyebrow hypertrophy" "" "true" + "obsolete mucopolysaccharidosis type 4" "" "true" + "chronic lacrimal gland enlargement" "" + "dacryoadenitis" "Inflammation and enlargement of the lacrimal gland." "" + "obsolete vaginal enterocele" "" "true" + "quadriplegia" "Paralysis of all four limbs." "" + "senile entropion" "" + "Achilles bursitis" "An bursitis involving a pathogenic inflammatory response in the calcaneal tendon." "" + "skeletal ligament disease" "A disease or disorder that involves the skeletal ligament." "" + "choreatic disease" "A neurological condition affecting the involuntary movements. It is characterized by brief, non-repetitive irregular muscle contractions. It is seen in patients with Huntington's disease." "" + "neurodegenerative disease with chorea" "True" + "Huntington disease-like syndrome" "" + "hypochondriasis" "A somatoform disorder in which an individual is preoccupied with having a serious illness despite not having been given a corroborating diagnosis." "" + "submandibular gland disease" "A disease involving the submandibular gland." "" + "benign lymphoepithelial lesion of salivary gland" "A benign lesion that involves the salivary glands, usually the parotid gland. It affects females more often than males and it may be a manifestation of autoimmune diseases such as Sjogren syndrome. There is an increased incidence of benign lymphoepithelial lesions in HIV-positive patients. It is characterized by the presence of a marked lymphocytic infiltrate and epi-myoepithelial islands in the affected salivary gland. Patients usually present with firm and painless swelling of the affected salivary gland. There is an increased risk for development of lymphoma." "" + "obsolete Mikulicz disease" "" "true" + "mucocele of salivary gland" "A benign cyst located in the salivary gland that is lined by epithelium and filled with mucoid fluid, tissue, or other material; it is usually caused by duct obstruction." "" + "Plasmodium ovale malaria" "An malaria caused by infection with Plasmodium ovale." "" + "malaria" "Malaria is a serious and sometimes fatal disease caused by a parasite that commonly infects a certain type of mosquito which feeds on humans. Infection with malaria parasites may result in a wide variety of symptoms, ranging from absent or very mild symptoms to severe disease and even death. People who get malaria are typically very sick with high fevers, shaking chills, and flu-like illness. In general, malaria is a curable disease if diagnosed and treated promptly and correctly.Treatment depends on many factors including disease severity, the species of malaria parasite causing the infection and the part of the world in which the infection was acquired." "" + "labia minora carcinoma" "A carcinoma that arises from the labia minora." "" + "skin carcinoma" "A carcinoma that arises from epithelial cells of the zone of skin" "" + "vulvar carcinoma" "A carcinoma that arises from epithelial cells of the mammalian vulva" "" + "paralytic lagophthalmos" "" + "lagophthalmos" "" + "" "true" + "aleukemic leukemia" "A leukemia characterized by the absence of leukemic cells in the peripheral blood." "" + "central nervous system leukemia" "Leukemia infiltrating the central nervous system structures." "" + "central nervous system hematopoietic neoplasm" "A primary or metastatic neoplasm of hematopoietic origin that affects the brain, meninges, or spinal cord. Representative examples include Hodgkin and non-Hodgkin lymphomas, histiocytic tumors, and leukemias." "" + "intrapelvic lymph node leukemic reticuloendotheliosis" "" + "hairy cell leukemia" "Hairy cell leukemia (HCL) is a rare type of leukemia in which abnormal B-lymphocytes are present in the bone marrow, spleen and peripheral blood. It is a slowly progressive chronic lymphocytic leukemia (CLL). The name comes from the abnormally shaped lymphocytes with hair-like projections." "" + "vagus nerve neoplasm" "A neoplasm involving a vagus nerve." "" + "glossopharyngeal nerve neoplasm" "A neoplasm involving a glossopharyngeal nerve." "" + "leukopenia" "A laboratory test result indicating a decreased number of white blood cells in the peripheral blood." "" + "acute dacryocystitis" "Acute form of dacryocystitis." "" + "dacryocystitis" "Inflammation of the lacrimal sac." "" + "phlegmonous dacryocystitis" "" + "carotid stenosis" "A narrowing of the carotid artery lumen. It is usually caused by the formation of an atherosclerotic plaque. Symptoms are usually present when there is severe narrowing or obstruction of the arterial lumen and manifest as ischemic cerebrovascular accidents." "" + "carotid artery disease" "A disease involving the carotid artery segment." "" + "vertebrobasilar insufficiency" "Localized or diffuse reduction in blood flow through the vertebrobasilar arterial system, which supplies the brain stem; cerebellum; occipital lobe; medial temporal lobe; and thalamus. Characteristic clinical features include syncope; lightheadedness; visual disturbances; and vertigo. brain stem infarctions or other brain infarction may be associated." "" + "brain ischemia" "Diminished or absent blood supply to the brain caused by obstruction (thrombosis or embolism) of an artery resulting in neurologic damage." "" + "transient ischemic attack" "A brief attack (from a few minutes to an hour) of cerebral dysfunction of vascular origin, with no persistent neurological deficit." "" + "intra-abdominal lymph node mast cell malignancy" "" + "epidemic keratoconjunctivitis" "Keratoconjunctivitis resulting from infection by adenoviruses." "" + "adenoviridae infectious disease" "An infectious process caused by adenovirus. The virus may cause respiratory illness, conjunctivitis, gastroenteritis, and cystitis." "" + "viral conjunctivitis" "Conjunctivitis resulting from viral infection." "" + "lobomycosis" "A chronic, fungal, subcutaneous infection endemic in rural regions in South America and Central America. The causal organism is Lacazia labol." "" + "dermatomycosis" "Superficial infections of the skin or its appendages by any of various fungi." "" + "transient global amnesia" "A condition characterized by sudden, temporary, usually short-lived memory loss, not associated with a neurologic disorder. Affected individuals lose memory function for recent events and have a decreased ability to retain new information. It is usually a solitary event." "" + "balanoposthitis" "" + "balanitis" "An infectious or non-infectious inflammatory process that affects the glans penis. Symptoms include redness and pain of the glans penis and foreskin and discharge." "" + "posthitis" "An inflammatory disease involving a pathogenic inflammatory response in the prepuce of penis." "" + "obsolete relapsing fever" "" "true" + "louse-borne relapsing fever" "An infection that is caused by certain species of Rickettsia or Borrelia, which are transmitted to humans from infected lice; it is characterized by sudden fever, chills, headaches, myalgia, arthralgia, nausea, and possibly a rash. Symptoms usually persist for two to nine days, then disappear, with recurrence after several weeks if the patient remains untreated." "" + "relapsing fever" "Relapsing fever is an infection caused by bacteria of the genus Borrelia, excluding those responsible for Lyme disease belonging to the Borrelia burgdorferi complex." "" + "tick-borne relapsing fever" "An infection that is caused by certain species of Rickettsia or Borrelia, which are transmitted to humans from infected ticks; it is characterized by sudden fever, chills, headaches, myalgia, arthralgia, nausea, and possibly a rash. Symptoms usually persist for two to nine days, then disappear, with recurrence after several weeks if the patient remains untreated." "" + "Rickettsiosis" "A group of infectious diseases that is caused by Rickettsia." "" + "mechanical lagophthalmos" "" + "cicatricial lagophthalmos" "" + "acute sphenoidal sinusitis" "Acute form of sphenoid sinusitis." "" + "corpus luteum cyst" "A ovarian cyst (disease) that involves the corpus luteum." "" + "ovarian cyst" "" + "traumatic glaucoma" "" + "dementia" "Loss of intellectual abilities interfering with an individual's social and occupational functions. Causes include Alzheimer's disease, brain injuries, brain tumors, and vascular disorders." "" + "tinea unguium" "A fungal infection of the nail, usually caused by dermatophytes; yeasts; or nondermatophyte molds." "" + "nail infection" "An infectious process affecting the nail." "" + "Jaccoud syndrome" "" + "branch retinal artery occlusion" "An occlusion of a branch of the retinal artery." "" + "retinal artery occlusion" "An occlusion of the retinal artery." "" + "vertebral artery insufficiency" "A syndrome which occurs as a result of the occlusion of one of the vertebral arteries. It may be caused by atherosclerosis, embolism or hemorrhage. Collateral circulation through the circle of Willis is usually comprised as well. Clinical signs may include vertigo, nystagmus, dysarthria, ataxia and sensorimotor deficits. Clinical course may lead to persistence of neurologic deficits. Prognosis is variable with a substantial risk for recurrent infarction." "" + "intracranial arteriosclerosis" "Vascular diseases characterized by thickening and hardening of the walls of arteries inside the skull. There are three subtypes: (1) atherosclerosis with fatty deposits in the arterial intima; (2) Monckeberg's sclerosis with calcium deposits in the media and (3) arteriolosclerosis involving the small caliber arteries. Clinical signs include headache; confusion; transient blindness (amaurosis fugax); speech impairment; and hemiparesis." "" + "arteriosclerosis disorder" "A vascular disorder characterized by thickening and hardening of the walls of the arteries." "" + "central retinal artery occlusion" "Blockage of the central retinal artery." "" + "bladder leiomyoma" "A well-circumscribed benign smooth muscle neoplasm arising from the bladder. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern." "" + "bladder squamous papilloma" "A rare, benign neoplasm of bladder that is composed of papillary cores with overlying histologically benign squamous epithelium." "" + "mechanical entropion" "" + "cicatricial entropion" "" + "protein-deficiency anemia" "" + "deficiency anemia" "" + "gonococcal spondylitis" "An spondylitis caused by infection with Neisseria gonorrhoeae." "" + "severe pre-eclampsia" "Preeclampsia with a systolic blood pressure of 160 mmHg or higher, or a diastolic blood pressure of 110 mmHg or higher on two occasions at least 4 hours apart while on bedrest. It is associated with thrombocytopenia (platelets less than 100,000 per microliter), impaired liver function (twice normal elevation of hepatic transaminases; severe, persistent right upper quadrant or epigastric pain), progressive renal insufficiency (serum creatinine greater than 1.1 mg/dL or doubling of baseline in the absence of other renal disease), pulmonary edema, or new-onset cerebral or visual disturbances." "" + "hordeolum externum" "A hordeolum that results from obstruction and infection of an eyelash follicle and adjacent glands of Zeis or Moll glands. Follicle obstruction may be associated with blepharitis." "" + "hordeolum" "An acute, localized swelling of the eyelid that may be external or internal and usually is a pyogenic (typically staphylococcal) infection or abscess." "" + "blepharitis" "Inflammation of the eyelids near the eyelashes." "" + "exophthalmic ophthalmoplegia" "" + "facial paralysis" "Severe or complete loss of facial muscle motor function. This condition may result from central or peripheral lesions. Damage to CNS motor pathways from the cerebral cortex to the facial nuclei in the pons leads to facial weakness that generally spares the forehead muscles. facial nerve diseases generally results in generalized hemifacial weakness. neuromuscular junction diseases and muscular diseases may also cause facial paralysis or paresis." "" + "ophthalmoplegia" "Weakness or paralysis of at least one of the muscles controlling the movement of the eye. It results from degeneration of the muscles or the neural pathways involved in the eye movement. Representative disorders causing ophthalmoplegia include ocular myopathies and multiple sclerosis." "" + "acute proliferative glomerulonephritis" "Inflammation of the glomeruli status post infection with nephritogenic streptococci, most often group A beta hemolytic streptococcus." "" + "proliferative glomerulonephritis" "A constellation of renal disorders characterized by an increase number of cells in the glomerulus; these disorders generally present with nephrotic syndrome, and generally progress to end stage renal failure over a matter of weeks to years, depending on the etiology. Examples include IgA nephropathy, membranoproliferative glomerulonephritis, and rapidly progressive glomerulonephritis." "" + "crescentic glomerulonephritis" "A histopathologic term for a pattern of diseases characterized by extensive crescent formation in the glomeruli; patients present clinically with rapid deterioration of renal function, and possible progression to end-stage renal failure within weeks or months." "" + "benign secondary hypertension" "Mild to moderate high blood pressure that is caused by an underlying medical condition." "" + "benign renovascular hypertension" "" + "esophageal candidiasis" "Esophagitis resulting from Candida." "" + "fungal esophagitis" "Infection of the esophagus caused by fungi, most often candida albicans and candida tropicalis. It usually affects patients with immunodeficiency disorders or diabetes mellitus. Symptoms include dysphagia and pain on swallowing." "" + "acute cystitis" "An acute infection of the bladder. It is usually caused by bacteria. Signs and symptoms include increased frequency of urination, pain or burning during urination, fever, cloudy or bloody urine, and suprapubic pain." "" + "bacterial urinary tract infection" "A bacterial infectious process affecting any part of the urinary tract, most commonly the bladder and the urethra. Symptoms include urinary urgency and frequency, burning sensation during urination, lower abdominal discomfort, and cloudy urine." "" + "scrotum squamous cell carcinoma" "A rare squamous cell carcinoma that arises from the scrotum. It has been associated with exposure to environmental and industrial carcinogens. The prognosis depends on the extent of lymph node involvement." "" + "scrotal carcinoma" "A carcinoma that arises from epithelial cells of the scrotum." "" + "scrotum melanoma" "A melanoma (disease) that involves the scrotum." "" + "scrotum neoplasm" "A benign or malignant neoplasm that affects the scrotum." "" + "prepuce cancer" "A malignant neoplasm involving the prepuce." "" + "spermatic cord cancer" "A malignant neoplasm involving the spermatic cord." "" + "dissociated nystagmus" "" + "megaesophagus" "An abnormal dilation of the esophagus not due to obstruction." "" + "nontoxic goiter" "Sporadic enlargement of the thyroid gland that is not associated with changes in thyroid function or malignancy." "" + "" "true" + "prostate neoplasm" "A neoplasm (disease) that involves the prostate gland." "" + "proliferative diabetic retinopathy" "Advanced retinopathy due to diabetes mellitus characterized by the formation of new vessels in the retina. The new vessels are abnormal and fragile. If hemorrhage occurs due to the vascular fragility, there is increased risk of vision loss or blindness." "" + "background diabetic retinopathy" "An early stage of diabetic retinopathy that is characterized by retinal hemorrhage and exudate, but without proliferation of the blood vessels." "" + "obsolete right bundle branch block" "" "true" + "hole retinal cyst" "" + "degeneration of macula and posterior pole" "" + "submucous uterine fibroid" "" + "uterine corpus leiomyoma" "A benign smooth muscle neoplasm arising from the body of the uterus. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern." "" + "oculoglandular tularemia" "A tularemia that results in inflammation of eye and swelling of lymph glands in front of the ear." "" + "retinal dystrophies primarily involving Bruch's membrane" "A retinal dystrophy with etiology arising from Bruch's membrane, the site of drusen generation." "" + "inherited retinal dystrophy" "An instance of retinal degeneration that is caused by an inherited modification of the individual's genome." "" + "streptobacillus infectious disease" "" + "gram-negative bacterial infections" "Infections caused by bacteria that show up as pink (negative) when treated by the gram-staining method." "" + "internal pathological resorption of tooth" "" + "tooth resorption" "Resorption of calcified dental tissue, involving demineralization due to reversal of the cation exchange and lacunar resorption by osteoclasts. There are two types: external (as a result of tooth pathology) and internal (apparently initiated by a peculiar inflammatory hyperplasia of the pulp). (From Jablonski, Dictionary of Dentistry, 1992, p676)" "" + "obsolete lung cancer" "" "true" + "tooth hard tissue disease" "" + "mucocele of appendix" "Accumulation of mucus within the appendix." "" + "bronchus cancer" "A malignant neoplasm involving the bronchus" "" + "diverticulitis of colon" "Inflammation of the colonic diverticula, generally with abscess formation and subsequent perforation." "" + "obsolete porphyria" "" "true" + "erythropoietic protoporphyria" "A rare congenital metabolic disorder characterized by an inborn error of porphyrin-heme biosynthesis. Signs and symptoms include painful cutaneous photosensitivity leading to blistering and scarring of the exposed skin areas, erythrodontia, red discoloration of urine, hemolytic anemia, and splenomegaly." "" + "hepatic porphyria" "A group of metabolic diseases due to deficiency of one of a number of liver enzymes in the biosynthetic pathway of heme. They are characterized by the accumulation and increased excretion of porphyrins or its precursors. Clinical features include neurological symptoms (porphyria, acute intermittent), cutaneous lesions due to photosensitivity (porphyria cutanea tarda), or both (hereditary coproporphyria). Hepatic porphyrias can be hereditary or acquired as a result of toxicity to the hepatic tissues." "" + "inherited porphyria" "Porphyrias constitute a group of eight hereditary metabolic diseases characterized by intermittent neuro-visceral manifestations, cutaneous lesions or by the combination of both." "" + "obsolete Rift valley fever" "" "true" + "intestinal tuberculosis" "A tuberculosis that involves the intestine." "" + "gastrointestinal tuberculosis" "Tuberculosis that involves any region of the gastrointestinal tract, mostly in the distal ileum and the cecum. In most cases, mycobacterium tuberculosis is the pathogen. Clinical features include abdominal pain; fever; and palpable mass in the ileocecal area." "" + "obsolete crater-like holes of optic disc" "" "true" + "vaginal mullerian papilloma" "A benign papilloma that arises from the vagina in infants and young women." "" + "vaginal glandular neoplasm" "A benign or malignant neoplasm that arises from the vagina and is characterized by the presence of neoplastic glandular epithelial cells. Representative examples include adenoma, endometrioid adenocarcinoma, and clear cell adenocarcinoma." "" + "papilloma" "A benign epithelial neoplasm that projects above the surrounding epithelial surface and consists of villous or arborescent outgrowths of fibrovascular stroma." "" + "glandular papilloma" "" + "diphtheritic cystitis" "A cystits which involves inflammation and formation of a dense fibrous false membrane on the mucous membrane of the bladder." "" + "diphtheritic peritonitis" "A peritonitis which involves inflammation of peritoneal cavity by Corynebacterium diphtheriae." "" + "peritonitis" "Inflammation of the peritoneum due to infection by bacteria or fungi. Causes include liver disease, perforation of the gastrointestinal tract or biliary tract, and peritoneal dialysis. Patients usually present with abdominal pain and tenderness, fever, chills, and nausea and vomiting. It is an emergency medical condition that requires prompt medical attention and treatment." "" + "pancreatic mucinous ductal ectasia" "" + "exocrine pancreatic insufficiency" "Inability of the exocrine pancreas to produce and secrete an adequate amount of digestive enzymes into the small intestine. Patients present with symptoms of malabsorption syndrome, abdominal discomfort, and bloating. Causes include chronic pancreatitis, cystic fibrosis, and autoimmune disorders." "" + "chronic follicular conjunctivitis" "" + "chronic conjunctivitis" "Conjunctivitis that is persistent and long-standing." "" + "anatomical narrow angle borderline glaucoma" "" + "borderline glaucoma" "" + "diabetic cataract" "" + "toxic optic neuropathy" "" + "hypertrophy of tongue papillae" "" + "parasitic conjunctivitis" "" + "laryngeal cartilage cancer" "A malignant neoplasm involving the laryngeal cartilage." "" + "pedophilia" "A disorder characterized by recurrent sexual urges, fantasies, or behaviors involving sexual activity with a prepubescent child or children." "" + "ego-dystonic sexual orientation" "A gender identity disorder that is characterized by having a sexual orientation or an attraction that is at odds with one's idealized self-image, causing anxiety and a desire to change one's orientation or become more comfortable with one's sexual orientation." "" + "diffuse interstitial keratitis" "" + "interstitial keratitis" "" + "senile ectropion" "" + "obsolete Ehlers-Danlos syndrome" "" "true" + "reading disorder" "A learning disability involving difficulty reading resulting primarily from neurological factors which affect any part of the reading process." "" + "tinea profunda" "A dermatophytosis that involves the deep dermal layers." "" + "tinea manuum" "A dermatophytosis that involves the hands." "" + "hand disease" "A disease or disorder that involves the manus." "" + "megaloblastic anemia" "Anemia characterized by the presence of unusually large erythroblasts in the bone marrow called megaloblasts. It is usually caused by vitamin B12 or folic acid deficiency. Other causes include toxins and drugs." "" + "macrocytic anemia" "Anemia that is characterized by increased red blood cell volume." "" + "labia majora carcinoma" "A carcinoma that arises from the labia majora." "" + "pure red-cell aplasia" "A disease characterized by normocytic, normochromic anemia, low hematocrit, reticulocytopenia, and selective erythroid hypoplasia." "" + "idiopathic aplastic anemia" "Aplastic anemia without a known cause." "" + "cerebral sarcoidosis" "Sarcoidosis of the cerebrum." "" + "sarcoidosis" "Sarcoidosis is a multisystemic disorder of unknown cause characterized by the formation of immune granulomas in involved organs." "" + "cardiac sarcoidosis" "Sarcoidosis affecting the tissues of the heart." "" + "non-familial restrictive cardiomyopathy" "" + "pulmonary sarcoidosis" "Sarcoidosis affecting the lung parenchyma. It is characterized by the presence of non-necrotizing granulomas in the lung tissues. It is manifested with dyspnea, cough, fever, night sweats, fatigue, and weight loss." "" + "secondary interstitial lung disease specific to adulthood associated with a systemic disease" "True" + "hypercalcemic sarcoidosis" "Sarcoidosis with a complication of hypercalcemia." "" + "perforation of bile duct" "A rupture in the wall of the extrahepatic or intrahepatic bile duct due to traumatic or pathologic processes." "" + "bile duct disease" "A disease involving the bile duct." "" + "alexia" "A receptive visual aphasia characterized by the loss of a previously possessed ability to comprehend the meaning or significance of handwritten words, despite intact vision. This condition may be associated with posterior cerebral artery infarction (infarction, posterior cerebral artery) and other brain diseases." "" + "inherited aplastic anemia" "An inborn condition characterized by deficiencies of red cell precursors that sometimes also includes leukopenia and thrombocytopenia." "" + "aplastic anemia" "Anemia resulting from bone marrow failure (aplastic or hypoplastic bone marrow). The production of erythroblasts and red cells is markedly decreased, and it may be associated with decreased production of granulocytes (granulocytopenia) and platelets (thrombocytopenia) as well. Aplastic anemia may be idiopathic or secondary due to bone marrow damage by toxins, radiation, or immunologic factors." "" + "bejel" "A chronic skin and tissue disease caused by infection by the endemicum subspecies of the spirochete Treponema pallidum." "" + "syphilis" "A contagious bacterial infection caused by the spirochete Treponema pallidum. It is a sexually transmitted disorder, although it can also be transmitted from the mother to the fetus in utero. Typically, it is initially manifested with a single sore which heals without treatment. If the infection is left untreated, the initial stage is followed by skin rash and mucous membrane lesions. A late stage follows, which is characterized by damage of the internal organs, including the nervous system." "" + "basilar artery occlusion" "" + "head disease" "A disease involving the head." "" + "corneal argyrosis" "" + "posterior corneal pigmentation" "" + "scleritis" "Inflammation of the sclera." "" + "gonococcal bursitis" "An bursitis caused by infection with Neisseria gonorrhoeae." "" + "gonococcal synovitis" "An synovitis (disease) caused by infection with Neisseria gonorrhoeae." "" + "synovitis" "Inflammation of a synovial membrane." "" + "gonococcal infection of joint" "" + "urethral intrinsic sphincter deficiency" "" + "muscular disease" "Acquired, familial, and congenital disorders of skeletal muscle and smooth muscle." "" + "central pterygium" "" + "progressive peripheral pterygium" "" + "supraglottis cancer" "A malignant neoplasm that affects the supraglottic area of the larynx. The vast majority of cases are squamous cell carcinomas." "" + "supraglottis neoplasm" "A benign or malignant neoplasm that affects the supraglottic area of the larynx." "" + "balanitis xerotica obliterans" "A chronic and progressive inflammatory process that affects the glans penis and the foreskin. It presents with white atrophic patches in the glans of penis and foreskin and it is often associated with the development of a sclerotic, whitish ring in the tip of the foreskin that may lead to phimosis. It is also known as lichen sclerosus of the penis." "" + "childhood disintegrative disease" "A pediatric disorder characterized by normal development for at least the first two years of life followed by a severe regression in language, social interaction, bowel or bladder control, and/or motor skills. The affected individual may also exhibit repetitive and stereotyped patterns of behavior similar to autism." "" + "active cochleovestibular Meniere disease" "" + "Meniere disease" "A disease of the inner ear (labyrinth) that is characterized by fluctuating sensorineural hearing loss; tinnitus; episodic vertigo; and aural fullness. It is the most common form of endolymphatic hydrops." "" + "active vestibular Meniere disease" "" + "active cochlear Meniere disease" "" + "urethral syndrome" "" + "benign vaginal mixed epithelial and mesenchymal neoplasm" "A non-metastasizing neoplasm that arises from the vagina and is characterized by the presence of benign epithelial and benign mesenchymal elements." "" + "trigonitis" "Inflammation of the trigone of the urinary bladder." "" + "occlusion of tributary of retinal vein" "" + "central retinal vein occlusion" "Blockage of the central retinal vein." "" + "tuberous sclerosis" "Hereditary disease characterized by seizures, mental retardation, developmental delay, and skin and ocular lesions. First signs usually occur during infancy or childhood but in rare cases may not occur until 2nd or 3rd decade." "" + "hereditary neoplastic syndrome" "The inherited predisposition toward getting a tumor." "" + "neurocutaneous syndrome" "A group of disorders characterized by ectodermal-based malformations and neoplastic growths in the skin, nervous system, and other organs." "" + "hamartoma" "A benign and excessive tumor-like growth of mature cells and normal tissues which grow in a disorganized pattern." "" + "paranasal sinus disease" "A disease involving the paranasal sinus." "" + "nasal disorder" "A disease involving the nose." "" + "neonatal infective mastitis" "" + "mastitis" "Inflammation of breast tissue during lactation or postpartum due to an obstructed duct or infection. Mastitis can also occur in non-breastfeeding women, and rarely in men." "" + "tetanus neonatorum" "A syndrome of generalized rigidity with muscle spasms and seizures in the neonatal period resulting from Clostridium tetani toxin production." "" + "tetanus" "A serious infectious disorder that follows wound contamination by the Gram-positive bacterium Clostridium tetani. The bacteria produce a neurotoxin called tetanospasmin, which causes muscle spasm in the jaw and other anatomic sites." "" + "obsolete osteopetrosis" "" "true" + "purulent labyrinthitis" "A labyrinthitis which is a bacterial infectious disease of the inner ear, often causing deafness and loss of vestibular function. This is caused when bacteria spread to the inner ear during the course of severe acute otitis media, purulent meningitis, or an enlarging cholesteatoma." "" + "cornea squamous cell carcinoma" "A rare squamous cell carcinoma that arises from the cornea." "" + "eye carcinoma" "A carcinoma that arises from epithelial cells of the eye" "" + "cornea cancer" "A malignant neoplasm involving the cornea." "" + "hyperparathyroidism" "Hyperfunction of the parathyroid glands resulting in the overproduction of parathyroid hormone. It may be primary or secondary; primary hyperparathyroidism is caused by parathyroid adenoma, parathyroid hyperplasia, parathyroid carcinoma, and multiple endocrine neoplasia. It is associated with hypercalcemia and hypophosphatemia. Signs and symptoms include weakness, fatigue, nausea, vomiting, constipation, depression, bone pain, osteoporosis, cystic bone lesions, and kidney stones. Secondary hyperparathyroidism is caused by the chronic stimulation of the parathyroid glands in patients with chronic renal failure, rickets, and malabsorption syndromes." "" + "interval angle-closure glaucoma" "" + "primary angle-closure glaucoma" "An angle-closure glaucoma characterized by closure of the anterior chamber angle by an intrinsic defect such that aqueous outflow is blocked and the intraocular pressure becomes inappropriately elevated leading to optic nerve damage and visual field loss. Primary angle-closure glaucoma has symptom progressive peripheral vision loss, decreased vision, and pain, redness, and headache in acute cases. Primary angle closure glaucoma can be caused by anatomically narrow angle, defects in the trabecular meshwork, and iris abnormalities. Primary angle-closure glaucoma has a strong genetic component." "" + "paranasal sinus lymphoma" "A lymphoma that arises from the paranasal sinus. Representative examples include diffuse large B-cell lymphoma and extranodal NK/T-cell lymphoma, nasal type." "" + "angle-closure glaucoma" "The sudden increase of intraocular pressure, resulting in pain and an abrupt decrease in visual acuity." "" + "subserous uterine fibroid" "" + "optic disk drusen" "Optic disk bodies composed primarily of acid mucopolysaccharides that may produce pseudopapilledema (elevation of the optic disk without associated intracranial hypertension) and visual field deficits. Drusen may also occur in the retina (see retinal drusen). (Miller et al., Clinical Neuro-Ophthalmology, 4th ed, p355)" "" + "optic nerve disease" "A non-neoplastic or neoplastic disorder affecting the optic nerve (second cranial nerve)." "" + "tibial collateral ligament bursitis" "" + "maxillary sinus carcinoma" "A carcinoma that arises from the maxillary sinus. Representative examples include squamous cell carcinoma, adenocarcinoma, and adenoid cystic carcinoma." "" + "jaw cancer" "A malignant neoplasm involving the jaw skeleton" "" + "digestive system carcinoma" "A malignant neoplasm that arises from the epithelium of any part of the digestive system. Representative examples include colorectal carcinoma, esophageal carcinoma, and pancreatic carcinoma." "" + "maxillary sinus neoplasm" "A benign or malignant neoplasm that affects the maxillary sinus. Representative examples of benign neoplasms include Schneiderian papilloma and salivary gland-type adenoma. Representative examples of malignant neoplasms include carcinoma and lymphoma." "" + "cortical senile cataract" "A senile cataract that involves the lens cortex." "" + "cortical cataract" "A cataract (disease) that involves the lens cortex." "" + "cholestasis" "Impairment of the bile flow caused by obstruction within the liver, or outside the liver in the bile duct system." "" + "alveolar periostitis" "A condition sometimes occurring after tooth extraction, particularly after traumatic extraction, resulting in a dry appearance of the exposed bone in the socket, due to disintegration or loss of the blood clot. It is basically a focal osteomyelitis without suppuration and is accompanied by severe pain (alveolalgia) and foul odor. (Dorland, 28th ed)" "" + "disease of facial skeleton" "A disease that involves the facial skeleton." "" + "female infertility of uterine origin" "" + "eclampsia" "A potentially life-threatening pregnancy-related disorder characterized by tonic-clonic seizures in association with hypertension after the twentieth week of gestation and up to six weeks postpartum and in the absence of other potential causes of seizures." "" + "toxemia of pregnancy" "A pregnancy induced hypertensive state that occurs after 20 weeks of gestation characterized by an increase in blood pressure, along with body swelling and proteinuria." "" + "obsolete vaginal carcinosarcoma" "" "true" + "frontal sinus cancer" "A malignant neoplasm involving the frontal sinus." "" + "frontal sinus neoplasm" "A benign or malignant neoplasm that affects the frontal sinus. Representative examples of benign neoplasms include Schneiderian papilloma and salivary gland-type adenoma. Representative examples of malignant neoplasms include carcinoma and lymphoma." "" + "paranasal sinus neoplasm" "A benign or malignant neoplasm that affects the paranasal sinuses. Representative examples of benign neoplasms include Schneiderian papilloma and salivary gland-type adenoma. Representative examples of malignant neoplasms include carcinoma and lymphoma." "" + "paranasal sinus sarcoma" "A malignant soft tissue neoplasm that arises from the paranasal sinus." "" + "obsolete patent foramen ovale" "" "true" + "photokeratitis" "Injury to the cornea secondary to ultraviolet light." "" + "radiation-induced disorder" "A non-neoplastic or neoplastic disorder which results from exposure to radiation. Examples of non-neoplastic disorders include dermatitis, enteritis, stomatitis, pneumonitis, and cerebritis. Examples of neoplastic disorders include myelodysplastic syndromes, leukemias, and sarcomas." "" + "favism" "A condition associated with glucose-6-phosphate dehydrogenase deficiency, which is characterized by hemolysis." "" + "G6PD deficiency" "An X-linked recessive inherited disorder caused by mutations in the G6PD gene. It is characterized by the absence or presence of very low levels of glucose-6-phosphate dehydrogenase. Patients develop hemolytic anemia usually in response to infection or exposure to drugs." "" + "dentine erosion" "A tooth erosion, non-bacterial that involves the dentine." "" + "tooth erosion, non-bacterial" "Progressive loss of tooth tissue by chemical processes that do not involve bacterial action. (Jablonski, Dictionary of Dentistry, 1992, p296)" "" + "ethmoid sinus cancer" "A malignant neoplasm involving the ethmoid sinus." "" + "ethmoidal sinus neoplasm" "A benign or malignant neoplasm that affects the ethmoid sinus. Representative examples of benign neoplasms include Schneiderian papilloma and salivary gland-type adenoma. Representative examples of malignant neoplasms include carcinoma and lymphoma." "" + "polyneuropathy in collagen vascular disease" "" + "eversion of lacrimal punctum" "" + "stenosis of lacrimal punctum" "" + "stenosis of lacrimal passage" "" + "acquired tear duct stenosis" "" + "nasolacrimal duct disease" "A disease or disorder that involves the nasolacrimal duct." "" + "gastrin secretion abnormality" "" + "endocrine pancreas disease" "A disease involving the endocrine pancreas." "" + "infective urethral stricture" "" + "urethral stricture" "Narrowing of any part of the urethra. It is characterized by decreased urinary stream and often other obstructive voiding symptoms." "" + "ulcer of anus and rectum" "" + "post-vaccinal encephalitis" "An acute or subacute inflammatory process of the central nervous system characterized histologically by multiple foci of perivascular demyelination. Symptom onset usually occurs several days after an acute viral infection or immunization, but it may coincide with the onset of infection or rarely no antecedent event can be identified. Clinical manifestations include confusion, somnolence, fever, nuchal rigidity, and involuntary movements. The illness may progress to coma and eventually be fatal. (Adams et al., Principles of Neurology, 6th ed, p921)" "" + "posterior scleritis" "" + "chronic duodenal ileus" "" + "duodenal obstruction" "Blockage of the normal flow of stomach contents through the duodenum." "" + "prostate calculus" "A concretion in the prostate." "" + "lower urinary tract calculus" "A urolithiasis that involves the lower urinary tract." "" + "acute gonococcal cystitis" "Acute form of gonococcal cystitis." "" + "gonococcal cystitis" "An cystitis caused by infection with Neisseria gonorrhoeae." "" + "dermoid cyst of skin" "A benign hamartomatous tumor that possesses various epidermal derivatives and is due to sequestration of skin along the lines of embryonic closure." "" + "dermoid cyst" "A mature teratoma characterized by the presence of a cyst which is lined by mature tissue resembling the epidermis and the epidermal appendages. It occurs in the ovary, testis, and extragonadal sites including central nervous system and skin." "" + "skin neoplasm" "A benign or malignant tumor involving the skin. Representative examples of benign skin neoplasms include the benign melanocytic skin nevus, acanthoma, sebaceous adenoma, sweat gland adenoma, lipoma, hemangioma, fibroma, and benign fibrous histiocytoma. Representative examples of malignant skin neoplasms include basal cell carcinoma, squamous cell carcinoma, melanoma, and Kaposi sarcoma." "" + "vaginal squamous papilloma" "A benign papillary neoplasm that arises from the vagina and is characterized by the presence of a fibrovascular stalk lined by normal squamous epithelium. There is no evidence of atypia or relation to human papillomavirus." "" + "vaginal squamous tumor" "A benign or malignant neoplasm that arises from the squamous epithelium of the vagina. Representative examples include condyloma acuminatum, squamous papilloma, and squamous cell carcinoma." "" + "premature ejaculation" "A disorder characterized by persistent or recurrent ejaculation before or after penetration and before the person wishes it." "" + "uterine corpus adenomatoid tumor" "A benign mesothelial tumor of the serosal surface of the uterine body and myometrium. It is characterized by the presence of gland-like structures." "" + "adenomatoid tumor" "A benign neoplasm arising from mesothelial cells. It is characterized by the formation of glandular and tubular patterns. It can occur in several anatomic sites including the pleura, peritoneum, and epididymis." "" + "benign mesothelioma" "A benign proliferative neoplasm made up of epithelial and mesenchymal cells of the mesothelium which make up part of the serosal covering and lining of various organ surfaces within the body." "" + "benign neoplasm of corpus uteri" "A benign neoplasm that involves the body of uterus." "" + "mature cataract" "A cataract that produces swelling and opacity of the entire lens; cataracts are removed before maturity." "" + "endometrial stromal nodule" "A non-infiltrating, benign mesenchymal neoplasm arising from the uterine corpus. It is characterized by the presence of neoplastic cells that resemble the cells of the proliferative phase of endometrial stroma and numerous thin-walled small vessels. It usually presents with abnormal uterine bleeding and menorrhagia." "" + "mixed endometrial stromal and smooth muscle tumor" "A benign or malignant mesenchymal neoplasm of the uterine corpus. Representative examples include leiomyoma, leiomyosarcoma, and endometrial stromal sarcoma." "" + "malignant renovascular hypertension" "" + "malignant secondary hypertension" "" + "uterine inflammatory disease" "" + "hepatic infarction" "" + "nutmeg liver" "" + "neurofibroma of spinal cord" "A neurofibroma that arises from the spinal cord." "" + "spinal cord lipoma" "A benign adipose tissue neoplasm of the spinal cord. It is usually associated with dysraphism in which the intraspinal component communicates with a subcutaneous lipoma through a defect in the posterior elements of the spine. Non-dysraphic intramedullary spinal cord lipomas are very rare." "" + "central nervous system lipoma" "A rare benign adipose tissue neoplasm of the central nervous system frequently found in midline locations such as the corpus callosum, the quadrigeminal plate, the hypothalamus, the spinal canal or the cauda equina. Some contain Schwann cells, bone, cartilage or hamartomatous blood vessels." "" + "benign neoplasm of spinal cord" "A benign neoplasm that involves the spinal cord." "" + "neonatal urinary tract infectious disease" "" + "epiphora due to insufficient drainage" "" + "excessive tearing" "Diseases of the lacrimal apparatus." "" + "Pthirus pubis infestation" "Infestation of the pubic hair by the pthirus pubis parasite which results in mild to intense itching and macular lesions. The parasite, also known as crab lice, is transmitted through skin to skin contact with an infected person or through direct contact with infested objects." "" + "lice infestation" "A contagious infestation of parasitic insects found on the head (Pediculus humanus capitis), body (Pediculus humanus corporis), or pubic area (Pthirus pubis) that typically cause itching and rash." "" + "plantar wart" "A wart in the plantar surface of the foot. It is caused by human papillomavirus." "" + "foot disease" "A disease or disorder that involves the pes." "" + "primary viral infectious disease" "The initial viral infectious disase that causes illness." "" + "obsolete epidermodysplasia verruciformis" "" "true" + "chancroid" "Chancroid is a bacterial infection that is spread through sexual contact. It is caused by a type of bacteria called Haemophilus ducreyi. Chancroid is characterized by a small bump on the genital which becomes a painful ulcer. Men may have just one ulcer, but women often develop four or more.About half of the people who are infected with a chancroid will develop enlarged inguinal lymph nodes, the nodes located in the fold between the leg and the lower abdomen. In some cases, the nodes will break through the skin and cause draining abscesses. The swollen lymph nodes and abscesses are often called buboes. Chancroid infections can be treated with antibiotics, including azithromycin, ceftriaxone, ciprofloxacin, and erythromycin. Large lymph node swellings need to be drained, either with a needle or local surgery." "" + "bacterial sexually transmitted disease" "Bacterial diseases that are potentially transmitted or propagated by sexual conduct." "" + "hypermobility syndrome" "" + "localized anterior staphyloma" "" + "equatorial staphyloma" "" + "staphyloma posticum" "" + "acute tympanitis" "" + "myringitis bullosa hemorrhagica" "A tympanic membrane disease that is characterized by blisters on the eardrum resulting from infection." "" + "anterior scleritis" "" + "female breast central part cancer" "" + "squamous cell neoplasm" "A neoplasm that is composed of squamous epithelial cells. Squamous cell carcinoma is a representative example." "" + "obsolete familial combined hyperlipidemia" "A type of familial lipid metabolism disorder characterized by a variable pattern of elevated plasma cholesterol and/or triglycerides. Multiple genes on different chromosomes may be involved, such as the major late transcription factor (upstream stimulatory factors) on chromosome 1." "" "true" + "chronic subinvolution of uterus" "" + "adhesions of uterus" "" + "hypoglossal nerve disease" "A disease involving the hypoglossal nerve." "" + "tetanic cataract" "A cataract resulting from hypocalcemia." "" + "parasitic eyelid infestation" "" + "parasitic eye infection" "Mild to severe infections of the eye and its adjacent structures (adnexa) by adult or larval protozoan or metazoan parasites." "" + "squamous blepharitis" "" + "obsolete patent ductus arteriosus" "" "true" + "extrapyramidal and movement disease" "" + "scleroperikeratitis" "" + "acute closed-angle glaucoma" "Acute form of angle-closure glaucoma." "" + "facial neuralgia" "Neuralgic syndromes which feature chronic or recurrent facial pain as the primary manifestation of disease. Disorders of the trigeminal and facial nerves are frequently associated with these conditions." "" + "neuralgia" "A pain disorder characterize by pain in the distribution of a nerve or nerves" "" + "facial nerve disease" "A disease involving the facial nerve." "" + "cranial neuralgia" "A neuralgia that involves the cranial neuron projection bundle." "" + "multiple cranial nerve palsy" "" + "focal labyrinthitis" "A labyrinthitis which is an infectious inflammatory disease of a circumscribed area of either the vestibular or the cochlear portion of the labyrinth, or of both together. This is caused by a chronic suppurative otitis media, mastoiditis, or cholesteatoma." "" + "hypoactive sexual desire disorder" "A disorder characterized by a recurrent or persistent lack of desire for sexual activity. The lack of sexual desire is not attributable to another psychiatric disorder or to the physiological effects of substance use or a general medical condition." "" + "hypolipoproteinemia" "Conditions with abnormally low levels of lipoproteins in the blood. This may involve any of the lipoprotein subclasses, including alpha-lipoproteins (high-density lipoproteins); beta-lipoproteins (low-density lipoproteins); and prebeta-lipoproteins (very-low-density lipoproteins)." "" + "sick sinus syndrome" "A constellation of signs and symptoms which may include syncope, fatigue, dizziness, and alternating periods of bradycardia and atrial tachycardia, which is caused by sinoatrial node dysfunction." "" + "obsolete hypobetalipoproteinemia" "" "true" + "white piedra" "A superficial mycosis due to T beigelii that is characterized by a soft, friable, beige nodule of the distal ends of hair shafts." "" + "acquired color blindness" "Non-heritable difficulty in distinguishing colors." "" + "nerve plexus disease" "A disease that involves the nerve plexus." "" + "somatization disorder" "Disorders having the presence of physical symptoms that suggest a general medical condition but that are not fully explained by a another medical condition, by the direct effects of a substance, or by another mental disorder. The symptoms must cause clinically significant distress or impairment in social, occupational, or other areas of functioning. In contrast to factitious disorders and malingering, the physical symptoms are not under voluntary control. (apa, dsm-V)" "" + "irregular astigmatism" "" + "bacterial esophagitis" "An acute bacterial infection that affects the esophagus. Symptoms include severe pain on swallowing and retrosternal pain. Endoscopic examination reveals esophageal mucosal ulcerations and pseudomembranous formations." "" + "lacrimal duct obstruction" "Blockage of the tear duct." "" + "visual pathway disease" "A disorder of the neural pathway from the optic nerve to the visual cortex." "" + "amenorrhea" "The absence of menses in a woman who has achieved reproductive age." "" + "acute gonococcal salpingitis" "Acute form of gonococcal salpingitis." "" + "acute gonococcal prostatitis" "Acute form of gonococcal prostatitis." "" + "gonococcal prostatitis" "An prostatitis (disease) caused by infection with Neisseria gonorrhoeae." "" + "obsolete interstitial cystitis" "" "true" + "obsolete schistosomiasis" "" "true" + "uterine corpus epithelioid leiomyoma" "A morphologic variant of uterine corpus leiomyoma characterized by the presence of round or polygonal epithelioid smooth muscle cells forming clusters." "" + "uterine corpus dissecting leiomyoma" "A rare morphologic variant of uterine corpus leiomyoma. Macroscopically, it is characterized by large, fungating, and multinodular neoplasm masses arising from the uterine corpus, and extending into the broad ligament or the peritoneal cavity. Microscopically, it shows neoplastic smooth muscle cells infiltrating the myometrium. The neoplastic cells are arranged in a micronodular pattern. Hydropic changes and increased vascularity are also present." "" + "uterus interstitial leiomyoma" "" + "uterine corpus myxoid leiomyoma" "A morphologic variant of uterine corpus leiomyoma characterized by extensive myxoid degeneration of the neoplasm connective tissue stroma." "" + "uterine corpus lipoleiomyoma" "A rare morphologic variant of uterine corpus leiomyoma characterized by the presence of scattered islands of mature adipocytes within the smooth muscle neoplasm." "" + "uterine corpus bizarre leiomyoma" "A morphologic variant of uterine corpus leiomyoma characterized by significant cytologic atypia. The atypical cells are large with pleomophic hyperchromatic nuclei." "" + "bizarre leiomyoma" "A morphologic variant of leiomyoma characterized by the presence of pleomorphic muscle cells with bizarre hyperchromatic nuclei and eosinophilic cytoplasm." "" + "nuclear senile cataract" "A senile cataract that involves the lens nucleus." "" + "nuclear cataract" "A cataract (disease) that involves the lens nucleus." "" + "Morgagni cataract" "A form of hypermature cataract formed by liquefaction of the cortex and sinking of the dense nucleus to the bottom of the capsular bag." "" + "hypermature cataract" "" + "female breast lower-outer quadrant cancer" "" + "primary lacrimal atrophy" "" + "small intestine lymphoma" "A non-Hodgkin or Hodgkin lymphoma that arises from the small intestine." "" + "contact blepharoconjunctivitis" "" + "blepharoconjunctivitis" "Inflammation of both the eyelids and the conjunctiva." "" + "rubeosis iridis" "" + "splenic artery aneurysm" "" + "Brucella canis brucellosis" "A brucellosis involving an infection caused by Brucella canis [NCBITaxon:36855] in dogs and humans. The disease has symptom fever, has symptom sweats, has symptom weakness, has symptom weight loss, has symptom headache, has symptom lymphadenopathy and has symptom splenomegaly." "" + "Tietze syndrome" "Idiopathic painful nonsuppurative swellings of one or more costal cartilages, especially of the second rib. The anterior chest pain may mimic that of coronary artery disease." "" + "algoneurodystrophy" "" + "complex regional pain syndrome" "Complex regional pain syndrome (CRPS) is a rare neurologic disease painful progressive condition that corresponds to a group of disorders characterized by a disproportionate spontaneous or stimulus-induced pain, accompanied by a variably mixed myriad of autonomic and motor disorders including symptoms such as swelling, allodynia, skin blood supply and trophic disturbances. CRPS most often affects one of the arms, legs, hands, or feet and usually occurs after an injury or trauma to that limb." "" + "folic acid deficiency anemia" "" + "malignant parietal pleura tumor" "" + "malignant visceral pleura tumor" "" + "aorta atresia" "An aortic disease that is characterized by an absence of an opening from the left ventricle of the heart into the aorta." "" + "residual stage angle-closure glaucoma" "" + "obsolete autoimmune polyendocrinopathy syndrome" "" "true" + "bipolar I disorder" "A bipolar disorder that is characterized by at least one manic or mixed episode." "" + "phaeohyphomycosis" "An opportunistic fungal infection caused by any of a variety of normally saprophytic fungi with hyaline hyphal elements. For example, Fusarium spp. infect neutropenic patients to cause pneumonia, fungemia, and disseminated infection with cutaneous lesions." "" + "alternariosis" "Opportunistic fungal infection by a member of Alternaria genus." "" + "paraurethral gland cancer" "A malignant neoplasm involving the paraurethral gland." "" + "paraurethral gland neoplasm" "A neoplasm (disease) that involves the paraurethral gland." "" + "acute poststreptococcal glomerulonephritis" "Acute post streptococcal glomerulonephritis is an immunologic response of the kidney to infection, characterized by the sudden appearance of edema, hematuria, proteinuria and hypertension. It is essentially a disease of childhood that accounts for approximately 90% of renal disorders in children. The disease occurs especially in children between the ages of 2 and 12 years and young adults, and more often in male than in female." "" + "glomerulonephritis" "A renal disorder characterized by damage in the glomeruli. It may be acute or chronic, focal or diffuse, and it may lead to renal failure. Causes include autoimmune disorders, infections, diabetes, and malignancies." "" + "acute diffuse glomerulonephritis" "An acute inflammation of the glomeruli, in which all glomeruli are affected, resulting in acute renal failure." "" + "diffuse glomerulonephritis" "Inflammation of the glomeruli, in which all glomeruli are affected, resulting in renal failure." "" + "obsolete vestibular nystagmus" "" "true" + "geniculate ganglionitis" "Diseases of the facial nerve or nuclei. Pontine disorders may affect the facial nuclei or nerve fascicle. The nerve may be involved intracranially, along its course through the petrous portion of the temporal bone, or along its extracranial course. Clinical manifestations include facial muscle weakness, loss of taste from the anterior tongue, hyperacusis, and decreased lacrimation." "" + "sensory ganglionopathy" "A disease or disorder that involves the sensory ganglion." "" + "toxic labyrinthitis" "A labyrinthitis induced by alcohol, drug ingestion, or occasionally, inhaled substances that are toxic to the inner ear. Drugs like aminoglycosides, furosemide, ethacrynic acid, acetylsalicyclic acid, amiodarone, quinine, cisplatinum, barbiturates, quinine, anti-Alzheimer's medications, anticonvulsants, antidepressants, and anxiolytics can be ototoxic." "" + "epicondylitis" "Inflammation of the lateral epicondyle." "" + "renal artery atheroma" "A atherosclerosis that involves the renal artery." "" + "renal artery disease" "A disease involving the renal artery." "" + "infertility due to extratesticular cause" "" + "male infertility" "The inability of the male to effect fertilization of an ovum after a specified period of unprotected intercourse. Male sterility is permanent infertility." "" + "acquired hypertrophic pyloric stenosis" "An instance of hypertrophic pyloric stenosis that is acquired during the lifetime of the individual." "" + "anus cancer" "A malignant neoplasm involving the anus" "" + "anus neoplasm" "A benign or malignant neoplasm that affects the anal canal or anal margin. Representative examples of benign neoplasms include squamous papilloma and papillary hidradenoma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and melanoma." "" + "rectal cancer" "A primary or metastatic malignant neoplasm that affects the rectum. Representative examples include carcinoma, lymphoma, and sarcoma." "" + "median rhomboid glossitis" "" + "glossitis" "Inflammation of the tongue." "" + "toxic shock syndrome" "A rare acute life-threatening systemic bacterial noncontagious illness caused by exotoxins from bacteria of either the Streptococcus pyogenes or Staphylococcus aureus type. It is characterized by high fever, hypotension, rash, multi-organ dysfunction, and cutaneous desquamation during the early convalescent period. The toxins affect the host immune system, causing an exuberant and pathological host inflammatory response. Laboratory findings include leukocytosis, elevated prothrombin time, hypoalbuminemia, hypocalcemia, and pyuria." "" + "bacteriuria" "The presence of bacteria in the urine which is normally bacteria-free. These bacteria are from the urinary tract and are not contaminants of the surrounding tissues. Bacteriuria can be symptomatic or asymptomatic. Significant bacteriuria is an indicator of urinary tract infection." "" + "urinary system disease" "A disease involving the renal system." "" + "blue toe syndrome" "A condition that is caused by recurring atheroembolism in the lower extremities. It is characterized by cyanotic discoloration of the toes, usually the first, fourth, and fifth toes. Discoloration may extend to the lateral aspect of the foot. Despite the gangrene-like appearance, blue toes may respond to conservative therapy without amputation." "" + "cholesterol embolism" "Blocking of a blood vessel by cholesterol-rich atheromatous deposits, generally occurring in the flow from a large artery to small arterial branches. It is also called arterial-arterial embolization or atheroembolism which may be spontaneous or iatrogenic. Patients with spontaneous atheroembolism often have painful, cyanotic digits of acute onset." "" + "abducens nerve neoplasm" "A neoplasm involving a abducens nerve." "" + "abducens nerve disease" "A non-neoplastic or neoplastic disorder affecting the abducens nerve (sixth cranial nerve)." "" + "lateral cystocele" "" + "midline cystocele" "" + "Allen-Masters syndrome" "A syndrome characterized by laceration in the posterior leaf of broad ligament along with abnormally mobile cervix." "" + "anus lymphoma" "A usually large cell non-Hodgkin lymphoma of B-cell phenotype, arising from the anus. Lymphomas originating from the anal region are rare in the general population, but they are seen with a higher frequency in HIV-positive patients, particularly homosexual men." "" + "rectum lymphoma" "An extranodal lymphoma that arises from the rectum. The majority are B-cell non-Hodgkin lymphomas." "" + "ovarian disease" "A disease involving the ovary." "" + "pulp erosion" "A tooth erosion, non-bacterial that involves the dental pulp." "" + "obsolete malignant anus melanoma" "" "true" + "spinal cord lymphoma" "A non-Hodgkin or Hodgkin lymphoma that arises in the spinal cord as a primary lesion." "" + "primary central nervous system lymphoma" "A non-Hodgkin or Hodgkin lymphoma that arises in the brain or spinal cord as a primary lesion. There is no evidence of lymphoma outside the central nervous system at the time of diagnosis." "" + "spinal cord melanoma" "A melanoma (disease) that involves the spinal cord." "" + "primary melanoma of the central nervous system" "A melanoma that affects the central nervous system. It is characterized by pleomorphism, melanin pigmentation, a high mitotic rate, necrosis, and hemorrhage. It is a highly aggressive and radioresistant tumor. The prognosis is usually poor." "" + "spinal cord sarcoma" "A sarcoma that arises from the spinal cord." "" + "central nervous system sarcoma" "A sarcoma that arises from the central nervous system." "" + "acute retrobulbar neuritis" "Acute form of retrobulbar neuritis." "" + "retrobulbar neuritis" "" + "obstructive hydrocephalus" "An abnormal accumulation of cerebrospinal fluid within the ventricles of the brain that occurs as a consequence of an obstruction at any location within the ventricular system that prevents cerebrospinal fluid flowing into the subarachnoid space." "" + "bilateral hyperactive labyrinth" "" + "inner ear disease" "A non-neoplastic or neoplastic disorder affecting the inner ear. Causes are inner ear infections, head injuries, and neoplasms (e.g., acoustic schwannoma). Symptoms include dizziness, imbalance, nausea, and vision problems." "" + "uveal disease" "A non-neoplastic or neoplastic disorder that affects the uvea. Representative examples include uveitis, chorioretinitis, and uveal melanoma." "" + "rheumatic congestive heart failure" "" + "rheumatic heart disease" "An autoinflammatory condition following an infection with Group A Beta Hemolytic Streptococcus (GABHS), in which the heart is attacked by antibodies formed in reaction to a recent GABHS infection. Chief anatomic changes of the valve include leaflet thickening, commissural fusion, and shortening and thickening of the tendinous cords, all of which can result in valvular dysfunction." "" + "obsolete central neurocytoma" "" "true" + "selective IgG subclass deficiency" "A classification of dysgammaglobulinemias characterized by low or undetectable serum levels of one of the four immunoglobulin class G (IgG) subclasses. Selective IgG1 deficiency is rare and primarily decreases the immune response to bacterial protein antigens. Selective IgG2 deficiency is the most common subclass deficiency among children and primarily leads to an inadequate response to bacterial polysaccharide antigens. Selective IgG3 deficiency is the most common subclass deficiency among adults and also primarily lowers the response to bacterial proteins. Selective IgG4 deficiency may be a clinically insignificant developmental variant, as IgG4 is a subclass that is virtually undetectable until the end of the first decade of life. Low levels of any IgG subclass will reduce the immune system's effectiveness and thus the clinical presentation of these diseases is usually recurrent infection, particularly by encapsulated bacteria." "" + "immunoglobulin heavy chain deficiency" "" + "selective IgG immunodeficiency" "A broad classification of dysgammaglobulinemias characterized by low or undetectable serum levels of immunoglobulin class G (IgG). Deficiencies of IgG present variably according to subclass. IgG deficiencies are typically relative among subclasses and not absolute. Thus even with a given selective IgG subclass deficiency, total IgG levels may still fall within normal range. The clinical course and prognosis is dependent upon the severity of the deficiency and associated morbidity." "" + "congenital agammaglobulinemia" "An instance of agammaglobulinemia that is present from birth." "" + "calcific tendinitis" "" + "polyneuropathy due to drug" "" + "inflammatory and toxic neuropathy" "" + "bicipital tenosynovitis" "" + "tenosynovitis" "Inflammation of the synovial lining of a tendon sheath. Causes include trauma, tendon stress, bacterial disease (gonorrhea, tuberculosis), rheumatic disease, and gout. Common sites are the hand, wrist, shoulder capsule, hip capsule, hamstring muscles, and Achilles tendon. The tendon sheaths become inflamed and painful, and accumulate fluid. Joint mobility is usually reduced." "" + "posterior dislocation of lens" "" + "adult dermatomyositis" "Dermatomyositis in an adult." "" + "dermatomyositis" "Dermatomyositis (DM) is a type of idiopathic inflammatory myopathy characterized by evocative skin lesions and symmetrical proximal muscle weakness." "" + "obsolete hypophosphatasia" "" "true" + "renal tubular acidosis" "A group of genetic disorders of the kidney tubules characterized by the accumulation of metabolically produced acids with elevated plasma chloride, hyperchloremic metabolic acidosis. Defective renal acidification of urine (proximal tubules) or low renal acid excretion (distal tubules) can lead to complications such as hypokalemia, hypercalcinuria with nephrolithiasis and nephrocalcinosis, and rickets." "" + "ochronosis disorder" "A disorder characterized by bluish-black discoloration of the cartilaginous tissues due to accumulation of homogentisic acid. It is associated with alkaptonuria. Signs and symptoms include dark urine, skin pigmentation, and arthritis." "" + "tracheal calcification" "Abnormal deposits of calcium in the tracheal tissue." "" + "tracheal disease" "A non-neoplastic or neoplastic disorder that affects the trachea. Representative examples of non-neoplastic disorders include congenital malformations and infection. Representative examples of neoplastic disorders include carcinoma and lymphoma." "" + "acute frontal sinusitis" "Acute form of frontal sinusitis." "" + "oligospermia" "Decreased number of spermatozoa in the semen." "" + "scleromalacia perforans" "A rare form of necrotizing anterior scleritis without pain in which the sclera is notably white, avascular and thin. Both choroidal exposure and staphyloma formation may occur." "" + "necrotizing scleritis" "A severe form of scleritis with subtypes: necrotising zonal granulomatous inflammation, diffuse non-granulomatous chronic inflammation, mixed pattern of acute purulent inflammation mixed with granulomatous inflammation and sarcoidal pattern." "" + "orbital cyst" "" + "gastrointestinal tularemia" "A tularemia that results in formation of ulcerative lesions located in gastrointestinal tract. The infection has symptom fever, has symptom chills, has symptom malaise, has symptom muscle aches, and has symptom vomiting." "" + "chronic perichondritis of pinna" "Chronic form of perichondritis of auricle." "" + "perichondritis of auricle" "An otitis externa involving infection of the tissue surrounding the cartilage of the earlobe (pinna), ear canal, or both. It may be caused by injury, burns, insect bites, ear piercing, or a boil on the ear. The common bacterial causative agent is Pseudomonas aeruginosa. Symptoms include redness, pain, fever, swelling of the earlobe and pus accumulation between the cartilage and the layer of connective tissue around it." "" + "epiphora due to excess lacrimation" "" + "cystoid macular retinal degeneration" "" + "chronic purulent otitis media" "Otitis media that persists for at least six weeks, and that is associated with otorrhea through a perforated tympanic membrane." "" + "chronic atticoantral disease" "A chronic purulent otitis media which involves perforation in the attic region (pars flaccida of the tympanic membrane) or at the posterosuperior margin, with in-growth of squamous epithelium into the middle ear. This is caused as a result of poor ventilation of the middle ear and episodes of infection." "" + "pyoureter" "An abscess that is located in the ureter." "" + "ureteral disease" "A non-neoplastic or neoplastic disorder affecting the ureter." "" + "urinary tract infection" "" + "vitreoretinal dystrophy" "" + "dystrophies primarily involving the retinal pigment epithelium" "" + "retinal dystrophy in systemic or cerebroretinal lipidoses" "" + "pulmonary valve insufficiency" "Dysfunction of the pulmonary valve characterized by incomplete valve closure." "" + "pulmonary valve disease" "A disease involving the pulmonary valve." "" + "suppurative cholangitis" "Cholangitis that is characterized by pyogenic organisms." "" + "cholangitis" "An acute or chronic inflammatory process affecting the biliary tract." "" + "ascending cholangitis" "Acute infection of the bile ducts caused by bacteria ascending from the small intestine." "" + "acute cholangitis" "Cholangitis that is both sudden in onset and of a relatively short duration." "" + "pericholangitis" "Inflammation of the tissue surrounding the biliary ducts." "" + "obsolete atrophic vulva" "" "true" + "obsolete primary hypertrophic osteoarthropathy" "" "true" + "neurogenic arthropathy" "Chronic progressive degeneration of the stress-bearing portion of a joint, with bizarre hypertrophic changes at the periphery. It is probably a complication of a variety of neurologic disorders, particularly tabes dorsalis, involving loss of sensation, which leads to relaxation of supporting structures and chronic instability of the joint. (Dorland, 27th ed)" "" + "nervous system disorder" "A non-neoplastic or neoplastic disorder that affects the brain, spinal cord, or peripheral nerves." "" + "brawny scleritis" "" + "obsolete LEOPARD syndrome" "" "true" + "vulvar dystrophy" "A non-neoplastic lesion that affects the vulva and is characterized by thinning or thickening of the skin and dryness." "" + "skin epithelioid hemangioma" "A hemangioma arising from the skin. It is characterized by the presence of epithelioid endothelial cells." "" + "epithelioid hemangioma" "A hemangioma characterized by the presence of epithelioid endothelial cells." "" + "skin hemangioma" "A hemangioma arising from the skin." "" + "pleuropneumonia" "Inflammation of the lung parenchyma that is associated with pleurisy, inflammation of the pleura." "" + "generalized anxiety disorder" "An anxiety disorder characterized by excessive and difficult-to-control worry about a number of life situations. The worry is accompanied by restlessness, fatigue, inability to concentrate, irritability, muscle tension, and/or sleep disturbance and lasts for at least 6 months." "" + "Plasmodium malariae malaria" "Malaria resulting from infection by Plasmodium malariae." "" + "mixed malaria" "A malaria that involves infection with more than one species of Plasmodium at the same time." "" + "postencephalitic Parkinson disease" "A disease believed to be caused by a viral illness that triggers degeneration of the nerve cells in the substantia nigra. Overall, this degeneration leads to clinical parkinsonism." "" + "secondary Parkinson disease" "A condition with a clinical picture similar to that of Parkinson disease, but which is caused by external factors, including medication." "" + "parkinsonian syndrome due to neurodegenerative disease" "True" + "hyperestrogenism" "Abnormally high level of estrogen." "" + "suppurative thyroiditis" "Acute inflammatory disease of the thyroid gland due to infections by bacteria; fungi; or other microorganisms. Symptoms include tender swelling, fever, and often with leukocytosis." "" + "thyroiditis" "Inflammation of the thyroid gland. This category includes Hashimoto thyroiditis, Riedel thyroiditis, acute thyroiditis, subacute thyroiditis, and radiation-induced thyroiditis." "" + "obsolete Riedel's fibrosing thyroiditis" "" "true" + "acute thyroiditis" "Acute form of thyroiditis (disease)." "" + "corneal ectasia" "" + "Norwegian scabies" "A rare, severe form of scabies that is associated with immunosuppression. It is characterized by an immense number of mites and hyperkeratotic crusted lesions, and is usually accompanied by lymphadenopathy and eosinophilia." "" + "scabies" "A contagious skin infection that is caused by the burrowing parasitic mite, Sarcoptes scabiei, and is characterized by intense itching and small, raised red spots in the area of the mite burrows." "" + "neoplasm of parietal lobe" "A neoplasm (disease) that involves the parietal lobe." "" + "pyuria" "The presence of excessive white blood cells in the urine as determined by urinalysis." "" + "thrombophlebitis migrans" "A thrombophlebitis that is characterized by repeated occurances of thrombophlebitis in different locations." "" + "protozoal dysentery" "A dysentery that involves protozoan infection." "" + "capillary leak syndrome" "A syndrome characterized by leakage of intravascular fluids into the extravascular space. This syndrome is observed in patients who demonstrate a state of generalized leaky capillaries following shock syndromes, low-flow states, ischemia-reperfusion injuries, toxemias, medications, or poisoning. It can lead to generalized edema and multiple organ failure." "" + "critical illness polyneuropathy" "" + "obsolete autosomal dominant cerebellar ataxia" "" "true" + "labyrinthine bilateral reactive loss" "" + "obsolete Alpers syndrome" "" "true" + "obsolete glossopharyngeal neuralgia" "" "true" + "abnormality of glucagon secretion" "" + "obsolete cerebral degeneration disease" "" "true" + "chronic tubotympanic suppurative otitis media" "A suppurative otitis media which is an inflammatory disease of the middle ear cleft characterized by the presence of a persisting perforation within the pars tensa of the tympanic membrane, intermittent profuse muco-purulent otorrhea and gradually progressive conductive hearing loss of more than 12 weeks duration. It is caused by episodes of upper respiratory infections." "" + "sclerosing keratitis" "" + "chronic closed-angle glaucoma" "Chronic form of angle-closure glaucoma." "" + "gonadal dysgenesis" "A congenital disorder characterized by the presence of extremely hypoplastic gonads preventing the development of secondary sex characteristics." "" + "hypogonadism" "A disorder characterized by decreased function of the gonads. Clinical manifestations in both males and females include poor libido, infertility, and osteoporosis. Additional signs in males include erectile dysfunction, muscle atrophy, gynecomastia and increased abdominal fat. In females, additional signs include shrinking of the breasts and loss of, or failure to develop menstruation." "" + "obsolete 46 XY gonadal dysgenesis" "" "true" + "mixed gonadal dysgenesis" "A type of defective gonadal development in patients with a wide spectrum of chromosomal mosaic variants. Their karyotypes are of partial sex chromosome monosomy resulting from an absence or an abnormal second sex chromosome (X or Y). Karyotypes include 45,X/46,xx; 45,X/46,xx/47,xxx; 46,xxp-; 45,X/46,xy; 45,X/47,xyy; 46,xypi; etc. The spectrum of phenotypes may range from phenotypic female to phenotypic male including variations in gonads and internal and external genitalia, depending on the ratio in each gonad of 45,X primordial germ cells to those with normal 46,xx or 46,xy constitution." "" + "Turner syndrome" "Turner syndrome is a chromosomal disorder associated with the complete or partial absence of an X chromosome." "" + "obsolete hypokalemic periodic paralysis" "" "true" + "farmer's lung disease" "Hypersensitivity pneumonitis caused by the repeated exposure and inhalation of biological dust (such as hay dust, mold spores, or other agricultural products). It is considered a type II hypersensitivity inflammatory reaction. In the acute phase, signs and symptoms include fever, chills, cough, dyspnea, headache, and chest tightness. The subacute phase manifests as chronic cough, dyspnea, anorexia, and weight loss. The chronic phase results from the prolonged exposure to the antigen and is characterized by severe dyspnea and irreversible damage to the lungs." "" + "occupational allergic alveolitis" "Occupational allergic alveolitis designates a hypersensitivity pneumonitis resulting from the inhalation of an antigen to which an individual has been previously sensitized in his/her occupational environment. Symptoms vary depending on the antigen and the form (acute, subacute, chronic) of the disease. They may be cough, dyspnea, chills, fever, weight loss, loss of appetite and general malaise" "" + "Brucella melitensis brucellosis" "A brucellosis that involves an infection caused by Brucella melitensis [NCBITaxon:29459] in cattle, goats, sheep and humans. The disease has symptom fever, has symptom malaise, has symptom anorexia, has symptom limb pain and has symptom back pain." "" + "Brucella abortus brucellosis" "A bacterial infection caused by Brucella abortus that spreads from cattle to humans. Brucella abortus can cause of range of signs and symptoms including fever, chills, sweats, weight loss, malaise, headaches, myalgia, and arthralgia." "" + "hemangioma of orbit" "A hemangioma arising from the orbit." "" + "cavernous hemangioma of orbit" "A cavernous hemangioma arising from the orbit." "" + "cavernous hemangioma" "A hemangioma characterized by the presence of cavernous vascular spaces." "" + "chorea gravidarum" "A rare movement disorder developed during pregnancy, characterized by involuntary jerky motion (chorea) and inability to maintain stable position of body parts (athetosis). rheumatic fever and collagen vascular disorders are frequently associated with this disease. Chorea may vary from mild to severe and occurs in approximately 1 per 2,000 to 3,000 pregnancies. (From Md Med J 1997 Sep;46(8):436-9)" "" + "ureteral lymphoma" "A lymphoma that involves the ureter." "" + "regional ureteric cancer" "Carcinoma of the ureter without spread to any other region." "" + "ureter carcinoma" "A carcinoma that arises from epithelial cells of the ureter." "" + "dumping syndrome" "A disorder of the gastrointestinal tract. It is typically caused by the rapid emptying of undigested food from the stomach to the small intestine following gastroesophageal surgery but may be seen secondary to diabetes or the use of certain medications. Clinical signs may be seen 30-60 minutes after eating (early dumping): cramping, nausea, vomiting and diarrhea or they may be seen 1-3 hours later as a result of hyperinsulinemic hypoglycemia (late dumping): sweating, dizziness, confusion and heart palpitations. Untreated, the clinical course progresses to malnutrition and weight loss." "" + "postgastrectomy syndrome" "Sequelae of gastrectomy from the second week after operation on. Include recurrent or anastomotic ulcer, postprandial syndromes (dumping syndrome and late postprandial hypoglycemia), disordered bowel action, and nutritional deficiencies." "" + "obsolete Wolman disease" "" "true" + "obsolete cholesterol ester storage disease" "" "true" + "Niemann-Pick disease" "A group of inherited, severe metabolic disorders in which sphingomyelin accumulates in lysosomes in cells. The lysosomes normally transport material through and out of the cell." "" + "non-Langerhans cell histiocytosis" "Group of disorders which feature accumulations of active HISTIOCYTES and LYMPHOCYTES, but where the histiocytes are not LANGERHANS CELLS. The group includes HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS; SINUS HISTIOCYTOSIS; xanthogranuloma; reticulohistiocytoma; juvenile XANTHOGRANULOMA; xanthoma disseminatum; as well as the lipid storage diseases (SEA-BLUE HISTIOCYTE SYNDROME; and NIEMANN-PICK DISEASES)." "" + "sphingolipidosis" "An inherited metabolic disorder that affects the lysosomal degradation of the spinhgolipids. Representative examples include Gaucher disease, Tay-Sachs disease, and Niemann-Pick disease." "" + "peripheral degeneration of cornea" "" + "candidal paronychia" "A candidiasis that results in fungal infection of the outer-most layer located in nail, has material basis in Candida species. The infection causes painful, red, swollen area around the nail, often at the cuticle or at the site of a hangnail or other injury." "" + "partial arterial retinal occlusion" "A partial occlusion of the retinal artery." "" + "Argyll Robertson pupil" "" + "senile degeneration of brain" "" + "external pathological resorption" "" + "atrophic glossitis" "" + "malignant cardiac peripheral nerve sheath neoplasm" "A very rare malignant peripheral nerve sheath tumor that arises from the heart." "" + "heart sarcoma" "A malignant soft tissue neoplasm that arises from the heart. The majority of cases are angiosarcomas." "" + "malignant peripheral nerve sheath tumor" "Malignant peripheral nerve sheath tumor (MPNST) is a rare and often aggressive soft tissue sarcoma occurring in a wide range of anatomical sites." "" + "malignant cardiac germ cell tumor" "A rare malignant germ cell tumor that arises from the pericardium." "" + "malignant germ cell tumor" "A gonadal or extragonadal malignant neoplasm that arises from germ cells. Representative examples include embryonal carcinoma, yolk sac tumor, and seminoma." "" + "cardiac germ cell tumor" "A germ cell tumor that arises within the myocardium or cardiac chambers. The reported cases have been teratomas and yolk sac tumors." "" + "rete testis adenocarcinoma" "A carcinoma that arises from glandular epithelial cells of the rete testis" "" + "rete testis neoplasm" "A benign or malignant neoplasm that affects the rete testis. Representative examples include adenoma and adenocarcinoma." "" + "seminal vesicle adenocarcinoma" "A carcinoma that arises from glandular epithelial cells of the seminal vesicle" "" + "seminal vesicle tumor" "A benign or malignant neoplasm that affects the seminal vesicle. Representative examples include cystadenoma and adenocarcinoma." "" + "sphenoidal sinus cancer" "A malignant neoplasm involving the sphenoidal sinus." "" + "sphenoidal sinus neoplasm" "A benign or malignant neoplasm that affects the sphenoid sinus. Representative examples of benign neoplasms include Schneiderian papilloma and salivary gland-type adenoma. Representative examples of malignant neoplasms include carcinoma and lymphoma." "" + "sphenoid sinus squamous cell carcinoma" "A squamous cell carcinoma that arises from the mucosal epithelial surface of the sphenoid sinus. Patients may present with nasal fullness, obstruction, and/or epistaxis." "" + "paranasal sinus squamous cell carcinoma" "A squamous cell carcinoma that arises from the mucosal epithelial surface of the ethmoid, frontal, maxillary, or sphenoid sinus. Patients may present with nasal fullness, obstruction, and/or epistaxis." "" + "steroid-induced glaucoma - borderline" "" + "root resorption" "Resorption in which cementum or dentin is lost from the root of a tooth owing to cementoclastic or osteoclastic activity in conditions such as trauma of occlusion or neoplasms. (Dorland, 27th ed)" "" + "Foster-Kennedy syndrome" "Conditions which produce injury or dysfunction of the second cranial or optic nerve, which is generally considered a component of the central nervous system. Damage to optic nerve fibers may occur at or near their origin in the retina, at the optic disk, or in the nerve, optic chiasm, optic tract, or lateral geniculate nuclei. Clinical manifestations may include decreased visual acuity and contrast sensitivity, impaired color vision, and an afferent pupillary defect." "" + "papilledema" "Swelling around the optic disc, usually due to increased intracranial pressure or pressure on the optic nerve by a tumor." "" + "primary pulmonary hypertension" "Increased blood pressure in the arteries of the lungs; the etiology is unknown." "" + "anaerobic meningitis" "" + "anaerobic bacteria infectious disease" "" + "obsolete disease of cellular proliferation" "" "true" + "postsurgical hypothyroidism" "" + "atheroembolism of kidney" "A cholesterol embolism that involves the kidney." "" + "obsolete acrodysostosis" "" "true" + "serous labyrinthitis" "A labyrinthitits in which bacterial toxins invade the inner ear. It is the most common complication of acute or chronic middle ear infections." "" + "obsolete VACTERL association" "" "true" + "infectious otitis interna" "Inflammation of the anatomical structures of the inner ear secondary to an infectious process. Symptoms include severe vertigo, nausea, vomiting, anxiety, and pain. Viral etiology is most common, and recent history of an upper respiratory infection is common. In rare cases an infection of the middle ear can spread to the inner ear, resulting in a bacterial or fungal etiology." "" + "major depressive disorder" "An episode of depression lasting two or more weeks without an intervening episode of mania." "" + "FG syndrome" "FG syndrome (FGS) is a genetic condition that affects many parts of the body and occurs almost exclusively in males. 'FG' represents the surname initials of the firstindividuals diagnosed with the disorder.People withFG syndrome frequently have intellectual disability ranging from mild to severe, hypotonia, constipation and/or anal anomalies, a distinctive facial appearance, broad thumbs and great toes,alarge head compared to body size (relative macrocephaly), and abnormalities of the corpus callosum. Medical problems including heart defects, seizures, undescended testicle, and an inguinal hernia have also been reported in some affected individuals. Researchers have identified five regions of the X chromosome that are linked to FG syndrome in affected families. Mutations in the MED12 gene appears to be the most common cause of this disorder, leading to FG syndrome 1. Other genes involved with FG syndrome include FLNA (FGS2), CASK (FGS4), UPF3B (FGS6), and BRWD3 (FGS7).FGS is inherited in an X-linked recessive pattern.Individualized early intervention and educational services are important so that each child can reach their fullest potential." "" + "obsolete hereditary angioedema" "" "true" + "methylmalonic acidemia" "A rare autosomal recessive inherited disorder caused by mutations of the MUT, MMAA, MMAB, MMADHC, and MCEE genes. It is characterized by abnormalities in the metabolism of lipids and proteins. Signs and symptoms usually appear early in life and vary from mild to life threatening. They include vomiting, dehydration, hypotonia, developmental delays, hepatomegaly, lethargy, intellectual disabilities, and chronic kidney disease." "" + "simple vascular malformation" "" + "lymphatic vessel neoplasm" "A benign or malignant neoplasm arising from the lymphatic vessels." "" + "benign epithelial neoplasm" "A neoplasm arising from the epithelial cells. It is characterized by the absence of morphologic features associated with malignancy (severe cytologic atypia, tumor cell necrosis, and high mitotic rate). Benign epithelial neoplasms remain confined to the original site of growth and only rarely metastasize to other anatomic sites." "" + "autosomal recessive Ehlers-Danlos syndrome, vascular type" "The rare autosomal recessive form of the vascular type of Ehlers-Danlos syndrome. vEDS is almost always inherited in an autosomal dominant manner but rare examples of biallelic inheritance have been reported." "" + "Ehlers-Danlos syndrome, vascular type" "Ehlers-Danlos syndrome type IV, also known as the vascular type of Ehlers-Danlos syndrome (EDS), is an inherited connective tissue disorder defined by characteristic facial features (acrogeria) in most patients, translucent skin with highly visible subcutaneous vessels on the trunk and lower back, easy bruising, and severe arterial, digestive and uterine complications, which are rarely, if at all, observed in the other forms of EDS." "" + "obsolete brittle cornea syndrome" "" "true" + "benign familial neonatal epilepsy" "A condition marked by recurrent seizures that occur during the first 4-6 weeks of life despite an otherwise benign neonatal course. Autosomal dominant familial and sporadic forms have been identified. Seizures generally consist of brief episodes of tonic posturing and other movements, apnea, eye deviations, and blood pressure fluctuations. These tend to remit after the 6th week of life. The risk of developing epilepsy at an older age is moderately increased in the familial form of this disorder. (Neurologia 1996 Feb;11(2):51-5)" "" + "olivopontocerebellar atrophy" "A group of sporadic and inherited neurodegenerative disorders affecting the cerebellum, pons, and inferior olives." "" + "obsolete Leber congenital amaurosis" "" "true" + "obsolete hypohidrotic ectodermal dysplasia" "" "true" + "obsolete Blount disease" "" "true" + "periodontal disease" "An inflammatory process of the gingival tissues and/or periodontal membrane of the teeth, resulting in an abnormally deep gingival sulcus, possibly producing periodontal pockets and loss of alveolar bone support." "" + "mouth mucosa disease" "A disease or disorder that involves the mouth mucosa." "" + "obsolete sensory system disease" "A disease involving the sensory system." "" "true" + "obsolete cystic echinococcosis" "" "true" + "obsolete cholera" "" "true" + "avoidant personality disorder" "A disorder characterized by an enduring pattern of avoidance of social situations and interpersonal contact due to overwhelming feelings of social inadequacy and a hypersensitivity to negative evaluation or rejection." "" + "chronic gonorrhea of cervix" "Chronic form of gonococcal cervicitis." "" + "chronic cervicitis" "Chronic inflammation of the cervix." "" + "cecal disease" "Pathological developments in the cecum." "" + "colon carcinoma" "A carcinoma that arises from epithelial cells of the colon" "" + "colorectal carcinoma" "A malignant epithelial neoplasm that arises from the colon or rectum and invades through the muscularis mucosa into the submucosa. The vast majority are adenocarcinomas." "" + "colon lymphoma" "An extranodal lymphoma that arises from the colon. The majority are B-cell non-Hodgkin lymphomas." "" + "colorectal lymphoma" "An extranodal lymphoma that arises from the colon or rectum. The majority are B-cell non-Hodgkin lymphomas." "" + "penile disease" "A non-neoplastic or neoplastic disorder that affects the penis. Representative examples of non-neoplastic disorders include phimosis, balanitis, and hypospadias. Representative examples of neoplastic disorders include hemangioma, penile intraepithelial neoplasia, and penile carcinoma." "" + "head and neck carcinoma" "A carcinoma that arises from the head and neck region. Representative examples include oral cavity squamous cell carcinoma, laryngeal squamous cell carcinoma, and salivary gland carcinoma." "" + "mechanical ectropion" "An ectropion with a mechanical etiology." "" + "spastic ectropion" "" + "communicating hydrocephalus" "An abnormal accumulation of cerebrospinal fluid within the ventricles of the brain that occurs as a consequence of impaired cerebrospinal fluid reabsorption by the arachnoid granulations." "" + "alcohol abuse" "The use of alcoholic beverages to excess, either on individual occasions (\"binge drinking\") or as a regular practice." "" + "alcohol-related disorders" "Disorders related to or resulting from abuse or mis-use of alcohol." "" + "pulmonary systemic sclerosis" "" + "systemic sclerosis" "A chronic disorder, possibly autoimmune, marked by excessive production of collagen which results in hardening and thickening of body tissues. The two types of systemic scleroderma, limited cutaneous and diffuse cutaneous are classified with focus on the extent of affected skin. A relationship exists between the extent of skin area affected and degree of internal organ/system involvement. Systemic scleroderma can manifest itself in pulmonary fibrosis, Raynaud's syndrome, digestive system telangiectasias, renal hypertension and/or pulmonary hypertension." "" + "thrombocytopenia due to immune destruction" "A general class of thrombocytopenia due to immune destruction of platelets. It includes idiopathic thrombocytopenic purpura, as well as immune destruction-related thrombocytopenias due to other reasons (e.g., AIDS, transfusion, lupus erythematosus)." "" + "obsolete hypoglycemic coma" "" "true" + "obsolete breast cancer" "" "true" + "benign eccrine breast spiradenoma" "A very rare, benign sweat gland neoplasm that affects the breast. It is characterized by the proliferation of basaloid epithelial cells." "" + "benign spiradenoma" "A benign epithelial neoplasm with eccrine or apocrine differentiation, arising from the sweat glands. It usually presents as a solitary, well circumscribed, firm nodule in the face and upper trunk. It is characterized by the presence of basaloid cells forming nodules in the dermis. Cases of carcinoma arising from long standing spiradenomas have been reported." "" + "breast fibroadenoma" "A benign tumor of the breast characterized by the presence of stromal and epithelial elements. It presents as a painless, solitary, slow growing, firm, and mobile mass. It is the most common benign breast lesion. It usually occurs in women of childbearing age. The majority of fibroadenomas do not recur after complete excision. A slightly increased risk of developing cancer within fibroadenomas or in the breast tissue of patients previously treated for fibroadenomas has been reported." "" + "breast fibroepithelial neoplasm" "A benign or malignant biphasic neoplasm that arises from the breast parenchyma. It is characterized by the presence of an epithelial and a mesenchymal (stromal) component. The typical examples are fibroadenoma and phyllodes tumor." "" + "breast leiomyoma" "A well-circumscribed benign smooth muscle neoplasm arising from the breast. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern." "" + "breast adenoma" "A benign, well circumscribed neoplasm that arises from the breast. Representative examples include apocrine adenoma, tubular adenoma, and pleomorphic adenoma." "" + "obsolete breast duct papilloma" "" "true" + "intraductal papilloma" "An intraluminal papillary epithelial neoplasm arising within the ducts. Representative examples are the intraductal breast papilloma and the salivary gland intraductal papilloma." "" + "intraductal papillary breast neoplasm" "A benign or malignant papillary neoplasm that arises anywhere in the ductal system of the breast. It is characterized by fibrovascular structures lined by epithelial proliferations. This category includes intraductal papilloma and intraductal papillary carcinoma." "" + "intraductal breast neoplasm" "A benign or malignant epithelial neoplasm that arises anywhere in the ductal system of the breast. This category includes intraductal papilloma, intraductal papillary carcinoma, ductal hyperplasia with or without atypia, and ductal carcinoma in situ." "" + "breast myofibroblastoma" "A myofibroblastoma occurring in the breast of both women and men. It presents as a slowly growing mass." "" + "myofibroblastoma" "A benign, well circumscribed soft tissue neoplasm characterized by the presence of spindle shaped myofibroblasts and mast cells in a collagenous stroma." "" + "breast papillomatosis" "A benign breast neoplasm characterized by the proliferation of multiple papillomas." "" + "papillomatosis" "Glandular or squamous cell neoplastic proliferations characterized by the formation of multiple papillary structures diffusely involving a specific anatomic site." "" + "breast angiomatosis" "A benign diffuse vascular proliferation in the breast. It is characterized by the formation of capillary-sized and cavernous vascular spaces." "" + "benign breast adenomyoepithelioma" "A benign, nodular tumor that arises from the breast parenchyma. It is characterized by the proliferation of myoepithelial cells around spaces that are lined by epithelial cells. Occasionally, adenomyoepitheliomas may undergo malignant transformation." "" + "breast adenomyoepithelioma" "A usually benign tumor arising from the breast. It is characterized by the proliferation of cells with myoepithelial differentiation around spaces which are lined by epithelial cells. Rarely, the epithelial and/or myoepithelial cells may undergo malignant transformation. Cases with malignant transformation may follow an aggressive clinical course, including recurrences and local and distant metastases." "" + "breast myoepithelial tumor" "A benign or malignant tumor that arises from the breast and originates from or is composed of myoepithelial cells. Representative examples include adenomyoepithelioma, myoepitheliosis, and malignant myoepithelioma." "" + "female breast upper-inner quadrant cancer" "" + "female breast lower-inner quadrant cancer" "" + "female breast axillary tail cancer" "A cancer that involves the UBERON:0035289." "" + "ventricular septal defect" "The presence of a defect (opening) in the septum that separates the two ventricles of the heart. It can be congenital or acquired." "" + "heart septal defect" "A congenital disorder characterized by the presence of an abnormal communication between the atria or the ventricles of the heart due to defects in the cardiac septum." "" + "supratentorial cancer" "Primary and metastatic (secondary) tumors of the brain located above the tentorium cerebelli, a fold of dura mater separating the CEREBELLUM and brain STEM from the cerebral hemispheres and DIENCEPHALON (i.e., THALAMUS and HYPOTHALAMUS and related structures). In adults, primary neoplasms tend to arise in the supratentorial compartment, whereas in children they occur more frequently in the infratentorial space. Clinical manifestations vary with the location of the lesion, but SEIZURES; APHASIA; HEMIANOPSIA; hemiparesis; and sensory deficits are relatively common features. Metastatic supratentorial neoplasms are frequently multiple at the time of presentation." "" + "melanotic neuroectodermal tumor" "A rare neoplasm usually occurring in infants. It is characterized by the presence of a mixture of melanin-containing epithelial cells and smaller neuroblast-like cells. It may involve the skull and facial bones, or the epididymis. It usually has a benign clinical course." "" + "malignant pineal area germ cell neoplasm" "A malignant germ cell tumor that arises in the pineal region. Representative examples include germinoma, immature teratoma, choriocarcinoma, embryonal carcinoma and yolk sac tumor." "" + "central nervous system germ cell tumor" "A unique group of rare tumors of the central nervous system that affect mainly children and adolescents. Their morphologic and biologic profile corresponds to that of homologous germ cell tumors that arise in the gonads and in other extragonadal sites. Representative examples include: germinoma, embryonal carcinoma, yolk sac tumor, choriocarcinoma, and teratoma." "" + "pineal gland cancer" "Abnormal malignant growth of the cells that comprise the pineal parenchyma." "" + "Behcet syndrome arthropathy" "Arthropathy resulting from Behcet's syndrome." "" + "spontaneous tension pneumothorax" "" + "pneumothorax" "Abnormal presence of air in the pleural cavity." "" + "low implantation of placenta" "" + "placenta praevia" "Abnormal placentation in which the placenta implants in the lower segment of the uterus (the zone of dilation) and may cover part or all of the opening of the cervix. It is often associated with serious antepartum bleeding and premature labor." "" + "obsolete neuroendocrine tumor" "" "true" + "obsolete congenital ichthyosiform erythroderma" "" "true" + "Richter syndrome" "Transformation of chronic lymphocytic leukemia into aggressive non-Hodgkin's lymphoma, usually diffuse large B-cell lymphoma (immunoblastic or centroblastic variant). Occasional cases of transformation to Hodgkin's lymphoma have also been described, particularly in patients treated with purine nucleotide analogues. Molecular genetic studies suggest that in approximately half of the cases, the lymphoma is clonally related to the underlying chronic lymphocytic leukemia, whereas in the remaining cases the lymphoma probably represents a secondary, unrelated neoplasm." "" + "secondary neoplasm" "A neoplasm that arises from a pre-existing lower grade lesion, or as a result of a primary lesion that has spread to secondary sites, or due to a complication of a cancer treatment." "" + "B-cell chronic lymphocytic leukemia" "B-cell chronic lymphocytic leukemia (B-CLL) is a type of B-cell non-Hodgkin lymphoma, and the most common form of leukemia in Western countries, affecting elderly adults (mean age of 67 and 72 years) with a slight male predominance (1.7:1), and characterized by a highly variable clinical presentation that can include asymptomatic disease or non-specific B-symptoms such as unintentional weight loss, severe fatigue, fever (without evidence of infection), and night sweats as well as cervical lymphadenopathy, splenomegaly and frequent infections. Some patients can also develop autoimmune complications such as autoimmune hemolytic anemia or immune thrombocytopenia. The clinical course is extremely heterogeneous with survival ranging from a few months to several decades." "" + "obsolete neuroectodermal tumor" "" "true" + "benign shuddering attacks" "" + "clear cell acanthoma" "An acanthoma characterized by the presence of psoriasiform epidermal acanthosis and basal cells with pale cytoplasm." "" + "acanthoma" "A benign skin neoplasm composed of epithelial cells." "" + "partial retinal vein occlusion" "" + "retinal vein occlusion" "An occlusion of the retinal vein." "" + "retinal vascular occlusion" "An occlusion of the retinal vasculature." "" + "eccrine sweat gland neoplasm" "A neoplasm involving a eccrine sweat gland." "" + "sweat gland neoplasm" "A benign or malignant neoplasm arising from the sweat glands." "" + "obsolete cryptosporidiosis" "" "true" + "small intestine leiomyoma" "A benign smooth muscle neoplasm arising from the small intestine. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern." "" + "benign neoplasm of small intestine" "A benign neoplasm that involves the small intestine." "" + "obsolete conjunctival squamous cell carcinoma" "" "true" + "vascular cancer" "A malignant neoplasm arising from the blood vessels." "" + "blood vessel neoplasm" "A neoplasm arising from arteries or veins." "" + "malignant conjunctival melanoma" "A malignant melanoma within the conjunctiva of the eye." "" + "conjunctival cancer" "A malignant neoplasm involving the conjunctiva." "" + "obsolete ocular melanoma" "" "true" + "facial nerve neoplasm" "A neoplasm involving a facial nerve." "" + "lip disease" "A disease involving the lip." "" + "conversion disorder" "Conversion disorder is a disorder in which a person experiences blindness, paralysis, or other symptoms affecting the nervous system that cannot be explained solely by a physical illness or injury. Symptoms usually begin suddenly after a period of emotional or physical distress or psychological conflict. Conversion disorder is thought to be caused by the bodys reaction to a stressful physical or emotional event. Some research has identified potential neurological changes that may be related to symptoms of the disorder. Diagnosis of conversion disorder is based on identifying particular signs that are common among people with the disorder, as well as performing tests to rule out other causes of the symptoms. Treatment may include psychotherapy, hypnosis, and stress management training to help reduce symptoms. Treatment of any underlying psychological disorder is also recommended. The affected body part may require physical or occupational therapy until symptoms resolve." "" + "toxic megacolon" "An acute form of megacolon, severe pathological dilatation of the colon. It is associated with clinical conditions such as ulcerative colitis; crohn disease; amebic dysentery; or clostridium enterocolitis." "" + "labyrinthine unilateral reactive loss" "" + "unilateral hyperactive labyrinth" "" + "thyroid cancer" "A malignant neoplasm involving the thyroid gland" "" + "thyroid tumor" "A benign or malignant neoplasm affecting the thyroid gland." "" + "malignant endocrine neoplasm" "A malignant neoplasm affecting the endocrine glands. Representative examples include thyroid gland carcinoma, parathyroid gland carcinoma, pituitary gland carcinoma, and adrenal cortex carcinoma." "" + "pituitary cancer" "A primary or metastatic malignant neoplasm affecting the pituitary gland. Representative examples include functioning or non-functioning carcinomas arising from the anterior lobe of the pituitary gland, chordomas, chondrosarcomas, and metastatic carcinomas from the breast, lung, and gastrointestinal tract." "" + "skull cancer" "A malignant neoplasm involving the skull." "" + "thalamic cancer" "A cancer involving a dorsal plus ventral thalamus." "" + "pituitary tumor" "A benign or malignant neoplasm affecting the pituitary gland. The vast majority are adenomas arising from the anterior lobe of the pituitary gland." "" + "adrenal rest tumor" "A benign, testicular or ovarian tumor, derived from adrenal embryonic rest cells. It is composed of hyperplastic adrenal cortical tissue, and it is associated with congenital adrenal hyperplasia." "" + "obsolete peritoneal mesothelioma" "" "true" + "benign peritoneal mesothelioma" "A rare, benign neoplasm that arises from the peritoneum and is characterized by the presence of gland like structures. Cytologic atypia is absent." "" + "peritoneal mesothelioma" "A benign or malignant mesothelial neoplasm that arises from the peritoneum." "" + "peritoneal carcinoma" "A rare carcinoma that arises from the peritoneum and resembles the malignant surface epithelial-stromal tumors that arise from the ovary. Serous adenocarcinoma is the most common histologic variant. It affects women almost exclusively. The diagnosis of primary peritoneal carcinoma can be made only if both ovaries are not involved by tumor, or, if the ovaries are involved, the tumor is confined to the ovarian surface without invasion of the ovarian stroma and the peritoneal involvement is greater than the ovarian surface involvement." "" + "pancreas lymphoma" "A lymphoma that arises from the pancreas with the bulk of the tumor localized to this organ. The vast majority of cases are non-Hodgkin lymphomas of B-cell phenotype and include mucosa-associated lymphoid tissue lymphomas, follicular lymphomas, and diffuse large B-cell lymphomas." "" + "malignant pancreatic neoplasm" "A malignant neoplasm involving the pancreas." "" + "obsolete pancreatic cancer" "" "true" + "malignant exocrine pancreas neoplasm" "A malignant neoplasm that arises from the epithelial cells of the exocrine pancreatic tissue." "" + "pancreatic exocrine neoplasm" "A benign or malignant neoplasm that arises from the epithelial cells of the exocrine pancreatic tissue." "" + "pancreas sarcoma" "A rare malignant soft tissue neoplasm that occurs primarily in the pancreas." "" + "ossifying fibroma" "A well circumscribed lesion of the bone, most frequently arising from the posterior mandible. It is characterized by the presence of fibrous tissue and a mineralized component which may be woven bone, lamellar bone, or cementum-like material. Complete removal is recommended, since it continues to enlarge if left untreated." "" + "mononeuritis simplex" "Neuritis of a single nerve." "" + "secondary lacrimal atrophy" "" + "status epilepticus" "A life-threatening situation in which the brain is in a continuous state of seizure." "" + "obsolete childhood absence epilepsy" "" "true" + "mononeuritis multiplex" "A painful asymmetric asynchronous sensory and motor peripheral neuropathy involving isolated damage to at least 2 separate nerve areas; associated with (but not limited to) systemic disorders such as diabetes, vasculitis, amyloidosis, direct tumor involvement, polyarteritis nodosa, rheumatoid arthritis, systemic lupus erythematosus, and paraneoplastic syndromes. It also may be associated with Lyme disease, Wegener's granulomatosis, Sjogren syndrome, cryoglobulinemia, hypereosinophilia, temporal arteritis, scleroderma, sarcoidosis, leprosy, acute viral hepatitis A, and acquired immunodeficiency syndrome." "" + "upper limb mononeuronitis" "A disease affecting a single peripheral nerve of the upper limb." "" + "neoplasm of jaw" "A neoplasm (disease) that involves the jaw skeleton." "" + "skull neoplasm" "A benign or malignant neoplasm that affects the bones and structures of the skull." "" + "chronic rheumatic pericarditis" "Chronic form of rheumatic pericarditis." "" + "rheumatic pericarditis" "" + "disease of visual system" "A disease that involves the visual system." "" + "eczematous dermatitis of eyelid" "" + "noninfectious dermatoses of eyelid" "" + "allergic contact dermatitis of eyelid" "A allergic contact dermatitis that involves the eyelid." "" + "allergic contact dermatitis" "An inflammatory skin condition caused by an immune response to direct contact between the skin and an allergen. It consists of a delayed type of allergic reaction at the affected site with resulting red, swollen, and blistered skin that may itch or leak." "" + "eye allergy" "An allergic disease involving a pathogenic inflammatory response in the camera-type eye." "" + "sigmoid disease" "Pathological processes in the sigmoid colon region of the large intestine (intestine, large)." "" + "vagina sarcoma" "A malignant mesenchymal neoplasm that arises from the vagina. Representative examples include botryoid-type embryonal rhabdomyosarcoma, leiomyosarcoma, and endometrioid stromal sarcoma." "" + "cutaneous undifferentiated pleomorphic sarcoma" "An undifferentiated pleomorphic sarcoma arising from the skin. It is characterized by the presence of spindle cells in a storiform pattern and histiocytes with abundant cytoplasm." "" + "undifferentiated pleomorphic sarcoma" "An undifferentiated soft tissue sarcoma characterized by the presence of a pleomorphic malignant cellular infiltrate. It is also known as malignant fibrous histiocytoma." "" + "skin sarcoma" "A sarcoma that arises from the skin. Representative examples include Kaposi sarcoma, angiosarcoma, lymphangiosarcoma, liposarcoma, and leiomyosarcoma." "" + "histiocytoma" "A mesenchymal tumor composed of fibroblastic and histiocytic cells." "" + "bone sarcoma" "A sarcoma that arises from the bone. Representative examples are osteosarcoma and chondrosarcoma." "" + "vaginal yolk sac tumor" "A rare yolk sac tumor that arises from the vagina. Patients present with abnormal vaginal bleeding or bloody discharge." "" + "yolk sac tumor" "A non-seminomatous malignant germ cell tumor composed of primitive germ cells. It is the most common malignant germ cell tumor in the pediatric population. It occurs in the infant testis, ovary, sacrococcygeal region, vagina, uterus, prostate, abdomen, liver, retroperitoneum, thorax, and pineal/third ventricle. The tumor mimics the yolk sac of the embryo and produces alpha-fetoprotein (AFP). Treatment includes: surgical resection, radiation, and chemotherapy. This tumor is very responsive to chemotherapy regimens that include cisplatinum." "" + "vaginal germ cell malignant tumor" "A malignant germ cell tumor that involves the vagina." "" + "obsolete hyperuricemia" "" "true" + "developmental defect during embryogenesis" "A disease that has its basis in the disruption of embryonic morphogenesis." "" + "obsolete Coffin-Siris syndrome" "" "true" + "obsolete sphingolipidosis" "" "true" + "hypothalamic disease" "Neoplastic, inflammatory, infectious, and other diseases of the hypothalamus. Clinical manifestations include appetite disorders; autonomic nervous system diseases; sleep disorders; behavioral symptoms related to dysfunction of the limbic system; and neuroendocrine disorders." "" + "thalamic disease" "A disorder of the thalamus. Causes include brain neoplasms, cerebrovascular disorders, brain trauma, brain hypoxia, infections, and brain hemorrhage. Signs and symptoms include movement and sensory abnormalities, visual abnormalities, ataxia, and coma." "" + "obsolete dysostosis" "" "true" + "intermittent squint" "" + "telogen effluvium" "A scalp hair loss condition characterized by excessive shedding of hair in the resting phase of growth, usually following a fever or major body stress." "" + "alopecia" "Hair loss usually from the scalp. It may result in bald spots or spread to the entire scalp or the entire epidermis. It may be androgenetic or caused by chemotherapeutic agents, compulsive hair pulling, autoimmune disorders or congenital conditions." "" + "trichomoniasis" "An infection that is caused by Trichomonas." "" + "cholecystitis" "An acute or chronic inflammation involving the gallbladder wall. It may be associated with the presence of gallstones." "" + "genetic biliary tract disease" "Genetic biliary tract disease." "" + "obsolete fallopian tube carcinoma" "" "true" + "fallopian tube cancer" "A primary or metastatic malignant neoplasm that affects the fallopian tube. Representative examples include carcinoma, carcinosarcoma, and leiomyosarcoma." "" + "fallopian tube leiomyosarcoma" "An aggressive malignant smooth muscle neoplasm, arising from the fallopian tube. It is characterized by a proliferation of neoplastic spindle cells." "" + "leiomyosarcoma" "An uncommon, aggressive malignant smooth muscle neoplasm, usually occurring in post-menopausal women. It is characterized by a proliferation of neoplastic spindle cells. Morphologic variants include epithelioid, granular cell, inflammatory and myxoid leimyosarcomas." "" + "obsolete cerebral palsy" "" "true" + "obsolete fallopian tube carcinosarcoma" "" "true" + "fallopian tube adenosarcoma" "An extremely rare malignant neoplasm that arises from the fallopian tube and is characterized by the presence of a benign epithelial component and a sarcomatous component." "" + "adenosarcoma" "A low grade malignant neoplasm characterized by the presence of a benign epithelial component (tubular and cleft-like glands) and a low grade sarcomatous component that contains varying amounts of fibrous and smooth muscle tissues. In a minority of cases, the sarcomatous component contains heterologous elements including striated muscle, cartilage, and fat. It occurs in the uterine corpus, ovary, fallopian tube, cervix, and vagina. It may recur and in a minority of cases may metastasize to distant anatomic sites." "" + "fallopian tube carcinosarcoma" "A carcinosarcoma that arises from the fallopian tube. It usually affects postmenopausal women and presents with abdominal pain, abdominal distension or genital bleeding. The prognosis is usually poor." "" + "thymus lipoma" "A well-circumscribed tumor of the thymus composed of islands of normal thymic parenchyma and mature adipose tissue. It is not clear if thymolipoma is a neoplastic or non-neoplastic lesion." "" + "benign neoplasm of thymus" "A benign neoplasm that involves the thymus." "" + "rectal neoplasm" "A benign or malignant neoplasm that affects the rectum. Representative examples of benign neoplasms include lipoma and leiomyoma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and sarcoma. Rectal adenomas always exhibit epithelial dysplasia and are considered premalignant neoplasms." "" + "colorectal neoplasm" "A benign or malignant neoplasm that affects the colon or rectum. Representative examples of benign neoplasms include lipoma and leiomyoma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and sarcoma. Colorectal adenomas always exhibit epithelial dysplasia and are considered premalignant neoplasms." "" + "rectum malignant melanoma" "An aggressive malignant melanocytic neoplasm that arises from the rectum." "" + "rectum neuroendocrine neoplasm" "A neoplasm with neuroendocrine differentiation that arises from the rectum. It includes well differentiated neuroendocrine tumors (low and intermediate grade) and poorly differentiated neuroendocrine carcinomas (high grade)." "" + "rectal carcinoma" "A malignant epithelial neoplasm that arises from the rectum and invades through the muscularis mucosa into the submucosa. The vast majority are adenocarcinomas." "" + "rectum sarcoma" "A malignant soft tissue neoplasm that arises from the rectum. Representative examples include angiosarcoma, Kaposi sarcoma, and leiomyosarcoma." "" + "rectum adenocarcinoma" "An adenocarcinoma arising from the rectum. It is more frequently seen in populations with a Western type diet and in patients with a history of chronic inflammatory bowel disease. Signs and symptoms include intestinal bleeding, anemia, and change in bowel habits. According to the degree of cellular differentiation, rectal adenocarcinomas are divided into well, moderately, and poorly differentiated. Histologic variants include mucinous adenocarcinoma, signet ring cell carcinoma, medullary carcinoma, serrated adenocarcinoma, cribriform comedo-type adenocarcinoma, and micropapillary adenocarcinoma." "" + "chronic eustachian salpingitis" "Chronic form of otosalpingitis." "" + "giant cell tumor" "A benign, intermediate, or malignant tumor that arises from the bone or soft tissue. It is characterized by the presence of multinucleated osteoclast-like giant cells." "" + "neuroma" "A tumor that grows from a nerve or is composed of nerve cells and nerve fibers." "" + "nerve sheath neoplasm" "A benign or malignant neoplasm arising from the perineural cells in the sheaths surrounding the nerves. Representative examples include neurofibroma, schwannoma, and malignant peripheral nerve sheath tumor." "" + "preretinal fibrosis" "A membrane on the vitreal surface of the retina resulting from the proliferation of one or more of three retinal elements: (1) fibrous astrocytes; (2) fibrocytes; and (3) retinal pigment epithelial cells. Localized epiretinal membranes may occur at the posterior pole of the eye without clinical signs or may cause marked loss of vision as a result of covering, distorting, or detaching the fovea centralis. Epiretinal membranes may cause vascular leakage and secondary retinal edema. In younger individuals some membranes appear to be developmental in origin and occur in otherwise normal eyes. The majority occur in association with retinal holes, ocular concussions, retinal inflammation, or after ocular surgery. (Newell, Ophthalmology: Principles and Concepts, 7th ed, p291)" "" + "obsolete connective tissue cancer" "A malignant neoplasm involving the connective tissue" "" "true" + "hyperinsulinism" "Abnormally high levels of insulin in the blood." "" + "placenta cancer" "A malignant neoplasm involving the placenta." "" + "placenta neoplasm" "A neoplasm (disease) that involves the placenta." "" + "obsolete placental choriocarcinoma" "" "true" + "obsolete gestational choriocarcinoma" "" "true" + "exostosis" "Non-neoplastic overgrowth of bone." "" + "hyperostosis" "Excessive thickening of bone." "" + "communication disorder" "A disorder characterized by an individual's inability to comprehend or share ideas or feelings because of an impairment in language, speech, or hearing." "" + "drug-induced hepatitis" "Liver disease lasting six months or more, caused by an adverse drug effect. The adverse effect may result from a direct toxic effect of a drug or metabolite, or an idiosyncratic response to a drug or metabolite." "" + "drug-induced liver injury" "A spectrum of clinical liver diseases ranging from mild biochemical abnormalities to acute liver failure, caused by drugs, drug metabolites, and chemicals from the environment." "" + "acute maxillary sinusitis" "Acute form of maxillary sinusitis." "" + "vulvar nodular hidradenoma" "A benign neoplasm that arises from sweat glands in the vulva and is characterized by the presence of lobules composed of epithelial cells with clear cytoplasm." "" + "nodular hidradenoma" "A benign epithelial neoplasm arising from the sweat glands. It presents as a nodular lesion usually in the scalp, trunk, and proximal extremities. It is characterized by a nodular growth pattern. Complete excision is curative." "" + "benign neoplasm of sweat gland" "A benign neoplasm that involves the sweat gland." "" + "hidradenoma" "A benign epithelial neoplasm arising from the sweat glands. Variants include the clear cell and nodular hidradenoma." "" + "vulvar syringoma" "A benign neoplasm that arises from eccrine ducts in the vulva and is characterized by the presence of tubules and cysts which are lined by epithelial cells in the densely fibrotic dermis." "" + "syringoma" "A benign sweat gland neoplasm usually affecting the lower eyelids and upper cheeks. The lesions are papular and are usually numerous. Morphologically, there are nests, cords, and tubules of epithelial cells present, surrounded by a dense stroma in the reticular dermis." "" + "vulvar angiokeratoma" "An uncommon benign lesion in the vulva. It manifests with multiple papular lesions which are purple in color. They are usually asymptomatic. Histologically, there is hyperkeratosis, papillomatosis, and dilated blood vessels in the papillary dermis." "" + "angiokeratoma" "A vascular lesion in the papillary dermis resulting from ectasia of pre-existing vessels. It is associated with secondary proliferative changes in the overlying epidermis (hyperkeratosis). It can present with widespread lesions (angiokeratoma corporis diffusum, often associated with inborn errors of metabolism) or as a localized lesion (angiokeratoma of Fordyce, angiokeratoma circumscriptum, and angiokeratoma of Mibelli)." "" + "angiokeratoma of Fordyce" "An angiokeratoma that is located on the scrotum or vulva." "" + "Bartholin gland benign neoplasm" "A benign neoplasm that affects the Bartholin gland. Representative examples include adenoma, adenomyoma, adenocarcinoma, and squamous cell carcinoma." "" + "Bartholin gland neoplasm" "A benign or malignant neoplasm that affects the Bartholin gland. Representative examples include adenoma, adenomyoma, adenocarcinoma, and squamous cell carcinoma." "" + "vestibular papilloma" "A benign papillary neoplasm that arises from the vulva and is characterized by the presence of a delicate fibrovascular stalk lined by squamous epithelium. There is no evidence of epithelial atypia." "" + "vulvar squamous neoplasm" "A benign, precancerous, or malignant neoplasm that arises from the squamous epithelium of the vulva. Representative examples include vestibular papilloma, intraepithelial neoplasia, and squamous cell carcinoma." "" + "perinatal intestinal perforation" "" + "intestinal perforation" "A rupture in the wall of the small or large intestine due to traumatic or pathologic processes." "" + "minor vestibular glands adenoma" "A rare, benign neoplasm that arises from the vulva It is characterized by the presence of clusters of small glands lined by mucinous epithelial cells. Bartholin duct structures are not present." "" + "vulvar glandular neoplasm" "A benign or malignant neoplasm that arises from the vulva and is composed of glandular epithelial cells. Representative examples include adenoma of the minor vestibular glands, Bartholin gland adenoma, and Bartholin gland adenocarcinoma." "" + "benign urethral neoplasm" "Abnormal growth of the cells of the urethra (lower urinary tract) without malignant characteristics." "" + "benign mixed tumor of the vulva" "A benign neoplasm that arises from the vulva and is characterized by the presence of epithelial cells forming nests and tubules in a fibrotic stroma. It may recur locally and complete excision is recommended." "" + "eccrine mixed tumor of skin" "A rare, benign, slow-growing and painless neoplasm of sweat glands. It usually arises in the head and neck. It is characterized by the presence of a mesenchymal chondroid stroma, fibrosis, and epithelial structures." "" + "mixed neoplasm" "A neoplasm composed of at least two distinct cellular populations." "" + "vulvar trichoepithelioma" "A benign neoplasm that arises from the vulva and is characterized by the presence of nests of monomorphic basaloid cells forming small cysts that contain keratin." "" + "trichoblastoma" "A benign hair follicle neoplasm with trichoblastic differentiation. It usually presents as a solitary papular lesion It most often presents on the head and neck area, but it may develop in any anatomic site containing hair follicles. Because of its benign nature, treatment usually is not required, provided that the diagnosis has been established with certainty." "" + "outlet dysfunction constipation" "" + "constipation disorder" "Irregular and infrequent or difficult evacuation of the bowels." "" + "bowel dysfunction" "Any disease in which the causes of the disease is a perturbation of the lower digestive tract leading to its dysfunction." "" + "transient arthritis" "Arthritis that is not permanent." "" + "vulvar melanoma" "A usually pigmented, nodular or polypoid malignant neoplasm that originates from melanocytes and arises from the vulva. It presents with bleeding and dysuria." "" + "sweat gland cancer" "A malignant neoplasm that affects the sweat glands." "" + "vulval Paget disease" "An uncommon intraepithelial malignant neoplasm of eccrine or apocrine origin, arising from the vulva. It usually affects post-menopausal women. In approximately 10-20% of the cases there is an associated anorectal, or urothelial carcinoma or a skin appendage adenocarcinoma identified. It presents as a red, eczematous lesion. Microscopically, it is characterized by the presence of the typical Paget cells which are large, round cells with abundant cytoplasm and prominent nuclei." "" + "Paget disease" "A malignant neoplasm composed of large cells with large nuclei, prominent nucleoli, and abundant pale cytoplasm (Paget cells). Paget cell neoplasms include Paget disease of the nipple and extramammary Paget disease which may affect the vulva, penis, anus, skin and scrotum." "" + "extramammary Paget disease" "A malignant neoplasm in which there is infiltration of the skin by neoplastic large cells with abundant pale cytoplasm and large nuclei with prominent nucleoli (Paget cells). It may affect the anus, penis, scrotum, and vulva." "" + "vulvar adenocarcinoma" "An adenocarcinoma that arises from the vulva. Representative examples include Bartholin gland adenocarcinoma, eccrine adenocarcinoma, apocrine adenocarcinoma, and sebaceous carcinoma." "" + "obsolete vulva adenocarcinoma" "" "true" + "heel spur" "A bony outgrowth on the lower surface of the calcaneus. Though often presenting along with plantar fasciitis (fasciitis, plantar), they are not considered causally related." "" + "obsolete vulva squamous cell carcinoma" "" "true" + "immunodeficiency disease" "Disease in which there is a deficiency or defect in the mechanisms of immunity, either cellular or humoral." "" + "pneumonic tularemia" "A tularemia that is located in lungs. The bacteria are transmitted by breathing dusts or aerosols containing the organisms. The infection has symptom cough, has symptom chest has symptom pain, and has symptom difficulty breathing." "" + "obsolete tularemia" "" "true" + "brain germinoma" "A germinoma (disease) that involves the brain." "" + "germinoma" "A malignant germ cell tumor arising in the central nervous system. It is characterized by the presence of primitive, large malignant germ cells and lymphocytes." "" + "central nervous system germinoma" "A malignant germ cell tumor arising from the central nervous system. It is composed of uniform cells resembling primitive germ cells. These cells have large, vesicular nuclei, prominent nucleoli and a clear, glycogen-rich cytoplasm. Additional features are lymphoid or lymphoplasmacytic infiltrates and, less frequently, scattered syncytiotrophoblastic giant cells. (Adapted from WHO)" "" + "obsolete atypical teratoid rhabdoid tumor" "" "true" + "brain sarcoma" "A sarcoma arising from the brain." "" + "temporal lobe cancer" "A cancer that involves the temporal lobe." "" + "neoplasm of temporal lobe" "A neoplasm (disease) that involves the temporal lobe." "" + "urethral urothelial papilloma" "Papilloma's are benign epithelial neoplasms that produce visible warty projections from epithelial surfaces. Papilloma's of the urethra typically occur just within or on the external meatus. - 2003" "" + "urothelial papilloma" "A rare benign condition, characterized by a papillary growth in the urinary tract with a central fibrovascular core. The latter is lined by normal urothelium." "" + "urethra leiomyoma" "A benign smooth muscle neoplasm arising from the urethra. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern." "" + "ovarian malignant mesothelioma" "A rare malignant mesothelial neoplasm that usually involves both the ovarian surface and the ovarian stroma. In most cases there is bilateral ovarian involvement." "" + "malignant mesothelioma" "A malignant neoplasm of the pleura or peritoneum, arising from mesothelial cells. It is associated with exposure to asbestos." "" + "ovarian cancer" "A primary or metastatic malignant neoplasm involving the ovary. Most primary malignant ovarian neoplasms are either carcinomas (serous, mucinous, or endometrioid adenocarcinomas) or malignant germ cell tumors. Metastatic malignant neoplasms to the ovary include carcinomas, lymphomas, and melanomas." "" + "malignant ovarian cyst" "A cystic cancerous tumor arising from the ovary." "" + "ovarian sarcoma" "A rare, aggressive malignant mesenchymal neoplasm that arises from the ovary. The prognosis is poor." "" + "tuberculous oophoritis" "An urogenital tuberculosis involving a pathogenic inflammatory response in the ovary." "" + "ovarian lymphoma" "A lymphoma that affects the ovary. Lymphomatous involvement of the ovary is rare and in approximately half of the cases both ovaries are affected." "" + "obsolete malignant ovarian surface epithelial-stromal neoplasm" "" "true" + "ovarian epithelial tumor" "A benign, borderline, or malignant tumor that originates from the surface epithelium of the ovary. It is composed of epithelial cells and stroma. Representative examples of benign tumors include serous cystadenoma, mucinous cystadenoma, and benign Brenner tumor. Representative examples of borderline tumors include serous surface papillary tumor, mucinous adenofibroma, and borderline Brenner tumor. Representative examples of malignant tumors include serous adenocarcinoma, mucinous adenocarcinoma, endometrioid adenocarcinoma, and malignant Brenner tumor." "" + "epithelial neoplasm" "A benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas." "" + "ovarian Wilms tumor" "An embryonal neoplasm arising from the ovary with morphologic features resembling Wilms tumor of the kidney. It occurs during the reproductive age and may present as a rapidly growing adnexal mass." "" + "Wilms tumor" "An embryonal neoplasm characterized by the presence of epithelial, mesenchymal, and blastema components. The vast majority of cases arise from the kidney. A small number of cases with morphologic features resembling Wilms tumor of the kidney have been reported arising from the ovary and the cervix." "" + "obsolete malignant ovarian germ cell neoplasm" "" "true" + "nasal cavity disease" "A disease involving the nasal cavity." "" + "enamel caries" "A dental caries that involves the enamel." "" + "eyelid neoplasm" "A benign or malignant neoplasm that affects the eyelid. Representative examples include hemangioma, nevus, and carcinoma." "" + "eye neoplasm" "A neoplasm (disease) that involves the eye." "" + "ocular cancer" "A benign or malignant neoplasm affecting the structures of the eye." "" + "carbuncle" "An infection of cutaneous and subcutaneous tissue that consists of a cluster of boils. Commonly, the causative agent is staphylococcus aureus. Carbuncles produce fever, leukocytosis, extreme pain, and prostration." "" + "ascending colon cancer" "A malignant neoplasm involving the ascending colon." "" + "post-surgical hypoinsulinemia" "" + "acute perichondritis of pinna" "Acute form of perichondritis of auricle." "" + "factor XIII deficiency" "An acquired or inherited coagulation disorder due to reduced levels and activity of factor XIII." "" + "coagulation protein disease" "Congenital or acquired deficiency of one of the coagulation factors. It results in bleeding." "" + "factor VII deficiency" "A coagulation disorder characterized by the partial or complete absence of factor VII activity in the blood." "" + "factor X deficiency" "A coagulation disorder characterized by the partial or complete absence of factor X activity in the blood." "" + "obsolete myeloproliferative neoplasm" "" "true" + "thrombocytosis disease" "A disease characterized by higher than normal platelet counts in the peripheral blood." "" + "basilar artery insufficiency" "A syndrome which occurs as a result of the occlusion of the basilar artery. It may be caused by atherosclerosis, embolism or hemorrhage. Clinical signs include dizziness, headache, vomiting, hemiparesis or hemiplegia, dysarthria, dysphagia, blurred vision and loss of consciousness. The clinical course is variable and is dependent upon the extent of the occlusion and the location of the clot along the basilar artery which determines the resultant neurologic impairment. Prognosis is dismal in cases where a complete occlusion occurs with rapid deterioration of neurological function." "" + "granulomatous hepatitis" "Hepatitis that is characterized by the presence of granulomas." "" + "spondylosis" "A degenerative spinal disease that can involve any part of the vertebra, the intervertebral disk, and the surrounding soft tissue." "" + "hypertrophic elongation of cervix" "" + "ankylosis" "Fixation and immobility of a joint." "" + "pharyngitis" "Inflammation of the throat most often caused by viral and bacterial infections. Other causes include allergens, chemical substances, and trauma." "" + "head or neck disease/disorder" "Any disease or disorder affecting the head and/or neck region." "" + "hidradenitis" "An inflammatory disease involving a pathogenic inflammatory response in the apocrine sweat gland." "" + "apocrine sweat gland disease" "A disease that involves the apocrine sweat gland." "" + "capillary lymphangioma" "A lymphangioma that involves the capillary." "" + "benign blood vessel neoplasm" "A benign neoplasm arising from arteries or veins." "" + "obsolete atrophy of prostate" "" "true" + "stereotypic movement disorder" "Motor behavior that is repetitive, often seemingly driven, and nonfunctional. This behavior markedly interferes with normal activities or results in severe bodily self-injury. The behavior is not due to the direct physiological effects of a substance or a general medical condition. (dsm-iv, 1994)" "" + "malt worker's lung" "An extrinsic allergic alveolitis caused by infection with Aspergillus." "" + "allergic bronchopulmonary aspergillosis" "Allergic bronchopulmonary aspergillosis (ABPA) is a rare immunologic pulmonary disorder caused by hypersensitivity to Aspergillus fumigatus, clinically manifesting with poorly controlled asthma and recurrent pulmonary infiltrates." "" + "obstructive lung disease" "Any disorder marked by obstruction of conducting airways of the lung. airway obstruction may be acute, chronic, intermittent, or persistent." "" + "dyspepsia" "An uncomfortable, often painful feeling in the stomach, resulting from impaired digestion. Symptoms include burning stomach pain, bloating, heartburn, nausea, and vomiting. Causes include gastritis, gastric ulcer, gastroesophageal reflux disease, pancreatic disease, and gallbladder disease." "" + "viral gastritis" "Inflammation of the stomach resulting from viral infection." "" + "polyclonal hypergammaglobulinemia" "A laboratory test result indicating abnormally high proliferation of gamma globulins in the blood originating from multiple cell lines." "" + "plasma protein metabolism disease" "An inherited metabolic disorder that involves plasma protein metabolism malfunction." "" + "monoclonal paraproteinemia disease" "A disease characterized by the presence of excessive amounts of paraprotein or single monoclonal gammaglobulin in the blood. It is usually due to an underlying immunoproliferative disorder or hematologic neoplasms, especially multiple myeloma." "" + "monoclonal gammopathy" "A condition characterized by the abnormal presence of monoclonal immunoglobulins in the blood or urine." "" + "generalized atherosclerosis" "Atherosclerosis that is not localized." "" + "obsolete arteriosclerotic cardiovascular disease" "" "true" + "colonic neoplasm" "A benign or malignant neoplasm that affects the colon. Representative examples of benign neoplasms include lipoma and leiomyoma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and sarcoma. Colonic adenomas always exhibit epithelial dysplasia and are considered premalignant neoplasms." "" + "benign neoplasm of large intestine" "A benign neoplasm that involves the large intestine." "" + "West Nile fever" "A mosquito-borne viral illness caused by the west nile virus, a flavivirus and endemic to regions of Africa, Asia, and Europe. Common clinical features include headache; fever; maculopapular rash; gastrointestinal symptoms; and lymphadenopathy. meningitis; encephalitis; and myelitis may also occur. The disease may occasionally be fatal or leave survivors with residual neurologic deficits. (From Joynt, Clinical Neurology, 1996, Ch26, p13; Lancet 1998 Sep 5;352(9130):767-71)" "" + "neuroaxonal dystrophy" "A nonspecific term referring both to the pathologic finding of swelling of distal portions of axons in the brain and to disorders which feature this finding. Neuroaxonal dystrophy is seen in various genetic diseases, vitamin deficiencies, and aging. Infantile neuroaxonal dystrophy is an autosomal recessive disease characterized by arrested psychomotor development at 6 months to 2 years of age, ataxia, brain stem dysfunction, and quadriparesis. Juvenile and adult forms also occur. Pathologic findings include brain atrophy and widespread accumulation of axonal spheroids throughout the neuroaxis, peripheral nerves, and dental pulp. (From Davis & Robertson, Textbook of Neuropathology, 2nd ed, p927)" "" + "obsolete gangliosidosis" "" "true" + "iris disease" "A disease involving the iris." "" + "glandular cystitis" "A reactive inflammatory disorder affecting the bladder. It is characterized by the development of small cysts in the bladder wall. The cysts are lined by metaplastic glandular cells." "" + "chronic cystitis" "Recurrent infections of the urinary bladder." "" + "obsolete ovarian cancer" "" "true" + "clitoris cancer" "A malignant neoplasm that affects the clitoris." "" + "clitoris neoplasm" "A neoplasm involving a clitoris." "" + "cutaneous granular cell tumor" "A granular cell tumor that involves the zone of skin." "" + "granular cell tumor" "An unusual benign or malignant neoplasm characterized by the presence of neoplastic large polygonal cells with granular, eosinophilic cytoplasm which contains abundant lysosomes. It was originally thought to be a tumor originating from muscle cells and was named granular cell myoblastoma. Subsequent studies have suggested a derivation from Schwann cells. It affects females more often than males and it usually presents as a solitary mass. A minority of patients have multiple tumors. It can arise from many anatomic sites including the posterior pituitary gland, skin, oral cavity, esophagus, stomach, heart, mediastinum, and breast." "" + "dermis tumor" "A benign, intermediate, or malignant neoplasm that arises from the dermis." "" + "obsolete granular cell tumor" "" "true" + "cutaneous ganglioneuroma" "A ganglioneuroma arising from the skin." "" + "ganglioneuroma" "A benign neuroblastic tumor of the sympathetic nervous system that occurs in childhood. Ganglioneuroma typically arises from the sympathetic trunk in the mediastinum. Histologic features include spindle cell proliferation (resembling a neurofibroma) and the presence of large ganglion cells. Common presenting features include a palpable abdominal mass, hepatomegaly, and a thoracic mass detected on routine chest X-ray." "" + "obsolete gangliocytoma" "" "true" + "skin glomus tumor" "A glomus tumor arising from the skin. It usually presents as a small red-blue nodule and it often associated with pain at the site." "" + "glomus tumor" "A rare benign or malignant mesenchymal neoplasm arising from cells that resemble the modified smooth muscle cells of the glomus body. The majority of glomus tumors occur in the distal extremities." "" + "obsolete glomus tumor" "" "true" + "epidermal appendage tumor" "A benign or malignant neoplasm that arises from the hair follicles, sebaceous glands, or sweat glands." "" + "cutaneous glomangioma" "A glomus tumor arising from the skin. It is characterized by the presence of dilated veins surrounded by glomus cells." "" + "glomangioma" "A morphologic variant of the glomus tumor characterized by the presence of dilated veins, surrounded by small clusters of glomus cells. Glomangiomas are most often present in patients with multiple lesions." "" + "dermis disease" "A disease that involves the dermis." "" + "frontal sinus squamous cell carcinoma" "A squamous cell carcinoma that arises from the mucosal epithelial surface of the frontal sinus. Patients may present with nasal fullness, obstruction, and/or epistaxis." "" + "obsolete acromegaly" "" "true" + "protein S deficiency" "Protein S deficiency is a disorder that causes abnormal blood clotting. When someone bleeds, the blood begins a complicated series of rapid chemical reactions involving proteins called blood coagulation factors to stop the bleeding. Other proteins in the blood, such as protein S, usually regulate these chemical reactions to prevent excessive clotting. When protein S is missing (deficient), clotting may not be regulatednormally and affected individuals havean increased risk of forming a blood clot called a thrombosis. People at risk to haveprotein S deficiencyare those with an individual or family history of multiple blood clots in the veins. Treatment may include taking medication known as blood thinners to decrease the chance of developing a blood clot." "" + "angular blepharoconjunctivitis" "A blepharoconjunctivitis that is characterized by fissuring, scaling, maceration and erythema of the lateral or medial canthal area." "" + "giant papillary conjunctivitis" "Conjunctivitis that is associated with contact lens wear, and which is characterized by giant papillae in the tarsal conjunctiva." "" + "papillary conjunctivitis" "Conjunctivitis that is characterized by the formation of papillae on the palpebral conjunctiva." "" + "anterior dislocation of lens" "" + "disease of central nervous system or retinal vasculature" "" + "vernal conjunctivitis" "Inflammation of the cornea that is seasonal in nature." "" + "obsolete hereditary spastic paraplegia" "" "true" + "motor peripheral neuropathy" "Inflammation or degeneration of the peripheral motor nerves." "" + "central nervous system origin vertigo" "An illusion of movement, either of the external world revolving around the individual or of the individual revolving in space. Vertigo may be associated with disorders of the inner ear (ear, inner); vestibular nerve; brainstem; or cerebral cortex. Lesions in the temporal lobe and parietal lobe may be associated with focal seizures that may feature vertigo as an ictal manifestation. (From Adams et al., Principles of Neurology, 6th ed, pp300-1)" "" + "trachea leiomyoma" "A benign smooth muscle neoplasm arising from the trachea. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern." "" + "benign neoplasm of trachea" "A benign neoplasm that involves the trachea." "" + "sensory peripheral neuropathy" "Inflammation or degeneration of the sensory nerves." "" + "cherry hemangioma" "A capillary hemangioma of the skin, presenting as a red papular lesion." "" + "capillary hemangioma" "A common hemangioma characterized by the presence of capillary-sized vascular channels without prominent epithelioid endothelial cells." "" + "obsolete enamel erosion" "" "true" + "intracranial cavernous angioma" "A cavernous hemangioma arising from the brain and meninges." "" + "intracranial hemangioma" "A hemangioma arising from the brain and meninges." "" + "benign neoplasm of brain" "A benign neoplasm that involves the brain." "" + "alcoholic psychosis" "A group of mental disorders associated with organic brain damage and caused by poisoning from alcohol." "" + "nephrosis" "Pathological processes of the KIDNEY without inflammatory or neoplastic components. Nephrosis may be a primary disorder or secondary complication of other diseases. It is characterized by the NEPHROTIC SYNDROME indicating the presence of PROTEINURIA and HYPOALBUMINEMIA with accompanying EDEMA." "" + "splenic abscess" "An abscess that is located in the spleen." "" + "hematopoietic and lymphoid system neoplasm" "Neoplasms of the hematopoietic system, including hematopoietic cell neoplasms (e.g. leukemias, lymphomas) and non-hematopoietic cell neoplasms that can affect the hematopoietic system (e.g. lymph node and splenic sarcomas). --2003" "" + "chronic inflammatory demyelinating polyneuritis" "An immunologic inflammatory disorder characterized by loss of myelin in the peripheral nerves. Patients present with progressive weakness and loss of sensory function in the legs and arms." "" + "demyelinating polyneuropathy" "Polyneuropathy that is characterized by demyelination of axons." "" + "chronic polyneuropathy" "Polyneuropathy that is persistent or long-standing in nature." "" + "intra-abdominal hemangioma" "A hemangioma arising from organs within the abdominal cavity." "" + "extratemporal epilepsy" "An epilepsy syndrome that is located in an area of the brain other than the temporal lobe." "" + "obsolete hemangioma" "" "true" + "tactile epilepsy" "" + "granulomatous angiitis" "Inflammation of the arteries that is characterized by the presence of granulomas." "" + "chondromalacia" "Pathological processes involving the chondral tissue (cartilage)." "" + "articular cartilage disease" "A disease involving the articular cartilage of joint." "" + "splenic hemangioma" "A hemangioma arising from the spleen." "" + "benign neoplasm of spleen" "A benign neoplasm that involves the spleen." "" + "obsolete corneal dystrophy" "" "true" + "obsolete malignant histiocytic disease" "" "true" + "barbiturate dependence" "A drug dependence that involves the continued use of barbiturates despite problems related to use of the substance." "" + "drug dependence" "Drug dependence - replaced the term \"drug addiction\" and is defined as a state, psychic and sometimes also physical, resulting from the interaction between a living organism and a drug, characterized by behavioral and other responses that always include a compulsion to take the drug on a continuous or periodic basis in order to experience its psychic effects, and sometimes to avoid the discomfort of its absence. Tolerance may or may not be present. A person may be dependent on more than one drug." "" + "obsolete chondrodysplasia punctata" "" "true" + "obsolete agammaglobulinemia" "" "true" + "familial nephrotic syndrome" "An instance of nephrotic syndrome that is caused by an inherited modification of the individual's genome." "" + "nephrotic syndrome" "A collection of symptoms that include severe edema, proteinuria, and hypoalbuminemia; it is indicative of renal dysfunction." "" + "glottis cancer" "A malignant neoplasm that affects the glottic area of the larynx. The vast majority of cases represent squamous cell carcinomas." "" + "glottis neoplasm" "A benign or malignant neoplasm that affects the glottic area of the larynx." "" + "glottis carcinoma" "A carcinoma that arises from epithelial cells of the glottis." "" + "laryngeal carcinoma" "Carcinoma that arises from the laryngeal epithelium. More than 90% of laryngeal carcinomas are squamous cell carcinomas. The remainder are adenoid cystic carcinomas, mucoepidermoid carcinomas and carcinomas with neuroendocrine differentiation." "" + "hepatic flexure cancer" "A malignant neoplasm involving the hepatic flexure of colon." "" + "periosteal chondroma" "A benign neoplasm of bone surface composed of hyaline cartilage. It arises beneath the periosteum and is characterized by the presence of chondrocytes, a lobulated growth pattern, and calcification." "" + "connective tissue neoplasm" "Neoplasms composed of connective tissue, including elastic, mucous, reticular, osseous, and cartilaginous tissue. The concept does not refer to neoplasms located in connective tissue." "" + "benign chondrogenic neoplasm" "A non-metastasizing cartilaginous matrix-producing neoplasm characterized by the presence of neoplastic chondrocytes. Representative examples include osteochondroma and chondroma." "" + "transverse colon cancer" "A malignant neoplasm involving the transverse colon." "" + "serous surface papilloma" "A non-invasive papillary serous epithelial neoplasm usually arising from the ovary." "" + "papillary epithelial neoplasm" "" + "obsolete Wolffian duct adenoma" "" "true" + "kidney hemangiopericytoma" "A hemangiopericytoma arising from the kidney." "" + "hemangiopericytoma" "An antiquated term that refers to benign or malignant mesenchymal neoplasms characterized by the presence of neoplastic spindle-shaped to round cells arranged around thin-walled branching vascular spaces." "" + "kidney neoplasm" "A benign or malignant neoplasm affecting the kidney. Representative examples of benign renal neoplasms include fibroma, lipoma, oncocytoma, and juxtaglomerular cell tumor. Representative examples of malignant renal neoplasms include renal cell carcinoma, renal pelvis carcinoma, Wilms tumor, rhabdoid tumor, sarcoma, and lymphoma." "" + "kidney cancer" "Primary or metastatic malignant neoplasm involving the kidney." "" + "papillary serous cystadenocarcinoma" "A malignant cystic serous epithelial neoplasm characterized by the presence of malignant glandular epithelial cells forming papillary structures. Stromal invasion is present." "" + "papillary cystadenocarcinoma" "A malignant cystic serous or mucinous epithelial neoplasm characterized by the presence of malignant glandular epithelial cells forming papillary structures. Stromal invasion is present." "" + "serous cystadenocarcinoma" "A malignant serous cystic neoplasm usually involving the ovary or the pancreas. It is characterized by the presence of invasive malignant glandular epithelial cells which often form papillary structures." "" + "cystadenoma" "A benign or borderline cystic epithelial neoplasm arising from the glandular epithelium. The epithelial cells line the cystic spaces which contain serous or mucinous fluid. Representative examples include ovarian and pancreatic cystadenomas." "" + "cystic neoplasm" "A benign or malignant neoplasm that contains a single or multiple cystic spaces. Examples include cystadenoma, mucinous cystadenocarcinoma, and serous cystadenocarcinoma." "" + "ovarian Brenner tumor" "A benign, borderline, or malignant transitional cell neoplasm arising from the ovary. It constitutes between 1% and 2% of all ovarian neoplasms. The average age at presentation is about 50 years. Grossly it is usually unilateral, firm and white or yellowish. Microscopically it consists of solid and cystic nests of epithelial cells resembling transitional epithelium surrounded by an abundant stromal component of dense, fibroblastic nature." "" + "Brenner tumor" "A usually benign tumor composed of solid and cystic nests of epithelial cells resembling transitional epithelium; it is surrounded by an abundant stromal component that is dense and fibroblastic in nature." "" + "breast pericanalicular fibroadenoma" "A morphologic variant of breast fibroadenoma without clinical significance. It is characterized by circumferential proliferation of stromal cells around the ducts. This results in the formation of rounded ductal-epithelial structures." "" + "ovarian monodermal and highly specialized teratoma" "A teratoma of the ovary composed exclusively or predominantly of a single type of tissue derived from the ectoderm or endoderm. A representative example is struma ovarii which is a teratoma composed exclusively or predominantly of thyroid tissue." "" + "ovarian monodermal teratoma" "A teratoma that arises from the ovary and is characterized by the presence of tissues derived exclusively from one embryonic germ cell layer." "" + "mesothelioma" "A usually malignant and aggressive neoplasm of the mesothelium which is often associated with exposure to asbestos." "" + "obsolete parachordoma" "" "true" + "sebaceous adenoma" "A benign, well circumscribed neoplasm arising from the sebaceous glands. It usually presents as a small yellowish tumor in the sun exposed skin of head and neck. It is characterized by the presence of sebaceous cells aggregates with a peripheral rim of basaloid cells." "" + "sebaceous gland neoplasm" "A benign or malignant neoplasm that arises from the sebaceous glands. Representative examples include sebaceous adenoma and sebaceous carcinoma." "" + "epithelial skin neoplasm" "A epithelial neoplasm that involves the zone of skin." "" + "spleen angiosarcoma" "A malignant vascular neoplasm arising from the spleen." "" + "angiosarcoma" "A malignant tumor arising from the endothelial cells of the blood vessels. Microscopically, it is characterized by frequently open vascular anastomosing and branching channels. The malignant cells that line the vascular channels are spindle or epithelioid and often display hyperchromatic nuclei. Angiosarcomas most frequently occur in the skin and breast. Patients with long-standing lymphedema are at increased risk of developing angiosarcoma." "" + "spleen cancer" "A malignant neoplasm involving the spleen" "" + "breast intracanalicular fibroadenoma" "A morphologic variant of breast fibroadenoma without clinical significance. It is characterized by distortion and compression of the ducts by proliferating stromal cells." "" + "cystic teratoma" "" + "teratoma" "A non-seminomatous germ cell tumor characterized by the presence of various tissues which correspond to the different germinal layers (endoderm, mesoderm, and ectoderm). It occurs in the testis, ovary, and extragonadal sites including central nervous system, mediastinum, lung, and stomach. According to the level of differentiation of the tissues which comprise the tumor, teratomas are classified as mature or immature. Mature teratomas are composed of well differentiated, adult-type tissues. Immature teratomas are composed of immature, fetal-type tissues. Testicular teratomas in children follow a benign clinical course. Mature ovarian teratomas without a fetal-type component have an excellent outcome. The prognosis of immature ovarian teratomas is related to the grade and stage of the tumor." "" + "myoepithelial tumor" "A benign or malignant tumor characterized by the presence of cells that show myoepithelial differentiation. Based on its morphologic features, it is classified as benign or malignant. A representative example of benign myoepithelioma is benign salivary gland myoepithelioma. Representative examples of malignant myoepithelioma or myoepithelial carcinoma are malignant breast myoepithelioma and salivary gland myoepithelial carcinoma." "" + "sweat gland disease" "A disease involving the sweat gland." "" + "benign mesenchymoma" "A term describing a benign soft tissue tumor which consists of two or more mesenchymal lines of differentiation, excluding a fibroblastic line of differentiation." "" + "mesenchymoma" "A term describing a soft tissue tumor which consists of two or more mesenchymal lines of differentiation, excluding a fibroblastic line of differentiation." "" + "Pacinian tumor" "A neurofibroma characterized by the presence of structures which resemble Vater-Pacini corpuscles." "" + "obsolete transitional cell carcinoma" "" "true" + "benign cystic nephroma" "A benign encapsulated neoplasm of the kidney, characterized by the presence of cysts separated by septa. There are no solid areas present. The septa are lined by one layer of epithelial cells that have eosinophilic or clear cytoplasm. The cystic spaces contain serous or hemorrhagic fluid." "" + "mixed epithelial stromal tumor of the kidney" "A rare, usually benign neoplasm that arises from the kidney. It usually affects females. It is characterized by the presence of a biphasic pattern with tubular and cystic structures in a spindle cell stroma. Patients usually present with flank pain and hematuria." "" + "mixed epithelial stromal tumor" "" + "liver angiosarcoma" "A malignant vascular neoplasm arising from the liver." "" + "liver sarcoma" "A malignant soft tissue neoplasm that arises from the liver. Representative examples include angiosarcoma, undifferentiated (embryonal) sarcoma, rhabdomyosarcoma, and leiomyosarcoma." "" + "intracystic papillary adenoma" "A papillary epithelial neoplasm arising in a cystically dilated breast duct." "" + "intraductal breast papilloma" "A benign papillary neoplasm that arises anywhere in the ductal system of the breast. It is characterized by fibrovascular structures lined by benign epithelial and myoepithelial proliferations. Intraductal breast papillomas are classified as central, when they arise in large ducts, or peripheral, when they arise in the terminal ductal lobular units." "" + "obsolete adenofibroma" "" "true" + "obsolete ossifying fibromyxoid tumor" "" "true" + "obsolete skin sarcoma" "" "true" + "obsolete lymphangiosarcoma" "" "true" + "" "true" + "benign muscle neoplasm" "A benign mesenchymal neoplasm arising from smooth, skeletal, or cardiac muscle tissue." "" + "obsolete Leydig cell tumor" "" "true" + "renal adenoma" "An adenoma arising from the renal cortex." "" + "nephrogenic adenofibroma" "A benign, solitary, and partially cystic neoplasm arising from the kidney. It occurs in children and adults. Presenting symptoms include hematuria and polycythemia. It is characterized by the presence of epithelial nodules embedded in a stroma containing spindle cells." "" + "fibroepithelial neoplasm" "A benign, borderline, or malignant neoplasm characterized by the presence of an epithelial and a fibrous component. Representative examples are fibroadenoma and phyllodes tumor." "" + "liver cancer" "An epithelial or non-epithelial malignant neoplasm that arises from the liver. Representative examples include hepatocellular carcinoma, intrahepatic cholangiocarcinoma, lymphoma, and sarcoma." "" + "mucinous adenofibroma" "A benign adenofibroma characterized by the presence of epithelial cells which contain intracytoplasmic mucin and a fibrotic stroma. A representative example is the ovarian mucinous adenofibroma. Cases with epithelial atypia described in the ovary lacking stromal invasion are designated as borderline mucinous adenofibromas and have a low grade malignant potential." "" + "adenofibroma" "A benign neoplasm characterized by the presence of connective tissue stroma and epithelial structures. It occurs in the ovary, fallopian tube, uterine corpus, and cervix. Cases of adenofibroma of the ovary with low grade malignant potential have also been reported." "" + "tenosynovial giant cell tumor, localized type" "A well-circumscribed, lobulated tumor, completely or partially covered by a fibrous capsule. It usually arises in the fingers. It is characterized by the presence of mononuclear cells, multinucleated osteoclast-like giant cells, hemosiderin-laden macrophages, foam cells, and an inflammatory infiltrate. The tumor is slow-growing, usually developing over several years. Clinical presentation includes painless edema of the affected site." "" + "tenosynovial giant cell tumor" "A tumor usually arising in the synovium of joints, bursa or tendon sheath. It is characterized by the presence of mononuclear cells, multinucleated osteoclast-like giant cells, hemosiderin-laden macrophages, foam cells, and an inflammatory infiltrate. According to the growth pattern, it is classified as localized or diffuse." "" + "benign synovial neoplasm" "A benign neoplasm arising from the synovial membrane. Examples include the diffuse giant cell tumor of tendon sheath and localized giant cell tumor of tendon sheath." "" + "malignant tenosynovial giant cell tumor" "An uncommon malignant tumor arising from the tendon sheath. Morphologically, it is characterized by the presence of a cellular infiltrate reminiscent of a giant cell tumor with prominent malignant characteristics. Recurrent giant cell tumors with a sarcomatous dedifferentiation are included in this category as well." "" + "malignant giant cell tumor" "A malignant neoplasm characterized by then presence of atypical giant cells." "" + "synovium cancer" "A cancer that involves the layer of synovial tissue." "" + "synovium neoplasm" "A benign or malignant soft tissue neoplasm arising exclusively from the synovial membrane. Examples include the diffuse giant cell tumor of tendon sheath, localized giant cell tumor of tendon sheath, and malignant giant cell tumor of tendon sheath." "" + "liver hemangioma" "A hemangioma arising from the liver." "" + "congenital hemangioma" "A hemangioma present and fully formed at birth. The different types are Rapidly involuting congenital hemangiomas (RICH), Partially involuting congenital hemangioma (PICH) and Non-involuting congenital hemangiomas (NICH)." "" + "hereditary hyperbilirubinemia" "An inherited disorder affecting the metabolism of bilirubin. It results in increased levels of bilirubin in the blood. Representative examples of this condition include Gilbert syndrome and Crigler-Najjar syndrome." "" + "hyperbilirubinemia" "A disease characterized by elevated level of the pigment bilirubin in the blood." "" + "inborn disorder of bilirubin metabolism" "An instance of bilirubin metabolism disease that is caused by an inherited modification of the individual's genome." "" + "pyeloureteritis cystica" "" + "pyelitis" "Inflammation of the renal pelvis." "" + "narcissistic personality disorder" "A disorder characterized by an enduring pattern of grandiose beliefs and arrogant behavior together with an overwhelming need for admiration and a lack of empathy for (and even exploitation of) others." "" + "glycogen storage disease" "An inherited metabolic disorder characterized either by defects in glycogen synthesis or defects in the breaking down of glycogen. It results either in the creation of abnormal forms of glycogen or accumulation of glycogen in the tissues." "" + "inborn carbohydrate metabolic disorder" "An acquired metabolic disease that is has its basis in the disruption of carbohydrate metabolic process." "" + "inborn disorder of energy metabolism" "An acquired metabolic disease that is has its basis in the disruption of generation of precursor metabolites and energy." "" + "glycogen storage disease I" "Glycogenosis due to glucose-6-phosphatase (G6P) deficiency or glycogen storage disease, (GSD), type 1, is a group of inherited metabolic diseases, including types a and b, and characterized by poor tolerance to fasting, growth retardation and hepatomegaly resulting from accumulation of glycogen and fat in the liver." "" + "nephropathy secondary to a storage or other metabolic disease" "" + "gastric hemangioma" "A hemangioma arising from the stomach." "" + "ethmoid sinus squamous cell carcinoma" "A squamous cell carcinoma that arises from the mucosal epithelial surface of the ethmoid sinus. Patients may present with nasal fullness, obstruction, and/or epistaxis." "" + "obsolete ethmoid sinus adenoid cystic carcinoma" "" "true" + "ethmoid sinus adenocarcinoma" "A carcinoma that arises from glandular epithelial cells of the epithelial cell" "" + "transient tic disorder" "A neurological disorder presenting in childhood that is characterized by motor and/or phonic tics that occur daily or nearly daily for one to twelve months and are not attributed to an identifiable cause." "" + "obsolete chorioangioma" "" "true" + "adamantinoma" "A low grade malignant neoplasm arising from the long bones. The tibia is the most frequently affected bone site. Patients present with swelling which may or may not be associated with pain. Morphologically, it is characterized by a biphasic pattern consisting of an epithelial and an osteofibrous component. The vast majority of cases recur if they are not treated with radical surgery. In a minority of cases the tumor may metastasize to other anatomic sites including lymph nodes, lungs, liver, brain, and skeleton." "" + "obsolete inherited syndrome with bone tumors as a major feature" "True" "true" + "rectosigmoid junction neoplasm" "A benign or malignant neoplasm that affects the rectosigmoid region. Representative examples of benign neoplasms include lipoma and leiomyoma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and sarcoma. Rectosigmoid adenomas always exhibit epithelial dysplasia and are considered premalignant neoplasms." "" + "rectosigmoid carcinoma" "A malignant epithelial neoplasm that arises from the rectosigmoid area and invades through the muscularis mucosa into the submucosa. The vast majority are adenocarcinomas. About 50% of colorectal carcinomas occur in the rectosigmoid area." "" + "rectosigmoid junction cancer" "A primary or metastatic malignant neoplasm that affects the rectosigmoid area. Representative examples include carcinoma, lymphoma, and sarcoma." "" + "lung sarcoma" "A malignant mesenchymal neoplasm that arises from the lung. Representative examples include Kaposi sarcoma, leiomyosarcoma, and synovial sarcoma." "" + "lung cancer" "A malignant neoplasm involving the lung." "" + "idiopathic interstitial pneumonia" "A class of diffuse lung diseases that typically affect the pulmonary interstitium, although some also have a component affecting the airways (for instance, Cryptogenic organizing pneumonitis)." "" + "primary interstitial lung disease specific to adulthood" "" + "obsolete acute interstitial pneumonia" "" "true" + "obsolete nonspecific interstitial pneumonia" "" "true" + "malignant neoplasm of acoustic nerve" "A malignant neoplasm involving the vestibulocochlear nerve." "" + "malignant cranial nerve neoplasm" "Abnormal malignant growth of the cells that comprise the cranial nerve." "" + "auditory system cancer" "A malignant neoplasm involving the auditory system" "" + "vestibulocochlear nerve neoplasm" "A neoplasm (disease) that involves the vestibulocochlear nerve." "" + "oculomotor nerve cancer" "A cancer involving a oculomotor nerve." "" + "oculomotor nerve neoplasm" "A neoplasm involving a oculomotor nerve." "" + "dehydration polycythemia" "Polycythemia resulting from dehydration." "" + "acquired secondary polycythemia" "An instance of secondary polycythemia that is acquired during the lifetime of the individual." "" + "acquired polycythemia" "An instance of polycythemia that is acquired during the lifetime of the individual." "" + "obsolete stress polycythemia" "" "true" + "erythropoietin polycythemia" "Polycythemia that is caused by excess erythropoietin." "" + "Jervell and Lange-Nielsen syndrome" "An autosomal recessive inherited syndrome caused by mutations in the KCNE1 and KCNQ1 genes. It is characterized by congenital hearing loss and arrhythmia. It is a form of long QT syndrome." "" + "familial long QT syndrome" "A hereditary cardiac disease characterized by a prolongation of the QT interval at basal ECG and by a high risk of life-threatening arrhythmias." "" + "syndromic genetic hearing loss" "" + "long QT syndrome" "A condition that is characterized by episodes of fainting (syncope) and varying degree of ventricular arrhythmia as indicated by the prolonged QT interval. The inherited forms are caused by mutation of genes encoding cardiac ion channel proteins. The two major forms are Romano-Ward syndrome (also known as long QT syndrome 1) and Jervell-Lange Nielsen syndrome." "" + "torsades de pointes" "A malignant form of polymorphic ventricular tachycardia that is characterized by heart rate between 200 and 250 beats per minute, and qrs complexes with changing amplitude and twisting of the points. The term also describes the syndrome of tachycardia with prolonged ventricular repolarization, long qt intervals exceeding 500 milliseconds or bradycardia. Torsades de pointes may be self-limited or may progress to ventricular fibrillation." "" + "bruxism" "Excessive clenching of the jaw and grinding of the teeth." "" + "sleep-wake disorder" "Abnormal sleep-wake schedule or pattern associated with the circadian rhythm which affect the length, timing, and/or rigidity of the sleep-wake cycle relative to the day-night cycle." "" + "melancholia" "A subtype of depression characterized by the inability to find pleasure in positive things combined with physical agitation, insomnia, or decreased appetite." "" + "obsolete hemoglobin c disease" "" "true" + "obsolete hemoglobinopathy" "" "true" + "uterine carcinoma" "A carcinoma involving a uterus." "" + "endometrial cancer" "Primary or metastatic malignant neoplasm involving the endometrium (mucous membrane that lines the endometrial cavity)." "" + "laryngeal sarcoma" "A rare malignant soft tissue neoplasm that arises from the larynx." "" + "nodular degeneration of cornea" "" + "prostatic adenoma" "Focal benign glandular hyperplasia in the prostate gland." "" + "benign neoplasm of prostate" "A benign neoplasm that involves the prostate gland." "" + "benign prostate phyllodes tumor" "A rare benign neoplasm that arises from the prostate gland and is characterized by the presence of hyperplastic glands and stroma that contains spindle-shaped cells." "" + "benign phyllodes tumor" "A benign, circumscribed fibroepithelial neoplasm arising from the breast and rarely the prostate gland. It is characterized by the presence of epithelial structures which are arranged in clefts and by a hypercellular mesenchymal stroma which is organized in leaf-like structures. There is no evidence of cellular atypia or sarcomatous features." "" + "prostate leiomyoma" "A benign smooth muscle neoplasm arising from the prostate. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern." "" + "thyroid adenoma" "A adenoma that involves the thyroid gland." "" + "exocervical carcinoma" "A carcinoma that arises from the squamous epithelium of the exocervix." "" + "cervical carcinoma" "A carcinoma arising from either the exocervical squamous epithelium or the endocervical glandular epithelium. The major histologic types of cervical carcinoma are: squamous carcinoma, adenocarcinoma, adenosquamous carcinoma, adenoid cystic carcinoma and undifferentiated carcinoma." "" + "obsolete cervix carcinoma" "" "true" + "Treacher-Collins syndrome" "Treacher-Collins syndrome is a congenital disorder of craniofacial development characterized by bilateral symmetrical oto-mandibular dysplasia without abnormalities of the extremities, and associated with several head and neck defects." "" + "syndromic developmental defect of the eye" "A developmental defect of the eye that is part of a larger syndrome." "True" + "branchial arch or oral-acral syndrome" "" + "mandibulofacial dysostosis" "A hereditary disorder occurring in two forms: the complete form (Franceschetti's syndrome) is characterized by antimongoloid slant of the palpebral fissures, coloboma of the lower lid, micrognathia and hypoplasia of the zygomatic arches, and microtia. It is transmitted as an autosomal trait. The incomplete form (Treacher Collins syndrome) is characterized by the same anomalies in less pronounced degree. It occurs sporadically, but an autosomal dominant mode of transmission is suspected. (Dorland, 27th ed)" "" + "genetic syndromic Pierre Robin syndrome" "" + "genetic otorhinolaryngologic disease" "An instance of otorhinolaryngologic disease that is caused by a modification of the individual's genome." "" + "syndromic palpebral coloboma" "" + "eyelids malposition disorder" "" + "malposition of external canthus" "" + "syndrome with a symptomatic strabismus" "True" + "genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability" "An instance of multiple congenital anomalies/dysmorphic syndrome without intellectual disability that is caused by an inherited modification of the individual's genome." "" + "obsolete eyebrow/eyelashes distichiasis" "" "true" + "obsolete acute pancreatitis" "" "true" + "type IV hypersensitivity disease" "A disease that has its basis in the disruption of type IV hypersensitivity." "" + "membranoproliferative glomerulonephritis" "Inflammation of the glomeruli characterized by deposits at the intraglomerular mesangium, resulting in thickening of the glomerular basement membrane, activation of complement, and impaired kidney function secondary to damaged glomeruli." "" + "lacrimal gland carcinoma" "A carcinoma that arises from epithelial cells of the lacrimal gland." "" + "lacrimal gland cancer" "A malignant neoplasm involving the lacrimal gland." "" + "lacrimal gland neoplasm" "A neoplasm (disease) that involves the lacrimal gland." "" + "bronchiolitis" "Inflammation of the bronchioles characterized by swelling of the bronchioles and mucus accumulation. It is usually caused by the respiratory syncytial virus and affects children. Signs and symptoms include coughing, wheezing, and shortness of breath." "" + "disease of ear" "A disease that involves the ear." "" + "hyperimmunoglobulin syndrome" "" + "lacrimal gland carcinoma ex pleomorphic adenoma" "A carcinoma arising in a pre-existing pleomorphic adenoma in the lacrimal gland." "" + "carcinoma ex pleomorphic adenoma" "A carcinoma arising in a pre-existing pleomorphic adenoma. It most often occurs in the parotid gland and less often in the submandibular gland and minor salivary gland. Patients usually present with a history of a long-standing mass which recently had undergone rapid growth. The prognosis depends on the invasiveness of the malignant component. Patients with non-invasive or minimally invasive tumors usually have a good prognosis following surgical resection. Invasive tumors are usually aggressive and are associated with recurrences and metastases." "" + "photosensitive trichothiodystrophy" "A trichothiodystrophy that is photosensitive, and caused by defects in the NER pathway" "" + "trichothiodystrophy" "Trichothiodystrophy or TTD is a heterogeneous group disorders characterized by short, brittle hair with low-sulphur content (due to an abnormal synthesis of the sulphur containing keratins)." "" + "DNA repair disease" "A disease that has its basis in the disruption of DNA repair." "" + "synovial bursa disease" "A disease or disorder that involves the synovial bursa." "" + "malignant mixed neoplasm" "A malignant neoplasm composed of a carcinomatous epithelial component and a sarcomatous mesenchymal component. Representative examples include malignant mixed mesodermal (Mullerian) tumor of the female reproductive system and carcinosarcoma of the salivary gland and the lung." "" + "cystic kidney disease" "A congenital or acquired kidney disorder characterized by the presence of renal cysts." "" + "primary hyperoxaluria" "A hereditary disorder characterized by excessive oxalate production, leading to hyperoxaluria." "" + "disorder of glyoxylate metabolism" "" + "lacrimal gland adenocarcinoma" "A carcinoma that arises from glandular epithelial cells of the lacrimal gland" "" + "anuria" "Absence of urine output." "" + "prostate neuroendocrine neoplasm" "A neoplasm with neuroendocrine differentiation that arises from the prostate gland. This category includes carcinoid tumors and small cell carcinomas." "" + "mixed germ cell-sex cord-stromal tumor" "A biphasic neoplasm that arises from the ovary or the testis. It is characterized by the presence of neoplastic germ cells and neoplastic sex cord-stromal cells. It includes the gonadoblastoma and mixed germ cell-sex cord stromal tumor, unclassifiable." "" + "testicular sex cord-stromal neoplasm" "A benign or malignant tumor that arises from the testis. It is composed of granulosa cells, Leydig cells, Sertoli cells, and fibroblasts. Each of these cell types may constitute the only cellular component that is present in the tumor or it may be mixed with other cell types in various combinations. The prognosis can not always be predicted on histologic grounds alone. Approximately, ten percent of these tumors may metastasize. Representative examples include granulosa cell tumor, Leydig cell tumor, Sertoli cell tumor, and tumors of the thecoma-fibroma group." "" + "endometrioid tumor" "A benign, borderline, or malignant epithelial tumor of the female reproductive system characterized by the presence of glands and/or cysts lined by neoplastic cells that resemble endometrial cells." "" + "nipple neoplasm" "A benign or malignant neoplasm that arises in the area of the nipple." "" + "obsolete breast ductal carcinoma" "" "true" + "breast neuroendocrine neoplasm" "A neoplasm that arises from the breast and is composed of cells of neuroendocrine origin. Most cases are neuroendocrine carcinomas. Primary carcinoid tumors of the breast are very rare." "" + "lobular neoplasia" "A spectrum of non-invasive neoplastic lesions that arise from the terminal ductal lobular units of the breast. There is atypical small epithelial cell proliferation. Pagetoid involvement of the terminal ducts may or may not be present. In the minority of cases, there is a risk for subsequent development of invasive ductal or invasive lobular carcinoma." "" + "breast carcinoma in situ" "A in situ carcinoma that involves the breast." "" + "breast granular cell tumor" "A usually benign neoplasm that arises from the breast. It presents as a single, firm, and painless mass. It is characterized by the presence of neoplastic cells with eosinophilic granular cytoplasm." "" + "malignant breast phyllodes tumor" "A phyllodes tumor of the breast characterized by infiltrative margins and a sarcomatous stromal component. The sarcomatous stroma usually displays features of fibrosarcoma. Liposarcomatous, osteosarcomatous, or rhabdomyosarcomatous elements may also be present." "" + "breast phyllodes tumor" "A benign, malignant, or borderline circumscribed biphasic neoplasm that arises from the breast. It usually affects middle-aged women. It is characterized by the presence of a double layer of epithelial cells that are arranged in clefts, surrounded by a spindle cell mesenchymal (stromal) component." "" + "breast sarcoma" "A malignant mesenchymal neoplasm that arises from the breast. Representative examples include angiosarcoma, liposarcoma, leiomyosarcoma, rhabdomyosarcoma, and extraskeletal osteosarcoma." "" + "substance-related disorder" "A category of psychiatric disorders which include disorders related to the taking of a drug of abuse (including alcohol, prescribed medications and recreational drugs)." "" + "prostatic acinar adenocarcinoma" "An invasive adenocarcinoma of the prostate gland composed of secretory cells. It is the most common histologic type of prostate adenocarcinoma. Several morphologic variants exist, including atrophic, pseudohyperplastic, foamy gland, and oncocytic variants." "" + "acinar cell carcinoma" "A carcinoma that arises from epithelial cells of the acinar cell" "" + "prostate adenocarcinoma" "A carcinoma that arises from glandular epithelial cells of the prostate gland" "" + "colon signet ring cell adenocarcinoma" "An invasive adenocarcinoma of the colon characterized by the presence of malignant glandular epithelial cells which contain prominent intracytoplasmic mucin (signet ring cells). The signet ring cells constitute more than 50% of the malignant cells." "" + "signet ring cell carcinoma" "A usually aggressive, poorly differentiated invasive adenocarcinoma characterized by the presence of malignant glandular cells in which the nucleus is pressed to one side by the presence of intracytoplasmic mucus. It may arise from the stomach, small and large intestine, ampulla of Vater, appendix, gallbladder, pancreas, lung, bladder, breast, and prostate gland." "" + "colorectal signet ring cell carcinoma" "An invasive colorectal adenocarcinoma characterized by the presence of malignant glandular epithelial cells with prominent intracytoplasmic mucin resulting in the displacement of the nuclei. The malignant glandular cells with intracytoplasmic mucin constitute more than 50% of the malignant cellular infiltrate." "" + "submucosal invasive colon adenocarcinoma" "An adenocarcinoma of the colon that has invaded into the submucosa." "" + "invasive carcinoma" "A carcinoma that is not confined to the epithelium, and has spread to the surrounding stroma." "" + "obsolete food allergy" "Gastrointestinal disturbances, skin eruptions, or shock due to allergic reactions to allergens in food." "" "true" + "obsolete glioblastoma multiforme" "" "true" + "obsolete astrocytoma" "" "true" + "obsolete gliosarcoma" "" "true" + "brain glioblastoma" "A WHO grade IV malignant astrocytic tumor that arises from the brain, usually the cerebral hemispheres. It is characterized by the presence of poorly differentiated astrocytes, cellular polymorphism, nuclear atypia, and increased mitotic activity. The prognosis is poor." "" + "brain glioma" "A malignant glioma that involves the brain." "" + "obsolete giant cell glioblastoma" "" "true" + "adult astrocytic tumour" "An astrocytic tumor occurring during adulthood. Representative examples include diffuse astrocytoma, anaplastic astrocytoma, and glioblastoma." "" + "astrocytic tumor" "A glial tumor of the brain or spinal cord showing astrocytic differentiation. It includes the following clinicopathological entities: pilocytic astrocytoma, diffuse astrocytoma, anaplastic astrocytoma, pleomorphic xanthoastrocytoma, subependymal giant cell astrocytoma, and glioblastoma." "" + "obsolete grade III astrocytoma" "" "true" + "childhood astrocytic tumor" "An astrocytic tumor appearing before the age of twenty one without designation of benign or malignant nor designated location." "" + "childhood neoplasm" "A benign or malignant neoplasm arising during childhood." "" + "astrocytoma (excluding glioblastoma)" "A tumor of the brain or spinal cord showing astrocytic differentiation. It includes the following clinicopathological entities: pilocytic astrocytoma, diffuse astrocytoma, anaplastic astrocytoma, pleomorphic xanthoastrocytoma, and subependymal giant cell astrocytoma." "" + "obsolete early myoclonic encephalopathy" "" "true" + "gingival overgrowth" "Excessive growth of the gingiva either by an increase in the size of the constituent cells (gingival hypertrophy) or by an increase in their number (gingival hyperplasia). (From Jablonski's Dictionary of Dentistry, 1992, p574)" "" + "gingivitis" "A disorder involving inflammation of the gums; may affect surrounding and supporting structures of the teeth." "" + "stomatitis" "Inflammation of the oral mucosa due to local or systemic factors." "" + "non-specific granulomatous orchitis" "Granulomatous inflammation of the testis. It is characterized by the formation of granulomas around the seminiferous tubules. History of trauma may be present. It is assumed to be a reactive process due to autoimmune phenomena." "" + "orchitis" "Inflammation of one or both testes due to viral or bacterial infections. Signs and symptoms include enlargement or tenderness of the affected testis, inguinal lymphadenopathy, blood in the semen, and pain during urination, intercourse, or ejaculation." "" + "obsolete germ cell and embryonal cancer" "Neoplasms composed of primordial germ cells of embryonic gonads or of elements of the germ layers of the embryo, mammalian. The concept does not refer to neoplasms located in the gonads or present in an embryo or fetus." "" "true" + "stenosis of lacrimal sac" "" + "papillary adenocarcinoma" "A morphologic variant of adenocarcinoma. It is characterized by the presence of a papillary growth pattern. Representative examples include thyroid gland papillary carcinoma, invasive papillary breast carcinoma, and ovarian serous surface papillary adenocarcinoma." "" + "papillary carcinoma" "A malignant epithelial neoplasm characterized by a papillary growth pattern. A papillary carcinoma may be composed of glandular cells (papillary adenocarcinoma), squamous cells (papillary squamous cell carcinoma), or transitional cells (papillary transitional cell carcinoma). Bladder carcinoma is a representative example of papillary transitional cell carcinoma." "" + "hepatobiliary neoplasm" "A benign or malignant neoplasm that affects the liver parenchyma, bile ducts, and gallbladder. Representative examples of benign neoplasms include hepatocellular adenoma, bile duct adenoma, and gallbladder lipoma. Representative examples of malignant neoplasms include hepatocellular carcinoma, intrahepatic and extrahepatic cholangiocarcinoma, and gallbladder carcinoma." "" + "hepatobiliary disease" "A non-neoplastic or neoplastic disorder that affects the liver, bile ducts, and gallbladder. Representative examples of non-neoplastic disorders include hepatitis, cirrhosis, cholangitis, and cholecystitis. Representative examples of neoplastic disorders include hepatocellular adenoma, hepatocellular carcinoma, and cholangiocarcinoma." "" + "tenosynovitis of foot and ankle" "" + "gallbladder papillary neoplasm" "A non-invasive, papillary epithelial neoplasm that arises from the epithelium of the gallbladder. Intraepithelial neoplasia is present." "" + "gallbladder neoplasm" "A neoplasm (disease) that involves the gall bladder." "" + "porphyria" "Porphyria is a group of diseases in which substances called porphyrins build up, negatively affecting the skin or nervous system. Most types are inherited, but porphyria cutanea tarda may also be due to increased iron in the liver, hepatitis C, alcohol, or HIV/AIDS." "" + "obsolete rare hereditary metabolic disease with peripheral neuropathy" "True" "true" + "obsolete multiple symmetrical lipomatosis" "" "true" + "tendon sheath disorder" "A disease that involves the tendon sheath." "" + "pigmented villonodular synovitis" "Pigmented villonodular synovitis (PVNS) is a rare benign proliferative disorder of the synovial membrane primarily affecting young adults (with a peak age of onset in the second to fourth decade of life) characterized by proliferative, locally invasive tumor-like lesions, usually involving a single joint, tendon sheath or bursae (most commonly the joints of the knee and hip and rarely others such as the ankle, shoulder and temporomandibular joints). It presents with pain and limitation of motion along with swelling, heat and tenderness over the involved joint, eventually leading to arthritic degeneration and significant locomotor deficit, if left untreated. PVNS can recur in patients even after treatment." "" + "cutaneous mucinosis" "The mucinoses are a diverse group of disorders which have in common the deposition of basophilic, finely granular and stringy material (mucin) in the connective tissues of the dermis (dermal mucinoses), in the pilosebaceous follicles (follicular mucinoses), or in the epidermis and tumors derived therefrom (epithelial mucinoses)." "" + "obsolete hyperlipoproteinemia type III" "" "true" + "dermal unilateral segmental cavernous angioma" "" + "keratoacanthoma" "A dome-shaped, rapidly growing skin lesion composed of well differentiated squamous cells. It represents a proliferation of the infundibular epithelium of the hair follicle and its morphologic distinction from a well differentiated carcinoma may be difficult or impossible. Keratoacanthomas affect males more frequently than females and the majority tend to regress spontaneously. It has been suggested that keratoacanthoma represents a distinct subtype of squamous cell carcinoma of the skin." "" + "soft tissue neoplasm" "A benign, intermediate, or malignant neoplasm that arises from the soft tissue. The most common types are lipomatous (fatty), vascular, smooth muscle, fibrous, and fibrohistiocytic neoplasms." "" + "obsolete malignant spindle cell melanoma" "" "true" + "papillary adenoma" "An adenoma characterized by the presence of papillary epithelial patterns." "" + "fallopian tube papilloma" "A benign epithelial neoplasm that arises from the fallopian tube. It is characterized by the presence of fibrovascular stalks lined by serous epithelial cells." "" + "verrucous papilloma" "A benign epithelial neoplasm characterized by a papillary growth pattern, lack of significant cytologic atypia, and a wart-like appearance." "" + "skin papilloma" "A benign papillary neoplastic growth on the skin composed of epithelial cells and a fibrous stalk. It usually develops in the eyelid, axilla, neck, upper chest, and groin." "" + "inverted papilloma" "An endophytic benign papillary epithelial neoplasm that results from the invagination and proliferation of epithelial cells in the underlying stroma. Representative examples are the inverted urothelial papilloma that arises from the urinary tract and inverted Schneiderian papilloma that arises from the nasal cavity or paranasal sinuses." "" + "obsolete progressive muscular atrophy" "" "true" + "obsolete oligodendroglioma" "" "true" + "childhood oligodendroglioma" "An oligodendroglioma that arises from the central nervous system and occurs during childhood." "" + "childhood malignant neoplasm" "A malignant tumor that occurs in children. Representative examples include soft tissue and bone sarcomas (e.g. osteosarcoma) and embryonal neoplasms (e.g. hepatoblastoma and rhabdoid tumor)." "" + "spinal cord oligodendroglioma" "A oligodendroglioma that involves the spinal cord." "" + "spinal cord glioma" "A neoplasm that arises from glial cells in the spinal cord. Representative examples include astrocytoma, oligodendroglioma, and ependymoma." "" + "malignant glioma" "A grade III or grade IV glioma arising from the central nervous system. This category includes glioblastoma, anaplastic astrocytoma, anaplastic ependymoma, anaplastic oligodendroglioma, and anaplastic oligoastrocytoma." "" + "adult oligodendroglioma" "An oligodendroglioma occurring during adulthood." "" + "spinal cord disease" "A disease involving the spinal cord." "" + "benign peripheral nerve sheath tumor" "" + "low grade glioma" "A grade I or grade II glioma arising from the central nervous system. This category includes pilocytic astrocytoma, diffuse astrocytoma, subependymal giant cell astrocytoma, ependymoma, oligodendroglioma, oligoastrocytoma, and angiocentric glioma." "" + "cellular schwannoma" "A morphologic variant of schwannoma characterized by hypercellularity, Antoni A pattern, and the absence of well-formed Verocay bodies." "" + "schwannoma of twelfth cranial nerve" "A schwannoma that involves the hypoglossal nerve." "" + "hypoglossal nerve neoplasm" "A neoplasm involving a hypoglossal nerve." "" + "c-P angle neurinoma" "" + "cerebellopontine angle tumor" "A neoplasm that affects the cerebellopontine angle. Representative examples include vestibular schwannoma and meningioma." "" + "vascular myelopathy" "" + "sympathetic neurilemmoma" "A benign tumor derived from schwann cells of the peripheral sympathetic nervous system, including the sympathetic plexus." "" + "trigeminal schwannoma" "A schwannoma that involves the trigeminal nerve." "" + "microcystic/reticular schwannoma" "The rarest histopathologic subtype of Schwannoma. The reported cases have been located in the gastrointestinal submucosa or subcutaneous tissue. Morphologically it is characterized by the presence of a microcyst-rich network of spindle cells with minimal amount of cytoplasm and Antoni A tissue." "" + "obsolete schwannomatosis" "" "true" + "melanotic neurilemmoma" "A rare circumscribed, non-encapsulated and grossly pigmented nerve sheath tumor. It is composed of cells with the immunophenotypic and electron microscopic features of Schwann cells which contain melanosomes and are positive for melanoma markers. It usually involves spinal nerve roots but may occur in other locations. It may be associated with PRKAR1A gene mutation and Carney complex. Malignant behavior has been reported in a significant number of patients." "" + "plexiform schwannoma" "A schwannoma characterized by a plexiform or multinodular growth pattern. It usually arises from the skin or subcutaneous tissues in the extremities, trunk, and head and neck." "" + "obsolete junctional epidermolysis bullosa" "" "true" + "lysosomal storage disease" "A metabolic disorder caused by mutations in proteins critical for lysosomal function, including lysosomal enzymes, lysosomal integral membrane proteins, and proteins involved in the post-translational modification and trafficking of lysosomal proteins." "" + "demyelinating disease" "A broad group of disorders that affect the myelin sheaths that cover the neurons. Myelin sheathes cover neuronal axons in the central and peripheral nervous system and function to increase travelling impulse speeds. Disruption of this sheath impairs neuronal transmission and can result in disorders such as multiple sclerosis and Guillain-Barre syndrome, among others." "" + "jejunal somatostatinoma" "A somatostatin-producing neuroendocrine tumor that arises from the jejunum. It is characterized by the presence of tubulo-glandular structures." "" + "jejunal neuroendocrine tumor, well differentiated, low or intermediate grade" "A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the jejunum." "" + "jejunal neoplasm" "A benign or malignant neoplasm that affects the wall of the jejunum. Representative examples include adenoma, carcinoma, and lymphoma." "" + "myelitis" "An inflammatory process affecting the spinal cord. Causes include viral infections, autoimmune disorders, vascular disorders, and toxic agents. Symptoms include weakness, paresthesia, sensory loss, pain, and incontinence." "" + "encephalomyelitis" "Inflammation of the brain and the spinal cord." "" + "obsolete complex regional pain syndrome" "" "true" + "tracheal stenosis" "Narrowing of the lumen of the trachea." "" + "gastric dilatation" "Abnormal distention of the stomach due to accumulation of gastric contents that may reach 10 to 15 liters. Gastric dilatation may be the result of gastric outlet obstruction; ileus; gastroparesis; or denervation." "" + "high pressure neurological syndrome" "A syndrome related to increased atmospheric pressure and characterized by tremors, nausea, dizziness, decreased motor and mental performance, and seizures. This condition may occur in those who dive deeply (c. 1000 ft) usually while breathing a mixture of oxygen and helium. The condition is associated with a neuroexcitatory effect of helium." "" + "neoplasm of mature B-cells" "A neoplasm of follicle centre B cells which has at least a partial follicular pattern. Follicular lymphomas comprise about 35% of adult non-Hodgkin lymphomas in the U.S. and 22% worldwide. Most patients have widespread disease at diagnosis. Morphologically, follicular lymphomas are classified as Grade 1, Grade 2, and Grade 3, depending on the percentage of the large lymphocytes present. The vast majority of cases (70-95%) express the BCL-2 rearrangement [t(14;18)]. Histological grade correlates with prognosis. Grades 1 and 2 follicular lymphomas are indolent and grade 3 is more aggressive (adapted from WHO, 2001)." "" + "primary organ-specific lymphoma" "" + "Epstein-Barr virus-associated malignant lymphoproliferative disorder" "" + "aspiration pneumonitis" "Inflammation of the lungs due to the inhalation of solid or liquid material." "" + "pneumonitis" "An inflammatory process affecting the lung parenchyma. It is a milder form of lung inflammation compared to pneumonia." "" + "obsolete pleomorphic rhabdomyosarcoma" "" "true" + "prostate embryonal rhabdomyosarcoma" "A malignant mesenchymal neoplasm of the prostate. It is characterized by the presence of skeletal muscle exhibiting embryonic features." "" + "prostate rhabdomyosarcoma" "A malignant mesenchymal neoplasm with skeletal muscle differentiation affecting the prostate." "" + "obsolete prostate rhabdomyosarcoma" "" "true" + "embryonal extrahepatic bile duct rhabdomyosarcoma" "An embryonal rhabdomyosarcoma that arises from the extrahepatic bile ducts." "" + "extrahepatic bile duct rhabdomyosarcoma" "A malignant mesenchymal tumor with skeletal muscle differentiation, arising from the extrahepatic bile ducts." "" + "rhabdomyosarcoma" "A rare aggressive malignant mesenchymal neoplasm arising from skeletal muscle. It usually occurs in children and young adults. Only a small percentage of tumors arise in the skeletal muscle of the extremities. The majority arise in other anatomical sites." "" + "liver rhabdomyosarcoma" "A malignant mesenchymal tumor with skeletal muscle differentiation affecting the liver." "" + "extrahepatic bile duct sarcoma" "A malignant soft tissue neoplasm that arises from the extrahepatic bile ducts. Representative examples include Kaposi sarcoma, leiomyosarcoma, and rhabdomyosarcoma." "" + "botryoid rhabdomyosarcoma" "A morphologic variant of embryonal rhabdomyosarcoma arising from organs with a mucosal epithelial surface. It is characterized by the formation of a cambium layer in the affected tissue and polypoid nodules within an abundant myxoid stroma." "" + "orbit embryonal rhabdomyosarcoma" "A malignant mesenchymal neoplasm that arises from the orbit. It is characterized by the presence of skeletal muscle tissue exhibiting embryonic features." "" + "orbit rhabdomyosarcoma" "A malignant mesenchymal neoplasm with skeletal muscle differentiation that arises from the orbit." "" + "orbit sarcoma" "A malignant soft tissue neoplasm that arises from the structures of the orbit. The majority of the cases are rhabdomyosarcomas." "" + "spindle cell rhabdomyosarcoma" "An uncommon variant of rhabdomyosarcoma characterized by the presence of whorls of spindle cells forming a storiform pattern. In children it usually arises in the paratesticular region. In adults it usually arises from the deep soft tissues in the head and neck." "" + "spindle cell sarcoma" "A malignant mesenchymal neoplasm composed of spindle-shaped cells. This is a morphologic term which can be applied to a wide range of sarcomas." "" + "subacute leukemia" "A leukemia that is in between acute and chronic leukemia and is characterized by a moderate duration or severity." "" + "mucinous ovarian cystadenoma" "A benign neoplasm of the ovary characterized by the presence of cystic structures lined by mucinous columnar epithelial cells." "" + "mucinous cystadenoma" "A benign or low malignant potential cystic epithelial neoplasm composed of cells which contain intracytoplasmic mucin. It may arise from the ovary, pancreas, appendix, and lung." "" + "ovarian cystadenoma" "A benign ovarian surface epithelial-stromal tumor characterized by the presence of cystic structures lined by serous epithelial cells, mucinous columnar epithelial cells, or endometrial-type well-differentiated cells." "" + "obsolete syringomyelia" "" "true" + "breast fibrocystic change, proliferative type" "Breast fibrocystic change characterized by the presence of epithelial cell hyperplasia. Epithelial atypia may be present or absent." "" + "breast fibrocystic disease" "Fibrosis associated with cyst formation in the breast parenchyma." "" + "thymus neoplasm" "A neoplasm that affects the thymus. Representative examples include thymoma and carcinoma." "" + "encapsulated thymoma" "A thymoma that is confined within the capsule and may display benign or malignant morphologic characteristics." "" + "thymoma" "A neoplasm arising from the epithelial cells of the thymus. Although thymomas are usually encapsulated tumors, they may invade the capsule and infiltrate the surrounding tissues or even metastasize to distant anatomic sites. The following morphologic subtypes are currently recognized: type A, type B, type AB, metaplastic, micronodular, microscopic, and sclerosing thymoma. Thymomas type B are further subdivided into types B1, B2, and B3. Thymoma type B3 usually has the most aggressive clinical course." "" + "thymoma type A" "A thymic epithelial neoplasm characterized by the presence of spindle and/or oval neoplastic epithelial cells. Lymphocytic infiltration is minimal or absent. It may be associated with myasthenia gravis or pure red cell aplasia. The majority of cases occur in the anterior mediastinum as Masaoka stage I tumors. Approximately 20% of the cases occur as stage II or stage III tumors. Type A thymoma generally behaves as a benign tumor and the overall survival is reported to be 100% at 5 and 10 years." "" + "obsolete thymoma type AB" "" "true" + "combined thymoma" "" + "obsolete dendritic cell thymoma" "" "true" + "invasive malignant thymoma" "A malignant thymoma that extends beyond the capsule and infiltrates the surrounding tissues." "" + "thymic carcinoma" "Thymic carcinoma (TC) is a type of thymic epithelial neoplasm characterized by a high malignant potential." "" + "obsolete thymic carcinoma" "" "true" + "monkeypox" "An infection that is caused by an Orthopoxvirus, which is transmitted by primates or rodents, and which is characterized by a prodromal syndrome of fever, chills, headache, myalgia, and lymphedema; initial symptoms are followed by a generalized papular rash that typically progresses from vesiculation through crusting over the course of two weeks." "" + "vaccinia" "The cutaneous and occasional systemic reactions associated with vaccination using smallpox (variola) vaccine." "" + "obsolete chordoma" "" "true" + "notochordal tumor" "A bone tumor arising from the remnants of the fetal notochord. This category includes the chordoma and benign notochordal cell tumor." "" + "embryonal neoplasm" "A usually malignant neoplasm composed of primitive (immature) tissues that resemble fetal tissues. Medulloblastoma, Ependymoblastoma, Pineoblastoma, and Wilms tumor are representative embryonal neoplasms. --2003" "" + "germinomatous germ cell tumor" "A term that refers to germinoma, seminoma, or dysgerminoma." "" + "teratocarcinoma" "A germ cell tumor characterized by the presence of an embryonal carcinoma component and a teratoma component." "" + "obsolete mixed germ cell cancer" "" "true" + "nongerminomatous germ cell tumor" "A term that refers to teratoma, embryonal carcinoma, yolk sac tumor, choriocarcinoma, or mixed forms of these tumors." "" + "angiomyolipoma" "A neoplasm with perivascular epithelioid cell differentiation often associated with tuberous sclerosis. It is characterized by a mixture of epithelioid cells, smooth muscle, vessels, and mature adipose tissue. The kidney is the most common site of involvement. Other sites of involvement include the liver, lung, lymph nodes, and retroperitoneum. The vast majority of cases follow a benign clinical course. However, cases of metastatic angiomyolipomas with sarcomatoid features have been described." "" + "neoplasm with perivascular epithelioid cell differentiation" "A soft tissue neoplasm composed of perivascular epithelioid cells. Representative examples include angiomyolipoma, clear cell-sugar-tumor of the lung, and lymphangioleiomyomatosis." "" + "pericytic neoplasm" "A benign or malignant mesenchymal neoplasm arising from the perivascular cells of the connective and soft tissues. It is characterized by the presence of pericytes that grow in a circumferential pattern around vessels." "" + "mesenchymal cell neoplasm" "A benign, intermediate, or malignant neoplasm that arises from the mesenchyma-derived cells of the soft tissue or bone. Representative examples include lipoma, leiomyoma, leiomyosarcoma and osteosarcoma." "" + "hepatic angiomyolipoma" "An angiomyolipoma arising from the liver." "" + "epithelioid type angiomyolipoma" "An angiomyolipoma composed exclusively or predominantly by polygonal epithelioid cells with eosinophilic cytoplasm, often associated with cytologic atypia." "" + "obsolete lymphangioleiomyomatosis" "" "true" + "obsolete gangliosidosis GM2" "" "true" + "obsolete gangliosidosis GM1" "" "true" + "obsolete benign epilepsy with centrotemporal spikes" "" "true" + "partial epilepsy" "A seizure caused by a localized disorder." "" + "histrionic personality disorder" "A disorder characterized by an enduring pattern of excessively intense and superficial emotionality, attention seeking behavior, seductive appearance and speech, self dramatization and/or theatrical behavior." "" + "xanthomatosis" "A condition marked by the development of widespread xanthomas, yellow tumor-like structures filled with lipid deposits. Xanthomas can be found in a variety of tissues including the skin; tendons; joints of knees and elbows. Xanthomatosis is associated with disturbance of lipid metabolism and formation of foam cells." "" + "xanthoma" "A non-neoplastic disorder characterized by a localized collection of histiocytes containing lipid. Xanthomas usually occur in the skin and subcutaneous tissues, but occasionally they may involve the deep soft tissues." "" + "bone angiosarcoma" "A high-grade malignant vascular neoplasm that arises from the bone. It is characterized by the presence of neoplastic cells with endothelial differentiation." "" + "vascular bone neoplasm" "A benign, intermediate, or malignant vascular neoplasm that arises from the bone." "" + "osteosarcoma" "A usually aggressive malignant bone-forming mesenchymal neoplasm, predominantly affecting adolescents and young adults. It usually involves bones and less frequently extraosseous sites. It often involves the long bones (particularly distal femur, proximal tibia, and proximal humerus). Pain with or without a palpable mass is the most frequent clinical symptom. It may spread to other anatomic sites, particularly the lungs." "" + "undifferentiated high grade pleomorphic sarcoma of bone" "A rare, high-grade pleomorphic malignant neoplasm arising from the bone. It usually presents with pain which may or may not be associated with swelling in the affected area. It is characterized by the presence of spindle-shaped cells, polygonal or epithelioid cells, multinucleated giant cells, and inflammatory cells. The neoplastic cells exhibit nuclear pleomorphism and high mitotic activity. It metastasizes frequently, most often in the lungs." "" + "bone fibrosarcoma" "A usually aggressive malignant neoplasm arising from the bone. It is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation in a herringbone growth pattern." "" + "fibrosarcoma" "A malignant mesenchymal fibroblastic neoplasm affecting the soft tissue and bone." "" + "localized osteosarcoma" "A non-disseminated osteosarcoma." "" + "extraosseous osteosarcoma" "An osteosarcoma arising from the soft tissue." "" + "multifocal osteogenic sarcoma" "A primary bone osteosarcoma affecting multiple bone sites." "" + "pediatric osteosarcoma" "An osteosarcoma occurring in childhood." "" + "bone leiomyosarcoma" "A rare aggressive malignant smooth muscle neoplasm, arising from the bone. It is characterized by a proliferation of neoplastic spindle cells." "" + "Ewing sarcoma of bone" "A small round cell bone tumor that lacks morphologic, immunohistochemical, and electron microscopic evidence of neuroectodermal differentiation. It represents one of the two ends of the spectrum called Ewing sarcoma/peripheral neuroectodermal tumor. It often affects the diaphysis or metaphyseal-diaphyseal portion of long bones. Clinical findings include pain and a mass in the involved area. fever, anemia, leukocytosis, and an increased sedimentation rate are often seen. X-ray examination reveals osteolytic lesions. The prognosis depends on the stage, anatomic location, and size of the tumor." "" + "Ewing sarcoma" "A small round cell tumor that lacks morphologic, immunohistochemical, and electron microscopic evidence of neuroectodermal differentiation. It represents one of the two ends of the spectrum called Ewing sarcoma/peripheral neuroectodermal tumor. It affects mostly males under age 20, and it can occur in soft tissue or bone. Pain and the presence of a mass are the most common clinical symptoms." "" + "Ewing sarcoma/peripheral primitive neuroectodermal tumor of bone" "A spectrum of malignant tumors arising from the bone and characterized morphologically by the presence of small round cells. Ewing sarcoma and peripheral primitive neuroectodermal tumor represent the ends of a spectrum, with Ewing sarcoma lacking evidence of neural differentiation and the markers that characterize the peripheral primitive neuroectodermal tumor. Ewing sarcoma and peripheral primitive neuroectodermal tumor may share cytogenetic abnormalities, proto-oncogene expression, cell culture and immunohistochemical abnormalities. Pain and the presence of a mass are the most common clinical symptoms." "" + "spinal accessory nerve neoplasm" "A neoplasm involving a accessory XI nerve spinal component." "" + "accessory nerve disease" "A disease involving the accessory XI nerve." "" + "chondroblastic osteosarcoma" "An osteosarcoma characterised by the presence of atypical cartilage of variable cellularity. It may or may not be associated with the presence of myxoid areas or focal bone formation." "" + "conventional osteosarcoma" "A high grade malignant bone-forming mesenchymal neoplasm producing osteoid. The tumor arises from the medullary portion of the bone. It affects the long bones and most commonly, the distal femur, proximal tibia, and proximal humerus. Pain with or without a palpable mass is the most common clinical presentation. It usually has an aggressive growth and may metastasize through the hematogenous route. The lung is the most frequent site of metastasis." "" + "peripheral osteosarcoma" "A usually aggressive malignant bone-forming mesenchymal neoplasm arising from the surface of the bone." "" + "bone osteosarcoma" "A usually aggressive malignant bone-forming mesenchymal neoplasm arising from the bone. It may arise de novo or from a pre-existing lesion of the bone. Pain and a palpable mass are the most frequent clinical sign and symptom. It may spread to other anatomic sites, particularly the lungs." "" + "small cell osteogenic sarcoma" "An osteosarcoma usually arising from the metaphysis of long bones. It is characterized by the presence of small cells and osteoid production. The prognosis is usually unfavorable." "" + "small cell sarcoma" "A sarcoma characterized by the presence of small round or elongated malignant cells with a small amount of cytoplasm." "" + "metachronous osteosarcoma of the bone" "A bone osteosarcoma that has metastasized to skeletal or extraskeletal sites." "" + "head and neck neoplasm" "A benign or malignant neoplasm that affects the anatomic structures of the head and neck region. Representative examples of benign neoplasms include salivary gland pleomorphic adenoma and nasal cavity papilloma. Representative examples of malignant neoplasms include oral cavity squamous cell carcinoma, laryngeal squamous cell carcinoma, and salivary gland carcinoma." "" + "liposarcoma of bone" "A very rare malignant adipose tissue neoplasm that arises from the bone." "" + "liposarcoma" "A usually painless malignant tumor that arises from adipose tissue. Microscopically, it may contain a spectrum of neoplastic adipocytes ranging from lipoblasts to pleomorphic malignant adipocytes. Morphologic variants include: well differentiated, dedifferentiated, pleomorphic, and myxoid liposarcoma. The metastatic potential is higher in less differentiated tumors." "" + "histiocytosis" "A morphologic finding indicating tissue infiltration by non-neoplastic or neoplastic histiocytes." "" + "optic nerve neoplasm" "Benign and malignant neoplasms which arise from or metastasize to the optic or second cranial nerve which extends from the optic disc of the eye and joins the optic chiasm. Clinical features may include visual loss, proptosis, and local pain. The majority of optic nerve tumors or optic gliomas." "" + "subclavian artery aneurysm" "A subclavian aneurysm is weakness or bulging in the wall of the subclavian artery, which is located below the collarbone. If the aneurysm ruptures, it can cause life-threatening, uncontrolled bleeding. Blood clots caused by the aneurysm can potentially lead to stroke or loss of fingers, the hand or, in rare cases, the entire arm." "" + "trochlear nerve neoplasm" "A neoplasm involving a trochlear nerve." "" + "vestibular disease" "Pathological processes of the vestibular labyrinth which contains part of the balancing apparatus. Patients with vestibular diseases show instability and are at risk of frequent falls." "" + "idiopathic granulomatous myositis" "" + "myositis" "An inflammatory disease involving a pathogenic inflammatory response in the muscle tissue." "" + "cerebritis" "Inflammation of the cerebrum." "" + "brain inflammatory disease" "An inflammatory disease involving a pathogenic inflammatory response in the brain." "" + "viral laryngitis" "Acute inflammation of the larynx caused by viruses, including rhinovirus, influenza virus, parainfluenza virus, and adenovirus." "" + "acute laryngitis" "An acute inflammatory process affecting the larynx. It is caused by bacteria, viruses, or vocal strain. Signs and symptoms include sore throat, cough, swallowing difficulties, and hoarseness." "" + "mammary Paget disease" "A malignant neoplasm in which there is infiltration of the skin overlying the breast by neoplastic large cells with abundant pale cytoplasm and large nuclei with prominent nucleoli (Paget cells). It is almost always associated with an intraductal or invasive ductal carcinoma of the breast. The clinical features include focal skin reddening, and eczema. Retraction of the nipple may sometimes occur." "" + "scrotum Paget disease" "A mammary Paget's disease that involves the scrotum." "" + "scrotum cancer" "A primary or metastatic malignant neoplasm affecting the scrotum." "" + "anal Paget disease" "A slowly spreading, erythematous eczematoid plaque in the anal region. Histologically, the basal part or whole thickness of the squamous epithelium is infiltrated by large cells with abundant pale cytoplasm and large nuclei. Half of the cases are associated with an internal malignancy, most often a colorectal adenocarcinoma. The other half of the cases, have a high local recurrence rate and they may become invasive (WHO)." "" + "anus adenocarcinoma" "An adenocarcinoma arising in the anal canal epithelium, including the mucosal surface, the anal glands, and the lining of fistulous tracts. The prognosis is related to the stage at diagnosis." "" + "anal carcinoma" "A carcinoma that arises from epithelial cells of the anus" "" + "Paget disease of the penis" "A premalignant condition morphologically characterised by the presence of the characteristic Paget cells in the intraepithelial tissue of the penis. It presents as a smooth raised reddish area that may or may not be painful. -- 2003" "" + "adenocarcinoma of penis" "A adenocarcinoma that involves the penis." "" + "cutaneous Paget disease" "A skin carcinoma that is characterized by infiltration of the skin by neoplastic large cells with abundant pale cytoplasm and large nuclei with prominent nucleoli." "" + "iris cancer" "A malignant neoplasm involving the iris." "" + "uveal cancer" "A primary or metastatic malignant neoplasm that affects the choroid, ciliary body, or iris." "" + "iris neoplasm" "A neoplasm (disease) that involves the iris." "" + "uvea neoplasm" "A neoplasm (disease) that involves the uvea." "" + "blepharochalasis" "An eyelid disease that is characterized by exacerbations and remissions of eyelid edema, which results in a stretching and subsequent atrophy of the eyelid tissue, leading to the formation of redundant folds over the lid margins." "" + "obsolete plague" "" "true" + "obsolete systemic mastocytosis" "" "true" + "extrahepatic bile duct signet ring cell carcinoma" "An adenocarcinoma that arises from the extrahepatic bile ducts. It is characterized by the presence of signet ring malignant epithelial cells." "" + "extrahepatic bile duct adenocarcinoma" "A carcinoma that arises from glandular epithelial cells of the extrahepatic bile duct" "" + "extrahepatic bile duct carcinoma" "A carcinoma that arises from epithelial cells of the extrahepatic bile duct." "" + "bile duct adenocarcinoma" "A carcinoma that arises from glandular epithelial cells of the bile duct" "" + "pancreatic signet ring cell adenocarcinoma" "A rare pancreatic ductal adenocarcinoma with poor prognosis. It is characterized by the presence of malignant signet ring cells infiltrating the pancreatic parenchyma in an individual cell pattern." "" + "pancreatic ductal adenocarcinoma" "An infiltrating adenocarcinoma that arises from the epithelial cells of the pancreas. It affects males more often than females and the patients are usually over 50 years of age. Microscopically it is characterized by the presence of glandular (ductal) differentiation and desmoplastic stroma formation. Signs and symptoms include pain, loss of weight, and jaundice. It grows rapidly and is usually detected after it has metastasized to other anatomic sites. The prognosis is usually poor." "" + "gallbladder signet ring cell adenocarcinoma" "An adenocarcinoma that arises from the gallbladder. It is characterized by the presence of signet ring malignant epithelial cells." "" + "gallbladder adenocarcinoma" "A carcinoma that arises from glandular epithelial cells of the gall bladder." "" + "obsolete gallbladder adenocarcinoma" "" "true" + "ampullary signet ring cell adenocarcinoma" "An adenocarcinoma arising from the ampulla of Vater. Morphologically, it is characterized by the presence of mucin-containing signet-ring cells." "" + "ampulla of vater adenocarcinoma" "A carcinoma that arises from glandular epithelial cells of the hepatopancreatic ampulla" "" + "duodenal adenocarcinoma" "A carcinoma that arises from glandular epithelial cells of the duodenum." "" + "carcinoma of the ampulla of vater" "A carcinoma arising from the ampulla of Vater. The vast majority of cases are adenocarcinomas. Signs and symptoms include jaundice, abdominal pain, anorexia, nausea, vomiting, and weight loss." "" + "signet ring cell breast carcinoma" "An invasive breast adenocarcinoma characterized by the presence of malignant epithelial cells with signet ring appearance." "" + "invasive breast carcinoma" "A carcinoma that infiltrates the breast parenchyma. The vast majority are adenocarcinomas arising from the terminal ductal lobular unit (TDLU). Often, the invasive adenocarcinoma co-exists with ductal or lobular carcinoma in situ. It is the most common carcinoma affecting women." "" + "acinar prostate adenocarcinoma, signet ring variant" "A morphologic variant of acinar adenocarcinoma of the prostate gland characterized by the presence of signet ring malignant cells." "" + "obsolete dermatofibrosarcoma protuberans" "" "true" + "stricture or kinking of ureter" "" + "neurofibrosarcoma" "A malignant tumor that arises from small cutaneous nerves, is locally aggressive, and has a potential for metastasis. Characteristic histopathologic features include proliferating atypical spindle cells with slender wavy and pointed nuclei, hypocellular areas, and areas featuring organized whorls of fibroblastic proliferation. The most common primary sites are the extremities, retroperitoneum, and trunk. These tumors tend to present in childhood, often in association with neurofibromatosis 1. (From DeVita et al., Cancer: Principles & Practice of Oncology, 5th ed, p1662; Mayo Clin Proc 1990 Feb;65(2):164-72)" "" + "adult fibrosarcoma" "A malignant mesenchymal neoplasm composed of fibroblasts. It is characterized by collagen production and a herringbone architectural pattern. It is more commonly seen in middle-aged and older adults. It usually affects the deep soft tissues of extremities, trunk, head and neck. Adult fibrosarcomas may recur and metastasize to the lungs and bones." "" + "conventional fibrosarcoma" "A malignant mesenchymal neoplasm composed of fibroblasts, and characterized by collagen production and usually a herringbone architectural pattern." "" + "pediatric fibrosarcoma" "A malignant neoplasm arising from the deep soft tissues in children. It is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation in a herringbone growth pattern." "" + "cerebral infarction" "An ischemic condition of the brain, producing a persistent focal neurological deficit in the area of distribution of the cerebral arteries." "" + "brain infarction" "Tissue necrosis in any area of the brain, including the cerebral hemispheres, the cerebellum, and the brain stem. Brain infarction is the result of a cascade of events initiated by inadequate blood flow through the brain that is followed by hypoxia and hypoglycemia in brain tissue. Damage may be temporary, permanent, selective or pan-necrosis." "" + "chronic wasting disease" "A transmissible spongiform encephalopathy (prion disease) of deer and elk characterized by chronic weight loss leading to death. It is thought to spread by direct contact between animals or through environmental contamination with the prion protein (prions)." "" + "prion disease" "A transmissible disease that is caused by a protein that is able to induce abnormal folding of normal cellular proteins, leading to characteristic spongiform brain changes, which are associated with neuronal loss without an inflammatory response. Such disorders have typically long incubation periods, but are then generally rapidly progressive and are uniformly fatal." "" + "non-human animal disease" "A disease that occurs in animals." "" + "choroid plexus cancer" "A malignant neoplasm involving the choroid plexus" "" + "cerebral ventricle cancer" "A neoplasm that involves a brain ventricle. It may be a primary neoplasm arising from a brain ventricle, a metastasis from a distant anatomic site, or an extension of an invasive neoplasm from an adjacent brain structure." "" + "choroid plexus neoplasm" "An intraventricular papillary neoplasm that originates from the choroid plexus epithelium. It includes the choroid plexus papilloma, atypical choroid plexus papilloma, and choroid plexus carcinoma." "" + "adult choroid plexus neoplasm" "A choroid plexus neoplasm that occurs in an adult." "" + "atypical choroid plexus papilloma" "A choroid plexus papilloma characterized by increased mitotic activity." "" + "childhood choroid plexus carcinoma" "A choroid plexus carcinoma that occurs during childhood." "" + "choroid plexus carcinoma" "A malignant neoplasm arising from the choroid plexus. It shows anaplastic features and usually invades neighboring brain structures. Cerebrospinal fluid metastases are frequent. (Adapted from WHO)" "" + "childhood choroid plexus neoplasm" "A neoplasm that arises from the choroid plexus in the brain and occurs during childhood." "" + "obsolete mast-cell sarcoma" "" "true" + "superior mesenteric artery syndrome" "Superior mesenteric artery syndrome (SMAS) is a digestive condition that occurs when the duodenum (the first part of the small intestine) is compressed between two arteries (the aorta and the superior mesenteric artery). This compression causes partial or complete blockage of the duodenum. Symptoms vary based on severity, but can be severely debilitating. Symptoms may include abdominal pain, fullness, nausea, vomiting, and/or weight loss. SMAS typically is due toloss of the mesenteric fat pad (fatty tissue that surrounds the superior mesenteric artery). The most common cause is significant weight loss caused by medical disorders, psychological disorders, or surgery. In younger patients, it most commonly occurs after corrective spinal surgery for scoliosis. Delays in diagnosis may result in significant complications. Depending on the cause and severity, treatment options may include addressing the underlying cause, dietary changes (small feedings or a liquid diet), and/or surgery. Symptoms may not resolve completely after treatment." "" + "duodenal disease" "Pathological conditions in the duodenum region of the small intestine (intestine, small)." "" + "intestinal obstruction" "Blockage of the normal flow of the intestinal contents within the bowel." "" + "obsolete pseudomyxoma peritonei" "" "true" + "obsolete meningioma" "" "true" + "liver and intrahepatic bile duct neoplasm" "A benign or malignant neoplasm that affects the liver parenchyma or intrahepatic bile ducts. Representative examples of benign neoplasms include hepatocellular adenoma, and bile duct adenoma. Representative examples of malignant neoplasms include hepatocellular carcinoma, intrahepatic cholangiocarcinoma, and lymphoma." "" + "intracranial sinus thrombosis" "Formation or presence of a blood clot (thrombus) in the cranial sinuses, large endothelium-lined venous channels situated within the skull. Intracranial sinuses, also called cranial venous sinuses, include the superior sagittal, cavernous, lateral, petrous sinuses, and many others. Cranial sinus thrombosis can lead to severe headache; seizure; and other neurological defects." "" + "intracranial thrombosis" "Formation or presence of a blood clot (thrombus) in a blood vessel within the skull. Intracranial thrombosis can lead to thrombotic occlusions and brain infarction. The majority of the thrombotic occlusions are associated with atherosclerosis." "" + "lateral sinus thrombosis" "Formation or presence of a blood clot (thrombus) in the lateral sinuses. This condition is often associated with ear infections (otitis media or mastoiditis) without antibiotic treatment. In developed nations, lateral sinus thrombosis can result from craniocerebral trauma; brain neoplasms; neurosurgical procedures; thrombophilia; and other conditions. Clinical features include headache; vertigo; and increased intracranial pressure." "" + "cavernous sinus thrombosis" "Formation or presence of a blood clot (thrombus) in the cavernous sinus of the brain. Infections of the paranasal sinuses and adjacent structures, craniocerebral trauma, and thrombophilia are associated conditions. Clinical manifestations include dysfunction of cranial nerves iii, iv, V, and vi, marked periorbital swelling, chemosis, fever, and visual loss. (From Adams et al., Principles of Neurology, 6th ed, p711)" "" + "sagittal sinus thrombosis" "Formation or presence of a blood clot (thrombus) in the superior sagittal sinus or the inferior sagittal sinus. Sagittal sinus thrombosis can result from infections, hematological disorders, craniocerebral trauma; and neurosurgical procedures. Clinical features are primarily related to the increased intracranial pressure causing headache; nausea; and vomiting. Severe cases can evolve to seizures or coma." "" + "sex cord-stromal tumor" "A neoplasm involving a sex cord." "" + "ovarian gonadoblastoma" "A neoplasm that arises from the ovary and is composed of tissues that resemble dysgerminoma or seminoma and are admixed with sex cord tissues. It is found in children or young adults and usually is associated with secondary sex organs abnormalities. The majority of patients present as phenotypic females with virilization. The minority of patients present as phenotypic males with feminization. It typically affects both gonads. If a malignant germ cell component is present, it may metastasize to other anatomic sites." "" + "gonadoblastoma" "A mixed germ cell/sex cord-stromal tumor characterized by the presence of large germ cells which resemble seminoma cells and small cells which resemble Sertoli or granulosa cells. It occurs in the testis and the ovary and is identified in children and adults. It is often associated with gonadal dysgenesis and abnormal karyotype." "" + "testicular gonadoblastoma" "A testicular mixed germ cell-sex cord-stromal tumor. It is usually associated with mixed gonadal dysgenesis and ambiguous genitalia. It is characterized by the presence of nests of large neoplastic germ cells and immature cells that resemble Sertoli cells." "" + "obsolete pancreatic ductal carcinoma" "" "true" + "obsolete epithelioid trophoblastic tumor" "" "true" + "ovarian mucinous cystadenocarcinoma" "An invasive cystic adenocarcinoma arising from the ovary. It is characterized by the presence of malignant glandular epithelial cells which contain intracytoplasmic mucin. The malignant cells invade the ovarian stroma and the cystic spaces contain mucoid material. In a minority of cases both ovaries are involved by the tumor. The prognosis for stage I tumors is excellent. Patients with metastases usually have a poor prognosis." "" + "mucinous cystadenocarcinoma" "An invasive adenocarcinoma characterized by cystic changes and the presence of malignant glandular cells which contain intracytoplasmic mucin. It may arise from the ovary, pancreas, appendix, and lung." "" + "ovarian cystadenocarcinoma" "An adenocarcinoma that arises from the ovary and is characterized by the presence of cystic structures. It includes the serous cystadenocarcinoma, mucinous cystadenocarcinoma, and clear cell cystadenocarcinoma." "" + "ovarian mucinous adenocarcinoma" "An invasive adenocarcinoma that arises from the ovary and is characterized by the presence of malignant epithelial cells that contain intracytoplasmic mucin. There is cellular atypia, increased layering of cells, complexity of glands, and papillary formations." "" + "cystadenocarcinoma" "A malignant cystic epithelial neoplasm arising from the glandular epithelium. The malignant epithelial cells invade the stroma. The cystic spaces contain serous or mucinous fluid. Representative examples include ovarian and pancreatic cystadenocarcinomas." "" + "ovarian adenocarcinoma" "An adenocarcinoma that arises from the ovary. It is the most common type of ovarian carcinoma. It includes the serous adenocarcinoma, mucinous adenocarcinoma, clear cell adenocarcinoma, and endometrioid adenocarcinoma." "" + "appendix mucinous cystadenocarcinoma" "An adenocarcinoma arising from the appendix, characterized by the presence of mucinous stroma formation and cystic structures." "" + "mucinous adenocarcinoma of the appendix" "Mucinous adenocarcinoma of the appendix is a very rare, slow growing, well-differentiated epithelial neoplasm of the appendix characterized by abundant mucin production. Clinically, it presents as acute appendicitis (with abdominal pain, fever, leukocytosis) or as pseudomyxoma peritonei (wide-spread presence of mucin within the peritoneal cavity), however some patients may be completely asymptomatic at the time of diagnosis. In many cases, a second gastrointestinal malignancy is present." "" + "obsolete appendix adenocarcinoma" "" "true" + "breast mucinous cystadenocarcinoma" "An invasive breast adenocarcinoma characterized by the presence of tall columnar neoplastic cells that contain intracytoplasmic mucin. Grossly, cystic changes are identified." "" + "breast mucinous carcinoma" "An invasive adenocarcinoma of the breast characterized by the presence of islands of small and uniform cells, surrounded by large amounts of mucin. Pure mucinous breast carcinomas generally have a favorable prognosis." "" + "cervix endometriosis" "Endometriosis that affects the cervix. Most patients are asymptomatic. Some patients may present with recurrent minimal uterine bleeding." "" + "invasive ductal breast carcinoma" "The most common type of invasive breast carcinoma, accounting for approximately 70% of breast carcinomas. The gross appearance is usually typical with an irregular stellate outline. Microscopically, randomly arranged epithelial elements are seen. When large sheets of malignant cells are present, necrosis may be seen. With adequate tissue sampling, in situ carcinoma can be demonstrated in association with the infiltrating carcinoma. The in situ component is nearly always ductal but occasionally may be lobular or both." "" + "mucinous adenocarcinoma" "An invasive adenocarcinoma composed of malignant glandular cells which contain intracytoplasmic mucin. Often, the infiltrating glandular structures are associated with mucoid stromal formation. It may arise from the large and small intestine, appendix, stomach, lung, ovary, breast, corpus uteri, cervix, vagina, and salivary gland." "" + "obsolete Kallmann syndrome" "" "true" + "infiltrating angiolipoma" "An uncommon lipoma characterized by prominent vascularity that invades the surrounding deep tissue." "" + "angiolipoma" "A lipoma with prominent vascularity. The vascular tissue is more abundant at the periphery of the tumor and contains fibrin thrombi. It occurs more frequently in younger individuals as a painful subcutaneous nodule, often on the arms." "" + "infiltrating lipoma" "A benign tumor, composed of lobules of mature adipocytes, that penetrates the surrounding tissue from which it arises. There is usually a higher local recurrence rate when compared with non-infiltrating lipomas." "" + "obsolete angiolipoma" "" "true" + "epidural spinal canal angiolipoma" "An uncommon lipoma characterized by prominent vascularity that arises in the epidural space of the spinal canal." "" + "epidural spinal canal neoplasm" "A primary or metastatic neoplasm that involves the space between the vertebral periosteum and dura mater that surrounds the spinal cord." "" + "childhood spinal cord tumor" "A benign or malignant neoplasm affecting the spinal cord during childhood." "" + "spinal cord intramedullary teratoma" "" + "central nervous system teratoma" "A mature or immature teratoma that affects the central nervous system." "" + "primary germ cell tumor of central nervous system" "" + "extragonadal teratoma" "Extragonadal teratoma is an extremely rare, benign or malignant germ cell tumor characterized, clinically, by a teratoma presenting in an extragonadal location (e.g. retroperitoneum, mediastinum, craniofacial or sacrococcygeal region, intraosseous, solid organs) and, histologically, by displaying well-differentiated structures, as well as immature elements. Presenting symptoms are variable depending on size and location of tumor." "" + "central nervous system nongerminomatous germ cell tumor" "Germ cell tumors of the central nervous system other than germinoma. This category includes teratoma, choriocarcinoma, embryonal carcinoma, and yolk sac tumor." "" + "conus medullaris neoplasm" "A neoplasm (disease) that involves the conus medullaris." "" + "sella turcica neoplasm" "A benign or malignant neoplasm that occurs in sella turcica. Representative examples include craniopharyngioma and pituitary gland adenoma." "" + "skull base neoplasm" "A benign or malignant neoplasm that affects the skull base." "" + "pituitary gland disease" "A disease involving the pituitary gland." "" + "olfactory nerve neoplasm" "Benign and malignant neoplasms which arise from or metastasize to the olfactory or first cranial nerve. Clinical features may include facial pain and impairments of taste or smell." "" + "olfactory nerve disease" "A disease involving the olfactory nerve." "" + "obsolete cutaneous mastocytosis" "" "true" + "mast cell neoplasm" "A heterogeneous group of disorders characterized by the abnormal growth and accumulation of mast cells in one or more organ systems. Recent data suggest that most variants of mast cell neoplasms are clonal disorders. (WHO, 2001)" "" + "myeloid neoplasm" "Proliferation of myeloid cells originating from a primitive stem cell." "" + "obsolete diffuse cutaneous mastocytosis" "" "true" + "cutaneous solitary mastocytoma" "A variant of cutaneous mastocytosis which occurs as a single lesion usually in infants. It is found mostly in the wrist and trunk and there is no atypical cytomorphology." "" + "rhabdoid tumor of the kidney" "A rhabdoid tumor that arises from the kidney. It occurs in children and it is associated with abnormalities of chromosome 22. It is characterized by the presence of cells with a large eccentric nucleus, prominent nucleolus, and abundant cytoplasm. The prognosis is poor." "" + "kidney sarcoma" "A sarcoma involving a kidney." "" + "childhood kidney neoplasm" "A kidney neoplasm that occurs during childhood." "" + "lung neoplasm" "A benign or malignant, primary or metastatic neoplasm involving the lungs. Representative examples of benign neoplasms include adenoma, papilloma, chondroma, and endobronchial lipoma. Representative examples of malignant neoplasms include carcinoma, carcinoid tumor, sarcoma, and lymphoma." "" + "" "true" + "anal mucinous adenocarcinoma" "An anal adenocarcinoma characterized by the presence of mucoid stroma formation." "" + "rectum mucinous adenocarcinoma" "An invasive adenocarcinoma of the rectum characterized by the presence of pools of extracellular mucin. Malignant glandular epithelial cells are present in the mucin collections. Mucin constitutes more than 50% of the lesion." "" + "anal canal adenocarcinoma" "An anal adenocarcinoma arising from the anal canal mucosa. Morphologically, it resembles the adenocarcinoma which arises from the colorectal glandular epithelium. Symptoms include anal pruritus, discomfort when sitting, pain, change in bowel habit, and bleeding." "" + "anal canal carcinoma" "A carcinoma that arises from epithelial cells of the anal canal" "" + "ampulla of vater mucinous adenocarcinoma" "A carcinoma with glandular differentiation arising from the ampulla of Vater. Morphologically, it is characterized by the presence of mucoid stroma formation." "" + "extrahepatic bile duct mucinous adenocarcinoma" "An adenocarcinoma that arises from the extrahepatic bile ducts. It is characterized by the presence of extracellular mucin that constitutes more than fifty-percent of the tumor." "" + "acute sanguinous otitis media" "A acute transudative otitis media which involves bloody effusion." "" + "uterine ligament mucinous adenocarcinoma" "A rare mucinous adenocarcinoma that arises from the uterine ligament." "" + "uterine ligament adenocarcinoma" "A rare adenocarcinoma that arises from the uterine ligament." "" + "cervical mucinous adenocarcinoma" "A usually well to moderately differentiated cervical adenocarcinoma characterized by the presence of malignant glandular cells that contain significant amount of intracytoplasmic mucin." "" + "uterine ligament cancer" "A primary or metastatic malignant neoplasm that affects the uterine ligament." "" + "adenocarcinoma of cervix uteri" "A adenocarcinoma that involves the uterine cervix." "" + "obsolete prostate colloid adenocarcinoma" "" "true" + "fallopian tube mucinous adenocarcinoma" "An extremely rare adenocarcinoma that arises from the fallopian tube. It is characterized by the presence of neoplastic epithelial cells that contain intracytoplasmic mucin. The cases that have been reported are predominantly in situ mucinous adenocarcinomas." "" + "fallopian tube mucinous tumor" "A rare borderline or malignant epithelial tumor of the fallopian tube characterized by the presence of neoplastic epithelial cells that contain intracytoplasmic mucin and may resemble the epithelial cells of the endocervix or gastrointestinal tract." "" + "fallopian tube adenocarcinoma" "A carcinoma that arises from glandular epithelial cells of the fallopian tube" "" + "fallopian tube carcinoma" "A carcinoma that arises from epithelial cells of the fallopian tube." "" + "endometrial mucinous adenocarcinoma" "A primary, usually low grade adenocarcinoma of the endometrium in which the majority of the malignant epithelial cells contain abundant intracytoplasmic mucin." "" + "endometrium adenocarcinoma" "An adenocarcinoma arising from the uterine body cavity. This is the most frequent malignant tumor affecting the uterine body, and is linked to estrogen therapy. Most patients present with uterine bleeding and are over age 40 at the time of diagnosis. The prognosis depends on the stage of the tumor, the depth of the uterine wall invasion, and the histologic subtype. Endometrioid adenocarcinoma is the most frequently seen morphologic variant of endometrial adenocarcinoma." "" + "bladder colloid adenocarcinoma" "" + "bladder adenocarcinoma" "A carcinoma that arises from glandular epithelial cells of the urinary bladder" "" + "urinary bladder carcinoma" "A carcinoma that arises from epithelial cells of the urinary bladder" "" + "ovarian carcinoma" "A malignant neoplasm originating from the surface ovarian epithelium. It accounts for the greatest number of deaths from malignancies of the female genital tract and is the fifth leading cause of cancer fatalities in women. It is predominantly a disease of older white women of northern European extraction, but it is seen in all ages and ethnic groups. Adenocarcinomas constitute the vast majority of ovarian carcinomas. The pattern of metastatic spread in ovarian carcinoma is similar regardless of the microscopic type. The most common sites of involvement are the contralateral ovary, peritoneal cavity, para-aortic and pelvic lymph nodes, and liver. Lung and pleura are the most common sites of extra-abdominal spread. The primary form of therapy is surgical. The overall prognosis of ovarian carcinoma remains poor, a direct result of its rapid growth rate and the lack of early symptoms. --2002" "" + "obsolete mucinous stomach adenocarcinoma" "" "true" + "extramedullary plasmacytoma" "A plasma cell neoplasm arising at an extraosseous site. There is no involvement of the bone marrow. It most frequently involves the oropharynx, nasopharynx, sinuses, and larynx. Other sites of involvement include the gastrointestinal tract, central nervous system, breast, skin, lymph nodes, and bladder. A minority of patients have a monoclonal gammopathy. Treatment includes radiation therapy. Progression to plasma cell myeloma occurs in a minority of patients." "" + "plasmacytoma" "Plasmacytoma is a localized mass of neoplastic monoclonal plasma cells that represents approximately 5% of all plasma cell neoplasms. There are two separate entities: primary plasmacytoma of the bone and extramedullary plasmacytoma of the soft tissues. Of the extramedullary plasmacytomas, 80% occur in the head and neck, usually in the upper respiratory tract. The median age at diagnosis is 50 years and the male to female ratio is 3:1. Long-term survival is possible following local radiotherapy, particularly for soft tissue presentations." "" + "solitary osseous plasmacytoma" "A localized, clonal (malignant) plasma cell infiltrate in the bone, without peripheral blood involvement. The most commonly affected bones are the vertebrae, ribs, skull, pelvis and femur. X-rays examination reveals a solitary lytic lesion." "" + "solitary plasmacytoma of chest wall" "A solitary plasmacytoma that arises from the chest wall." "" + "chest wall lymphoma" "A lymphoma that affects the structures of the chest wall. The majority of cases are diffuse large B-cell lymphomas." "" + "acute allergic sanguinous otitis media" "A acute sanguinous otitis media caused by an allergen." "" + "vulva verrucous carcinoma" "A highly differentiated squamous cell carcinoma that arises from the vulva. It is characterized by the presence of a warty and hyperkeratinized surface, malignant cells with abundant eosinophilic cytoplasm, minimal cytologic atypia, and absence or rarity of mitotic figures. The tumor infiltrates the underlying stroma with a pushing border." "" + "verrucous carcinoma" "A well differentiated squamous cell carcinoma characterized by a papillary growth pattern, acanthosis, mild cytologic atypia, and pushing tumor margins. The most commonly affected anatomic sites are the oral cavity, nasal cavity, larynx, esophagus, anus, vagina, vulva, and the plantar region of the foot." "" + "vulvar squamous cell carcinoma" "An invasive squamous cell carcinoma arising from the vulva. Risk factors include the human papilloma virus and cigarette smoking. Precursor lesions include the vulvar intraepithelial neoplasia, lichen sclerosus with associated squamous cell hyperplasia, and chronic granulomatous vulvar disease such as granuloma inguinale. Symptoms include vulvar pruritus or irritation, discharge, bleeding, and pain. The following morphologic variants have been identified: keratinizing, non-keratinizing, basaloid, warty, verrucous, keratoacanthoma-like, and squamous cell carcinoma with tumor giant cells. Risk factors for recurrence include advanced stage, tumor diameter greater than 2.5 cm, multifocality, capillary-like space involvement, associated vulvar intraepithelial neoplasia grades 2 or 3, and margins of resection involved by tumor. (WHO, 2003)" "" + "bladder verrucous carcinoma" "A verrucous carcinoma that involves the urinary bladder." "" + "bladder squamous cell carcinoma" "A squamous cell carcinoma of the bladder arising from metaplastic epithelium. It represents less than 10% of bladder carcinomas. The exception is the Middle East along the Nile Valley, where it represents the most common form of carcinoma because of the endemic nature of schistosomiasis. Bladder squamous cell carcinoma is often associated with long-standing chronic inflammation of the bladder and usually has a poor prognosis. The diagnosis of squamous cell carcinoma of the bladder should be reserved for those tumors that are predominantly keratin forming." "" + "cervical verrucous carcinoma" "A highly differentiated variant of cervical squamous cell carcinoma characterized by the presence of a warty surface and stromal invasion with pushing borders. The malignant cells have abundant cytoplasm and minimal nuclear atypia. Koilocytosis is not present." "" + "cervical squamous cell carcinoma" "A squamous cell carcinoma arising from the cervical epithelium. It usually evolves from a precancerous cervical lesion. Increased numbers of sexual partners and human papillomavirus (HPV) infection are risk factors for cervical squamous cell carcinoma. The following histologic patterns have been described: conventional squamous cell carcinoma, papillary squamous cell carcinoma, transitional cell carcinoma, lymphoepithelioma-like carcinoma, verrucous carcinoma, condylomatous carcinoma and spindle cell carcinoma. Survival is most closely related to the stage of disease at the time of diagnosis." "" + "papillary carcinoma of the cervix uteri" "A papillary carcinoma that involves the uterine cervix." "" + "esophagus verrucous carcinoma" "A rare variant of esophageal squamous cell carcinoma. It is an exophytic, cauliflower-like or papillary mass that can arise in any part of the esophagus. This variant of squamous cell carcinoma grows slowly and invades locally, with a very low metastasizing potential. (WHO)" "" + "esophageal squamous cell carcinoma" "Esophageal squamous cell carcinoma (ESCC) is a type of esophageal carcinoma (EC) that can affect any part of the esophagus, but is usually located in the upper or middle third." "" + "urethral verrucous carcinoma" "A verrucous carcinoma that involves the urethra." "" + "urethra squamous cell carcinoma" "A well differentiated, moderately differentiated, or poorly differentiated squamous cell carcinoma that arises from the male or female urethra." "" + "carcinoma of urethra" "A carcinoma that involves the urethra." "" + "plantar verrucous skin carcinoma" "A verrucous carcinoma that involves the plantar part of pes." "" + "larynx verrucous carcinoma" "A well differentaited, non-metastasizing squamous cell carcinoma arising from the larynx. It is an exophytic, warty, and slow growing tumor affecting predominantly older men. It is associated with tobacco smoking. Symptoms include hoarseness, airway obstruction, weight loss, dysphagia, and throat pain. If left untreated, it may cause extensive local destruction." "" + "laryngeal squamous cell carcinoma" "A squamous cell carcinoma that arises from the larynx. It is the most common histologic type of laryngeal carcinoma. It can arise from the glottis, supraglottic area, or it can be transglottic. Glottic squamous cell carcinoma is the most frequent laryngeal carcinoma in the United States. The symptoms, clinical behavior and the prognosis depend on the site of origin within the larynx." "" + "obsolete protein C deficiency" "A rare thrombophilia disorder characterized by deficiency of protein C. It results in venous thromboembolism." "" "true" + "true hermaphroditism" "A rare condition characterized by the unequivocal presence of both testicular and ovarian tissues in an individual. It is usually manifested with ambiguous external genitalia." "" + "leukorrhea" "Whitish or yellowish mucosal vaginal discharge." "" + "vaginal discharge" "Normal or abnormal secretions from the vagina. Mucus produced by the cervical glands is discharged from the vagina naturally, especially during the childbearing years. Causes of abnormal vaginal discharge include infectious agents (e.g., Neisseria gonorrhea, Chlamydia trachomatis, Trichomonas, and Candida albicans), the presence of foreign bodies, and cervical or vaginal cancer." "" + "interstitial lung disease" "A diverse group of lung diseases that affect the lung parenchyma. They are characterized by an initial inflammation of pulmonary alveoli that extends to the interstitium and beyond leading to diffuse pulmonary fibrosis. Interstitial lung diseases are classified by their etiology (known or unknown causes), and radiological-pathological features." "" + "intraventricular meningioma" "A meningioma that affects the ventricles of the brain." "" + "malignant tumor of meninges" "A cancer that involves the meningeal cluster." "" + "cerebral meningioma" "A meningioma that affects the cerebral hemispheres." "" + "" "true" + "chordoid glioma of the third ventricle" "A rare, slow-growing neuroepithelial neoplasm of uncertain origin affecting adults. It is located in the third ventricle. It is characterized by the presence of epithelioid cells which express GFAP, and mucinous stroma which contains lymphoplasmacytic infiltrates." "" + "obsolete chordoid glioma" "" "true" + "anovulation" "The absence of ovulation." "" + "external ear disease" "A disease involving the external ear." "" + "obsolete pleural empyema" "" "true" + "epidural spinal canal meningioma" "A meningioma that arises in the epidural spinal canal space." "" + "central nervous system chondroma" "An extraskeletal chondroma usually arising from the dura." "" + "soft tissue chondroma" "A benign neoplasm arising from the extraskeletal soft tissues near tendons and joints. It is a well circumscribed tumor characterized by the presence of chondrocytes, a lobulated hyaline cartilage growth pattern, and in some cases calcification." "" + "" "true" + "glossopharyngeal nerve paralysis" "Paralysis of the glossopharyngeal nerve." "" + "Shwartzman phenomenon" "Hemorrhagic necrosis that was first demonstrated in rabbits with a two-step reaction, an initial local (intradermal) or general (intravenous) injection of a priming endotoxin (endotoxins) followed by a second intravenous endotoxin injection (provoking agent) 24 h later. The acute inflammation damages the small blood vessels. The following intravascular coagulation leads to capillary and venous thrombosis and necrosis. Shwartzman phenomenon can also occur in other species with a single injection of a provoking agent, and during infections or pregnancy. Its susceptibility depends on the status of immune system, coagulation, fibrinolysis, and blood flow." "" + "vascular hemostatic disease" "Pathological processes involving the integrity of blood circulation. Hemostasis depends on the integrity of blood vessels, blood fluidity, and blood coagulation. Majority of the hemostatic disorders are caused by disruption of the normal interaction between the vascular endothelium, the plasma proteins (including blood coagulation factors), and platelets." "" + "obsolete craniopharyngioma" "" "true" + "diencephalic cancer" "A cancer involving a diencephalon." "" + "adamantinous craniopharyngioma" "A craniopharyngioma consisting of broad strands, cords and bridges of a multistratified squamous epithelium with peripheral palisading of nuclei. Diagnostic features include nodules of compact 'wet' keratin and dystrophic calcification. (Adapted from WHO)" "" + "craniopharyngioma" "A benign, partly cystic, epithelial tumor of the sellar region, presumably derived from Rathke pouch epithelium. It affects mainly children and young adults. There are two clinicopathological forms: adamantinomatous craniopharyngioma and papillary craniopharyngioma. The most significant factor associated with recurrence is the extent of surgical resection, with lesions greater than 5 cm in diameter carrying a markedly worse prognosis. (Adapted from WHO)" "" + "papillary craniopharyngioma" "A craniopharyngioma composed of sheets of squamous epithelium which separate to form pseudopapillae. This variant typically lacks nuclear palisading, wet keratin, calcification, and cholesterol deposits. Clinically, endocrine deficiencies are more often associated with papillary craniopharyngioma than with the adamantinomatous type. (Adapted from WHO)" "" + "hemangiopericytic tumor" "A term that refers to vascular neoplasms with a prominent hemangiopericytic growth pattern." "" + "neoplasm of testis" "A neoplasm (disease) that involves the testis." "" + "large cell medulloblastoma" "A medulloblastoma composed of large cells with prominent nucleoli and a larger amount of cytoplasm in contrast with the cells of the classic medulloblastoma." "" + "cerebellar vermis medulloblastoma" "A medulloblastoma arising from the vermis of the cerebellum." "" + "obsolete medullomyoblastoma" "" "true" + "adult medulloblastoma" "A medulloblastoma arising from the brain, occurring in adults." "" + "adult cerebellar neoplasm" "A cerebellar neoplasm that occurs in an adult." "" + "adult central nervous system primitive neuroectodermal neoplasm" "A central nervous system embryonal tumor, not otherwise specified that occurs in adults." "" + "melanotic medulloblastoma" "A rare malignant embryonal neoplasm characterized by the presence of small cells which resemble the cells of classic medulloblastoma and a minor population of melanin-forming neuroepithelial cells. It usually has an unfavorable clinical course." "" + "childhood medulloblastoma" "A medulloblastoma occurring in children." "" + "childhood cerebellar neoplasm" "A neoplasm that affects the cerebellum and occurs during childhood." "" + "childhood central nervous system primitive neuroectodermal neoplasm" "A central nervous system embryonal tumor, not otherwise specified that occurs in childhood." "" + "nodular medulloblastoma" "A medulloblastoma characterized by nodularity and neuronal differentiation." "" + "phlebitis" "Inflammation of a vein." "" + "colonic pseudo-obstruction" "Functional obstruction of the colon leading to megacolon in the absence of obvious colonic diseases or mechanical obstruction. When this condition is acquired, acute, and coexisting with another medical condition (trauma, surgery, serious injuries or illness, or medication), it is called Ogilvie's syndrome." "" + "functional colonic disease" "Chronic or recurrent colonic disorders without an identifiable structural or biochemical explanation. The widely recognized irritable bowel syndrome falls into this category." "" + "intestinal pseudo-obstruction" "Intestinal pseudo-obstruction is a digestive disorder in whichthe intestinal walls are unable to contract normally (called hypomotility); the conditionresembles a true obstruction, but no actual blockage exists. Signs and symptoms may include abdominal pain; vomiting; diarrhea; constipation; malabsorption of nutrients leading to weight loss and/or failure to thrive ; and other symptoms. It may be classified as neuropathic (from lack of nerve function)or myopathic (from lack of muscle function), depending on the source of the abnormality. The condition is sometimes inherited (in an X-linked recessive or autosomal dominant manner)and may be caused by mutations in the FLNA gene; it may also be acquired after certain illnesses. The goal of treatment is to provide relief from symptoms andensure that nutritional support is adequate." "" + "ileus" "Decrease in peristalsis in the absence of a mechanical bowel obstruction." "" + "apocrine adenoma" "A benign epithelial neoplasm arising from the apocrine sweat glands. Representative examples include tubular apocrine adenoma and external auditory canal ceruminous adenoma." "" + "apocrine sweat gland neoplasm" "A benign or malignant sweat gland neoplasm with apocrine differentiation. Representative examples include apocrine adenoma, ceruminous adenocarcinoma, and apocrine breast carcinoma." "" + "sweat gland adenoma" "A benign epithelial neoplasm arising from the sweat glands. Representative examples include tubular apocrine adenoma, syringofibroadenoma, and hidradenoma." "" + "lung carcinoma" "A carcinoma that arises from epithelial cells of the lung" "" + "respiratory tract neoplasm" "A benign or malignant, primary or metastatic neoplasm involving the respiratory tract." "" + "pancreatic serous cystadenoma" "A benign, non-metastasizing cystic epithelial neoplasm arising from the exocrine pancreas. It is composed of glycogen-rich epithelial cells which produce a watery fluid. Signs and symptoms include abdominal mass, abdominal pain, nausea, vomiting, and weight loss." "" + "serous cystadenoma" "A serous neoplasm in which the cysts and papillae are lined by a single layer of cells without atypia, architectural complexity or invasion." "" + "pancreatic cystadenoma" "A non-metastasizing cystic epithelial neoplasm arising from the exocrine pancreas." "" + "pancreatic serous cystic neoplasm" "A benign or malignant epithelial neoplasm that is usually cystic and arises from the exocrine pancreas. It is characterized by the presence of neoplastic epithelial cells that produce fluid similar to serum. Representative examples include serous cystadenoma and serous cystadenocarcinoma." "" + "main bronchus cancer" "A malignant neoplasm involving the main bronchus." "" + "lipomatous cancer" "A malignant mesenchymal neoplasm arising from adipocytes." "" + "tumor of adipose tissue" "A neoplasm (disease) that involves the adipose tissue." "" + "adrenal carcinoma" "A carcinoma involving a adrenal gland." "" + "adrenal gland cancer" "A malignant neoplasm involving the adrenal gland" "" + "adrenal gland neoplasm" "A neoplasm (disease) that involves the adrenal gland." "" + "obsolete adrenal cortical adenocarcinoma" "" "true" + "obsolete Loeffler endocarditis" "" "true" + "obsolete thyroid carcinoma" "" "true" + "trabecular follicular adenocarcinoma" "" + "thyroid gland follicular carcinoma" "A differentiated adenocarcinoma arising from the follicular cells of the thyroid gland. The nuclear features which characterize the thyroid gland papillary carcinoma are absent. Radiation exposure is a risk factor and it comprises approximately 10% to 15% of thyroid cancers. Clinically, it usually presents as a solitary mass in the thyroid gland. It is generally unifocal and thickly encapsulated and shows invasion of the capsule or the vessels. Diagnostic procedures include thyroid ultrasound and fine needle biopsy." "" + "trabecular adenocarcinoma" "A malignant epithelial neoplasm characterized by the presence of a trabecular glandular architectural pattern." "" + "obsolete thyroid gland medullary carcinoma" "" "true" + "obsolete Meige syndrome" "" "true" + "obsolete tuberculosis" "" "true" + "obsolete urinary system cancer" "" "true" + "Bartholin gland transitional cell carcinoma" "A rare carcinoma that arises from the Bartholin gland and is characterized by the presence of malignant urothelial-type epithelial cells." "" + "transitional cell carcinoma" "A malignant neoplasm arising from the transitional epithelium, usually affecting the urinary bladder, ureter, or renal pelvis. It may or may not have a papillary configuration. It is graded 1 to 3 or 4 according to the degree of cellular differentiation and architectural patterns. Grade 1 transitional cell carcinoma is histologically benign but it may recur. Transitional cell carcinomas may also affect the upper respiratory tract and the ovaries." "" + "bartholin gland carcinoma" "A carcinoma that arises from the Bartholin gland. It usually affects women over fifty and presents with enlargement of the Bartholin gland. Various histologic subtypes have been identified and include adenocarcinoma, squamous cell carcinoma, adenoid cystic carcinoma, adenosquamous carcinoma, transitional cell carcinoma, and small cell carcinoma." "" + "obsolete ovary transitional cell carcinoma" "" "true" + "non-keratinizing sinonasal squamous cell carcinoma" "A squamous cell carcinoma of the sinonasal tract characterized by a plexiform or ribbon-like growth pattern, cytological atypia, and lack of histological evidence of keratinization." "" + "nasal cavity and paranasal sinus squamous cell carcinoma" "A rare, keratinizing or non-keratinizing squamous cell carcinoma arising from the mucosal epithelium of the nasal cavity or the paranasal sinuses. It affects most often the maxillary sinus. Less frequently, it arises from the nasal cavity, ethmoid sinus, sphenoid sinus, and frontal sinus. Symptoms include nasal fullness, epistaxis, rhinorhea, pain, and paresthesia. Patients with nasal squamous cell carcinoma usually present earlier than patients with maxillary sinus carcinoma and have a better prognosis compared to the latter group." "" + "endometrial transitional cell carcinoma" "A rare primary carcinoma of the endometrium characterized by the presence of malignant epithelial cells resembling urothelial transitional cells. The malignant transitional cells constitute at least 90% of the tumor cells." "" + "fallopian tube transitional cell carcinoma" "A rare transitional cell carcinoma that arises from the fallopian tube." "" + "primary prostate urothelial carcinoma" "An urothelial carcinoma that arises from the urothelial lining of the prostatic ducts or the prostatic urethra." "" + "obsolete papillary transitional carcinoma" "" "true" + "urethra transitional cell carcinoma" "A transitional cell carcinoma that arises from the male or female urethra." "" + "urothelial carcinoma" "A malignant neoplasm derived from the transitional epithelium of the urinary tract (urinary bladder, ureter, urethra, or renal pelvis). It is frequently papillary." "" + "sarcomatoid transitional cell carcinoma" "A poorly differentiated transitional cell carcinoma characterized by the presence of malignant cells with spindle cell morphologic features." "" + "sarcomatoid carcinoma" "A malignant epithelial neoplasm characterized by the presence of spindle cells and anaplastic morphologic features. Giant cells and a sarcomatous component may also be present." "" + "obsolete spindle cell carcinoma" "" "true" + "leather-bottle stomach" "A cancer-related condition in which the gastric wall becomes thickened and rubbery (leather-bottle stomach). It is most often associated with diffuse gastric adenocarcinomas." "" + "cancer-related condition" "A disorder either associated with an increased risk for malignant transformation (e.g., intraepithelial neoplasia, leukoplakia, dysplastic nevus, myelodysplastic syndrome) or that develops as a result of the presence of an existing malignant neoplasm (e.g., paraneoplastic syndrome)." "" + "diffuse gastric adenocarcinoma" "An adenocarcinoma arising from the stomach. Microscopically, it is characterized by the presence of a diffuse infiltrate, composed of individual adenocarcinoma cells or groups of adenocarcinoma cells in a fibrous or mucoid stroma. Many cells contain mucin droplets, producing a signet-ring configuration." "" + "eosinophilic gastritis" "An eosinophilic gastroenteritis that is characterized by inflammation of the stomach." "" + "eosinophilic gastroenteritis" "Eosinophilic gastroenteritis (EGE) is a rare benign gastrointestinal disease characterized by the presence of abnormal and nonspecific gastro-intestinal (GI) manifestations, associated with an eosinophilic infiltration of the GI tract, which can affect several segments and involve several layers within the GI wall." "" + "obsolete eosinophilic gastroenteritis" "" "true" + "bacterial gastritis" "Gastritis resulting from bacteria." "" + "fungal gastritis" "Gastritis resulting from fungi." "" + "lymphocytic gastritis" "" + "necrotizing gastritis" "A variant of phlegmonous gastritis, typically progressing to gastric gangrene." "" + "granulomatous gastritis" "Gastritis that is associated with the presence of granulomas." "" + "skeletal muscle cancer" "A malignant neoplasm arising from skeletal muscle." "" + "skeletal muscle neoplasm" "A benign or malignant mesenchymal neoplasm arising from skeletal muscle." "" + "central nervous system rhabdomyosarcoma" "A malignant mesenchymal neoplasm with skeletal muscle differentiation affecting the central nervous system." "" + "mediastinum rhabdomyosarcoma" "A malignant mesenchymal tumor with skeletal muscle differentiation affecting the mediastinum." "" + "mediastinum sarcoma" "A rare sarcoma that arises from the mediastinum. Examples include liposarcoma, leiomyosarcoma, and angiosarcoma." "" + "mediastinal soft tissue cancer" "A malignant neoplasm that arises from the soft tissues of the mediastinum." "" + "rectum rhabdomyosarcoma" "A malignant mesenchymal tumor with skeletal muscle differentiation affecting the rectum." "" + "prostate sarcoma" "A rare malignant soft tissue neoplasm that arises from the prostate gland. Representative examples include leiomyosarcoma, rhabdomyosarcoma, and stromal sarcoma." "" + "ectomesenchymoma" "An aggressive malignant mesenchymal neoplasm of the nervous system or soft tissues. It is characterized by the presence of a sarcomatous component (most often rhabdomyosarcoma) and a ganglionic or a neuroectodermal component." "" + "central nervous system mesenchymal non-meningothelial tumor" "A benign or malignant mesenchymal neoplasm originating in the central nervous system or the meninges and showing fibrous, fibrohistiocytic, adipose, myoid, endothelial, chondroid or osseous, but not meningothelial differentiation. Depending on the histological features and clinical behavior of these neoplasms, their grade ranges from benign (WHO grade I) to highly malignant (WHO grade IV). (Adapted from WHO)" "" + "gallbladder rhabdomyosarcoma" "A rhabdomyosarcoma that is located in the gallbladder." "" + "gallbladder sarcoma" "A malignant soft tissue neoplasm that arises from the gallbladder. Representative examples include Kaposi sarcoma, leiomyosarcoma, and rhabdomyosarcoma." "" + "ovary rhabdomyosarcoma" "A malignant mesenchymal tumor with skeletal muscle differentiation affecting the ovaries." "" + "breast rhabdomyosarcoma" "A malignant mesenchymal tumor with skeletal muscle differentiation affecting the breast." "" + "testis rhabdomyosarcoma" "A malignant mesenchymal tumor with skeletal muscle differentiation affecting the testis." "" + "testis sarcoma" "A sarcoma that arises from the testis. The majority of cases arise from teratomas or spermatocytic seminomas." "" + "bile duct sarcoma" "A sarcoma that involves the bile duct." "" + "rhabdomyosarcoma with mixed embryonal and alveolar features" "A rhabdomyosarcoma composed of embryonic and alveolar components. It is characterized by the presence of spindle cells with myoblastic differentiation, a myxoid stroma, and fibrous septa. These tumors were previously considered variants of alveolar rhabdomyosarcoma. The lack of PAX3-FOXO1 fusions in most of these tumors suggests that are biologically and clinically related to embryonal rhabdomyosarcoma." "" + "anus rhabdomyosarcoma" "A malignant mesenchymal tumor with skeletal muscle differentiation affecting the anus." "" + "anus sarcoma" "A malignant soft tissue neoplasm arising from the anus. Representative examples include leiomyosarcoma, rhabdomyosarcoma, and Kaposi sarcoma." "" + "pancreatic cystadenocarcinoma" "A cystic adenocarcinoma that arises from the pancreas. It includes the acinar cell and serous cystadenocarcinoma subtypes." "" + "pancreatic adenocarcinoma" "A carcinoma that arises from glandular epithelial cells of the pancreas" "" + "bile duct mucinous cystic neoplasm with an associated invasive carcinoma" "A mucinous cystic neoplasm that arises from the intrahepatic or extrahepatic bile ducts and it is associated with an invasive carcinomatous component." "" + "bile duct cystadenoma" "An epithelial, usually multiloculated neoplasm arising from the intrahepatic or extrahepatic bile ducts. It occurs predominantly in females. Signs and symptoms include abdominal mass, abdominal pain, and jaundice. Morphologically, the cystic spaces are lined by columnar epithelium and contain mucinous or serous fluid." "" + "tricuspid valve insufficiency" "The backflow of blood from the right ventricle into the right atrium, owning to imperfect functioning/insufficiency of the tricuspid valve." "" + "testicular trophoblastic tumor" "A tumor that arises from the testis and is composed of neoplastic trophoblastic cells. The vast majority of cases are choriocarcinomas." "" + "trophoblastic neoplasm" "A gestational or non-gestational neoplasm composed of neoplastic trophoblastic cells. Representative examples include hydatidiform mole and choriocarcinoma." "" + "testicular pure germ cell tumor" "A germ cell tumor that arises from the testis and is characterized by the presence of one histologic component. This category includes seminoma, teratoma, embryonal carcinoma, yolk sac tumor, and trophoblastic tumor." "" + "testicular non-seminomatous germ cell tumor" "A testicular germ cell tumor characterized by the absence of a seminomatous component. It includes embryonal carcinoma, yolk sac tumor, choriocarcinoma, teratoma, and mixed forms." "" + "obsolete testicular germ cell tumor non-seminomatous" "" "true" + "testicular germ cell tumor" "A germ cell tumor arising from the testis. Representative examples include teratoma, seminoma, embryonal carcinoma, and yolk sac tumor." "" + "cervical adenosarcoma" "A rare malignant mixed epithelial and mesenchymal neoplasm that arises from the cervix and is characterized by the presence of malignant mesenchymal elements and benign epithelial elements." "" + "malignant mixed epithelial and mesenchymal tumor of cervix uteri" "" + "cervical carcinosarcoma" "A mixed epithelial and mesenchymal neoplasm that arises from the cervix and is characterized by the presence of malignant mesenchymal elements and benign or malignant epithelial elements. This category includes adenosarcoma and carcinosarcoma." "" + "carcinosarcoma" "A malignant tumor composed of a mixture of carcinomatous and sarcomatous elements." "" + "uterine carcinosarcoma" "A usually aggressive malignant neoplasm arising from the uterine corpus and less often the cervix. It is characterized by the presence of two components: a malignant epithelial component and a sarcomatous component. In the uterine corpus the epithelial component is usually glandular whereas in the cervix is usually non-glandular. Carcinosarcoma of the cervix, although it is aggressive, it may have a better prognosis compared to the uterine corpus carcinosarcoma." "" + "uterine corpus adenosarcoma" "A primary polypoid malignant neoplasm of the uterine corpus characterized by the presence of a sarcomatous mesenchymal component and a benign epithelial component. Patients usually present with abnormal vaginal bleeding. It is considered a low grade malignant neoplasm and may recur following resection." "" + "uterine body mixed cancer" "A primary malignant neoplasm of the uterine corpus characterized by the presence of an epithelial and a mesenchymal component. This category includes carcinosarcoma, carcinofibroma, and adenosarcoma." "" + "uterine corpus mixed epithelial and mesenchymal neoplasm" "A primary, benign or malignant neoplasm of the uterine corpus characterized by the presence of an epithelial and a mesenchymal component. Representative examples include adenomyoma, adenosarcoma, and carcinosarcoma." "" + "ovarian adenosarcoma" "A biphasic neoplasm that arises from the ovary and is characterized by the presence of mullerian-type epithelial tissue in a mesenchymal sarcomatous stroma. The presence of a high grade sarcomatous component is associated with recurrences and metastases." "" + "ovarian carcinosarcoma" "A highly aggressive malignant neoplasm arising from the ovary. Morphologically, it is a high grade tumor, composed of carcinomatous and sarcomatous elements." "" + "vaginal adenosarcoma" "A malignant mixed epithelial and mesenchymal neoplasm that arises from the vagina and is characterized by the presence of a malignant mesenchymal component and a benign or atypical mullerian-type epithelial component." "" + "vaginal carcinosarcoma" "An aggressive mixed epithelial and mesenchymal neoplasm that arises from the vagina and is characterized by the presence of a malignant epithelial component and a malignant mesenchymal component." "" + "colon neuroendocrine neoplasm" "A neoplasm with neuroendocrine differentiation that arises from the colon. It includes well differentiated neuroendocrine tumors (low and intermediate grade) and poorly differentiated neuroendocrine carcinomas (high grade)." "" + "intestinal neuroendocrine neoplasm" "A neoplasm with neuroendocrine differentiation that arises from the small or large intestine. It includes well differentiated neuroendocrine tumors (low and intermediate grade) and poorly differentiated neuroendocrine carcinomas (high grade)." "" + "intestinal neoplasm" "A benign or malignant neoplasm involving the small or large intestine." "" + "nail disease" "A disease involving the nail." "" + "erythrasma" "A chronic bacterial infection of major folds of the skin, caused by Corynebacterium minutissimum." "" + "common bile duct disease" "A disease involving the common bile duct." "" + "biliary tract disease" "A disease involving the biliary tree." "" + "intraorbital meningioma" "A meningioma that affects the intraorbital structures." "" + "orbit neoplasm" "A benign or malignant neoplasm that affects the orbit." "" + "orbital cancer" "A primary or metastatic malignant neoplasm involving the orbit." "" + "obsolete gastrointestinal adenoma" "" "true" + "obsolete gastrointestinal neuroendocrine benign tumor" "" "true" + "skull base chordoma" "A slow-growing malignant bone tumor arising from the remnants of the notochord and occurring in the base of the skull. It is characterized by a lobulated growth pattern, myxoid stroma formation, and the presence of physaliphorous cells.." "" + "obsolete chondroid chordoma" "" "true" + "obsolete dentinogenesis imperfecta" "" "true" + "primary syphilis" "The subclinical or symptomatic stage of syphilis, occurring at an average of three weeks after contact with an infected individual. It manifests with one or more painless, indurated ulcers (chancres) of the skin or mucous membranes at the site of inoculation. These lesions heal spontaneously within a few weeks." "" + "secondary syphilis" "The secondary stage of syphilis typically that is characterized by generalized rash (including palms and soles), mucocutaneous lesions, and lymphadenopathy. It usually begins one to two months after the primary stage." "" + "differentiating neuroblastoma" "A neuroblastoma in which the differentiating neuroblasts constitute more than five-percent of the tumor cells." "" + "cerebral neuroblastoma" "A neuroblastoma arising from the cerebral hemispheres." "" + "intracranial primitive neuroectodermal tumor" "A primitive neuroectodermal tumor that involves the brain." "" + "blood group incompatibility" "" + "obsolete pseudohypoparathyroidism" "" "true" + "echolalia" "A symptom of neurologic or psychiatric dysfunction in which the individual involuntarily and meaninglessly repeats a recently heard word, series of words, or a song." "" + "obsolete scleroderma" "" "true" + "peroneal neuropathy" "Disease involving the common peroneal nerve or its branches, the deep and superficial peroneal nerves. Lesions of the deep peroneal nerve are associated with paralysis of dorsiflexion of the ankle and toes and loss of sensation from the web space between the first and second toe. Lesions of the superficial peroneal nerve result in weakness or paralysis of the peroneal muscles (which evert the foot) and loss of sensation over the dorsal and lateral surface of the leg. Traumatic injury to the common peroneal nerve near the head of the fibula is a relatively common cause of this condition. (From Joynt, Clinical Neurology, 1995, Ch51, p31)" "" + "brain stem glioma" "A neuroglial tumor that arises from the brain stem." "" + "infratentorial cancer" "Malignant neoplasms which arise or occur within the intracranial cavity below the tentorium cerebelli. This includes neoplasms within the brain and/or surrounding spaces." "" + "cerebellar neoplasm" "A benign or malignant (primary or metastatic) tumor involving the cerebellum. -- 2003" "" + "childhood brain stem neoplasm" "A neoplasm that affects the brain stem and occurs during childhood." "" + "childhood infratentorial neoplasm" "A neoplasm that affects the infratentorial region of the brain and occurs during childhood." "" + "infratentorial neoplasm" "A benign or malignant neoplasm that occurs in brain parenchymal tissue below the tentorium cerebelli." "" + "brainstem intraparenchymal clear cell meningioma" "A morphologic variant of meningioma arising from the brain stem. It is characterized by the presence of clear glycogen-rich polygonal cells." "" + "clear cell meningioma" "A WHO grade II morphologic variant of meningioma characterized by the presence of clear glycogen-rich polygonal cells." "" + "posterior cranial fossa meningioma" "A meningioma that affects the posterior cranial fossa." "" + "malignant ovarian Brenner tumor" "A malignant neoplasm that arises from the ovary and is characterized by the presence of an invasive malignant transitional cell component and nests of benign transitional cells in a fibrotic stroma. When the neoplasm is confined to the ovary, the prognosis is good." "" + "congenital structural myopathy" "A group of rare genetic muscle disorders characterized by hypotonia, muscle weakness, and delayed development of motor skills." "" + "uterine corpus endometrial stromal sarcoma" "A uterine corpus sarcoma originating from the endometrial stroma. It is further subdivided into low grade and high grade endometrial stromal sarcoma." "" + "endometrioid stromal sarcoma" "A malignant mesenchymal neoplasm that affects the uterine corpus, and rarely, the ovaries, cervix, and vagina. In the uterine corpus it is classified as low grade or high grade endometrial stromal sarcoma. In the remainder of the anatomic sites it is classified as low grade endometrioid stromal sarcoma." "" + "uterine corpus sarcoma" "A malignant mesenchymal neoplasm arising from the wall of the uterine corpus (uterine body). The most representative examples are leiomyosarcoma and endometrial stromal sarcoma." "" + "smooth muscle cancer" "A malignant neoplasm arising from smooth muscle." "" + "smooth muscle tumor" "A benign or malignant myomatous neoplasm arising from smooth muscle." "" + "obsolete extraosseous Ewing's sarcoma" "" "true" + "clear cell sarcoma" "A rare malignant neoplasm with melanocytic differentiation characterized by the presence of polygonal or spindle shaped clear cells. This sarcoma usually affects the tendons and aponeuroses and is associated with a poor prognosis due to recurrences and metastases." "" + "malignant spindle cell neoplasm" "A malignant neoplasm characterized by the presence of atypical spindle cells." "" + "pulmonary immaturity" "" + "conjunctivochalasis" "" + "obsolete conjunctival disease" "" "true" + "intravascular angioleiomyoma" "A morphologic variant of angioleiomyoma characterized by the adherence of neoplastic smooth muscle cells to the walls of vascular channels." "" + "angioleiomyoma" "A benign, slow-growing neoplasm that arises from the dermis or subcutaneous tissue. It is characterized by the presence of well-differentiated smooth muscle cells which are arranged around numerous vessels." "" + "vascular neoplasm" "A benign, intermediate, or malignant neoplasm arising from vascular tissue including arteries, veins, venous sinuses, lymphatic vessels, arterioles and capillaries. It may occur in essentially any body location and is characterized by the presence of vascular channel formation and endothelial cells." "" + "penis basal cell carcinoma" "A basal cell carcinoma of the penis with an indolent clinical course. It is usually superficial and arises from the shaft and rarely the glans." "" + "skin basal cell carcinoma" "The most frequently seen skin cancer. It arises from basal cells of the epidermis and pilosebaceous units. Clinically it is divided into the following types: nodular, ulcerative, superficial, multicentric, erythematous, and sclerosing or morphea-like. More than 95% of these carcinomas occur in patients over 40. They develop on hair-bearing skin, most commonly on sun-exposed areas. Approximately 85% are found on the head and neck and the remaining 15% on the trunk and extremities. Basal cell carcinoma usually grows in a slow and indolent fashion. However, if untreated, the tumor may invade the subcutaneous fat, skeletal muscle and bone. Distant metastases are rare. Excision, curettage and irradiation cure most basal cell carcinomas." "" + "squamous cell carcinoma of penis" "A squamous cell carcinoma arising from the penis. It occurs chiefly in the squamous epithelium of the glans, coronal sulcus, and foreskin. Etiologic factors include phimosis, lichen sclerosus, smoking, ultraviolet irradiation, history of warts or condylomas, and lack of circumcision. Human papilloma virus is present in a subset of penile squamous cell carcinomas. Patients may present with an exophytic or flat ulcerative mass in the glans or a large primary tumor with inguinal nodal and skin metastases. Morphologic variants include the basaloid carcinoma, warty (condylomatous) carcinoma, verrucous carcinoma, and sarcomatoid (spindle cell) carcinoma. (WHO, 2004)" "" + "scrotum basal cell carcinoma" "A scrotal carcinoma that involves the basal cell." "" + "nodular basal cell carcinoma" "A basal cell carcinoma of the skin that often appears as elevated nodules which may become ulcerated." "" + "metatypical basal cell carcinoma" "A skin carcinoma displaying cytological characteristics intermediate to nodular basal cell carcinoma and squamous cell carcinoma." "" + "skin pigmented basal cell carcinoma" "A basal cell carcinoma that contains large amounts of melanin. The melanin is produced by symbiotic nontumoral proliferating melanocytes. - 2002." "" + "anal margin basal cell carcinoma" "A basal cell carcinoma arising from the perianal skin. Local excision is the treatment of choice. Metastases are extremely rare." "" + "sebaceous basal cell carcinoma" "" + "external ear basal cell carcinoma" "A basal cell carcinoma that arises from the skin of the external ear." "" + "external ear squamous cell carcinoma" "A squamous cell carcinoma that arises from the skin of the external ear." "" + "external ear carcinoma" "A carcinoma that arises from epithelial cells of the external ear" "" + "external ear cancer" "A malignant neoplasm involving the external ear." "" + "micronodular basal cell carcinoma" "A basal cell carcinoma of the skin characterized by the presence of small nodules that permeate the dermis. It presents as an elevated or flat infiltrating tumor, usually in the back." "" + "gynatresia" "A congenital or acquired occlusion of an opening in any part of the female genital tract." "" + "adamantinoid basal cell epithelioma" "" + "skin fibroepithelial basal cell carcinoma" "A variant of basal cell carcinoma presenting as an elevated or erythematous nodular lesion usually in the back. Morphologically, it is characterized by the presence of cords of basaloid cells extending from the epidermis into the dermis, creating a fenestrating pattern. It follows an indolent course." "" + "morpheaform basal cell carcinoma" "A histologic variant of basal cell carcinoma of the skin characterized by the presence of strands and nests of malignant cells that are embedded in a dense fibrotic stroma." "" + "skin clear cell basal cell carcinoma" "A morphologic variant of basal cell carcinoma characterized by the presence of clear cells." "" + "skin adenoid basal cell carcinoma" "A variant of basal cell carcinoma morphologically characterized by the presence of thin strands of basaloid cells forming a reticulate pattern." "" + "tonsil cancer" "A primary or metastatic malignant neoplasm that affects the tonsil." "" + "follicular basal cell carcinoma" "" + "skin infiltrative basal cell carcinoma" "A variant of basal cell carcinoma presenting as a pale, indurated plaque, usually in the upper trunk or face. Morphologically, it is characterized by the presence of strands, cords, and columns of basaloid cells infiltrating the dermis. Perineural invasion may be present and the basaloid cell infiltrate may extend into deeper tissues." "" + "superficial multifocal basal cell carcinoma" "A superficial basal cell carcinoma of the skin characterized by the presence of lobules of basaloid cells which are separated by large distances and represent multifocal discrete tumors." "" + "vulva basal cell carcinoma" "A slow growing, locally infiltrating carcinoma that arises from the vulva. It is characterized by the presence of malignant cells that resemble the basal cells that are present in the epidermis." "" + "skin cystic basal cell carcinoma" "" + "sarcomatoid basal cell carcinoma" "" + "sarcomatoid squamous cell carcinoma" "A poorly differentiated squamous cell carcinoma characterized by the presence of malignant cells with spindle cell features." "" + "signet ring basal cell carcinoma" "" + "radiculopathy" "Disease involving a spinal nerve root (see spinal nerve roots) which may result from compression related to intervertebral disk displacement; spinal cord injuries; spinal diseases; and other conditions. Clinical manifestations include radicular pain, weakness, and sensory loss referable to structures innervated by the involved nerve root." "" + "polyradiculopathy" "A radiculopathy that is present in more than one nerve." "" + "polyradiculoneuropathy" "Diseases characterized by injury or dysfunction involving multiple peripheral nerves and nerve roots. The process may primarily affect myelin or nerve axons. Two of the more common demyelinating forms are acute inflammatory polyradiculopathy (guillain-barre syndrome) and polyradiculoneuropathy, chronic inflammatory demyelinating. Polyradiculoneuritis refers to inflammation of multiple peripheral nerves and spinal nerve roots." "" + "large cell acanthoma" "" + "epidermolytic acanthoma" "A benign epithelial verrucous lesion of the skin. Morphologically, it is characterized by the presence of epidermolytic hyperkeratosis and papillomatosis." "" + "acantholytic acanthoma" "A benign epithelial neoplasm of the skin. It presents as a papular or nodular lesion. Morphologically, it is characterized by the presence of hyperkeratosis, acanthosis, papillomatosis, and prominent acantholysis." "" + "obsolete non-Langerhans-cell histiocytosis" "" "true" + "parovarian cyst" "A cyst (cysts) near the ovary, derived from anomalies of the fallopian tubes or the broad ligament. The paramesonephric type consists of ciliated cells similar to the oviduct epithelium. The mesonephric type consisted of an epithelium with minimally surface structures. They can be found on the thin oviduct (paratubal cysts) or near its fimbriated end (hydatid of Morgagni)." "" + "embryonic cyst of fallopian tube" "" + "splenic manifestation of prolymphocytic leukemia" "A prolymphocytic leukemia that involves the spleen." "" + "splenic manifestation of leukemia" "A leukemia (disease) that involves the spleen." "" + "dermatophytosis of scalp or beard" "Dermatophytosis involving the stratum corneum of the skin of the scalp and beard area." "" + "scalp disease" "A disease or disorder that involves the scalp." "" + "lymphocele" "A cystic lesion containing lymph. It usually results from injury, gynecologic surgery, or urologic surgery." "" + "ciliary body cancer" "A malignant neoplasm involving the ciliary body." "" + "ciliary body neoplasm" "A neoplasm (disease) that involves the ciliary body." "" + "ciliary body disease" "A disease involving the ciliary body." "" + "amelanotic melanoma" "A melanoma characterized by the complete absence of melanin pigment in the melanoma cells. It occurs more frequently on the face and it is often associated with desmoplastic reaction." "" + "posterior mediastinum cancer" "A malignant neoplasm involving the posterior mediastinum." "" + "epithelioid cell melanoma" "A melanoma characterized by the presence of malignant large epithelioid melanocytes." "" + "cervical cancer" "A primary or metastatic malignant neoplasm involving the cervix." "" + "malignant breast melanoma" "A melanoma that arises usually from the breast skin and less often from the breast glandular tissue. Primary breast melanomas are rare." "" + "stomach diverticulosis" "A pathological condition characterized by the presence of a number of gastric diverticula in the stomach." "" + "orbit alveolar rhabdomyosarcoma" "A malignant mesenchymal neoplasm that arises in the orbit. It is characterized by the presence of round cells with myoblastic differentiation and a fibrovascular stroma." "" + "papillary squamous carcinoma" "A well differentiated squamous cell carcinoma characterized by a papillary, exophytic growth pattern and hyperkeratosis. The most commonly affected anatomic sites are the larynx, penis, cervix, vagina, and vulva." "" + "obsolete myofibroma" "" "true" + "peripheral primitive neuroectodermal tumor of bone" "A small round cell tumor with neural differentiation arising from the bone. It may be associated with pain." "" + "peripheral primitive neuroectodermal tumor" "A small round cell tumor with neural differentiation arising from the soft tissues or bone." "True" + "peripheral primitive neuroectodermal tumor of soft tissues" "A small round cell tumor with neural differentiation arising from the soft tissues." "" + "extraskeletal Ewing sarcoma/peripheral primitive neuroectodermal tumor" "A spectrum of malignant tumors arising from the soft tissues, characterized morphologically by the presence of small round cells. Ewing sarcoma and peripheral primitive neuroectodermal tumor represent the ends of a spectrum, with Ewing sarcoma lacking evidence of neural differentiation and the markers that characterize the peripheral primitive neuroectodermal tumor. Ewing sarcoma and peripheral primitive neuroectodermal tumor may share cytogenetic abnormalities, proto-oncogene expression, cell culture and immunohistochemical abnormalities. Pain and the presence of a mass are the most common clinical symptoms." "" + "extraskeletal Ewing sarcoma" "A rare malignant neoplasm of the soft tissues. It is typically a disease of children and young adults. Most commonly occurs in the paravertebral region, chest wall, pelvis and lower extremities. Treatment includes local excision with consideration for post-operative chemotherapy and/or radiotherapy." "" + "obsolete neuromuscular junction disease" "" "true" + "reticulohistiocytic granuloma" "A rare cutaneous lesion composed of eosinophilic histiocytes, which are often multinucleated. The lesions are yellow-brown papules affecting any part of the body. Patients are usually adult men. The prognosis is excellent. -- 2003" "" + "obsolete pustulosis of palm and sole" "" "true" + "obsolete neuromuscular disease" "" "true" + "spongiotic dermatitis" "A chronic inflammatory skin condition characterized by itchiness and a rash in the chest and abdominal areas. It affects males more than females and is usually contracted at a relatively young age. It is thought to be caused by an allergic reaction to food, insect bites, or medication." "" + "cervix melanoma" "An aggressive malignant tumor of melanocytic origin that arises from the cervix." "" + "benign fibrous histiocytoma" "A benign neoplasm composed of fibroblastic spindle cells in a whorled storiform pattern. It is characterized by the presence of foam cells, inflammatory cells, hemosiderin deposition and stromal hemorrhage." "" + "benign deep fibrous histiocytoma" "A rare, well-circumscribed, pseudo-encapsulated benign fibrous histiocytoma that arises entirely within the subcutaneous tissue or deep soft tissue. It usually affects the extremities or the head and neck region. It recurs locally in a minority of cases." "" + "adenocarcinofibroma" "A carcinoma arising from the ovary. It is characterized by the presence of malignant epithelial cells in a fibrotic stroma. Histologic variants include clear cell, serous, mucinous, and endometrioid adenocarcinofibroma." "" + "obsolete juvenile xanthogranuloma" "" "true" + "pancreatic somatostatinoma" "A neuroendocrine tumor arising from the delta cells of the pancreas. It is characterized by inappropriate secretion of somatostatin and associated with diabetes mellitus, hypochlorhydria, gallbladder disease, diarrhea, steatorrhea, anemia, and weight loss." "" + "pancreatic delta cell neuroendocrine tumor" "A usually malignant neuroendocrine tumor arising from the delta cells of the pancreas. It may be associated with inappropriate secretion of somatostatin and an associated clinical syndrome, or it may be hormonally inactive (non-functioning)." "" + "pancreatic neuroendocrine tumor" "Pancreatic endocrine tumor, also known as pancreatic neuroendocrine tumor (PNET), describes a group of endocrine tumors originating in the pancreas that are usually indolent and benign, but may have the potential to be malignant. They can be functional, exhibiting a hormonal hypersecretion syndrome, but can be non-functional presenting with non-specific symptoms and include insulinoma, glucagonoma, VIPoma, somatostatinoma (SSoma), PPoma and Zollinger-Ellison syndrome (ZES, or gastrinoma) and other ectopic hormone producing tumors (such as GRFoma)." "" + "small intestine neuroendocrine neoplasm" "A neoplasm with neuroendocrine differentiation that arises from the small intestine. It includes well differentiated neuroendocrine tumors (low and intermediate grade) and poorly differentiated neuroendocrine carcinomas (high grade)." "" + "cavernous sinus meningioma" "A meningioma that affects the cavernous sinus." "" + "skull base meningioma" "A meningioma that arises from the skull base." "" + "anterior cranial fossa meningioma" "A meningioma that affects the anterior cranial fossa." "" + "extragonadal germinoma" "" + "germ cell tumor" "A benign or malignant, gonadal or extragonadal neoplasm that originates from germ cells. Representative examples include teratoma, seminoma, embryonal carcinoma, and yolk sac tumor." "" + "extragonadal germ cell tumor" "A germ cell tumor arising in an anatomic site other than the testis or ovary (e.g., central nervous system, lung, mediastinum, and retroperitoneum)." "" + "seminoma" "A radiosensitive malignant germ cell tumor found in the testis (especially undescended), and extragonadal sites (anterior mediastinum and pineal gland). It is characterized by the presence of uniform cells with clear or dense cytoplasm which contains glycogen, and by a large nucleus which contains one or more nucleoli. The neoplastic germ cells form aggregates separated by fibrous septa. The fibrous septa contain chronic inflammatory cells, mainly lymphocytes." "" + "dysgerminoma" "A malignant germ cell tumor characterized by the presence of a monotonous primitive germ cell population. The neoplastic cells form aggregates and have an abundant pale cytoplasm and uniform nuclei. The aggregates of the germ cells are separated by fibrous septa which contain inflammatory cells, mostly T-lymphocytes. It arises primarily in the ovaries, but can occur both primarily and secondarily at other sites, particularly the central nervous system. It responds to chemotherapy and radiotherapy. Its prognosis is related to the tumor stage." "" + "cervical alveolar soft part sarcoma" "An alveolar soft part sarcoma arising from the cervix." "" + "alveolar soft part sarcoma" "An alveolar soft part sarcoma occurring in adults. The most common site of involvement is the extremity, particularly the deep soft tissues of the thigh." "" + "sarcoma of cervix uteri" "A sarcoma involving a uterine cervix." "" + "macular retinal edema" "Accumulation of intraretinal fluid and protein in the macula, which may result in swelling and decreased central vision." "" + "retinal edema" "" + "obsolete Bartter disease" "" "true" + "childhood kidney cell carcinoma" "A renal cell carcinoma that occurs during childhood." "" + "renal cell carcinoma" "A carcinoma that arises from glandular epithelial cells of the kidney" "" + "renal cell adenocarcinoma" "A carcinoma arising from the renal parenchyma. There is a strong correlation between cigarette smoking and the development of renal cell carcinoma. The clinical presentation includes : hematuria, flank pain and a palpable lumbar mass. A high percentage of renal cell carcinomas are diagnosed when an ultrasound is performed for other purposes. Radical nephrectomy is the standard intervention procedure. Renal cell carcinoma is generally considered to be resistant to radiation treatment and chemotherapy." "" + "childhood malignant kidney neoplasm" "A malignant neoplasm that affects the kidney and occurs in childhood." "" + "hereditary renal cell carcinoma" "An instance of renal cell carcinoma (disease) that is caused by an inherited modification of the individual's genome." "" + "hyperaldosteronism" "Overproduction of aldosterone by the adrenal glands, which may lead to hypokalemia and/or hypernatremia." "" + "adrenal gland hyperfunction" "Excess production of adrenal cortex hormones." "" + "multilocular clear cell renal cell carcinoma" "A rare type of renal cell carcinoma. It is a well-circumscribed multicystic mass without solid areas. The inner lining of the cystic structures is composed of clear cells." "" + "clear cell renal carcinoma" "A malignant epithelial neoplasm of the kidney characterized by the presence of lipid-containing clear cells within a vascular network. The tumor may metastasize to unusual sites and late metastasis is common." "" + "mucinous tubular and spindle renal cell carcinoma" "A low grade carcinoma of the kidney characterized by the presence of tubules which are separated by mucinous stroma. Often the tubular structures have a spindle cell appearance. Patients are usually asymptomatic and occasionally they may present with hematuria or flank pain." "" + "sarcomatoid renal cell carcinoma" "A high grade carcinoma of the kidney. It is not a distinct clinicopathological entity and includes a diverse group of renal cell carcinomas which have been transformed from a lower to a higher grade." "" + "obsolete pseudohypoaldosteronism" "" "true" + "rhinitis" "An inflammation of the mucous membrane lining the nose, usually associated with nasal discharge." "" + "obsolete malignant biphasic mesothelioma" "" "true" + "obsolete sarcomatoid mesothelioma" "" "true" + "malignant peritoneal solitary fibrous tumor" "A malignant form of peritoneal solitary fibrous tumor." "" + "peritoneal solitary fibrous tumor" "A rare, usually benign fibroblastic neoplasm that arises from the peritoneum. It is characterized by the presence of prominent hemangiopericytoma-like vessels." "" + "obsolete myotonic disease" "" "true" + "potassium deficiency disease" "Any disorder caused by an insufficient amount or availability of potassium, which generally manifests with myalgia, tetany, hypotension, polyuria, and polydipsia." "" + "nutritional disorder" "Any condition related to a disturbance between proper intake and utilization of nourishment." "" + "obsolete orofaciodigital syndrome" "" "true" + "central nervous system angiosarcoma" "A malignant vascular neoplasm arising from the brain, spinal cord or meninges." "" + "pediatric angiosarcoma" "An angiosarcoma occurring in childhood." "" + "aorta angiosarcoma" "A malignant vascular neoplasm arising from the aorta." "" + "aortic malignant tumor" "A cancer that involves the aorta." "" + "breast angiosarcoma" "A malignant vascular neoplasm arising from the breast." "" + "conventional angiosarcoma" "An angiosarcoma characterized by the presence of malignant spindle endothelial cells." "" + "gallbladder angiosarcoma" "An angiosarcoma that is located in the gallbladder." "" + "thyroid gland angiosarcoma" "A usually aggressive malignant vascular tumor primarily involving the thyroid gland. It is often associated with longstanding nodular goiter." "" + "thyroid sarcoma" "A malignant soft tissue neoplasm primarily involving the thyroid gland." "" + "skin angiosarcoma" "A malignant vascular neoplasm arising from the skin." "" + "endometrioid stromal sarcoma of the cervix" "A rare sarcoma that arises from the cervix. This category includes low grade endometrioid stromal sarcoma and undifferentiated endocervical sarcoma." "" + "endometrioid stromal and related neoplasms of the cervix" "A category of rare neoplasms that arise from the cervix. It includes low grade endometrioid stromal sarcoma and undifferentiated endocervical sarcoma." "" + "superior vena cava angiosarcoma" "A malignant vascular neoplasm arising from the superior vena cava." "" + "great vessel cancer" "A malignant neoplasm arising from the great vessels." "" + "prostate angiosarcoma" "A malignant vascular neoplasm arising from the prostate." "" + "mediastinum angiosarcoma" "A malignant vascular neoplasm arising from the mediastinum." "" + "ovarian angiosarcoma" "A malignant vascular neoplasm arising from the ovary." "" + "cystic, mucinous, and serous neoplasm" "Neoplasms containing cyst-like formations or producing mucin or serum." "" + "dysgraphia" "Loss or impairment of the ability to write (letters, syllables, words, or phrases) due to an injury to a specific cerebral area or occasionally due to emotional factors. This condition rarely occurs in isolation, and often accompanies aphasia. (From Adams et al., Principles of Neurology, 6th ed, p485; apa, Thesaurus of Psychological Index Terms, 1994)" "" + "nominal aphasia" "Impaired ability to retrieve words; in particular, an inability to recall the names of objects and people." "" + "retrograde amnesia" "The loss of access to memories that were previously encoded; this disorder is most commonly preceded by trauma, including physical brain injury, stroke, or seizure, but may also be psychogenic in origin. Memory loss may be temporary or permanent, but the ability to encode new memories or skills is not generally affected." "" + "pediatric mesenchymal chondrosarcoma" "A mesenchymal chondrosarcoma occurring in children." "" + "mesenchymal chondrosarcoma" "A morphologic variant of chondrosarcoma arising from bone and soft tissue. It is characterized by the presence of malignant small round cells, biphasic growth pattern, and well differentiated hyaline cartilage. Clinical presentation includes pain and swelling. The clinical course is aggressive, with local recurrences and distant metastases." "" + "adult mesenchymal chondrosarcoma" "A mesenchymal chondrosarcoma occurring in adults." "" + "obsolete extraskeletal mesenchymal chondrosarcoma" "A rare malignant tumor of soft tissue characterized by a bimorphic pattern composed of undifferentiated small round cells and islands of well differentiated hyaline cartilage." "" "true" + "obsolete extraosseous chondrosarcoma" "A chondrosarcoma that is located in exclusively soft tissue." "" "true" + "anal gland neoplasm" "Tumors or cancer of the anal gland." "" + "thymic large cell neuroendocrine carcinoma" "An aggressive, non-small cell, poorly differentiated thymic neuroendocrine carcinoma, characterized by the presence of a high mitotic rate and, almost always, necrosis." "" + "large cell neuroendocrine carcinoma" "A usually aggressive carcinoma composed of large malignant cells which display neuroendocrine characteristics. It is characterized by the presence of high mitotic activity and necrotic changes. The vast majority of cases are positive for neuron-specific enolase. Representative examples include lung, breast, cervical, and thymic neuroendocrine carcinomas." "" + "thymic neuroendocrine carcinoma" "Thymic neuroendocrine carcinoma is a type of thymic epithelial neoplasm displaying evidence of neuroendocrine differentiation." "" + "obsolete type C thymoma" "" "true" + "ovarian large-cell neuroendocrine carcinoma" "A carcinoma that arises from the ovary and is characterized by the presence of large malignant cells exhibiting neuroendocrine differentiation. The prognosis is poor." "" + "lung large cell carcinoma" "A poorly differentiated non-small cell lung carcinoma composed of large polygonal cells without evidence of glandular or squamous differentiation. There is a male predilection." "" + "large cell carcinoma" "A malignant epithelial neoplasm composed of large, atypical cells." "" + "non-small cell lung carcinoma" "A group of at least three distinct histological types of lung cancer, including non-small cell squamous cell carcinoma, adenocarcinoma, and large cell carcinoma. Non-small cell lung carcinomas have a poor response to conventional chemotherapy." "" + "non specific chronic endometritis" "Chronic endometritis characterized by the presence of plasmacytic infiltrates in the endometrium. There are no granulomas present." "" + "chronic endometritis" "A non-granulomatous or granulomatous chronic inflammation of the endometrium. Causes include sexually transmitted pathogens and gynecological procedures. Patients may present with irregular bleeding." "" + "granulomatous endometritis" "Chronic inflammation of the endometrium characterized by the presence of epithelioid granulomas. Causes include tuberculosis, fungal infections, parasitic infections, and sarcoidosis." "" + "choroid plexus meningioma" "A meningioma that affects the choroid plexus." "" + "benign meningioma" "A grade I, slowly growing meningioma. Only a minority of tumors recur following complete resection." "" + "benign neoplasm of meninges" "A benign neoplasm that involves the meningeal cluster." "" + "secretory meningioma" "A WHO grade I meningioma characterized by the presence of epithelial differentiation and numerous intracellular PAS positive bodies that are rich in glycogen." "" + "lymphoplasmacyte-rich meningioma" "A WHO grade I meningioma characterized by the presence of prominent chronic inflammatory infiltrates that predominate over the meningioma cells." "" + "pediatric meningioma" "A meningioma that occurs during childhood." "" + "microcystic meningioma" "A WHO grade I meningioma characterized by the presence of intercellular microcystic spaces that contain mucinous fluid." "" + "biliary tract cancer" "A malignant neoplasm involving the biliary tree" "" + "bile duct neoplasm" "A benign or malignant neoplasm that affects the intrahepatic or extrahepatic bile ducts. Representative examples of benign neoplasms include bile duct adenoma and extrahepatic bile duct lipoma. Representative examples of malignant neoplasms include intrahepatic and extrahepatic cholangiocarcinoma." "" + "myomatous neoplasm" "A benign or malignant mesenchymal neoplasm arising from smooth, skeletal, or cardiac muscle." "" + "intestinal benign neoplasm" "A benign neoplasm that involves the intestine." "" + "obsolete hydranencephaly" "" "true" + "inverted transitional cell papilloma" "A benign papillary neoplasm composed of transitional cells and characterized by an endophytic growth pattern." "" + "transitional cell papilloma" "A benign papillary neoplasm composed of transitional cells which show preservation of the nuclear polarity." "" + "nasal cavity inverting papilloma" "A benign neoplasm that arises from the ciliated respiratory mucosa that lines the nasal cavity. It results from the invagination and proliferation of epithelial cells in the underlying stroma. Clinical manifestations include nasal obstruction, epistaxis, and anosmia. It has the tendency to recur and extend to adjacent structures. Inverted papillomas are occasionally associated with the development or presence of carcinomas, usually squamous cell carcinomas." "" + "submandibular adenitis" "Inflammation of the submandibular lymph nodes." "" + "cervical lymphadenitis" "Inflammation of the cervical lymph nodes." "" + "sialadenitis" "Sialadenitis is an infection of the salivary glands. It is usually caused by a virus or bacteria. The parotid (in front ofthe ear) and submandibular (under the chin) glands are most commonly affected. Sialadenitis may be associated with pain, tenderness, redness, and gradual, localized swelling of the affected area. Sialadenitis most commonly affects the elderly and chronically ill especially those with dry mouth or who are dehydrated, but can also affected people of any age including newborn babies. Diagnosis is usually made by clinical exam but a CT scan, MRI scan or ultrasound may be done if the doctor suspects an abscess or to look for stones. Treatment may include an antibiotic (if bacterial), warm compresses, increasing fluid intake and good oral hygiene. Most salivary gland infections go away on their own or are cured with treatment. Complications are not common." "" + "postauricular lymphadenitis" "Inflammation of the postauricular lymph nodes." "" + "suppurative lymphadenitis" "A form of lymphadenitis that is characterized by formation of pus; it is most often caused by staphylococcal or streptococcal bacteria." "" + "axillary lymphadenitis" "An infection of the lymph nodes in the axilla." "" + "obsolete epidermolysis bullosa simplex" "" "true" + "retinal cancer" "A malignant neoplasm involving the retina." "" + "retina neoplasm" "A neoplasm (disease) that involves the retina." "" + "trilateral retinoblastoma" "Trilateral retinoblastoma refers to bilateral (or less often unilateral) retinoblastoma associated with an intracranial primitive neuroectodermal tumor in the pineal or suprasellar region. This syndrome is often associated with a increased familial incidence of retinoblastoma. (From Cancer 86(1): 135-141, 1999)." "" + "retinoblastoma" "A malignant tumor that originates in the nuclear layer of the retina. As the most common primary tumor of the eye in children, retinoblastoma is still relatively uncommon, accounting for only 1% of all malignant tumors in pediatric patients. Approximately 95% of cases are diagnosed before age 5. These tumors may be multifocal, bilateral, congenital, inherited, or acquired. Seventy-five percent of retinoblastomas are unilateral; 60% occur sporadically. A predisposition to retinoblastoma has been associated with 13q14 cytogenetic abnormalities. Patients with the inherited form also appear to be at increased risk for secondary nonocular malignancies such as osteosarcoma, malignant fibrous histiocytoma, and fibrosarcoma." "" + "obsolete familial retinoblastoma" "" "true" + "bilateral retinoblastoma" "Retinoblastoma involving both eyes. This occurs in the majority of patients with the inherited variant. A minority of patient with bilateral retinoblastoma were found to have involvement of the pineal gland as well." "" + "unilateral retinoblastoma" "A retinoblastoma that only involves a single eye." "" + "intraocular retinoblastoma" "Retinoblastoma restricted to local involvement." "" + "extraocular retinoblastoma" "Retinoblastoma that has spread beyond the eye e.g. to brain, soft tissue/bone, bone marrow." "" + "mastocytoma" "A localized tumor composed of sheets of mast cells without atypia. It includes the cutaneous mastocytoma which involves the dermis and subcutaneous tissue, and the extracutaneous mastocytoma. Most cases of extracutaneous mastocytoma have been reported in the lung." "" + "obsolete indolent systemic mastocytosis" "" "true" + "filamentary keratitis" "" + "venous hemangioma" "A rare slow growing benign tumor of aberrant and ectatic venous connections." "" + "congenital anomaly of cardiovascular system" "A disease that has its basis in the disruption of cardiovascular system development." "" + "uremic neuropathy" "Neuropathy resulting from uremia." "" + "uremia" "A clinical syndrome associated with the retention of renal waste products or uremic toxins in the blood. It is usually the result of renal insufficiency. Most uremic toxins are end products of protein or nitrogen catabolism, such as urea or creatinine. Severe uremia can lead to multiple organ dysfunctions with a constellation of symptoms." "" + "thymic mucoepidermoid carcinoma" "A rare primary thymic carcinoma, characterized by the presence of squamous cells, intermediate type cells, and mucus-producing cells. Published information on clinical course is limited to single-case reports." "" + "thymus gland adenocarcinoma" "A rare primary thymic carcinoma, characterized by the presence of carcinoma cells with glandular differentiation." "" + "mucoepidermoid breast carcinoma" "A carcinoma of the breast characterized by pools of mucin and islands of malignant squamous cells. Mucoepidermoid carcinomas of the breast are extremely rare." "" + "metaplastic breast carcinoma" "A group of invasive breast carcinomas characterized by the presence of an adenocarcinomatous component which is admixed with a dominant component that is composed of squamous cells, spindle cells, or mesenchymal cells." "" + "intramuscular hemangioma" "A hemangioma arising from skeletal muscle." "" + "deep hemangioma" "A hemangioma arising from the deep soft tissues." "" + "extrahepatic bile duct mucoepidermoid carcinoma" "A mucoepidermoid carcinoma that arises from the extrahepatic bile ducts." "" + "cutaneous mucoepidermoid carcinoma" "A mucoepidermoid carcinoma that involves the zone of skin." "" + "lacrimal gland mucoepidermoid carcinoma" "An extremely rare carcinoma that arises from the lacrimal gland. It is characterized by the presence of infiltrating nests of epidermoid cells and mucus producing cells." "" + "mucoepidermoid esophageal carcinoma" "A rare carcinoma of the esophagus which contains squamous cells, mucus secreting cells, and cells of an intermediate type. (WHO)" "" + "esophageal adenocarcinoma" "A malignant tumor with glandular differentiation arising predominantly from Barrett mucosa in the lower third of the esophagus. Rare examples of esophageal adenocarcinoma deriving from ectopic gastric mucosa in the upper esophagus have also been reported. Grossly, esophageal adenocarcinomas are similar to esophageal squamous cell carcinomas. Microscopically, adenocarcinomas arising in the setting of Barrett esophagus are typically papillary and/or tubular. The prognosis is poor." "" + "obsolete mucoepidermoid thyroid carcinoma" "" "true" + "laryngeal mucoepidermoid carcinoma" "A rare mucoepidermoid carcinoma of the larynx. It usually arises from the supraglottic area. Hoarseness and dysphagia are the presenting symptoms." "" + "childhood mediastinal neurogenic neoplasm" "" + "neoplasm of mediastinum" "A neoplasm (disease) that involves the mediastinum." "" + "obsolete endophthalmitis" "" "true" + "nerve plexus neoplasm" "A neoplasm (disease) that involves the nerve plexus." "" + "obsolete intraneural perineurioma" "" "true" + "obsolete perineurioma" "" "true" + "nerve root neoplasm" "Benign and malignant neoplasms arising from one or more of the cervical, thoracic, lumbar, sacral, or coccygeal nerve roots. The majority of these tumors are benign. Clinical manifestations may include pain, weakness and loss of sensation along the course of the involved nerve root. Large tumors may cause spinal cord compression." "" + "epicardium cancer" "A malignant neoplasm involving the epicardium." "" + "neoplasm of epicardium" "A neoplasm (disease) that involves the epicardium." "" + "obsolete verrucous keratotic hemangioma" "" "true" + "cervicomedullary junction neoplasm" "" + "foramen magnum meningioma" "A meningioma that affects the foramen magnum." "" + "gastric neuroendocrine neoplasm" "A neoplasm with neuroendocrine differentiation that arises from the stomach. It includes well differentiated neuroendocrine tumors (low and intermediate grade) and poorly differentiated neuroendocrine carcinomas (high grade)." "" + "malignant gastric germ cell tumor" "A malignant germ cell tumor that arises from the stomach. It includes choriocarcinoma and immature teratoma." "" + "obsolete bone giant cell sarcoma" "" "true" + "subglottic hemangioma" "A hemangioma arising from the subglottic area." "" + "benign neoplasm of subglottis" "A benign neoplasm that involves the subglottis." "" + "obsolete calciphylaxis" "" "true" + "testicular Brenner tumor" "An uncommon usually benign neoplasm that arises from the testis. It is characterized by the presence of cysts lined by transitional cells and solid nests of transitional cells in a spindle cell stroma." "" + "obsolete histiocytoid hemangioma" "" "true" + "mixed testicular germ cell cancer" "A malignant germ cell tumor that arises from the testis and is characterized by the presence of more than one histologic component. Representative examples include mixed choriocarcinoma and embryonal carcinoma, mixed embryonal carcinoma and seminoma, and mixed yolk sac tumor and teratoma." "" + "malignant testicular germ cell tumor" "A malignant tumor predominantly affecting young men and often associated with cryptorchidism. Seminoma is the most frequently seen malignant testicular germ cell tumor, followed by embryonal carcinoma and yolk sac tumor." "" + "middle cranial fossa meningioma" "A meningioma that affects the middle cranial fossa." "" + "multiple system atrophy" "Multiple system atrophy (MSA) is a neurodegenerative disorder characterized by autonomic failure (cardiovascular and/or urinary), parkinsonism, cerebellar impairment and corticospinal signs with a median survival of 6-9 years." "" + "obsolete multiple system atrophy" "" "true" + "testicular Leydig cell tumor" "A sex cord-stromal tumor that arises from the testis and is characterized by the presence of cells that resemble the successive stages of development of Leydig cells. It usually presents as a painless testicular mass. Gynecomastia is present in approximately thirty percent of the cases. Libido may be decreased. In children, precocious puberty may be present. A minority of cases exhibit malignant characteristics." "" + "tumor of testis and paratestis" "" + "breast hemangioma" "A capillary or cavernous hemangioma arising from the breast." "" + "embryoma" "True" + "classic pulmonary blastoma" "A pulmonary blastoma composed of a mixture of irregular tubular structures and mesenchymal elements." "" + "pulmonary blastoma" "A malignant neoplasm of the lung composed of tubular structures and immature mesenchymal elements, which may differentiate towards skeletal and smooth muscle, cartilage or a combination of muscle and cartilage. This is a nodular tumor found in the periphery of the lung. It can occur at any age. The prognosis is related to the stage of the disease at the time of resection. Pulmonary blastoma is divided into two subtypes: epithelial predominant and biphasic." "" + "epithelial predominant pulmonary blastoma" "A non-encapsulated, well defined pulmonary blastoma, composed of irregular tubular structures. It affects mostly middle-aged adults and it is rare in children. The prognosis is better compared to the biphasic pulmonary blastoma." "" + "mesoblastic nephroma" "A solid, unencapsulated tumor of the kidney composed of spindle mesenchymal cells that resemble fibroblasts or muscle cells. The homogeneous mass typically extends into the renal parenchyma and replaces most of the kidney. In most cases, mesoblastic nephroma is benign and occurs in the fetus or newborn, and rarely in the older child or the adult." "" + "obsolete congenital mesoblastic nephroma" "" "true" + "obsolete rapidly progressive glomerulonephritis" "" "true" + "exudative glomerulonephritis" "Inflammation of the glomeruli with infiltration by polymorphonuclear leukocytes." "" + "focal embolic glomerulonephritis" "Inflammation of a specific segment of glomeruli, which is associated with subacute bacterial endocarditis, and frequently produces microscopic hematuria without azotemia." "" + "anti-basement membrane glomerulonephritis" "Inflammation of the glomeruli secondary to presence of autoantibodies directed at specific antigenic targets within the glomerular basement membrane, causing hematuria, proteinuria, and impaired renal function." "" + "subacute glomerulonephritis" "A term that refers to glomerular damage resulting in hematuria, proteinuria, and azotemia. The histopathologic changes include rapidly progressive glomerulonephritis and membranoproliferative glomerulonephritis." "" + "mesangial proliferative glomerulonephritis" "Mesangial proliferative glomerulonephritis (MPGN) is a condition that affects the kidneys. Many experts consider it a variant of minimal change disease, but some experts believe it is a separate condition. It may present with nephrotic syndrome, which is a group of symptoms that include protein in the urine (proteinuria), low blood protein levels, high cholesterol levels, high triglyceride levels, and swelling. It can also present with blood in the urine (hematuria). MPGN is characterized by an increased number of mesangial cells in the glomeruli in the kidneys and damage to the glomeruli. Glomeruli are the structures that help filter wastes and fluids. MPGN may occur in several renal diseases such as IgA nephropathy (commonly), IgM nephropathy, lupus nephritis, and C1q nephropathy.However, in some cases, the underlying cause of MPGN remains unclear. Treatment may depend on the cause (if known) and may include steroids, mycophenolate mofetil, and/or cyclophosphamide, and other therapies to treat specific symptoms. Most people with MPGN have a good prognosis, but some may develop chronic kidney disease, which can progress to end stage renal failure." "" + "immune-complex glomerulonephritis" "Inflammation of the glomeruli characterized by the accumulation of antibody-antigen immune complexes, resulting in glomerular damage and impaired kidney function." "" + "cerebellopontine angle embryonal tumor" "A central nervous system embryonal tumor, not otherwise specified arising from the cerebellopontine angle of the infratentorial brain." "" + "medulloepithelioma" "A rare, usually aggressive malignant embryonal neoplasm of the central nervous system occurring in children. It is characterized by the presence of neuroepithelial cells which form papillary, trabecular, or tubular structures and absence of C19MC amplification. Symptoms include headache, nausea, and vomiting." "" + "central nervous system Ewing sarcoma/peripheral primitive neuroectodermal tumor" "A rare Ewing sarcoma/peripheral primitive neuroectodermal tumor that affects the central nervous system either as a primary dural neoplasm or by direct extension from adjacent soft tissues or bone." "" + "supratentorial primitive neuroectodermal tumor" "A central nervous system embryonal tumor, not otherwise specified arising from the supratentorial region." "" + "obsolete ependymoblastoma" "" "true" + "space motion sickness" "Disorder characterized by nausea, vomiting, and dizziness, possibly in response to vestibular disorientation or fluid shifts associated with space flight. (From Webster's New World Dictionary)" "" + "motion sickness" "A sensation of discomfort that results from a discordant relationship between visualized movement and any movement sensed by the vestibular system, which is characterized by dizziness, nausea, and vomiting." "" + "obsolete SM-AHNMD" "" "true" + "obsolete aggressive systemic mastocytosis" "" "true" + "obsolete movement disease" "" "true" + "adult brainstem gliosarcoma" "" + "adult brainstem glioma" "A brain stem glioma that occurs in an adult." "" + "adult brain stem neoplasm" "A brainstem neoplasm that occurs in an adult." "" + "hemangioma of peripheral nerve" "A hemangioma arising from the peripheral nerves." "" + "obsolete adenosquamous carcinoma" "" "true" + "disappearing bone disease" "Syndromes of bone destruction where the cause is not obvious such as neoplasia, infection, or trauma. The destruction follows various patterns: massive (Gorham disease), multicentric (hajdu-cheney syndrome), or carpal/tarsal." "" + "malignant myoepithelioma" "An infiltrating malignant tumor characterized by the presence of atypical cells with myoepithelial differentiation. Representative examples include malignant breast myoepithelioma and salivary gland myoepithelial carcinoma." "" + "obsolete sebaceous carcinoma" "An adenocarcinoma with sebaceous differentiation. It presents as a painless mass and it may be multifocal. It grows in the ocular adnexae and in the skin of head and neck, trunk, genitals, and extremities. It is characterized by the presence of malignant cells with multivesicular and clear cytoplasm. It may recur and metastasize." "" "true" + "obsolete benign ependymoma" "" "true" + "obsolete pilomyxoid astrocytoma" "" "true" + "cauda equina intradural extramedullary astrocytoma" "" + "cauda equina neoplasm" "A neoplasm involving a cauda equina." "" + "cerebellar astrocytoma" "Benign and malignant neoplasms of the cerebellum that arise from astrocytes. During childhood the majority are benign pilocytic astrocytomas. In adults both benign and relatively higher grade forms may occur. The most common presenting symptoms are headache, nausea, vomiting, ataxia of gait or limb, paresis, diplopia, and dizziness. Objective signs include weakness, long tract signs, dysmetria, gait ataxia, papilledema, and nystagmus. Surgical resection is often curative." "" + "brain astrocytoma" "A astrocytoma (excluding glioblastoma) that involves the brain." "" + "obsolete pilocytic astrocytoma" "" "true" + "obsolete pleomorphic xanthoastrocytoma" "" "true" + "cerebellar pilocytic astrocytoma" "A WHO Grade 1 astrocytoma which arises in the cerebellum. The tumor is composed of spindle shaped cells with numerous collections of reddish astrocytic fibers called Rosenthal fibers. Over 80% or the cerebellar astrocytomas of childhood are pilocytic. Pilocytic astrocytomas may rarely occur in adults. They are usually treated by surgical resection and in most cases have a favorable prognosis." "" + "pilocytic astrocytoma" "Pilocytic astrocytoma is a rare subtype of low-grade glioma of the central nervous system characterized by a well circumscribed, often cystic, brain tumor with a discrete mural nodule and long, hair-like projections that extend from the neoplastic astrocytes. Depending on the primary localization and the size of the tumor, patients can present with signs of raised intracranial pressure (headache, vomiting, papilledema), blurred vision, decreased visual acuity, ataxia and/or nystagmus, among others. It is most commonly located in the cerebellum, but ocurrence in the hypothalamus, brain stem, optic chiasma, and hemispheres has also been reported." "" + "benign neoplasm of cerebellum" "A benign neoplasm that involves the cerebellum." "" + "diencephalic astrocytomas" "A astrocytoma that involves the diencephalon." "" + "gliofibroma" "An astrocytic tumor affecting young people. Morphologically, it is characterized by the presence of collagenous tissue surrounding neoplastic astrocytes. In some cases the collagen is produced by the tumor cells (desmoplastic astrocytoma), whereas in others it is produced by mesenchymal cells (mixed glioma/fibroma)." "" + "pineal gland astrocytoma" "A astrocytoma that involves the pineal body." "" + "glomeruloid hemangioma" "" + "brain stem astrocytic neoplasm" "An astrocytoma that arises from the brain stem." "" + "spinal cord astrocytoma" "A low or high grade astrocytoma that arises in the spinal cord." "" + "salivary gland adenoid cystic carcinoma" "An adenoid cystic carcinoma arising from the salivary gland. It is characterized by the presence of epithelial and myoepithelial cells forming tubular, cribriform, and solid patterns. It usually presents as a slow growing mass. Patients may experience pain because of the tumor propensity for perineural invasion. The tumor may follow an aggressive clinical course with recurrences and mestastases to distant sites including lungs, bones, brain, and liver." "" + "obsolete cervical adenoid cystic carcinoma" "" "true" + "prostate adenoid cystic carcinoma" "An adenoid cystic carcinoma that arises from the prostate gland." "" + "obsolete laryngeal adenoid cystic carcinoma" "" "true" + "obsolete lacrimal gland adenoid cystic carcinoma" "" "true" + "cutaneous adenocystic carcinoma" "A adenoid cystic carcinoma that involves the skin of body." "" + "sweat gland carcinoma" "A carcinoma arising from the sweat glands. Representative examples include tubular carcinoma, spiradenocarcinoma, eccrine carcinoma, hidradenocarcinoma, and apocrine carcinoma." "" + "lung adenoid cystic carcinoma" "A rare usually indolent lung carcinoma characterized by a cribiform and tubular pattern and the presence of glandular epithelial cells. Clinical symptoms include shortness of breath, cough, wheeze, hemopytsis and chest pain." "" + "obsolete trachea adenoid cystic carcinoma" "" "true" + "adenoid cystic breast carcinoma" "An adenoid cystic carcinoma primarily involving the breast. Three morphologic patterns are seen: cribriform, trabecular, and solid. The prognosis is excellent." "" + "esophageal adenoid cystic carcinoma" "An infrequent esophageal carcinoma arising from esophageal glands. (WHO)" "" + "Bartholin gland adenoid cystic carcinoma" "A carcinoma that arises from the Bartholin gland and is characterized by the presence of islands of uniform malignant cells forming cribriform patterns." "" + "Bartholin gland adenocarcinoma" "A carcinoma that arises from glandular epithelial cells of the major vestibular gland." "" + "obsolete juvenile myoclonic epilepsy" "" "true" + "middle ear adenocarcinoma" "A carcinoma that arises from glandular epithelial cells of the middle ear" "" + "middle ear carcinoma" "A carcinoma that arises from epithelial cells of the middle ear" "" + "middle ear cancer" "A malignant neoplasm involving the middle ear" "" + "rete ovarii adenocarcinoma" "An exceptionally rare adenocarcinoma that arises from the rete ovarii." "" + "rete ovarii neoplasm" "A benign or malignant neoplasm that arises from the rete ovarii which is located in the ovarian hilus. It includes adenoma, cystadenoma, cystadenofibroma, and adenocarcinoma." "" + "adenocarcinoma of liver and intrahepatic biliary tract" "" + "hemangioma of lung" "A hemangioma that involves the lung." "" + "peritoneal serous adenocarcinoma" "A rare, serous adenocarcinoma that arises from the lining of the peritoneum. It affects females. The clinical behavior and pathologic characteristics are similar to the serous adenocarcinoma that arises from the ovary." "" + "serous adenocarcinoma" "An adenocarcinoma that is characterized by the presence of papillary patterns and cellular budding. Psammoma bodies may be present. Representative examples include cervical serous adenocarcinoma, endometrial serous adenocarcinoma, ovarian serous adenocarcinoma, and primary peritoneal serous adenocarcinoma." "" + "appendix carcinoma" "A carcinoma that arises from epithelial cells of the vermiform appendix" "" + "cecum carcinoma" "A carcinoma that arises from epithelial cells of the caecum" "" + "epithelial tumor of the appendix" "A epithelial neoplasm that involves the vermiform appendix." "" + "granular cell carcinoma" "An adenocarcinoma characterized by the presence of malignant epithelial cells with granular cytoplasm." "" + "small intestine carcinoma" "A carcinoma that arises from epithelial cells of the small intestine" "" + "urethra adenocarcinoma" "A carcinoma that arises from glandular epithelial cells of the urethra" "" + "obsolete esophagus adenocarcinoma" "" "true" + "pituitary gland basophilic carcinoma" "" + "pituitary adenocarcinoma" "A rare adenocarcinoma with poor prognosis, arising from the adenohypophysial cells of the anterior lobe of the pituitary gland or pre-existing adenomas. The majority are hormonally functioning neoplasms, usually producing prolactin or ACTH. The diagnosis is based on the presence of metastases. Syndromes associated with pituitary gland carcinomas include hyperprolactinemia, Cushing disease, and acromegaly." "" + "obsolete pituitary carcinoma" "" "true" + "villous adenocarcinoma" "An adenocarcinoma characterized by the presence of a villous architectural pattern. It may arise from a villous adenoma." "" + "renal pelvis adenocarcinoma" "A carcinoma that arises from glandular epithelial cells of the renal pelvis" "" + "renal pelvis carcinoma" "A carcinoma arising in the renal pelvis. The majority of renal pelvis carcinomas are transitional cell and less frequently squamous cell carcinomas." "" + "acquired hemangioma" "A hemangioma that is not present at birth but develops later in life." "" + "obsolete eccrine adenocarcinoma" "" "true" + "breast secretory carcinoma" "A rare, low grade invasive adenocarcinoma of the breast characterized by the presence of cells that secrete milk-like material. Morphologically, it usually appears as a circumscribed lesion, composed of cystic spaces, tubular structures, and solid areas." "" + "intrahepatic cholangiocarcinoma" "A carcinoma that arises from the intrahepatic bile duct epithelium in any site of the intrahepatic biliary tree. Grossly, the malignant lesions are solid, nodular, and grayish. Morphologically, the vast majority of cases are adenocarcinomas. Signs and symptoms include malaise, weight loss, right upper quadrant abdominal pain, and night sweats. Early detection is difficult and the prognosis is generally poor." "" + "cholangiocarcinoma" "A carcinoma that arises from the intrahepatic biliary tree (intrahepatic cholangiocarcinoma) or from the junction, or adjacent to the junction, of the right and left hepatic ducts (hilar cholangiocarcinoma). Grossly, the malignant lesions are solid, nodular, and grayish. Morphologically, the vast majority of cases are adenocarcinomas. Signs and symptoms include malaise, weight loss, right upper quadrant abdominal pain, and night sweats. Early detection is difficult and the prognosis is generally poor." "" + "nasal cavity adenocarcinoma" "A carcinoma that arises from glandular epithelial cells of the nasal cavity" "" + "nasal cavity carcinoma" "A carcinoma that arises from epithelial cells of the nasal cavity" "" + "obsolete ampulla of vater carcinoma" "" "true" + "apocrine adenocarcinoma" "A carcinoma with apocrine differentiation arising from the sweat glands. It presents as single or multiple nodular lesions which may be ulcerated or hemorrhagic and is usually in the axilla and less often in the anogenital region. It grows in the dermis and infiltrates subcutaneous tissues. It is characterized by the presence of large cells with abundant eosinophilic cytoplasm and large often vesicular nuclei. Most cases are slow growing tumors and have a prolonged course." "" + "apocrine sweat gland cancer" "A malignant neoplasm involving the apocrine sweat gland." "" + "ureter adenocarcinoma" "A carcinoma that arises from glandular epithelial cells of the ureter" "" + "obsolete ureter carcinoma" "" "true" + "gastroesophageal junction adenocarcinoma" "A carcinoma that arises from glandular epithelial cells of the esophagogastric junction." "" + "obsolete sclerosing hemangioma" "" "true" + "central nervous system melanocytic neoplasm" "A primary tumor of the central nervous system that arises from leptomeningeal melanocytes. It may present as a diffuse proliferative leptomeningeal process (often as a component of the neurocutaneous melanosis complex) or as a distinct mass lesion." "" + "melanocytic neoplasm" "" + "meninges hemangiopericytoma" "A solitary fibrous tumor/hemangiopericytoma that arises from the meninges." "" + "obsolete spindle cell hemangioma" "" "true" + "obsolete Nelson syndrome" "" "true" + "prosopagnosia" "Impaired ability to recognize other human faces in the absence of a vision disorder. It may be a congenital disorder or the result of brain injury." "" + "obsolete myelodysplastic/myeloproliferative neoplasm" "" "true" + "obsolete lymphedema" "" "true" + "obsolete extraosseous Ewings sarcoma-primitive neuroepithelial tumor" "" "true" + "alcoholic pancreatitis" "Acute or chronic inflammation of the pancreas due to excessive alcohol drinking. Alcoholic pancreatitis usually presents as an acute episode but it is a chronic progressive disease in alcoholics." "" + "pancreatitis" "Inflammation of the pancreas." "" + "essential tremor" "A relatively common disorder characterized by a fairly specific pattern of tremors which are most prominent in the upper extremities and neck, inducing titubations of the head. The tremor is usually mild, but when severe may be disabling. An autosomal dominant pattern of inheritance may occur in some families (i.e., familial tremor). (Mov Disord 1988;13(1):5-10)" "" + "optic nerve astrocytoma" "A astrocytoma (excluding glioblastoma) that involves the cranial nerve II." "" + "optic nerve glioma" "A glioma that affects the optic nerve. This condition can be seen in association with neurofibromatosis 1. It is most commonly seen in the pediatric age group." "" + "optic tract astrocytoma" "An astrocytoma that affects the optic tract. This condition can be seen in association with neurofibromatosis 1. It is most commonly seen in the pediatric age group." "" + "optic pathway glioma" "Optic pathway glioma (OPG) is a benign tumor that develop along the optic nerve (chiasm, tracts, and radiations) characterized by impairment or loss of vision and may be accompanied by diencephalic symptoms such as reduced growth and alteration in sleeping patterns. OPG are often linked to neurofibromatosis type 1 (NF1)." "" + "atypical polypoid adenomyoma" "An adenomyoma characterized by the presence of marked glandular architectural complexity." "" + "adenomyoma" "A benign neoplasm characterized by the presence of a glandular and a mesenchymal (fibromyomatous) component. It occurs in the uterine corpus and the cervix. A variant of adenomyoma associated with glandular architectural complexity is called atypical polypoid adenomyoma. Simple polypectomy is usually curative. Atypical polypoid adenomyoma may recur following polypectomy." "" + "adenomyoma of uterine corpus" "A usually polypoid, benign neoplasm that arises from the uterine corpus. It is characterized by the presence of benign epithelial glands embedded in benign fibromyomatous tissue." "" + "cervical adenomyoma" "A rare, benign, usually polypoid neoplasm that arises from the cervix. It is characterized by the presence of a glandular component and a smooth muscle cell component. Variants include the endocervical type, endometrial type, and atypical polypoid adenomyoma." "" + "obsolete Camurati-Engelmann disease" "" "true" + "obsolete fibrolamellar carcinoma" "" "true" + "hepatocellular clear cell carcinoma" "A morphologic variant of hepatocellular carcinoma characterized by the presence of clear cells." "" + "clear cell adenocarcinoma" "A malignant neoplasm composed of glandular epithelial clear cells. Various architectural patterns may be seen, including papillary, tubulocystic, and solid." "" + "hepatocellular carcinoma" "A malignant tumor that arises from hepatocytes. Hepatocellular carcinoma is relatively rare in the United States but very common in all African countries south of the Sahara and in Southeast Asia. Most cases are seen in patients over the age of 50 years, but this tumor can also occur in younger individuals and even in children. Hepatocellular carcinoma is more common in males than females and is associated with hepatitis B, hepatitis C, chronic alcohol abuse and cirrhosis. Serum elevation of alpha-fetoprotein occurs in a large percentage of patients with hepatocellular carcinoma. Grossly, hepatocellular carcinoma may present as a single mass, as multiple nodules, or as diffuse liver involvement. Microscopically, there is a wide range of differentiation from tumor to tumor (well differentiated to poorly differentiated tumors). Hepatocellular carcinomas quickly metastasize to regional lymph nodes and lung. The overall median survival of untreated liver cell carcinoma is about 4 months. The most effective treatment of hepatocellular carcinoma is complete resection of the tumor. Lately, an increasing number of tumors have been treated with liver transplantation." "" + "aflatoxin-related hepatocellular carcinoma" "A hepatocellular carcinoma that develops following exposure to aflatoxin." "" + "sclerosing hepatic carcinoma" "An uncommon type of hepatocelluar carcinoma, morphologically characterized by significant fibrosis around the sinusoid-like spaces and atrophy of the tumor trabeculae." "" + "obsolete pineal parenchymal tumor of intermediate differentiation" "" "true" + "adult pineal parenchymal tumor" "A pineal parenchymal cell neoplasm (pineocytoma or pineoblastoma) occurring in adults." "" + "pineal parenchymal cell neoplasm" "A neoplasm arising from the pineocyte, a cell with photosensory and neuroendocrine functions. It may be composed of mature elements or primitive, immature cells. The cellular composition determines the biological behavior and clinical outcome. Three types are recognized: pineoblastoma, pineocytoma, and pineal parenchymal tumor of intermediate differentiation (Adapted from WHO.)" "" + "pineal body neoplasm" "A neoplasm (disease) that involves the pineal body." "" + "benign granular cell tumor" "A granular cell tumor that is confined to the site of origin, without metastatic potential." "" + "esophageal granular cell tumor" "A tumor that usually presents with small nodules or small sessile polyps, predominantly in the distal esophagus. Histologically, it is composed of sheets of oval to polygonal cells with a small central nucleus and abundant granular cytoplasm. This is usually a benign tumor. (WHO, 2000) -- 2003" "" + "neoplasm of esophagus" "A neoplasm (disease) that involves the esophagus." "" + "vulvar granular cell tumor" "A usually benign granular cell tumor that arises from the vulva." "" + "cardiac granular cell neoplasm" "A very rare granular cell tumor that arises from the heart." "" + "benign neoplasm of epicardium" "A benign neoplasm that involves the epicardium." "" + "mediastinal granular cell myoblastoma" "An exceptionally rare, generally benign, granular cell tumor that arises from the mediastinum. All the reported cases were located in the posterior mediastinum." "" + "neurohypophysis granular cell tumor" "A generally benign intrasellar and/or suprasellar mass arising from the neurohypophysis or infundibulum. It is composed of nests of large cells with granular, eosinophilic cytoplasm due to abundant intracytoplasmic lysosomes. It generally has a slow progression and lacks invasive growth. (Adapted from WHO)" "" + "posterior pituitary gland neoplasm" "A low-grade neoplasm that arises from the neurohypophysis. It includes the granular cell tumor of the neurohypophysis and pituicytoma." "" + "hobnail hemangioma" "A hemangioma characterized by the presence of hobnail endothelial cells." "" + "obsolete melioidosis" "" "true" + "papillary meningioma of the cerebellum" "A papillary meningioma that affects the cerebellum." "" + "papillary meningioma" "A WHO grade III meningioma characterized by the predominance of a perivascular pseudopapillary pattern." "" + "rhabdoid meningioma" "A WHO grade III meningioma characterized by the predominant presence of rhabdoid cells forming sheets." "" + "basosquamous carcinoma" "A basal cell carcinoma which displays squamous differentiation. The neoplastic cells have more abundant cytoplasm with more marked keratinization than typical basal cell carcinomas. It usually has a more aggressive clinical course compared to typical basal cell carcinoma, and it may produce regional or widespread metastases." "" + "adjustment disorder" "A category of psychiatric disorders which are characterized by emotional or behavioral symptoms that develop within 3 months of a stressor and do not persist for more than an additional 6 months after the stressor is no longer present." "" + "obsolete myxopapillary ependymoma" "" "true" + "mixed glioma" "A tumor composed of two or more glial cell types (astrocytes, ependymal cells, and oligodendrocytes)." "" + "obsolete subependymal giant cell astrocytoma" "" "true" + "obsolete ganglioglioma" "" "true" + "iodine hypothyroidism" "" + "sternum cancer" "A malignant neoplasm involving the sternum" "" + "sternal neoplasm" "A benign or malignant neoplasm that affects the sternum." "" + "malignant ear neoplasm" "A malignant neoplasm that affects the ear. Representative examples include ceruminous adenocarcinoma and squamous cell carcinoma of the external ear and adenocarcinoma of the middle ear." "" + "neoplasm of middle ear" "A neoplasm (disease) that involves the middle ear." "" + "ear neoplasm" "A neoplasm (disease) that involves the ear." "" + "inner ear cancer" "A malignant neoplasm involving the internal ear." "" + "inner ear neoplasm" "A rare neoplasm that arises from the inner ear. Representative examples include lipoma and acoustic schwannoma." "" + "testicular infarct" "Ischemic necrosis of the testis usually caused by torsion of the spermatic cord, trauma, or severe epididymo-orchitis." "" + "swayback" "Congenital locomotor ataxia of lambs, thought to be associated with copper deficiency. It is characterized clinically by progressive incoordination of the hind limbs and pathologically by disruption of neuron and myelin development in the central nervous system. It is caused by a deficiency of metabolizable copper in the ewe during the last half of her pregnancy. (Dorland, 28th ed; Stedman, 26th ed)" "" + "ovarian cystic teratoma" "A teratoma that arises from the ovary and is characterized by the presence of cystic structures. Representative example is the dermoid cyst." "" + "ovarian germ cell tumor" "A neoplasm that arises from the ovary and originates from germ cells. Representative examples include teratoma, embryonal carcinoma, yolk sac tumor, and dysgerminoma." "" + "mature ovarian teratoma" "An ovarian teratoma which may be cystic, composed entirely of well differentiated, adult-type tissues, without evidence of fetal-type tissues." "" + "mediastinum leiomyoma" "A benign smooth muscle neoplasm arising from the mediastium. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern." "" + "benign neoplasm of mediastinum" "A benign neoplasm that involves the mediastinum." "" + "fallopian tube leiomyoma" "A benign smooth muscle neoplasm arising from the fallopian tube. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern." "" + "extrahepatic bile duct leiomyoma" "A benign smooth muscle neoplasm arising from an extrahepatic bile duct. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern." "" + "liver leiomyoma" "A benign smooth muscle neoplasm arising from the liver. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern." "" + "central nervous system leiomyoma" "A benign smooth muscle neoplasm arising from the central nervous system. It is characterized by the presence of intersecting fascicles composed of spindle cells that often lack mitotic activity." "" + "deep leiomyoma" "A rare benign smooth muscle neoplasm arising from deep tissue. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern." "" + "simple partial epilepsy" "" + "leiomyoma cutis" "A benign smooth muscle neoplasm arising from the arrector pili muscle, tunica media of blood vessels, and dartos muscle of the genitalia. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern." "" + "anus leiomyoma" "A well-circumscribed benign smooth muscle neoplasm arising from the anus. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern." "" + "rectum leiomyoma" "A well-circumscribed benign smooth muscle neoplasm arising from the rectum. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern." "" + "benign neoplasm of anus" "A benign neoplasm that involves the anus." "" + "lung leiomyoma" "A benign smooth muscle neoplasm arising from the lung. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern." "" + "pericardium leiomyoma" "A benign smooth muscle neoplasm arising from the pericardium. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern." "" + "benign neoplasm of pericardium" "A benign neoplasm that involves the pericardium." "" + "leiomyomatosis" "A condition characterized by the presence of numerous small benign smooth muscle neoplasms located throughout the body." "" + "cellular leiomyoma" "A morphologic variant of classic leiomyoma characterized by a dense cellular infiltrate composed of spindle or round cells with scant cytoplasm and a less obvious interlacing fascicle pattern." "" + "gallbladder leiomyoma" "A benign smooth muscle neoplasm arising from the gallbladder. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern." "" + "vulvar leiomyoma" "A benign smooth muscle neoplasm arising from the vulva. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern." "" + "appendix leiomyoma" "A well-circumscribed benign smooth muscle neoplasm arising from the appendix. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern." "" + "benign neoplasm of appendix" "A benign neoplasm that involves the vermiform appendix." "" + "dartoic leiomyoma" "A cutaneous leiomyoma arising from the dartos muscle of the scrotum or labia majora." "" + "epithelioid neurofibroma" "A rare neurofibroma with epithelioid morphology." "" + "neurofibroma of gallbladder" "A non-metastasizing encapsulated neoplasm arising from nerves in the gallbladder. Morphologically, it is characterized by the presence of fibroblasts and Schwann cells." "" + "plexiform neurofibroma" "An elongated and multinodular neurofibroma, formed when the tumor involves either multiple trunks of a plexus or multiple fascicles of a large nerve, such as the sciatic. Some plexiform neurofibromas resemble a bag of worms, others produce a massive ropy enlargement of the nerve. (Adapted from WHO.)" "" + "cellular neurofibroma" "A neurofibroma characterized by the presence of areas with increased cellularity." "" + "atypical neurofibroma" "A neurofibroma characterized by the presence of cellular pleomorphism." "" + "multiple mucosal neuroma" "" + "pleural mesothelioma" "A neoplasm that arises from the mesothelial cells of the pleura. The primary cause is exposure to asbestos. The major histologic variants are the epithelioid malignant mesothelioma, desmoplastic malignant mesothelioma, and sarcomatoid malignant mesothelioma. Patients present with persistent cough and shortness of breath." "" + "pleural neoplasm" "A benign or malignant neoplasm that involves the serous membrane that lines the lungs and thoracic cavity. Most pleural neoplasms are metastatic. Diffuse malignant mesothelioma is the most common primary malignant neoplasm of the pleura." "" + "obsolete pleural cancer" "" "true" + "Monckeberg arteriosclerosis" "A type of arteriosclerosis in which calcification of the tunica media is the predominant feature." "" + "endometrial stromal tumor" "Neoplasms of the endometrial stroma that sometimes involve the myometrium. These tumors contain cells that may closely or remotely resemble the normal stromal cells. Endometrial stromal neoplasms are divided into three categories: (1) benign stromal nodules; (2) low-grade stromal sarcoma, or endolymphatic stromal myosis; and (3) malignant endometrial stromal sarcoma (sarcoma, endometrial stromal)." "" + "endometrium neoplasm" "A neoplasm (disease) that involves the endometrium." "" + "ovarian endometrioid stromal and related neoplasms" "A category of rare neoplasms that arise from the ovary. It includes low grade endometrioid stromal sarcoma and undifferentiated sarcoma." "" + "endometrioid stromal and related neoplasms" "A category of mesenchymal gynecologic neoplasms. It includes endometrial stromal nodule, endometrioid stromal sarcoma, and undifferentiated sarcoma. Endometrial stromal nodule has been described in the uterine corpus only. Histologically, it is characterized by the lack of infiltration of the surrounding tissues. Endometrioid stromal sarcoma affects the uterine corpus, and rarely, the ovaries, cervix, and vagina. In the uterine corpus it is classified as low grade or high grade endometrial stromal sarcoma. In the remainder of the anatomic sites it is classified as low grade endometrioid stromal sarcoma. Undifferentiated sarcoma was previously also known as high grade endometrial stromal sarcoma. In 2014, high grade endometrial stromal sarcoma was reclassified and is currently considered a distinct and rare neoplasm that affects the uterine corpus only. It appears to have a prognosis that falls between low grade endometrial stromal sarcoma and undifferentiated sarcoma. The latter affects the uterine corpus and rarely the remainder of the anatomic sites." "" + "endometrioid stromal sarcoma of the vagina" "A rare sarcoma that arises from the vagina. This category includes low grade endometrioid stromal sarcoma and undifferentiated vaginal sarcoma." "" + "endometrioid stromal and related neoplasms of the vagina" "A category of rare neoplasms that arise from the vagina. It includes low grade endometrioid stromal sarcoma and undifferentiated sarcoma." "" + "endometrium carcinoma in situ" "A carcinoma in situ involving a endometrium." "" + "uterus carcinoma in situ" "A carcinoma in situ involving a uterus." "" + "nonanaplastic kidney Wilms tumor" "Wilms tumor of the kidney characterized by the absence of nuclear anaplasia." "" + "kidney Wilms tumor" "An embryonal pediatric tumor of the kidney which may also be seen rarely in adults. The peak incidence of Wilms tumor is between the second and fifth year of life. Microscopically, it is composed of a mixture of cellular elements (blastemal, stromal, and epithelial). The most common sites of metastasis include the regional lymph nodes, lungs, and liver." "" + "metachronous kidney Wilms' tumor" "Wilms tumor arising in the remaining kidney following treatment of the original Wilms tumor." "" + "Wilms tumor 1" "" + "mixed cell type kidney Wilms' tumor" "Wilms tumor of the kidney characterized by the presence of blastema, epithelial, and mesenchymal components (triphasic pattern) or a combination of two of them (biphasic pattern)." "" + "blastema predominant kidney Wilms tumor" "Wilms tumor of the kidney characterized by the predominance of the blastema component." "" + "hereditary Wilms tumor" "Familial embryonal neoplasm derived from nephrogenic blastemal cells. Several lines of differentiation, including blastemal, stromal and epithelial, are usually expressed. Comprises approximately 1% of Wilms tumors. (AFIP fascicle version 2.0)" "" + "epithelial predominant Wilms' tumor" "Wilms tumor of the kidney characterized by the predominance of the epithelial component. The epithelial cells may form papillary and tubular patterns and pseudorosettes." "" + "" "true" + "cervical Wilms tumor" "An embryonal neoplasm arising from the cervix with morphologic features resembling Wilms tumor of the kidney." "" + "obsolete stromal predominant kidney Wilms' tumor" "" "true" + "nodular ganglioneuroblastoma" "A ganglioneuroblastoma characterized by the presence of neuroblastic cells in a Schwannian stroma, and the formation of hemorrhagic neuroblastic nodules." "" + "intermixed schwannian stroma-rich ganglioneuroblastoma" "A ganglioneuroblastoma characterized by the presence of neuroblastic cells in a Schwannian stroma, without the presence of hemorrhagic neuroblastic nodules." "" + "fallopian tube adenomatoid tumor" "A benign neoplasm that arises from the fallopian tube and originates from mesothelial cells. It is characterized by the presence of gland-like structures that are lined by flat or cuboidal cells. It is usually discovered as an incidental finding." "" + "ureteral obstruction" "Blockage in any part of the ureter causing obstruction of urine flow from the kidney to the urinary bladder. The obstruction may be congenital, acquired, unilateral, bilateral, complete, partial, acute, or chronic. Depending on the degree and duration of the obstruction, clinical features vary greatly such as hydronephrosis and obstructive nephropathy." "" + "urinary tract obstruction" "Blockage of the normal flow of contents of the urinary tract." "" + "ovarian teratoma" "A non-seminomatous germ cell tumor arising from the ovary. It is characterized by the presence of various tissues which correspond to the different germinal layers (endoderm, mesoderm, and ectoderm). According to the level of differentiation of the tissues which comprise the tumor, ovarian teratomas are classified as mature or immature. Mature teratomas are composed of well differentiated, adult-type tissues. Immature teratomas are composed of immature, fetal type-tissues. Mature ovarian teratomas without a fetal-type component have an excellent outcome. The prognosis of immature ovarian teratomas is related to the grade and stage of the tumor." "" + "malignant struma ovarii" "An ovarian mature teratoma characterized by the presence of aberrant thyroid tissue with morphologic changes identical to thyroid carcinoma. Patients may present with abdominal mass and unusual symptoms due to thyrotoxicosis, or with Meigs syndrome (ascites and pleural effusion)." "" + "struma ovarii" "An ovarian mature teratoma characterized by the presence of aberrant thyroid tissue. The aberrant thyroid tissue shows morphologic changes identical to thyroid adenoma or carcinoma. Patients may present with abdominal mass and unusual symptoms due to thyrotoxicosis, or Meigs syndrome (ascites and pleural effusion)." "" + "teratoma with malignant transformation" "A teratoma which is characterized by morphologic transformation to malignancy and an aggressive clinical course. The malignant component most often is sarcomatous or carcinomatous." "" + "immature ovarian teratoma" "A malignant germ cell tumor arising from the ovary. It usually affects females in their first two decades of life. It contains variable amounts of immature embryonal tissues. Based on the amount of immature neuroepithelial component, immature teratomas are graded from 1 to 3. The stage and grade of the tumor and the grade of the metastatic tumor are the important factors that predict prognosis. The use of cisplatin-based combination chemotherapy has significantly improved the survival rates of the patients." "" + "benign struma ovarii" "A mature monodermal teratoma that arises from the ovary and is characterized by the presence of benign, thyroid-type tissues." "" + "acute necrotizing encephalitis" "A fulminant and often fatal demyelinating disease of the brain which primarily affects young adults and children. Clinical features include the rapid onset of weakness, seizures, and coma. It may follow a viral illness or mycoplasma pneumoniae infections but in most instances there is no precipitating event. Pathologic examination reveals marked perivascular demyelination and necrosis of white matter with microhemorrhages. (Adams et al., Principles of Neurology, 6th ed, pp924-5)" "" + "acute hemorrhagic encephalitis" "Acute encephalitis that is characterized by bleeding." "" + "obsolete von Economo disease" "" "true" + "obsolete hepatoerythropoietic porphyria" "" "true" + "malignant glomus tumor" "A very rare morphologic variant of glomus tumor with a size greater than 2 cm. The tumor arises in subfascial or visceral tissues. It is characterized by the presence of atypical mitotic figures, or marked nuclear atypia, or the combination of both. It has an aggressive clinical course." "" + "subungual glomus tumor" "A glomus tumor arising in the finger and usually associated with pain." "" + "nail tumor" "A neoplasm involving a nail." "" + "benign perivascular tumor" "A benign mesenchymal neoplasm arising from the perivascular cells of the connective and soft tissues. It is characterized by the presence of pericytes that grow in a circumferential pattern around vessels." "" + "retinal hemangioblastoma" "A hemangioblastoma that arises from the retina. It is typically a sign of von Hippel-Lindau disease. It may also be seen as an isolated entity without systemic involvement." "" + "hemangioblastoma" "Hemangioblastoma is a rare, benign, highly vascularized tumor of the central nervous system, most often located in the cerebellum or spinal cord, presenting in adulthood and manifesting with dizziness, nausea, malaise, headache, bladder or bowel dysfunction, numbness, weakness and pain in the upper or lower extremities, and often associated with von Hippel-Lindau disease (VHL). Exceptional cases of hemangioblastoma arising outside of the central nervous system have been reported." "" + "hemangioma of retina" "A hemangioma that involves the retina." "" + "obsolete hemangioblastoma" "" "true" + "hilar cholangiocarcinoma" "A cholangiocarcinoma that arises from the junction, or adjacent to the junction, of the right and left hepatic ducts." "" + "inflammatory leiomyosarcoma" "A morphologic variant of leiomyosarcoma characterized by the presence of an inflammatory infiltrate admixed with malignant spindle cells." "" + "conventional leiomyosarcoma" "An uncommon, aggressive malignant smooth muscle neoplasm. It is characterized by the presence of atypical large spindle or round cells, nuclear palisading, tumor cell necrosis, mitotic figures and may be associated with vascular invasion." "" + "central nervous system leiomyosarcoma" "An aggressive malignant smooth muscle neoplasm, arising from the central nervous system. It is characterized by a proliferation of neoplastic spindle cells." "" + "malignant central nervous system mesenchymal, non-meningothelial neoplasm" "A metastasizing mesenchymal, non-meningothelial neoplasm that arises from the central nervous system." "" + "granular cell leiomyosarcoma" "An aggressive malignant smooth muscle neoplasm. It is characterized by the presence of malignant smooth muscle cells with granular cytoplasmic changes." "" + "colon leiomyosarcoma" "An aggressive malignant smooth muscle neoplasm that arises from the colon. It is characterized by a proliferation of neoplastic spindle cells." "" + "colon sarcoma" "A malignant soft tissue neoplasm that arises from the colon. Representative examples include angiosarcoma, Kaposi sarcoma, and leiomyosarcoma." "" + "heart leiomyosarcoma" "An aggressive malignant smooth muscle neoplasm, arising from the heart. It is characterized by a proliferation of neoplastic spindle cells." "" + "ovary leiomyosarcoma" "An aggressive malignant smooth muscle neoplasm, arising from the ovary. It is characterized by a proliferation of neoplastic spindle cells." "" + "epithelioid leiomyosarcoma" "A morphologic variant of leiomyosarcoma characterized by the presence of epithelioid round cells with eosinophilic to clear cytoplasm." "" + "lung leiomyosarcoma" "An aggressive malignant smooth muscle neoplasm, arising from the lung. It is characterized by a proliferation of neoplastic spindle cells." "" + "anus leiomyosarcoma" "An aggressive malignant smooth muscle neoplasm, arising from the anus. It is characterized by a proliferation of neoplastic spindle cells." "" + "rectum leiomyosarcoma" "An aggressive malignant smooth muscle neoplasm that arises from the rectum. It is characterized by a proliferation of neoplastic spindle cells." "" + "myxoid leiomyosarcoma" "A morphologic variant of leiomyosarcoma characterized by the presence of cellular pleomorphism, malignant cells with large nuclei, and a myxoid stroma." "" + "small intestine leiomyosarcoma" "An aggressive malignant smooth muscle neoplasm, arising from the small intestine. It is characterized by a proliferation of neoplastic spindle cells." "" + "small intestinal sarcoma" "A malignant soft tissue neoplasm that arises from the small intestine. Representative examples include leiomyosarcoma, angiosarcoma, and Kaposi sarcoma." "" + "mesenchymal tumor of small intestine" "" + "cutaneous leiomyosarcoma" "An aggressive malignant smooth muscle neoplasm, arising from the skin. It is characterized by a proliferation of neoplastic spindle cells." "" + "malignant dermis tumor" "A malignant neoplasm involving the dermis." "" + "gallbladder leiomyosarcoma" "An aggressive malignant smooth muscle neoplasm, arising from the gallbladder. It is characterized by a proliferation of neoplastic spindle cells." "" + "esophagus leiomyosarcoma" "An aggressive malignant smooth muscle neoplasm, arising from the esophagus. It is characterized by a proliferation of neoplastic spindle cells." "" + "gastric leiomyosarcoma" "An aggressive malignant smooth muscle neoplasm, arising from the stomach. It is characterized by a proliferation of neoplastic spindle cells." "" + "prostate leiomyosarcoma" "An aggressive malignant smooth muscle neoplasm, arising from the prostate. It is characterized by a proliferation of neoplastic spindle cells." "" + "vagina leiomyosarcoma" "An aggressive malignant smooth muscle neoplasm, arising from the vagina. It is characterized by a proliferation of neoplastic spindle cells." "" + "retroperitoneal leiomyosarcoma" "An aggressive malignant smooth muscle neoplasm, arising from the retroperitoneum. It is characterized by a proliferation of neoplastic spindle cells." "" + "breast leiomyosarcoma" "An aggressive malignant smooth muscle neoplasm, arising from the breast. It is characterized by a proliferation of neoplastic spindle cells." "" + "vulvar leiomyosarcoma" "An aggressive malignant smooth muscle neoplasm, arising from the vulva. It is characterized by a proliferation of neoplastic spindle cells." "" + "vulva sarcoma" "A malignant mesenchymal neoplasm that arises from the vulva. Representative examples include childhood botryoid-type embryonal rhabdomyosarcoma, alveolar soft part sarcoma, and leiomyosarcoma." "" + "kidney leiomyosarcoma" "An aggressive malignant smooth muscle neoplasm, arising from the kidney. It is characterized by a proliferation of neoplastic spindle cells." "" + "laryngeal leiomyosarcoma" "An aggressive malignant smooth muscle neoplasm, arising from the larynx. It is characterized by a proliferation of neoplastic spindle cells." "" + "obsolete uterus leiomyosarcoma" "" "true" + "mediastinum leiomyosarcoma" "An aggressive malignant smooth muscle neoplasm, arising from the mediastinum. It is characterized by a proliferation of neoplastic spindle cells." "" + "extrahepatic bile duct leiomyosarcoma" "An aggressive malignant smooth muscle neoplasm, arising from an extrahepatic bile duct. It is characterized by a proliferation of neoplastic spindle cells." "" + "liver leiomyosarcoma" "An aggressive malignant smooth muscle neoplasm, arising from the liver. It is characterized by a proliferation of neoplastic spindle cells." "" + "obsolete endometrial clear cell adenocarcinoma" "" "true" + "neuroendocrine disease" "A disease or disorder that affects the neuroendocrine gland, any of the organized aggregations of cells that function as secretory or excretory organs and that release hormones in response to neural stimuli." "" + "fallopian tube clear cell adenocarcinoma" "A rare adenocarcinoma of the fallopian tube composed of malignant glandular epithelium containing clear cells." "" + "uterine ligament clear cell adenocarcinoma" "A clear cell adenocarcinoma of the uterine ligament composed mainly of clear or hobnob cells. The clear cells are large, bizarre, and multinucleated." "" + "cervical clear cell adenocarcinoma" "A rare morphologic variant of cervical adenocarcinoma composed of clear and hobnail cells. It is associated with in utero exposure to diethylstilbestrol (DES)." "" + "obsolete cervical clear cell adenocarcinoma" "" "true" + "bladder clear cell adenocarcinoma" "A rare morphologic variant of bladder adenocarcinoma characterized by the presence of malignant glandular epithelial cells and clear cells distributed in a tubulo-cystic, papillary, or diffuse pattern. There is a female predilection. Clinical presentation includes hematuria and dysuria." "" + "urethra clear cell adenocarcinoma" "A morphologic variant of urethral adenocarcinoma characterized by the presence of tubulocystic or papillary structures lined with clear cuboidal or hobnail cells." "" + "ampulla of vater clear cell adenocarcinoma" "A carcinoma with glandular differentiation arising from the ampulla of Vater. Morphologically, it is characterized by the presence of glycogen-rich cells with hyperchromatic nuclei." "" + "extrahepatic bile duct clear cell adenocarcinoma" "A morphologic variant of extrahepatic bile duct adenocarcinoma characterized by the presence of malignant glandular epithelium composed of clear cells." "" + "epithelial-myoepithelial carcinoma" "A malignant neoplasm which occurs mostly in the major salivary glands (most frequently in the parotid gland), but also in the minor salivary glands of the oral mucosa and the tracheobronchial tree. It is characterized by the presence of ductal structures which are lined by an inner layer of cuboidal epithelial-type cells and an outer layer of myoepithelial cells with clear or eosinophilic cytoplasm." "" + "glycogen-rich clear cell breast carcinoma" "An uncommon, usually aggressive adenocarcinoma of the breast characterized by the presence of clear cells that contain glycogen." "" + "glycogen-rich carcinoma" "A carcinoma characterized by the presence of malignant epithelial cells with abundant clear cytoplasm which contains glycogen. A representative example is the glycogen-rich, clear cell breast carcinoma." "" + "vulvar alveolar soft part sarcoma" "An alveolar soft part sarcoma arising from the vulva." "" + "fallopian tube germ cell tumor" "A rare germ cell tumor that affects the fallopian tube. The vast majority of cases are teratomas." "" + "thymus gland disease" "A non-neoplastic or neoplastic disorder that affects the thymus. Representative examples include thymic hyperplasia, thymoma, and thymic carcinoma." "" + "testicular granulosa cell tumor" "A rare sex cord-stromal tumor that arises from the testis. It is characterized by the presence of granulosa-like cells and Call-Exner bodies. There are two variants described, the adult and the juvenile." "" + "granulosa cell tumor" "A slow-growing, malignant tumor, characterize by the presence of granulosa-like cells and Call-Exner bodies, that is almost always found in the ovary. In rare cases, it has also been found in the testicle. There are two types of granulosa cell tumor that can be distinguished under the microscope: the adult and the juvenile. The testicular juvenile granulosa cell tumors are perhaps the most common congenital testicular neoplasms." "" + "epulis" "A non-neoplastic nodular lesion that arises from the gingiva." "" + "gingival hypertrophy" "Abnormal enlargement or overgrowth of the gingivae brought about by enlargement of existing cells." "" + "anterograde amnesia" "Loss of the ability to form new memories beyond a certain point in time. This condition may be organic or psychogenic in origin. Organically induced anterograde amnesia may follow craniocerebral trauma; seizures; anoxia; and other conditions which adversely affect neural structures associated with memory formation (e.g., the hippocampus; fornix (brain); mammillary bodies; and anterior thalamic nuclei). (From Memory 1997 Jan-Mar;5(1-2):49-71)" "" + "pineal region yolk sac tumor" "A yolk sac tumor that involves the pineal body." "" + "central nervous system endodermal sinus tumor" "A yolk sac tumor that arises from the central nervous system and occurs during childhood." "" + "childhood endodermal sinus tumor" "A yolk sac tumor that occurs during childhood." "" + "malignant childhood germ cell neoplasm" "A malignant germ cell tumor that occurs during childhood." "" + "childhood central nervous system germ cell tumor" "A germ cell tumor of the central nervous system occurring in children." "" + "yolk sac tumor of central nervous system" "A malignant germ cell tumor of the central nervous system composed of primitive-appearing epithelial cells - putatively representing yolk sac endoderm - set in a loose, variably cellular, and often conspicuously myxoid matrix, resembling extra-embryonic mesoblast. Eosinophilic hyaline globules immunoreactive for AFP are a diagnostic feature. (WHO)" "" + "testicular yolk sac tumor" "A non-seminomatous malignant germ cell tumor arising from the testis. It affects infants, young children, and postpubertal males. It is the most frequently seen testicular neoplasm during childhood. The vast majority of patients present with an asymptomatic scrotal mass. The tumor mimics the yolk sac of the embryo and produces alpha-fetoprotein (AFP). It metastasizes to distant anatomic sites. Prognostic factors relate to the clinical stage and the degree of AFP elevation." "" + "testicular non-seminomatous germ cell cancer" "A classification of testicular cancers that arise in specialized sex cells called germ cells. Nonseminomas include embryonal carcinoma, teratoma, choriocarcinoma, and yolk sac tumor." "" + "adult yolk sac tumor" "A yolk sac tumor that occurs in an adult." "" + "adult germ cell tumor" "A germ cell tumor that occurs during adulthood." "" + "adult central nervous system germ cell tumor" "A germ cell tumor of the central nervous system occurring in adults." "" + "sleep disorder" "A change from the patient's baseline sleeping pattern, in the hours slept and/or an alteration/dysfunction in the stages of sleep." "" + "obsolete ovarian yolk sac tumor" "" "true" + "ovarian primitive germ cell tumor" "A malignant tumor that arises from the ovary and is characterized by the presence of malignant germ cell components but lacks a teratoma component." "" + "malignant germ cell tumor of ovary" "Malignant germ cell tumor of ovary is a rare ovarian cancer arising from germ cells in the ovary, frequently unilateral at diagnosis which characteristically presents during adolescence with pelvic mass, fever, vaginal bleeding and acute abdomen." "" + "Wolffian duct adenocarcinoma" "A cervical adenocarcinoma that arises from mesonephric remnants. It is usually characterized by the presence of tubular glands lined by cuboidal epithelial cells." "" + "mesonephric adenocarcinoma" "An adenocarcinoma of the cervix or the vagina arising from mesonephric remnants." "" + "mesonephric neoplasm" "An epithelial neoplasm of the female reproductive system arising from mesonephric remnants." "" + "breast hemangiopericytoma" "A hemangiopericytoma arising from the breast." "" + "retroperitoneal hemangiopericytoma" "A benign or malignant hemangiopericytoma arising from the retroperitoneum." "" + "hair follicle neoplasm" "A benign or malignant neoplasm arising from the hair follicle." "" + "skin pilomatrix carcinoma" "A very rare, locally aggressive, malignant neoplasm of the hair follicle. The majority of the cases arise de novo, however malignant transformation from a pre-existing pilomatricoma has been reported. It usually presents as a solitary nodule in the head and neck, upper extremities, or buttocks. Morphologically, it is characterized by the presence of aggregates of basaloid cells infiltrating the dermis. Masses of ghost cells are present in the cellular aggregates. Complete surgical excision is the treatment of choice. If it is not completely removed, it usually recurs, but it rarely metastasizes to distant anatomic sites." "" + "skin appendage carcinoma" "A carcinoma arising from the sebaceous glands, sweat glands, or the hair follicles. Representative examples include sebaceous carcinoma, apocrine carcinoma, eccrine carcinoma, and pilomatrical carcinoma." "" + "obsolete rare skin tumor or hamartoma" "" "true" + "obsolete hemoglobin d disease" "" "true" + "obsolete hemoglobin E disease" "" "true" + "internuclear ophthalmoplegia" "" + "obsolete bile duct adenoma" "" "true" + "Bartholin gland adenoma" "A rare, benign neoplasm that arises from the Bartholin gland and is characterized by the presence of clustered glands and tubules lined by mucin-secreting epithelial cells." "" + "bile duct adenoma" "A benign, well-demarcated polypoid neoplasm arising from the bile duct epithelium. According to the growth pattern, it is classified as tubular, papillary, or tubulopapillary. Adenomas arising from the extrahepatic bile ducts usually produce symptoms related to biliary obstruction." "" + "mixed cell adenoma" "An adenoma characterized by the presence of a mixed epithelial cell population." "" + "lung adenoma" "A benign, well circumscribed epithelial neoplasm that arises from the bronchus or the lung parenchyma. Representative examples include alveolar adenoma, papillary adenoma, and mucus gland adenoma." "" + "middle ear adenoma" "A benign, well-circumscribed glandular neoplasm that arises from the middle ear and may exhibit neuroendocrine differentiation. It usually presents with conductive hearing loss." "" + "benign neoplasm of middle ear" "A benign neoplasm that involves the middle ear." "" + "oncocytic adenoma" "A benign neoplasm composed of large cells with abundant eosinophilic granular cytoplasm. Representative examples include oncocytic adenomas of the thyroid gland, parathyroid gland, and pituitary gland." "" + "oncocytic neoplasm" "A usually benign neoplasm composed of large cells with abundant eosinophilic granular cytoplasm. Representative examples include oncocytic neoplasms of the thyroid gland, and kidney. (NCI05)" "" + "clear cell adenoma" "A benign neoplasm composed of glands containing epithelial clear cells." "" + "bronchus adenoma" "A benign lung neoplasm characterized by the presence of a fibrovascular stroma lined by cuboidal to columnar cells. Patients are usually asymptomatic and it is incidentally discovered as a pulmonary nodule during chest X-ray examination. Surgical excision is curative." "" + "brain hemangioma" "A hemangioma arising from the brain." "" + "functioning pituitary gland adenoma" "A hormone producing pituitary gland adenoma, associated with a hormonal syndrome." "" + "functioning pituitary gland neoplasm" "A hormone producing pituitary gland tumor, associated with a hormonal syndrome." "" + "pituitary gland adenoma" "A non-metastasizing tumor that arises from the adenohypophysial cells of the anterior lobe of the pituitary gland. The tumor can be hormonally functioning or not. The diagnosis can be based on imaging studies and/or radioimmunoassays. Due to its location in the sella turcica, expansion of the tumor mass can impinge on the optic chiasm or involve the temporal lobe, third ventricle and posterior fossa A frequently associated physical finding is bitemporal hemianopsia which may progress to further visual loss." "" + "prolactin producing pituitary tumor" "An adenoma or carcinoma of the anterior lobe of the pituitary gland that produces prolactin." "" + "lipoadenoma" "An adenoma in which the neoplastic epithelial cells are admixed with adipose tissue cells." "" + "hyperopia" "A refractive error in which rays of light entering the eye parallel to the optic axis are brought to a focus behind the retina, as a result of the eyeball being too short from front to back. It is also called farsightedness because the near point is more distant than it is in emmetropia with an equal amplitude of accommodation. (Dorland, 27th ed)" "" + "water-clear cell adenoma" "A rare parathyroid gland adenoma composed of neoplastic cells with abundant cytoplasm. The cytoplasm of the neoplastic cells is usually not entirely clear, and is often variably vacuolated, foamy, and granular." "" + "vaginal adenoma" "A glandular epithelial neoplasm that arises from the vagina and shows intestinal differentiation." "" + "microcystic adenoma" "A benign epithelial neoplasm characterized by a microcystic pattern. The cystic spaces are lined by small cuboidal cells without evidence of significant cytologic atypia." "" + "obsolete lung oat cell carcinoma" "" "true" + "occult small cell lung carcinoma" "A small cell lung carcinoma detectable by sputum cytology only. The primary tumor is undetectable radiographically or during bronchoscopy; therefore, it can not be assessed." "" + "small cell lung carcinoma" "Small cell lung cancer (SCLC) is a highly aggressive malignant neoplasm, accounting for 10-15% of lung cancer cases, characterized byrapid growth, and early metastasis. SCLC usually manifests as a large hilar mass with bulky mediastinal lymphadenopathy presenting clinically with chest pain, persistent cough, dyspnea, wheezing, hoarseness, hemoptysis, loss of appetite, weight loss, and neurological and endocrine paraneoplastic syndromes. SCLC is primarily reported in elderly people with a history of long-term tobacco exposure." "" + "combined lung carcinoma" "A lung carcinoma characterized by the presence of large or small neuroendocrine carcinoma cells in combination with malignant glandular or squamous epithelial cells." "" + "urinary bladder villous adenoma" "An exophytic glandular neoplasm of the bladder, morphologically similar to its intestinal counterpart. It often coexists with in situ or infiltrating bladder adenocarcinoma." "" + "obsolete bladder flat intraepithelial lesion" "" "true" + "bladder papillary urothelial neoplasm" "A papillary epithelial neoplasm that involves the urinary bladder urothelium." "" + "papillary urothelial neoplasm" "A neoplastic lesion of the urinary tract transitional cell epithelium characterized by papillary formations. -- 2003" "" + "urothelial neoplasm" "A neoplasm involving a urothelium." "" + "intrahepatic bile duct adenoma" "A rare adenoma that arises from the intrahepatic biliary tree." "" + "extrahepatic bile duct adenoma" "An adenoma that arises from the extrahepatic bile ducts. It is classified as papillary, tubular, or tubulopapillary." "" + "papillary hidradenoma" "A benign neoplasm arising from the sweat glands. It presents as a slow growing cystic nodular lesion most often in the skin of the vulva and the perianal region. It is characterized by the presence of cystic and large papillary structures. The papillary structures contain connective tissue and are covered by two layers of epithelium. Complete excision is curative." "" + "clear cell hidradenoma" "An uncommon benign neoplasm of the sweat glands characterized by the presence of clear cells." "" + "obsolete syringocystadenoma papilliferum" "" "true" + "eccrine papillary adenoma" "A benign neoplasm arising from the sweat glands. It is characterized by the presence of eccrine ducts in the dermis containing intraluminal papillary projections." "" + "obsolete laryngeal neuroendocrine tumor" "" "true" + "cochlear disease" "Pathological processes of the snail-like structure (cochlea) of the inner ear (labyrinth) which can involve its nervous tissue, blood vessels, or fluid (endolymph)." "" + "conjunctival intraepithelial neoplasm" "" + "squamous cell intraepithelial neoplasia" "" + "conjunctival tumor" "A benign or malignant neoplasm that affects the conjunctiva. Representative examples include papilloma, squamous cell carcinoma, and melanoma." "" + "bile duct papillary neoplasm" "A non-invasive, papillary epithelial neoplasm that arises from the epithelium of the intrahepatic or extrahepatic bile ducts." "" + "obsolete bile duct mucinous cystic neoplasm" "" "true" + "obsolete ovarian serous adenofibroma" "" "true" + "uterine corpus adenofibroma" "A usually polypoid, benign neoplasm that arises from the endometrial cavity. It is characterized by the presence of a mesenchymal core component and an epithelial component that forms a lining on the mesenchymal core." "" + "cervical adenofibroma" "A benign, polypoid neoplasm that arises from the cervix. It is characterized by the presence of epithelial and mesenchymal elements." "" + "clear cell adenofibroma" "A benign neoplasm characterized by the presence of glandular structures which contain clear cells and a fibrotic stroma." "" + "fallopian tube serous adenofibroma" "A rare, benign, asymptomatic neoplasm that arises from the fallopian tube. The majority of cases are incidental findings during operation for an unrelated gynecologic disorder. The tumors are round and solitary and contain connective tissue and papillary or tubular structures lined by serous-type epithelium." "" + "serous adenofibroma" "A benign adenofibroma characterized by the presence of serous secretory cells and minute cystic spaces filled with watery fluid. A representative example is the ovarian serous adenofibroma. Cases with epithelial atypia described in the ovary lacking stromal invasion are designated as borderline serous adenofibromas and have a low grade malignant potential." "" + "papillary adenofibroma" "A biphasic polypoid neoplasm characterized by the presence of papillary projections that are lined by epithelial cells and fibrotic stroma." "" + "ovarian endometrioid adenofibroma" "A benign neoplasm of the ovary characterized by the presence of glandular structures with endometrial-type well-differentiated cells in a fibrotic stroma." "" + "cystadenofibroma" "A benign or borderline neoplasm that arises from the ovaries and the fallopian tubes. It is characterized by the presence of cystic glandular structures and fibrous tissue." "" + "fibrous synovial sarcoma" "" + "synovial sarcoma" "Synovial sarcoma is an aggressive soft tissue sarcoma, occurring most commonly in adolescents and young adults (15 to 40 years), usually localized near the large joints of the extremities but also in the head and neck, mediastinum and viscera (lung, kidney etc), clinically presenting as a deep seated swelling or a painful mass often with an initial indolent course and is characterized by its local invasiveness and a propensity to metastasize. The origin of synovial sarcoma is likely from multipotent mesenchymal cells and not synovium (contrary to its name)." "" + "spindle cell synovial sarcoma" "A synovial sarcoma characterized by the presence of a spindle cell component only." "" + "monophasic synovial sarcoma" "A synovial sarcoma characterized by the presence of an epithelial or a spindle cell component only." "" + "mediastinum synovial sarcoma" "A synovial sarcoma arising from the mediastinum." "" + "biphasic synovial sarcoma" "A synovial sarcoma characterized by the presence of both an epithelial and a spindle cell component." "" + "epithelioid cell synovial sarcoma" "A synovial sarcoma characterized by the presence of an epithelial cell component only. The epithelial cells are arranged in glandular or papillary structures." "" + "cellular ependymoma" "An ependymoma which shows conspicuous cellularity without a significant increase in mitotic rate. (Adapted from WHO)" "" + "ependymoma" "A WHO grade II, slow growing tumor of children and young adults, usually located intraventricularly. It is the most common ependymal neoplasm. It often causes clinical symptoms by blocking cerebrospinal fluid pathways. Key histological features include perivascular pseudorosettes and ependymal rosettes. (WHO)" "" + "Pediculus humanus capitis infestation" "A infectious disease involving Pediculus humanus capitis." "" + "spinal cord ependymoma" "An ependymoma that arises from the spinal cord." "" + "malignant ependymoma" "A malignant form of ependymoma." "" + "ependymal tumor of spinal cord" "An ependymal tumor that arises from the spinal cord." "" + "tanycytic ependymoma" "A variant of ependymoma, often found in the spinal cord, with tumor cells arranged in fascicles of variable width and cell density. Ependymal rosettes are generally absent, so this lesion must be distinguished from astrocytic neoplasms, but its EM characteristics are ependymal. (Adapted from WHO.)" "" + "papillary ependymoma" "A rare variant of ependymoma characterized by well formed papillae. Tumor cell processes abutting capillaries are usually GFAP-positive. Differential diagnoses include choroid plexus papilloma, papillary meningioma and metastatic papillary carcinoma. (Adapted from WHO)" "" + "clear cell ependymoma" "An ependymoma, often supratentorial in location, characterized by the presence of ependymal cells with a perinuclear halo." "" + "brain stem ependymoma" "An ependymoma that arises from the brain stem." "" + "childhood ependymoma" "An ependymoma that arises from the central nervous system and occurs during childhood." "" + "toxic pneumonitis" "A pneumonia that is an acute inflammation of the lungs induced by inhalation of metal fumes or toxic gases and vapors. It is a sentinel health event (occupational) associated with exposure to ammonia (refrigeration, fertilizer, and oil refining industries), chlorine (alkali and bleach industries), nitrogen oxides (silo fillers, arc welders, and nitric acid industry), sulfur dioxide (paper, refrigeration, and oil refining industries), cadmium (processors and cadmium smelters), trimellitic anhydride (plastics and organic chemical synthesis), and vanadium pentoxide (boilermakers). The two types of pulmonary agents are central and peripheral. Central pulmonary agents, for example, ammonia, are water soluble irritants that injure the upper airways. Peripheral pulmonary agents, for example, phosgene, NOx, and PFIB, are slightly water soluble irritants that injure the alveolar-capillary membranes. Chlorine has both central and peripheral effects." "" + "pineal region dysgerminoma" "A dysgerminoma (disease) that involves the pineal body." "" + "dysgerminoma of ovary" "A malignant germ cell tumor arising from the ovary. Morphologically, it is identical to seminoma and consists of a monotonous population of germ cells with abundant pale cytoplasm and uniform nuclei. The stroma invariably contains chronic inflammatory cells, mostly T-lymphocytes. It responds to chemotherapy or radiotherapy and the prognosis relates to the tumor stage." "" + "Pediculus humanus corporis infestation" "A infectious disease involving the Pediculus humanus corporis." "" + "obsolete gastric squamous cell carcinoma" "" "true" + "obsolete penis squamous cell carcinoma" "" "true" + "obsolete colon squamous cell carcinoma" "" "true" + "basaloid squamous cell carcinoma" "A squamous cell carcinoma characterized by the presence of cells with hyperchromatic nuclei, scant amount of cytoplasm, and peripheral nuclear palisading." "" + "basaloid carcinoma" "A malignant epithelial neoplasm characterized by the presence of neoplastic cells with hyperchromatic nuclei, small amount of cytoplasm, and peripheral nuclear palisading." "" + "pseudoglandular squamous cell carcinoma" "A squamous cell carcinoma characterized by the formation of gland-like structures." "" + "obsolete anal squamous cell carcinoma" "" "true" + "obsolete middle ear squamous cell carcinoma" "" "true" + "ampulla of vater squamous cell carcinoma" "A carcinoma with squamous differentiation arising from the ampulla of Vater. Signs and symptoms include jaundice, abdominal pain, anorexia, nausea, vomiting, and weight loss." "" + "extrahepatic bile duct squamous cell carcinoma" "A carcinoma that arises from the extrahepatic bile ducts. It is composed entirely by malignant squamous epithelial cells." "" + "squamous cell carcinoma of the small intestine" "A carcinoma that arises from the small intestine. It is composed of malignant squamous cells." "" + "obsolete rectum squamous cell carcinoma" "" "true" + "lacrimal gland squamous cell carcinoma" "A squamous cell carcinoma that involves the lacrimal gland." "" + "thymus squamous cell carcinoma" "A rare primary thymic carcinoma, characterized by the presence of keratinizing or non-keratinizing malignant squamous cells. Approximately 10-20% of cases occur in combination with thymoma. The prognosis depends on the tumor stage and the degree of cellular differentiation." "" + "ovarian squamous cell carcinoma" "A usually high grade squamous cell carcinoma that arises from the ovary and is not associated with a germ cell tumor. The prognosis is poor." "" + "ovarian squamous cell neoplasm" "A squamous cell tumor that arises from the ovary and is not associated with a germ cell tumor." "" + "obsolete endometrial squamous cell carcinoma" "" "true" + "renal pelvis squamous cell carcinoma" "A squamous cell carcinoma that involves the renal pelvis." "" + "obsolete gallbladder squamous cell carcinoma" "" "true" + "sarcomatoid squamous cell skin carcinoma" "A squamous cell carcinoma of the skin with a prominent spindle cell component." "" + "keratinizing squamous cell carcinoma" "Squamous cell carcinomas with morphologically prominent production of keratin." "" + "squamous cell bile duct carcinoma" "A squamous cell carcinoma that involves the bile duct." "" + "squamous cell carcinoma of liver and intrahepatic biliary tract" "Squamous cell carcinoma of liver and intrahepatic biliary tract is an extremely rare, primary, malignant liver and biliray tract epithelial tumor originating in the intrahepatic bile duct epithelium histologically characterized by the presence of keratinization and/or intracellular bridges. Patients typically present abdominal pain in the right upper quadrant, jaundice, nausea, vomiting, anorexia, weight loss, fever and/or dyspepsia." "" + "ureter squamous cell carcinoma" "A rare squamous cell carcinoma that arises from the ureter." "" + "fallopian tube squamous cell carcinoma" "A rare squamous cell carcinoma that arises from the fallopian tube." "" + "anal canal neuroendocrine neoplasm" "A neoplasm with neuroendocrine differentiation that arises from the anal canal. It includes well differentiated neuroendocrine tumors (low and intermediate grade) and poorly differentiated neuroendocrine carcinomas (high grade)." "" + "femoral cancer" "A cancer involving a femur." "" + "neoplasm of femur" "A neoplasm (disease) that involves the femur." "" + "pulmonary artery choriocarcinoma" "A rare choriocarcinoma that arises from a pulmonary artery." "" + "choriocarcinoma" "An aggressive malignant tumor arising from trophoblastic cells. The vast majority of cases arise in the uterus and represent gestational choriocarcinomas that derive from placental trophoblastic cells. Approximately half of the cases develop from a complete hydatidiform mole. A minority of cases arise in the testis or the ovaries. There is often marked elevation of human chorionic gonadotropin (hCG) in the blood. Choriocarcinomas disseminate rapidly through the hematogenous route; the lungs are most frequently affected." "" + "choriocarcinoma of ovary" "A choriocarcinoma arising from the ovary. When it appears before puberty is of germ cell origin. In children and young adults signs and symptoms include precocious pseudopuberty and vaginal bleeding. Serum human chorionic gonadotropin is elevated. Germ cell derived ovarian choriocarcinoma should be differentiated from primary or metastatic gestational choriocarcinoma affecting the ovary. The prognosis of germ cell derived choriocarcinoma is less favorable and requires more aggressive chemotherapy treatment regimens compared to gestational choriocarcinoma." "" + "choriocarcinoma of testis" "A malignant germ cell tumor arising from the testis. It represents the rarest of the testicular germ cell tumors. Histologically it is characterized by the presence of syncytiotrophoblasts and cytotrophoblasts." "" + "pineal region choriocarcinoma" "A choriocarcinoma (disease) that involves the pineal body." "" + "choriocarcinoma of the central nervous system" "A malignant germ cell tumor of the central nervous system characterized by extra-embryonic differentiation along trophoblastic lines. The diagnosis requires the identification of cytotrophoblastic elements, as well as syncytiotrophoblastic giant cells. (WHO)" "" + "obsolete testicular germ cell cancer" "" "true" + "mediastinal mesenchymal tumor" "A benign or malignant soft tissue neoplasm of the mediastinum. Representative examples of benign mediastinal soft tissue neoplasms include chondroma, leiomyoma, lipoma, and rhabdomyoma. Representative examples of malignant mediastinal soft tissue neoplasms include angiosarcoma, leiomyosarcoma, liposarcoma, osteosarcoma, rhabdomyosarcoma, and synovial sarcoma." "" + "gastric teratoma" "A mature or immature teratoma that arises from the stomach." "" + "malignant teratoma" "A malignant form of teratoma." "" + "fallopian tube teratoma" "A teratoma that arises from the fallopian tube. It is a rare tumor, often found incidentally." "" + "adult teratoma" "A teratoma that occurs in an adult." "" + "mature teratoma" "A teratoma which may be cystic; it is composed entirely of well differentiated, adult-type tissues, without evidence of fetal-type tissues." "" + "mediastinum teratoma" "A teratoma that involves the mediastinum." "" + "extragonadal non-dysgerminomatous germ cell tumor" "" + "mediastinal germ cell tumor" "A germ cell tumor that arises from the mediastinum. Representative examples include seminoma, embryonal carcinoma, yolk sac tumor, teratoma, and mixed germ cell tumor." "" + "malignant syringoma" "A malignant form of syringoma." "" + "eccrine sweat gland cancer" "An cancer with eccrine differentiation arising from the sweat glands.B" "" + "obsolete malignant acrospiroma" "" "true" + "obsolete VIPoma" "" "true" + "male orgasm disorder" "Persistent delay or absence in orgasm not accounted for by a medical reason." "" + "orgasm disorder" "" + "gastrin-producing neuroendocrine tumor" "A gastrin-producing neuroendocrine tumor. It is usually located in the pancreas but it is also found at other anatomic sites, including the stomach and small intestine." "" + "gastric gastrin-producing neuroendocrine tumor" "A well differentiated neuroendocrine tumor that arises from the stomach. It produces gastrin and it may be associated with Zollinger-Ellison syndrome." "" + "gastric neuroendocrine tumor, well differentiated, low or intermediate grade" "A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the stomach." "" + "pancreatic gastrin-producing neuroendocrine tumor" "A usually malignant gastrin-producing neuroendocrine tumor arising from the pancreas. It may or may not be associated with inappropriate secretion of gastrin and an associated clinical syndrome." "" + "obsolete lung giant cell carcinoma" "" "true" + "obsolete Ferguson-Smith tumor" "A rare genetic neoplastic disorder with an autosomal dominant pattern of inheritance characterized by multiple, recurrent skin cancers that spontaneously resolve. It has been described almost exclusively in families of Scottish origin. It is caused by a mutation in the tumor-suppressing gene, TGFBR1, on chromosome 9. Clinical presentation is usually rapidly growing squamous cell carcinomas or keratoacanthomas that primarily localize to sun-exposed areas. Appearance of the neoplasms occurs over several weeks before receding over the course of several months if untreated. The regression of the lesions leaves pitting cicatrices but no other known sequelae." "" "true" + "Volkmann contracture" "An ischemic contracture of the forearm that most often occurs secondary to trauma." "" + "acute pyelonephritis" "Sudden onset pyelonephritis." "" + "aggressive digital papillary adenocarcinoma" "" + "digital papillary eccrine carcinoma" "An adenocarcinoma arising from the sweat glands. Most cases present as nodular lesions on the digits, usually in the hands. It is characterized by the presence of epithelial cells in the dermis forming nodules. Cystic structures containing papillary projections are also present. It may recur and metastasize, most commonly to the lungs." "" + "papillary eccrine carcinoma" "" + "eccrine carcinoma" "An adenocarcinoma with eccrine differentiation arising from the sweat glands. It includes the following subtypes: ductal eccrine adenocarcinoma, papillary eccrine carcinoma, and eccrine porocarcinoma." "" + "breast papillary carcinoma" "A breast carcinoma characterized by the formation of irregular, finger-like projections of fibrous stroma covered with neoplastic epithelial cells." "" + "breast ductal adenocarcinoma" "A breast carcinoma arising from the ducts. While ductal carcinomas can arise at other sites, this term is universally used to refer to carcinomas of the breast. Ductal carcinomas account for about two thirds of all breast cancers. Two types of ductal carcinomas have been described: ductal carcinoma in situ (DCIS) and invasive ductal carcinoma. The latter often spreads to the axillary lymph nodes and other anatomic sites. The two forms of ductal carcinoma often coexist." "" + "obsolete gastric papillary adenocarcinoma" "" "true" + "papillary thymic adenocarcinoma" "A rare primary thymic adenocarcinoma, characterized by a papillary growth pattern. There are only a few published cases, and no good data regarding prognosis." "" + "fallopian tube papillary adenocarcinoma" "An adenocarcinoma that arises from the fallopian tube and is characterized by a papillary architectural pattern." "" + "obsolete fallopian tube serous adenocarcinoma" "" "true" + "precursor T-lymphoblastic lymphoma/leukemia" "A neoplasm of lymphoblasts committed to the T-cell lineage, typically composed of small to medium-sized blast cells. When the neoplasm involves predominantly the bone marrow and the peripheral blood, it is called T acute lymphoblastic leukemia. When it involves nodal or extranodal sites it is called T lymphoblastic lymphoma. (WHO, 2001)" "" + "T-cell and NK-cell neoplasm" "" + "lymphoid neoplasm" "A neoplasm composed of a lymphocytic cell population which is usually malignant (clonal) by molecular genetic and/or immunophenotypic analysis. Lymphocytic neoplasms include Hodgkin and non-Hodgkin lymphomas, acute and chronic lymphocytic leukemias, and plasma cell neoplasms." "" + "T-cell adult acute lymphocytic leukemia" "An acute T-lymphoblastic leukemia occurring in adults." "" + "acute T cell leukemia" "" + "T-cell leukemia" "A malignant disease of the T-lymphocytes in the bone marrow, thymus, and/or blood." "" + "dental pulp calcification" "" + "intradural extramedullary spinal canal neoplasm" "A neoplasm that occurs within the spinal canal in the space between the spinal cord and the dura mater. Representative examples include meningioma, neurofibroma, and sarcoma. Signs and symptoms include local and radicular pain, weakness and spinal cord compression." "" + "obsolete histiocytic and dendritic cell cancer" "" "true" + "adenosquamous breast carcinoma" "An invasive breast carcinoma characterized by the presence of tubular and glandular neoplastic cell structures, admixed with islands of neoplastic cells showing squamous differentiation." "" + "adenosquamous carcinoma" "A carcinoma composed of malignant glandular cells and malignant squamous cells." "" + "squamous cell breast carcinoma" "A rare carcinoma that arises from the breast parenchyma and is entirely composed of squamous cells." "" + "adenosquamous bile duct carcinoma" "An adenosquamous carcinoma that arises from the bile ducts." "" + "liver adenosquamous carcinoma" "A rare carcinoma that arises from the intrahepatic bile ducts and is composed of malignant glandular cells and malignant squamous cells." "" + "esophageal adenosquamous carcinoma" "An esophageal carcinoma characterized by the presence of distinguishable squamous and glandular carcinomatous components." "" + "thymic adenosquamous carcinoma" "A rare carcinoma that arises from the thymus and is characterized by the presence of glandular and squamous carcinomatous components." "" + "obsolete adenosquamous gallbladder carcinoma" "" "true" + "ampulla of vater adenosquamous carcinoma" "A carcinoma with glandular and squamous differentiation arising from the ampulla of Vater. Signs and symptoms include jaundice, abdominal pain, anorexia, nausea, vomiting, and weight loss." "" + "extrahepatic bile duct adenosquamous carcinoma" "A carcinoma that arises from the extrahepatic bile ducts. It is characterized by the presence of glandular and squamous malignant epithelial components." "" + "adenosquamous colon carcinoma" "An unusual colon carcinoma characterized by the presence of glandular and squamous carcinomatous components. The two carcinomatous components may be admixed within the tumor, or the two may appear separately in different areas." "" + "colorectal adenosquamous carcinoma" "An unusual colorectal carcinoma characterized by the presence of glandular and squamous carcinomatous components. The two carcinomatous components may be admixed within the tumor, or the two may appear separately in different areas." "" + "squamous cell carcinoma of colon" "A squamous cell carcinoma that involves the colon." "" + "Bartholin gland adenosquamous carcinoma" "A carcinoma that arises from the Bartholin gland and is characterized by the presence of malignant glandular epithelial cells and malignant squamous epithelial cells." "" + "bartholin gland squamous cell carcinoma" "A carcinoma that arises from the Bartholin gland and is characterized by the presence of malignant squamous epithelial cells." "" + "endometrial adenosquamous carcinoma" "A rare endometrial carcinoma characterized by the presence of both malignant glandular and malignant squamous cellular components." "" + "endometrial squamous cell carcinoma" "A primary carcinoma of the endometrium characterized by the presence of malignant squamous cells." "" + "optic nerve sheath meningioma" "A meningioma that affects the sheath of the optic nerve." "" + "adenosquamous prostate carcinoma" "An infrequent invasive carcinoma of the prostate gland characterized by the presence of both glandular and squamous neoplastic components. It is more often located in the transitional zone of the prostate gland and it tends to rapidly metastasize to the bones." "" + "obsolete cervical adenosquamous carcinoma" "" "true" + "obsolete adenosquamous pancreas carcinoma" "" "true" + "malignant giant cell tumor of soft parts" "An undifferentiated pleomorphic sarcoma characterized by the presence of osteoclast-like giant cells and cellular pleomorphism." "" + "diffuse pulmonary fibrosis" "Diffuse replacement of the lung tissue by connective tissue." "" + "localized pulmonary fibrosis" "Replacement of the lung tissue by connective tissue in a specific area of the lung." "" + "urethral villous adenoma" "An epithelial neoplasm of the urethra, which is morphologically characterized by the presence of a villous architectural pattern." "" + "urethra neoplasm" "A neoplasm (disease) that involves the urethra." "" + "obsolete choroid plexus carcinoma" "" "true" + "bilateral hypoactive labyrinth" "" + "disorder of optic chiasm" "A disease that involves the optic chiasma." "" + "lipid-rich carcinoma" "A carcinoma characterized by the presence of malignant epithelial cells with clear cytoplasm which contains neutral lipids. A representative example is the lipid-rich breast carcinoma." "" + "obsolete labyrinthine dysfunction" "" "true" + "nasopharyngeal type undifferentiated carcinoma" "A nonkeratinizing carcinoma which occurs predominantly in the nasopharynx but also in the tonsils and rarely in other anatomic sites. It is characterized by the presence of large malignant cells with vesicular nuclei, prominent nucleoli, syncytial growth pattern, and a lymphoplasmacytic infiltrate." "" + "pleomorphic carcinoma" "A usually aggressive malignant epithelial neoplasm composed of cells with significant cytologic atypia and nuclear pleomorphism." "" + "comedocarcinoma" "A high grade carcinoma characterized by the presence of comedo-type of tumor cell necrosis in which the necrotic areas are surrounded by a solid proliferation of malignant pleomorphic cells." "" + "" "true" + "colorectal cancer" "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." "" + "obsolete cribriform carcinoma" "" "true" + "extragonadal nonseminomatous germ cell tumor" "A malignant non-seminomatous germ cell tumor that develops as a primary tumor in an anatomic site other than the testis or ovary." "" + "obsolete embryonal testis carcinoma" "" "true" + "ovarian embryonal carcinoma" "An embryonal carcinoma arising from the ovary. Signs and symptoms include the presence of an abdominal mass and abdominal pain." "" + "embryonal carcinoma" "A non-seminomatous malignant germ cell tumor characterized by the presence of large germ cells with abundant cytoplasm resembling epithelial cells, geographic necrosis, high mitotic activity, and pseudoglandular and pseudopapillary structures formation. It can arise from the testis, ovary, and extragonadal sites (central nervous system and mediastinum)." "" + "malignant non-dysgerminomatous germ cell tumor of ovary" "A malignant germ cell tumor other than dysgerminoma that arises from the ovary." "" + "hereditary breast ovarian cancer syndrome" "An autosomal dominant inherited syndrome caused by mutations in the BRCA1 or BRCA2 genes. Patients are at high risk of developing breast cancer, particularly before the age of fifty, high risk of developing a second primary breast cancer, and high risk of developing both breast and ovarian cancer." "" + "familial ovarian cancer" "An instance of ovarian cancer that is caused by an inherited modification of the individual's genome." "" + "hereditary breast carcinoma" "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." "" + "obsolete rare malignant breast tumor" "Any of the forms of breast cancer that have a rare incidence." "True" "true" + "obsolete atypical lipomatous tumor" "" "true" + "cerebral cortex disease" "A disease or disorder that involves the cerebral cortex." "" + "adult liposarcoma" "A malignant neoplasm arising from adipocytes, that occurs in adults. The tumor maybe one of several histologic types including well-differentiated, dedifferentiated, myxoid/round cell, and pleomorphic liposarcoma." "" + "esophagus liposarcoma" "A malignant adipose tissue neoplasm of the esophagus, characterized by multivacuolated lipoblasts with hyperchromatic nuclei, a solid pattern of growth, and a rich vascular network. It arises from the mucosal and submucosal layers of the lower esophagus. Clinical presentation includes progressive dysphagia, nausea, throat discomfort, and foreign body sensation." "" + "pediatric liposarcoma" "A rare malignant neoplasm arising from adipocytes, that occurs in children. The tumor maybe one of several histologic types including well-differentiated, dedifferentiated, myxoid/round cell, and pleomorphic liposarcoma." "" + "larynx liposarcoma" "A rare malignant adipose tissue neoplasm of the larynx. It predominantly affects males. Clinical presentation includes dysphonia, dysphagia and respiratory symptoms. The supraglottis is the most common site of involvement." "" + "liposarcoma of the ovary" "A malignant adipose tissue neoplasm of the ovary." "" + "fibroblastic liposarcoma" "A liposarcoma characterized by the presence of a fibroblastic component." "" + "kidney liposarcoma" "A rare malignant adipose tissue neoplasm of the fat cells surrounding the kidney, usually of the well-differentiated or myxoid type. It may be associated with tuberous sclerosis." "" + "gastric liposarcoma" "A malignant adipose tissue neoplasm of the stomach." "" + "breast liposarcoma" "A malignant adipose tissue neoplasm of the breast." "" + "mixed liposarcoma" "A malignant neoplasm characterized by the presence of a combination of liposarcomatous morphologic subtypes: myxoid/round cell and well differentiated/dedifferentiated liposarcoma or myxoid/round cell and pleomorphic liposarcoma." "" + "sclerosing liposarcoma" "A morphologic variant of well differentiated liposarcoma occurring most often in the retroperitoneum and paratesticular area. It is characterized by the presence of bizarre hyperchromatic stromal cells and rare multivacuolated lipoblasts within a fibrous stroma." "" + "well-differentiated liposarcoma" "A locally aggressive malignant neoplasm composed of mature adipocytes showing cell size variation and nuclear atypia. It is often associated with the presence of hyperchromatic multinucleated stromal cells, and varying numbers of lipoblasts. There are three histologic subtypes, sclerosing, inflammatory, and spindle cell liposarcoma. These tumors do not usually metastasize unless they undergo dedifferentiation." "" + "atypical lipomatous tumor" "An intermediate, locally aggressive lipomatous neoplasm. Microscopically, the adipose tissue contains large and pleomorphic lipoblasts, and is dissected by fibrous septa containing spindle cells. It requires a wide local excision, may recur locally, but never metastasizes." "" + "spindle cell liposarcoma" "A morphologic variant of well differentiated liposarcoma characterized by the presence of bland spindle cells and lipoblasts within a myxoid or fibrous stroma." "" + "" "true" + "myxoid liposarcoma" "A liposarcoma characterized by the presence of round non-lipogenic primitive mesenchymal cells and small signet ring lipoblasts within a myxoid stoma with a branching vascular pattern. This category includes hypercellular lesions with round cell morphology, formerly known as round cell liposarcoma." "" + "median nerve neuropathy" "Disease involving the median nerve, from its origin at the brachial plexus to its termination in the hand. Clinical features include weakness of wrist and finger flexion, forearm pronation, thenar abduction, and loss of sensation over the lateral palm, first three fingers, and radial half of the ring finger. Common sites of injury include the elbow, where the nerve passes through the two heads of the pronator teres muscle (pronator syndrome) and in the carpal tunnel (carpal tunnel syndrome)." "" + "vulvar liposarcoma" "A rare malignant adipose tissue neoplasm of the vulva." "" + "cutaneous liposarcoma" "A malignant adipose tissue neoplasm of the skin." "" + "mediastinum liposarcoma" "A malignant adipose tissue neoplasm of the anterior, middle or posterior mediastinum." "" + "intracranial liposarcoma" "A malignant adipose tissue neoplasm of the intracranial region." "" + "non-functioning pituitary gland neoplasm" "A hormone producing or non-producing pituitary gland adenoma or carcinoma, not associated with a hormonal syndrome." "" + "non-functioning endocrine neoplasm" "A hormone producing or non-producing endocrine neoplasm, not associated with a hormonal syndrome." "" + "functioning endocrine neoplasm" "A hormone producing endocrine neoplasm, associated with a hormonal syndrome." "" + "obsolete adrenal neuroblastoma" "A neuroblastoma arising from the adrenal gland." "" "true" + "adrenal medulla cancer" "A malignant neoplasm involving the adrenal medulla" "" + "adrenal medulla neoplasm" "A neoplasm (disease) that involves the adrenal medulla." "" + "seminal vesicle cystadenoma" "A rare benign cystadenoma that arises from the seminal vesicle." "" + "rete ovarii cystadenoma" "An exceptionally rare cystadenoma that arises from the rete ovarii." "" + "rete ovarii adenoma" "An adenoma that arises from the rete ovarii. It is composed of elongated tubules. The clinical course is benign." "" + "uterine ligament papillary cystadenoma associated with von Hippel-Lindau disease" "A benign mesonephric neoplasm that arises from the uterine ligament and occurs in women with von Hippel-Lindau disease. It is a cystic lesion characterized by the presence of multiple papillary excrescences." "" + "papillary cystadenoma" "A serous or mucinous benign or low malignant potential cystic epithelial neoplasm. It is characterized by the presence of glandular epithelial cells forming papillary structures." "" + "von Hippel-Lindau disease" "Von Hippel-Lindau disease (VHL) is a familial cancer predisposition syndrome associated with a variety of malignant and benign neoplasms, most frequently retinal, cerebellar, and spinal hemangioblastoma, renal cell carcinoma (RCC), and pheochromocytoma." "" + "uterine ligament neoplasm" "A benign, borderline, or malignant neoplasm that affects the uterine ligaments. Representative examples include Wolffian adnexal tumor, papillary cystadenoma, and adenocarcinoma." "" + "obsolete diffuse peritoneal leiomyomatosis" "" "true" + "intravenous leiomyomatosis" "A rare benign neoplasm characterized by the presence of smooth muscle cells growing within veins." "" + "nerve compression syndrome" "Any nerve disorder caused by the entrapment and compression of a nerve." "" + "salpingitis isthmica nodosa" "Formation of nodules in the isthmus of the fallopian tube due to fallopian tube diverticulosis. It may cause infertility or ectopic pregnancy." "" + "pyosalpinx" "The presence of pus in the fallopian tube. It is usually caused by acute salpingitis. The fallopian tube is distended and filled with pus. Histologic examination reveals edema and acute and chronic inflammation. Symptoms include fever, vaginal discharge, and pelvic pain." "" + "small intestinal vasoactive intestinal peptide producing tumor" "A neuroendocrine tumor that arises from the small intestine and produces vasoactive intestinal peptide." "" + "VIPoma" "VIPoma is an extremely rare type of pancreatic neuroendocrine tumor that secretes vasoactive intestinal polypeptide (VIP) leading to the manifestations of watery diarrhea, hypokalemia and achlorhydia or hypochhlorhydia (known as WDHA syndrome)." "" + "pancreatic vasoactive intestinal peptide producing tumor" "A usually malignant pancreatic neuroendocrine tumor producing vasoactive intestinal peptide (VIP). It may or may not be associated with inappropriate secretion of VIP and an associated clinical syndrome." "" + "obsolete pancreatic acinar cell adenocarcinoma" "" "true" + "acinic cell breast carcinoma" "A breast adenocarcinoma characterized by the presence of serous (acinic cell) differentiation." "" + "breast carcinoma" "A carcinoma that arises from epithelial cells of the breast" "" + "" "true" + "ovarian serous adenocarcinoma" "An adenocarcinoma that arises from the ovary and is characterized by the presence of malignant epithelial cells that, in well differentiated tumors, resemble the epithelium of the fallopian tube or, in poorly differentiated tumors, show anaplastic features and marked nuclear atypia." "" + "uterine ligament serous adenocarcinoma" "A rare serous adenocarcinoma that arises from the uterine ligament." "" + "cervical serous adenocarcinoma" "A rare adenocarcinoma that arises from the cervix. It is characterized by the presence of papillary patterns and cellular budding. Psammoma bodies are often seen." "" + "rheumatic pulmonary valve disease" "A rheumatologic disorder that involves the pulmonary valve." "" + "uterine corpus serous adenocarcinoma" "A serous adenocarcinoma that involves the uterine corpus." "" + "pancreatic serous cystadenocarcinoma" "A metastasizing, slow-growing malignant epithelial neoplasm that arises from the exocrine pancreas. It is characterized by the presence of cysts and is composed of glycogen-rich malignant epithelial cells which produce a watery fluid. Signs and symptoms include upper gastrointestinal bleeding, weight loss, jaundice, and abdominal pain." "" + "endocervicitis" "Inflammation of the endocervix." "" + "malignant mesenchymoma" "A term describing a malignant soft tissue tumor which consists of two or more mesenchymal lines of differentiation, excluding a fibroblastic line of differentiation." "" + "proteinuria" "The presence of abnormal amounts of protein in the urine." "" + "sebaceous breast carcinoma" "A very rare breast adenocarcinoma with sebaceous differentiation." "" + "sebaceous adenocarcinoma" "An adenocarcinoma with sebaceous differentiation. It presents as a painless mass and it may be multifocal. It grows in the ocular adnexae and in the skin of head and neck, trunk, genitals, and extremities. It is characterized by the presence of malignant cells with multivesicular and clear cytoplasm. It may recur and metastasize." "" + "vulvar sebaceous carcinoma" "A carcinoma that arises from the vulva. It is characterized by the presence of malignant basaloid glandular epithelial cells that resemble sebaceous epithelium and are arranged in cords and nests." "" + "clear cell-sugar-tumor of the lung" "A rare benign lung tumor with perivascular epithelioid cell differentiation. It is composed of round or oval cells with abundant clear or eosinophilic cytoplasm and distinct cell borders. The vast majority of patients are asymptomatic and the tumors are discovered incidentally. Excision is curative." "" + "benign PEComa" "A tumor with perivascular epithelioid cell differentiation characterized by the absence of pleomorphism and scarcity or absence of mitotic figures." "" + "lung PEComa" "A lung tumor that arises from perivascular epithelioid cells (PECs)." "" + "lung meningioma" "A primary or metastatic meningioma that is present in the lung. The lung is the most frequent site of metastasis of meningiomas." "" + "lung hilum neoplasm" "A benign or malignant neoplasm that arises from the hilar region of the lung." "" + "verruciform xanthoma of skin" "A rare, benign wart-like skin lesion of unknown etiology that is usually found in the genital or perianal area and consists of hyperkeratosis and aggregates of foam cell macrophages." "" + "hematopoietic and lymphoid cell neoplasm" "A neoplasm arising from hematopoietic cells found in the bone marrow, peripheral blood, lymph nodes and spleen (organs of the hematopoietic system). Hematopoietic cell neoplasms can also involve other anatomic sites (e.g. central nervous system, gastrointestinal tract), either by metastasis, direct tumor infiltration, or neoplastic transformation of extranodal lymphoid tissues. The commonest forms are the various types of leukemia, Hodgkin and non-Hodgkin lymphomas, myeloproliferative neoplasms, and myelodysplastic syndromes." "" + "obsolete oral submucous fibrosis" "" "true" + "giant hemangioma" "A cavernous hemangioma characterized by the presence of hylanized vascular channels and is often associated with the presence of calcifications, fibrosis, and hemorrhage." "" + "cavernous hemangioma of colon" "A cavernous hemangioma arising from the colon." "" + "cavernous hemangioma of face" "A cavernous hemangioma arising from the face." "" + "atrophic flaccid tympanic membrane" "" + "mixed hepatoblastoma" "A hepatoblastoma characterized by the presence of fetal and embryonal epithelial components and a mesenchymal component." "" + "hepatoblastoma" "Hepatoblastoma (HB) is a malignant hepatic tumor and is the most common pediatric liver cancer. It is characterized by anorexia, weight loss and an enlarged abdomen. HB is more common in patients with familial adenomatous polyposis (FAP), and can occur in patients with other pre-existing liver conditions. About 5% of HB cases are associated with genetic factors, especially overgrowth syndromes, such as Beckwith-Wiedemann syndrome (BWS) or hemihypertrophy." "" + "macrotrabecular hepatoblastoma" "A pure fetal or fetal and embryonal epithelial hepatoblastoma characterized by the presence of broad trabeculae." "" + "acute urate nephropathy" "Urolithiasis in which the composition of the stones is predominantly urate." "" + "nephrolithiasis" "The presence of a calculus in the pelvis of the kidney; this is most often composed of mineral salts and proteins." "" + "stork bite" "" + "capillary malformation" "" + "childhood parosteal osteosarcoma" "A low grade malignant bone-forming mesenchymal neoplasm arising from the surface of the bone. It occurs in childhood and usually affects the distal posterior femur, the proximal tibia, and proximal humerus. Painless swelling is the usual clinical sign. The prognosis is usually excellent." "" + "juxtacortical osteosarcoma" "A low grade malignant bone-forming mesenchymal neoplasm arising from the surface of the bone. It usually affects the distal posterior femur, the proximal tibia, and proximal humerus. Painless swelling is the usual clinical sign. Most patients are young adults and the prognosis is usually excellent." "" + "cerebral lymphoma" "A non-Hodgkin or Hodgkin lymphoma that arises in the cerebral hemispheres as a primary lesion." "" + "hemoglobinuria" "A laboratory test result which indicates free hemoglobin in the urine." "" + "obsolete methotrexate-associated lymphoproliferation" "" "true" + "B-cell lymphoma, unclassifiable, with features intermediate between diffuse large b-cell lymphoma and classical Hodgkin lymphoma" "A group of lymphomas displaying molecular, morphologic, immunophenotypic, and clinical overlap between classical Hodgkin lymphoma and diffuse large B-cell lymphoma. This term particularly applies to mediastinal lymphomas with overlapping features of mediastinal (thymic) large B-cell lymphoma and classical Hodgkin lymphoma." "" + "breast lymphoma" "A lymphoma that arises from the breast. There is no history of extramammary breast lymphoma and ipsilateral axillary lymph node involvement does not exclude the diagnosis of primary breast lymphoma. Most patients present with a painless breast lump. The vast majority of cases are B-cell non-Hodgkin lymphomas. Diffuse large B-cell lymphoma, follicular lymphoma, and extranodal marginal zone B-cell lymphoma of mucosa associated lymphoid tissue are the most common types of primary non-Hodgkin lymphoma of the breast. Primary Hodgkin lymphoma of the breast is rare." "" + "obsolete endometrioid ovary carcinoma" "" "true" + "uterine ligament endometrioid adenocarcinoma" "A rare endometrioid adenocarcinoma that arises from the uterine ligament. Some of the reported cases were associated with endometriosis." "" + "endometrioid adenocarcinoma" "An adenocarcinoma characterized by the presence of malignant glandular epithelial cells resembling endometrial cells. It can arise from the uterine body, ovary, fallopian tube, cervix, vagina, and uterine ligament." "" + "cervical endometrioid adenocarcinoma" "A cervical adenocarcinoma with the histologic characteristics of the endometrioid adenocarcinoma of the endometrium." "" + "normocytic anemia" "Anemia in which the red blood cell volume is normal." "" + "fallopian tube endometrioid adenocarcinoma" "An adenocarcinoma that arises from the fallopian tube and resembles the endometrioid adenocarcinoma of the uterus. It usually has a favorable prognosis." "" + "obsolete spermatocytoma" "" "true" + "extragonadal seminoma" "" + "testicular seminoma" "A malignant germ cell tumor arising from the testis. It is believed that it is derived from the sexually undifferentiated embryonic gonad. Treatment with radiotherapy is highly successful when the tumor is diagnosed in localized stages, which represents the majority of presentations of seminoma." "" + "posteroinferior myocardial infarction" "An electrocardiographic finding of an injury in leads corresponding to the anatomic region of the posteroinferior wall of the heart." "" + "myocardial infarction" "Gross necrosis of the myocardium, as a result of interruption of the blood supply to the area, as in coronary thrombosis." "" + "septal myocardial infarction" "A myocardial infarction (disease) that involves the cardiac septum." "" + "posterior myocardial infarction" "" + "apical myocardial infarction" "An electrocardiographic finding of an injury in leads corresponding to the anatomic region of the apex of the heart." "" + "posterolateral myocardial infarction" "An electrocardiographic finding of an injury in leads corresponding to the anatomic region of the posterolateral wall of the heart." "" + "inferolateral myocardial infarct" "An electrocardiographic finding of an injury in leads corresponding to the anatomic region of the inferolateral wall of the heart." "" + "lateral myocardial infarction" "" + "silent myocardial infarction" "A history of myocardial infarction in the absence of clinical symptoms and positive electrocardiographic findings." "" + "anteroseptal myocardial infarction" "" + "periosteal chondrosarcoma" "A chondrosarcoma arising from the surface of bone. It is characterized by a lobulated growth pattern, high mitotic activity, myxoid stroma formation, and necrotic changes. It occurs in adults. Clinical presentation includes pain, and sometimes swelling." "" + "myxoid chondrosarcoma" "A chondrosarcoma characterized by the presence of myxoid changes." "" + "localized chondrosarcoma" "A non-disseminated skeletal or extraskeletal chondrosarcoma." "" + "" "true" + "clear cell chondrosarcoma" "A rare, usually low grade chondrosarcoma characterized by the presence of tumor cells with clear cytoplasm. It usually arises in the epiphyseal ends of long bones." "" + "retroperitoneal germ cell neoplasm" "A germ cell tumor that involves the retroperitoneal space." "" + "endocardium cancer" "A malignant neoplasm involving the endocardium." "" + "neoplasm of endocardium" "A neoplasm (disease) that involves the endocardium." "" + "well differentiated papillary mesothelioma" "A localized or multifocal mesothelioma arising from the peritoneum and less often the pleura. Cases arising from the peritoneum predominantly occur in women. It is characterized by the formation of papillae, covered by a single layer of blunt mesothelial cells. Mitotic figures are not present. There is no evidence of severe cytologic atypia. It has a relatively favorable clinical outcome, compared to malignant mesothelioma." "" + "adult anaplastic ependymoma" "An anaplastic ependymoma occurring in adults." "" + "anaplastic ependymoma" "Anaplastic ependymoma is a rare, malignant type of ependymoma that most often arises in the supratentorial region of the brain of children and young adults and that manifests with variable symptoms including headaches, nausea, vision impairment, memory loss and difficulty walking." "" + "childhood malignant mesenchymoma" "A malignant mesenchymoma occurring in children." "" + "adult malignant mesenchymoma" "A malignant mesenchymoma occurring in adults." "" + "clear cell cystadenofibroma" "A benign neoplasm characterized by the presence of cystic glandular and fibrous tissues and clear cells." "" + "ovarian clear cell cystadenofibroma" "A benign neoplasm of glandular epithelium characterized by the presence of clear or hobnail cells within a dense fibrous stroma and cystic structures." "" + "ovarian clear cell adenofibroma" "An uncommon benign neoplasm of glandular epithelium characterized by the presence of clear or hobnail cells within a dense fibrous stroma." "" + "obsolete meningeal melanocytoma" "" "true" + "non-invasive verrucous carcinoma of the penis" "" + "penis verrucous carcinoma" "A slow growing, locally recurring, very well differentiated papillary squamous cell carcinoma that arises from the penis. It is characterized by the presence of acanthosis and hyperkeratosis. The neoplastic infiltrate extends into the underlying stroma with a pushing border. Koilocytotic atypia is not present." "" + "papillary carcinoma of the penis" "A squamous cell carcinoma that arises from the penis and is characterized by the presence of a papillary growth pattern." "" + "brachial plexus neoplasm" "A neoplasm (disease) that involves the brachial nerve plexus." "" + "thyroid gland diffuse sclerosing papillary carcinoma" "A morphologic variant of papillary carcinoma of the thyroid gland that more often affects young patients and commonly metastasizing to the lungs. It is characterized by a diffuse infiltration of the thyroid gland by malignant follicular cells, squamous metaplasia, stromal fibrosis, and lymphocytic infiltration." "" + "thyroid gland papillary carcinoma" "A differentiated adenocarcinoma arising from the follicular cells of the thyroid gland. Radiation exposure is a risk factor and it is the most common malignant thyroid lesion, comprising 75% to 80% of all thyroid cancers in iodine sufficient countries. Diagnostic procedures include thyroid ultrasound and fine needle biopsy. Microscopically, the diagnosis is based on the distinct characteristics of the malignant cells, which include enlargement, oval shape, elongation, and overlapping of the nuclei. The nuclei also display clearing or have a ground glass appearance." "" + "uterus intravascular leiomyomatosis" "A rare benign neoplasm characterized by the presence of smooth muscle cells growing within the veins of the uterine corpus. The intravascular neoplasm growth occurs outside the confines of an adjacent leiomyoma." "" + "uterine corpus diffuse leiomyomatosis" "An unusual condition characterized by the presence of numerous small benign smooth muscle neoplasms located throughout the body of the uterus." "" + "obsolete uterine corpus leiomyomatosis" "" "true" + "adult brainstem mixed glioma" "" + "adult brainstem astrocytoma" "" + "distal biliary tract carcinoma" "A carcinoma that arises from the common bile duct distal to the insertion of the cystic duct." "" + "extrahepatic bile duct small cell adenocarcinoma" "An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the extrahepatic bile ducts. It is characterized by the presence of malignant small cells." "" + "liver neuroendocrine carcinoma" "An extremely rare, aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the liver." "" + "agoraphobia" "An anxiety disorder characterized by an intense, irrational fear of venturing out into open places or situations in which help (or escape) might not be available should excessive anxiety or panic symptoms develop." "" + "ovarian mixed germ cell neoplasm" "An ovarian malignant germ cell tumor characterized by the presence of at least two different germ cell components. At least one of the germ cell components is primitive. The most common combination of germ cell elements is dysgerminoma and yolk sac tumor." "" + "obsolete malignant peripheral nerve sheath tumor" "" "true" + "angiokeratoma of mibelli" "" + "angiokeratoma circumscriptum" "" + "bladder urachal squamous cell carcinoma" "" + "bladder urachal carcinoma" "Urachal cancer is a type of bladder cancer, making up less than 1% of all bladder cancers. The urachus is a structure normally only present during development in the womb that connects the bellybutton and the bladder. This connection normally disappears before birth, but in some people remains. Urachalcancers are usually diagnosed in adults in their 50's and 60's and may develop at the dome or anterior wall of the bladder, along the midline of the body (including the belly button), and between the pubis symphasis and the bladder.Most urachal cancersare adenocarcinomas (cancers that develop from gland cells).Others may besarcomas (which develop from connective tissue -such as leiomyosarcoma, rhabdomyosarcoma, and malignant fibrous histiocytoma), small cell carcinomas, transitional cell cancer, and mixed neoplasias. Most individuals with urachal cancer have symptoms of with hematuria (blood in urine). Other symptoms may include abdominal pain, a palpable abdominal mass, mucinuria, and bacteriuria. Treatment usually involved surgery to remove the cancer." "" + "renal pelvis papillary urothelial carcinoma" "A papillary transitional cell carcinoma that arises from the renal pelvis." "" + "renal pelvis papillary tumor" "A papillary tumor originating in the renal pelvis." "" + "papillary transitional cell carcinoma" "A non-invasive or invasive transitional cell carcinoma characterized by a papillary growth pattern. It may occur in the bladder or the renal pelvis." "" + "renal pelvis neoplasm" "A neoplasm (disease) that involves the renal pelvis." "" + "kidney fibrosarcoma" "A usually aggressive malignant neoplasm arising from the kidney. It is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation in a herringbone growth pattern." "" + "kidney osteogenic sarcoma" "An osteosarcoma arising from the kidney." "" + "internal auditory canal meningioma" "A meningioma that affects the internal auditory canal." "" + "blunt duct adenosis of breast" "Breast adenosis characterized by the presence of ducts with distended lumen and columnar cell metaplasia." "" + "non-proliferative fibrocystic change of the breast" "Breast fibrocystic change characterized by the absence of epithelial cell hyperplasia." "" + "breast adenosis" "A non-neoplastic disorder characterized by epithelial and/or myoepithelial tissue growth in the breast lobules. It may be associated with apocrine changes or sclerosis." "" + "apocrine adenosis of breast" "Breast adenosis characterized by the presence of extensive apocrine metaplasia." "" + "animal phobia" "An overwhelming, irrational, and persistent fear of animals." "" + "breast fibrosarcoma" "A usually aggressive malignant neoplasm arising from the breast. It is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation in a herringbone growth pattern." "" + "aleukemic leukemia cutis" "Infiltration of the skin and subcutaneous tissue by leukemic cells without evidence of leukemia in the bone marrow and peripheral blood. It results in clinically identifiable skin lesions. It may be the first manifestation of acute leukemia, preceding the involvement of the bone marrow and peripheral blood by the leukemic process." "" + "adult central nervous system teratoma" "A mature or immature teratoma affecting the central nervous system and occurring in adults." "" + "adult central nervous system mature teratoma" "A central nervous system mature teratoma that occurs in an adult." "" + "central nervous system mature teratoma" "A teratoma composed exclusively of fully differentiated, 'adult-type' tissue elements that are sometimes arranged in a pattern resembling normal tissue relationships. Mitotic activity is low or absent. The more common ectodermal components present in a mature teratoma include skin, brain and choroid plexus. The more common mesodermal components include cartilage, bone, fat and muscle (both smooth and striated). And the most common endodermal components are cysts lined by epithelia of respiratory or enteric type and in some cases pancreatic or hepatic tissue. (Adapted from WHO)" "" + "adult central nervous system immature teratoma" "" + "central nervous system immature teratoma" "A variant of teratoma composed of incompletely differentiated components resembling fetal tissues. Even if the immature component is only a minor element of an otherwise differentiated teratoma, the tumor is still classified as immature. (Adapted from WHO)" "" + "cancerophobia" "An overwhelming, irrational, and persistent fear of being diagnosed with cancer." "" + "malignant testicular Leydig cell tumor" "A Leydig cell tumor characterized by a large size, cellular atypia, high mitotic activity, vascular invasion and necrotic changes. The prognosis is usually poor." "" + "selective IgE deficiency disease" "A rare dysgammaglobulinemia characterized by low or undetectable serum levels of immunoglobulin class E (IgE). It is an uncommon primary antibody deficiency. It is most likely an inherited immunodeficiency. It may be caused by decreased or inefficient class-switching from progenitor B cells without any corresponding decreases in the other isotypes. Most affected persons appear asymptomatic but may show a predisposition to autoimmune and respiratory diseases." "" + "AIDS phobia" "An overwhelming, irrational, and persistent fear of contracting Acquired Immune Deficiency Syndrome." "" + "juvenile type testicular granulosa cell tumor" "A rare sex cord-stromal tumor that arises from the testis. It is the most frequent congenital testicular neoplasm and is usually diagnosed during the perinatal period. It usually presents as an asymptomatic scrotal or abdominal mass. Morphologically it is characterized by the presence of cysts that are lined by cells resembling granulosa and theca cells." "" + "heart fibrosarcoma" "A usually aggressive malignant neoplasm arising from the heart. It is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation in a herringbone growth pattern." "" + "heart malignant hemangiopericytoma" "A malignant hemangiopericytoma arising in the heart." "" + "spindle cell intraocular melanoma" "A melanoma arising from the choroid, ciliary body, or the iris. It is characterized by the presence of spindle-shaped melanocytes." "" + "uveal melanoma" "A melanoma derived from melanocytes of the uveal tract. It is the most common primary intraocular tumor in the United States and Western Europe. Similar to melanoma of the skin, it is rare in Africa and Asia. Diagnostic procedures include ophthalmoscopic exam, fluorescein angiography and ultrasound. Treatment includes: surgical excision of the eye, iridocyclectomy and tumor resection. Recent treatments also include radiotherapy or photo coagulation. Classification of uveal melanomas recognizes four cell types within these tumors: epithelioid, intermediate, mixed cell, and spindle cell types. The spindle cell type uveal melanomas are further sub-classified as spindle cell type A and spindle cell type B." "" + "spindle cell melanoma" "A melanoma characterized by the presence of malignant spindle-shaped melanocytes." "" + "choroid spindle cell melanoma" "A spindle cell melanoma that involves the optic choroid." "" + "malignant choroid melanoma" "A uveal melanoma that arises from the choroid. It is the most common primary malignant intraocular tumor. It usually affects Caucasians of northern European descent. It usually remains asymptomatic for a long period. When signs and symptoms occur, they include blurred vision, visual field loss, floaters, and ocular pain. Tumor size is the most important factor that relates to prognosis." "" + "ciliary body spindle cell melanoma" "A spindle cell melanoma that involves the ciliary body." "" + "malignant ciliary body melanoma" "A rare uveal melanoma that arises from the ciliary body. Patients may present with blurred vision, visual field loss, floaters, and ocular pain. The prognosis is usually poor." "" + "iris spindle cell melanoma" "A spindle cell melanoma that involves the iris." "" + "telangiectatic glomangioma" "A glomus tumor characterized by huge vascular channel formations." "" + "flying phobia" "An overwhelming, irrational, and persistent fear of traveling in an aircraft." "" + "upper digestive tract disease" "A disease or disorder that involves the upper digestive tract." "" + "childhood germ cell tumor" "A germ cell tumor that occurs during childhood." "" + "frontal sinus Schneiderian papilloma" "A papilloma that arises from the ciliated respiratory mucosa that lines the frontal sinus. It is classified as inverted papilloma and oncocytic papilloma." "" + "paranasal sinus Schneiderian papilloma" "A papilloma that arises from the ciliated respiratory mucosa that lines the paranasal sinuses. It is classified as inverted papilloma and oncocytic papilloma." "" + "benign neoplasm of frontal sinus" "A benign neoplasm that involves the frontal sinus." "" + "nasal vestibule squamous papilloma" "A benign exophytic squamous cell neoplasm with papillary growth that arises from the nasal vestibule." "" + "benign neoplasm of nasal cavity" "A benign neoplasm that involves the nasal cavity." "" + "Brown-Sequard syndrome" "Brown-Sequard syndrome is a rare neurological condition that results from an injury or damage to one side of the spinal cord. This condition results in weakness or paralysis on one side of the body (hemiparaplegia) and a loss of sensation on the opposite side (hemianesthesia). Brown-Sequard syndrome most commonly occurs in the the thoracic spine (upper and middle back). There are several causes of Brown-Sequard syndrome, including: a spinal cord tumor, trauma (such as a puncture wound to the neck or back), infectious or inflammatory diseases (tuberculosis or multiple sclerosis), and disk herniation. Treatment for this condition varies depending on the underlying cause." "" + "paraplegia" "Complete paralysis of the lower half of the body including both legs, often caused by damage to the spinal cord." "" + "urinary tract non-invasive transitional cell neoplasm" "" + "ovarian mucinous neoplasm" "A benign, borderline, or malignant epithelial tumor of the ovary characterized by the presence of neoplastic epithelial cells that contain intracytoplasmic mucin and may resemble the epithelial cells of the endocervix or gastrointestinal tract." "" + "childhood testicular germ cell tumor" "A germ cell tumor that arises from the testis during childhood." "" + "childhood gonadal germ cell tumor" "A germ cell tumor that arises from the testis or ovary and occurs during childhood." "" + "childhood testicular neoplasm" "A neoplasm that arises from the testis during childhood." "" + "childhood ovarian yolk sac tumor" "A yolk sac tumor that arises from the ovary and occurs in children." "" + "pediatric ovarian germ cell tumor" "A germ cell tumor that arises from the ovary and occurs in children." "" + "ovarian yolk sac tumor" "A usually rapidly growing malignant germ cell tumor arising from the ovary. It usually occurs in children and adolescents. Signs and symptoms include abdominal pain and a large abdominal or pelvic mass. The serum alpha-fetoprotein is almost always elevated preoperatively. Morphologically, there is marked heterogeneity due to numerous patterns of differentiation coexisting in the same tumor. The most common pattern is reticular." "" + "leptomeningeal melanoma" "A melanoma that arises from leptomeningeal melanocytes." "" + "malignant leptomeningeal tumor" "A primary or metastatic malignant tumor involving the leptomeninges." "" + "acute stress disorder" "An anxiety disorder precipitated by an experience of intense fear or horror while exposed to a traumatic (especially life-threatening) event. The disorder is characterized by dissociative symptoms; vivid recollections of the traumatic event; avoidance of stimuli associated with the traumatic event; and a constant state of hyperarousal for no more than one month." "" + "pediatric leptomeningeal melanoma" "A melanoma that arises from leptomeningeal melanocytes and occurs in childhood." "" + "childhood malignant melanoma" "A melanoma that occurs during childhood." "" + "adult leptomeningeal melanoma" "A melanoma that arises from leptomeningeal melanocytes and occurs in adulthood." "" + "signet ring cell variant cervical mucinous adenocarcinoma" "A rare cervical mucinous adenocarcinoma characterized by the presence of signet ring cells." "" + "herpetic gastritis" "Gastritis resulting from herpes virus." "" + "Herpesviridae infectious disease" "Virus diseases caused by the herpesviridae." "" + "thoracic spinal canal and spinal cord meningioma" "A meningioma that arises from the meninges of the thoracic region of the spinal cord." "" + "jugular foramen meningioma" "A meningioma that affects the jugular foramen." "" + "intracerebral cystic meningioma" "A cystic meningioma that grows within the cerebral hemispheres." "" + "cerebral convexity meningioma" "A meningioma that affects the cerebral sulcus." "" + "lateral ventricle meningioma" "A meningioma that affects the lateral ventricle of the brain." "" + "renal pelvis inverted papilloma" "A neoplasm of the renal pelvis in which the epithelial cells grow downward into the underlying supportive tissue." "" + "renal pelvis urothelial papilloma" "A benign neoplasm of the renal pelvis that involves the transitional epithelium projecting above the surrounding epithelial surface and consisting of villous or arborescent outgrowths of fibrovascular stroma." "" + "inverted urothelial papilloma" "An endophytic lesion in the urinary tract which shares several morphologic features with urothelial papilloma. This lesion may recur after complete excision. Transitional cell carcinomas may arise within inverted urothelial papillomas." "" + "benign neoplasm of renal pelvis" "A benign neoplasm that involves the renal pelvis." "" + "immune deficiency disease" "" + "obsolete gliomatosis cerebri" "" "true" + "bronchitis" "An acute or chronic inflammatory process affecting the bronchi." "" + "tracheobronchitis" "Inflammation of the tracheobronchial tree." "" + "uterine corpus epithelioid leiomyosarcoma" "A morphologic variant of leiomyosarcoma arising from the uterine corpus. It is characterized by the presence of epithelioid round cells with eosinophilic to clear cytoplasm." "" + "leiomyosarcoma of the corpus uteri" "An aggressive malignant smooth muscle neoplasm, arising from the uterine corpus. It is characterized by a proliferation of neoplastic spindle cells." "" + "lymphopenia" "Reduction in the number of lymphocytes." "" + "nasal cavity carcinoma in situ" "A in situ carcinoma that involves the nasal cavity." "" + "childhood testicular choriocarcinoma" "A choriocarcinoma that arises from the testis during childhood." "" + "childhood testicular mixed germ cell cancer" "A malignant mixed germ cell neoplasm that arises from the testis during childhood." "" + "childhood embryonal testis carcinoma" "An embryonal carcinoma that arises from the testis during childhood." "" + "testicular embryonal carcinoma" "A malignant germ cell neoplasm arising from the testis. It is composed of primitive epithelial cells arranged in solid, papillary, and glandular configurations. Most patients present with a testicular mass, which may be associated with pain. More than half of the patients have metastatic disease at diagnosis. The form of treatment following radical orchiectomy is stage dependent." "" + "hereditary papillary renal cell carcinoma" "A familial carcinoma inherited in an autosomal dominant trait. It is characterized by the development of multiple, bilateral papillary renal cell carcinomas. The carcinomas range from microscopic lesions to clinically symptomatic tumors. It is associated with activating mutations of the MET oncogene." "" + "papillary renal cell carcinoma" "A rare subtype of renal cell carcinoma, arising from the renal tubular epithelium and showing a papillary growth pattern, which typically manifests with hematuria, flank pain, palpable abdominal mass or nonspecific symptoms, such as fatigue, weight loss or fever. Symptoms related to metastatic spread, such as bone pain or persistent cough, are frequently associated since early diagnosis is not common. It is typically multifocal, bilateral, and in most cases sporadic, although different hereditary syndromes, such as Hereditary leiomyoma renal cell carcinoma, Birt-Hogg-DubC) syndrome and Tuberous sclerosis, may predispose to the development of papillary renal cell carcinoma." "" + "prostatic urethra urothelial carcinoma" "An urothelial carcinoma that arises from the urothelial lining of the prostatic urethra." "" + "prostatic urethral cancer" "A male urethral cancer that involves the prostatic urethra." "" + "male urethral cancer" "A cancer involving a male urethra." "" + "ovarian endometrial cancer" "A benign, borderline, or malignant epithelial tumor of the ovary characterized by the presence of glands and/or cysts lined by neoplastic cells that resemble endometrial cells." "" + "obsolete uterine carcinosarcoma" "" "true" + "obsolete mediastinal neurilemmoma" "" "true" + "ovarian small cell carcinoma" "A carcinoma that arises from the ovary and is characterized by the presence of small malignant cells. It includes small cell carcinoma, hypercalcemic type and small cell carcinoma, pulmonary type." "" + "rectum Kaposi sarcoma" "A Kaposi sarcoma arising from the rectum." "" + "Kaposi's sarcoma" "A malignant neoplasm characterized by a vascular proliferation which usually contains blunt endothelial cells. Erythrocyte extravasation and hemosiderin deposition are frequently present. The most frequent site of involvement is the skin; however it may also occur internally. It generally develops in people with compromised immune systems including those with acquired immune deficiency syndrome (AIDS)." "" + "colorectal Kaposi sarcoma" "A Kaposi sarcoma that arises from the colon or rectum." "" + "obsolete inflammatory MFH" "" "true" + "obsolete epithelioid sarcoma" "" "true" + "conventional malignant hemangiopericytoma" "A malignant hemangiopericytoma characterized by the presence of necrotic changes and in some cases high mitotic activity." "" + "hemangiopericytoma, malignant" "An uncommon malignant neoplasm arising from pericytes. Distinction between benign and malignant hemangiopericytoma may be difficult or even impossible on morphologic grounds alone." "" + "corneal intraepithelial neoplasm" "A squamous cell intraepithelial neoplasia that involves the cornea." "" + "cornea neoplasm" "A neoplasm (disease) that involves the cornea." "" + "aortic valve disease" "A disease involving the aortic valve." "" + "cardiac ventricle disease" "A disease or disorder that involves the cardiac ventricle." "" + "malignant pericardial mesothelioma" "A rare neoplasm of mesothelial origin that arises from the pericardium." "" + "thyroid hyalinizing trabecular adenoma" "A rare, circumscribed or encapsulated tumor arising from the follicular cells of the thyroid gland. It is characterized by a trabecular growth pattern and hyalinized stroma formation. The vast majority of cases have a benign clinical course." "" + "follicular thyroid adenoma" "A benign, encapsulated tumor, arising from the follicular cells of the thyroid gland. It may be associated with thyroid hormone secretion but it does not have malignant characteristics." "" + "obsolete follicular thyroid adenoma" "" "true" + "mediastinal extraskeletal osteosarcoma" "An osteosarcoma arising from the mediastinum." "" + "malignant mediastinum hemangiopericytoma" "A malignant hemangiopericytoma arising in the mediastinum." "" + "bladder diffuse clear cell adenocarcinoma" "A rare morphologic variant of bladder adenocarcinoma characterized by the presence of malignant glandular epithelial cells and clear cells forming a diffuse pattern." "" + "ovarian seromucinous tumor" "A benign, borderline, or malignant mixed epithelial tumor of the ovary. It is characterized by the presence of more than one epithelial cell type, most often serous and endocervical-type mucinous." "" + "ovarian papillary tumor" "A benign, borderline, or malignant epithelial tumor that arises from the ovary and is characterized by the presence of papillary proliferations. Representative examples include surface papilloma, borderline serous surface papillary tumor, and serous surface papillary adenocarcinoma." "" + "obsolete gastric diffuse adenocarcinoma" "" "true" + "obsolete Cronkhite-Canada syndrome" "" "true" + "obsolete peritoneal serous papillary adenocarcinoma" "" "true" + "childhood mature teratoma of the ovary" "A mature teratoma that arises from the ovary and occurs in children." "" + "childhood teratoma of the ovary" "A mature or immature teratoma that arises from the ovary and occurs in children." "" + "ovarian biphasic or triphasic teratoma" "A germ cell tumor that arises from the ovary and is composed of tissues that originate from two or three of the following germ layers, endoderm, ectoderm, or mesoderm." "" + "non-invasive bladder papillary urothelial neoplasm" "A papillary neoplasm of the urinary bladder in which the transitional cells form papillae. The papillary structures exhibit minimal architectural distortion and minimal atypia. Mitoses are infrequent. Patients are at an increased risk of developing new papillary lesions. Occasionally, the new lesions are urothelial carcinomas." "" + "obsolete transient hypogammaglobulinemia of infancy" "" "true" + "hereditary kidney oncocytoma" "An inherited condition characterized by the development of kidney oncocytomas which are often bilateral and multifocal. This condition may be connected to Birt-Hogg-Dube syndrome." "" + "kidney oncocytoma" "A benign tumor of the kidney, characterized by the presence of large cells with abundant eosinophilic granular cytoplasm. The majority of these tumors are discovered incidentally, during work-up of other conditions." "" + "mediastinum seminoma" "An extragonadal malignant germ cell tumor that arises from the mediastinum. It is characterized by the presence of uniform cells with clear or eosinophilic cytoplasm, round nucleus with one or more nucleoli, and distinct cellular borders. It usually arises from the anterior mediastinum. It may present with respiratory distress, chest pain, or superior vena cava syndrome or it may be asymptomatic, with the tumor detected on routine chest x-ray. The prognosis of mediastinal pure seminomas is favorable compared to the mediastinal non-seminomatous malignant germ cell tumors." "" + "mediastinal malignant germ cell tumor" "An extragonadal malignant germ cell tumor that arises from the mediastinum. This category includes seminoma, embryonal carcinoma, yolk sac tumor, choriocarcinoma, mixed germ cell tumors, and immature malignant teratoma." "" + "transient hypogammaglobulinemia" "A broad classification for humoral immunodeficiencies. These disorders may be caused by inadequate activation of progenitor B cells, defective class-switching or the effects of medications. Despite the potential for increased susceptibility to infection, these disorders are self-limited with eventual normalization of serum antibody levels." "" + "syndromic agammaglobulinemia" "A agammaglobulinemia that is part of a larger syndrome." "" + "growth hormone-producing pituitary gland carcinoma" "A rare, hormonally functioning or non-functioning pituitary gland adenocarcinoma that produces growth hormone. It may be associated with acromegaly." "" + "growth hormone-producing pituitary gland neoplasm" "An adenoma or carcinoma of the anterior lobe of the pituitary gland that produces growth hormone." "" + "chromophil adenoma of the kidney" "A controversial term, used for renal papillary lesions which measure 1cm or less in diameter and contain small, regular nuclei." "" + "type 1 papillary adenoma of the kidney" "" + "type 2 papillary adenoma of the kidney" "" + "immunodeficiency due to a genetic complement cascade protein anomaly" "True" + "obsolete severe combined immunodeficiency" "" "true" + "gastric cardia carcinoma" "A carcinoma that arises from epithelial cells of the cardia of stomach." "" + "gastric carcinoma" "A carcinoma that arises from epithelial cells of the stomach." "" + "gastric cardia adenocarcinoma" "A carcinoma that arises from glandular epithelial cells of the cardia of stomach." "" + "malignant thyroid stimulating hormone producing neoplasm of pituitary gland" "A rare, hormonally functioning or non-functioning pituitary gland adenocarcinoma that produces thyrotropin." "" + "TSH producing pituitary tumor" "An adenoma or carcinoma of the anterior lobe of the pituitary gland that produces thyrotropin." "" + "obsolete malignant ACTH producing neoplasm of pituitary gland" "" "true" + "ovarian mucinous adenocarcinofibroma" "A malignant neoplasm of the ovary with an invasive epithelial component and a fibrotic stroma. The epithelial component is characterized by the presence of malignant epithelial cells with intracytoplasmic mucin. Cystic spaces are also present which contain mucoid material." "" + "mucinous ovarian cancer" "An invasive malignant neoplasm that arises from the ovary and is characterized by the presence of malignant epithelial cells that contain intracytoplasmic mucin and may resemble the epithelial cells of the endocervix or gastrointestinal tract. It includes mucinous adenocarcinoma and mucinous adenocarcinofibroma." "" + "epicardium lipoma" "A rare benign adipose tissue neoplasm of the epicardium of the heart." "" + "heart lipoma" "A rare benign adipose tissue neoplasm of the heart usually originating in the epicardial or pericardial fatty tissue." "" + "benign neoplasm of heart" "A benign neoplasm that involves the heart." "" + "childhood cerebellar astrocytic neoplasm" "Benign and malignant astrocytomas that arise from astrocytes in the cerebellum. More than 80% of childhood cerebellar astrocytomas are pilocytic astrocytomas which have a favorable prognosis. The remainder are composed of diffuse or fibrillary subtypes with malignant astrocytomas occurring only rarely in the cerebellum during childhood." "" + "cerebral hemisphere lipoma" "A rare benign adipose tissue neoplasm within the cerebral hemisphere often associated with partial or complete agenesis of the corpus callosum." "" + "benign neoplasm of cerebrum" "A benign neoplasm that involves the telencephalon." "" + "corpus callosum lipoma" "A rare benign adipose tissue neoplasm of the corpus callosum." "" + "viral esophagitis" "Viral infection of the esophagus. It often occurs in immunocompromised patients and it is caused by cytomegalovirus or herpes simplex virus. Symptoms include pain on swallowing, fever, and retrosternal burning." "" + "non-hereditary degenerative ataxia" "" + "ectopic thymus" "A condition in which the thymus gland is abnomally located; this can be secondary to failure of descent during fetal development, or failure of involution." "" + "clivus chordoma" "A slow-growing malignant bone tumor arising from the remnants of the notochord and occurring in the clivus. It is characterized by a lobulated growth pattern, myxoid stroma formation, and the presence of physaliphorous cells." "" + "clivus chondroid chordoma" "A slow-growing malignant bone tumor arising from the remnants of the notochord and occurring in the clivus. It is characterized by a lobulated growth pattern, myxoid stroma formation, the presence of physaliphorous cells and cartilage." "" + "chondroid chordoma" "A slow-growing malignant bone tumor arising from the remnants of the notochord and occurring in the base of the skull. The tumor is characterized by a lobulated growth pattern, myxoid stroma formation, and the presence of physaliphorous cells and cartilage." "" + "ovarian fetiform teratoma" "A rare type of teratoma that arises from the ovary and resembles a malformed fetus." "" + "ovarian solid teratoma" "A mature teratoma that arises from the ovary and presents as a large solid mass. It contains multiple cysts that vary in size. Small foci of hemorrhage are also present." "" + "obsolete tibial adamantinoma" "" "true" + "obsolete immature teratoma of ovary" "" "true" + "adult malignant hemangiopericytoma" "A malignant hemangiopericytoma occurring in the adult population." "" + "adult intracranial malignant hemangiopericytoma" "A solitary fibrous tumor/hemangiopericytoma, grade 3 that arises from the brain and occurs in the adult population." "" + "anterior optic tract meningioma" "A meningioma that affects the anterior visual pathway." "" + "optic tract meningioma" "A meningioma that affects the visual pathway." "" + "bilateral meningioma of optic nerve" "Meningiomas that affects both optic nerves." "" + "cerebellopontine angle meningioma" "A meningioma that affects the cerebellopontine angle." "" + "vulvar eccrine adenocarcinoma" "An eccrine adenocarcinoma that arises from the sweat glands in the vulva." "" + "melanotic psammomatous malignant peripheral nerve sheath tumor" "A malignant peripheral nerve sheath tumor characterized by the presence of malignant cells that contain melanin and formation of psammoma bodies." "" + "malignant melanocytic neoplasm of the peripheral nerve sheath" "A rare variant of malignant peripheral nerve sheath tumor. It is characterized by the presence of malignant cells that contain melanin." "" + "chronic lymphocytic leukemia/small lymphocytic lymphoma" "An indolent, mature B-cell neoplasm composed of small, round B-lymphocytes. When the bone marrow and peripheral blood are involved, the term chronic lymphocytic leukemia is used. The term small lymphocytic lymphoma is restricted to cases which do not show leukemic involvement of the bone marrow and peripheral blood." "" + "acral lentiginous melanoma" "A form of melanoma occurring most often on the plantar, palmar, subungual, and periungual skin. It presents as a pigmented macular lesion with irregular borders. Morphologically, it consists of atypical spindled and dendritic melanocytes. The epidermis is often hyperplastic and there is pagetoid infiltration of the epidermis by anaplastic cells." "" + "liver extraskeletal osteosarcoma" "An osteosarcoma arising from the liver." "" + "diffuse meningeal melanocytosis" "A diffuse or multifocal proliferation of uniform nevoid polygonal cells in the leptomeninges. Cells may spread into the Virchow-Robin spaces without frank invasion of the brain. Diffuse melanocytosis carries a poor prognosis even in the absence of histologic malignancy. (WHO)" "" + "anterior foramen magnum meningioma" "A meningioma that affects the anterior foramen magnum." "" + "childhood brain stem glioma" "An abnormal growth of the cells that comprise the tissues of the brainstem. While the tumor may be histologically benign, it can produce great morbidity due to its location. It presents most commonly in the first two decades of life." "" + "childhood brainstem astrocytoma" "An astrocytoma that arises from the brain stem and occurs during childhood." "" + "obsolete metanephric adenoma" "" "true" + "ovarian papillary cystadenoma" "A serous cystadenoma of the ovary characterized by the presence of small papillary projections in the inner surface of the cysts." "" + "ovarian surface papilloma" "A benign serous neoplasm characterized by the presence of papillary proliferations on the surface of the ovary." "" + "ovarian serous surface papillary adenocarcinoma" "A serous adenocarcinoma that arises from the ovary and is characterized by the presence of a papillary architectural pattern." "" + "childhood central nervous system mature teratoma" "A mature teratoma that arises from the central nervous system during childhood." "" + "eyelid carcinoma" "A carcinoma that arises from epithelial cells of the eyelid." "" + "obsolete cervical adenoid basal carcinoma" "" "true" + "choroid cancer" "A malignant neoplasm involving the optic choroid." "" + "ovarian endometrioid adenocarcinofibroma" "A malignant neoplasm of the ovary characterized by the presence of malignant glandular cells resembling endometrial cells in a fibrotic stroma." "" + "ceruminous carcinoma" "An infiltrating adenocarcinoma derived from ceruminous glands in the external auditory canal." "" + "vulvar apocrine adenocarcinoma" "An apocrine adenocarcinoma that arises from the sweat glands in the vulva." "" + "central nervous system fibrosarcoma" "A usually aggressive malignant neoplasm arising from the central nervous system. It is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation in a herringbone growth pattern." "" + "obsolete cerebellar liponeurocytoma" "" "true" + "lipoma of the rectum" "A benign adipose tissue neoplasm of the rectum." "" + "benign neoplasm of rectum" "A benign neoplasm that involves the rectum." "" + "mucinous cystadenofibroma" "A benign neoplasm characterized by the presence of cystic structures lined by mucinous columnar epithelial cells in a fibrotic stroma." "" + "ovarian mucinous adenofibroma" "A benign neoplasm of the ovary characterized by the presence of glands with mucinous columnar epithelial cells in a fibrotic stroma." "" + "childhood testicular mixed embryonal carcinoma and teratoma" "A malignant testicular mixed germ cell neoplasm that occurs during childhood. It is characterized by the presence of embryonal carcinoma and teratoma components." "" + "infiltrating bladder urothelial carcinoma, clear cell variant" "An invasive transitional cell carcinoma of the bladder characterized by the presence of clear cells." "" + "infiltrating bladder urothelial carcinoma" "An invasive transitional cell carcinoma that arises from the urinary bladder urothelium." "" + "bladder transitional cell carcinoma" "The most common morphologic subtype of urinary bladder carcinoma (over 90% of cases). It arises from the transitional epithelium. It most often affects males in their sixth and seventh decades of life. Hematuria is the most common symptom at presentation. Pathologic stage is the strongest predictor of survival." "" + "bladder signet ring cell adenocarcinoma" "A signet ring cell carcinoma that involves the urinary bladder." "" + "acinar lung adenocarcinoma" "A morphologic variant of lung adenocarcinoma characterized by the presence of acinar structures composed of columnar or cuboidal cells. (NCI05)" "" + "rete testis adenoma" "A benign epithelial neoplasm arising from the rete testis." "" + "mediastinal melanocytic neurilemmoma" "A melanotic schwannoma that affects the mediastinum." "" + "periosteal osteogenic sarcoma" "An intermediate grade malignant bone-forming mesenchymal neoplasm with chondroblastic differentiation. It arises from the surface of the bone and affects the diaphysis or diaphyseal- metaphyseal portion of the long bones. A painless mass or swelling is the most common clinical sign. It is associated with a better prognosis than conventional osteosarcoma." "" + "breast capillary hemangioma" "A capillary hemangioma arising from the breast." "" + "breast epithelioid hemangioma" "A hemangioma characterized by the presence of epithelioid endothelial cells, arising from the breast." "" + "pediatric myxoid chondrosarcoma" "A myxoid chondrosarcoma occurring in children." "" + "adult myxoid chondrosarcoma" "A myxoid chondrosarcoma occurring in adults." "" + "cerebellar hemangioblastoma" "A histologically benign tumor, usually cystic with a vascular mural nodule, that is most often found in the cerebellum though it has been reported at other sites within the neuraxis. It is associated with von Hippel-Lindau disease (VHL gene located on chr 3p25-26)." "" + "brain stem hemangioblastoma" "A hemangioblastoma that involves the brainstem." "" + "benign neoplasm of brain stem" "A benign neoplasm that involves the brainstem." "" + "benign vaginal mixed tumor" "A non-metastasizing, well circumscribed neoplasm that arises from the vagina and is characterized by the presence of a predominant benign mesenchymal component and benign glandular or squamous epithelial cells." "" + "lung occult squamous cell carcinoma" "A squamous cell lung carcinoma detectable by sputum cytology only. The primary tumor is undetectable radiographically or during bronchoscopy; therefore, it can not be assessed." "" + "squamous cell lung carcinoma" "A carcinoma arising from squamous bronchial epithelial cells. It may be keratinizing or non-keratinizing. Keratinizing squamous cell carcinoma is characterized by the presence of keratinization, pearl formation, and/or intercellular bridges. Non-keratinizing squamous cell carcinoma is characterized by the absence of keratinization, pearl formation, and intercellular bridges. Cigarette smoking and arsenic exposure are strongly associated with squamous cell lung carcinoma." "" + "ovarian yolk sac tumor, glandular pattern" "A yolk sac tumor that arises from the ovary and is characterized by the presence of extensive differentiation into endodermal type glandular structures." "" + "ovarian yolk sac tumor, hepatoid pattern" "A yolk sac tumor that arises from the ovary and is characterized by the presence of extensive differentiation into hepatic tissue." "" + "ovarian yolk sac tumor, polyvesicular vitelline pattern" "A yolk sac tumor that arises from the ovary and is characterized by the presence of multiple dilated spaces lined by cells that resemble mesothelial cells. The dilated spaces coexist with columnar epithelial tissues." "" + "clivus meningioma" "A meningioma that affects the clivus." "" + "Bartholin gland adenomyoma" "A rare, benign neoplasm that arises from the Bartholin gland and is characterized by the presence of a fibromuscular stroma and glands lined by mucin-secreting epithelial cells, arranged in a lobular architecture." "" + "mixed cell uveal melanoma" "A melanoma arising from the choroid, ciliary body, or the iris. It is characterized by the presence of a mixture of spindle A melanoma cells, spindle B melanoma cells, and epithelioid melanoma cells." "" + "ciliary body mixed cell melanoma" "A mixed cell uveal melanoma that involves the ciliary body." "" + "iris melanoma" "A uveal melanoma that arises from the iris. It is the most common primary malignant neoplasm of the iris. The majority arise in preexisting nevi." "" + "choroid mixed cell melanoma" "A mixed cell uveal melanoma that involves the optic choroid." "" + "obsolete inborn purine-pyrimidine metabolic disorder" "" "true" + "cortical thymoma" "A thymic epithelial neoplasm characterized by the presence of neoplastic large, polygonal epithelial cells with large vesicular nuclei and prominent nucleoli. The neoplastic cells are arranged around perivascular spaces and along septa. Immature T-lymphocytes are also present. It may be associated with myasthenia gravis, pure red cell aplasia, and hypogammaglobulinemia. It is a tumor of moderate malignancy. The majority of cases occur in the anterior mediastinum as Masaoka stage I, stage II, or stage III tumors. Metastatic, stage IV tumors occur less frequently." "" + "thymoma type B" "An epithelial neoplasm arising from the thymus. It may be associated with myasthenia gravis, pure red cell aplasia, and hypogammaglobulinemia. It includes thymoma type B1 which is a thymoma of low grade malignant potential, thymoma type B2 which is a thymoma of moderate malignancy, and thymoma type B3 which is also known as well differentiated thymic carcinoma." "" + "heart lymphoma" "An extranodal lymphoma that arises from the heart and/or the pericardium. The majority of the cases are diffuse large B-cell lymphomas. Patients may present with chest pain, heart failure, pericardial effusion, arrhythmia, or syncope." "" + "angiomatous meningioma" "A WHO grade I meningioma characterized by the presence of small and medium sized vessels that predominate over the meningioma cells." "" + "obsolete inherited metabolic disorder" "" "true" + "obsolete gastric small cell carcinoma" "" "true" + "posterior foramen magnum meningioma" "A meningioma that affects the posterior foramen magnum." "" + "ovarian clear cell malignant adenofibroma" "A carcinoma arising from the ovary. It is characterized by the presence of malignant epithelial cells with clear cytoplasm in a fibrotic stroma." "" + "ethmoid sinus Schneiderian papilloma" "A papilloma that arises from the ciliated respiratory mucosa that lines the ethmoid sinus. It is classified as inverted papilloma and oncocytic papilloma." "" + "benign neoplasm of ethmoidal sinus" "A benign neoplasm that involves the ethmoid sinus." "" + "benign neoplasm of adrenal gland" "A benign neoplasm that involves the adrenal gland." "" + "adrenal cortex neoplasm" "A benign or malignant (primary or metastatic) neoplasm affecting the adrenal cortex. (NCI05)" "" + "ethmoid sinus inverted papilloma" "A benign neoplasm that arises from the ciliated respiratory mucosa that lines the ethmoid sinus. It results from the invagination and proliferation of epithelial cells in the underlying stroma." "" + "neurilemmoma of the pleura" "A schwannoma that involves the pleura." "" + "posterior uveal melanoma" "" + "uterine corpus myxoid leiomyosarcoma" "A morphologic variant of leiomyosarcoma arising from the uterus corpus. It is characterized by the presence of cellular pleomorphism, malignant cells with large nuclei, and a myxoid stroma." "" + "vestibular micropapillomatosis" "A benign neoplastic process characterized by the presence of multiple vestibular papillomas in the vulva." "" + "non-invasive bladder urothelial carcinoma" "Stage 0 includes: 0a (Ta, N0, M0); 0is (Tis, N0, M0). Ta: Noninvasive papillary carcinoma. Tis: Carcinoma in situ: \"flat tumor\". N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)" "" + "childhood optic tract astrocytoma" "An astrocytoma that arises from the visual pathway and occurs during childhood." "" + "childhood cerebral astrocytoma" "An astrocytoma, without designation of benign or malignant, that is found in the supratentorial region. The infratentorial location is more common in children." "" + "childhood optic nerve glioma" "A glioma affecting the optic tract and occurring in childhood." "" + "chest wall bone cancer" "An uncommon malignant neoplasm that arises from the chest wall bones. Representative examples include chondrosarcoma, osteosarcoma, and Ewing sarcoma/peripheral primitive neuroectodermal tumor." "" + "malignant neoplasm of chest wall" "A cancer that involves the chest wall." "" + "breast apocrine carcinoma" "An adenocarcinoma of the breast characterized by the presence of two intermingled cellular components: cells with abundant granular, eosinophilic cytoplasm, and cells with abundant cytoplasm containing fine empty vacuoles." "" + "oncocytic breast carcinoma" "A rare breast adenocarcinoma characterized by the presence of neoplastic oncocytic cells. The oncocytic cells comprise more than 70 percent of the malignant cellular population." "" + "invasive tubular breast carcinoma" "An invasive adenocarcinoma of the breast with a favorable prognosis. It is composed of tubular structures lined by a single layer of epithelium." "" + "tubular adenocarcinoma" "An infiltrating adenocarcinoma in which the malignant cells form tubular structures. Representative examples include the tubular breast carcinoma and the gastric tubular adenocarcinoma." "" + "vertebral disease" "A disease or disorder that involves the vertebra." "" + "bladder colonic type adenocarcinoma" "" + "Kummell disease" "Kummell disease, or avascular necrosis of a vertebral body, presents as vertebral osteonecrosis typically affecting a thoracic vertebra with compression deformity, intravertebral vacuum cleft, and exaggerated kyphosis weeks to months after a minor traumatic injury." "" + "osteonecrosis" "A none disease characterized by death of bone tissue due to a lack of blood supply." "" + "classic variant of chromophobe renal cell carcinoma" "" + "chromophobe renal cell carcinoma" "Chromophobe renal cell carcinoma is a rare subtype of renal cell carcinoma, originating from the intercalating cells of the collecting ducts and macroscopically manifesting as a well-circumscribed, highly lobulated, solid tumor that is usually diagnosed at an early stage. It is frequently asymptomatic, or may present with nonspecific symptoms, such as weight loss, fever or fatigue. The classic presentation observed in renal tumors (hematuria, flank pain and palpable mass) is occasionally observed and usually indicates an advanced stage of the disease. It is most frequently sporadic however, several familial cases, associated with Birt-Hogg DubC) syndrome, have been described." "" + "eosinophilic variant of chromophobe renal cell carcinoma" "" + "central nervous system hibernoma" "A rare benign slow growing adipose tumor, characterized by the presence of polygonal brown fat cells with abundant cytoplasm, that arises within the nervous system." "" + "hibernoma" "A rare benign slow growing adipose tissue tumor, characterized by the presence of polygonal brown fat cells with multivacuolated and/or granular cytoplasm. The tumor is usually painless and is most often seen in young adults." "" + "endobronchial leiomyoma" "A benign smooth muscle neoplasm arising endobronchially. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern." "" + "bone epithelioid hemangioma" "A locally aggressive hemangioma that arises from the bone. It is characterized by the presence of epithelioid endothelial cells." "" + "vaginal villous adenoma" "An adenoma that arises from the vagina and is characterized by a villous architectural pattern." "" + "hyper-IgM syndrome" "A primary immune deficiency disorder characterized by defective CD40 signaling; via B cells affecting class switch recombination (CSR) and somatic hypermutation." "" + "cerebral hemangioma" "A hemangioma arising from the cerebral hemisphere." "" + "obsolete cervical adenoma malignum" "" "true" + "nipple carcinoma" "A carcinoma that arises from epithelial cells of the nipple" "" + "scrotal hemangioma" "A hemangioma arising from the skin of the scrotum." "" + "benign neoplasm of scrotum" "A benign neoplasm that involves the scrotum." "" + "adult central nervous system choriocarcinoma" "A choriocarcinoma of the central nervous system that occurs in an adult." "" + "pediatric CNS choriocarcinoma" "A choriocarcinoma that arises from the central nervous system and occurs during childhood." "" + "juvenile breast papillomatosis" "A benign, usually solitary, well circumscribed multicystic neoplasm that arises from the breast and typically affects young females. The cysts are lined by papillary proliferations that contain epithelial and myoepithelial layers. In a minority of cases, atypia may be present." "" + "Baastrup syndrome" "" + "adult pineoblastoma" "A pineoblastoma occurring in adults." "" + "pineoblastoma" "Pineoblastoma is a rare, malignant type of supratentorial primitive neuroectodermal tumor (sPNET), found mainly in children (less than 10% of cases are reported in adults), and located in the pineal region of the brain but that can metastasize along the neuroaxis. As it is the most aggressive of the pineal parenchymal tumors, it is usually associated with a poor prognosis." "" + "childhood central nervous system immature teratoma" "An immature teratoma that arises from the central nervous system and occurs during childhood." "" + "breast large cell neuroendocrine carcinoma" "A poorly differentiated neuroendocrine carcinoma that arises from the breast. It is characterized by the presence of large neuroendocrine cells and high mitotic activity." "" + "pulmonary large cell neuroendocrine carcinoma" "A large cell neuroendocrine carcinoma that involves the lung(s)." "" + "lung neuroendocrine neoplasm" "A low, intermediate, or high grade malignant neoplasm with neuroendocrine differentiation that arises from the lung. This category includes typical carcinoid tumor, atypical carcinoid tumor, small cell carcinoma, large cell neuroendocrine carcinoma, and combined carcinoma." "" + "obsolete cervical large cell neuroendocrine carcinoma" "" "true" + "Froelich syndrome" "Froelich syndrome is characterized by obesity and hypogonadism due to a hypothalamic-pituitary disorder. The hypothalamus is a part of the brain where certain functions such as sleep cycles and body temperature are regulated. The pituitary is a gland that makes hormones that affect growth and the functions of other glands in the body. Froehlich syndrome is acquired(i.e., not thought to be inherited or genetic). This syndrome appears to affect males more commonly. The term 'Froelich syndrome' is rarely used today." "" + "diffuse infiltrative lymphocytosis syndrome" "This is usually an oligoclonal CD8+ lymphocytic infiltration of various organs." "" + "myositis ossificans" "A disorder characterized by non-neoplastic bone formation in soft tissues. It usually follows blunt trauma and bleeding in the deep soft tissues." "" + "Capgras syndrome" "A rare neuropsychiatric disorder whose primary feature is the delusion that relatives or close acquaintances are not the persons that they are known to be. Visual recognition appears intact but familiar persons are thought be imposters, that is, they appear similar or identical to known individuals but are not. Most cases are seen in the context of a psychotic state. However, if manifested post-traumatically, the cause is most likely due to neurologic impairment. This disorder should be contrasted with prosopagnosia, in which an individual may not recognize a familiar person at all." "" + "delusional disorder" "A disorder characterized by the presence of one or more nonbizarre delusions that persist for at least 1 month; the delusion(s) are not due to schizophrenia or a mood disorder, and do not impair psychosocial functioning apart from the ramifications of the delusion(s)." "" + "testicular monophasic choriocarcinoma" "A choriocarcinoma that arises from the testis and is characterized by the predominance of cytotrophoblastic and intermediate trophoblastic cells. Syncytiotrophoblastic cells are absent or not prominent." "" + "synchronous multifocal osteogenic sarcoma" "A bone osteosarcoma affecting multiple skeletal sites, with multifocal lesions discovered within 6 months of the appearance of the initial tumor. It has a poor prognosis." "" + "asynchronous multifocal osteogenic sarcoma" "A bone osteosarcoma affecting multiple skeletal sites, with multifocal lesions discovered between 6 and 24 months after the appearance of the initial tumor. Patients with asynchronous tumors have a better prognosis than those with synchronous osteosarcomas." "" + "amphetamine abuse" "Disorders related or resulting from use of amphetamines." "" + "gastric fundus carcinoma" "A carcinoma that arises from epithelial cells of the fundus of stomach." "" + "gastric pylorus carcinoma" "A carcinoma that arises from the pylorus." "" + "gastric body carcinoma" "A carcinoma that arises from epithelial cells of the body of stomach." "" + "tubular variant testicular seminoma" "A morphologic variant of testicular seminoma characterized by the presence of seminoma cells arranged in tubular patterns and few lymphocytes." "" + "obsolete malignant triton tumor" "" "true" + "Littre gland carcinoma" "A carcinoma involving a male urethral gland." "" + "malignant type AB thymoma" "A type AB thymoma which is characterized by an aggressive clinical course (capsular invasion, infiltration of the surrounding tissues) and can metastasize." "" + "thymoma type AB" "A thymic epithelial neoplasm characterized by the presence of a lymphocyte-poor component similar to that seen in type A thymoma and a lymphocyte-rich component which contains neoplastic small polygonal epithelial cells. It may be associated with myasthenia gravis and pure red cell aplasia. The majority of cases occur in the anterior mediastinum as Masaoka stage I tumors. A minority of the cases occur as stage II or stage III tumors. The overall survival is reported to be 80-100% at 5 and 10 years." "" + "obsolete fibrillary astrocytoma" "" "true" + "colon small cell neuroendocrine carcinoma" "An aggressive, high-grade, and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the colon. It is characterized by the presence of malignant small cells." "" + "intrahepatic bile duct cystadenoma" "A mucinous cystic neoplasm that arises from the intrahepatic bile ducts." "" + "schwannoma of jugular foramen" "A rare intracranial schwannoma that affects the jugular foramen." "" + "obsolete cervix small cell carcinoma" "" "true" + "bilateral breast carcinoma" "Carcinoma that affects both breasts in a simultaneous or non-simultaneous manner." "" + "synchronous bilateral breast carcinoma" "Carcinoma that is detected in one breast within two months from the diagnosis of carcinoma in the other breast." "" + "internal auditory canal lipoma" "A rare benign adipose tissue neoplasm of the internal auditory canal, often presenting as an acoustic tumor. It may be intermixed with the vestibulocochlear nerve and may adhere to adjacent structures." "" + "" "true" + "lung lymphoma" "A rare non-Hodgkin or Hodgkin lymphoma that arises in and is confined to the lung at the time of diagnosis." "" + "sternum lymphoma" "A rare lymphoma that arises from the bone or soft tissue of the sternum." "" + "polyembryoma of the ovary" "A rare, malignant germ cell tumor arising from the ovary. It is characterized by the presence of embryoid bodies which resemble early embryos." "" + "polyembryoma" "Polyembryoma is a type oftumor that develops from the cells of the gonads (testes in men or ovaries in women). Such tumors are called germ cell tumors. Polyembryomas have a distinctivelook because they are composed of many parts that are shaped like embryos, one of the earliest stages of a developing human during pregnancy. Symptoms of a polyembryoma may include an unusual bump or mass in the abdomen which can cause pain in some individuals; puberty at an unusually young age (known as precocious puberty); or irregularities in a female's menstruation. Treatment begins with surgery and may be followed by chemotherapy and/or radiation therapy. The cause of polyembryoma is not yet known." "" + "malignant breast myoepithelioma" "An invasive malignant tumor that arises from the breast. It is characterized by the presence of spindle-shaped myoepithelial cells. Mitoses are present. Rarely, local recurrences and distant metastases have been reported." "" + "villoglandular endometrial endometrioid adenocarcinoma" "A primary endometrioid adenocarcinoma of the endometrium characterized by the presence of numerous finger-like villi lined by neoplastic columnar cells." "" + "endometrial endometrioid adenocarcinoma" "A primary endometrial adenocarcinoma composed of neoplastic cells that form complex glandular patterns associated with budding and branching of the neoplastic glands. The neoplastic glands resemble those of the normal endometrium and may or may not be associated with sheet-like proliferation of malignant cells. Endometrioid adenocarcinoma is the most commonly seen morphologic variant of endometrial adenocarcinoma." "" + "childhood botryoid rhabdomyosarcoma" "A morphologic variant of embryonal rhabdomyosarcoma occurring in children. The tumor arises from organs with a mucosal epithelial surface. It is characterized by the formation of a cambium layer in the affected tissue and polypoid nodules within an abundant myxoid stroma." "" + "childhood vagina botryoid rhabdomyosarcoma" "A morphologic variant of embryonal rhabdomyosarcoma occurring in female children. The neoplasm arises from the vagina. It is characterized by the formation of a cambium layer in the affected tissue and polypoid nodules with an abundant myxoid stroma." "" + "botryoid-type embryonal rhabdomyosarcoma of the vagina" "A morphologic variant of embryonal rhabdomyosarcoma arising from the vagina. It is characterized by the formation of a cambium layer in the affected tissue and polypoid nodules within an abundant myxoid stroma." "" + "vaginal rhabdomyosarcoma" "A malignant mesenchymal neoplasm with skeletal muscle differentiation arising from the vagina." "" + "vulvar childhood botryoid-type embryonal rhabdomyosarcoma" "A morphologic variant of embryonal rhabdomyosarcoma occurring in female children. The neoplasm arises from the vulva. It is characterized by the formation of a cambium layer in the affected tissue and polypoid nodules with an abundant myxoid stroma." "" + "basal ganglia disease" "A disease involving the basal ganglia." "" + "colon Kaposi sarcoma" "A Kaposi sarcoma arising from the colon." "" + "vaginal tubular adenoma" "An adenoma that arises from the vagina and is characterized by a tubular architectural pattern." "" + "tubular adenoma" "A usually polypoid neoplasm arising from the glandular epithelium. It is characterized by a tubular architectural pattern. The neoplastic glandular cells have dysplastic features. Representative examples include the tubular adenomas of the colon and rectum." "" + "juvenile pilocytic astrocytoma" "A pilocytic astrocytoma that occurs during adolescence." "" + "childhood pilocytic astrocytoma" "A pilocytic astrocytoma that occurs during childhood." "" + "compartment syndrome" "Elevated pressure in a confined space enclosed by fascia or eschar, which may lead to vascular compromise and subsequent ischemic injury to the tissue within the space." "" + "obsolete pancreatoblastoma" "" "true" + "obsolete pancreatic solid pseudopapillary carcinoma" "" "true" + "motor nerve neuritis" "Inflammation of the peripheral motor nerves." "" + "ovarian adenoma benign" "A benign adenoma of ovary" "" + "rete ovarii cystadenofibroma" "An exceptionally rare cystadenofibroma that arises from the rete ovarii." "" + "breast intraductal proliferative lesion" "A group of non-invasive epithelial proliferations that occur in the ductal system of the breast. The vast majority of cases arise in the terminal ductal lobular units. This category includes atypical ductal hyperplasia, usual ductal hyperplasia, flat epithelial atypia, and ductal carcinoma in situ. There is an increased risk for subsequent development of invasive breast carcinoma." "" + "flat ductal epithelial atypia" "A breast lesion characterized by the presence of dilated terminal ductal lobular units in which the epithelial lining has been replaced by a single layer of mildly atypical cells, or there is atypical, monotonous epithelial hyperplasia of three to five layers. This lesion relates to columnar cell change with atypia and columnar cell hyperplasia with atypia." "" + "kidney pelvis sarcomatoid transitional cell carcinoma" "An infiltrating transitional cell carcinoma that arises from the renal pelvis and exhibits sarcomatoid features." "" + "obsolete familial melanoma" "" "true" + "adult botryoid rhabdomyosarcoma" "A morphologic variant of embryonal rhabdomyosarcoma occurring in adults. The neoplasm arises from organs containing a mucosal epithelial surface. It is characterized by the formation of a cambium layer in the affected tissue and polypoid nodules with an abundant myxoid stroma." "" + "adult vagina botryoid embryonal rhabdomyosarcoma" "A morphologic variant of embryonal rhabdomyosarcoma arising from the vagina. It is characterized by the formation of a cambium layer in the affected tissue and polypoid nodules with an abundant myxoid stroma. It occurs in female adults." "" + "ethmoid sinus ectopic meningioma" "An extremely rare meningioma that arises as a primary ectopic tumor in the ethmoid sinus." "" + "pineal region teratoma" "A mature or immature teratoma that arises in the pineal region." "" + "pineal region mature teratoma" "" + "pineal region immature teratoma" "" + "immature teratoma" "A teratoma composed of immature, fetal-type tissues." "" + "obsolete liver carcinoma" "A carcinoma that involves the liver." "" "true" + "oxyphilic endometrial endometrioid adenocarcinoma" "A primary endometrioid adenocarcinoma of the endometrium characterized by the presence of eosinophilic malignant glandular epithelial cells." "" + "mediastinal gray zone lymphoma" "A mediastinal lymphoma with molecular, morphologic, immunophenotypic, and clinical features of both mediastinal (thymic) large B-cell lymphoma and classical Hodgkin lymphoma. The identification of this group of lymphomas, along with recent gene expression profiling results (PDL2 gene expression in both mediastinal (thymic) large B-cell lymphoma tissues and Hodgkin lymphoma cell lines), further supports the hypothesis that mediastinal (thymic) large B-cell lymphomas and classical Hodgkin lymphomas are related entities." "" + "parasagittal meningioma" "A meningioma that affects the superior sagittal sinus and invades the parasagittal angle." "" + "obsolete hepatoblastoma" "" "true" + "spinal cord neuroblastoma" "A neuroblastoma that affects the spinal cord." "" + "obsolete spinal cord embryonal tumor, not otherwise specified" "" "true" + "skin tag" "A small, benign growth that arises from the skin. It is characterized by the presence of fibrovascular tissue lined by epidermis. It may be sessile or pendulous and usually occurs in sites where there is friction." "" + "reactive cutaneous fibrous lesion" "A benign, epidermal skin lesion characterized by overexpression of collagen during wound healing." "" + "fibroepithelial polyp" "A polypoid lesion composed of fibrous tissue and epithelium. Representative examples include skin tag, anal fibroepithelial polyp, and gingival fibroepithelial polyp." "" + "obsolete embryonal cancer" "" "true" + "small intestinal fibrosarcoma" "A usually aggressive malignant neoplasm arising from the small intestine. It is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation in a herringbone growth pattern." "" + "obsolete ureter small cell carcinoma" "" "true" + "ureter transitional cell carcinoma" "A carcinoma that arises from the transitional epithelium of the ureter. It is associated with tobacco use and usually presents with gross or microscopic hematuria." "" + "renal pelvis/ureter urothelial carcinoma" "A transitional cell carcinoma that arises from the renal pelvis and ureter." "" + "ovary mixed epithelial carcinoma" "" + "ovarian seromucinous carcinoma" "A malignant mixed epithelial neoplasm that arises from the ovary and is composed predominantly of serous and endocervical-type mucinous epithelium." "" + "familial ovarian carcinoma" "Ovarian carcinoma that has developed in relatives of patients that have a history of ovarian carcinoma." "" + "eye lymphoma" "A lymphoma that involves the eye." "" + "glomangiomatosis" "A benign multifocal proliferation of glomus cells forming clusters around dilated vascular spaces." "" + "" "true" + "thymoma type B1" "A thymic epithelial neoplasm characterized by the presence of expanded areas which resemble the normal thymic cortex. The neoplastic epithelial cells are small and scant and there is a dense T-lymphocytic component present. Areas of medullary differentiation with or without Hassall's corpuscles are also present. It may be associated with myasthenia gravis, pure red cell aplasia, and hypogammaglobulinemia. It has a low grade malignant potential. The majority of cases occur in the anterior mediastinum as Masaoka stage I tumors. A minority of the cases occur as stage II tumors." "" + "dental enamel hypoplasia" "Deficiency in the enamel tissue that results in the formation of grooves, pits, or dents on the surface of the affected teeth." "" + "papillary extrahepatic bile duct adenocarcinoma" "" + "urinary bladder inverted papilloma" "A neoplasm of the bladder in which the epithelial cells grow downward into the underlying supportive tissue, which often causes hematuria." "" + "bladder urothelial papilloma" "A benign neoplasm of the bladder that involves the transitional epithelium projecting above the surrounding epithelial surface and consisting of villous or arborescent outgrowths of fibrovascular stroma." "" + "urethra inverted papilloma" "A neoplasm of the urethra in which the epithelial cells grow downward into the underlying supportive tissue." "" + "ureter inverted papilloma" "A neoplasm of the ureter in which the epithelial cells grow downward into the underlying supportive tissue, which often causes hematuria." "" + "ureter urothelial papilloma" "A benign epithelial neoplasm that produces visible warty projections from the epithelial surface of the ureter." "" + "pediatric intraocular retinoblastoma" "Retinoblastoma during childhood that has not spread beyond the eye." "" + "childhood brain meningioma" "A brain meningioma that occurs during childhood." "" + "immature gastric teratoma" "A malignant teratoma that arises from the stomach." "" + "combat disorder" "Neurotic reactions to unusual, severe, or overwhelming military stress." "" + "telangiectatic osteogenic sarcoma" "An osteosarcoma usually arising from the metaphysis of long bones. It is characterized by the presence of a cystic architecture with blood-filled spaces. The prognosis is similar to that of conventional osteosarcoma." "" + "aleukemic monocytic leukemia cutis" "" + "rectal cloacogenic carcinoma" "A carcinoma that arises from the transitional zone at the junction of the rectum and anus." "" + "squamous cell carcinoma of rectum" "A very rare rectal carcinoma characterized by the presence of a malignant squamous cell infiltrate." "" + "acute canaliculitis" "" + "acute inflammation of lacrimal passage" "" + "bladder papillary urothelial carcinoma" "An invasive or non-invasive papillary transitional cell carcinoma of the urinary bladder. It is classified as low - or high-grade. -- 2003" "" + "micropapillary variant infiltrating bladder urothelial carcinoma" "An infiltrating bladder transitional cell carcinoma exhibiting micropapillary growth pattern. -- 2003" "" + "pancreatic cholera" "A rare syndrome characterized by severe watery diarrhea, hypokalemia, and achlorhydria. It is caused by the oversecretion of vasoactive intestinal peptide from the pancreatic islet cells." "True" + "dentin sensitivity" "Pain or discomfort caused by exposure of the dentin layer of tooth to thermal, tactile, or other stimuli." "" + "peripheral epithelioid sarcoma" "An epithelioid sarcoma involving the extremities. It usually presents as nodular masses in the dermis and subcutaneous tissues or in the tendons and fascia. It frequently recurs and metastasizes to other anatomic sites. The most common sites of metastasis are the lungs, lymph nodes, bones, and brain." "" + "epithelioid sarcoma" "An aggressive malignant neoplasm of uncertain differentiation, characterized by the presence of epithelioid cells forming nodular patterns. The nodules often undergo central necrosis, resulting in a pseudogranulomatous growth pattern. It usually occurs in young adults. The most common sites of involvement are the extremities (distal-type epithelioid sarcoma), and less frequently the pelvis, perineum, and genital organs (proximal-type epithelioid sarcoma)." "" + "obsolete mitochondrial myopathy" "" "true" + "intermediate cell type uveal melanoma" "Uveal melanoma characterized by the presence of intermediate cells which are similar to but smaller than epithelioid cells." "" + "intermediate cell type iris melanoma" "Iris melanoma characterized by the presence of intermediate cells which are similar to but smaller than epithelioid cells." "" + "intermediate cell type choroid melanoma" "Choroid melanoma characterized by the presence of intermediate cells which are similar to but smaller than epithelioid cells." "" + "intermediate cell type ciliary body melanoma" "Ciliary body melanoma characterized by the presence of intermediate cells which are similar to but smaller than epithelioid cells." "" + "gallbladder mucinous adenocarcinoma" "An adenocarcinoma that arises from the gallbladder. It is characterized by the presence of extracellular mucin that constitutes more than fifty-percent of the tumor." "" + "obsolete disease of anatomical entity" "" "true" + "mitochondrial disease" "" + "obsolete gemistocytic astrocytoma" "" "true" + "cerebral astrocytoma" "An astrocytoma that arises from the cerebral hemispheres." "" + "obsolete protoplasmic astrocytoma" "" "true" + "obsolete dentin dysplasia" "" "true" + "ovarian mucinous cystadenofibroma" "A benign neoplasm of the ovary characterized by the presence of cystic structures lined by mucinous columnar epithelial cells in a fibrotic stroma." "" + "tendon sheath lipoma" "A benign tumor, composed of mature adipocytes, that arises within the tendon sheath." "" + "lumbosacral lipoma" "A benign well-circumscribed tumor, composed of lobules of mature adipocytes, that arises within the lumbosacral tissue of the spine." "" + "mucinous intrahepatic cholangiocarcinoma" "An intrahepatic cholangiocarcinoma that produces abundant mucin." "" + "lung mucous gland adenoma" "A benign adenomatous neoplasm that arises from the mucous glands in the bronchus." "" + "glottis squamous cell carcinoma" "A squamous cell carcinoma of the larynx that arises from the glottic area. It may remain localized for a long period then in late disease stage, it may spread to the opposite true vocal cord, supraglottic and subglottic areas, and the soft tissues of the neck. Hoarseness is the presenting symptom." "" + "childhood immature teratoma of ovary" "An immature teratoma that arises from the ovary and occurs in children." "" + "Borst-Jadassohn intraepidermal carcinoma" "A rare cutaneous lesion presenting as a scaly verrucous plaque. Morphologically, the plaque contains nests of basaloid cells." "" + "obsolete uveal epithelioid cell melanoma" "" "true" + "choroid epithelioid cell melanoma" "A epithelioid cell melanoma that involves the optic choroid." "" + "epithelioid cell uveal melanoma" "A uveal melanoma characterized by the presence of malignant large epithelioid melanocytes." "" + "ciliary body epithelioid cell melanoma" "A epithelioid cell melanoma that involves the ciliary body." "" + "basaloid large cell lung carcinoma" "A morphologic variant of large cell lung carcinoma characterized by the presence of a solid nodular or anastomotic trabecular growth pattern, peripheral palisading, and comedo type necrosis." "" + "cervical basaloid carcinoma" "An aggressive variant of cervical squamous cell carcinoma characterized by the presence of nests of malignant basaloid squamous cells with scant amount of cytoplasm." "" + "basaloid carcinoma of the penis" "An aggressive, human papillomavirus-related squamous cell carcinoma that arises from the penis. It is characterized by the presence of nests of small malignant cells. The malignant cells tend to invade deeply into the adjacent tissues. Comedo-type necrosis is often present." "" + "human papillomavirus-related penile squamous cell carcinoma" "A squamous cell carcinoma that arises from the penis and is caused by human papillomavirus infection. Morphologic variants include basaloid carcinoma and warty carcinoma." "" + "vulvar basaloid squamous cell carcinoma" "A squamous cell carcinoma that arises from the vulva and is characterized by the presence of nests of malignant basaloid cells with a scant amount of cytoplasm." "" + "skin basaloid carcinoma" "A basaloid squamous cell carcinoma that involves the zone of skin." "" + "thymic basaloid carcinoma" "A rare primary thymic carcinoma, characterized by the presence of tumor cell lobules with peripheral palisading, and a basophilic staining pattern. More than half of reported cases were associated with the presence of a multilocular thymic cyst. Metastases to lung and liver have been reported in approximately 30% of cases." "" + "esophageal basaloid carcinoma" "A rare morphologic variant of esophageal squamous cell carcinoma. Histologically, it is composed of closely packed cells with hyperchromatic nuclei and scant basophilic cytoplasm. It has a similar prognosis to the conventional squamous cell carcinoma of the esophagus. (WHO)" "" + "multiple skull base meningioma" "Multiple meningiomas that affect the skull base." "" + "spinal cord dermoid cyst" "A dermoid cyst that involves the spinal cord." "" + "obsolete lipid-rich breast carcinoma" "" "true" + "malignant melanocytic peripheral nerve sheath tumor of mediastinum" "A rare variant of malignant peripheral nerve sheath tumor that arises from the mediastinum. It is characterized by the presence of malignant cells that contain melanin." "" + "adult cystic teratoma" "A cystic teratoma that occurs in an adult." "" + "lung mixed small cell and squamous cell carcinoma" "A lung carcinoma characterized by a combination of small cell carcinoma and squamous cell carcinoma." "" + "multicentric papillary thyroid carcinoma" "A papillary carcinoma arising from the thyroid gland from multiple foci." "" + "columnar cell variant thyroid gland papillary carcinoma" "A morphologic variant of papillary carcinoma of the thyroid gland characterized by the presence of pseudostratified malignant follicular cells." "" + "tall cell variant thyroid gland papillary carcinoma" "A morphologic variant of papillary carcinoma of the thyroid gland characterized by the presence of tall malignant follicular cells, arranged in papillary and trabecular patterns. Necrotic changes and high mitotic activity are present." "" + "splenic manifestation of hairy cell leukemia" "A hairy cell leukemia that involves the spleen." "" + "childhood epithelioid sarcoma" "An epithelioid sarcoma occurring in childhood." "" + "testicular yolk sac tumor, macrocystic pattern" "A yolk sac tumor that arises from the testis and is characterized by the presence of collections of thin-walled spaces." "" + "diaphragma sellae meningioma" "A meningioma that affects the diaphragma sellae." "" + "epiglottis neoplasm" "A benign or malignant neoplasm that affects the epiglottis." "" + "neoplasm of hypopharynx" "A neoplasm (disease) that involves the hypopharynx." "" + "refractory hairy cell leukemia" "Hairy cell leukemia that is resistant to treatment." "" + "refractory hematologic cancer" "A hematologic malignancy that is resistant to treatment." "" + "radiation cystitis" "Inflammation of the bladder due to irradiation." "" + "obsolete HCL-v" "" "true" + "urinary bladder small cell neuroendocrine carcinoma" "A highly aggressive carcinoma, histologically resembling small cell lung carcinoma. In most cases it is associated with carcinoma in situ." "" + "obsolete gallbladder small cell carcinoma" "" "true" + "esophageal small cell neuroendocrine carcinoma" "An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the esophagus. It is characterized by the presence of malignant small cells." "" + "carcinoma of esophagus" "Esophageal carcinoma (EC) is a tumor arising in the epithelial cells lining the esophagus and can be divided into two subtypes: esophageal squamous cell carcinoma (ESCC) and esophageal adenocarcinoma (EAC)." "" + "ampulla of vater small cell neuroendocrine carcinoma" "An aggressive neuroendocrine carcinoma arising from the ampulla of Vater and the periampullary region. Morphologically, it is characterized by the presence of small malignant cells, necrosis, and a high mitotic rate. Signs and symptoms include jaundice, abdominal pain, anorexia, nausea, vomiting, and weight loss." "" + "duodenal neuroendocrine neoplasm" "A neuroendocrine neoplasm that involves the duodenum." "" + "cystitis cystica" "A reactive inflammatory disorder affecting the bladder. It is characterized by the development of small cysts in the bladder wall. The cysts are lined by urothelial cells." "" + "obsolete endometrial small cell carcinoma" "" "true" + "Bartholin gland small cell carcinoma" "A rare neuroendocrine carcinoma that arises from the Bartholin gland and is characterized by the presence of malignant small cells and high mitotic activity." "" + "vulvar neuroendocrine carcinoma" "A neuroendocrine carcinoma that arises from the vulva. This category includes small cell and large cell neuroendocrine carcinoma. Most small cell neuroendocrine carcinomas of the vulva are Merkel cell carcinomas." "" + "obsolete prostate small cell carcinoma" "" "true" + "thymus small cell carcinoma" "An aggressive, small cell, poorly differentiated thymic neuroendocrine carcinoma, characterized by the presence of a high mitotic rate and numerous apoptotic bodies." "" + "obsolete laryngeal small cell carcinoma" "" "true" + "prostate stromal sarcoma" "A rare malignant neoplasm arising from specialized prostatic stroma. It is characterized by the presence of stromal overgrowth and hypercellularity, increased number of mitotic figures, and pleomorphism." "" + "stromal sarcoma" "A malignant neoplasm characterized by the presence of atypical mesenchymal-stromal cells. Representative examples include endometrial stromal sarcoma and prostate stromal sarcoma." "" + "lung occult adenocarcinoma" "A lung adenocarcinoma detectable by sputum cytology only. The primary tumor is undetectable radiographically or during bronchoscopy; therefore, it can not be assessed." "" + "lung occult large cell carcinoma" "A large cell lung carcinoma detectable by sputum cytology only. The primary tumor is undetectable radiographically or during bronchoscopy; therefore, it can not be assessed." "" + "cloacogenic carcinoma" "An anal carcinoma arising from the transitional zone of the anal canal." "" + "anus basaloid carcinoma" "An anal squamous cell carcinoma characterized by the presence of malignant cells with hyperchromatic nuclei and peripheral nuclear palisading." "" + "anal verrucous carcinoma" "A large, well differentiated squamous cell carcinoma with a cauliflower-like appearance, characterized by the presence of an exophytic and endophytic growth pattern. Morphologically, there is papillomatosis and acanthosis present, however cytologically the neoplastic squamous cells have a benign appearance. Dysplastic changes are minimal. It does not respond to conservative treatment and it is regarded by many authors as an intermediate lesion between condyloma acuminatum and squamous cell carcinoma." "" + "Buschke Lowenstein tumor" "A verrucous carcinoma of the skin or mucosa that occurs in the anogenital region." "" + "anal canal squamous cell carcinoma" "A squamous cell carcinoma arising from the mucosa of the anal canal." "" + "pituitary gland mixed eosinophil-basophil adenoma" "An epithelial neoplasm of the anterior pituitary gland in which the neoplastic cells stain positive with acidic and basic dyes." "" + "benign dermal neurilemmoma" "" + "subacute lymphocytic thyroiditis" "Thyroiditis associated with painless enlargement of the thyroid gland. It occurs more frequently in females and is characterized by alterations between hyperthyroidism and hypothyroidism and the eventual return to normal thyroid gland function." "" + "ovarian endometrioid cystadenoma" "A benign neoplasm of the ovary characterized by the presence of cystic structures lined by endometrial-type well-differentiated cells." "" + "" "true" + "hereditary clear cell renal cell carcinoma" "A manifestation of von Hippel-Lindau disease or other familial renal cell cancer syndromes that present as a malignant epithelial neoplasm of the kidney. It is characterized by the presence of lipid-containing clear cells within a vascular network. The tumor usually is bilateral and polycentric, and metastasizes to unusual sites. Late metastasis is common." "" + "obsolete maxillary sinus adenoid cystic carcinoma" "" "true" + "intermediate malignant teratoma" "An immature teratoma characterized by the presence of an intermediate amount of undifferentiated tissues." "" + "melanomatosis" "" + "lung combined large cell neuroendocrine carcinoma" "A subtype of large cell neuroendocrine lung carcinoma characterized by the presence of large neuroendocrine cells in combination with adenocarcinoma, squamous cell carcinoma, giant cell carcinoma and/ or spindle cell carcinoma." "" + "psammomatous meningioma" "A WHO grade I meningioma characterized by the presence of psammoma bodies that predominate over the meningeal cells." "" + "fibrous meningioma" "A WHO grade I meningioma characterized by the presence of spindle cells that form bundles in a collagen matrix." "" + "meningothelial meningioma" "A WHO grade I meningioma characterized by the presence of tumor cells that form lobules. The tumor cells are generally uniform. Whorls and psammoma bodies are usually not present." "" + "transitional meningioma" "A WHO grade I meningioma characterized by the coexistence of meningothelial cells and fibrous architectural patterns." "" + "noninvasive malignant thymoma" "A morphologically malignant thymoma that is entirely confined within the capsule." "" + "gallbladder papillary neoplasm with an associated invasive carcinoma" "An intraluminal papillary neoplasm, usually with high grade intraepithelial neoplasia, that arises from the gallbladder. It is associated with the presence of an invasive carcinoma. The carcinomatous component is usually an adenocarcinoma." "" + "gallbladder pleomorphic giant cell adenocarcinoma" "" + "breast giant fibroadenoma" "A breast fibroadenoma characterized by a very large size. This term has also been used as a synonym for juvenile fibroadenoma by some authors. The latter is characterized by epithelial hyperplasia and an increased stromal cellularity." "" + "spinal meninges cancer" "A malignant neoplasm involving the meninx of spinal cord." "" + "chronic lymphocytic leukemia/small lymphocytic lymphoma with immunoglobulin heavy chain variable-region gene somatic hypermutation" "A recently recognized variant of chronic lymphocytic leukemia/small lymphocytic lymphoma (CLL/SLL) expressing somatic hypermutations of the Immunoglobulin heavy chain (IGH) genes. The recognition of this variant alters the belief that CLL/SLL is always derived from a naive, pregerminal center B-cell. The presence of somatic hypermutations of IGH genes occurs in approximately 50% of CLL/SLL cases and implies a postgerminal center, memory origin. Patients with this variant of CLL/SLL have a favorable prognosis, with a reported median survival of more than 24 years." "" + "childhood central nervous system embryonal carcinoma" "An embryonal carcinoma that arises from the central nervous system and occurs during childhood." "" + "embryonal carcinoma of the central nervous system" "A embryonal carcinoma that involves the central nervous system." "" + "obsolete central nervous system embryonal carcinoma" "" "true" + "adult central nervous system embryonal carcinoma" "A embryonal carcinoma of the central nervous system that occurs in an adult." "" + "pancreatic mucinous cystadenocarcinoma" "A mucinous cystadenocarcinoma that involves the pancreas." "" + "obsolete pancreatic mucinous cystadenoma" "" "true" + "pancreatic mucinous-cystic neoplasm with an associated invasive carcinoma" "A cystic epithelial neoplasm characterized by the presence of columnar mucin-producing epithelial cells, ovarian-type stroma formation, and a focal or extensive invasive carcinomatous component." "" + "pancreatic non-invasive mucinous cystadenocarcinoma" "A non-invasive malignant cystic epithelial neoplasm arising from the exocrine pancreas. It occurs almost exclusively in women. Small tumors are usually found incidentally. Larger tumors usually produce symptoms related to compression of the adjacent structures. It is characterized by the presence of columnar, mucin-producing epithelial cells which often form papillary projections with irregular branching and budding. There is cellular stratification, severe dysplasia, and high mitotic activity present. Complete surgical removal is usually associated with an excellent prognosis." "" + "female stress incontinence" "The involuntary loss of urine in females secondary to insufficient strength of the pelvic floor muscles; this can result from physical changes following pregnancy and childbirth, or as a response to a decrease in estrogen during menopause." "" + "uterine corpus apoplectic leiomyoma" "A morphologic variant of uterine corpus leiomyoma characterized by zones of hemorrhagic infarction surrounded by hypercellular areas. It usually develops in women of childbearing years, particularly those that are pregnant, post-partum, or taking oral contraceptives." "" + "uterine corpus cellular leiomyoma" "A morphologic variant of leiomyoma arising from the uterine corpus. It is characterized by a dense cellular infiltrate composed of spindle or round cells with scant cytoplasm and a less obvious interlacing fascicle pattern." "" + "bladder urachal urothelial carcinoma" "A transitional cell carcinoma of the urinary bladder that arises from the urachal epithelium." "" + "lymphoepithelioma-like acinar prostate adenocarcinoma" "A variant of prostate carcinoma characterized by the presence of malignant cells forming syncytial patterns and dense lymphocytic infiltrates." "" + "selective IgD deficiency disease" "A rare dysgammaglobulinemia characterized by low or undetectable serum levels of immunoglobulin class D (IgD). It is an uncommon primary antibody deficiency. It is most likely an inherited immunodeficiency. It may be caused by decreased or inefficient production of IgD from progenitor B cells without any corresponding decreases in the other isotypes. Most affected persons are asymptomatic and do not appear to be at increased risk for infection." "" + "hereditary fallopian tube carcinoma" "Fallopian tube carcinoma that has developed in relatives of patients that have a history of fallopian tube carcinoma." "" + "obsolete lung clear cell carcinoma" "" "true" + "cribriform variant testicular seminoma" "A morphologic variant of testicular seminoma characterized by the presence of seminoma cells arranged in cribriform patterns and few lymphocytes." "" + "premenstrual tension" "A combination of distressing physical, psychologic, or behavioral changes that occur during the luteal phase of the menstrual cycle. Symptoms of pms are diverse (such as pain, water-retention, anxiety, cravings, and depression) and they diminish markedly 2 or 3 days after the initiation of menses." "" + "nodular episcleritis" "" + "obsolete congenital epulis" "" "true" + "uterine corpus adenocarcinofibroma" "A adenocarcinofibroma that involves the body of uterus." "" + "adenocarcinoma of skene gland origin" "A rare adenocarcinoma arising from Skene gland. It presents as a periurethral or anterior vaginal submucosal mass. It is characterized by morphological features similar to prostate adenocarcinoma." "" + "secretory uterine corpus endometrioid adenocarcinoma" "An endometrioid adenocarcinoma arising from the endometrium. Morphologically it is characterized by the presence of malignant glandular cells containing glycogen vacuoles which are usually subnuclear and reminiscent of early secretory endometrium." "" + "mucin-rich endometrial endometrioid adenocarcinoma" "" + "childhood extraosseous osteosarcoma" "An osteosarcoma arising from the soft tissue, and occurring during childhood." "" + "testicular yolk sac tumor, endodermal sinus pattern" "A yolk sac tumor that arises from the testis and is characterized by the presence of connective tissue stalks that contain a blood vessel and are lined by cells with clear cytoplasm and prominent nucleoli." "" + "obsolete astroblastoma" "" "true" + "urinary system neoplasm" "A benign or malignant, primary or metastatic neoplasm involving the urinary system. --2003" "" + "breast adenomyoepithelial adenosis" "An uncommon variant of breast adenosis characterized by the presence of irregularly shaped glands, epithelial cells with eosinophilic cytoplasm, and prominent myopepithelial cells. Mild atypia may be present." "" + "stage IVb bladder cancer" "Stage IV includes T4b, NO,MO/any T NI, MO/ any T N2 MO,/ any T N3 MO/ any T any N M1 : T4b: Tumor invades the pelvic wall, abdominal wall. N1: Metastasis in a single lymph node, 2 cm or less in greatest dimension. N2: Metastasis in a single lymph node, more than 2 cm but not more than 5 cm in greatest dimension; or multiple lymph nodes, none more than 5 cm in greatest dimension. N3: Metastasis in a lymph node more than 5 cm in greatest dimension. M1: Distant metastasis." "" + "ovarian serous cystadenofibroma" "A benign neoplasm of the ovary characterized by the presence of cystic structures lined by serous epithelial cells in a fibrotic stroma." "" + "serous cystadenofibroma" "A benign neoplasm characterized by the presence of cystic structures lined by serous epithelial cells in a fibrotic stroma. Most commonly the primary site is the ovary, but serous cystadenofibromas can occur in the pancreas as well." "" + "ovarian serous adenofibroma" "A benign neoplasm of the ovary characterized by the presence of glands with serous epithelial cells in a fibrotic stroma." "" + "cranial nodular fasciitis" "A rare self-limiting, rapidly growing, non-encapsulated benign neoplasm that arises from the cranium. This is an osteolytic lesion. It is characterized by the presence of plump spindle-shaped fibroblasts, multinucleated osteoclast-like giant cells, chronic inflammatory infiltrate, red blood cell extravasation, and high mitotic activity." "" + "nodular fasciitis" "A self-limiting, rapidly growing, non-encapsulated benign neoplasm that arises from the soft tissues. It is characterized by the presence of plump spindle-shaped fibroblasts, multinucleated osteoclast-like giant cells, chronic inflammatory infiltrate, red blood cell extravasation, and high mitotic activity." "" + "fasciitis" "Inflammation process in fascia." "" + "fibroblastic neoplasm" "A benign, intermediate, or malignant mesenchymal neoplasm characterized by the presence of neoplastic fibroblasts." "" + "subcutaneous tissue disease" "A disease involving the superficial fascia." "" + "esophageal tuberculosis" "A tuberculosis that involves the esophagus." "" + "nephrogenic adenoma of urinary bladder" "A metaplastic lesion of the urothelium found in the urinary bladder. It is characterized by the presence of aggregates of cuboidal or hobnail cells and represents a reaction of the urothelium to injury caused by instrumentation, surgery or calculi." "" + "nephrogenic adenoma" "So-called nephrogenic adenoma is a distinct metaplastic lesion of the urothelium characterized by aggregates of cuboidal or hobnail cells. These cells line thin papillary fronds on the surface or form tubular structures within the lamina propria." "" + "urethra cancer" "A malignant neoplasm involving the urethra" "" + "pediatric ovarian dysgerminoma" "A dysgerminoma that arises from the ovary and occurs in children." "" + "ovarian stromal hyperthecosis" "A non-neoplastic disorder that usually affects postmenopausal women. It is characterized by the leuteinization of ovarian stromal cells. The ovaries are bilaterally involved and enlarged. When it affects women in reproductive age, it causes virilization, high blood pressure, and increased insulin levels." "" + "thymic dysplasia" "The developmental arrest and architectural distortion of the thymus that results in immunodeficiency." "" + "rectal sarcomatoid carcinoma" "A biphasic rectal carcinoma with a spindle cell, sarcomatoid component." "" + "testicular yolk sac tumor, solid pattern" "A yolk sac tumor that arises from the testis and is characterized by the presence of aggregates of polygonal malignant cells with clear cytoplasm and prominent nucleoli." "" + "vulvar keratinizing squamous cell carcinoma" "A squamous cell carcinoma that arises from the vulva and is characterized by the presence of keratin pearls." "" + "superficial urinary bladder carcinoma" "A term used by urologists to describe an infiltrating carcinoma of the bladder that has not invaded into the muscularis propria of the bladder wall regardless of histologic type or grade." "" + "pituitary hypoplasia" "Incomplete development of the pituitary gland." "" + "adrenal medulla carcinoma" "A carcinoma that arises from epithelial cells of the adrenal medulla" "" + "female urethral cancer" "A cancer that involves the female urethra." "" + "squamous cell skin papilloma" "A squamous papilloma that involves the zone of skin." "" + "lymphohistiocytoid mesothelioma" "" + "sarcomatoid mesothelioma" "A diffuse malignant mesothelioma arising from the pleura and less often the peritoneum. It is characterized by the presence of spindle cells. Anaplastic morphologic features and multinucleated malignant cells may also be seen." "" + "malignant pleural mesothelioma" "A malignant neoplasm that arises from mesothelial cells in the pleura and shows a diffuse growth pattern. It arises on the parietal and sometimes visceral pleura as multiple small nodules that later become confluent and invade the chest wall adipose tissue and muscle. Asbestos exposure is the main cause for the development of pleural malignant mesothelioma. It usually affects patients over sixty years of age. The latency period is long. Patients usually present with pleural effusion, dyspnea and chest wall pain. Additional signs and symptoms include chills, sweating, weight loss, and weakness. Morphologic variants include epithelioid, desmoplastic, sarcomatoid, and biphasic mesothelioma. The clinical course is usually aggressive." "" + "pulmonary vein leiomyosarcoma" "An aggressive malignant smooth muscle neoplasm, arising from the pulmonary vein. It is characterized by a proliferation of neoplastic spindle cells." "" + "pulmonary artery leiomyosarcoma" "An aggressive malignant smooth muscle neoplasm, arising from the pulmonary artery It is characterized by a proliferation of neoplastic spindle cells." "" + "superior vena cava leiomyosarcoma" "An aggressive malignant smooth muscle neoplasm, arising from the superior vena cava. It is characterized by a proliferation of neoplastic spindle cells." "" + "cerebral primitive neuroectodermal tumor" "A central nervous system embryonal tumor, not otherwise specified arising from the cerebral hemispheres." "" + "colonic L-cell glucagon-like peptide producing tumor" "A neuroendocrine tumor that arises from the colon and produces glucagon-like peptides. Morphologically, it is characterized by the presence of neoplastic cells forming tubular or trabecular patterns." "" + "L-cell glucagon-like peptide-producing neuroendocrine tumor" "A neuroendocrine tumor that arises from the gastrointestinal tract and produces glucagon-like peptides. Morphologically, it is characterized by the presence of neoplastic cells forming tubular or trabecular patterns." "" + "neuroendocrine tumor of the colon, well differentiated, low or intermediate grade tumor" "A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the colon." "" + "vulvar keratoacanthoma-like carcinoma" "A rapidly growing squamous cell carcinoma that arises from the vulva. It is self-limited and is characterized by the presence of a central crater that contains squamous cells. The proliferating squamous cells infiltrate the dermis below and produce keratin masses that are pushed towards the surface of the tumor." "" + "vulvar non-keratinizing squamous cell carcinoma" "A squamous cell carcinoma that arises from the vulva and is characterized by the absence of keratin pearls." "" + "ovarian endometrioid cystadenofibroma" "A benign neoplasm of the ovary characterized by the presence of cystic structures lined by endometrial-type well-differentiated cells in a fibrotic stroma." "" + "cutaneous anthrax" "An anthrax disease that results in infection located in skin, has material basis in Bacillus anthracis, which is transmitted by contact with infected animals or animal products. The infection has symptom skin lesion that eventually forms an ulcer with a black center." "" + "pineal region germinoma" "A germinoma that arises from the pineal gland." "" + "pituitary hormone deficiency from tumoral origin" "" + "childhood brain germinoma" "A germinoma arising from the brain during childhood." "" + "childhood central nervous system germinoma" "A germinoma arising from the central nervous system during childhood." "" + "childhood germ cell brain tumor" "A germ cell tumor arising from brain during childhood." "" + "polyvesicular vitelline pattern testicular yolk sac tumor" "A yolk sac tumor that arises from the testis and is characterized by the presence of collections of vesicles that are surrounded by connective tissue." "" + "endometrial endometrioid adenocarcinoma with spindled epithelial cells" "A primary endometrioid adenocarcinoma of the endometrium characterized by the presence of spindled malignant epithelial cells." "" + "uterine corpus perivascular epithelioid cell tumor" "A neoplasm with perivascular epithelioid cell differentiation arising from the uterine corpus wall." "" + "ovarian clear cell cystadenocarcinoma" "A malignant glandular epithelial neoplasm arising from the ovary. It is characterized by the presence of clear and hobnail cells and cystic structures." "" + "ovarian clear cell adenocarcinoma" "A malignant glandular epithelial neoplasm characterized by the presence of clear and hobnail cells. It is highly associated with ovarian endometriosis, pelvic endometriosis and paraendocrine hypercalcemia." "" + "polyp of middle ear" "A benign polypoid growth in the middle ear." "" + "chronic metabolic polyneuropathy" "" + "monoclonal gammopathy of uncertain significance" "A condition characterized by the presence of a monoclonal gammopathy (MG) in which the clonal mass has not reached a predefined state in which the condition is considered malignant. Up to 25% of cases of monoclonal gammopathy of undetermined significance (MGUS) progress to a B-cell malignancy or myeloma. MGUS may occur in conjunction with various carcinomas, chronic inflammatory and infectious conditions, and other diseases." "" + "plasma cell neoplasm" "A clonal proliferation of immunoglobulin-secreting plasma cells. This category includes plasma cell myeloma, plasma cell leukemia, plasmacytoma, monoclonal immunoglobulin deposition disease, and monoclonal gammopathy of undetermined significance." "" + "diffuse intraductal papillomatosis" "" + "epididymal adenomatoid tumor" "A benign, usually asymptomatic small mesothelial tumor that arises from the epididymis." "" + "benign neoplasm of epididymis" "A benign neoplasm that involves the epididymis." "" + "obsolete hypogonadotropism" "" "true" + "acantholytic variant squamous cell breast carcinoma" "A squamous cell carcinoma that arises from the breast parenchyma and is characterized by cellular discohesion resulting in a pseudoangiosarcomatous pattern." "" + "spindle cell variant squamous cell breast carcinoma" "A squamous cell carcinoma that arises from the breast parenchyma and is characterized by the presence of spindle-shaped malignant cells." "" + "large cell keratinizing variant squamous cell breast carcinoma" "A squamous cell carcinoma that arises from the breast parenchyma and is characterized by the presence of large malignant cells that exhibit keratinization." "" + "childhood pleomorphic rhabdomyosarcoma" "A rare aggressive rhabdomyosarcoma occurring in children. The neoplasm is characterized by the presence of bizarre round, spindle, and polygonal cells." "" + "pleomorphic rhabdomyosarcoma" "An aggressive malignant mesenchymal neoplasm with skeletal muscle differentiation, occurring in adults and rarely in children. The tumor is characterized by the presence of bizarre round, spindle, and polygonal cells. Clinical presentation includes a rapidly enlarging painful mass usually of the lower extremities." "" + "chronic lymphoproliferative disorder of NK-cells" "An Epstein-Barr virus negative disorder with a chronic clinical course affecting predominantly adults and characterized by the proliferation of large granular lymphocytes with natural killer cell immunophenotype. The T-cell receptor genes are not rearranged." "" + "duodenal somatostatinoma" "A somatostatin-producing neuroendocrine tumor that arises from the duodenum. It is characterized by the presence of tubulo-glandular structures." "" + "duodenal neuroendocrine tumor, well differentiated, low or intermediate grade" "A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the duodenum." "" + "large cell carcinoma with rhabdoid phenotype" "A rare poorly differentiated morphologic variant of large cell lung carcinoma characterized by the presence of rhabdoid cells." "" + "petrous apex meningioma" "A meningioma that affects the petrous apex." "" + "cervical keratinizing squamous cell carcinoma" "A variant of cervical squamous cell carcinoma characterized by the presence of keratin pearls. Intercellular bridges and cytoplasmic keratinization are usually present." "" + "posterior urethra cancer" "A malignant neoplasm that affects the portion of the urethra that is close to the bladder." "" + "Osgood-Schlatter disease" "Osteochondrosis of the growth plate near the tibial tuberosity." "" + "osteochondrosis" "A condition that is characterized by defective bone growth that affects the growth centers of bone." "" + "active peptic ulcer disease" "" + "vulvar proximal-type epithelioid sarcoma" "An epithelioid sarcoma of the proximal type involving the vulva." "" + "proximal-type epithelioid sarcoma" "An epithelioid sarcoma predominantly involving the pelvis, perineum, and genital organs. It tends to have a more aggressive clinical course as compared to the more frequently seen distal-type epithelioid sarcoma." "" + "obsolete lymphatic system disease" "" "true" + "ulcer disease" "A lesion on the surface of the skin or a mucous surface, produced by the sloughing of inflammatory necrotic tissue." "" + "pediatric infratentorial ependymoma" "An ependymoma that arises from the infratentorial region of the brain and occurs during childhood." "" + "infratentorial ependymal tumor" "An ependymal tumor arising from the infratentorial region of the brain." "" + "pediatric supratentorial ependymoma" "An ependymoma that arises from the supratentorial region of the brain and occurs during childhood." "" + "supratentorial ependymal tumor" "An ependymal tumor arising from the supratentorial region of the brain." "" + "extrahepatic bile duct papillary adenoma" "An adenoma that arises from the extrahepatic bile ducts. It is characterized by the presence of a papillary growth pattern." "" + "small intestinal L-cell glucagon-like peptide producing tumor" "A neuroendocrine tumor that arises from the small intestine and produces glucagon-like peptides. Morphologically, it is characterized by the presence of neoplastic cells forming tubular or trabecular patterns." "" + "intraductal breast papillomatosis" "A benign breast neoplasm characterized by the proliferation of multiple papillomas within the lumen of the ducts." "" + "intraductal papillomatosis" "A neoplastic process characterized by the presence of multiple intraductal papillomas." "" + "focal intraductal papillomatosis" "" + "Wolffian adnexal tumor" "A benign or malignant epithelial neoplasm of probable Wolffian origin. It predominantly arises from the broad ligament and presents as a unilateral adnexal mass." "" + "lumbar spinal canal and spinal cord meningioma" "A meningioma that arises from the meninges of the lumbar region of the spinal cord." "" + "childhood central nervous system mixed germ cell tumor" "A mixed germ cell tumor that arises from the central nervous system and occurs during childhood." "" + "mixed germ cell tumor of central nervous system" "A malignant germ cell tumor of the central nervous system characterized by the presence of at least two types of germ cell neoplasia." "" + "female orgasmic disorder" "A sexual disorder in which a woman fails to achieve orgasm during sexual intercourse." "" + "malignant neoplasm of endocervix" "A cancer that involves the endocervix." "" + "peptic ulcer perforation" "Penetration of a peptic ulcer through the wall of duodenum or stomach allowing the leakage of luminal contents into the peritoneal cavity." "" + "periductal breast myoepitheliosis" "A neoplastic process characterized by the proliferation of spindle to cuboidal myoepithelial cells around small breast ducts." "" + "breast myoepitheliosis" "A multifocal neoplastic process characterized by the proliferation of spindle to cuboidal myoepithelial cells within and/or around small breast ducts." "" + "pediatric infratentorial ependymoblastoma" "An embryonal tumor with multilayered rosettes, C19MC-altered that arises from the infratentorial region and occurs in children." "" + "ependymoblastoma" "Ependymoblastoma is a rare type of primitive neuroectodermal tumor (PNET) that usually occurs in young children under the age of 2 and is histologically distinguished by the production of ependymoblastic rosettes. It is associated with an aggressive course and a poor prognosis." "" + "acute gonococcal endometritis" "" + "acute endometritis" "An acute, usually bacterial infection affecting the endometrium. It is characterized by the presence of neutrophils or microabscesses in the endometrial glands. Symptoms include fever, lower abdominal pain, and vaginal discharge." "" + "anal gland adenocarcinoma" "An anal adenocarcinoma arising from the epithelium of the anal glands. The overlying anal mucosa does not show evidence of neoplastic changes." "" + "squamous papillomatosis" "A benign squamous neoplasm characterized by a papillary growth pattern, diffusely involving a specific anatomic site." "" + "subareolar duct papillomatosis" "" + "breast cystic hypersecretory carcinoma" "" + "breast ductal adenoma" "A benign, well circumscribed neoplasm that is located within the lumen of a duct in the breast parenchyma. It is characterized by the presence of glandular structures at the periphery and fibrous tissue at the center of the tumor." "" + "pregnancy adenoma" "A tubular type adenoma of the breast in which, during pregnancy and lactation, the epithelial cells show extensive secretory changes." "" + "urinary bladder tuberculosis" "A tuberculosis that involves the urinary bladder." "" + "breast apocrine adenoma" "A rare, benign and well circumscribed neoplasm that arises from the breast. It is characterized by the proliferation of epithelial cells with extensive apocrine metaplasia." "" + "mixed epithelial/mesenchymal metaplastic breast carcinoma" "An invasive breast carcinoma characterized by the presence of a mesenchymal cellular component. The mesenchymal cellular component ranges from cartilaginous and osseous, to purely sarcomatous." "" + "osteosarcoma arising in bone Paget disease" "A sarcomatous transformation of pre-existing Paget disease of the bone. Osteosarcomas arising from Paget disease of the bone are high grade lesions and usually have a poor prognosis." "" + "ceruminoma" "A benign epithelial neoplasm derived from ceruminous glands in the external auditory canal. It presents as a grey mass covered by skin. It is characterized by a proliferation of glands composed of cells with abundant eosinophilic and granular cytoplasm." "" + "infiltrating bladder urothelial carcinoma sarcomatoid variant" "An invasive transitional cell carcinoma of the bladder that exhibits spindle cell sarcomatoid features." "" + "glossopharyngeal motor neuropathy" "Diseases of the ninth cranial (glossopharyngeal) nerve or its nuclei in the medulla. The nerve may be injured by diseases affecting the lower brain stem, floor of the posterior fossa, jugular foramen, or the nerve's extracranial course. Clinical manifestations include loss of sensation from the pharynx, decreased salivation, and syncope. Glossopharyngeal neuralgia refers to a condition that features recurrent unilateral sharp pain in the tongue, angle of the jaw, external auditory meatus and throat that may be associated with syncope. Episodes may be triggered by cough, sneeze, swallowing, or pressure on the tragus of the ear. (Adams et al., Principles of Neurology, 6th ed, p1390)" "" + "asymmetric motor neuropathy" "" + "vulvar eccrine porocarcinoma" "An eccrine porocarcinoma that arises from the sweat glands in the vulva." "" + "eccrine porocarcinoma" "A carcinoma with eccrine differentiation arising from the sweat glands. It may arise de novo or as a malignant transformation of a pre-existing poroma. It usually grows in the legs, buttocks, feet, and trunk and usually presents as an ulcerative plaque. It is characterized by the presence of intraepidermal and dermal nests of malignant epithelial cells. It may recur after excision and metastasize to the lymph nodes and less frequently to distal anatomic sites." "" + "obsolete eccrine porocarcinoma" "" "true" + "vulvar clear cell hidradenocarcinoma" "A vulvar sweat gland carcinoma characterized by the presence of clear cells." "" + "hidradenocarcinoma" "A carcinoma with apocrine and less often eccrine differentiation, arising from the sweat glands. It usually presents as a solitary slow growing nodule in the dermis or subcutaneous tissues. It is characterized by a nodular growth pattern and it is often associated with necrotic changes." "" + "obsolete malignant cystic nephroma" "" "true" + "pancreatic intraductal papillary-mucinous carcinoma" "A malignant glandular neoplasm arising from the exocrine pancreas. Microscopically it is characterized by the presence of mucoid stroma formation, papillary patterns, and cystic changes. It has been associated with KRAS and Tp53 gene mutations." "" + "exocrine pancreatic carcinoma" "A carcinoma that arises from epithelial cells of the exocrine pancreas" "" + "pancreatic intraductal papillary-mucinous neoplasm" "A usually slow-growing epithelial neoplasm with ductal differentiation that arises from the exocrine pancreas and grows mostly within the pancreatic ducts. Grossly, it is characterized by the presence of intraductal masses. Morphologically, there is proliferation of mucin-producing cells within the pancreatic ducts, intraductal accumulation of mucin, and a papillary growth pattern. It may be associated with the presence of an invasive carcinoma. It usually occurs in older patients. Signs and symptoms include epigastric pain, weight loss, jaundice, chronic pancreatitis, and diabetes mellitus." "" + "pancreatic foamy gland adenocarcinoma" "A pancreatic ductal adenocarcinoma characterized by the presence of adenocarcinoma cells with foamy cytoplasm." "" + "scirrhous breast carcinoma" "An infiltrating ductal breast carcinoma associated with stromal fibrosis." "" + "glottis verrucous carcinoma" "An exophytic, slow growing, well differentiated and non-metastasizing squamous cell carcinoma with pushing margins that arises from the glottic area of the larynx. It usually presents with hoarseness." "" + "subglottis verrucous carcinoma" "An exophytic, slow growing, well differentiated and non-metastasizing squamous cell carcinoma with pushing margins that arises from the subglottic area of the larynx." "" + "subglottis squamous cell carcinoma" "A squamous cell carcinoma of the larynx that arises from the subglottic area. Symptoms include dyspnea and stridor. It spreads to the hypopharynx, trachea, and thyroid gland." "" + "subglottis carcinoma" "A carcinoma of the larynx that arises from the subglottic area." "" + "supraglottis verrucous carcinoma" "An exophytic, slow growing, well differentiated and non-metastasizing squamous cell carcinoma with pushing margins that arises from the supraglottic area of the larynx." "" + "supraglottis squamous cell carcinoma" "A squamous cell carcinoma of the larynx that arises from the supraglottic area. Signs and symptoms include dysphagia, a sensation of foreign body in the throat, and hemoptysis. It spreads to the space anterior to the epiglottis, pyriform sinus, and base of the tongue." "" + "carcinoma of supraglottis" "A carcinoma of the larynx that arises from the supraglottic area." "" + "gestational ovarian choriocarcinoma" "A rare malignant trophoblastic tumor that arises from the ovary as a result of ectopic ovarian pregnancy. There is no germ cell component present." "" + "gestational choriocarcinoma" "Gestational choriocarcinoma is a gestational trophoblastic tumor (GTT) occurring secondary to pregnancy (ectopic or normal), miscarriage, voluntary termination of pregnancy (VTP) or a hydatidiform mole." "" + "asbestos-related lung carcinoma" "A carcinoma arising in the lung due to exposure to asbestos." "" + "cervical lymphoepithelioma-like carcinoma" "A variant of cervical squamous cell carcinoma characterized by the presence of islands of cells with uniform, vesicular nuclei and prominent nucleoli and a dense lymphocytic infiltrate." "" + "lymphoepithelioma-like thymic carcinoma" "A rare, usually aggressive primary thymic carcinoma, characterized by a syncytial growth of undifferentiated carcinoma cells and the presence of a lymphoplasmacytic infiltrate. More than 40% of cases are associated with Epstein-Barr virus infection." "" + "infiltrating bladder lymphoepithelioma-like carcinoma" "" + "obsolete intracortical osteogenic sarcoma" "" "true" + "fibrosarcomatous osteosarcoma" "A conventional osteosarcoma characterized by the presence of spindle shaped cells." "" + "chief cell adenoma" "A parathyroid gland adenoma composed predominantly of neoplastic chief cells. These cells have either slightly eosinophilic or vacuolated cytoplasm, and round nuclei." "" + "parathyroid gland adenoma" "A benign tumor arising from the parenchymal cells of the parathyroid glands. In the vast majority of cases, the tumor involves a single parathyroid gland. It is associated with the symptoms of primary hyperparathyroidism, resulting from the excessive production of parathyroid hormone. It is usually surrounded by a well-defined capsule. Capsular invasion, vascular invasion, and perineural invasion are absent." "" + "parathyroid gland clear cell adenoma" "A parathyroid gland adenoma composed predominantly of neoplastic cells with clear cytoplasm." "" + "mixed cell type adenoma of parathyroid" "A parathyroid gland adenoma that contains a mixture of neoplastic cells (chief cells, oncocytes, and clear cells)." "" + "parathyroid oncocytic adenoma" "A parathyroid gland adenoma composed predominantly or entirely of neoplastic cells with abundant granular eosinophilic cytoplasm." "" + "childhood intracortical osteosarcoma" "A high grade malignant bone-forming mesenchymal neoplasm that produces osteoid and occurs in childhood. It arises from the medullary portion of the bone. It affects the long bones, and most commonly, the distal femur, proximal tibia, and proximal humerus. Pain with or without a palpable mass is the most common clinical presentation. It usually has an aggressive growth and may metastasize through the hematogenous route. The lung is the most frequent site of metastasis." "" + "sarcomatosis of the meninges" "A rare condition characterized by diffuse spread of sarcoma cells throughout the meninges. The neoplastic cells are derived from meningeal connective tissue. Clinically, this disorder may present as a fulminant pachymeningitis and/or encephalitis." "" + "sarcomatosis" "The occurrence of several sarcomas in different anatomic locations." "" + "meningeal sarcoma" "A rare sarcoma arising from the meninges." "" + "adult embryonal tumor with multilayered rosettes, c19mc-altered" "An embryonal tumor with multilayered rosettes, C19MC-altered, occurring in adults." "" + "carcinoma of Cowper glands" "A carcinoma that involves the bulbo-urethral gland." "" + "suprasellar meningioma" "A meningioma that affects the suprasellar region." "" + "gasserian ganglion meningioma" "A meningioma that affects the trigeminal ganglion." "" + "malignant cutaneous granular cell skin tumor" "" + "cholangiolocellular carcinoma" "An intrahepatic cholangiocarcinoma that arises from the canals of Hering." "" + "acantholytic squamous cell skin carcinoma" "A histologic variant of squamous cell carcinoma that arises from the skin. It is characterized by loosening of the intercellular bridges between the malignant cells which results in acantholysis." "" + "multiple spinal canal and spinal cord meningioma" "Multiple meningiomas that arises from the spinal meninges." "" + "pulmonary type ovarian small cell carcinoma" "An aggressive small cell neuroendocrine carcinoma that arises from the ovary. Morphologically, it resembles the small cell carcinoma that arises from the lung." "" + "hypercalcemic type ovarian small cell carcinoma" "An undifferentiated small cell carcinoma that arises from the ovary and is associated with hypercalcemia. Electron microscopic studies show neurosecretory granules are either absent or, when present, are in small numbers." "" + "adult infiltrating astrocytic neoplasm" "" + "endometrial mixed adenocarcinoma" "An adenocarcinoma that arises from the endometrium and is characterized by the presence of both type I and type II endometrial adenocarcinoma components. The minor component constitutes at least 5% of the entire tumor." "" + "non-gestational ovarian choriocarcinoma" "A malignant germ cell tumor that arises from the ovary and is composed of cytotrophoblasts, syncytiotrophoblasts, and extravillous trophoblasts. The prognosis is less favorable than gestational choriocarcinoma." "" + "muscular atrophy" "The loss of muscle tissue due to inactivity or disease." "" + "testicular fibroma" "A benign neoplasm that arises from the testis and is characterized by the presence of fusiform cells and collagenization." "" + "fibroma" "A non-metastasizing neoplasm arising from the fibrous tissue. It is characterized by the presence of spindle-shaped fibroblasts." "" + "testicular thecoma" "A rare benign tumor that arises from the testis and is characterized by the presence of lipid-rich neoplastic spindle cells." "" + "thecoma" "An ovarian or testicular stromal tumor characterized by the presence of lipid-rich neoplastic spindle cells. In females, uterine bleeding is the most common symptom. A minority of post-menopausal women with thecoma have an associated endometrial adenocarcinoma or rarely a malignant mixed mullerian tumor or endometrial stromal sarcoma. Rare cases with nuclear atypia and mitotic activity may metastasize. In males, thecomas are rare and they usually present as slow growing, sometimes painful masses. Metastases have not been reported." "" + "sphenoid sinus inverted papilloma" "A benign neoplasm that arises from the ciliated respiratory mucosa that lines the sphenoid sinus. It results from the invagination and proliferation of epithelial cells in the underlying stroma." "" + "sphenoid sinus Schneiderian papilloma" "A papilloma that arises from the ciliated respiratory mucosa that lines the sphenoid sinus. It is classified as inverted papilloma and oncocytic papilloma." "" + "benign neoplasm of sphenoidal sinus" "A non-metastasizing neoplasm that arises from the sphenoid sinus." "" + "maxillary sinus adenocarcinoma" "An adenocarcinoma that arises from the maxillary sinus. It is classified as intestinal-type or non-intestinal-type adenocarcinoma. Nasal obstruction and epistaxis are the presenting signs." "" + "pancreatic intraductal papillary-mucinous neoplasm with high grade dysplasia" "A non-invasive pancreatic intraductal papillary mucinous neoplasm characterized by the presence of neoplastic epithelial cells that exhibit loss of polarity, nuclear stratification, hyperchromasia, and pleomorphism. There is severe architectural atypia and frequent mitotic figures present." "" + "leptomeningeal sarcoma" "A sarcoma arising from the leptomeninges." "" + "bladder urachal adenocarcinoma" "A adenocarcinoma that involves the urachus." "" + "lung hilum cancer" "A malignant neoplasm involving the lung hilus." "" + "pancreatic ACTH-producing neuroendocrine tumor" "A malignant, ectopic ACTH secreting pancreatic neuroendocrine tumor, associated with Cushing's syndrome. The prognosis is usually poor." "" + "functional pancreatic neuroendocrine tumor" "A low or intermediate grade well differentiated tumor with neuroendocrine differentiation that arises from the pancreas. It is characterized by the presence of a clinical syndrome that results from hormone hypersecretion." "" + "Cushing syndrome" "Cushing's syndrome (CS) encompasses a group of hormonal disorders caused by prolonged and high exposure levels to glucocorticoids that can be of either endogenous (adrenal cortex production) or exogenous (iatrogenic) origin." "" + "non-functional pancreatic neuroendocrine tumor" "A low or intermediate grade well differentiated tumor with neuroendocrine differentiation that arises from the pancreas. It is characterized by the absence of a hormone-related clinical syndrome." "" + "rectal signet ring cell adenocarcinoma" "An infiltrating adenocarcinoma arising from the rectum. It is characterized by the presence of malignant glandular cells with prominent intracytoplasmic mucin. These cells constitute more than 50% of the malignant cellular population." "" + "perianal skin Paget disease" "Paget disease involving the perianal skin." "" + "retinal cell cancer" "" + "retinal cell neoplasm" "A neoplasm arising from the neural retina. This category includes retinoblastoma and retinocytoma." "" + "tuberculum sellae meningioma" "A meningioma that affects the tuberculum sellae." "" + "mixed ductal-endocrine carcinoma of pancreas" "A carcinoma that arises from the pancreas showing a mixture of ductal and neuroendocrine malignant cells in both the primary tumor and in the metastatic sites." "" + "colloid carcinoma of the pancreas" "An infiltrating pancreatic ductal adenocarcinoma, characterized by the presence of malignant cells floating in pools of mucin. It has a more favorable prognosis than the conventional infiltrating ductal adenocarcinoma. It often arises in association with intraductal pancreatic mucinous neoplasms and in some cases it may result in the development of pseudomyxoma peritonei." "" + "obsolete osteoclast-like giant cell neoplasm of the pancreas" "" "true" + "pancreatic acinar cell cystadenocarcinoma" "A cystic adenocarcinoma characterized by the presence of relatively uniform neoplastic cells which produce pancreatic enzymes and are arranged in acinar patterns. Signs and symptoms include abdominal pain, weight loss, nausea, and diarrhea. It usually has an aggressive clinical course." "" + "pancreatic acinar cell carcinoma" "An adenocarcinoma arising from the pancreas. It is characterized by the presence of relatively uniform malignant cells which form acinar patterns. It usually occurs during adulthood. Signs and symptoms include abdominal pain, weight loss, nausea, and diarrhea. It may metastasize to regional lymph nodes and the liver. A minority of patients develop lipase hypersecretion syndrome. This syndrome may be seen in patients with liver metastases and it is characterized by excessive secretion of lipase in the serum, polyarthralgia, and subcutaneous fat necrosis." "" + "childhood malignant hemangiopericytoma" "A malignant hemangiopericytoma occurring in childhood." "" + "childhood malignant schwannoma" "A malignant peripheral nerve sheath tumor occurring in children." "" + "signet ring cell intrahepatic cholangiocarcinoma" "An intrahepatic cholangiocarcinoma characterized by the presence of signet ring adenocarcinoma cells." "" + "" "true" + "pancreatic mucinous cystadenoma" "A non-metastasizing cystic epithelial neoplasm arising from the exocrine pancreas. It is composed of columnar, mucin-producing epithelial cells. It occurs almost exclusively in women. Large tumors are often accompanied by a palpable abdominal mass." "" + "retinal telangiectasia" "" + "retina lymphoma" "A lymphoma that involves the retina." "" + "pediatric extraocular retinoblastoma" "Retinoblastoma during childhood that has spread beyond the eye." "" + "intraocular lymphoma" "A lymphoma that arises within the eye. Signs and symptoms include decreased vision, uveitis, and vitreous floaters." "" + "adult brain ependymoma" "An ependymoma of the brain occurring in adults." "" + "extrahepatic biliary papillomatosis" "A non-invasive, papillary epithelial neoplasm that arises from the epithelium of the extrahepatic bile ducts." "" + "neonatal leukemia" "Leukemia that occurs during the neonatal period." "" + "childhood multilocular cystic kidney neoplasm" "A cystic neoplasm which arises from the kidney and occurs in children. It includes the cystic partially differentiated nephroblastoma and cases in which nephroblastomatous elements are not present." "" + "breast extraskeletal osteosarcoma" "An osteosarcoma arising from the breast tissue." "" + "adult spinal cord ependymoma" "An ependymoma of the spinal cord occurring in adults." "" + "obsolete placenta disease" "" "true" + "adult spinal cord glioblastoma" "A rare spinal tumor which is highly malignant and tends to be locally invasive of surrounding neural tissue. The tumor also tends to spread throughout the neuroaxis and is often rapidly progressive. Histologically the tumors are highly cellular with nuclear and cellular pleomorphism, endothelial proliferation, mitotic figures, and, often, necrosis. This tumor has a relatively poor prognosis. Clinical features may include pain followed by rapidly progressive neurologic deficits such as extremity weakness, sensory changes, spasticity, and incontinence. (From Innocenzi et al., Clin Neurol Neurosurg 1997 Feb;99(1):1-5)" "" + "adult glioblastoma" "" + "choroid necrotic melanoma" "" + "necrotic uveal melanoma" "A uveal melanoma characterized by the presence of tumor cell necrosis." "" + "mixed astrocytoma-ependymoma-oligodendroglioma" "A mixed glioma characterized by the presence of astrocytic, ependymal, and oligodendroglial neoplastic components." "" + "petroclival meningioma" "A meningioma that affects the petroclival region." "" + "sphenoorbital meningioma" "A meningioma that affects the sphenoorbital region." "" + "renal infectious disease" "" + "sphenocavernous meningioma" "A meningioma that affects the sphenocavernous region." "" + "spinal multifocal clear cell meningioma" "A clear cell meningioma arising in multiple areas of the spinal cord characterized by the presence of clear glycogen-rich polygonal cells." "" + "chronic toxic polyneuropathy" "" + "adult papillary meningioma" "A papillary meningioma occurring in adults." "" + "adult extraskeletal osteosarcoma" "An osteosarcoma arising from the soft tissue, and occurring in adults." "" + "end stage renal failure" "Long-standing and persistent renal disease with glomerular filtration rate (GFR) less than 15 ml/min." "" + "infiltrating nipple syringomatous adenoma" "An invasive, non-metastasizing neoplasm with sweat duct differentiation that arises in the area of the nipple. Local recurrences have been reported." "" + "pancreatic non-functioning delta cell tumor" "A usually malignant neuroendocrine tumor arising from the delta cells of the pancreas. It is not associated with a hormonal syndrome." "" + "pediatric cerebral ependymoblastoma" "An embryonal tumor with multilayered rosettes, C19MC-altered that arises from the cerebral hemispheres and occurs in children." "" + "dendritic cell sarcoma" "A sarcoma that involves the dendritic cell." "" + "histiocytic and dendritic cell neoplasm" "Rare tumors that affect the hematopoietic and lymphoid tissues. The cells of origin are the histiocytes and accessory cells. They can occur at any age and show no significant variations in geographical distribution. This category includes the histiocytic sarcoma, Langerhans cell histiocytosis, Langerhans cell sarcoma, interdigitading dendritic cell sarcoma/tumor, follicular dendritic cell sarcoma/tumor, and dendritic cell sarcoma, not otherwise specified. (WHO, 2001)" "" + "pancreatic intraductal papillary-mucinous neoplasm with low grade dysplasia" "A non-invasive pancreatic intraductal papillary mucinous neoplasm characterized by the presence of neoplastic epithelial cells that form a single layer and are well polarized. The neoplastic cells exhibit small and uniform nuclei, mild pleomorphism, and rare mitotic figures." "" + "adult central nervous system germinoma" "A central nervous system germinoma that occurs in an adult." "" + "maxillary sinus inverted papilloma" "A benign neoplasm that arises from the ciliated respiratory mucosa that lines the maxillary sinus. It results from the invagination and proliferation of epithelial cells in the underlying stroma." "" + "maxillary sinus Schneiderian papilloma" "A papilloma that arises from the ciliated respiratory mucosa that lines the maxillary sinus. It is classified as inverted papilloma and oncocytic papilloma." "" + "adult xanthogranuloma" "A xanthogranuloma that occurs in an adult." "" + "xanthogranuloma" "" + "uterine corpus atypical polypoid adenomyoma" "An adenomyoma that arises from the uterine corpus and is characterized by the presence of marked glandular architectural complexity. It may recur following excision." "" + "luteoma of pregnancy" "A non-neoplastic and self-limited condition that occurs during pregnancy. It is characterized by proliferation of luteinized stromal cells that replace the normal ovarian stromal cells. It is usually manifested with bilateral multinodular ovarian masses. Treatment is not required." "" + "obsolete testicular spermatocytic seminoma" "" "true" + "mite infestation" "Infestations with arthropods of the subclass acari, superorder Acariformes." "" + "obsolete adult extraosseous chondrosarcoma" "A extraosseous chondrosarcoma that occurs in an adult." "" "true" + "intracranial extraskeletal myxoid chondrosarcoma" "An extraskeletal myxoid chondrosarcoma arising from the structures within the cranium." "" + "extraskeletal myxoid chondrosarcoma" "A rare malignant soft tissue neoplasm of uncertain differentiation, characterized by the presence of chondroblast-like cells in a myxoid stroma and a multinodular growth pattern. The most common sites of involvement are the deep soft tissues of the extremities, particularly the thigh. It usually presents as an enlarging soft tissue mass. Patients may have long survivals, but local recurrences and metastases occur in approximately half of the cases. The most common site of metastasis is the lungs." "" + "mixed astrocytoma-ependymoma" "A tumor of mixed cell type with astrocytic components as well as ependymoma components." "" + "maxillary sinus squamous cell carcinoma" "A squamous cell carcinoma that arises from the mucosal epithelial surface of the maxillary sinus. Patients may present with nasal fullness, obstruction, and/or epistaxis." "" + "obsolete mixed oligodendroglioma-astrocytoma" "" "true" + "cervical spinal canal and spinal cord meningioma" "A meningioma that arises from the meninges of the cervical region of the spinal cord." "" + "benign mediastinal psammomatous neurilemmoma" "A schwannoma that arises from the posterior mediastinum. It is characterized by the presence of psammoma bodies." "" + "mediastinal schwannoma" "A schwannoma that arises from the posterior mediastinum. It is the most common neurogenic tumor of the mediastinum. Excision is usually curative." "" + "obsolete epithelial malignant thymoma" "" "true" + "malignant type A thymoma" "A type A thymoma which is characterized by an aggressive clinical course (capsular invasion, infiltration of the surrounding tissues) and can metastasize." "" + "testis refractory cancer" "Malignant testicular germ cell tumor that is resistant to treatment." "" + "refractory malignant neoplasm" "A malignant neoplasm that does not respond to treatment." "" + "testicular yolk sac tumor, glandular-alveolar pattern" "A yolk sac tumor that arises from the testis and is characterized by the presence of gland-like spaces, irregular alveoli, and tubular structures." "" + "refractory precursor T-lymphoblastic lymphoma/leukemia" "T-lymphoblastic leukemia/lymphoma resistant to treatment" "" + "Barrett adenocarcinoma" "An adenocarcinoma arising from Barrett metaplastic epithelium in the esophagus. There is evidence supporting the idea that the Barrett adenocarcinomas develop through a stepwise progression through intestinal metaplastic epithelium to epithelial dysplasia to malignancy. Adenocarcinomas arising in the setting of Barrett esophagus are typically papillary and/or tubular. In terms of grading, they are well or moderately differentiated adenocarcinomas. -- 2002" "" + "adult central nervous system mixed germ cell tumor" "A mixed germ cell tumor of central nervous system that occurs in an adult." "" + "stroma-dominant and stroma-poor composite ganglioneuroblastoma" "A neuroblastic tumor characterized by the presence of a ganglioneuroblastoma component and the formation of Schwannian stroma which is the predominant component of the tumor volume." "" + "schwannian stroma-rich and stroma-poor composite ganglioneuroblastoma" "A neuroblastic tumor characterized by the presence of a ganglioneuroblastoma component and the formation of Schwannian stroma which constitutes more than fifty-percent of the tumor volume." "" + "nipple duct carcinoma" "A carcinoma that develops in the ducts of the nipple." "" + "sarcomatoid penile squamous cell carcinoma" "A squamous cell carcinoma that arises from the penis and is characterized by the presence of malignant spindle-shaped cells." "" + "duodenal gastrin-producing neuroendocrine tumor" "A gastrin-producing neuroendocrine tumor that arises from the duodenum. It is characterized by the presence of uniform cells that form pseudorosettes. The neoplastic cells have uniform nuclei and small amount of eosinophilic cytoplasm." "" + "malignant spiradenoma" "A very rare, aggressive carcinoma of the sweat glands arising from malignant transformation of a long standing spiradenoma. It usually grows in the upper extremities, lower extremities, trunk, and head and neck. It has the tendency to recur and metastasize most often to the lymph nodes, bones, and lungs." "" + "cervical non-keratinizing squamous cell carcinoma" "A variant of cervical squamous cell carcinoma characterized by the presence of polygonal squamous cells. Intercellular bridges and cytoplasmic keratinization may be present, but keratin pearls are absent." "" + "tamoxifen-related endometrial lesion" "A spectrum of endometrial abnormalities that occur in women who use tamoxifen to treat or prevent the development of breast cancer. These abnormalities include endometrial polyps, endometrial hyperplasia, and endometrial carcinoma." "" + "lipid-cell variant infiltrating bladder urothelial carcinoma" "" + "plasmacytoid variant infiltrating bladder urothelial carcinoma" "" + "nested variant infiltrating bladder urothelial carcinoma" "" + "microcystic variant infiltrating bladder urothelial carcinoma" "" + "lymphoma-like variant infiltrating bladder urothelial carcinoma" "" + "breast malignant eccrine spiradenoma" "A rare tumor characterized by malignant transformation of an eccrine spiradenoma of the breast." "" + "sclerosing breast papilloma" "A breast papilloma characterized by the presence of predominant sclerosing architectural features." "" + "cerebral falx meningioma" "A meningioma that affects the falx cerebri." "" + "central nervous system extraskeletal osteosarcoma" "An osteosarcoma arising from the brain or spinal cord." "" + "obsolete familial glomangioma" "" "true" + "frontal convexity meningioma" "A meningioma that affects the frontal sulcus." "" + "alveoli adenoma" "A benign, well circumscribed lung neoplasm morphologically characterized by the presence of cystic spaces resembling alveoli, lined by a simple cuboidal epithelium. The cystic spaces are surrounded by a spindle cell stroma which may show myxoid changes. It is a solitary, usually peripheral lung lesion. Patients are usually asymptomatic and its discovery is an incidental finding during chest X-ray examination. Surgical excision is curative." "" + "skin meningioma" "A meningioma (disease) that involves the zone of skin." "" + "penis mixed squamous cell carcinoma" "A squamous cell carcinoma that arises from the penis and is characterized by a mixture of morphologic patterns (e.g., high grade squamous cell carcinoma and verrucous carcinoma or warty-basaloid carcinoma)." "" + "hemarthrosis" "Bleeding into the joints. It may arise from trauma or spontaneously in patients with hemophilia." "" + "mature pericardial teratoma" "A benign teratoma that arises from the pericardium." "" + "obsolete glomangiomyoma" "" "true" + "liver fibrosarcoma" "A usually aggressive malignant neoplasm arising from the liver. It is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation in a herringbone growth pattern." "" + "ovarian myxoid liposarcoma" "A liposarcoma that arises from the ovary and is composed of round to oval mesenchymal cells, small signet ring lipoblasts, and a rich network of capillaries in a myxoid stroma." "" + "obsolete gastric signet ring cell adenocarcinoma" "" "true" + "sporadic breast cancer" "A carcinoma that arises from the breast and is not caused by inherited genetic mutations." "" + "periocular meningioma" "A meningioma that affects the periocular region." "" + "pineal region meningioma" "A meningioma that affects the pineal gland." "" + "childhood ovarian embryonal carcinoma" "An embryonal carcinoma that arises from the ovary and occurs in children." "" + "testis polyembryoma" "A rare malignant germ cell tumor that arises from the testis and is characterized by the presence of embryoid bodies." "" + "chest wall parachordoma" "A parachordoma arising from the chest wall." "" + "parachordoma" "A rare, usually benign myoepithelial tumor characterized by the presence of epithelioid, often vacuolated neoplastic cells. Most patients present with painless swelling in the subcutaneous or subfascial soft tissues of the extremities." "" + "neoplasm of chest wall" "A neoplasm (disease) that involves the chest wall." "" + "bladder tubulo-cystic clear cell adenocarcinoma" "A rare morphologic variant of bladder carcinoma characterized by the presence of malignant glandular epithelial cells and clear cells forming a tubulo-cystic pattern." "" + "bladder papillary clear cell adenocarcinoma" "A rare morphologic variant of bladder adenocarcinoma characterized by the presence of malignant glandular epithelial cells and clear cells forming a papillary pattern." "" + "olfactory groove meningioma" "A meningioma that affects the olfactory sulcus." "" + "pituitary stalk meningioma" "A meningioma that affects the pituitary stalk." "" + "frontal sinus inverted papilloma" "A benign neoplasm that arises from the ciliated respiratory mucosa that lines the frontal sinus. It results from the invagination and proliferation of epithelial cells in the underlying stroma." "" + "intraductal breast myoepitheliosis" "A neoplastic process characterized by the proliferation of spindle to cuboidal myoepithelial cells within small breast ducts." "" + "carotid artery occlusion" "A occlusion precerebral artery that involves the carotid artery segment." "" + "sarcomatous intrahepatic cholangiocarcinoma" "A rare, aggressive variant of intrahepatic cholangiocarcinoma. It is characterized by the presence of adenocarcinoma cells that are intermingled with malignant pleomorphic spindle cells." "" + "testicular yolk sac tumor, myxomatous pattern" "A yolk sac tumor that arises from the testis and is characterized by the presence of myxomatous tissue that contains collections of malignant cells with prominent nucleoli." "" + "cellular congenital mesoblastic nephroma" "A congenital mesoblastic nephroma characterized by increased cellularity, sheet-like proliferation of fibroblastic cells, and increased mitotic activity. Necrotic changes are commonly present." "" + "congenital mesoblastic nephroma" "A low grade childhood congenital malignant neoplasm arising from the kidney. It is characterized by the presence of fibroblastic cells. The majority of cases occur in the first year of life. Complete excision is usually associated with an excellent prognosis." "" + "classic congenital mesoblastic nephroma" "A congenital mesoblastic nephroma characterized by the presence of interlacing fascicles of fibroblastic cells, low mitotic activity, and collagen formation." "" + "cocaine abuse" "Disorders related or resulting from use of cocaine." "" + "benign neoplasm of maxillary sinus" "A benign neoplasm that involves the maxillary sinus." "" + "bladder mixed adenocarcinoma" "" + "bladder hepatoid adenocarcinoma" "A hepatoid adenocarcinoma that involves the urinary bladder." "" + "hepatoid adenocarcinoma" "An adenocarcinoma with morphologic characteristics similar to hepatocellular carcinoma, arising from an anatomic site other than the liver." "" + "thyroid gland fetal adenoma" "A thyroid gland adenoma composed of microfollicular structures." "" + "vaginal tubulovillous adenoma" "An adenoma that arises from the vagina and is characterized by a tubulovillous architectural pattern." "" + "tubulovillous adenoma" "An epithelial neoplasm morphologically characterized by the presence of a villous and a tubular architectural pattern. Most often it occurs in the large intestine, small intestine, and the stomach in which the neoplastic epithelial cells show dysplastic features." "" + "extrahepatic bile duct cystadenoma" "A mucinous cystic neoplasm that arises from the extrahepatic bile ducts." "" + "cellular phase chronic idiopathic myelofibrosis" "Primary myelofibrosis characterized by bone marrow hypercellularity and the presence of atypical megakaryocytes. There is no increase in the percentage of myeloblasts and no significant increase in reticulin or collagen fibrosis in the bone marrow." "" + "primary myelofibrosis" "Myelofibrosis with myeloid metaplasia is a myeloproliferative disease with annual incidence of approximately 1 case per 100,000 individuals and age at diagnosis around 60 (an increased prevalence is noted in Ashkenazi Jews). Clinical manifestations depend on the type of blood cell affected and may include anemia, pallor, splenomegaly, hypermetabolic state, petechiae, ecchymosis, bleeding, lymphadenopathy, hepatomegaly, portal hypertension." "" + "nephrogenic adenoma of the urethra" "A metaplastic lesion of the urothelium found in the urethra. It is characterized by the presence of aggregates of cuboidal or hobnail cells and represents a reaction of the urothelium to injury caused by instrumentation, surgery or calculi." "" + "periampullary adenocarcinoma" "An adenocarcinoma that arises from the periampullary region." "" + "neuronitis" "" + "mature gastric teratoma" "A benign teratoma that arises from the stomach." "" + "anal canal Paget disease" "Paget disease involving the squamous epithelium of the anal canal." "" + "pseudovascular skin squamous cell carcinoma" "" + "obsolete osteochondrosis" "" "true" + "bacterial arthritis" "The inflammation of one or more joints caused by a bacterial infection within the joint space. Symptoms include pain, stiffness, and decreased range of motion in the affected joint." "" + "infective arthritis" "The inflammation of one or more joints caused by any infectious pathogen within the joint space. Symptoms include pain, stiffness, and decreased range of motion in the affected joint." "" + "breast columnar cell mucinous carcinoma" "An invasive breast adenocarcinoma characterized by the presence of tall columnar neoplastic cells that contain intracytoplasmic mucin. Grossly, cystic changes are not identified." "" + "epiglottis cancer" "A malignant neoplasm that affects the epiglottis. The vast majority of cases are squamous cell carcinomas." "" + "hypopharyngeal carcinoma" "Carcinoma, predominantly squamous cell, arising from the epithelial cells of the hypopharynx." "" + "gallbladder lymphoma" "A lymphoma that arises from the gallbladder, with the bulk of the tumor located at this site." "" + "thymus clear cell carcinoma" "A rare, usually aggressive, primary thymic carcinoma, characterized by the presence of carcinoma cells with clear cytoplasm." "" + "obsolete thymus sarcomatoid carcinoma" "A rare, usually aggressive, primary thymic carcinoma, characterized by the presence of tumor cells morphologically resembling soft tissue sarcoma." "" "true" + "adrenal gland ganglioneuroblastoma" "A ganglioneuroblastoma arising from the adrenal gland." "" + "adrenal gland neuroblastoma" "A neuroblastoma arising from the adrenal gland." "" + "pregerminal center chronic lymphocytic leukemia/small lymphocytic lymphoma" "A recently recognized variant of chronic lymphocytic leukemia/small lymphocytic lymphoma (CLL/SLL) that lacks somatic hypermutations of the Immunoglobulin heavy chain (IGH) genes, implying pregerminal center B-cell origin. Microarray gene expression profiling studies have demonstrated the expression of ZAP-70 gene (Syk family tyrosine kinase) in this subset of CLL/CLL. Patients with this variant of CLL/SLL have an unfavorable prognosis compared to those with somatic hypermutations of the IGH genes, with a median survival of approximately 6-8 years." "" + "obsolete pancreatic invasive intraductal papillary-mucinous carcinoma" "" "true" + "pancreatic intraductal papillary-mucinous neoplasm with an associated invasive carcinoma" "A pancreatic intraductal papillary mucinous neoplasm characterized by the presence of a focal or multifocal invasive carcinomatous component. The invasive carcinoma is either colloid or ductal adenocarcinoma." "" + "fibroosseous pseudotumor of the digits" "A non-neoplastic soft tissue disorder characterized by the localized formation of reactive fibrous and bone tissues. It usually occurs in the subcutaneous tissue of the proximal phalanx. Less frequently, it involves the toe. It presents with swelling and pain of the affected area. The prognosis is excellent. However, incomplete excision may lead to the re-growth of the lesion." "" + "thyroid gland oncocytic adenoma" "A thyroid gland adenoma composed of large cells with abundant granular eosinophilic cytoplasm and large nuclei with prominent nucleoli." "" + "gallbladder melanoma" "A melanoma that arises from the gallbladder." "" + "familial melanoma" "Familial melanoma (FM) is a rare inherited form of melanoma characterized by development of histologically confirmed melanoma in two first degrees relatives or more relatives in an affected family." "" + "gallbladder neuroendocrine neoplasm" "A neoplasm with neuroendocrine differentiation that arises from the gallbladder. It includes well differentiated neuroendocrine tumors (low and intermediate grade) and poorly differentiated neuroendocrine carcinomas (high grade)." "" + "interstitial myocarditis" "Inflammation of the heart characterized by infiltration of the interstitial tissues by inflammatory cells, histiocytes, and the formation of granulomas. Giant cells are often present." "" + "mediastinitis" "An inflammatory process affecting the mediastinum." "" + "endocervical type cervical adenomyoma" "An adenomyoma that arises from the cervix and is characterized by the presence of endocervical mucinous glands and a smooth muscle cell component. There is no atypia or significant mitotic activity present." "" + "endometrial type cervical adenomyoma" "An adenomyoma that arises from the cervix and is characterized by the presence of endometrial type glands and endometrial stroma, surrounded by smooth muscle. There is no evidence of atypia." "" + "cervical atypical polypoid adenomyoma" "An adenomyoma that arises from the cervix and is characterized by the presence of a glandular component exhibiting architectural complexity." "" + "fallopian tube gestational choriocarcinoma" "A malignant trophoblastic tumor that arises from the fallopian tube during pregnancy." "" + "gestational uterine corpus choriocarcinoma" "A gestational choriocarcinoma that involves the body of uterus." "" + "uterine corpus choriocarcinoma" "An aggressive malignant tumor arising from trophoblastic cells in the uterus during pregnancy. Approximately half of the cases develop from a complete hydatidiform mole. There is often marked elevation of human chorionic gonadotropin (hCG) in the blood. Choriocarcinomas disseminate rapidly through the hematogenous route; the lungs are most frequently affected." "" + "malignant germ cell tumor of corpus uteri" "A malignant germ cell tumor that involves the body of uterus." "" + "mediastinal disease" "A non-neoplastic or neoplastic disorder that affects the structures of the mediastinum. Representative examples include mediastinitis, mediastinal lipoma, mediastinal schwannoma, thymoma, and mediastinal lymphoma." "" + "testicular yolk sac tumor, papillary pattern" "A yolk sac tumor that arises from the testis and is characterized by the presence of numerous papillary structures that are lined by cells with prominent nucleoli." "" + "testicular yolk sac tumor, hepatoid pattern" "A yolk sac tumor that arises from the testis and is characterized by the presence of hepatoid cells collections." "" + "myotonic cataract" "A cataract occurring as a sequela of myotonic dystrophy." "" + "myotonic dystrophy" "An inherited progressive disorder affecting the muscles. It is characterized by muscle wasting and hypotonia, cataracts, heart conduction defects and endocrinopathies." "" + "syndromic cataract" "A cataract (disease) that is part of a larger syndrome." "" + "inflammation of heart layer" "An inflammatory disease involving a pathogenic inflammatory response in the heart layer." "" + "myocardial disorder" "A disorder that affects the muscle tissue of the heart. Representative examples include myocardial infarction, myocarditis, and cardiomyopathy." "" + "sacral spinal canal and spinal cord meningioma" "A meningioma that arises from the meninges of the sacral region of the spinal cord." "" + "lung hilum carcinoma" "A lung carcinoma arising from the hilum of the lung." "" + "lung superior sulcus carcinoma" "A carcinoma originating from the apical lung. Most superior sulcus lung carcinomas are bronchogenic carcinomas. This carcinoma may be associated with Pancoast syndrome. lt is also known as Pancoast tumor." "" + "malignant superior sulcus neoplasm" "A malignant neoplasm originating from the apical lung. Most malignant superior sulcus neoplasms are bronchogenic carcinomas. This tumor may be associated with Pancoast syndrome. It is also known as Pancoast tumor." "" + "fallopian tube cystadenofibroma" "A rare, benign, asymptomatic neoplasm that arises from the fallopian tube. The tumors are round and solitary and contain connective tissue and cystic structures lined by serous-type epithelium. The majority of cases are incidental findings during operation for an unrelated gynecologic disorder." "" + "parapharyngeal meningioma" "" + "upper clivus meningioma" "A meningioma that affects the upper clivus." "" + "penile urethral cancer" "A urethra cancer that involves the penis." "" + "central breast papilloma" "A benign papillary neoplasm that arises in a large duct of the breast. It is characterized by the presence of a fibrovascular core that is lined by benign epithelial and myoepithelial proliferations. Patients usually present with nipple discharge." "" + "microscopic breast papilloma" "A benign papillary neoplasm that arises in a terminal ductal lobular unit. It is characterized by the presence of a fibrovascular core that is lined by benign epithelial and myoepithelial proliferations. Peripheral breast papillomas are often multiple and are usually found microscopically. Patients are often asymptomatic." "" + "atypical breast papilloma" "An intraductal papilloma of the breast characterized by the presence of focal epithelial atypia." "" + "intrahepatic biliary papillomatosis" "A non-invasive, papillary epithelial neoplasm that arises from the epithelium of the intrahepatic bile ducts." "" + "inflammatory liposarcoma" "A rare morphologic variant of well differentiated liposarcoma occurring most often in the retroperitoneum. It is characterized by the presence of a predominant inflammatory infiltrate composed of lymphoplasmacytic aggregates." "" + "lower clivus meningioma" "A meningioma that affects the lower clivus." "" + "meningeal melanomatosis" "A meningeal melanoma with secondary diffuse meningeal spread. (WHO)" "" + "adult pleomorphic rhabdomyosarcoma" "An aggressive rhabdomyosarcoma occurring in adults. The neoplasm is characterized by the presence of bizarre round, spindle, and polygonal cells. Clinical presentation includes a rapidly enlarging painful mass usually in the lower extremities." "" + "chronic rhinitis" "Chronic inflammation of the nasal cavity mucosa. It may lead to post-nasal drip resulting in chronic sore throat and chronic cough." "" + "obsolete olfactory neural tumor" "" "true" + "bulbomembranous urethral cancer" "" + "ureter tuberculosis" "A tuberculosis that involves the ureter." "" + "anterior urethra cancer" "A malignant neoplasm that affects the portion of the urethra that is close to the outside of the body." "" + "synovial angioma" "A rare hemangioma arising from synovium lining surfaces." "" + "intratubular embryonal carcinoma" "Stage 0 includes: pTis, N0, M0, S0. pTis: Intratubular germ cell neoplasia (carcinoma in situ). N0: regional lymph node metastasis. M0: No distant metastasis. S0: Marker study levels within normal limits. (AJCC 6th and 7th eds.)" "" + "adult epithelioid sarcoma" "An epithelioid sarcoma occurring in adults." "" + "clear cell squamous cell skin carcinoma" "A squamous cell carcinoma of the skin with a prominent clear cell component." "" + "thyroid gland atypical follicular adenoma" "A thyroid gland adenoma with increased cellularity and nuclear atypia. There is no capsular or vascular invasion. The clinical course is benign." "" + "corpus uteri neoplasm" "A neoplasm (disease) that involves the body of uterus." "" + "congenital granular cell tumor" "An instance of granular cell tumor that is present from birth." "" + "lymph node palisaded myofibroblastoma" "A myofibroblastoma arising from the inguinal lymph nodes. It is characterized by the presence of nuclear palisading." "" + "non-ossifying fibromyxoid tumor" "A rare soft tissue tumor of uncertain lineage characterized by the presence of neoplastic spindle to round cells forming cords in a fibromyxoid stroma. Metaplastic bone formation is not present." "" + "fibromyxoid tumor" "A soft tissue tumor of uncertain lineage characterized by the presence of neoplastic spindle-shaped to round cells in a fibromyxoid stroma. Metaplastic bone formation may or may not be present." "" + "ossifying fibromyxoid tumor" "A rare soft tissue tumor of uncertain lineage characterized by the presence of neoplastic spindle to round cells forming cords in a fibromyxoid stroma. The lesions are associated with the formation of metaplastic bone. Most patients present with painless subcutaneous masses. Recurrences have been reported in a minority of patients." "" + "early invasive cervical adenocarcinoma" "A cervical adenocarcinoma with minimal stromal invasion. The risk of local lymph node metastasis is insignificant and the prognosis is excellent." "" + "sclerosing adenosis of breast" "Breast adenosis characterized by the proliferation of acini, a lobulated architectural pattern, and stromal sclerosis. The luminal epithelial and myopepithelial cells are preserved. Microcalcifications and foci of apocrine metaplasia may be present." "" + "perineural angioma" "A hemangioma arising from perineural tissues." "" + "microglandular adenosis of breast" "A rare variant of breast adenosis characterized by the proliferation of small round glands in a collagenous stroma. The epithelial cells are cuboidal and there are no myopepithelial cells present. There is no evidence of atypia." "" + "childhood choriocarcinoma of the ovary" "A non-gestational choriocarcinoma that arises from the ovary and occurs in children." "" + "obsolete villoglandular variant cervical mucinous adenocarcinoma" "" "true" + "intestinal variant cervical mucinous adenocarcinoma" "A cervical mucinous adenocarcinoma that resembles the large intestinal adenocarcinoma." "" + "intestinal type adenocarcinoma" "An adenocarcinoma arising from epithelium which has undergone intestinal metaplasia. Representative examples include gastric, gallbladder, and ampulla of Vater intestinal type adenocarcinomas." "" + "endocervical type cervical mucinous adenocarcinoma" "A cervical mucinous adenocarcinoma characterized by the presence of malignant glandular cells that resemble those of the endocervix." "" + "epithelioid malignant peripheral nerve sheath tumor" "A rare variant of malignant peripheral nerve sheath tumor composed predominantly or exclusively of epithelioid cells." "" + "pseudoglandular variant testicular seminoma" "A morphologic variant of testicular seminoma characterized by the presence of seminoma cells arranged in pseudoglandular patterns and few lymphocytes." "" + "cervical adenosquamous carcinoma, glassy cell variant" "A poorly differentiated variant of adenosquamous carcinoma that arises from the cervix. It is characterized by the presence of large malignant cells with ground glass cytoplasm and stromal eosinophilic infiltrates." "" + "cervical adenosquamous carcinoma" "An uncommon carcinoma arising from the cervix. It is composed of malignant glandular epithelial cells and malignant squamous epithelial cells." "" + "enteric pattern testicular yolk sac tumor" "A yolk sac tumor that arises from the testis and is characterized by the presence of immature glands." "" + "chordoid meningioma" "A WHO grade II, usually recurring meningioma characterized by the predominance of tissues that are histologically similar to chordoma." "" + "grade II meningioma" "An atypical meningioma which may recur in approximately 29-40% of the cases. This category includes the atypical meningioma, chordoid meningioma, and clear cell meningioma." "" + "adult malignant schwannoma" "A malignant peripheral nerve sheath tumor occurring during adulthood." "" + "lumbar plexus neoplasm" "A neoplasm (disease) that involves the lumbar nerve plexus." "" + "reticular pattern testicular yolk sac tumor" "A yolk sac tumor that arises from the testis and is characterized by the presence of a meshwork of small vacuolated cells resulting in a honeycomb appearance." "" + "adult type testicular granulosa cell tumor" "A rare sex cord-stromal tumor that arises from the testis in adults. Gynecomastia is present in approximately a quarter of the patients. Several morphologic patterns have been identified and include insular, gyriform, trabecular, pseudosarcomatous, and solid. Metastases occur in approximately twenty percent of the cases." "" + "cork-handlers' disease" "An extrinsic allergic alveolitis caused by inhalation of cork dust containing the antigens produced by the fungus Penicillium glabrum. The symptoms include dyspnea, wheezing cough, fever and asthenia." "" + "malignant cornea melanoma" "A melanoma within the cornea of the eye." "" + "Meckel diverticulitis" "Inflammation of a congenital diverticulum of the lower intestine." "" + "enteritis" "Inflammation of the small intestine." "" + "microinvasive cervical squamous cell carcinoma" "A cervical squamous cell carcinoma with minimal stromal invasion. The risk of lymph node metastasis is low." "" + "childhood kidney angiomyolipoma" "An angiomyolipoma occurring in childhood." "" + "kidney angiomyolipoma" "An angiomyolipoma arising from the kidney." "" + "carcinoma arising in nasal papillomatosis" "A rare squamous cell carcinoma that either arises from or is associated with the presence of inverted papilloma in the nose." "" + "congenital fibrosarcoma" "A fibrosarcoma that occurs in infants. It shares identical morphologic features with adult fibrosarcoma but carries the t(12;15)(p13;q25) translocation that results in ETV6-NTRK3 gene fusion. It usually affects the superficial and deep soft tissues of the extremities. The prognosis is generally much more favorable than for adult fibrosarcoma, and it rarely metastasizes." "" + "thyroid gland macrofollicular adenoma" "A thyroid gland adenoma composed of large size follicles." "" + "malignant glandular tumor of peripheral nerve sheath" "A variant of malignant peripheral nerve sheath tumor characterized by the presence of glandular epithelium." "" + "follicular infundibulum tumor" "" + "retinal melanoma" "A melanoma affecting the retinal portion of the eye. --2003" "" + "breast apocrine carcinoma in situ" "A ductal breast carcinoma in situ, characterized by the presence of neoplastic epithelial cells with apocrine differentiation." "" + "physiological polycythemia" "Polycythemia that is not pathologic." "" + "thyroid malformation" "An anatomic abnormality of the thyroid gland." "" + "paralytic ileus" "An ileus caused by abdominal or pelvic surgery, infections, disorders that affect the muscles and nerves, and medications. Signs and symptoms include those of intestinal obstruction." "" + "brachial plexus neuropathy from injury" "" + "injury" "Damage inflicted on the body as the direct or indirect result of an external force, with or without disruption of structural continuity." "" + "intestinal volvulus" "Twisting of a loop of bowel that results in intestinal obstruction." "" + "intestinal impaction" "" + "cyclothymic disorder" "An affective disorder characterized by periods of depression and hypomania. These may be separated by periods of normal mood." "" + "ariboflavinosis" "A dietary deficiency of riboflavin causing a syndrome chiefly marked by cheilitis, angular stomatitis, glossitis associated with a purplish red or magenta-colored tongue that may show fissures, corneal vascularization, dyssebacia, and anemia. (Dorland, 27th ed)" "" + "pyridoxine deficiency anemia" "Deficiency of vitamin B6. It is usually caused by alcoholism, malabsorption, or as a side effect of medications. Signs and symptoms include stomatitis, glossitis, dermatitis, peripheral neuropathy, irritability, seizures, and anemia." "" + "vitamin B deficiency" "A condition due to deficiency in any member of the vitamin B complex. These B vitamins are water-soluble and must be obtained from the diet because they are easily lost in the urine. Unlike the lipid-soluble vitamins, they cannot be stored in the body fat." "" + "choline deficiency disease" "A condition produced by a deficiency of choline in animals. Choline is known as a lipotropic agent because it has been shown to promote the transport of excess fat from the liver under certain conditions in laboratory animals. Combined deficiency of choline (included in the B vitamin complex) and all other methyl group donors causes liver cirrhosis in some animals. Unlike compounds normally considered as vitamins, choline does not serve as a cofactor in enzymatic reactions. (From Saunders Dictionary & Encyclopedia of Laboratory Medicine and Technology, 1984)" "" + "obsolete pellagra" "" "true" + "flat retinoschisis" "" + "obsolete localized scleroderma" "" "true" + "rheumatic myocarditis" "Inflammation of the myocardium in acute rheumatic heart disease." "" + "rheumatoid arthritis" "A chronic, systemic autoimmune disorder characterized by inflammation in the synovial membranes and articular surfaces. It manifests primarily as a symmetric, erosive polyarthritis that spares the axial skeleton and is typically associated with the presence in the serum of rheumatoid factor." "" + "autoimmune myocarditis" "Autoimmune myocarditis is an autoimmune disease that affects the heart. The condition is characterized by inflammation of the heart muscle (myocardium). Some people with autoimmune myocarditis have no noticeable symptoms of the condition. When present, signs and symptoms may include chest pain, abnormal heartbeat, shortness of breath, fatigue, signs of infection (i.e. fever, headache, sore throat, diarrhea), and leg swelling. The exact underlying cause of the condition is currently unknown; however, autoimmune conditions, in general, occur when the immune system mistakenly attacks healthy tissue. Treatment is based on the signs and symptoms present in each person. In some cases, medications that suppress the immune system may be recommended." "" + "transient retinal arterial occlusion" "A partial, temporary occlusion of the retinal artery." "" + "maple bark strippers' lung" "" + "hypersensitivity pneumonitis" "Hypersensitivity pneumonitis (HP) is a pulmonary disease with symptoms of dyspnea and cough resulting from the inhalation of an antigen to which the subject has been previously sensitized." "" + "polyhydramnios" "An excess quantity of amniotic fluid in the amniotic sac as compared to normal values. Typically associated with an amniotic fluid index (AFI) of greater than or equal to 25 cm or a single maximum vertical pocket (MVP) of greater than 8 cm." "" + "placenta disease" "A disease involving the placenta." "" + "rheumatoid lung disease" "Rheumatoid lung disease is a group of lung problems related to rheumatoid arthritis." "" + "hereditary night blindness" "An instance of night blindness that is caused by an inherited modification of the individual's genome." "" + "obsolete hereditary retinal dystrophy" "" "true" + "obsolete fundus dystrophy" "" "true" + "impetigo herpetiformis" "An impetigo that is characterized as a form of severe pustular psoriasis occurring in pregnancy." "" + "staphylococcus aureus infection" "An infectious process in which the bacteria Staphylococcus aureus is present." "" + "Bartholin duct cyst" "Distension of the Bartholin gland duct caused by an accumulation of mucus in the duct, usually as a result of obstruction of the gland duct orifice." "" + "puerperal pulmonary embolism" "" + "pulmonary embolism" "The obstruction of the pulmonary artery or one of its branches by an embolus, sometimes associated with infarction of the lung." "" + "acute pulmonary heart disease" "" + "pulmonary embolism and infarction" "Localized necrosis of lung tissue caused by obstruction of the arterial blood supply, most often due to pulmonary embolism." "" + "acute cor pulmonale" "Acute form of cor pulmonale." "" + "barbiturate abuse" "A substance abuse that involves the recurring use of barbiturate drugs despite negative consequences." "" + "monocytic leukemia" "" + "ulcer of lower limbs" "Ulcer of lower limbs is a chronic ulcer of skin where the ulcer is not a decubitus ulcer." "" + "chronic ulcer of skin" "" + "obsolete polymyalgia rheumatica" "" "true" + "collagenopathy" "" + "Hodgkin's lymphoma, lymphocytic-histiocytic predominance" "A subtype of classical Hodgkin lymphoma with scattered Hodgkin and Reed-Sternberg cells and a nodular or less often diffuse cellular background consisting of small lymphocytes and with an absence of neutrophils and eosinophils. (WHO, 2008)" "" + "classic Hodgkin lymphoma" "Classical Hodgkin lymphoma (CHL) is a B-cell lymphoma characterized histologically by the presence of large mononuclear Hodgkin cells and multinucleated Reed-Sternberg (HRS) cells." "" + "obsolete pyoderma gangrenosum" "" "true" + "vallecula cancer" "A cancer involving a epiglottic vallecula." "" + "oropharynx cancer" "A primary or metastatic malignant neoplasm that affects the oropharynx." "" + "neoplasm of oropharynx" "A neoplasm (disease) that involves the oropharynx." "" + "herpes simplex infectious disease" "A group of acute infections caused by herpes simplex virus type 1 or type 2 that is characterized by the development of one or more small fluid-filled vesicles with a raised erythematous base on the skin or mucous membrane. It occurs as a primary infection or recurs due to a reactivation of a latent infection. (Dorland, 27th ed.)" "" + "obsolete multiple carboxylase deficiency" "" "true" + "soft palate cancer" "A primary or metastatic malignant neoplasm that affects the soft palate." "" + "palatal neoplasm" "A benign or malignant neoplasm that affects the hard palate, soft palate, or uvula." "" + "oral cavity cancer" "A primary or metastatic malignant neoplasm involving the oral cavity. The majority are squamous cell carcinomas." "" + "malignant histiocytosis" "Distinctive neoplastic disorders of histiocytes. Included are malignant neoplasms of macrophages and dendritic cells." "" + "acute intestinal ischemia" "Ischemia of the intestine that is rapid in onset." "" + "ischemic bowel disease" "Disease of the large or small intestine that is caused by inadequate blood supply." "" + "chronic monocytic leukemia" "Form of leukemia characterized by an uncontrolled proliferation of the myeloid lineage and their precursors (myeloid progenitor cells) in the bone marrow and other sites." "" + "upper gum cancer" "A cancer involving a gingiva of upper jaw." "" + "gingival cancer" "A primary or metastatic malignant neoplasm that affects the gums." "" + "herpetic whitlow" "A painful blister of the periungual skin that is caused by herpes simplex virus type 1 or 2." "" + "paronychia" "An acute or chronic infection of the soft tissues around the nail. Symptoms include pain, tenderness, erythema, and swelling around the nail. Acute infection results from minor trauma to the fingertip and Staphylococcus aureus is usually the causative agent. Chronic infection is usually caused by Candida albicans." "" + "recurrent hypersomnia" "Disorders characterized by hypersomnolence during normal waking hours that may impair cognitive functioning. Subtypes include primary hypersomnia disorders (e.g., idiopathic hypersomnolence; narcolepsy; and kleine-levin syndrome) and secondary hypersomnia disorders where excessive somnolence can be attributed to a known cause (e.g., drug affect, mental disorders, and sleep apnea syndrome). (From J Neurol Sci 1998 Jan 8;153(2):192-202; Thorpy, Principles and Practice of Sleep Medicine, 2nd ed, p320)" "" + "diplegia of upper limb" "" + "measles" "A highly contagious viral infection caused by the measles virus. Symptoms appear 8-12 days after exposure and include a rash, cough, fever and muscle pains that can last 4-7 days. Measles vaccines are available to provide prophylaxis, usually combined with mumps and rubella vaccines (MMR)." "" + "morbillivirus infectious disease" "Infections with viruses of the genus morbillivirus, family paramyxoviridae. Infections mainly cause acute disease in their hosts, although in some cases infection is persistent and leads to degenerative conditions." "" + "Hodgkin's lymphoma, lymphocytic depletion" "A diffuse subtype of classical Hodgkin lymphoma which is rich in Hodgkin and Reed-Sternberg cells and/or depleted in non-neoplastic lymphocytes. (WHO, 2008)" "" + "upper lip cancer" "A malignant neoplasm involving the upper lip." "" + "lip cancer" "A primary or metastatic malignant neoplasm involving the lip." "" + "chronic intestinal vascular insufficiency" "" + "obsolete prostate carcinoma in situ" "" "true" + "uvula cancer" "A malignant neoplasm involving the palatine uvula." "" + "obsolete Hodgkin's paragranuloma" "" "true" + "gastroduodenitis" "" + "hemorrhagic duodenitis" "" + "subacute delirium" "" + "delirium" "A disorder characterized by confusion; inattentiveness; disorientation; illusions; hallucinations; agitation; and in some instances autonomic nervous system overactivity. It may result from toxic/metabolic conditions or structural brain lesions. (From Adams et al., Principles of Neurology, 6th ed, pp411-2)" "" + "tongue neoplasm" "A neoplasm (disease) that involves the tongue." "" + "obsolete Hodgkin's granuloma" "An obsolete term referring to Hodgkin lymphoma." "" "true" + "Hodgkins lymphoma" "Hodgkin lymphoma (HL) is a heterogeneous group of malignant lymphoid neoplasms of B-cell origin characterized histologically by the presence of Hodgkin and Reed-Sternberg (HRS) cells in the vast majority of cases. There are two distinct subtypes: nodular lymphocyte predominant Hodgkin lymphoma and classical Hodgkin lymphoma. Hodgkin lymphoma involves primarily lymph nodes." "" + "Hodgkin's lymphoma, mixed cellularity" "A subtype of classical Hodgkin lymphoma with scattered Reed-Sternberg and Hodgkin cells in a diffuse or vaguely nodular mixed inflammatory background without nodular sclerosing fibrosis. (WHO, 2008)" "" + "postcricoid region cancer" "A primary or metastatic malignant neoplasm that affects the postcricoid region." "" + "hypopharynx cancer" "A primary or metastatic malignant neoplasm that affects the hypopharynx." "" + "lip carcinoma in situ" "A in situ carcinoma that involves the lip." "" + "carcinoma of lip" "A carcinoma that involves the lip." "" + "aryepiglottic fold cancer" "A malignant neoplasm involving the aryepiglottic fold." "" + "lymphosarcoma" "An antiquated term that refers to a non-Hodgkin lymphoma composed of small and medium sized lymphocytes." "" + "perinatal necrotizing enterocolitis" "A fulminating disease of neonates in which there is extensive mucosal ulceration, pseudomembrane formation, submucosal hemorrhage, and necrosis usually of the right colon, cecum, terminal ileum, and appendix, possibly due to perinatal intestinal ischemia and bacterial invasion. Progression can lead to necrosis, perforation and/or scarring of the intestinal tract." "" + "necrotizing enterocolitis" "Necrotizing enterocolitis (NEC) is a devastating disease that affects mostly the intestine of premature infants. The wall of the intestine is invaded by bacteria, which cause local infection and inflammation that can ultimately destroy the wall of the bowel (intestine). Such bowel wall destruction can lead to perforation of the intestine and spillage of stool into the infant's abdomen, which can result in an overwhelming infection and death." "" + "alcoholic gastritis" "Inflammation of the stomach resulting from alcohol ingestion." "" + "skin carcinoma in situ" "A in situ carcinoma that involves the zone of skin." "" + "tonsillar pillar cancer" "A cancer that involves the tonsillar pillar." "" + "myeloid leukemia" "A clonal proliferation of myeloid cells and their precursors in the bone marrow, peripheral blood, and spleen. When the proliferating cells are immature myeloid cells and myeloblasts, it is called acute myeloid leukemia. When the proliferating myeloid cells are neutrophils, it is called chronic myelogenous leukemia." "" + "myeloproliferative neoplasm" "A clonal hematopoietic stem cell disorder, characterized by proliferation in the bone marrow of one or more of the myeloid (i.e., granulocytic, erythroid, megakaryocytic, and mast cell) lineages. It is primarily a neoplasm of adults. (WHO 2008)" "" + "subacute monocytic leukemia" "" + "cheek mucosa cancer" "A malignant neoplasm involving the buccal mucosa." "" + "buccal mucosa neoplasm" "A neoplasm (disease) that involves the buccal mucosa." "" + "decubitus ulcer" "Death of tissue due to external pressure." "" + "high grade malignant neoplasm" "" + "tumor grade 3, general grading system" "A morphologic qualifier indicating that a cancerous lesion is poorly differentiated." "" + "vascular dementia" "A degenerative vascular disorder affecting the brain. It is caused by the blockage of the blood supply to the brain. It is manifested with decline of memory and cognitive functions." "" + "anaerobic pneumonia" "A pneumonia caused by anaerobic bacteria." "" + "bacterial pneumonia" "Acute infection of the lung parenchyma caused by bacteria (e.g., Streptococcus pneumoniae, Haemophilus influenzae, Chlamydia pneumoniae, Mycoplasma pneumoniae, and Legionella pneumophila). Signs and symptoms include productive cough, fever, chills, shortness of breath, and chest pain." "" + "malignant carotid body paraganglioma" "A carotid body paraganglioma that metastasizes to other anatomic sites." "" + "carotid body paraganglioma" "A benign or malignant extra-adrenal parasympathetic paraganglioma arising from paraganglia adjacent to or in the bifurcation of the common carotid artery. Most patients present with a slow growing, painless mass in the neck." "" + "atypical chronic myeloid leukemia, BCR-ABL1 negative" "A myelodysplastic/myeloproliferative neoplasm characterized by the principal involvement of the neutrophil series with leukocytosis and multilineage dysplasia. The neoplastic cells do not have a Philadelphia chromosome or the BCR/ABL fusion gene. (WHO, 2001)" "" + "myelodysplastic/myeloproliferative Neoplasm" "A category of clonal hematopoietic disorders that have both myelodysplastic and myeloproliferative features at the time of initial presentation." "" + "obsolete pyomyositis" "" "true" + "obsolete acute megakaryoblastic leukemia" "" "true" + "rubella" "A viral infection caused by the rubella virus. It is initially manifested with flu-like symptoms that last one or two days, followed by the development of a characteristic red rash which lasts from one to five days. The rash first appears in the neck and face. It subsequently spreads to the rest of the body." "" + "disseminated chorioretinitis" "" + "eye carcinoma in situ" "A carcinoma in situ involving a eye." "" + "trachea carcinoma in situ" "A carcinoma that arises from the tracheal mucosa and is confined to the epithelial layer without evidence of further tissue invasion." "" + "squamous carcinoma in situ" "A malignant epithelial neoplasm confined to the squamous epithelium, without invasion of the underlying tissues." "" + "heterophyiasis" "An infection that is caused by the intestinal fluke Heterophyes heterophyes, which is most commonly found in Asia, the Middle East, and Africa, and which is transmitted via consumption of contaminated raw or undercooked fish. Symptoms typically range from asymptomatic to intermittent abdominal pain and diarrhea, with occasional ectopic infection." "" + "colon carcinoma in situ" "A in situ carcinoma that involves the colon." "" + "intestine carcinoma in situ" "A carcinoma in situ involving a intestine." "" + "nodular sclerosis classical Hodgkin lymphoma" "A subtype of classical Hodgkin lymphoma characterized by collagen bands that surround at least one nodule, and Hodgkin and Reed-Sternberg cells with lacunar type morphology. (WHO, 2008)" "" + "metagonimiasis" "An infection that is most commonly caused by the intestinal fluke Metagonimus yokogawai, which is most commonly found in the Far East, and which is transmitted via consumption of contaminated raw or undercooked fish. Symptoms typically range from asymptomatic to intermittent abdominal pain and diarrhea, with occasional ectopic infection." "" + "sublingual gland cancer" "A rare malignant neoplasm that arises from the sublingual gland. The majority are carcinomas." "" + "sublingual gland neoplasm" "A neoplasm (disease) that involves the sublingual gland." "" + "major salivary gland cancer" "A primary or metastatic malignant neoplasm affecting the major salivary glands. Representative examples include carcinoma, lymphoma, and sarcoma." "" + "fascioliasis" "A parasitic infection that is caused by liver flukes, usually Fasciola hepatica, of sheep, goats, and cattle. Humans become infected by eating uncooked, infested aquatic vegetation (classically watercress). adult flukes inhabit the bile ducts, gallbladder, and occasionally ectopic sites. Symptoms arise secondary to inflammatory response or obstruction." "" + "tumor of salivary gland" "A neoplasm (disease) that involves the saliva-secreting gland." "" + "lupus erythematosus" "An autoimmune, connective tissue chronic inflammatory disorder affecting the skin, joints, kidneys, lungs, heart, and the peripheral blood cells. It is more commonly seen in women than men. Variants include discoid and systemic lupus erythematosus." "" + "penis carcinoma in situ" "A in situ carcinoma that involves the penis." "" + "fasciolopsiasis" "A small bowel infection that is caused by Fasciolopsis buski, which is endemic in the Far East and Southeast Asia, and which is transmitted via the consumption of raw or undercooked aquatic plants. The spectrum of manifestations range from asymptomatic to intestinal symptoms from local invasion or allergic response." "" + "lower lip cancer" "A malignant neoplasm involving the lower lip." "" + "uveitis" "An inflammatory process affecting a part of or the entire uvea. Causes include inflammatory agents (e.g., herpes simplex, herpes zoster, leptospirosis) and systemic diseases (e.g., inflammatory bowel disease, multiple sclerosis, systemic lupus erythematosus, ankylosing spondylitis). Patients present with pain and redness in the eye, light sensitivity, and blurred and decreased vision." "" + "mitochondrial encephalomyopathy" "A heterogenous group of disorders characterized by alterations of mitochondrial metabolism that result in muscle and nervous system dysfunction. These are often multisystemic and vary considerably in age at onset (usually in the first or second decade of life), distribution of affected muscles, severity, and course. (From Adams et al., Principles of Neurology, 6th ed, pp984-5)" "" + "obsolete progressive myoclonus epilepsy" "" "true" + "tinea nigra" "A superficial mycosis that is a superficial fungal infection of the skin characterized by brown to black macules which usually occur on the palmar aspects of hands and occasionally the plantar and other surfaces of the skin, caused by Hortaea werneckii, which is a common saprophytic fungus believed to occur in soil, compost, humus and on wood in humid tropical and sub-tropical regions." "" + "leukoplakia of vagina" "Leukoplakia of the vagina." "" + "leukoplakia" "A white patch or plaque on a mucous membrane that cannot be characterized clinically or pathologically as any other disease. The diagnosis of leukoplakia is one of exclusion; other conditions such as candidiasis, lichen planus, leukoedema, etc., must be ruled out before a diagnosis of leukoplakia can be made. Leukoplakia may be a premalignant condition." "" + "primary thrombocytopenia" "" + "retromolar area cancer" "A malignant form of neoplasm of retromolar area." "" + "neoplasm of retromolar area" "" + "obsolete Evans' syndrome" "" "true" + "plantar fibromatosis" "A superficial fibromatosis arising from soft tissue of the plantar regions. It is characterized by the presence of spindle-shaped fibroblasts, hypercellularity, and an infiltrative growth pattern." "" + "superficial Fibromatosis" "A poorly circumscribed, intermediate fibrocytic neoplasm arising from the superficial soft tissues. It is characterized by the presence of spindle-shaped fibroblasts, and an infiltrative growth pattern." "" + "Waldeyer's ring cancer" "A malignant neoplasm involving the tonsillar ring." "" + "lattice corneal dystrophy" "" + "stromal corneal dystrophy" "The stromal corneal dystrophies refer to a group of rare genetically determined corneal dystrophies (CDs) characterized by lesions affecting the corneal stroma, and variable effects on vision depending on the type of dystrophy." "" + "severe nonproliferative diabetic retinopathy" "" + "obsolete sideroblastic anemia" "" "true" + "tonsillar fossa cancer" "A cancer involving a tonsillar fossa." "" + "autosomal dominant polycystic kidney disease" "Autosomal dominant form of polycystic kidney disease." "" + "polycystic kidney disease" "A usually autosomal dominant and less frequently autosomal recessive genetic disorder characterized by the presence of numerous cysts in the kidneys leading to end-stage renal failure. The autosomal dominant trait is associated with abnormalities on the short arm of chromosome 16. Symptoms in patients with the autosomal dominant trait usually appear at middle age and include abdominal pain, hematuria, and high blood pressure. Patients may develop brain aneurysms and liver cysts. Patients with the autosomal recessive trait present with progressive renal failure early in life and symptoms resulting from hepatic fibrosis. The autosomal recessive trait is associated with abnormalities of chromosome 6. Polycystic kidney disease may also result as a side effect in patients on renal dialysis." "" + "male infertility due to obstructive azoospermia of genetic origin" "True" + "obsolete choledochal cyst" "" "true" + "hepatopulmonary syndrome" "Hepatopulmonary syndrome (HPS) is a lung disease characterized by widening of arteries and veins (dilatation) in the lungs in people who have chronic liver disease. Because of the dilated vases, the workload of the heart increases and the blood pumped to the body does not have enough oxygen, leading to a decreased level of oxygen in the blood (hypoxemia). The normal diameter of the lung vessels ranges between 8 and 15 μm whereas when in HPS rises to between 15 and 500 μm. While many people with HPS don't have any obvious problems, the main reported symptom is shortness of breath (dyspnea) that is worse when standing or sitting up, and is relieved when lying down (platypnea). Symptoms related to chronic liver disease (generally cirrhosis) include small red spots on the skin (spider angiomas) and abnormal vascular dilatations. Some other symptoms that have been described are infections in the brain (brain abscesses), brain bleeding and an increased number of red blood cells in the blood (polycythemia). There is currently no effective medication for HPS. Oxygen therapy may improve the breathing in some cases. Liver transplant is an efficient treatment which improves the symptoms, even in severe cases." "" + "liver lymphoma" "A rare lymphoma that arises from the liver and the bulk of the tumor is located in the liver. The most frequent types of lymphoma that arise from the liver are diffuse large B-cell lymphoma and mucosa-associated lymphoid tissue lymphoma." "" + "larynx carcinoma in situ" "A in situ carcinoma that involves the larynx." "" + "esophageal leukoplakia" "A rare condition that usually affects the middle-to-distal esophagus in middle-aged and elderly people. There is usually a history of tobacco smoking or alcohol intake. Dysphagia is the presenting symptom. Morphologically, the lesions are well-demarcated and are characterized by epithelial hyperplasia, thickened basal layer, prominent granular cell layer, and hyperorthokeratosis. In a minority of patients this condition is associated with adjacent high-grade squamous dysplasia and/or squamous cell carcinoma." "" + "parotid gland cancer" "A primary or metastatic malignant neoplasm involving the parotid gland. Representative examples include carcinoma, malignant mixed tumor, and non-Hodgkin lymphoma." "" + "parotid gland neoplasm" "A neoplasm (disease) that involves the parotid gland." "" + "uterine cervix leukoplakia" "The presence of whitish patches on the mucosal surface of the cervix. Histologic examination reveals hyperkeratosis. In a minority of cases, underlying dysplasia or carcinoma in situ is present." "" + "bladder carcinoma in situ" "Also known as carcinoma in situ of the urinary bladder or high grade intraurothelial neoplasia, this is a flat lesion of the transitional cell epithelium characterized by severe cytologic atypia. This lesion is confined to the urothelium, and is a precursor of invasive transitional cell carcinoma of the bladder. Stage 0is includes: Tis, N0, M0. Tis: Carcinoma in situ: \"flat tumor\". N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)" "" + "bladder flat intraepithelial lesion" "A non-papillary neoplasm of the urinary bladder, whose classification categories include low-grade intraurothelial neoplasia and urothelial carcinoma in situ." "" + "obsolete peroxisomal disease" "" "true" + "liver solitary fibrous tumor" "A solitary fibrous tumor that arises from the liver. It affects females more frequently than males. Signs and symptoms include the presence of an abdominal mass and abdominal discomfort." "" + "solitary fibrous tumor" "Solitary fibrous tumor (SFT) represents a diverse group of ubiquitous rare spindle cell neoplasms that may be benign or malignant and that most frequently arises from the pleura and peritoneum and rarely from other sites such as head and neck, liver and skeletal muscle. SFT may be clinically asymptomatic or may present with enlarging mass, compressive effects depending on the site involved and rarely with paraneoplastic manifestations (osteoarthropathy or hypoglycemia)." "" + "discoid lupus erythematosus of eyelid" "" + "anal canal carcinoma in situ" "A carcinoma in situ involving a anal canal." "" + "rectum carcinoma in situ" "A in situ carcinoma that involves the rectum." "" + "esophagus carcinoma in situ" "Stage 0 includes: For squamous cell carcinoma: Tis (HGD), N0, M0, G1, GX, Tumor location: Any. For adenocarcinoma: Tis (HGD), N0, M0, G1, GX. Tis: High-grade dysplasia. N0: No regional lymph node metastasis. M0: No distant metastasis. G1: Well differentiated. GX: Grade cannot be assessed-stage grouping as G1. Tumor location: Location of the primary cancer site is defined by the position of the upper (proximal) edge of the tumor in the esophagus. (AJCC 7th ed.)" "" + "occipital lobe neoplasm" "A neoplasm involving a occipital lobe." "" + "obsolete amyloidosis" "" "true" + "herpes simplex dermatitis" "Localized rash characterized by grouped vesicles or pustules on an erythematous base that is caused by herpes simplex virus infection." "" + "lower gum cancer" "A cancer involving a gingiva of lower jaw." "" + "atrophic muscular disease" "A group of primary or secondary disorders affecting the muscles. It is characterized by an abnormal reduction in the muscle volume and atrophy. The atrophy may be caused by diseases of the muscle tissues or diseases of the peripheral nerves." "" + "carcinoma of liver and intrahepatic biliary tract" "A carcinoma that arises from the hepatocytes or intrahepatic bile ducts. The main subtypes are hepatocellular carcinoma (hepatoma) and cholangiocarcinoma." "" + "stomach carcinoma in situ" "A in situ carcinoma that involves the stomach." "" + "peliosis hepatis" "A vascular disease of the liver characterized by the occurrence of multiple blood-filled cysts or cavities. The cysts are lined with endothelial cells; the cavities lined with hepatic parenchymal cells (hepatocytes). Peliosis hepatis has been associated with use of anabolic steroids (anabolic agents) and certain drugs." "" + "xeroderma of eyelid" "" + "hard palate cancer" "A malignant neoplasm involving the hard palate." "" + "variola minor infection" "A orthopoxvirus that causes a milder clinical syndrome than smallpox." "" + "obsolete Wiskott-Aldrich syndrome" "" "true" + "submandibular gland cancer" "A malignant neoplasm involving the submandibular gland." "" + "major salivary gland carcinoma" "A carcinoma that arises from the parotid gland, submandibular gland, or sublingual gland." "" + "submandibular gland neoplasm" "A neoplasm (disease) that involves the submandibular gland." "" + "liver inflammatory myofibroblastic tumor" "A multinodular intermediate fibroblastic neoplasm arising from the liver. It is characterized by the presence of spindle-shaped fibroblasts and myofibroblasts, and a chronic inflammatory infiltrate composed of eosinophils, lymphocytes and plasma cells." "" + "inflammatory myofibroblastic tumor" "A multinodular intermediate fibroblastic neoplasm that arises from soft tissue or viscera, in children and young adults. It is characterized by the presence of spindle-shaped fibroblasts and myofibroblasts, and a chronic inflammatory infiltrate composed of eosinophils, lymphocytes, and plasma cells." "" + "vestibule of mouth cancer" "A cancer that involves the oral opening." "" + "diabetic macular edema" "" + "dyskinesia of esophagus" "Disorders affecting the motor function of the upper esophageal sphincter; lower esophageal sphincter; the esophagus body, or a combination of these parts. The failure of the sphincters to maintain a tonic pressure may result in gastric reflux of food and acid into the esophagus (gastroesophageal reflux). Other disorders include hypermotility (spastic disorders) and markedly increased amplitude in contraction (nutcracker esophagus)." "" + "central sleep apnea syndrome" "A broad classification of disorders which includes 6 subtypes (primary central sleep apnea, central sleep apnea due to Cheyne-Stokes breathing pattern, central sleep apnea due to medical condition not Cheyne-Stokes, central sleep apnea due to high-altitude periodic breathing, central sleep apnea due to drug or substance and primary sleep apnea of infancy) that are each characterized by interruptions in breathing while asleep. It is caused by improper signaling from the brainstem to respiratory muscles and is triggered by either hypoventilation or hyperventilation. In adults, this disorder may arise following a stroke, congestive heart failure, trauma, infection or the use of narcotic medications. It is more common in older males and may present as a co-morbid condition to obesity. Clinical signs include snoring, insomnia or hypersomnia, difficulty concentrating and fatigue. Recurrent episodes of hypoxia/hypoxemia have long-term detrimental effects on cardiovascular health." "" + "sleep apnea syndrome" "A disorder characterized by multiple cessations of respirations during sleep that induce partial arousals and interfere with the maintenance of sleep." "" + "kidney carcinoma in situ" "A carcinoma in situ involving a kidney." "" + "renal carcinoma" "A carcinoma arising from the epithelium of the renal parenchyma or the renal pelvis. The majority are renal cell carcinomas. Kidney carcinomas usually affect middle aged and elderly adults. Hematuria, abdominal pain, and a palpable mass are common symptoms." "" + "pyriform sinus cancer" "A primary or metastatic malignant neoplasm that affects the pyriform sinus." "" + "obsolete erythromelalgia" "" "true" + "obsolete Alagille syndrome" "" "true" + "amino acid metabolism disease" "A disease that has its basis in the disruption of cellular amino acid metabolic process." "" + "homocystinuria" "An autosomal recessive inherited metabolic disorder caused by mutations in the CBS, MTHFR, MTR, and MTRR genes. It is characterized by abnormalities in the methionine metabolism and is associated with deficiency of cystathionine synthase. It results in the accumulation of homocysteine in the serum. It may affect the cardiovascular, musculoskeletal and the central nervous systems." "" + "methylmalonic acidemia without homocystinuria" "Methylmalonic acidemia is an inborn error of vitamin B12 metabolism characterized by gastrointestinal and neurometabolic manifestations resulting from decreased function of the mitochondrial enzyme methylmalonyl-CoA mutase." "True" + "histidine metabolism disease" "A disease that has its basis in the disruption of histidine metabolic process." "" + "urea cycle disorder" "A genetic inborn error of metabolism characterized by the deficiency of one of the enzymes necessary for the urea cycle. It results in accumulation of ammonia in the body." "" + "obsolete hyperlysinemia" "" "true" + "tyrosinemia" "An autosomal recessive inherited metabolic disorder caused by mutations in the FAH, HPD, and TAT genes. It is characterized by deficiency of one of the enzymes that are involved in the metabolism of tyrosine. It results in elevated blood tyrosine levels and accumulation of tyrosine and its byproducts in the liver, kidney, nervous system and other organs." "" + "disorder of tyrosine metabolism" "" + "primary cerebellar degeneration" "A heterogenous group of degenerative syndromes marked by progressive cerebellar dysfunction either in isolation or combined with other neurologic manifestations. Sporadic and inherited subtypes occur. Inheritance patterns include autosomal dominant, autosomal recessive, and X-linked." "" + "cerebellar degeneration" "Degeneration of the cerebellum. It may be an inherited condition, a paraneoplastic syndrome, or secondary to autoimmune disorders." "" + "hyperhomocysteinemia" "A serious metabolic condition caused by mutations in the MTHFR gene, medications, or nutritional deficiency. It results in increased levels of homocysteine in the blood. Patients with this condition are at an increased risk for recurrent blood clots formation and cardiovascular accidents." "" + "priapism" "Persistent and usually painful erection that lasts for at least four hours in the absence of physical or psychological stimulation, which can be caused by hematologic disorders, including sickle cell disease and leukemia, spinal cord injuries, and medications." "" + "erectile dysfunction" "Persistent or recurrent inability to achieve or to maintain an erection during sexual activity." "" + "myopathy of extraocular muscle" "A myopathy that involves the extra-ocular muscle." "" + "cleft lip" "A congenital abnormality consisting of one or more clefts (splits) in the upper lip, which may be accompanied by a cleft palate; it is the result of the failure of the embryonic parts of the lip to fuse." "" + "myocardium cancer" "A malignant neoplasm involving the myocardium." "" + "neoplasm of myocardium" "A neoplasm (disease) that involves the myocardium." "" + "neurofibroma of the heart" "A rare neurofibroma that affects the heart." "" + "mechanical strabismus" "" + "rectal prolapse" "Protrusion of the rectum through the anus." "" + "monieziasis" "Infection of ruminants with tapeworms of the genus Moniezia." "" + "chronic ethmoidal sinusitis" "Inflammation of the ethmoid sinus that typically lasts beyond eight weeks. It is caused by infections, allergies, and the presence of sinus polyps or a deviated septum. Signs and symptoms include headache, nasal discharge, swelling in the face, dizziness, and breathing difficulties." "" + "ethmoid sinusitis" "An acute or chronic inflammatory process affecting the mucous membrane of the ethmoid sinus." "" + "scotoma" "A localized defect in the visual field bordered by an area of normal vision. This occurs with a variety of eye diseases (e.g., retinal diseases and glaucoma); optic nerve diseases, and other conditions." "" + "bestiality" "" + "urethral false passage" "" + "obsolete urethral diverticulum" "" "true" + "Taylor syndrome" "" + "carotid artery dissection" "Spontaneous or traumatic separation of the layers of the carotid artery wall. It manifests with headache, neck pain, temporary vision loss, and/or ischemic stroke." "" + "fibular collateral ligament bursitis" "" + "intrinsic asthma" "An asthma that is triggered by factors not related to allergies such as anxiety, stress, exercise, cold air, dry air, hyperventilation, smoke, viruses, chemical irritants, autonomic imbalance, hormonal deficiencies and psychogenic influences. It is characterized by airway obstruction and inflammation that is at least partially reversible with medication. The symptoms include coughing, wheezing, shortness of breath or rapid breathing, and chest tightness." "" + "allergic asthma" "A asthma with a basis in a pathological type I hypersensitivity reaction." "" + "status asthmaticus" "An acute exacerbation of asthma, characterized by inadequate response to initial bronchodilators." "" + "orbital plasma cell granuloma" "A nonspecific tumor-like inflammatory lesion in the orbit of the eye. It is usually composed of mature lymphocytes; plasma cells; macrophages; leukocytes with varying degrees of fibrosis. Orbital pseudotumors are often associated with inflammation of the extraocular muscles (orbital myositis) or inflammation of the lacrimal glands (dacryoadenitis)." "" + "exophthalmos" "The anterior displacement of the eye within the orbit, giving a bulging appearance." "" + "Fuchs' heterochromic uveitis" "A syndrome that is a chronic unilateral (or rarely bilateral) iridocyclitis appearing with the triad of heterochromia, predisposition to cataracts and glaucoma, and keratitic percipitates on the posterior corneal surface." "" + "glaucomatocyclitic crisis" "" + "iridocyclitis" "An inflammation of the iris and the ciliary body" "" + "anterior uveitis" "Inflammation of the iris and anterior chamber of the eye." "" + "iritis" "Inflammation of the iris." "" + "gonococcal iridocyclitis" "An iridocyclitis (disease) caused by infection with Neisseria gonorrhoeae." "" + "gonococcal endophthalmia" "" + "lens-induced iridocyclitis" "" + "obsolete infectious anterior uveitis" "" "true" + "epididymo-orchitis" "A disorder involving inflammation of the epididymis and testes." "" + "strictly posterior acute myocardial infarction" "" + "diabetes insipidus" "A disorder characterized by excretion of large amounts of urine, accompanied by excessive thirst. Causes include deficiency of antidiuretic hormone or failure of the kidneys to respond to antidiuretic hormone. It may also be drug-related." "" + "obsolete panhypopituitarism" "" "true" + "chronic cholangitis" "Cholangitis that is persistent and long-standing." "" + "cervical mullerian papilloma" "A rare, benign, papillary neoplasm that arises from the cervix. It is characterized by the presence of a fibrovascular core covered by mucinous epithelial cells." "" + "cervix squamous papilloma" "A papilloma that arises from the squamous epithelium of the cervix." "" + "non-neoplastic bile duct disorder" "A non-neoplastic disorder that affects the intrahepatic or extrahepatic bile ducts. Representative examples include cholangitis and biliary atresia." "" + "fatty liver disease" "A reversible condition wherein large vacuoles of triglyceride fat accumulate in liver cells via the process of steatosis." "" + "obsolete lipid storage disease" "" "true" + "cancer of isthmus of fallopian tube" "A cancer that involves the UBERON:0016632." "" + "obsolete uterine corpus cancer" "" "true" + "exposure keratitis" "" + "obsolete Sheehan syndrome" "" "true" + "ulcerative blepharitis" "" + "chronic dacryoadenitis" "Chronic form of dacryoadenitis." "" + "unilateral hypoactive labyrinth" "" + "pulmonary eosinophilia" "A condition characterized by infiltration of the lung with eosinophils due to inflammation or other disease processes. Major eosinophilic lung diseases are the eosinophilic pneumonias caused by infections, allergens, or toxic agents." "" + "hypereosinophilic syndrome" "Hypereosinophilic syndrome (HES) constitutes a rare and heterogeneous group of disorders, defined as persistent and marked blood eosinophilia and/or tissue eosinophilia associated with a wide range of clinical manifestations reflecting eosinophil-induced tissue/organ damage." "" + "disseminated eosinophilic collagen disease" "" + "chronic eosinophilic pneumonia" "Chronic inflammatory disorder of the lungs characterized by the presence of eosinophils in the interalveolar septa and alveolar spaces and peripheral blood eosinophilia. Chest x-rays reveal peripheral infiltrates. Approximately half of the patients have history of asthma or atopic disease. Signs and symptoms include fever, dyspnea, cough, and weight loss. Following treatment with corticosteroids, the eosinophilic infiltrates in the lungs disappear, resulting in dramatic clinical improvement." "" + "eosinophilic pneumonia" "An inflammatory lung disorder characterized by an increased number of eosinophils in the lungs. The majority of cases are idiopathic, without identifiable cause. In a minority of cases, medications, fungal infections, and environmental triggers have been implicated. It manifests as acute or chronic. Acute eosinophilic pneumonia is a severe and rapidly progressing pneumonia that may lead to respiratory failure requiring mechanical ventilation. Chronic eosinophilic pneumonia follows a slower course and manifests as fever, dyspnea, cough, and weight loss." "" + "obsolete Loeffler syndrome" "" "true" + "benign mammary dysplasia" "" + "obsolete cannabis abuse" "" "true" + "acute ethmoiditis" "Acute form of ethmoid sinusitis." "" + "simple chronic conjunctivitis" "" + "acute dacryoadenitis" "Acute form of dacryoadenitis." "" + "tuberculous pneumothorax" "A pneumothorax in which air enters into the pleural cavity." "" + "obsolete vascular skin disease" "" "true" + "osteosclerotic plasma cell myeloma" "A plasma cell neoplasm associated with osteosclerotic and fibrotic changes in the bone trabeculae. Often, the lymph nodes show changes resembling the plasma cell variant of Castleman disease. It is often part of POEMS syndrome which is characterized by polyneuropathy, organomegaly, endocrinopathy, monoclonal gammopathy, and skin changes." "" + "plasma cell myeloma" "A bone marrow-based plasma cell neoplasm characterized by a serum monoclonal protein and skeletal destruction with osteolytic lesions, pathological fractures, bone pain, hypercalcemia, and anemia. Clinical variants include non-secretory myeloma, smoldering myeloma, indolent myeloma, and plasma cell leukemia. (WHO, 2001)" "" + "refractory plasma cell neoplasm" "A plasma cell neoplasm that is resistant to treatment." "" + "non-secretory plasma cell myeloma" "A rare type of multiple myeloma in which the plasma cells synthesize but do not secrete immunoglobulins. As a result, none of the immunoglobulins appear out of the normal range. The symptoms are generally the same with those of immunoglobulin-secreting myeloma; however, the incidence of renal insufficiency is lower in non-secretory myeloma. The diagnosis can be missed because of the absence of monoclonal immunoglobulin in the serum or urine." "" + "obsolete benign neurilemmoma" "" "true" + "indolent plasma cell myeloma" "" + "smoldering plasma cell myeloma" "A plasma cell myeloma lacking clinical manifestations and organ impairment." "" + "bronchiectasis" "Segmental, irreversible dilation of the bronchial tree resulting in the accumulation of secretions which leads to obstruction. The most common cause is bacterial infection." "" + "chronic obstructive pulmonary disease" "A chronic and progressive lung disorder characterized by the loss of elasticity of the bronchial tree and the air sacs, destruction of the air sacs wall, thickening of the bronchial wall, and mucous accumulation in the bronchial tree. The pathologic changes result in the disruption of the air flow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough, and chest tightness. The two main types of chronic obstructive pulmonary disease are chronic obstructive bronchitis and emphysema." "" + "obsolete dextrocardia" "" "true" + "neonatal candidiasis" "A fungal infection by any of the Candida species in a newborn infant up to 28 days old." "" + "obsolete encephalitis" "" "true" + "urethral calculus" "A concretion in the urethra." "" + "urolithiasis" "Stone(s) within the urinary tract." "" + "esophagus squamous cell papilloma" "A rare neoplasm arising from the distal third of the esophagus. Morphologically, it is characterized by the presence of fibrovascular cores covered by mature stratified squamous epithelium. Progression to squamous cell carcinoma is extremely rare." "" + "Krukenberg carcinoma" "Metastatic signet-ring cell carcinoma to the ovary. The primary site is the gastrointestinal tract or breast." "" + "metastatic carcinoma" "A carcinoma which has spread from the original site of growth to another anatomic site." "" + "proliferative fasciitis" "A rapidly growing, poorly circumscribed, mass-forming proliferation that arises from the subcutaneous tissues. It is characterized by the presence of spindle-shaped fibroblasts, round ganglion-like cells, myxoid to collagenous stroma formation, and high mitotic activity. It recurs only rarely following local excision and does not metastasize." "" + "esophagus leiomyoma" "A benign smooth muscle neoplasm arising from the lower part of the esophagus. It is the most common mesenchymal neoplasm of the esophagus. Dysphagia is a frequent clinical symptom." "" + "plantar fasciitis" "Inflammation of the thick tissue on the bottom of the foot (plantar fascia) causing heel pain. The plantar fascia (also called plantar aponeurosis) are bands of fibrous tissue extending from the calcaneal tuberosity to the toes. The etiology of plantar fasciitis remains controversial but is likely to involve a biomechanical imbalance. Though often presenting along with heel spur, they do not appear to be causally related." "" + "ischemic fasciitis" "A reactive, painless lesion which is characterized by a pseudosarcomatous proliferation of fibroblasts and myofibroblasts usually in the deep subcutaneous tissue. It occurs mainly around the limb girdles, sacral region, and greater trochanter. It affects mainly elderly patients and sometimes is associated with physical immobility. Local excision is usually curative." "" + "necrotizing fasciitis" "Necrotizing fasciitis is a serious infection of the skin, the tissue just beneath the skin (subcutaneous tissue), and the tissue that covers internal organs (fascia). Necrotizing fasciitis can be caused by several different types of bacteria, and the infection can arise suddenly and spread quickly. Early signs include flu-like symptoms and redness and pain around the infection site. A prompt diagnosis and treatment are essential.If the infection is not treated promptly, it can lead to multiple organ failure and death. Treatment typically includes intravenous (IV) antibiotics and surgery to remove infected and dead tissue." "" + "intravascular fasciitis" "A rare self-limiting, rapidly growing, non-encapsulated benign neoplasm that arises from the vessels. It is characterized by the presence of plump spindle-shaped fibroblasts, multinucleated osteoclast-like giant cells, chronic inflammatory infiltrate, red blood cell extravasation, and high mitotic activity." "" + "neurofibroma of the esophagus" "A non-metastasizing encapsulated neoplasm arising from nerves in the esophagus. Morphologically, it is characterized by the presence of fibroblasts and Schwann cells." "" + "orthostatic proteinuria" "" + "obsolete neurofibroma" "" "true" + "non-congenital cyst of kidney" "" + "kidney hypertrophy" "Global enlargement of the renal parenchyma in one or both kidneys." "" + "oral mucosa leukoplakia" "A white patch or plaque on the oral mucosa that cannot be characterized clinically or pathologically as any other disease. The diagnosis of leukoplakia is one of exclusion; other conditions such as candidiasis, lichen planus, leukoedema, etc., must be ruled out before a diagnosis of leukoplakia can be made. Leukoplakia may be a premalignant condition." "" + "aphthous stomatitis" "A recurrent disease of the oral mucosa of unknown etiology. It is characterized by small white ulcerative lesions, single or multiple, round or oval, lasting for 7-14 days and healing without scarring." "" + "canker sore" "A type of stomatitis that is characterized by small white ulcerative lesions, single or multiple, round or oval, lasting for 7-14 days and healing without scarring. It is a recurrent disease of the oral mucosa of unknown etiology." "" + "placental abruption" "Vaginal bleeding preceding the 20th week of gestation." "" + "ulcerative stomatitis" "Inflammation of the mouth mucosa associated with the presence of ulcers." "" + "obsolete yellow fever" "" "true" + "toxic myocarditis" "" + "gonococcal keratitis" "" + "ophthalmia neonatorum" "Inflammation of the conjunctiva in a newborn due to chemical or infectious causes. Aseptic conjunctivitis is often related to the use of prophylactic medications for infectious conjunctivitis. Septic conjunctivitis is related to perinatal exposure to microorganisms." "" + "gonococcal conjunctivitis" "Inflammation of the conjunctiva in a newborn due to Neisseria gonorrhoeae which was acquired during labor and delivery." "" + "rosacea conjunctivitis" "" + "tendinopathy" "Disorders that are causes by overuse of tendons." "" + "occlusion of gallbladder" "Blockage of the normal flow of the contents of the gallbladder." "" + "hydrops of gallbladder" "" + "vitreous body disorder" "Any disease affecting the vitreous body of the eye." "" + "ophthalmia nodosa" "" + "vitreous abscess" "" + "purulent endophthalmitis" "" + "acute allergic mucoid otitis media" "A blue drum syndrome caused by an allergen." "" + "blue drum syndrome" "A acute transudative otitis media involving thick, viscid and mucuslike fluid effusion due to which the drum appears blue in color." "" + "obsolete diabetic neuropathy" "" "true" + "perianal hematoma" "" + "hemorrhoid" "Dilated veins in the anal canal." "" + "internal hemorrhoid" "A hemorrhoid which originates above the dentate line." "" + "ganglion or cyst of synovium/tendon/bursa" "" + "xanthogranulomatous cholecystitis" "Cholecystitis that is characterized by nodules containing lipid." "" + "myocardial stunning" "Prolonged dysfunction of the myocardium after a brief episode of severe ischemia, with gradual return of contractile activity." "" + "transient neonatal thrombocytopenia" "" + "neonatal thrombocytopenia" "" + "female breast upper-outer quadrant cancer" "" + "senile atrophy of choroid" "" + "choroidal sclerosis" "A neurodegenerative disease that involves the optic choroid." "" + "myositis fibrosa" "A form of myositis that is characterized by the formation of connective tissue within the muscle." "" + "angioid streaks of choroid" "A angioid streaks that involves the optic choroid." "" + "angioid streaks" "Small breaks in the elastin-filled tissue of the retina." "" + "hereditary choroidal atrophy" "" + "diffuse secondary choroid atrophy" "" + "obsolete polyarteritis nodosa" "" "true" + "partial circumpapillary choroid dystrophy" "" + "total central choroidal atrophy" "" + "central areolar choroidal dystrophy" "Central areolar choroidal dystrophy (CACD) is a hereditary macular disorder, usually presenting between the ages of 30-60, characterized by a large area of atrophy in the centre of the macula and the loss or absence of photoreceptors, retinal pigment epithelium and choriocapillaris in this area, resulting in a progressive decrease in visual acuity." "" + "choroideremia" "Choroideremia (CHM) is an X-linked chorioretinal dystrophy characterized by progressive degeneration of the choroid, retinal pigment epithelium (RPE) and retina." "" + "partial central choroid dystrophy" "" + "hypertropia" "Vertical strabismus in which there is permanent upward deviation of the visual axis of one eye." "" + "cyclotropia" "" + "accommodative esotropia" "" + "hypotropia" "Vertical strabismus in which there is permanent downward deviation of the visual axis of one eye." "" + "total circumpapillary dystrophy of choroid" "" + "monofixation syndrome" "" + "peripheral vertigo" "" + "lingual-facial-buccal dyskinesia" "Syndromes which feature dyskinesias as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions." "" + "toxic maculopathy" "" + "intestinal disaccharidase deficiency" "Inherited or acquired disorders of sugar metabolism. Deficiencies of lactase, maltase or sucrase-isomaltase usually occur irreversibly and independent of one another. Congenital deficiencies are rare whereas acquired deficiencies are more common and may be seen following intestinal mucosal brush-border injury. Clinical signs include abdominal cramping, bloating, flatulence and diarrhea following dietary intake of lactose, maltose or sucrose. The clinical course leads to malabsorption of disaccharides which has implications for normal growth and development if manifested at an early age." "" + "metabolic disease with intestinal involvement" "A metabolic disease that involves the intestine." "True" + "obsolete hereditary fructose intolerance syndrome" "" "true" + "hair anomaly" "" + "obsolete galactosemia" "" "true" + "urethral gland abscess" "" + "mitral valve prolapse" "A fairly common and often benign valvular heart disorder characterized by redundancy or hooding of mitral valve leaflets so that they prolapse into the left atrium, often causing mitral regurgitation. It is often a symptomless condition but may be marked by varied symptoms (e.g. chest pain, fatigue, dizziness, dyspnea, or palpitations) leading in some cases to endocarditis or ventricular tachycardia." "" + "cardiovascular syphilis" "A tertiary syphilis that is manifested as aneurysm formation in the ascending aorta, caused by chronic inflammatory destruction of the vasa vasorum, insufficiency of the aortic valve, or narrowing of the coronary arteries." "" + "obsolete muscular dystrophy" "" "true" + "alternating esotropia" "" + "celiac artery stenosis from compression by median arcuate ligament of diaphragm" "A syndromic disease that involves the median arcuate ligament." "" + "diaphragm disease" "A disease involving the diaphragm." "" + "" "true" + "" "true" + "internal hordeolum" "A hordeolum that results from infection of a meibomian gland." "" + "sebaceous gland disease" "A disease involving the sebaceous gland." "" + "central corneal ulcer" "" + "infected hydrocele" "" + "hydrocele" "" + "obsolete Omsk hemorrhagic fever" "" "true" + "developmental coordination disorder" "A disorder characterized by an impairment in the development of an individual's motor coordination skills; this impairment in motor development is not due to a medical condition." "" + "chronic inflammation of lacrimal passage" "" + "chronic canaliculitis" "Chronic form of actinomycosis." "" + "actinomycosis" "Actinomycosis is a chronic bacterial infection that commonly affects the face and neck. It is usually caused by an anaerobic bacteria called Actinomyces israelii. Actinomyces are normal inhabitants of the mouth, gastrointestinal tract, and female genital tract, and do not cause an infection unless there is a break in the skin or mucosa. The infection usually occurs in the face and neck, but can sometimes occur in the chest, abdomen, pelvis, or other areas of the body. The infection is not contagious." "" + "eye infectious disease" "An infectious process affecting any part of the eye. Causes include viruses and bacteria. Symptoms include itching and discomfort in the eye, watery eyes, eye pain and discharge, and blurring vision. Representative examples include pink eye, blepharitis, and trachoma." "" + "chronic dacryocystitis" "Chronic form of dacryocystitis." "" + "dacryocystocele" "A congenital or acquired mucocele that develops in the lacrimal sac. It is usually the result of nasolacrimal duct abnormalities or obstruction." "" + "constant exophthalmos" "" + "steroid-induced glaucoma" "" + "residual stage corticosteroid-induced glaucoma" "" + "null-cell leukemia" "" + "hypoplastic left heart syndrome" "Hypoplastic left heart syndrome (HLHS) refers to the abnormal development of the left-sided cardiac structures, resulting in obstruction to blood flow from the left ventricular outflow tract. In addition, the syndrome includes underdevelopment of the left ventricle, aorta, and aortic arch, as well as mitral atresia or stenosis." "" + "congenital left-sided heart lesions" "Serious heritable structural anomalies of the left side of the heart, including hypoplastic left heart syndrome, aortic valve stenosis, coarctation of the aorta, mitral valve anomalies and bicuspid aortic valve, that are present from birth." "" + "univentricular cardiopathy" "" + "acquired carotenemia" "" + "carotenemia" "" + "uterine inversion" "A complication of obstetric labor in which the corpus of the uterus is forced completely or partially through the uterine cervix. This can occur during the late stages of labor and is associated with immediate postpartum hemorrhage." "" + "hypervitaminosis D" "" + "substance dependence" "The psychological or physiological need to take a substance in order to experience its effects or to avoid the effects of its absence." "" + "hallucinogen dependence" "A drug dependence for a hallucinogenic substance." "" + "acute female pelvic peritonitis" "" + "eosinophilia-myalgia syndrome" "A complex systemic syndrome with inflammatory and autoimmune components that affect the skin, fascia, muscle, nerve, blood vessels, lung, and heart. Diagnostic features generally include eosinophilia, myalgia severe enough to limit usual activities of daily living, and the absence of coexisting infectious, autoimmune or other conditions that may induce eosinophilia. Biopsy of affected tissue reveals a microangiopathy associated with diffuse inflammation involving connective tissue. (From Spitzer et al., J Rheumatol Suppl 1996 Oct;46:73-9; Blackburn wd, Semin Arthritis Rheum 1997 Jun;26(6):788-93)" "" + "orbit lymphoma" "A lymphoma that arises from the structures of the orbit. Representative examples include mucosa-associated lymphoid tissue lymphoma, follicular lymphoma, and diffuse large B-cell lymphoma." "" + "obsolete hypereosinophilic syndrome" "" "true" + "hypoglycemia" "Abnormally low level of glucose in the blood." "" + "B-cell acute lymphoblastic leukemia" "A neoplasm of lymphoblasts committed to the B-cell lineage, typically composed of small to medium-sized blast cells. When the neoplasm involves predominantly the bone marrow and the peripheral blood, it is called B acute lymphoblastic leukemia. When it involves nodal or extranodal sites, it is called B lymphoblastic lymphoma. (WHO, 2001)" "" + "B-cell non-Hodgkin lymphoma" "The most common type of non-Hodgkin lymphoma. It includes the most frequently seen morphologic variants which are: diffuse large B-cell lymphoma, follicular lymphoma, small lymphocytic lymphoma and marginal zone B-cell lymphoma. -- 2003" "" + "indolent B-cell non-Hodgkin lymphoma" "" + "susceptibility to HIV infection" "The type species of lentivirus and the etiologic agent of acquired immunodeficiency syndrome (AIDS). It is characterized by its cytopathic effect and affinity for the T4-lymphocyte." "" + "HIV infectious disease" "An infection caused by the human immunodeficiency virus." "" + "obsolete malt lymphoma" "" "true" + "metabolic syndrome" "A combination of medical conditions that, when present, increase the risk of heart attack, stroke, and diabetes mellitus. It includes the following medical conditions: increased blood pressure, central obesity, abnormal cholesterol levels, and elevated fasting glucose." "" + "metastatic prostate carcinoma" "A carcinoma that arises from the prostate gland and has spread to other anatomic sites." "" + "mucin-producing carcinoma" "" + "lip and oral cavity squamous cell carcinoma" "A squamous cell carcinoma arising from the lip or the oral cavity. The oral cavity squamous cell carcinoma usually arises from the buccal mucosa, tongue, or gums. It occurs predominantly in adults who use tobacco and alcohol and has a tendency to metastasize early to lymph nodes." "" + "stage I endometrioid carcinoma" "Endometrial cancer is a cancer that arises from the endometrium (the lining of the uterus or womb).It is the result of the abnormal growth of cells that have the ability to invade or spread to other parts of the body. The first sign is most often vaginal bleeding not associated with a menstrual period. Other symptoms include pain with urination or sexual intercourse, or pelvic pain. Endometrial cancer occurs most commonly after menopause. In stage I, the cancer is only growing in the body of the uterus. It may also be growing into the glands of the cervix, but is not growing into the supporting connective tissue of the cervix." "" + "obsolete stage of disease" "" "true" + "stage II endometrioid carcinoma" "Endometrial carcinoma is a carcinoma that arises from the endometrium (the lining of the uterus or womb). It is the result of the abnormal growth of cells that have the ability to invade or spread to other parts of the body. The first sign is most often vaginal bleeding not associated with a menstrual period. Other symptoms include pain with urination or sexual intercourse, or pelvic pain. Endometrial cancer occurs most commonly after menopause. In stage II the cancer has spread from the body of the uterus and is growing into the supporting connective tissue of the cervix (called the cervical stroma). The cancer has spread into connective tissue of the cervix, but has not spread outside the uterus." "" + "peripheral T-cell lymphoma, not otherwise specified" "Aggressive nodal or extranodal mature (peripheral) T-cell lymphomas that do not belong to the better defined entities of the remainder of mature T-cell lymphomas. This category includes the following variants: lymphoepithelioid cell variant (Lennert's lymphoma), follicular variant, and T-zone variant." "" + "lymphoid leukemia" "A malignant lymphocytic neoplasm of B-cell or T-cell lineage involving primarily the bone marrow and the peripheral blood. This category includes precursor or acute lymphoblastic leukemias and chronic leukemias." "" + "neoplasm of immature B and T cells" "A neoplasm arising from immature B and T cells" "" + "acute leukemia" "A clonal (malignant) hematopoietic disorder with an acute onset, affecting the bone marrow and the peripheral blood. The malignant cells show minimal differentiation and are called blasts, either myeloid blasts (myeloblasts) or lymphoid blasts (lymphoblasts)." "" + "obsolete acute myelomonocytic leukemia" "" "true" + "acute quadriplegic myopathy" "Acute quadriplegic myopathy (AQM) is a specific acquired myopathy in ICU patients. Patients with AQM are characterized by severe muscle weakness and atrophy of spinal nerve innervated limb and trunk muscles, while cranial nerve innervated craniofacial muscles, sensory and cognitive functions are spared or less affected. The muscle weakness is associated with altered muscle membrane properties and a preferential loss of the motor protein myosin and myosin-associated thick filament proteins. Prolonged mechanical ventilation, muscle unloading, postsynaptic block of neuromuscular transmission, sepsis and systemic corticosteroid hormone treatment have been suggested as important triggering factors in AQM." "" + "adenosquamous lung carcinoma" "An aggressive carcinoma with a poor prognosis characterized by a presence of both malignant squamous cells and glandular cells." "" + "non-small cell squamous lung carcinoma" "A squamous cell carcinoma that arises from the lung. It is characterized by the presence of large malignant cells. It includes the clear cell and papillary variants of squamous cell carcinoma." "" + "adrenal gland pheochromocytoma" "A benign or malignant neuroendocrine neoplasm of the sympathetic nervous system that secretes catecholamines. It arises from the chromaffin cells of the adrenal medulla. Clinical presentation includes headaches, palpitations, chest and abdominal pain, hypertension, fever, and tremor. Microscopically, a characteristic nesting (zellballen) growth pattern is usually seen. Other growth patterns including trabecular pattern may also be present." "" + "Alzheimer disease" "A progressive, neurodegenerative disease characterized by loss of function and death of nerve cells in several areas of the brain leading to loss of cognitive function such as memory and language." "" + "tauopathy" "Neurodegenerative disorders involving deposition of abnormal tau protein isoforms (tau proteins) in neurons and glial cells in the brain. Pathological aggregations of tau proteins are associated with mutation of the tau gene on chromosome 17 in patients with alzheimer disease; dementia; parkinsonian disorders; progressive supranuclear palsy (supranuclear palsy, progressive); and corticobasal degeneration." "" + "amyotrophic lateral sclerosis" "Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by progressive muscular paralysis reflecting degeneration of motor neurons in the primary motor cortex, corticospinal tracts, brainstem and spinal cord." "" + "angioimmunoblastic T-cell lymphoma" "A mature T-cell non-Hodgkin lymphoma, characterized by systemic disease and a polymorphous infiltrate involving lymph nodes and extranodal sites. The clinical course is typically aggressive." "" + "aortic stenosis" "In the same amount or manner; to the same degree; in the role, function, or capacity of." "" + "atrial fibrillation" "A disorder characterized by an electrocardiographic finding of a supraventricular arrhythmia characterized by the replacement of consistent P waves by rapid oscillations or fibrillatory waves that vary in size, shape and timing and are accompanied by an irregular ventricular response. (CDISC)" "" + "azoospermia" "Complete absence of spermatozoa in the semen." "" + "genetic infertility" "Genetic infertility." "" + "basal-like breast carcinoma" "A biologic subset of breast carcinoma defined by high expression of genes characteristic of basal epithelial cells, including KRT5 and KRT17, annexin 8, CX3CL1, and TRIM29, and usually by lack of expression of the estrogen receptor (ER), progesterone receptor (PR), and human epidermal growth factor receptor 2 (HER2). It is the most common subtype of breast cancer associated with BRCA1 mutations, and is associated with a poor prognosis." "" + "triple-negative breast carcinoma" "An invasive breast carcinoma which is negative for expression of estrogen receptor (ER), progesterone receptor (PR), and human epidermal growth factor receptor 2 (HER2)." "" + "breast tumor luminal A or B" "Subsets of breast carcinoma defined by expression of genes characteristic of luminal epithelial cells." "" + "childhood acute myeloid leukemia" "Acute myeloid leukemia occurring in childhood." "" + "acute myeloid leukemia" "Acute myeloid leukemia (AML) is a group of neoplasms arising from precursor cells committed to the myeloid cell-line differentiation. All of them are characterized by clonal expansion of myeloid blasts. AML manifests by fever, pallor, anemia, hemorrhages and recurrent infections." "" + "bilineal acute myeloid leukemia" "An acute leukemia of ambiguous lineage in which there is a dual population of blasts with each population expressing markers of a distinct lineage (myeloid and lymphoid or B-and T-lymphocyte). (WHO, 2001) -- 2003" "" + "chondroblastoma" "A benign, chondroid-producing, well-circumscribed, lytic neoplasm usually arising from the epiphysis of long bones. It is characterized by the presence of chondroblasts, osteoclast-like giant cells, chondroid formation, calcification, and mitotic activity. In aggressive cases, there is rearrangement of the 8q21 chromosome band. It occurs most frequently in children and young adults and rarely metastasizes." "" + "obsolete chondromyxoid fibroma" "" "true" + "obsolete chondrosarcoma" "" "true" + "obsolete chromophobe renal cell carcinoma" "" "true" + "chronic gastritis" "Inflammation of the stomach that is chronic in nature." "" + "chronic pancreatitis" "A chronic inflammatory process causing damage and fibrosis of the pancreatic parenchyma. Signs and symptoms include abdominal pain, malabsorption and diabetes mellitus." "" + "nonpapillary renal cell carcinoma" "" + "clear cell sarcoma of kidney" "A rare pediatric sarcoma affecting the kidney. It is characterized by the presence of epithelioid or spindle cells forming cords or nests, separated by fibrovascular septa. It is associated with internal tandem duplications in the BCOR gene. It metastasizes to lung, bone, brain and soft tissue." "" + "obsolete inherited renal tumor" "" "true" + "colon mucinous adenocarcinoma" "An invasive adenocarcinoma of the colon characterized by the presence of pools of extracellular mucin. Malignant glandular epithelial cells are present in the mucin collections. Mucin constitutes more than 50% of the lesion." "" + "heart failure" "Inability of the heart to pump blood at an adequate rate to meet tissue metabolic requirements. Clinical symptoms of heart failure include: unusual dyspnea on light exertion, recurrent dyspnea occurring in the supine position, fluid retention or rales, jugular venous distension, pulmonary edema on physical exam, or pulmonary edema on chest x-ray presumed to be cardiac dysfunction." "" + "inflammatory bowel disease" "A spectrum of small and large bowel inflammatory diseases of unknown etiology. It includes Crohn's disease, ulcerative colitis, and colitis of indeterminate type." "" + "melanocytic skin neoplasm" "A melanocytic neoplasm that involves the zone of skin." "" + "dedifferentiated chondrosarcoma" "An aggressive morphologic variant of chondrosarcoma. It is composed of a low grade chondrosarcoma and a high grade non-cartilagenous sarcomatous component. Due to the aggressive nature of the disease, its prognosis is poor." "" + "obsolete dermatomyositis" "Inflammation of the skin and muscle." "" "true" + "diabetic kidney disease" "Progressive kidney disorder caused by vascular damage to the glomerular capillaries, in patients with diabetes mellitus. It is usually manifested with nephritic syndrome and glomerulosclerosis." "" + "diffuse type adenocarcinoma" "An adenocarcinoma characterized by the presence of a diffuse cellular infiltrate which is composed of poorly cohesive cells with minimal or no glandular formations. Representative example is the gastric diffuse adenocarcinoma." "" + "obsolete diffuse large B-cell lymphoma" "" "true" + "diffuse scleroderma" "A variant of systemic scleroderma characterized by sclerosis of the skin, Raynaud phenomenon, and organ involvement, including pulmonary fibrosis, renal disease, and gastrointestinal tract involvement." "" + "dilated cardiomyopathy" "Cardiomyopathy which is characterized by dilation and contractile dysfunction of the left and right ventricles. It may be idiopathic, or it may result from a myocardial infarction, myocardial infection, or alcohol abuse. It is a cause of congestive heart failure." "" + "obsolete ductal breast adenocarcinoma" "" "true" + "ductal breast carcinoma in situ" "A carcinoma entirely confined to the mammary ducts. It is also known as DCIS. There is no evidence of invasion of the basement membrane. Currently, it is classified into three categories: High-grade DCIS, intermediate-grade DCIS and low-grade DCIS. In this classification the DCIS grade is defined by a combination of nuclear grade, architectural growth pattern and presence of necrosis. The size of the lesion as well as the grade and the clearance margins play a major role in dictating the most appropriate therapy for DCIS." "" + "obsolete emphysema" "" "true" + "essential thrombocythemia" "A chronic myeloproliferative neoplasm that involves primarily the megakaryocytic lineage. It is characterized by sustained thrombocytosis in the blood, increased numbers of large, mature megakaryocytes in the bone marrow, and episodes of thrombosis and/or hemorrhage. (WHO, 2008)" "" + "fetal growth restriction" "A fetus that does not grow beyond the 10th percentile of conventionally accepted weight for gestational age." "" + "fibromatosis" "A poorly circumscribed neoplasm arising from the soft tissues. It is characterized by the presence of spindle-shaped fibroblasts and an infiltrative growth pattern." "" + "benign thyroid gland neoplasm" "A benign neoplasm arising from the thyroid gland." "" + "neuroblastic tumor" "A group of nervous system tumors which display neuronal differentiation. It includes tumors that are composed of immature round cells and tumors that display advanced differentiation and the formation of ganglion cells." "" + "mixed neuronal-glial tumor" "A group of central nervous system neoplasms with a variable amount of neuronal and, less consistently, glial differentiation. They occur at a low frequency and usually carry a favorable prognosis. Representative examples include dysplastic cerebellar gangliocytoma, desmoplastic infantile ganglioglioma, desmoplastic infantile astrocytoma, and dysembryoplastic neuroepithelial tumor. (Adapted from WHO)" "" + "sympathetic nervous system disease" "A disease or disorder that involves the sympathetic nervous system." "" + "differentiated thyroid carcinoma" "Differentiated thyroid carcinoma (DTC), also known as papillary or follicular thyroid carcinoma, is a slow-growing malignancy usually presenting in adults as an asymptomatic thyroid mass." "" + "thyroid gland adenocarcinoma" "An adenocarcinoma arising from the follicular cells of the thyroid gland. According to the degree of differentiation, it is classified either as differentiated carcinoma (extensive evidence of follicular cell differentiation), or poorly differentiated carcinoma (limited evidence of follicular cell differentiation)." "" + "gastric intestinal type adenocarcinoma" "An adenocarcinoma of the stomach arising on a background of intestinal metaplasia. Microscopically, it is characterized by a glandular pattern and it closely resembles a colonic adenocarcinoma. Grossly, it tends to be nodular, polypoid or ulcerated." "" + "obsolete genetic disorder" "" "true" + "hyperplasia" "An abnormal increase in the number of cells in an organ or a tissue with consequent enlargement." "" + "cancer or benign tumor" "Any disorder that features disrupted cell proliferation. Includes hyperplasia, neoplastic syndrome and isolated neoplasm diseases as well as precancerous conditions." "" + "hypertrophic cardiomyopathy" "A condition in which the myocardium is hypertrophied without an obvious cause. The hypertrophy is generally asymmetric and may be associated with obstruction of the ventricular outflow tract." "" + "infertility disorder" "Inability to conceive for at least one year after trying and having unprotected sex. Causes of female infertility include endometriosis, fallopian tubes obstruction, and polycystic ovary syndrome. Causes of male infertility include abnormal sperm production or function, blockage of the epididymis, blockage of the ejaculatory ducts, hypospadias, exposure to pesticides, and health related issues." "" + "pancreatic insulin-producing neuroendocrine tumor" "An insulin-producing neuroendocrine tumor arising from the beta cells of the pancreas. It may or may not be associated with inappropriate secretion of insulin and an associated clinical syndrome." "" + "intracranial hemorrhage" "Bleeding within the cranium." "" + "invasive ductal and lobular carcinoma" "An invasive ductal breast carcinoma associated with a lobular carcinomatous component. The lobular carcinomatous component may be in situ or invasive." "" + "mixed lobular and ductal breast carcinoma" "A breast carcinoma characterized by the presence of a lobular and a ductal component. The ductal component comprises less than 50 percent of the tumor." "" + "invasive lobular breast carcinoma" "An infiltrating lobular adenocarcinoma of the breast. The malignant cells lack cohesion and are arranged individually or in a linear manner (Indian files), or as narrow trabeculae within the stroma. The malignant cells are usually smaller than those of ductal carcinoma, are less pleomorphic, and have fewer mitotic figures." "" + "irritable bowel syndrome" "Irritable bowel syndrome (IBS) is a chronic functional condition of the lower gastrointestinal (GI) tract characterised by abdominal pain or discomfort and disordered bowel habit (diarrhoea, constipation, or fluctuation between the two)." "" + "obsolete juvenile dermatomyositis" "" "true" + "human herpesvirus 8-related tumor" "" + "Epstein-Barr virus-associated mesenchymal tumor" "" + "bone marrow neoplasm" "Neoplasms that affect the bone marrow. Such neoplasms may arise in the bone marrow (e.g. myeloid leukemias) or may involve the bone marrow as secondary, metastatic tumors (e.g. metastatic carcinomas to the bone marrow)." "" + "lymphoid hemopathy" "" + "medullary breast carcinoma" "An infiltrating breast carcinoma with a relatively favorable prognosis. It is an uncommon carcinoma, accounting for less than 1% of all infiltrating breast carcinomas. It is well circumscribed, with soft cut surface and often of considerable size. Microscopically, the predominant growth pattern is syncytial with broad anastomosing bands or sheets of malignant cells. The malignant cells are round with abundant cytoplasm and vesicular nuclei. The sheets of malignant cells are associated with a marked lymphoplasmacytic infiltrate. Glandular or tubular structures are absent." "" + "obsolete infectious meningitis" "" "true" + "mesothelial neoplasm" "A benign or malignant neoplasm arising from mesothelial cells. Mesothelial cells are the lining cells of the pleura and peritoneum. -- 2003" "" + "obsolete narcolepsy with cataplexy" "" "true" + "neoplastic disease or syndrome" "Either an isolated neoplasm or a syndrome with neoplasm as a major feature." "" + "vascular malformation" "A non-neoplastic disorder that is the result of defects of vascular morphogenesis." "" + "melanocytic nevus" "A neoplasm composed of melanocytes that usually appears as a dark spot on the skin." "" + "papillary cystic neoplasm" "A benign, malignant, or borderline neoplasm characterized by the presence of papillary mucinous, serous, or clear cell structures and cystic structures." "" + "phyllodes tumor" "A benign, borderline, or malignant fibroepithelial neoplasm arising from the breast and rarely the prostate gland. It may recur following resection. The recurrence rates are higher for borderline and malignant phyllodes tumors. In borderline and malignant phyllodes tumors metastases to distant anatomic sites can occur. The incidence of metastases is higher in malignant phyllodes tumors." "" + "portal hypertension" "Increased blood pressure in the portal venous system. It is most commonly caused by cirrhosis. Other causes include portal vein thrombosis, Budd-Chiari syndrome, and right heart failure. Complications include ascites, esophageal varices, encephalopathy, and splenomegaly." "" + "psoriasis" "An autoimmune condition characterized by red, well-delineated plaques with silvery scales that are usually on the extensor surfaces and scalp. They can occasionally present with these manifestations: pustules; erythema and scaling in intertriginous areas, and erythroderma, that are often distributed on extensor surfaces and scalp." "" + "pityriasis rosea" "A mild, self-limited skin disorder that is most commonly seen in children and young adults. It is characterized by an initial large round spot on the chest, abdomen, or back, often referred to as a herald patch, that is usually followed within a week by a distinctive pattern of similar but smaller papules on the torso, arms, and legs. There may also be itching, especially when overheated." "" + "myalgic encephalomeyelitis/chronic fatigue syndrome" "A medical condition characterized by long-term fatigue and other symptoms that limit a person's ability to carry out ordinary daily activities." "" + "benign conjunctival neoplasm" "Abnormal growth of the cells of the conjunctiva without malignant characteristics." "" + "benign neoplasm of cornea" "A benign neoplasm that involves the cornea." "" + "obsolete rheumatoid arthritis" "" "true" + "severe acute respiratory syndrome" "A viral respiratory infection caused by the SARS coronavirus. It is transmitted through close person-to-person contact. It is manifested with high fever, headache, dry cough and myalgias. It may progress to pneumonia and cause death." "" + "Orthocoronavirinae infectious disease" "Infectious disease causes by viruses in the subfamily Orthocoronavirinae (coronaviruses). In humans, coronaviruses cause respiratory tract infections that can be mild, such as some cases of the common cold (among other possible causes, predominantly rhinoviruses), and others that can be lethal, such as SARS, MERS, and COVID-19." "" + "stroke disorder" "A sudden loss of neurological function secondary to hemorrhage or ischemia in the brain parenchyma due to a vascular event." "" + "structural epilepsy" "Structural epilepsies are conceptualized as having a distinct structural brain abnormality that has been demonstrated to be associated with a substantially increased risk of epilepsy in appropriately designed studies. The structural brain abnormality can be acquired (such as due to stroke, trauma or infection) or may be of genetic origin; however, as we currently understand it, the structural brain abnormality is a separate disorder interposed between the acquired or genetic defect and the epilepsy." "" + "subarachnoid hemorrhage" "Intracranial hemorrhage into the subarachnoid space." "" + "autoimmune disease with skin involvement" "A hypersensitivity reaction type II disease that involves the skin of body." "True" + "scleroderma" "Scleroderma is a rare autoimmune connective tissue disorder characterized by abnormal hardening of the skin and, sometimes, other organs. It is classified into two main forms: localized scleroderma and systemic sclerosis (SSc), the latter comprising three subsets; diffuse cutaneous SSc (dcSSc), limited cutaneous SSc (lcSSc) and limited SSc (lSSc)." "" + "secondary glomerular disease" "Secondary glomerular diseases are conditions with glomerular pathology in which an underlying cause can be established." "" + "autoimmune cardiomyopathy" "An autoimmune form of cardiomyopathy." "" + "ulcerative colitis" "An inflammatory bowel disease involving the mucosal surface of the large intestine and rectum. It may present with an acute or slow onset and follows an intermittent or continuous course. Signs and symptoms include abdominal pain, diarrhea, fever, weight loss, and intestinal hemorrhage." "" + "undifferentiated (embryonal) sarcoma" "An aggressive malignant mesenchymal neoplasm that arises from the liver and usually occurs in older children. It is composed of immature spindle, stellate, polymorphous, and giant cells." "" + "aJCC grade 1 sarcoma" "Cancer cells are given a score of 1 to 3, with 1 being assigned when they look similar to normal cells and 3 being used when the cancer cells look very abnormal. Certain types of sarcoma are given a higher score automatically. See also NCIt:C9419 (Synonym of AJCC G1 Sarcoma)" "" + "benign lipomatous neoplasm" "A benign mesenchymal neoplasm composed of adipose (fatty) tissue. The most common representative of this category is the lipoma." "" + "obsolete hepatocellular adenoma" "" "true" + "viral disease or post-viral disorder" "A viral infectious disease that result from the presence and activity of a viral agent, or a disorder that follows infection with an viral agent but is distinct from the usual manifestations of the infection itself." "" + "viral sexually transmitted disease" "Viral diseases which are potentially transmitted or propagated by sexual conduct." "" + "lentivirus infection" "Virus diseases caused by the Lentivirus genus. They are multi-organ diseases characterized by long incubation periods and persistent infection." "" + "idiopathic cardiomyopathy" "A disease of the heart muscle or myocardium proper whose cause is unknown." "" + "pneumococcal infection" "Infections with bacteria of the species streptococcus pneumoniae." "" + "temporal lobe epilepsy" "A localization-related (focal) form of epilepsy characterized by recurrent seizures that arise from foci within the temporal lobe, most commonly from its mesial aspect. A wide variety of psychic phenomena may be associated, including illusions, hallucinations, dyscognitive states, and affective experiences. The majority of complex partial seizures (see epilepsy, complex partial) originate from the temporal lobes. Temporal lobe seizures may be classified by etiology as cryptogenic, familial, or symptomatic (i.e., related to an identified disease process or lesion). (From Adams et al., Principles of Neurology, 6th ed, p321)" "" + "Whipple disease" "A systemic infection caused by the Gram-positive bacterium Tropheryma whipplei. It affects the small intestine resulting in malabsorption. Other sites or systems affected by the infection are the joints, central nervous system, and the cardiovascular system." "" + "Aeromonas hydrophila infectious disease" "Aeromonas hydrophila infection is a bacterial disease caused by infection from the Aeromonas hydrophila bacteria." "" + "human granulocytic ehrlichiosis" "A tick-borne, infectious disease caused by Anaplasma phagocytophilum, an obligate intracellular bacterium that is typically transmitted to humans by ticks of the Ixodes ricinus species complex." "" + "anaplasmosis" "An disease or disorder caused by infection with Anaplasma." "" + "Bacillaceae infectious disease" "Infections with bacteria of the family bacillaceae." "" + "Drosophila C virus infection" "A virus infection induced by Drosophila C virus (DCV) which is a positive-sense RNA virus belonging to the Dicistroviridae family. This natural pathogen of the model organism Drosophila melanogaster is commonly used to investigate antiviral host-defense in flies, which involves both RNA interference and inducible responses." "" + "Enterococcus faecalis infection" "A bacterial infection induced by Enterococcus faecalis which is the most prevalent species (along with Enterococcus faecium) cultured from humans, accounting for more than 90% of clinical isolates. Enterococci are part of the normal intestinal flora of humans and animals. They have been long recognized as important human pathogens." "" + "Pectobacterium carotovorum infection" "A bacterial infection induced by Pectobacterium carotovorum which is is a bacterium of the family Enterobacteriaceae. This bacterius is a ubiquitous plant pathogen with a wide host range (carrot, potato, tomato, leafy greens, squash and other cucurbits, onion, green peppers, African violets etc.), able to cause disease in almost any plant tissue it invades. It is a very economically important pathogen in terms of postharvest losses, and a common cause of decay in stored fruits and vegetables. Decay caused by E. carotovora is often simply referred to as \"bacterial soft rot\" (BSR) though this may also be caused by other bacteria. Most plants or plant parts can resist invasion by the bacteria, unless some type of wound is present. High humidity and temperatures around 30°C favor development of decay. Mutants can be produced which are less virulent. Virulence factors include: pectinases, cellulases, (which degrade plant cell walls), and also proteases, lipases, xylanases and nucleases (along with the normal virulence factors for pathogens – Fe acquisition, LPS integrity, multiple global regulatory systems)." "" + "obsolete Hibiscus chlorotic ringspot virus infection" "" "true" + "infectious disease with peripheral neuropathy" "An infectious process affecting the peripheral nerves." "True" + "male infertility due to obstructive azoospermia" "True" + "borderline leprosy" "A form of leprosy in which there are clinical manifestations of both principal types (lepromatous and tuberculoid). The disease may shift toward one of these two polar or principal forms." "" + "tuberculoid leprosy" "A principal or polar form of leprosy in which the skin lesions are few and are sharply demarcated. Peripheral nerve involvement is pronounced and may be severe. Unlike lepromatous leprosy (leprosy, lepromatous), the lepromin test is positive. Tuberculoid leprosy is rarely a source of infection to others." "" + "lepromatous leprosy" "A chronic communicable infection which is a principal or polar form of leprosy. This disorder is caused by mycobacterium leprae and produces diffuse granulomatous skin lesions in the form of nodules, macules, or papules. The peripheral nerves are involved symmetrically and neural sequelae occur in the advanced stage." "" + "celiac disease" "An autoimmune genetic disorder with an unknown pattern of inheritance that primarily affects the digestive tract. It is caused by intolerance to dietary gluten. Consumption of gluten protein triggers an immune response which damages small intestinal villi and prevents adequate absorption of nutrients. Clinical signs include abdominal cramping, diarrhea or constipation and weight loss. If untreated, the clinical course may progress to malnutrition, anemia, osteoporosis and an increased risk of intestinal malignancies. However, the prognosis is favorable with successful avoidance of gluten in the diet." "" + "experimental autoimmune encephalomyelitis" "An autoimmune demyelinating disease of the central nervous system that is produced experimentally in animals by the injection of homogenized brain or spinal cord in Freund's adjuvant. Myelin basic protein appears to be the antigen that elicits the hypersensitivity immune response which is characterized by focal areas of lymphocyte and macrophage infiltration into the brain, associated with demyelination and destruction of the blood-brain barrier. Experimental allergic encephalomyelitis (EAE) is used as an animal model for demyelinating diseases of the human central nervous system such as multiple sclerosis." "" + "CNS demyelinating autoimmune disease" "Conditions characterized by loss or dysfunction of myelin (see myelin sheath) in the brain, spinal cord, or optic nerves secondary to autoimmune mediated processes. This may take the form of a humoral or cellular immune response directed toward myelin or oligodendroglia associated autoantigens." "" + "erythrocyte disease" "A disease or disorder that involves the erythrocyte." "" + "morbid obesity" "An excess of body weight, normally defined as an individual with a body mass index greater than 35 or a body weight greater than one hundred percent of ideal body weight." "" + "obesity disorder" "A disorder involving an excessive amount of body fat." "" + "Pseudomonas infection" "Infections with bacteria of the genus pseudomonas." "" + "Pseudomonas aeruginosa CF5 infection" "A Pseudomonas aeruginosa CF5 infection is a Pseudomonas infection of strain CF5." "" + "Pseudomonas aeruginosa infectious disease" "" + "Pseudomonas aeruginosa PA14 infection" "A Pseudomonas aeruginosa PA14 infection is a Pseudomonas infection of strain PA14." "" + "familial amyotrophic lateral sclerosis" "An instance of amyotrophic lateral sclerosis that is caused by an inherited modification of the individual's genome." "" + "sporadic amyotrophic lateral sclerosis" "Sporadic amyotrophic lateral sclerosis is a amyotrophic lateral sclerosis in which there is no known cause, such as no family history." "" + "post-traumatic stress disorder" "An anxiety disorder precipitated by an experience of intense fear or horror while exposed to a traumatic (especially life-threatening) event. The disorder is characterized by intrusive recurring thoughts or images of the traumatic event; avoidance of anything associated with the event; a state of hyperarousal and diminished emotional responsiveness. These symptoms are present for at least one month and the disorder is usually long-term." "" + "neurotic disorder" "A form of functional mental illness that manifests in distressed emotional reactions such as anxiety, obsessive thoughts, compulsive behaviors, or irrational fears." "" + "type 1 diabetes mellitus" "A chronic condition characterized by minimal or absent production of insulin by the pancreas." "" + "diabetic ketoacidosis" "The metabolic condition resulted from uncontrolled diabetes mellitus, in which the shift of acid-base status of the body toward the acid side because of loss of base or retention of acids other than carbonic acid is accompanied by the accumulation of ketone bodies in body tissues and fluids." "" + "pulmonary hypertension" "Increased pressure within the pulmonary circulation due to lung or heart disorder." "" + "age-related macular degeneration" "Age-related loss of vision in the central portion of the retina (macula), secondary to retinal degeneration." "" + "obsolete disease by anatomical system" "A disease that disrupts the functioning of an organ system." "" "true" + "hypopituitarism" "A condition of diminution or cessation of secretion of one or more hormones from the anterior pituitary gland. This may result from surgical or radiation ablation, non-secretory pituitary neoplasms, metastatic tumors, infarction, pituitary apoplexy, infiltrative or granulomatous processes, and other conditions." "" + "cirrhosis of liver" "A disorder characterized by replacement of the liver parenchyma with fibrous tissue and regenerative nodules. It is usually caused by alcoholism, hepatitis B, and hepatitis C. Complications include the development of ascites, esophageal varices, bleeding, and hepatic encephalopathy." "" + "obsolete coronary heart disease" "" "true" + "aortic aneurysm" "A ruptured aneurysm located in the wall of the proximal portion of the descending aorta proceeding from the arch of the aorta." "" + "human papilloma virus infection" "An infectious process caused by a human papillomavirus. This infection can cause abnormal tissue growth." "" + "obsolete influenza infection" "" "true" + "simian immunodeficiency virus infection" "An infection affecting monkeys, chimpanzees, and other non human primates caused by a HIV-like virus." "" + "osteoma" "A benign, well-circumscribed, bone-forming neoplasm predominantly composed of lamellar bone. It usually arises from the calvarial, facial, or jaw bones. It is usually asymptomatic but it may cause local swelling or obstruction of the paranasal sinuses. Asymptomatic cases have an indolent clinical course." "" + "obsolete chronic myeloproliferative disorder" "Chronic form of myeloproliferative neoplasm." "" "true" + "actinic keratosis" "A precancerous lesion of the skin composed of atypical keratinocytes. It is characterized by the presence of thick, scaly patches of skin. Several histologic variants have been described, including atrophic, acantholytic, and hyperkeratotic variants." "" + "acute hypotension" "Acute form of hypotension (disease)." "" + "aggressive insulitis" "Insulitis is an inflammatory infiltration of the islets of Langerhans found especially in young patients with recent onset type 1 diabetes." "" + "benign insulitis" "A benign form of insulitis which is an inflammation of the islets of Langerhans of the pancreas. The pancreas and in some cases the Pancreatic β-cells become infiltrated by polymorphonuclear leukocytes and infiltrated by mononuclear cells, leading to inflammation." "" + "osteoarthritis" "A noninflammatory degenerative joint disease occurring chiefly in older persons, characterised by degeneration of the articular cartilage, hypertrophy of bone at the margins and changes in the synovial membrane. It is accompanied by pain and stiffness, particularly after prolonged activity." "" + "parkinsonian disorder" "A group of disorders which feature impaired motor control characterized by bradykinesia, MUSCLE RIGIDITY; TREMOR; and postural instability. Parkinsonian diseases are generally divided into primary parkinsonism (see PARKINSON DISEASE), secondary parkinsonism (see PARKINSON DISEASE, SECONDARY) and inherited forms. These conditions are associated with dysfunction of dopaminergic or closely related motor integration neuronal pathways in the BASAL GANGLIA." "" + "chronic childhood arthritis" "An older, deprecated term that encompassed three major types of autoimmune or autoinflammatory arthritis in children: systemic-onset, pauciarticular, or polyarticular arthritis. The juvenile rheumatoid arthritis classification system has been replaced by the International League of Associations for Rheumatology (ILAR) juvenile idiopathic arthritis classification system." "" + "cocaine dependence" "A psychologically and socially impaired state, with or without physiological changes, that develops as a result of using cocaine and which leads to compulsive behaviors to acquire the substance." "" + "human herpesvirus 8 infection" "An infectious process caused by the human herpesvirus 8. This infection is associated with Kaposi sarcoma." "" + "iatrogenic Kaposi's sarcoma" "A Kaposi sarcoma that develops after organ transplantation or immunosuppressive treatment." "" + "iatrogenic" "A characteristic of a diseae which results from diagnostic and therapeutic procedures undertaken on a patient." "" + "nosocomial infection" "An infection acquired in a hospital or other healthcare setting." "" + "internal carotid artery stenosis" "Carotid stenosis is a narrowing or constriction of the inner surface (lumen) of the carotid artery, usually caused by atherosclerosis. The internal carotid artery supplies the brain. Plaque often builds up at that division, and causes a narrowing (stenosis). Pieces of plaque can break off and block the small arteries above in the brain, which causes a stroke. Plaque can also build up at the origin of the carotid artery at the aorta." "" + "macroglobulinemia" "Macroglobulinemia is the presence of increased levels of macroglobulins in the circulating blood. It is a Plasma cell dyscrasia, resembling leukemia, with cells of lymphocytic, plasmacytic, or intermediate morphology, which secrete a monoclonal immunoglobulin M component. There is diffuse infiltration by the malignant cells of the bone marrow and also, in many cases, of the spleen, liver, or lymph nodes. The circulating macroglobulin can produce symptoms of hyperviscosity syndrome: weakness, fatigue, bleeding disorders, and visual disturbances. Peak incidence of macroglobulinemia is in the sixth and seventh decades of life." "" + "metastatic neoplasm" "A tumor that has spread from its original (primary) site of growth to another site, close to or distant from the primary site. Metastasis is characteristic of advanced malignancies, but in rare instances can be seen in neoplasms lacking malignant morphology." "" + "prostate intraepithelial neoplasia" "A neoplastic proliferation of the epithelial cells that line the acini and the ducts of the prostate gland. The neoplastic epithelial cells are confined within the acini and the ducts and they do not invade the surrounding prostatic stroma. Morphologically, it is classified as low or high grade." "" + "intraepithelial neoplasia" "A precancerous neoplastic process that affects the squamous, glandular, or transitional cell epithelium without evidence of invasion. According to the degree of nuclear atypia, number of mitotic figures, and presence of architectural distortion, it is classified as low grade (mild dysplasia) or high grade (moderate or severe dysplasia)." "" + "Rotavirus infection" "Infection with any of the rotaviruses. Specific infections include human infantile diarrhea, neonatal calf diarrhea, and epidemic diarrhea of infant mice." "" + "Reoviridae infectious disease" "Infections produced by reoviruses, general or unspecified." "" + "septic peritonitis" "Septic peritonitis is an inflammatory condition of the peritoneum that occurs secondary to microbial contamination. This clinically important condition has a wide variety of clinical courses as well as high morbidity and mortality due to secondary multiorgan dysfunction. This article reviews the etiology and pathophysiology of this condition and its diagnosis in small animals; a companion article addresses treatment and prognosis." "" + "obsolete teratozoospermia" "Presence of structurally anomalous spermatozoa in the semen; malformations include the physical bending of the sperm to produce kinks or bends" "" "true" + "vulvar intraepithelial neoplasia" "Intraepithelial neoplasia of the vulvar squamous epithelium. There is no evidence of invasion. This category includes vulvar high grade squamous intraepithelial lesion and vulvar intraepithelial neoplasia, differentiated type." "" + "obsolete peripartum cardiomyopathy" "" "true" + "viral dilated cardiomyopathy" "An dilated cardiomyopathy caused by infection with Viruses." "" + "restrictive cardiomyopathy" "A type of heart disorder referring to the inability of the ventricles to fill with blood because the myocardium (heart muscle) stiffens and looses its flexibility. Causes include replacement of the myocardium with scar tissue, abnormal cellular infiltration of the myocardium, or deposition of a substance (e.g., amyloid) in the myocardium." "" + "atopic IgE-mediated allergic disorder" "A genetic predisposition to form IgE antibodies in response to exposure to allergens and therefore, for the development of immediate (type I) hypersensitivity and atopic conditions, such as allergic rhinitis; bronchial asthma, atopic dermatitis, and food allergy. Mutations of specific alleles on the long arm of chromosome 5 have been associated with higher levels of IL-4 and IgE and are known as IL-4 promoter polymorphisms." "" + "ischemia reperfusion injury" "Adverse functional, metabolic, or structural changes in ischemic tissues resulting from the restoration of blood flow to the tissue (reperfusion), including swelling; hemorrhage; necrosis; and damage from free radicals. The most common instance is myocardial reperfusion injury." "" + "primary antiphospholipid syndrome" "An antiphospholipid syndrome that occurs as an isolated disorder." "" + "antiphospholipid syndrome" "A disorder caused by the presence of autoantibodies directed against phospholipids, causing a hypercoaguable state, which may result in blood clots, stroke, heart attack, and in women, significant pregnancy-related complications, including miscarriage and still birth. The syndrome is often associated with other autoimmune disorders, most commonly lupus erythematosus, and infections, including syphilis and Lyme disease." "" + "obsolete systemic lupus erythematosus" "" "true" + "amelanotic skin melanoma" "A amelanotic melanoma that involves the zone of skin." "" + "obsolete cutaneous T-cell lymphoma" "" "true" + "malignant ovarian serous tumor" "An invasive malignant neoplasm that arises from the ovary and is characterized by the presence of malignant epithelial cells that, in well differentiated tumors, resemble the epithelium of the fallopian tube or, in poorly differentiated tumors, show anaplastic features and marked nuclear atypia. It includes serous adenocarcinoma and serous adenocarcinofibroma." "" + "muscular tumor" "" + "familial cardiomyopathy" "An instance of cardiomyopathy that is caused by an inherited modification of the individual's genome." "" + "collecting duct carcinoma" "A carcinoma that arises from epithelial cells of the collecting duct of renal tubule" "" + "obsolete acute megakaryoblastic leukaemia" "" "true" + "acute myeloid leukemia with minimal differentiation" "An acute myeloid leukemia (AML) in which the blasts do not show evidence of myeloid differentiation by morphology and conventional cytochemistry. (WHO, 2001)" "" + "acute myeloid leukemia by FAB classification" "Acute myeloid leukemias that do not fulfill the criteria for inclusion in the group of acute myeloid leukemias which have recurrent genetic abnormalities or myelodysplastic changes, or are therapy-related. This category includes entities classified according to the French-American-British classification scheme." "" + "acute myeloblastic leukemia without maturation" "An acute myeloid leukemia (AML) characterized by blasts without evidence of maturation to more mature neutrophils. (WHO, 2001)" "" + "obsolete acute myeloblastic leukemia with maturation" "" "true" + "obsolete acute basophilic leukemia" "" "true" + "obsolete anaplastic large cell lymphoma" "" "true" + "cellulitis" "Inflammation of the dermis and subcutaneous tissues caused by a bacterial infection. Symptoms include erythema, edema, and pain to the affected area." "" + "vesiculobullous skin disease" "Skin diseases characterized by local or general distributions of blisters. They are classified according to the site and mode of blister formation. Lesions can appear spontaneously or be precipitated by infection, trauma, or sunlight. Etiologies include immunologic and genetic factors. (From Scientific American Medicine, 1990)" "" + "hepatitis C virus infection" "A viral infection caused by the hepatitis C virus." "" + "obsolete polymyositis" "" "true" + "obsolete pleomorphic liposarcoma" "" "true" + "round cell liposarcoma" "A poorly differentiated liposarcoma, characterized by the presence of solid sheets of primitive round mesenchymal cells and the absence of myxoid stroma." "" + "myxoid/round cell liposarcoma" "Myxoid/round cell liposarcoma (MRCLS) is a type of liposarcoma (LS) mostly located in the limbs, with a variable behavior depending on the histological subtype. Both myxoid and round cell are distinct histological subtypes of LS." "" + "obsolete dedifferentiated liposarcoma" "" "true" + "obsolete adrenocortical carcinoma" "" "true" + "empyema" "An accumulation of pus in a body cavity, usually the pleural space." "" + "obsolete Cushing syndrome" "" "true" + "obsolete testicular seminoma" "" "true" + "" "true" + "placental villitis" "Inflammatory process that involves the chorionic villi (villitis) of the placenta." "" + "obsolete pauciarticular juvenile rheumatoid arthritis" "A type of juvenile idiopathic arthritis affecting which is a form of arthritis which affect children." "" "true" + "high output heart failure" "High-output heart failure is a heart condition that occurs when the cardiac output is higher than normal." "" + "symptomatic heart failure" "A heart failure which results in symptoms such as shortness of breath, fatigue, inability to exerciseb& etc" "" + "mild heart failure" "Heart failure characterized by mild symptoms (mild shortness of breath and/or angina) and slight limitation during ordinary activity." "" + "moderate heart failure" "Heart failure characterized by marked limitation in activity due to symptoms, even during less-than-ordinary activity, e.g. walking short distances (20b100 m). Patients with moderate heart failure are comfortable only at rest." "" + "advanced heart failure" "Patients with advanced heart failure have severe limitations, experiences symptoms even while at rest and are mostly bedbound patients." "" + "autism spectrum disorder" "A spectrum of developmental disorders that includes autism, and Asperger syndrome. Signs and symptoms include poor communication skills, defective social interactions, and repetitive behaviors." "" + "Asperger syndrome" "A disorder most often diagnosed in the pediatric years in which the individual displays marked impairment in social interaction and a repetitive, stereotyped pattern of behavior. The individual, however, displays no delay in language or cognitive development, which differentiates Asperger Syndrome from autism." "" + "autism" "Persistent deficits in social interaction and communication and interaction as well as a markedly restricted repertoire of activity and interest as well as repetitive patterns of behavior." "" + "obsolete pervasive developmental disorder - not otherwise specified" "" "true" + "central nervous system cyst" "A congenital or acquired cyst that is present in the central nervous system." "" + "obsolete unipolar depression" "" "true" + "obsolete Hashimoto's thyroiditis" "" "true" + "obsolete motor neuron disease" "" "true" + "refractory anemia" "A myelodysplastic syndrome characterized mainly by dysplasia of the erythroid series. Refractory anemia is uncommon. It is primarily a disease of older adults. The median survival exceeds 5 years. (WHO, 2001)" "" + "refractory cytopenia with multilineage dysplasia" "Refractory cytopenias with multilineage dysplasia (RCMD) is a frequent subtype of myelodysplastic syndrome (MDS) characterized by 1 or more cytopenias in the peripheral blood and dysplasia in 2 or more myeloid lineages." "" + "obsolete refractory anemia with excess blasts" "" "true" + "" "true" + "acquired idiopathic sideroblastic anemia" "Acquired idiopathic sideroblastic anaemia is one of a group of disorders known as the myelodysplastic syndromes (MDS) characterised by ineffective haemopoiesis affecting one or more blood cell lineages (myeloid, erythroid or megakaryocytic) leading to peripheral blood cytopenias and an increased risk of developing leukaemia. Acquired idiopathic sideroblastic anaemia is now more commonly referred to as refractory anaemia with ringed sideroblasts or the acronym RARS." "" + "migraine disorder" "A common, severe type of vascular headache often associated with increased sympathetic activity, resulting in nausea, vomiting, and light sensitivity." "" + "hypnic headache" "Conditions in which the primary symptom is headache and the headache cannot be attributed to any known causes." "" + "cutaneous lupus erythematosus" "An autoimmune disorder that manifests as different lupus-specific skin disorders; it can occur with systemic lupus erythematosus, or as a singular disease." "" + "multiple sclerosis" "A progressive autoimmune disorder affecting the central nervous system resulting in demyelination. Patients develop physical and cognitive impairments that correspond with the affected nerve fibers." "" + "obsolete kidney stone" "" "true" + "oral cavity neoplasm" "A neoplasm (disease) that involves the oral cavity." "" + "developmental disability" "Disorders in which there is a delay in development based on that expected for a given age level or stage of development. These impairments or disabilities originate before age 18, may be expected to continue indefinitely, and constitute a substantial impairment. Biological and nonbiological factors are involved in these disorders. (From American Psychiatric Glossary, 6th ed)" "" + "intestinal polyp" "Discrete abnormal tissue masses that protrude into the lumen of the intestine. A polyp is attached to the intestinal wall either by a stalk, pedunculus, or by a broad base." "" + "brain aneurysm" "A congenital or acquired aneurysm within the cranium." "" + "cerebral arterial disease" "Pathological conditions of intracranial arteries supplying the cerebrum. These diseases often are due to abnormalities or pathological processes in the anterior cerebral artery; middle cerebral artery; and posterior cerebral artery." "" + "flatfoot" "An anatomic deformity in which the arch of the foot collapses, resulting in the entire sole of the foot coming into complete or near-complete contact with the ground." "" + "intermittent vascular claudication" "A symptom complex characterized by pain and weakness in skeletal muscle group associated with exercise, such as leg pain and weakness brought on by walking. Such muscle limpness disappears after a brief rest and is often relates to arterial stenosis; muscle ischemia; and accumulation of lactate." "" + "urethritis" "Inflammation of the urethra." "" + "attention deficit hyperactivity disorder, inattentive type" "A mental disorder characterized by inattention, easy distraction, careless mistakes and avoidance of tasks that require sustained mental focus. These behaviors can lead to maladaptive consequences in the affected individual's life." "" + "attention deficit-hyperactivity disorder" "A disorder characterized by a marked pattern of inattention and/or hyperactivity-impulsivity that is inconsistent with developmental level and clearly interferes with functioning in at least two settings (e.g. at home and at school). When present, the symptoms of hyperactivity are most often present before the age of 7 years. There are three recognized presentations or subtypes from most to least common: combined type, inattentive/distractible type, hyperactive/impulsive type." "" + "obsolete epistaxis" "" "true" + "ankylosing spondylitis" "An autoimmune chronic inflammatory disorder characterized by inflammation in the vertebral joints of the spine and sacroiliac joints. It predominantly affects young males. Patients present with stiffness and pain in the spine." "" + "vertebral joint disease" "A disease that involves the intervertebral joint." "" + "contracture" "Prolonged shortening of the muscle or other soft tissue around a joint, preventing movement of the joint." "" + "ciliopathy" "A genetic disorder of the cellular cilia or the cilia anchoring structures, the basal bodies, or of ciliary function." "" + "spinal fracture" "Traumatic or pathological injury to the spine in which the continuity of a vertebral bone is broken. Symptoms include back pain and difficulty bending and twisting." "" + "bone fracture" "Breaks in bones." "" + "spinal injury" "A injury that involves the vertebral column." "" + "atrial flutter" "A disorder characterized by an electrocardiographic finding of an organized, regular atrial rhythm with atrial rate of 240-340 beats per minute. Multiple P waves typically appear in the inferior leads in a saw tooth-like pattern between the QRS complexes. (CDISC)" "" + "atrial tachycardia" "A disorder characterized by an electrocardiographic finding of an organized, regular atrial rhythm with atrial rate between 101 and 240 beats per minute. The P wave morphology must be distinct from the sinus P wave morphology. (CDISC)" "" + "pouchitis" "Acute inflammation in the intestinal mucosa of the continent ileal reservoir (or pouch) in patients who have undergone ileostomy and restorative proctocolectomy (proctocolectomy, restorative)." "" + "enterocolitis" "An inflammatory process affecting the small intestine and colon. Causes include viruses, bacteria, radiation, and antibiotics use." "" + "relapsing-remitting multiple sclerosis" "The most common clinical variant of multiple sclerosis, characterized by recurrent acute exacerbations of neurologic dysfunction followed by partial or complete recovery. Common clinical manifestations include loss of visual (see optic neuritis), motor, sensory, or bladder function. Acute episodes of demyelination may occur at any site in the central nervous system, and commonly involve the optic nerves, spinal cord, brain stem, and cerebellum. (Adams et al., Principles of Neurology, 6th ed, pp903-914)" "" + "bacterial vaginosis" "Infection caused by bacterial overgrowth in the vagina. Most affected women are asymptomatic. When symptoms occur, they include foul-smelling vaginal discharge, vaginal itching, and burning. Risk factors include sexual activity with multiple partners and the use of vaginal douches and intrauterine devices. Up to a third of cases resolve without treatment. Antibiotic treatment is recommended when symptoms are present and for women that are pregnant at the time of infection." "" + "Bifidobacteriales infectious disease" "Infections with BACTERIA of the order Bifidobacteriales. This includes infections in the genera BIFIDOBACTERIUM and GARDNERELLA, in the family Bifidobacteriaceae." "" + "infective vaginitis" "An infectious process affecting the vagina. Symptoms include pain and purulent discharge." "" + "obsolete fatty liver" "" "true" + "humerus fracture" "A traumatic or pathologic injury to the humerus in which the continuity of the humerus is broken." "" + "tibia fracture" "Traumatic or pathological injury to the tibia in which the continuity of the bone is broken." "" + "Fuchs' endothelial dystrophy" "Fuchs endothelial corneal dystrophy (FECD) is the most frequent form of posterior corneal dystrophy and is characterized by excrescences on a thickened Descemet membrane (corneal guttae), generalized corneal edema, with gradually decreased visual acuity." "" + "posterior corneal dystrophy" "Posterior corneal dystrophies refers to a group of rare genetically determined corneal dystrophies (CDs) characterized by lesions affecting the corneal endothelium and Descemet membrane, and variable effects on vision depending on the type of dystrophy." "" + "ulna fracture" "Fractures of the larger bone of the forearm." "" + "sexually transmitted disease" "A Disease due to or propagated by sexual contact." "" + "seasonal allergic rhinitis" "Allergic rhinitis caused by outdoor allergens." "" + "allergic rhinitis" "Inflammation of the nasal mucous membranes caused by an IgE-mediated response to external allergens. The inflammation may also involve the mucous membranes of the sinuses, eyes, middle ear, and pharynx. Symptoms include sneezing, nasal congestion, rhinorrhea, and itching. It may lead to fatigue, drowsiness, and malaise thus causing impairment of the quality of life." "" + "radius fracture" "Traumatic or pathological injury to the radius bone in which the continuity of the bone is broken." "" + "sunburn" "An inflammatory reaction from ultraviolet radiation characterized by transient redness, tenderness and occasional blistering." "" + "hip fracture" "Traumatic or pathological injury to the hip in which the continuity of either the femoral head, femoral neck, intertrochanteric or subtrochanteric regions is broken. Symptoms include pain in the hip or groin, bruising and swelling in and around the hip area. The injured hip is turned outward and the leg appears shorter on that side." "" + "obsolete vascular sarcoma" "" "true" + "obsolete angiosarcoma" "" "true" + "obsolete acrocephalosyndactylia" "" "true" + "" "true" + "growth hormone-producing pituitary gland adenoma" "An adenoma of the anterior lobe of the pituitary gland that produces growth hormone. The vast majority of cases are hormonally functioning and are associated with either gigantism or acromegaly." "" + "hereditary nephritis" "A group of inherited conditions characterized initially by hematuria and slowly progressing to renal insufficiency. The most common form is the Alport syndrome (hereditary nephritis with hearing loss) which is caused by mutations in genes for type IV collagen and defective glomerular basement membrane." "" + "obsolete neuropathy" "" "true" + "androgenetic alopecia" "" + "endocrine alopecia" "" + "basal cell carcinoma" "A carcinoma involving the basal cells." "" + "IgA glomerulonephritis" "Inflammation of a specific segment of glomeruli within the kidney." "" + "obsolete viral human hepatitis" "" "true" + "hepatitis B virus infection" "A viral infection caused by the hepatitis B virus." "" + "Hepadnaviridae infectious disease" "Virus diseases caused by the hepadnaviridae." "" + "hypospadias" "Hypospadias is the displacement of the urethral meatus on the ventrum of the penis. This abnormality is associated with a varyingly bent, twisted penis and opened dorsal prepuce." "" + "non-syndromic urogenital tract malformation of male" "A non-syndromic urogenital tract malformation that involves the male organism." "" + "gallstones" "Solid crystalline precipitates in the biliary tract, usually formed in the gallbladder, resulting in the condition of cholelithiasis. Gallstones, derived from the bile, consist mainly of calcium, cholesterol, or bilirubin." "" + "hypertriglyceridemia" "A laboratory test result indicating elevated triglyceride concentration in the blood." "" + "keloid" "An irregularly shaped, elevated mark on the skin caused by deposits of excessive amounts of collagen during wound healing. It extends beyond the original boundaries of the wound and may enlarge progressively." "" + "otosclerosis" "Formation of spongy bone in the labyrinth capsule which can progress toward the stapes (stapedial fixation) or anteriorly toward the cochlea leading to conductive, sensorineural, or mixed hearing loss. Several genes are associated with familial otosclerosis with varied clinical signs." "" + "inherited auditory system disease" "An instance of auditory system disease that is caused by an inherited modification of the individual's genome." "" + "abdominal aortic aneurysm" "Enlargement and ballooning of the vessel that supplies arterial blood to the abdomen, pelvis and legs." "" + "anorexia nervosa" "A disorder most often seen in adolescent females characterized by a refusal to maintain a minimally normal body weight, an intense fear of gaining weight, a disturbance in body image, and, in postmenarcheal females, the development of amenorrhea." "" + "conduct disorder" "A disorder diagnosed in childhood or adolescence age group characterized by aggressive behavior, deceitfulness, destruction of property or violation of rules that is persistent and repetitive, and within a one year period." "" + "obsolete marijuana dependence" "The excessive use of marijuana with associated psychological symptoms and impairment in social or occupational functioning." "" "true" + "chronic hepatitis C virus infection" "Chronic form of hepatitis C infection." "" + "coronary restenosis" "Recurrent narrowing or constriction of a coronary artery following surgical procedures performed to alleviate a prior obstruction." "" + "coronary stenosis" "Narrowing of the coronary artery lumen diameter." "" + "coronary vasospasm" "Sudden coronary artery smooth muscle contraction leading to lumen constriction and decreased blood flow." "" + "Creutzfeldt Jacob disease" "A rare transmittable degenerative disorder of the brain caused by prions. Morphologically it is characterized by spongiform degeneration of the cerebral and cerebellar cortex. Signs and symptoms include sleep disturbances, personality changes, aphasia, ataxia, muscle atrophy and weakness, visual loss, and myoclonus. It usually leads to death within a year from the onset of the disease." "" + "viral hemorrhagic fever" "A viral infectious disease caused by RNA viruses in the Arenaviridae, Bunyaviridae, Filoviridae, or Flaviviridae family, and characterized by a severe multisystem syndrome, with damage to the vascular system and hemorrhaging." "" + "obsolete Dupuytren contracture" "" "true" + "eosinophilic esophagitis" "Eosinophilic esophagitis (EoE) is a chronic, allergic disease of the esophagus characterized clinically by symptoms of esophageal dysfunction (including vomiting, dysphagia, feeding disorders, food impaction and abdominal pain) which persist after treatment with proton pump inhibitors (PPIs)." "" + "eosinophilic gastrointestinal disease" "" + "focal segmental glomerulosclerosis" "A renal disorder characterized by sclerotic lesions in the glomeruli. Causes include drugs, viruses, and malignancies (lymphomas), or it may be idiopathic. It presents with asymptomatic proteinuria or nephritic syndrome and it may lead to renal failure." "" + "Graves disease" "Graves' disease is an autoimmune disorder that leads to overactivity of the thyroid gland (hyperthyroidism).It is caused by an abnormal immune system response that causes the thyroid gland to produce too much thyroid hormones. Graves disease is the most common cause of hyperthyroidism andoccurs mostoften in women over age 20. However, the disorder may occur at any age and may affect males as well.Treatmentmayinclude radioiodine therapy, antithyroid drugs, and/or thyroid surgery." "" + "hearing loss disorder" "A partial or complete loss of hearing in one or both ears. It is classified as conductive, sensory, or central." "" + "hearing disorder" "A disorder characterized by the partial or complete loss of the ability to detect sounds due to damage to the ear structures or inability of the brain to properly interpret or process the auditory signals it receives from the anatomic structures of the ear." "" + "chronic hepatitis B virus infection" "Chronic form of hepatitis B infection." "" + "heroin dependence" "Physical and psychological dependence on the drug heroin." "" + "opiate dependence" "Disorders related or resulting from abuse or mis-use of opioids." "" + "obsolete obsessive-compulsive disorder" "" "true" + "carcinoid tumor" "A slow growing neuroendocrine tumor, composed of uniform, round, or polygonal cells having monotonous, centrally located nuclei and small nucleoli, infrequent mitoses, and no necrosis. The tumor may show a variety of patterns, such as solid, trabecular, and acinar. Electron microscopy shows small secretory granules. Immunohistochemical studies reveal NSE, as well as chromogranin immunoreactivity. Malignant histology (cellular pleomorphism, hyperchromatic nuclei, prominent nucleoli, necrosis, and mitoses) can occasionally be seen. Such cases may have an aggressive clinical course. Gastrointestinal tract and lung are common sites of involvement." "" + "obsolete interstitial lung disease" "" "true" + "meningococcal infection" "Infections with bacteria of the species neisseria meningitidis." "" + "nasopharyngeal neoplasm" "A benign or malignant neoplasm affecting the nasopharynx. Representative examples of benign neoplasms include angiofibroma and squamous papilloma. Representative examples of malignant neoplasms include keratinizing squamous cell carcinoma and nonkeratinizing carcinoma." "" + "pharynx neoplasm" "A neoplasm (disease) that involves the pharynx." "" + "membranous glomerulonephritis" "A slowly progressive inflammation of the glomeruli characterized by immune complex deposits at the glomerular basement membrane, resulting in a thickened membrane, and nephrotic syndrome." "" + "obsolete neuromyelitis optica" "" "true" + "obsolete rare rheumatologic disease" "Any of the forms of rheumatologic disorder that have a rare incidence." "True" "true" + "bone Paget disease" "A disease of bone that initially results in the excessive resorption of bone (by osteoclasts) followed by the replacement of normal bone marrow with vascular and fibrous tissue." "" + "panic disorder" "An anxiety disorder characterized by multiple unexpected panic attacks with persistent concern of recurring attacks. Panic disorder may or may not be accompanied by agoraphobia." "" + "peripheral arterial disease" "A disorder of the arteries supplying the upper and lower extremity and the visceral organs. This includes the mesenteric arteries, the renal arteries and the aorta and excludes cerebrovascular arterial disease. Patients experience cramping and pain usually in the calves and thighs while walking. The symptoms subside with rest." "" + "primary biliary cholangitis" "Primary biliary cholangitis (PBC) is a chronic and slowly progressive cholestatic liver disease of autoimmune etiology characterized by injury of the intrahepatic bile ducts that may eventually lead to liver failure." "" + "cirrhosis, familial" "Cirrhosis in which no causative agent can be identified." "" + "obsolete sclerosing cholangitis" "" "true" + "obsolete cardiac arrhythmia" "" "true" + "restless legs syndrome" "A condition that occurs while resting or lying in bed; it is characterized by an irresistible urgency to move the legs to obtain relief from a strange and uncomfortable sensation in the legs." "" + "gout" "A condition characterized by painful swelling of the joints, which is caused by deposition of urate crystals." "" + "thoracic aortic aneurysm" "An aneurysm formed in the wall of the proximal portion of the descending aorta proceeding from the arch of the aorta." "" + "upper aerodigestive tract neoplasm" "Soft tissue tumors or cancer arising from the mucosal surfaces of the lip; oral cavity; pharynx; larynx; and cervical esophagus. Other sites included are the nose and paranasal sinuses; salivary glands; thyroid gland and parathyroid glands; and melanoma and non-melanoma skin cancers of the head and neck. (from Holland et al., Cancer Medicine, 4th ed, p1651)" "" + "venous thromboembolism" "Occlusion of the lumen of a vein by a thrombus that has migrated from a distal site via the blood stream." "" + "obsolete ventricular fibrillation" "" "true" + "obsolete neonatal systemic lupus erthematosus" "" "true" + "childhood onset asthma" "Asthma that starts in childhood." "" + "gestational diabetes" "Carbohydrate intolerance first diagnosed during pregnancy." "" + "childhood eosinophilic esophagitis" "An eosinophilic esophagitis that starts in childhood." "" + "diabetes mellitus type 2 associated cataract" "Diabetic cataracts are thought to be caused by hyperglycemia associated with disturbed glucose metabolism" "" + "obsolete variant Creutzfeld Jacob disease" "" "true" + "acute graft vs. host disease" "Graft-versus-host disease (GVHD) is a common complication following an allogeneic tissue transplant. It is commonly associated with stem cell or bone marrow transplant but the term also applies to other forms of tissue graft." "" + "graft versus host disease" "Acute graft-versus-host disease (GVHD) occurs after allogeneic hematopoietic stem cell transplant and is a reaction of donor immune cells against host tissues. Activated donor T cells damage host epithelial cells after an inflammatory cascade that begins with the preparative regimen." "" + "duodenal ulcer" "An ulcer in the duodenal wall." "" + "cystic fibrosis associated meconium ileus" "Cystic fibrosis associated meconium ileum is a thickening and congestion of the meconium in the ileum in newborns, often the first sign of cystic fibrosis. In cystic fibrosis, the meconium can form a bituminous black-green mechanical obstruction in a segment of the ileum. Beyond this there may be a few separate grey-white globular pellets. Below this level, the bowel is a narrow and empty micro-colon. Above the level of the obstruction, there are several loops of hypertrophied bowel distended with fluid. No meconium is passed, and abdominal distension and vomiting appear soon after birth. About 20% of cases of cystic fibrosis present with meconium ileus, while approximately 20% of one series of cases of meconium ileus did not have cystic fibrosis. The presence of meconium ileus is not related to the severity of the cystic fibrosis." "" + "meconium ileus" "Small intestinal obstruction that results from the impaction of thick meconium in the distal small intestine." "" + "perinatal disease" "A condition affecting an unborn or newly born individual, where the perinatal period is defined in humans as commencing at 22 completed weeks (154 days) of gestation and ending seven completed days after birth. Other, broader definitions of perinatal period cover five months before birth to one month after birth." "" + "cystic fibrosis" "Cystic fibrosis (CF) is a genetic disorder characterized by the production of sweat with a high salt content and mucus secretions with an abnormal viscosity." "" + "treatment-refractory schizophrenia" "Schizophrenia which does not respond to commonly used treatments." "" + "obsolete acute lung injury" "" "true" + "osteoarthritis, knee" "Noninflammatory degenerative disease of the knee joint consisting of three large categories: conditions that block normal synchronous movement, conditions that produce abnormal pathways of motion, and conditions that cause stress concentration resulting in changes to articular cartilage. (Crenshaw, Campbell's Operative Orthopaedics, 8th ed, p2019)" "" + "wet macular degeneration" "A form of RETINAL degeneration in which abnormal CHOROIDAL NEOVASCULARIZATION occurs under the RETINA and MACULA LUTEA, causing bleeding and leaking of fluid. This leads to bulging and or lifting of the macula and the distortion or destruction of central vision." "" + "non-compaction cardiomyopathy" "Left ventricular non-compaction (LVNC) is characterized by prominent left ventricular trabeculae and deep inter-trabecular recesses. The myocardial wall is often thickened with a thin, compacted epicardial layer and a thickened endocardial layer. In some patients, LVNC is associated with left ventricular dilatation and systolic dysfunction, which can be transient in neonates." "" + "metamphetamine dependence" "A drug dependence that is a psychological dependency on the regular use of metamphetamine." "" + "obsolete infantile hypertrophic pyloric stenosis" "" "true" + "obsolete nodular sclerosis Hodgkin lymphoma" "A distinct, highly heritable Hodgkin lymphoma subtype." "" "true" + "obsolete pelvic organ prolapse" "" "true" + "elephantiasis" "Enlargement of an area of the body due to obstruction within the lymphatic system and the resulting accumulation of lymph." "" + "lymphedema" "Excess fluid collection in tissues, causing swelling. It is the result of obstruction of lymphatic vessels or lymph nodes." "" + "podoconiosis" "A disease of the lymphatic vessels of the lower extremities that is caused by chronic exposure to irritant soils." "" + "MRI defined brain infarct" "An infarct detected by MRI and not determined to be clinically significant" "" + "obsolete vasuclar dementia" "" "true" + "obsolete pemphigus vulgaris" "" "true" + "early onset hypertension" "A form of hypertension with early onset relative to normal range for a given population." "" + "obsolete toxic epidermal necrolysis" "" "true" + "alcohol and nicotine codependence" "A drug dependence that is the physiological result of being addicted to alcohol and nicotine." "" + "alcohol withdrawal" "" + "substance withdrawal syndrome" "A substance-specific organic brain syndrome that follows the discontinuation of administration or use, or reduction in intake of an addictive substance, e.g. opioids, barbiturates and alcohol; amphetamines or similarly acting sympathomimetics; cocaine; nicotine; sedatives, hypnotics, or anxiolytics. Syndrome manifests with diverse, often painful physical and psychological symptoms, which include but not limited to intense drug craving, anxiety, depression, insomnia, nausea, perspiration, body aches, tremors, hallucinations, and convulsions." "" + "skin sensitivity to sun" "The response of human skin to sun exposure." "" + "photosensitivity disease" "Abnormal responses to sunlight or artificial light due to extreme reactivity of light-absorbing molecules in tissues. It refers almost exclusively to skin photosensitivity, including sunburn, reactions due to repeated prolonged exposure in the absence of photosensitizing factors, and reactions requiring photosensitizing factors such as photosensitizing agents and certain diseases. With restricted reference to skin tissue, it does not include photosensitivity of the eye to light, as in photophobia or photosensitive epilepsy." "" + "anti-neutrophil antibody associated vasculitis" "Group of systemic vasculitis with a strong association with ANCA. The disorders are characterized by necrotizing inflammation of small and medium size vessels, with little or no immune-complex deposits in vessel walls." "" + "postoperative ventricular dysfunction" "Postoperative ventricular dysfunction (VnD) occurs in 9-20% of coronary artery bypass graft (CABG) surgical patients and is associated with increased postoperative morbidity and mortality." "" + "testicular dysgenesis syndrome" "A syndrome comprising testicular germ cell cancer, cryptorchidism and some cases of hypospadias and male infertility with impaired development of the testis." "" + "metastatic malignant neoplasm in the lymph nodes" "The spread of a malignant neoplasm to the lymph nodes." "" + "familial hypercholesterolemia" "An inheritable form of hyperlipidemia, in which there are excess lipids in the blood." "" + "hyperlipoproteinemia" "An elevated concentration of lipoproteins." "" + "obsolete type 1 diabetes nephropathy" "" "true" + "obsolete type 2 diabetes nephropathy" "" "true" + "obsolete leishmaniasis" "" "true" + "visceral leishmaniasis" "A severe form of leishmaniasis characterized by irregular bouts of fever, substantial weight loss, swelling of the spleen and liver, and anaemia (which may be serious). If left untreated it may lead to death. Two species of Leishmania are known to give rise to the visceral form of the disease. The species commonly found in East Africa and the Indian subcontinent is L. donovani and the species found in Europe, North Africa, and Latin America is L. infantum, also known as L. chagasi." "" + "leishmaniasis" "Infectious disease that is transmitted through the bite of hematophagous female phlebotomine sand flies. The clinical spectrum ranges from asymptomatic to clinically overt disease which can remain localized to the skin or disseminate to the upper oral and respiratory mucous membranes or throughout the reticulo-endothelial system. Three main clinical syndromes have been described: visceral (or Kala-Azar; with fever, weight loss, hepatosplenomegaly), cutaneous, and mucocutaneous leishmaniasis (cutaneous or mucocutaneous ulceration)." "" + "cutaneous leishmaniasis" "Leishmaniasis affecting the skin. It is the most common form of leishmaniasis. It presents with erythematous macules and papules, and nodules which may eventually ulcerate. The lesions appear in the bite site in the exposed skin areas." "" + "hepatitis C induced liver cirrhosis" "Liver injury resulting from hepatitis C infection." "" + "obsolete autoimmune disease" "" "true" + "bulimia nervosa" "A disorder characterized by recurrent episodes of binge-eating over which the individual feels a lack of control; these episodes of binge-eating are followed by recurrent compensatory behavior to prevent weight gain, usually self-induced vomiting. In addition, self-evaluation is unduly influenced by body image." "" + "obsolete cholangiocarcinoma" "" "true" + "obsolete avian influenza" "" "true" + "obsolete acute stress reaction" "" "true" + "obsolete q fever" "" "true" + "human African trypanosomiasis" "A parasitic disorder caused by protozoa of the Trypanosoma brucei species. It is transmitted by flies and is endemic in various regions of Sub-Saharan Africa. Signs and symptoms include fever, joint pain, headache, and significant swelling of the lymph nodes. If left untreated, the parasitic infection causes anemia, heart, kidney, and endocrine failure, and neurologic damage. Subsequently patients develop confusion, disruption of the sleep cycle, and mental deterioration. The infection may lead to coma and death." "" + "swine influenza" "An acute viral respiratory infection caused by a strain of influenza virus which is endemic in swine (pigs). Rarely reported in humans prior to 2009, the disease is caused by a mutated strain of swine influenza A (H1N1) virus. It is highly contagious and spreads mainly through coughing and sneezing. Signs and symptoms include fever, chills, coughing, sore throat headache, muscle ache, and generalized weakness. Antiviral medications are most effective in the first two days of the illness." "" + "influenza" "An acute viral infection of the respiratory tract, occurring in isolated cases, in epidemics, or in pandemics; it is caused by serologically different strains of viruses (influenzaviruses) designated A, B, and C, has a 3-day incubation period, and usually lasts for 3 to 10 days. It is marked by inflammation of the nasal mucosa, pharynx, and conjunctiva; headache; myalgia; often fever, chills, and prostration; and occasionally involvement of the myocardium or central nervous system." "" + "embryonal tumor of neuroepithelial tissue" "" + "aortic valve calcification" "Calcification of the aortic valve" "" + "rhegmatogenous retinal detachment" "Retinal detachment secondary to retinal tear or break." "" + "methamphetamine-induced psychosis" "Abnormal mental state resulting from an abuse of methamphetamine" "" + "hypersomnia" "A sleep disorder characterized by excessive sleepiness." "" + "occupation-related stress disorder" "The response people may have when presented with work demands and pressures that are not matched to their knowledge and abilities and which challenge their ability to cope." "" + "occupational disorder" "Any disorder that is realized in response to an exposure to occupation." "" + "orthostatic hypotension" "Sudden fall of the blood pressure of at least 20/10 mm Hg when a person stands up." "" + "postprandial hypotension" "Drastic decline in blood pressure which happens after eating a meal and most likely due to insufficient compensation in cardiac output by the autonomic nervous sytem for the diversion of blood to the intestines." "" + "neurally mediated hypotension" "Neurally mediated hypotension is a sudden drop in blood pressure while an individual stands up. It occurs when there is an abnormal reflex interaction between the heart and the brain, both of which usually are structurally normal" "" + "obsolete congenital heart malformation" "" "true" + "temporomandibular joint disorder" "Any condition affecting the anatomic and functional characteristics of the temporomandibular joint." "" + "obsolete non-small cell lung adenocarcinoma" "" "true" + "migraine with aura" "A migraine disorder characterized by episodes that are preceded by focal neurological symptoms." "" + "atrioventricular node disease" "A disease involving the atrioventricular node." "" + "ventricular tachycardia" "A disorder characterized by an electrocardiographic finding of three or more consecutive complexes of ventricular origin with a rate greater than a certain threshold (100 or 120 beats per minute are commonly used). The QRS complexes are wide and have an abnormal morphology. (CDISC)" "" + "contact dermatitis" "An inflammatory skin condition caused by direct contact between the skin and either an irritating substance or an allergen." "" + "contact dermatitis due to nickel" "A form of allergic contact dermatitis that results from exposure to nickel" "" + "molar-incisor hypomineralization" "A hypomineralisation of systemic origin of one to four permanent first molars frequently associated with affected incisors" "" + "chemotherapy-induced alopecia" "Hair loss as a result of chemotherapy treatment." "" + "digestive system adenoma" "A sporadic or less frequently familial neoplasm, arising from the glandular epithelium of the stomach, small intestine, biliary tract, colon, and rectum. It is a polypoid or flat circumscribed lesion. Morphologically, it is characterized by a proliferation of neoplastic glandular cells and it is associated with dysplasia. According to the growth pattern, it may be classified as tubular, villous, or tubulovillous. The dysplasia is classified as mild, moderate, or severe. The frequency of malignant transformation depends on the size of the lesion and the degree of dysplasia. Larger adenomas with severe dysplastic changes (sometimes called carcinoma in situ) carry a higher risk of progressing to invasive adenocarcinoma. Gastrointestinal adenomas may present as solitary or multifocal lesions. Familial adenomas tend to be multifocal and carry a higher risk of malignant transformation." "" + "tooth agenesis" "Oligodontia is a rare developmental dental anomaly in humans characterized by the absence of six or more teeth." "" + "schizoaffective disorder" "A disorder in which the individual suffers from both symptoms that qualify as schizophrenia and symptoms that qualify as a mood disorder (e.g., depression or bipolar disorder) for a substantial portion (but not all) of the active period of the illness; for the remainder of the active period of the illness, the individual suffers from delusions or hallucinations in the absence of prominent mood symptoms." "" + "adolescent idiopathic scoliosis" "A scoliosis with no known cause arising in adolescent." "" + "dyslexia" "A learning disorder characterized by an impairment in processing written words. Reading difficulties can include distortions, omissions or substitutions of characters. Oral and silent reading difficulties can include faulty and slow comprehension." "" + "large artery stroke" "Stroke caused by the blockage of blood flow in one of the large arteries feeding the brain." "" + "Chagas cardiomyopathy" "A disease of the cardiac muscle developed subsequent to the initial protozoan infection by trypanosoma cruzi. After infection, less than 10% develop acute illness such as myocarditis (mostly in children). The disease then enters a latent phase without clinical symptoms until about 20 years later. Myocardial symptoms of advanced chagas disease include conduction defects (heart block) and cardiomegaly." "" + "urticaria" "A vascular reaction of the skin characterized by erythema and wheal formation due to localized increase of vascular permeability. The causative mechanism may be allergy, infection, or stress." "" + "delayed encephalopathy after acute carbon monoxide poisoning" "Anoxic encephalopathy resulting from acute CO intoxication, developing within 2-6 weeks of the poisoning event" "" + "estrogen-receptor negative breast cancer" "A subtype of breast cancer that is estrogen-receptor negative" "" + "botulism" "A serious bacterial infection caused by botulinum toxin which is produced by Clostridium botulinum. Patients are infected usually by ingestion of contaminated food or wound contamination. It leads to muscle paralysis which may result in respiratory failure." "" + "acquired neuromuscular junction disease" "An instance of neuromuscular junction disease that is acquired during the lifetime of the individual." "" + "Clostridium infectious disease" "Infections with bacteria of the genus clostridium." "" + "congenital disorder of glycosylation type I" "A congenital disorder of glycosylation involve disrupted synthesis of the lipid-linked oligosaccharide precursor." "" + "congenital disorder of glycosylation" "Congenital disorder of glycosylation (CDG) is a fast growing group of inborn errors of metabolism characterized by defective activity of enzymes that participate in glycosylation (modification of proteins and other macromolecules by adding and processing of oligosaccharide side chains). CDG is comprised of phenotypically diverse disorders affecting multiple systems including the central nervous system, muscle function, immunity, endocrine system, and coagulation. The numerous entities in this group are subdivided, based on the synthetic pathway affected, into disorder of protein N-glycosylation, disorder of protein O-glycosylation, disorder of multiple glycosylation, and disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation." "" + "congenital disorder of glycosylation type II" "A congenital disorder of glycosylation that involves malfunctioning trimming/processing of the protein-bound oligosaccharide chain." "" + "arbovirus fever" "Arbovirosis are polymorphic diseases caused by arboviruses and are classically characterized by encephalitis and hemorrhage, however, most commonly only aspecific fever is observed." "" + "diphtheria" "A Gram-positive bacterial infection caused by Corynebacterium diphtheriae. It usually involves the oral cavity, pharynx, and nasal cavity. Patients develop pseudomembranes in the affected areas and manifest signs and symptoms of an upper respiratory infection. The diphtheria toxin may cause myocarditis, polyneuritis, and other systemic effects." "" + "dysembryoplastic neuroepithelial tumor" "A benign glial-neuronal neoplasm. It is usually supratentorial, located, generally, in the cortex and occurs in children and young adults with a long-standing history of partial seizures. A histologic hallmark of this tumor is the 'specific glioneuronal element', characterized by columns, made up of bundles of axons, oriented perpendicularly to the cortical surface.B" "" + "gingival neoplasm" "A benign or malignant neoplasm that affects the upper or lower gingiva." "" + "hereditary multiple osteochondromas" "Multiple osteochondromas (MO) is characterised by development of two or more cartilage capped bony outgrowths (osteochondromas) of the long bones." "" + "disorder of O-xylosylglycan synthesis" "" + "congenital disorder of glycosylation-related bone disorder" "" + "hydronephrosis" "Collection of urine in the renal pelvis that results in dilatation of the renal pelvis and calyces. It is caused by obstruction of urine flow, nephrolithiasis, or vesicoureteral reflux. Signs and symptoms include flank pain, nausea, vomiting, fever, and dysuria." "" + "janus kinase-3 deficiency" "Deficiency of janus kinase-3 causing the near absence of T lymphocytes and Natural killer cells; and normal or elevated B lymphocytes due to an autosomal recessive variant of severe combined immunodeficiency." "" + "malignant peritoneal mesothelioma" "An aggressive malignant mesothelioma that arises from the peritoneum. Patients usually present with abdominal pain and ascites." "" + "obsolete methylmalonic aciduria and homocystinuria type cblE" "" "true" + "nanophthalmia" "Nanophthalmia is a severe form of microphthalmia characterized by a small eye with a short axial length, severe hyperopia, an elevated lens/eye ratio, and a high incidence of angle-closure glaucoma." "" + "malignant tumor of neck" "A cancer that involves the neck." "" + "pseudohermaphroditism" "A condition consisting of possessing the internal reproductive organs of one sex while exhibiting some of the secondary sex characteristics of the opposite sex." "" + "indeterminate sex and/or pseudohermaphroditism" "" + "malignant renal pelvis neoplasm" "A primary or metastatic malignant neoplasm that affects the renal pelvis." "" + "rickets" "Bone softening and weakening usually caused by deficiency or impaired metabolism of vitamin D. Deficiency of calcium, magnesium, or phosphorus may also cause rickets. It predominantly affects children who suffer from severe malnutrition. It manifests with bone pain, fractures, muscle weakness, and skeletal deformities." "" + "obsolete shigellosis" "" "true" + "steroid inherited metabolic disorder" "Errors in metabolic processing of steroids resulting from inborn genetic mutations that are inherited or acquired in utero." "" + "toxic encephalopathy" "A group of neurologic disorders caused by damage to the nervous system following exposure to pharmacologic, biologic, and chemical agents. Examples of neurotoxins include chemotherapy agents, radiation treatment, heavy metals, pesticides, and food additives." "" + "obsolete methylmalonic aciduria and homocystinuria type cblG" "" "true" + "morphine dependence" "Strong dependence, both physiological and emotional, upon morphine." "" + "Crohn's colitis" "Crohn's disease affecting the colon." "" + "distal colitis" "Particular variety of ulcerative colitis where only the left half of the colon is inflamed." "" + "ileocolitis" "Ileocolitis or ileal Crohn's is the most common type of Crohn's disease. It affects both the ileum (small intestine) and the colon." "" + "oral Crohn disease" "Crohn's disease affecting the mouth." "" + "pancolitis" "Ulcerative colitis that involves the entire colon." "" + "perianal Crohn disease" "An Crohn disease involving a pathogenic inflammatory response in the anal canal." "" + "proctitis" "An inflammatory process affecting the anus. It is usually caused by sexually transmitted infectious agents and/or inflammatory bowel disease." "" + "obsolete rectal adenocarcinoma" "" "true" + "spondylolysis" "A defect in the pars interarticularis of a vertebral bone." "" + "acute coronary syndrome" "Signs and symptoms related to acute ischemia of the myocardium secondary to coronary artery disease. The clinical presentation covers a spectrum of heart diseases from unstable angina to myocardial infarction." "" + "myocardial ischemia" "A disorder of cardiac function caused by insufficient blood flow to the muscle tissue of the heart. The decreased blood flow may be due to narrowing of the coronary arteries (coronary artery disease), to obstruction by a thrombus (coronary thrombosis), or less commonly, to diffuse narrowing of arterioles and other small vessels within the heart. Severe interruption of the blood supply to the myocardial tissue may result in necrosis of cardiac muscle (myocardial infarction)." "" + "autoimmune hepatitis type 1" "Autoimmune hepatitis characterized by the presence of antinuclear antibody (ANA) and antismooth-muscle antibody (ASMA)." "" + "autoimmune hepatitis" "Hepatitis caused by autoantibodies. Drugs, infections, and toxins may trigger the production of the autoantibodies against the liver parenchyma." "" + "hippocampal sclerosis of aging" "Age-related neuropathological condition with severe neuronal cell loss and gliosis in the hippocampus" "" + "staphylococcal infection" "An infection caused by Staphylococcus." "" + "fibromyalgia" "A chronic disorder of unknown etiology characterized by pain, stiffness, and tenderness in the muscles of neck, shoulders, back, hips, arms, and legs. Other signs and symptoms include headaches, fatigue, sleep disturbances, and painful menstruation." "" + "chronic pain syndrome" "Chronic form of disorder involving pain." "" + "obsolete desmoplastic medulloblastoma" "" "true" + "obsolete malignant rhabdoid tumour" "" "true" + "infectious disease or post-infectious disorder" "A disease or disorder that result from the presence and activity of a microbial, viral, fungal or parasitic agent, or a disorder that follows infection with an infectious agent but is distinct from the usual manifestations of the infection itself." "" + "autoinflammatory syndrome" "A group of disorders of the innate immune system characterized by attacks of seemingly unprovoked inflammation without significant levels of either autoantibodies or autoreactive T cells more characteristic of autoimmune disease." "" + "obsolete parathyroid disease" "" "true" + "cycloplegia" "Cycloplegia is paralysis of the ciliary muscle of the eye, resulting in a loss of accommodation." "" + "lupus nephritis" "Glomerulonephritis in the context of systemic lupus erythematosus." "" + "systemic lupus erythematosus" "An autoimmune multi-organ disease typically associated with vasculopathy and autoantibody production. Most patients have antinuclear antibodies (ANA). The presence of anti-dsDNA or anti-Smith antibodies are highly-specific." "" + "autoimmune glomerulonephritis" "An autoimmune form of glomerulonephritis (disease)." "" + "age-related hearing impairment" "Age-related hearing impairment is characterized by a symmetric sensorineural hearing loss that is most pronounced in the high frequencies. Age of onset, progression, and severity of age-related hearing impairment (ARHI) show great variation in the population, but with a demonstrable increased prevalence in males." "" + "sensorineural hearing loss disorder" "Hearing loss in which the root cause lies in the inner ear or sensory organ (cochlea and associated structures) or the vestibulocochlear nerve (cranial nerve VIII)." "" + "nut midline carcinoma" "A rare, highly aggressive and lethal carcinoma that affects children and young adults. It arises from midline epithelial structures, most commonly the head, neck, and mediastinum. It is a poorly differentiated carcinoma and is characterized by mutations and rearrangement of the NUT gene. A balanced translocation t(15;19) is present that results in the creation of a fusion gene involving the NUT gene, most commonly BRD4-NUT fusion gene." "" + "undifferentiated carcinoma" "A usually aggressive malignant epithelial neoplasm composed of atypical cells which do not display evidence of glandular, squamous, or transitional cell differentiation." "" + "blastoma" "A malignant neoplasm composed of undifferentiated cells." "" + "neonatal abstinence syndrome" "A constellation of neurobehavioral features observed in a neonate following antenatal exposure to drugs including opioids, benzodiazepines, and selective serotonin reuptake inhibitors." "" + "obsolete cartilage disease" "Softening and degeneration of the CARTILAGE. Pathological processes involving the chondral tissue (CARTILAGE)." "" "true" + "polycythemia due to hypoxia" "Polycythemia resulting from hypoxia." "" + "obsolete type II hypersensitivity reaction disease" "" "true" + "cryoglobulinemia" "Cryoglobulinemia is a type of vasculitis that is caused by abnormal proteins (antibodies) in the blood called 'cryoglobulins.' At cold temperatures, these proteins become solid or gel-like, which can block blood vessels and cause a variety of health problems. Many people affected by this condition will not experience any unusual signs or symptoms. When present, symptoms vary but may include breathing problems; fatigue; glomerulonephritis ; joint or muscle pain; purpura ; Raynaud's phenomenon ; skin death; and/or skin ulcers. In some cases, the exact underlying cause is unknown; however, cryoglobulinemia can be associated with a variety of conditions including certain types of infection; chronic inflammatory diseases (such as autoimmune disease); and/or cancers of the blood or immune system. Treatment varies based on the severity of the condition, the symptoms present in each person and the underlying cause." "" + "obsolete narcolepsy without cataplexy" "" "true" + "epilepsy, idiopathic generalized" "A chronic condition characterised by recurrent generalised seizures." "" + "AVL induced bursal lymphoma" "Malignant lymphoma of the bursa of Fabricius, induced by avian leukosis virus occuring in birds." "" + "binge eating disorder" "Recurrent episodes of over-eating." "" + "congenital heart malformation" "A disease that has its basis in the disruption of heart development." "" + "chemotherapy-induced hypertension" "A form of hypertension that occurs as a direct result of chemotherapy treatment" "" + "obsolete non-Hodgkins lymphoma" "" "true" + "chemotherapy-induced oral mucositis" "Inflammation and ulceration of the oral mucosa as a result of chemotherapy treatment." "" + "thiopurine immunosuppressant-induced pancreatitis" "Pancreatits that is the result of treatment with thiopurine immunosuppressants such as azathioprine or mercaptopurine." "" + "pit and fissure surface dental caries" "" + "smooth surface dental caries" "" + "severe cutaneous adverse reaction" "A permanent mark left on the skin in the process of wound healing." "" + "obsolete rare otorhinolaryngologic tumor" "True" "true" + "cystic renal cell carcinoma" "Cystic renal cell carcinoma includes any malignant neoplasm of renal tubular epithelium which presents as a fluid-filled mass. Approximately 15 per cent of cases of renal cell carcinoma will be cystic on radiologic and pathologic examination. The clinical features of cystic renal cell carcinoma are similar to those which are solid. The radiographic and pathologic findings of cystic renal cell carcinoma are often more confusing and less specific than the findings of renal cell carcinoma which are predominantly solid. There are four basic pathologic mechanisms resulting in cystic renal cell carcinoma: intrinsic multiloculated growth; intrinsic unilocular growth (cystadenocarcinoma); cystic necrosis; and origin from the epithelial lining of a preexisting simple cyst. There are three basic radiologic patterns of cystic renal cell carcinoma: unilocular cystic mass, multiloculated cystic mass, and discrete mural nodule in a cystic mass. Cystic renal cell carcinoma is often extremely difficult to differentiate from non-neoplastic, benign neoplastic, and other malignant neoplastic masses utilizing radiologic studies alone. This review presents the clinical, pathologic, and radiographic features of cystic renal cell carcinoma and discusses its radiologic differential diagnosis." "" + "dopaminergic neuroblastoma" "A neuroblastoma associated with increased dopamine excretion." "" + "malignant epithelioid mesothelioma" "A malignant neoplasm arising from mesothelial cells in the pleura. It is characterized by the presence of neoplastic cells with an epithelioid appearance. In the majority of cases, the neoplastic epithelioid cells lack significant cytologic atypia; mitotic figures are infrequently seen. In a minority of cases, the neoplastic cells are poorly differentiated and there is evidence of nuclear atypia and increased mitotic activity." "" + "obsolete ovarian adenocarcinoma" "" "true" + "gonadal teratoma" "A teratoma that arises from the testis or ovary." "" + "pancreatic tubular adenocarcinoma" "A tubular adenocarcinoma that involves the pancreas." "" + "obsolete plasma cell leukemia" "" "true" + "chronic bronchitis" "A type of chronic obstructive pulmonary disease characterized by chronic inflammation in the bronchial tree that results in edema, mucus production, obstruction, and reduced airflow to and from the lung alveoli. The most common cause is tobacco smoking. Signs and symptoms include coughing with excessive mucus production, and shortness of breath." "" + "varicella zoster infection" "A highly contagious viral infection caused by the varicella zoster virus. Clinically, it may be manifested as shingles or chicken pox." "" + "herpes zoster" "A common dermal and neurologic disorder caused by reactivation of the varicella-zoster virus that has remained dormant within dorsal root ganglia, often for decades, after the patient's initial exposure to the virus in the form of varicella (chickenpox). It is characterized by severe neuralgic pain along the distribution of the affected nerve and crops of clustered vesicles over the area." "" + "disease arising from reactivation of latent virus" "An infectious disease that arises from reactivation of a virus from a latent phase to a lytic phase." "" + "post-infectious neuralgia" "" + "Kashin-Beck disease" "Disabling osteochondrodysplasia with osteosclerosis, cone-shaped metaphysis, and shortening of the diaphysis. It is endemic in parts of Siberia and northern China. Mineral deficiencies (e.g., selenium, iodine), fungal cereal contamination, and water contamination may be contributing factors in its etiology." "" + "obsolete ovarian leiomyosarcoma" "" "true" + "pancreatic adenosquamous carcinoma" "A carcinoma that arises from the pancreas showing both ductal and squamous differentiation. The squamous component should represent at least 30% of the malignant cellular infiltrate. The prognosis is usually worse than that of ductal adenocarcinoma." "" + "squamous cell carcinoma of pancreas" "A squamous cell carcinoma that involves the pancreas." "" + "hematological disease associated with an acquired peripheral neuropathy" "True" + "typhoid fever" "A bacterial infectious disorder contracted by consumption of food or drink contaminated with Salmonella typhi. This disorder is common in developing countries and can be treated with antibiotics." "" + "cerebral amyloid angiopathy" "Hereditary cerebral hemorrhage with amyloidosis (HCHWA) describes a group of rare familial central nervous system disorders characterized by amyloid deposition in the cerebral blood vessels leading to hemorrhagic and non-hemorrhagic strokes, focal neurological deficits, and progressive cognitive decline eventually leading to dementia." "" + "hereditary amyloidosis" "Hereditary amyloidosis refers to a group of inherited conditions that make up one of the subtypes of amyloidosis. Hereditary amyloidosisis characterized by the deposit of an abnormal protein called amyloid in multiple organs of the body where it should not be, which causes disruption of organ tissue structure and function. In hereditary amyloidosis, amyloid deposits most often occur in tissues of the heart, kidneys, and nervous system. While symptoms of hereditary amyloidosis may appear in childhood, most individuals do not experience symptoms until adulthood. There are many types of hereditary amyloidosis associated with different gene mutations and abnormal proteins. The most common type of hereditary amyloidosis is transthyretin amyloidosis (ATTR),a condition in which the amyloid deposits are most often made up of the transthyretin protein which is made in the liver. Other examplesof hereditary amyloidosis include, but are not limited to, apolipoprotein AI amyloidosis (A ApoAI), gelsolin amyloidosis (A Gel), lysozyme amyloidosis (A Lys), cystatin C amyloidosis (A Cys), fibrinogen Aα-chain amyloidosis (A Fib), and apolipoprotein AII amyloidosis (A ApoAII). Most types of hereditary amyloidosis are inherited in an autosomal dominant manner. Treatment is focused on addressing symptoms of organ damage and slowing down the production of amyloid when possible through methods such as liver transplants." "" + "genetic cerebral small vessel disease" "" + "metabolic disease with dementia" "True" + "cerebrovascular dementia" "" + "vascular brain injury" "Damage to the blood vessels of the brain" "" + "brain injury" "Acute and chronic (see also brain INJURIES, CHRONIC) injuries to the brain, including the cerebral hemispheres, CEREBELLUM, and brain STEM. Clinical manifestations depend on the nature of injury. Diffuse trauma to the brain is frequently associated with DIFFUSE AXONAL INJURY or COMA, POST-TRAUMATIC. Localized injuries may be associated with NEUROBEHAVIORAL MANIFESTATIONS; HEMIPARESIS, or other focal neurologic deficits." "" + "obsolete vasculitis" "" "true" + "atrophic thyroiditis" "Atrophic thyroiditis is an organ-specific autoimmune disease characterized by thyroid autoantibodies, functional hypothyroidism, and absence of goiter." "" + "cerebral malaria" "A sequestration of Plasmodium falciparum in the brain, which can cause coma and/or seizures." "" + "male breast carcinoma" "A malignant neoplasm involving the male breast." "" + "Acanthamoeba keratitis" "Keratitis due to infection by acanthamoeba; it is usually associated with soft contact lens wear, particularly overnight wear." "" + "parasitic endophthalmitis" "Infection of the epicondyles by a parasite." "" + "actinobacillosis" "A disease characterized by suppurative and granulomatous lesions in the respiratory tract, upper alimentary tract, skin, kidneys, joints, and other tissues. Actinobacillus lignieresii infects cattle and sheep while A. equuli infects horses and pigs." "" + "Actinobacillus infectious disease" "Infections with bacteria of the genus actinobacillus." "" + "Actinomycetales infectious disease" "Infections with bacteria of the order actinomycetales." "" + "acute chest syndrome" "A vaso-occlusive crisis of the pulmonary vasculature occurring in patients with sickle cell disease. It is characterized by the presence of a new radiodensity on a chest radiograph accompanied by fever, cough, sputum production, dyspnea, or hypoxia." "" + "sickle cell anemia" "Sickle cell anemias are chronic hemolytic diseases that may induce three types of acute accidents: severe anemia, severe bacterial infections, and ischemic vasoocclusive accidents (VOA) caused by sickle-shaped red blood cells obstructing small blood vessels and capillaries. Many diverse complications can occur." "" + "obsolete acute disseminated encephalomyelitis" "" "true" + "acute hemorrhagic conjunctivitis" "Acute conjunctivitis that is characterized by bleeding into the conjunctiva." "" + "obsolete adult-onset Still disease" "" "true" + "AIDS related complex" "A prodromal phase of infection with the human immunodeficiency virus (HIV). Laboratory criteria separating aids-related complex (ARC) from aids include elevated or hyperactive B-cell humoral immune responses, compared to depressed or normal antibody reactivity in aids; follicular or mixed hyperplasia in arc lymph nodes, leading to lymphocyte degeneration and depletion more typical of aids; evolving succession of histopathological lesions such as localization of Kaposi's sarcoma, signaling the transition to the full-blown aids." "" + "akinetic mutism" "A syndrome characterized by a silent and inert state without voluntary motor activity despite preserved sensorimotor pathways and vigilance. Bilateral frontal lobe dysfunction involving the anterior cingulate gyrus and related brain injuries are associated with this condition. This may result in impaired abilities to communicate and initiate motor activities. (From Adams et al., Principles of Neurology, 6th ed, p348; Fortschr Neurol Psychiatr 1995 Feb;63(2):59-67)" "" + "aleutian mink disease" "A slow progressive disease of mink caused by the aleutian mink disease virus. It is characterized by poor reproduction, weight loss, autoimmunity, hypergammaglobulinemia, increased susceptibility to bacterial infections, and death from renal failure. The disease occurs in all color types, but mink which are homozygous recessive for the Aleutian gene for light coat color are particularly susceptible." "" + "Parvoviridae infectious disease" "Virus infections caused by the parvoviridae." "" + "Togaviridae infectious disease" "Virus diseases caused by the togaviridae." "" + "amebiasis" "A parasitic infectious disorder caused by amoebas. The parasite may cause colitis which is manifested with bloody diarrhea, abdominal pain, nausea and fever. In rare cases it may spread to the liver, brain and lungs." "" + "ancylostomiasis" "Infection by hookworms of the genus Ancylostoma." "" + "Strongylida infectious disease" "Infections with nematodes of the order strongylida." "" + "obsolete anisakiasis" "" "true" + "anogenital human papillomavirus infection" "A sexually transmitted papillary growth caused by the human papillomavirus. It usually arises in the skin and mucous membranes of the perianal region and external genitalia." "" + "aortic valve insufficiency" "Dysfunction of the aortic valve characterized by incomplete valve closure." "" + "appendicitis" "Acute inflammation of the vermiform appendix." "" + "arenavirus hemorrhagic fever" "A viral infectious disease that involves fever and bleeding disorder caused by Arenavirus." "" + "Arterivirus infectious disease" "Infections caused by viruses of the family arteriviridae." "" + "Nidovirales infectious disease" "Infections with viruses of the order nidovirales. The concept includes arterivirus infections and coronaviridae infections." "" + "obsolete asbestosis" "" "true" + "ascariasis" "An infection that is caused by the roundworm Ascaris lumbricoides, many cases of which remain asymptomatic. During the transient larval migratory phase, shortness of breath, fever, and eosinophilia can occur. Depending on the intestinal worm burden, a spectrum of gastrointestinal tract symptoms can occur." "" + "ascaridiasis" "Infection with nematodes of the genus ascaridia. This condition usually occurs in fowl, often manifesting diarrhea." "" + "Astroviridae infectious disease" "Infections with astrovirus, causing gastroenteritis in human infants, calves, lambs, and piglets." "" + "atrophic rhinitis" "A chronic inflammation in which the nasal mucosa gradually changes from a functional to a non-functional lining without mucociliary clearance. It is often accompanied by degradation of the bony turbinates, and the foul-smelling mucus which forms a greenish crust (ozena)." "" + "Avulavirus infectious disease" "Infections with viruses of the genus avulavirus, family paramyxoviridae. This includes newcastle disease and other infections of domestic fowl." "" + "babesiosis" "Babesiosis refers to a condition caused by microscopic parasites that infect the red blood cells. Many people who are infected with Babesia parasites do not experience any symptoms of the condition. When present, signs and symptoms may include flu-like symptoms such as fever, chills, headache, body aches, nausea and fatigue. In severe cases, babesiosis can be associated with hemolytic anemia. Babesia parasites are primarily spread by infected ticks. Treatment is generally only required in people who develop symptoms of the condition. When necessary, affected people are often prescribed a combination of antimicrobial medications along with supportive care to manage symptoms." "" + "balantidiasis" "Infection by parasites of the genus balantidium. The presence of Balantidium in the large intestine leads to diarrhea; dysentery; and occasionally ulcer." "" + "Ciliophora infectious disease" "Infections with protozoa of the phylum ciliophora." "" + "Barre-Lieou syndrome" "A neurologic syndrome following injury of the spinal sympathetic nerves of the neck. The injury usually results from arthritis or pinching by the adjacent vertebrae. Symptoms include facial pain, chronic allergies, dizziness, neck pain, ear pain and vertigo." "" + "Bartonellaceae infectious disease" "Infections with bacteria of the family bartonellaceae." "" + "Bell's palsy" "Partial or complete paralysis of the facial muscles of one side of a person's face. It is caused by damage to the seventh cranial nerve. It is usually temporary but it may recur." "" + "obsolete berylliosis" "" "true" + "biliary dyskinesia" "A motility disorder characterized by biliary colic, absence of gallstones, and an abnormal gallbladder ejection fraction. It is caused by gallbladder dyskinesia and/or sphincter of oddi dysfunction." "" + "bird fancier's lung" "Hypersensitivity granulomatous pneumonitis caused by the inhalation of avian antigens that are present in the dust of the droppings and feathers of many species of birds. In the acute phase it manifests as fever, chills, dyspnea, cough, and chest tightness. Chronic exposure may lead to interstitial lung fibrosis." "" + "black piedra" "A superficial mycosis that is caused by Piedraia hortae and is manifested by a small firm black nodule involving the hair shaft." "" + "blackwater fever" "A complication of malaria resulting from hemolysis." "" + "Blastocystis infectious disease" "Infections with organisms of the genus blastocystis. The species B. hominis is responsible for most infections. Parasitologic surveys have generally found small numbers of this species in human stools, but higher positivity rates and organism numbers in aids patients and other immunosuppressed patients (immunocompromised host). Symptoms include abdominal pain; diarrhea; constipation; vomiting; and fatigue." "" + "blastomycosis" "Blastomycosis is a rare infection that may develop when people inhale a fungus called Blastomyces dermatitidis, a fungus that is found in moist soil, particularly where there is rotting vegetation. The fungus enters the body through the lungs, infecting them. The fungus then spreads to other areas of the body.The infection may affect the skin, bones and joints, and other areas. The disease usually affects people with weakened immune systems, such as those with HIV or who have had an organ transplant." "" + "blind loop syndrome" "A disorder affecting the small intestine. It is caused by the stasis of food and subsequent overgrowth of bacteria in a portion of the small intestine that is unintentionally bypassed as a complication of abdominal surgery or as a sequela of gastrointestinal disorders which impede effective motility. Clinical signs include bloating, abdominal pain, diarrhea and weight loss. If untreated, the clinical course progresses to malabsorption of fats, vitamin B12 and calcium, the latter which predisposes to nephrolithiasis and osteoporosis." "" + "bone giant cell tumor" "A benign but locally aggressive tumor that arises from the bone and is composed of mononuclear cells admixed with macrophages and osteoclast-like giant cells. It usually arises from the ends of long bones or the vertebrae. Clinical presentation includes pain, edema, and decreased range of motion in the affected joint." "" + "border disease" "Congenital disorder of lambs caused by a virus closely related to or identical with certain strains of bovine viral diarrhea virus." "" + "borna disease" "An encephalomyelitis of horses, sheep and cattle caused by borna disease virus." "" + "bovine respiratory disease complex" "A multifactorial disease of cattle resulting from complex interactions between environmental factors, host factors, and pathogens. The environmental factors act as stressors adversely affecting the immune system and other host defenses and enhancing transmission of infecting agents." "" + "bovine virus diarrhea-mucosal disease" "Acute disease of cattle caused by the bovine viral diarrhea viruses (diarrhea viruses, bovine viral). Often mouth ulcerations are the only sign but fever, diarrhea, drop in milk yield, and loss of appetite are also seen. Severity of clinical disease varies and is strain dependent. Outbreaks are characterized by low morbidity and high mortality." "" + "Brill-Zinsser disease" "A delayed relapse of epidemic typhus, caused by Rickettsia prowazekii." "" + "epidemic louse-borne typhus" "A gram-negative bacterial infection caused by Rickettsia prowazekii. It is spread by lice infected with the bacteria. Signs and symptoms include sudden headache, generalized muscle pain, malaise, and macular skin lesions. The infection may affect the central nervous system causing encephalitis." "" + "" "true" + "bronchiolitis obliterans with obstructive pulmonary disease" "Bronchiolitis obliterans syndrome (BOS) is a lung disorder that is mainly associated with chronic allograft dysfunction after lung transplantation and that is characterized by inflammation and fibrosis of bronchiolar walls that reduce the diameter of the bronchioles and result in progressive and irreversible airflow obstruction." "" + "bronchopneumonia" "Acute inflammation of the walls of the terminal bronchioles that spreads into the peribronchial alveoli and alveolar ducts. It results in the creation of foci of consolidation, which are surrounded by normal parenchyma. It affects one or more lobes, and is frequently bilateral and basal. It is usually caused by bacteria (e.g., Staphylococcus, Streptococcus, Haemophilus influenzae). Signs and symptoms include fever, cough with production of brown-red sputum, dyspnea, and chest pain." "" + "bulbar polio" "A form of paralytic poliomyelitis affecting neurons of the medulla oblongata of the brain stem. Clinical features include impaired respiration, hypertension, alterations of vasomotor control, and dysphagia. Weakness and atrophy of the limbs and trunk due to spinal cord involvement is usually associated. (From Adams et al., Principles of Neurology, 6th ed, p765)" "" + "disorder of medulla oblongata" "A disease that involves the medulla oblongata." "" + "obsolete bullous pemphigoid" "" "true" + "obsolete Bunyaviridae infectious disease" "" "true" + "Caliciviridae infectious disease" "Virus diseases caused by caliciviridae. They include hepatitis E; vesicular exanthema of swine; acute respiratory infections in felines, rabbit hemorrhagic disease, and some cases of gastroenteritis in humans." "" + "campylobacteriosis" "Infections with bacteria of the genus campylobacter." "" + "cannabis dependence" "Physical and psychological dependence on the drug cannabis." "" + "Caplan syndrome" "A combination of rheumatoid arthritis (RA) and pneumoconiosis that manifests as intrapulmonary nodules, which appear homogenous and well-defined on chest X-ray." "" + "cardiovirus infectious disease" "Infections caused by viruses of the genus cardiovirus, family picornaviridae." "" + "Picornaviridae infectious disease" "Virus diseases caused by the picornaviridae." "" + "cat-scratch disease" "Cat scratch disease is an infectious illness caused by the bacteria bartonella (Bartonella henselae). It is believed to be transmitted by cat scratches, bites, or exposure to cat saliva. This self-limiting infectious diseaseis characterized by a bump or blister at the site of the bite or scratch and swelling and pain in the lymph nodes. Other features may include fatigue, headache, achiness, and fever. Although cat-scratch disease usually subsides without treatment, antibiotic and/or antimicrobial therapy may help speed recovery." "" + "cauda equina syndrome" "Cauda equina syndrome refers to a group of symptoms that occur when some of the nerves in the cauda equina (the bundle of nerves that spread out from the bottom of the spinal cord) become compressed and/or damaged. Signs and symptoms of this condition include pain, numbness, or tingling in the lower back and/or legs; ' foot drop '; problems with bowel and/or bladder control; and sexual dysfunction. Cauda equina syndrome may be caused by a herniated disk, tumor, infection, fracture, or spinal stenosis. Treatment usually targets the underlying cause of the condition and often includes surgery to remove the material that is pressing on the nerves. Physical therapy, occupational therapy, and/or other services may be required if symptoms persist following surgery." "" + "central nervous system AIDS arteritis" "Inflammation of arteries in the central nervous system that occurs in patients with acquired immunodeficiency syndrome or aids-related opportunistic infections." "" + "central nervous system tuberculosis" "A well-circumscribed mass composed of tuberculous granulation tissue that may occur in the cerebral hemispheres, cerebellum, brain stem, or perimeningeal spaces. Multiple lesions are quite common. Management of intracranial manifestations vary with lesion site. Intracranial tuberculomas may be associated with seizures, focal neurologic deficits, and intracranial hypertension. Spinal cord tuberculomas may be associated with localized or radicular pain, weakness, sensory loss, and incontinence. Tuberculomas may arise as opportunistic infections, but also occur in immunocompetent individuals." "" + "pituitary hormone deficiency secondary to a granulomatous disease" "" + "cerebral toxoplasmosis" "Infections of the brain caused by the protozoan toxoplasma gondii that primarily arise in individuals with immunologic deficiency syndromes (see also aids-related opportunistic infections). The infection may involve the brain diffusely or form discrete abscesses. Clinical manifestations include seizures, altered mentation, headache, focal neurologic deficits, and intracranial hypertension. (From Joynt, Clinical Neurology, 1998, Ch27, pp41-3)" "" + "toxoplasmosis" "A parasitic disease contracted by the ingestion or fetal transmission of toxoplasma gondii." "" + "cervical incompetence" "A clinical diagnosis presenting with painless cervical dilatation and spontaneous mid-trimester birth in recurrent pregnancies in the absence of spontaneous membrane rupture, bleeding or clinical chorioamnionitis." "" + "cervicofacial actinomycosis" "A form of actinomycosis characterized by slow-growing inflammatory lesions of the lymph nodes that drain the mouth (lumpy jaw), reddening of the overlying skin, and intraperitoneal abscesses." "" + "chickenpox" "A contagious childhood disorder caused by the varicella zoster virus. It is transmitted via respiratory secretions and contact with chickenpox blister contents. It presents with a vesicular skin rash, usually associated with fever, headache, and myalgias. The pruritic fluid-filled vesicles occur 10-21 days after exposure and last for 3-4 days. An additional 3-4 days of malaise follows before the affected individual feels better. An individual is contagious 1-2 days prior to the appearance of the blisters until all blisters are crusted over. Generally, healthy individuals recover without complications." "" + "chlamydia infectious disease" "Infections with bacteria of the genus CHLAMYDIA." "" + "obsolete chromoblastomycosis" "A subcutaneous mycosis that is a chronic subcutaneous fungal infection, which presents as nodular or verrucoid, ulcerated, or crusted skin lesions on exposed areas of skin caused by Fonsecaea pedrosoi, Fonsecaea compacta, Cladophialophora carrionii or Phialophora verrucosa. Histological examination reveals muriform cells (with perpendicular septations) or thick walled, dark-colored, rounded forms (copper pennies) that are characteristic of this infection." "" "true" + "obsolete Churg-Strauss syndrome" "" "true" + "clonorchiasis" "Infection of the biliary passages with clonorchis sinensis, also called Opisthorchis sinensis. It may lead to inflammation of the biliary tract, proliferation of biliary epithelium, progressive portal fibrosis, and sometimes bile duct carcinoma. Extension to the liver may lead to fatty changes and cirrhosis. (From Dorland, 27th ed)" "" + "coccidioidomycosis" "A fungal infection caused by Coccidioides immitis. Affected individuals usually have mild flu-like symptoms. However, pneumonia and systemic involvement with the formation of abscesses may develop as complications of the disease." "" + "coccidiosis" "A parasitic infection caused by Coccidia. It affects livestock, birds and humans. In humans the parasite infests the intestinal tract and may cause watery diarrhea, abdominal pain, fever, nausea and vomiting." "" + "Colorado tick fever" "A febrile illness characterized by chills, aches, vomiting, leukopenia, and sometimes encephalitis. It is caused by the colorado tick fever virus, a reovirus transmitted by the tick Dermacentor andersoni." "" + "infectious disease with epilepsy" "True" + "common cold" "An inflammatory process affecting the nasal mucosa, usually caused by viruses (e.g., rhinovirus, adenovirus, parainfluenza virus, and coronavirus). It is characterized by chills, headaches, mucopurulent nasal discharge, coughing, and facial pain." "" + "not rare" "" + "composite lymphoma" "Coexistence of Hodgkin and non-Hodgkin lymphoma in the same anatomic site." "" + "congenital diaphragmatic hernia" "Congenital diaphragmatic hernia (CDH) is a posterolateral defect of the diaphragm that allows passage of abdominal viscera into the thorax, leading to respiratory insufficiency and persistent pulmonary hypertension with high mortality." "" + "non-syndromic diaphragmatic or abdominal wall malformation" "A diaphragmatic or abdominal wall malformation that is not part of a larger syndrome." "" + "non-syndromic diaphragmatic or thoracic malformation" "" + "congenital nystagmus" "Nystagmus present at birth or caused by lesions sustained in utero or at the time of birth. It is usually pendular, and is associated with albinism and conditions characterized by early loss of central vision. Inheritance patterns may be X-linked, autosomal dominant, or recessive. (Adams et al., Principles of Neurology, 6th ed, p275)" "" + "infectious embryofetopathy" "" + "congenital toxoplasmosis" "Toxoplasma infection that is present from birth." "" + "contagious pleuropneumonia" "A pleuropneumonia of cattle and goats caused by species of mycoplasma." "" + "contagious pustular dermatitis" "An infectious dermatitis of sheep and goats, affecting primarily the muzzle and lips. It is caused by a poxvirus and may be transmitted to humans." "" + "Coronaviridae infectious disease" "Virus diseases caused by coronaviridae." "" + "Coronavinae infectious disease" "Virus diseases caused by the coronavirus genus. Some specifics include transmissible enteritis of turkeys (enteritis, transmissible, of turkeys); feline infectious peritonitis; and transmissible gastroenteritis of swine (gastroenteritis, transmissible, of swine)." "" + "cowpox" "A mild, eruptive skin disease of milk cows caused by cowpox virus, with lesions occurring principally on the udder and teats. Human infection may occur while milking an infected animal." "" + "obsolete coxsackievirus infectious disease" "" "true" + "croup" "Acute upper respiratory airways infection that results in the swelling of the larynx. It is usually caused by parainfluenza viruses. Signs include a characteristic barking cough and stridor." "" + "Cryptococcal meningitis" "Meningeal inflammation produced by cryptococcus neoformans, an encapsulated yeast that tends to infect individuals with acquired immunodeficiency syndrome and other immunocompromised states. The organism enters the body through the respiratory tract, but symptomatic infections are usually limited to the lungs and nervous system. The organism may also produce parenchymal brain lesions (torulomas). Clinically, the course is subacute and may feature headache; nausea; photophobia; focal neurologic deficits; seizures; cranial neuropathies; and hydrocephalus. (From Adams et al., Principles of Neurology, 6th ed, pp721-2)" "" + "cryptococcosis" "An acute or chronic, localized or disseminated infection by Cryptococcus neoformans. Sites of involvement include the lungs, central nervous system and meninges, skin, and visceral organs.--2004" "" + "cyclosporiasis" "A protozoan infection that is caused by Cyclospora cayetanensis, which is most commonly acquired from contaminated food or water, and which is characterized by watery diarrhea and abdominal pain." "" + "obsolete cysticercosis" "" "true" + "obsolete cystoisosporiasis" "" "true" + "dicrocoeliasis" "Infection with flukes of the genus Dicrocoelium." "" + "Dictyocaulus infectious disease" "Infection with nematodes of the genus dictyocaulus. In deer, cattle, sheep, and horses the bronchi are the site of infestation." "" + "trichostrongyloidiasis" "Infection by roundworms of the superfamily trichostrongyloidea, including the genera trichostrongylus; ostertagia; Cooperia, haemonchus; Nematodirus, Hyostrongylus, and dictyocaulus." "" + "helminthiasis, animal" "Infestation of animals with parasitic worms of the helminth class. The infestation may be experimental or veterinary." "" + "dipetalonemiasis" "A parasitic infection caused by genus of filarial worms called Dipetalonema. It produces microfilariae in the blood and body fluids." "" + "filariasis" "A parasitic disease caused by tissue-invasive, vector-borne nematodes which can be found anywhere in the human body and that are transmitted to humans through the bite of an infected mosquito or fly or by consumption of unsafe drinking water and which, depending on the subtype can manifest with lymphedema, dermatitis, subcutaneous edema and eye involvement. The disorder is a major public health problem in many tropical and subtropical countries. Six subtypes have been described in the literature: lymphatic filariasis, onchocerciasis, loiasis, mansonelliasis, dirofilariasis and dracunculiasis caused by Wuchereria bancrofti and filarioidea of the genus Brugia; Onchocerca volvulus; Loa loa; Mansonella; Dirofilaria; and Dracunculus medinensis, respectively. Tropical eosinophilia is considered a frequent manifestation." "" + "obsolete diphyllobothriasis" "" "true" + "obsolete dirofilariasis" "" "true" + "dourine" "A disease of horses and donkeys caused by Trypanosoma equiperdum. The disease occurs in Africa, the Americas, and Asia." "" + "obsolete dracunculiasis" "" "true" + "eastern equine encephalitis" "Eastern equine encephalitis (EEE) is an acute arboviral infection caused by an alphavirus of the Togaviridae family transmitted by an infected mosquito, that is characterized by the onset of flulike symptoms including fever, chills, weakness, headache, vomiting, abdominal pain with diarrhea, myalgia, leucocytosis, and hematuria, rapidly progressing to diffuse central nervous system (CNS) involvement with confusion, somnolence, or even coma. Seizures, which may progress to status epilepticus and neurologic sequelae, cranial nerve palsies, and photophobia may occur. EEE is associated with a high rate of morbidity and mortality." "" + "Ebola hemorrhagic fever" "A viral hemorrhagic fever that is caused by the Ebola virus, which is transmitted by contact with infected animals or humans; it is characterized by high fever, unexplained bleeding, and a high mortality rate." "" + "Filoviridae infectious disease" "Infections with viruses of the family filoviridae. The infections in humans consist of a variety of clinically similar viral hemorrhagic fevers but the natural reservoir host is unknown." "" + "Echovirus infectious disease" "Infectious disease processes, including meningitis, diarrhea, and respiratory disorders, caused by echoviruses." "" + "obsolete egg allergy" "Allergic reaction to eggs that is triggered by the immune system." "" "true" + "emphysematous cholecystitis" "Cholecystitis resulting from infection by gas producing organisms." "" + "encephalitozoonosis" "Infection with fungi of the genus encephalitozoon. Lesions commonly occur in the brain and kidney tubules. Other sites of infection in mammals are the liver; adrenal glands; optic nerves; retina; and myocardium." "" + "microsporidiosis" "A fungal infection caused by Microsporidia. It occurs in immunocompromised patients, causing diarrhea and wasting." "" + "Nematoda infectious disease" "Infections caused by nematode larvae which never develop into the adult stage and migrate through various body tissues. They commonly infect the skin, eyes, and viscera in humans. Ancylostoma brasiliensis causes cutaneous larva migrans. Toxocara causes visceral larva migrans." "" + "enterobiasis" "An infection that is caused by the nematode Enterobius vermicularis; it is characterized predominantly by perianal pruritus." "" + "enzootic pneumonia of calves" "Chronic endemic respiratory disease of dairy calves and an important component of bovine respiratory disease complex. It primarily affects calves up to six months of age and the etiology is multifactorial. Stress plus a primary viral infection is followed by a secondary bacterial infection. The latter is most commonly associated with pasteurella multocida producing a purulent bronchopneumonia. Sometimes present are mannheimia haemolytica; haemophilus somnus and mycoplasma species." "" + "ephemeral fever" "An Ephemerovirus infection of cattle caused by bovine ephemeral fever virus (ephemeral fever virus, bovine). It is characterized by respiratory symptoms, increased oropharyngeal secretions and lacrimation, joint pains, tremor, and stiffness." "" + "epidemic pleurodynia" "An acute, febrile, infectious disease generally occurring in epidemics. It is usually caused by coxsackieviruses B and sometimes by coxsackieviruses A; echoviruses; or other enteroviruses." "" + "epidural abscess" "Circumscribed collections of suppurative material occurring in the spinal or intracranial epidural space. The majority of epidural abscesses occur in the spinal canal and are associated with osteomyelitis of a vertebral body; analgesia, epidural; and other conditions. Clinical manifestations include local and radicular pain, weakness, sensory loss, urinary incontinence, and fecal incontinence. Cranial epidural abscesses are usually associated with osteomyelitis of a cranial bone, sinusitis, or otitis media. (From Adams et al., Principles of Neurology, 6th ed, p710 and pp1240-1; J Neurol Neurosurg Psychiatry 1998 Aug;65(2):209-12)" "" + "epiglottitis" "Inflammation of the epiglottis." "" + "epilepsy with generalized tonic-clonic seizures" "A generalized tonic-clonic seizure." "" + "adolescent/adult-onset epilepsy syndrome" "An epilepsy syndrome that has an onset during the adolescent or adult stage of life." "" + "equine infectious anemia" "Viral disease of horses caused by the equine infectious anemia virus (eiav; infectious anemia virus, equine). It is characterized by intermittent fever, weakness, and anemia. Chronic infection consists of acute episodes with remissions." "" + "eumycotic mycetoma" "A chronic granulomatous inflammation involving the deep dermis and the subcutaneous tissues. It is caused by fungi and actinomycetes." "" + "eunuchism" "The state of being a eunuch, a male without testes or whose testes failed to develop. It is characterized by the lack of mature male germ cells and testicular hormones." "" + "fascioloidiasis" "Infection of cattle and other herbivores with the giant liver fluke Fascioloides magna. It is characterized by extensive destruction of the liver parenchyma." "" + "obsolete fibroepithelial neoplasm" "" "true" + "filarial elephantiasis" "Parasitic infestation of the human lymphatic system by wuchereria bancrofti or brugia malayi. It is also called lymphatic filariasis." "" + "follicular dendritic cell sarcoma" "A neoplasm composed of spindle to ovoid cells which have morphologic and immunophenotypic characteristics of follicular dendritic cells. It affects lymph nodes and other sites including the tonsils, gastrointestinal tract, spleen, liver, soft tissues, skin, and oral cavity. It usually behaves as a low grade sarcoma. Treatment options include complete surgical removal of the tumor with or without adjuvant chemotherapy or radiotherapy. Recurrences have been reported in up to half of the cases." "" + "dendritic cell tumor" "A dendritic cell tumor develops from the cells of the immune system. This condition typically begins in the lymph system and may spread to nearby organs or distant parts of the body (metastasize). There are five subtypes of dendritic cell tumors: follicular dendritic cell tumor, interdigitating dendritic cell tumor, Langerhans' cell histiocytosis, Langerhans' cell sarcoma, and dendritic cell sarcoma not specified otherwise. The symptoms and severity of the condition depend on the subtype and location of the tumor. Treatment may include surgery, radiation therapy, and/or chemotherapy." "" + "foot and mouth disease" "A viral infectious disease that results in infection in cattle and swine, has material basis in foot-and-mouth disease virus, which is transmitted by contaminated fomites, or transmitted by ingestion of food contaminated with infected meat or animal products. The infection results in formation of vesicles in the mouth, or on the feet and has symptom lameness." "" + "gas gangrene" "A severe condition resulting from bacteria invading healthy muscle from adjacent traumatized muscle or soft tissue. The infection originates in a wound contaminated with bacteria of the genus clostridium. C. perfringens accounts for the majority of cases (over eighty percent), while C. noyvi, C. septicum, and C. histolyticum cause most of the other cases." "" + "infection due to clostridium perfringens" "" + "geniculate herpes zoster" "A viral ear infection caused by the spread of varicella-zoster virus to the facial nerves. It is characterized by intense otalgia and a cutaneous vesicular eruption." "" + "genital herpes" "Herpes simplex infection of the genitals, most commonly caused by the herpes simplex-2 virus." "" + "geographic tongue" "A benign condition characterized by the development of irregular patches in the surface of the tongue resulting in a map-like appearance. The patches migrate from day to day and usually resolve without treatment." "" + "geotrichosis" "Infection due to the fungus Geotrichum." "" + "Gerstmann syndrome" "Gerstmann syndrome is a very rare neurological disorder characterized by the specific association of acalculia, finger agnosia, left-right disorientation, and agraphia, which is supposed to be secondary to a focal subcortical white matter damage in the parietal lobe." "" + "glanders" "A condition resulting from infection by Burkholderia mallei, which mainly affects horses." "" + "burkholderia infectious disease" "Infections with bacteria of the genus Burkholderia." "" + "gnathomiasis" "An infection that is caused by nematodes of the genus Gnathostoma, which is commonly found in Southeast Asia, and which is transmitted via the consumption of contaminated raw/undercooked birds, eels, fish, frogs, or reptiles. The pattern of symptoms is species-dependent, and extraintestinal manifestations are due to larval migration (e.g., pulmonary infiltrates, eosinophilic meningitis, or painful, pruritic subcutaneous swellings, and peripheral blood eosinophilia)." "" + "granuloma inguinale" "A condition resulting from infection by Klebsiella granulomati, which is characterized by ulcerative lesions of the genitalia." "" + "Klebsiella infectious disease" "Infections with bacteria of the genus KLEBSIELLA." "" + "haemonchiasis" "Infection with nematodes of the genus haemonchus, characterized by digestive abnormalities and anemia similar to that from hookworm infestation." "" + "hand, foot and mouth disease" "A clinical syndrome that is usually caused by enterovirus infection, and that is characterized by fever, anorexia, and painful sores in the mouth, distal extremities, and/or other sites, including the buttocks." "" + "hantavirus infectious disease" "Any infection caused by a virus of the genus Hantavirus, which is transmitted by aerosolized rodent excreta or rodent bites, that can result in a variety of clinical manifestations from hemorrhagic fever with renal syndrome to a pulmonary syndrome." "" + "obsolete hantavirus pulmonary syndrome" "" "true" + "obsolete HELLP syndrome" "" "true" + "hemopericardium" "An accumulation of blood within the pericardial sac." "" + "henipavirus infectious disease" "Infections with viruses of the genus henipavirus, family paramyxoviridae." "" + "hepatic tuberculosis" "Infection of the liver with species of mycobacterium, most often mycobacterium tuberculosis. It is characterized by localized small tuberculous miliary lesions or tumor-like mass (tuberculoma), and abnormalities in liver function tests." "" + "endocrine tuberculosis" "Infection of the endocrine glands with species of mycobacterium, most often mycobacterium tuberculosis." "" + "hepatitis E virus infection" "Acute inflammation of the liver in humans; caused by hepatitis E virus, a non-enveloped single-stranded rna virus. Similar to hepatitis A, its incubation period is 15-60 days and is enterically transmitted, usually by fecal-oral transmission." "" + "hepatitis D virus infection" "Inflammation of the liver in humans caused by hepatitis delta virus, a defective rna virus that can only infect hepatitis B patients. For its viral coating, hepatitis delta virus requires the hepatitis B surface antigens produced by these patients. Hepatitis D can occur either concomitantly with (coinfection) or subsequent to (superinfection) hepatitis B infection. Similar to hepatitis B, it is primarily transmitted by parenteral exposure, such as transfusion of contaminated blood or blood products, but can also be transmitted via sexual or intimate personal contact." "" + "hepatitis A virus infection" "Acute inflammation of the liver caused by the hepatitis A virus. It is highly contagious and usually contracted through close contact with an infected individual or their feces, contaminated food or water." "" + "herpangina" "A viral infectious disease that results in infection located in mouth, has material basis in Human coxsackievirus A16, has material basis in Human enterovirus 71, has material basis in group B coxsackievirus, or has material basis in echoviruses, which are transmitted by ingestion of food contaminated with feces, transmitted by contact with pharyngeal secretions, or transmitted by droplet spread of oronasal secretions. The infection has symptom fever, has symptom sore throat, and has symptom lesions in the back area of the mouth, particularly the soft palate or tonsillar pillars." "" + "herpes simplex virus gingivostomatitis" "Stomatitis caused by Herpesvirus hominis. It usually occurs as acute herpetic stomatitis (or gingivostomatitis), an oral manifestation of primary herpes simplex seen primarily in children and adolescents." "" + "obsolete herpes simplex virus keratitis" "" "true" + "obsolete histoplasmosis" "" "true" + "HIV enteropathy" "A syndrome characterized by chronic, well-established diarrhea (greater than one month in duration) without an identified infectious cause after thorough evaluation, in an hiv-positive individual. It is thought to be due to direct or indirect effects of hiv on the enteric mucosa. hiv enteropathy is a diagnosis of exclusion and can be made only after other forms of diarrheal illness have been ruled out. (Harrison's Principles of Internal Medicine, 13th ed, pp1607-8; Haubrich et al., Bockus Gastroenterology, 5th ed, p1155)" "" + "AIDS-related disorder" "A non-neoplastic or neoplastic disorder arising as a result of the immunologic defects caused by Autoimmune deficiency Syndrome." "" + "HIV wasting syndrome" "Involuntary weight loss of greater than 10 percent associated with intermittent or constant fever and chronic diarrhea or fatigue for more than 30 days in the absence of a defined cause other than hiv infection. A constant feature is major muscle wasting with scattered myofiber degeneration. A variety of etiologies, which vary among patients, contributes to this syndrome. (From Harrison's Principles of Internal Medicine, 13th ed, p1611)." "" + "HIV-associated nephropathy" "Renal disease in human immunodeficiency virus (HIV)-infected patients. It is characterized by nephrotic syndrome, azotemia, normal to large kidneys on ultrasound images, and focal segmental glomerulosclerosis on renal biopsy findings." "" + "hookworm infectious disease" "Infection of humans or animals with hookworms other than those caused by the genus Ancylostoma or Necator, for which the specific terms ancylostomiasis and necatoriasis are available." "" + "human T-lymphotropic virus 1 infectious disease" "A viral infectious disease that results in increased proliferation of affected CD4 lymphocytes, has material basis in Human T-lymphotropic virus 1, which is transmitted by sexual contact, transmitted by contaminated needles used by intravenous-drug users, and transmitted by breast feeding. The person infected with HTLV-1 eventually develop an often rapidly fatal leukemia, while others will develop a debilitative myelopathy, uveitis, infectious dermatitis, or another inflammatory disorder." "" + "hymenolepiasis" "A parasitic infection caused by tapeworms. Most infected individuals do not have symptoms. When symptoms appear, they include diarrhea, abdominal pain, restlessness, and irritability." "" + "hyperinsulinemic hypoglycemia" "An inherited autosomal recessive syndrome characterized by the disorganized formation of new islets in the pancreas and congenital hyperinsulinism. It is due to focal hyperplasia of pancreatic islet cells budding off from the ductal structures and forming new islets of langerhans. Mutations in the islet cells involve the potassium channel gene kcnj11 or the atp-binding cassette transporter gene abcc8, both on chromosome 11." "" + "hyperprolactinemia" "Abnormally high level of prolactin in the blood." "" + "hyperpituitarism" "Disease of the glandular, anterior portion of the pituitary (pituitary gland, anterior) resulting in hypersecretion of adenohypophyseal hormones such as growth hormone; prolactin; thyrotropin; luteinizing hormone; follicle stimulating hormone ; and adrenocorticotropic hormone. Hyperpituitarism usually is caused by a functional adenoma." "" + "idiopathic CD4-positive T-lymphocytopenia" "A rare immunodeficiency syndrome characterized by the decrease of the CD4-positive lymphocytes below 300 per cubic millimeter in the absence of identifiable immunodeficiency causes. Patients with this syndrome are at an increased risk of opportunistic infections." "" + "inclusion conjunctivitis" "Inflammation of the conjunctiva in a newborn due to Chlamydia trachomatis which was acquired during labor and delivery." "" + "infectious ectromelia" "A viral infection of mice, causing edema and necrosis followed by limb loss." "" + "infectious mononucleosis" "A condition characterized by an increase in mononuclear white blood cells and swollen lymph nodes, which is usually caused by infection with the Epstein-Barr virus." "" + "infectious myxomatosis" "A viral infectious disease that results in infection located in eyes or located in upper respiratory tract of domestic rabbits, has material basis in Myxoma virus, which is transmitted by mosquitos, transmitted by biting flies or transmitted by direct contact. The infection has symptom conjunctivitis with a milky discharge from the inflamed eye and has symptom breathing difficulties." "" + "interdigitating dendritic cell sarcoma" "A neoplastic proliferation of spindle to ovoid cells which show phenotypic features similar to those of interdigitating dendritic cells. The clinical course is generally aggressive. (WHO, 2008)" "" + "pancreatic neuroendocrine neoplasm" "A neoplasm with neuroendocrine differentiation that arises from the pancreas. It includes neuroendocrine tumors (low and intermediate grade) and neuroendocrine carcinomas (high grade)." "" + "pancreatic neoplasm" "A benign or malignant neoplasm involving the pancreas." "" + "obsolete Japanese encephalitis" "" "true" + "Kluver-Bucy syndrome" "Kluver Bucy syndrome is a rare behavioral impairment characterized byinappropriate sexual behaviors and mouthing of objects. Other signs and symptoms, includea diminished ability to visually recognize objects,loss of normal fear and anger responses, memory loss, distractibility, seizures, and dementia. It is associated with damage to the anterior temporal lobes of the brain. Cases have been reported in association with herpes encephalitis and head trauma. Treatment is symptomatic and may include the use of psychotropic medications." "" + "obsolete Langerhans cell sarcoma" "" "true" + "laryngeal tuberculosis" "Extrapulmonary tuberculosis involving the larynx. Signs and symptoms include hoarseness, cough, and odynophagia. The condition is rare." "" + "Lassa fever" "A viral hemorrhagic fever that is caused by the Lassa virus, which is transmitted by contact with infected rodents; it is characterized by fever, headache, malaise, myalgia, and hearing loss." "" + "lassa virus infectious disease" "" + "late congenital syphilis" "" + "latent syphilis" "A stage of syphilis characterized by the serologic evidence of infection by Treponema pallidum without evidence of accompanying signs or symptoms related to the disease." "" + "legionellosis" "Any disease caused by Legionella bacteria." "" + "Legionnaires' disease" "A pneumonia caused by Legionella pneumophila and other Legionella species, which is characterized by fever, cough, progressive respiratory distress, and which is often accompanied by extrapulmonary manifestations." "" + "leptospirosis" "A contagious bacterial infection caused by spirochetes of the genus Leptospira. Humans are infected by contact with water and soil which have been contaminated with animal waste products. The signs and symptoms include an initial flu-like phase, followed by a second phase in which patients may develop meningitis, liver failure and renal failure." "" + "spirochaetales infections" "Infections with bacteria of the order SPIROCHAETALES." "" + "lipid pneumonia" "Pneumonia due to aspiration or inhalation of various oily or fatty substances." "" + "lipoatrophic diabetes" "A rare syndrome characterized by almost complete absence of body fat, accentuated muscularity, insulin-resistant diabetes, hyperlipidemia, hepatomegaly, and hypermetabolism." "" + "listeriosis" "A bacterial infection caused by Listeria monocytogenes. It occurs in newborns, elderly, and immunocompromised patients. The bacteria are transmitted through ingestion of contaminated food. Clinical manifestations include fever, muscle pain, respiratory distress, nausea, diarrhea, neck stiffness, irritability, seizures, and lethargy." "" + "louping ill" "An acute tick-borne arbovirus infection causing meningoencephalomyelitis of sheep." "" + "lumpy skin disease" "A poxvirus infection of cattle characterized by the appearance of nodules on all parts of the skin." "" + "lymph node tuberculosis" "Tuberculosis of the lymph node." "" + "lymphangitis" "Inflammation of the lymphatic vessels." "" + "lymphogranuloma venereum" "Infection with the organism Mycobacterium." "" + "Lynch syndrome" "An autosomal dominant hereditary neoplastic syndrome characterized by the development of colorectal carcinoma and a high risk of developing endometrial carcinoma, gastric carcinoma, ovarian carcinoma, renal pelvis carcinoma, and small intestinal carcinoma. Patients often develop colorectal carcinomas at an early age (mean, 45 years). In the majority of the cases the lesions arise from the proximal colon. At the molecular level, high-frequency microsatellite instability is present." "" + "hereditary nonpolyposis colon cancer" "Hereditary nonpolyposis colon cancer (HNPCC) is a cancer-predisposing condition characterized by the development of colorectal cancer not associated with colorectal polyposis, endometrial cancer, and various other cancers (such as malignant epithelial tumor of ovary, gastric, biliary tract, small bowel, and urinary tract cancer) that are frequently diagnosed at an early age." "" + "mandibular cancer" "A malignant neoplasm involving the mandible" "" + "mansonelliasis" "A parasitic infection caused by the nematode Mansonella. Signs and symptoms include pruritus, headache, fever, arthralgias, and eosinophilia." "" + "obsolete Marburg hemorrhagic fever" "" "true" + "obsolete mast-cell leukemia" "" "true" + "maxillary neoplasm" "Cancer or tumors of the maxilla or upper jaw." "" + "chalazion" "An eyelid cyst caused by the blockage of a meibomian gland." "" + "meningoencephalitis" "Inflammation of the meninges and brain, generally secondary to an infectious cause. Pathogens may be bacterial, viral, fungal, or protozoan." "" + "middle lobe syndrome" "Atelectasis of the right middle pulmonary lobe, with chronic pneumonitis. (Dorland, 27th ed)" "" + "miliary tuberculosis" "I would say the hematogenous widespread dissemination of tuberculosis in the body. The term derives from the chest X-ray image of the tiny (1-5 mm) tuberculosis lesions which are seen through out the lung parenchyma." "" + "milk allergic reaction" "Allergic reaction to milk (usually cow's milk) or milk products. milk hypersensitivity should be differentiated from lactose intolerance, an intolerance to milk as a result of congenital deficiency of lactase." "" + "milker's nodule" "Virus diseases caused by the poxviridae." "" + "Miller Fisher syndrome" "An autoimmune process characterized by the clinical triad of ophthalmoplegia, ataxia, and areflexia." "" + "regional variant of Guillain-Barre syndrome" "" + "mitral valve stenosis" "Narrowing of the left atrioventricular mitral orifice." "" + "mixed connective tissue disease" "Mixed connective tissue disease (MCTD) is a rare autoimmune disorder that is characterized by features commonly seen in three different connective tissue disorders: systemic lupus erythematosus, scleroderma, and polymyositis. Some affected people may also have symptoms of rheumatoid arthritis. Although MCTD can affect people of all ages, it appears to be most common in women under age 30. Signs and symptoms vary but may include Raynaud's phenomenon ; arthritis; heart, lung and skin abnormalities; kidney disease; muscle weakness, and dysfunction of the esophagus. The cause of MCTD is currently unknown. There is no cure but certain medications such as nonsteroidal anti-inflammatory drugs (NSAIDs), corticosteroids and immunosuppresivedrugsmay help manage the symptoms." "" + "secondary interstitial lung disease in childhood and adulthood associated with a connective tissue disease" "True" + "systemic inflammatory disease associated with an acquired peripheral neuropathy" "True" + "overlapping connective tissue disease" "" + "molluscum contagiosum" "A common, benign, usually self-limited viral infection of the skin and occasionally the conjunctivae by a poxvirus (molluscum contagiosum virus). (Dorland, 27th ed)" "" + "mucocutaneous leishmaniasis" "The most common form of leishmaniasis that is transmitted through the bite of female phlebotomine sand flies or after exposure to leishmania parasites. It is characterized by skin lesions at the site of insect bite which typically develop within weeks or months after exposure. The lesions typically progress from small papules to open sores with raised borders and central ulcers which can be covered with scales or crust." "" + "" "true" + "multidrug-resistant tuberculosis" "Tuberculosis disease that is caused by a multidrug-resistant strain of Mycobacterium tuberculosis." "" + "drug-resistant tuberculosis" "" + "multiple chemical sensitivity" "An acquired disorder characterized by recurrent symptoms, referable to multiple organ systems, occurring in response to demonstrable exposure to many chemically unrelated compounds at doses below those established in the general population to cause harmful effects. (Cullen mr. The worker with multiple chemical sensitivities: an overview. Occup Med 1987;2(4):655-61)" "" + "" "true" + "mushroom workers' lung" "An extrinsic allergic alveolitis involving inflammation of the alveoli within the lung caused by hypersensitivity to the inhalation of organic dust particles derived from either the mushrooms, their spores or the compost in which the mushrooms are grown. It is usually caused by the spores of thermophilic actinomycetes." "" + "mycobacterium avium complex disease" "An infection that is caused by Mycobacterium avium." "" + "Mycoplasma pneumoniae pneumonia" "Interstitial pneumonia caused by extensive infection of the lungs (lung) and bronchi, particularly the lower lobes of the lungs, by mycoplasma pneumoniae in humans. In sheep, it is caused by mycoplasma ovipneumoniae. In cattle, it may be caused by mycoplasma dispar." "" + "myelophthisic anemia" "A laboratory test result indicating an abnormal amount of circulating nucleated red blood cells and immature red blood cells." "" + "obsolete myiasis" "" "true" + "necatoriasis" "A disorder caused by an infection with hookworms of the genus Necator, which settle in the host's small intestine, and cause abdominal pain, diarrhea, weight loss, and anemia." "" + "neuroaspergillosis" "Infections of the nervous system caused by fungi of the genus aspergillus, most commonly aspergillus fumigatus. Aspergillus infections may occur in immunocompetent hosts, but are more prevalent in individuals with immunologic deficiency syndromes. The organism may spread to the nervous system from focal infections in the lung, mastoid region, sinuses, inner ear, bones, eyes, gastrointestinal tract, and heart. Sinus infections may be locally invasive and enter the intracranial compartment, producing meningitis, fungal; cranial neuropathies; and abscesses in the frontal lobes of the brain. (From Joynt, Clinical Neurology, 1998, Ch 27, pp62-3)" "" + "neuroschistosomiasis" "Schistosomiasis of the brain, spinal cord, or meninges caused by infections with trematodes of the genus schistosoma (primarily schistosoma japonicum; schistosoma mansoni; and schistosoma haematobium in humans). S. japonicum infections of the nervous system may cause an acute meningoencephalitis or a chronic encephalopathy. S. mansoni and S. haematobium nervous system infections are associated with acute transverse myelitis involving the lower portions of the spinal cord. (From Joynt, Clinical Neurology, 1998, Ch27, pp61-2)" "" + "Newcastle disease" "A condition caused by infection by the Newcastle disease virus, which may be characterized by conjunctivitis, respiratory illness, and diarrhea." "" + "obsolete nocardiosis" "" "true" + "ocular onchocerciasis" "Onchocerciasis affecting the eye." "" + "onchocerciasis" "Onchocerciasis is a form of filariasis, caused by the parasitic worm Onchocerca volvulus, transmitted by the black fly. The infection can either be asymptomatic or manifest as an ocular disease (river blindness) with itchy eyes, erythema, photophobia, onchodermatitis or onchocercal skin disease (classified into acute papular, chronic papular, lichenified, atrophic, and depigmentated) and onchocercomas (over bony prominences). Other classic clinical manifestations are ichthyosis-like lesions (''lizard skin'') and ''hanging groin'', which may be associated with lymphadenopathy." "" + "ocular toxoplasmosis" "Ocular toxoplasmosis is an infection in the eye caused by the parasite, Toxoplasm a gondii. Toxoplasmosis is the most common cause of eye inflammation in the world. Toxoplamosis can beacquired or present at birth (congenital), having crossed the placenta from a newly infected mother to her fetus. Most humans acquire toxoplasmosis by eating raw or undercooked meat, vegetables or milk products, or by coming into contact with infected cat litterbox or sandboxes.In humans,the infectionusually causes no symptoms, and resolves without treatment in a few months. In individuals with compromised immune systems, Toxoplasm a gondii can reactivate to cause disease. Reactivation of a congenital infection was traditionally thought to be the most common cause ofocular toxoplasmosis, but an acquired infection is now considered to be more common. A toxoplasmosis infection that affects the eye usually attacks the retina andinitially resolves without symptoms. However,the inactive parasite maylaterreactivate causing eyepain, blurred vision, and possibly permanent damage, including blindness. Although most cases of toxoplasmosis resolve on their own,for some,inflammation can be treated with antibiotics and steroids." "" + "oesophagostomiasis" "Infection of the intestinal tract with worms of the genus oesophagostomum. This condition occurs mainly in animals other than humans." "" + "obsolete onchocerciasis" "" "true" + "ophthalmic herpes zoster" "Virus infection of the Gasserian ganglion and its nerve branches characterized by pain and vesicular eruptions with much swelling. Ocular involvement is usually heralded by a vesicle on the tip of the nose. This area is innervated by the nasociliary nerve." "" + "opisthorchiasis" "Infection with flukes of the genus Opisthorchis." "" + "oral candidiasis" "Infection of the mucosal lining of the mouth with the fungus Candida albicans." "" + "oral tuberculosis" "Tuberculosis of the mouth, tongue, and salivary glands." "" + "ornithosis" "Disease caused by the Chlamydophila psittaci bacteria, usually transmitted from birds to humans." "" + "obsolete orthomyxoviridae infectious disease" "" "true" + "osteitis fibrosa" "A disorder that is characterized by bone cysts and fractures, resulting from hyperparathyroidism." "" + "ostertagiasis" "A disease of herbivorous mammals, particularly cattle and sheep, caused by stomach worms of the genus ostertagia." "" + "otitis media with effusion" "Otitis media associated with accumulation of fluid in the middle ear." "" + "pancreatic endocrine carcinoma" "An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the pancreas. The mitotic count is more than 20 per 10 HPF. According to the size of the malignant cells, the prominence of the nucleoli, and the amount of cytoplasm, it is classified either as small or large cell neuroendocrine carcinoma." "" + "paracoccidioidomycosis" "A systemic fungal infection caused by Paracoccidioides brasiliensis that is most often seen in immunocompromised patients. It affects the mucous membranes, lymph nodes, lungs and bones." "" + "paragonimiasis" "A parasitic infection caused by trematodes of the Paragonimus genus. Humans are infected from ingestion of raw or undercooked food. It results in chronic lung infection and eosinophilia." "" + "obsolete paratyphoid fever" "" "true" + "parotid disease" "A disease involving the parotid gland." "" + "parotitis" "Inflammation of the parotid glands." "" + "pasteurellosis" "Infections with bacteria of the genus pasteurella." "" + "peanut allergic reaction" "Allergic reaction to peanuts that is triggered by the immune system." "" + "pericardial tuberculosis" "Inflammation of the sac surrounding the heart (pericardium) due to mycobacterium tuberculosis infection. Pericarditis can lead to swelling (pericardial effusion), compression of the heart (cardiac tamponade), and preventing normal beating of the heart." "" + "periodic limb movement disorder" "Excessive periodic leg movements during sleep that cause micro-arousals and interfere with the maintenance of sleep. This condition induces a state of relative sleep deprivation which manifests as excessive daytime hypersomnolence. The movements are characterized by repetitive contractions of the tibialis anterior muscle, extension of the toe, and intermittent flexion of the hip, knee and ankle. (Adams et al., Principles of Neurology, 6th ed, p387)" "" + "peritonsillar abscess" "An abscess that develops in the space surrounding one or both palatine tonsils." "" + "persian gulf syndrome" "Unexplained symptoms reported by veterans of the Persian Gulf War with Iraq in 1991. The symptoms reported include fatigue, skin rash, muscle and joint pain, headaches, loss of memory, shortness of breath, gastrointestinal and respiratory symptoms, and extreme sensitivity to commonly occurring chemicals. (Nature 1994 May 5;369(6475):8)" "" + "peste des petits ruminants infectious disease" "A highly fatal contagious disease of goats and sheep caused by peste-des-petits-ruminants virus. The disease may be acute or subacute and is characterized by stomatitis, conjunctivitis, diarrhea, and pneumonia." "" + "pestivirus infectious disease" "Infections with viruses of the genus pestivirus, family flaviviridae." "" + "phagocyte bactericidal dysfunction" "Disorders in which phagocytic cells cannot kill ingested bacteria; characterized by frequent recurring infection with formulation of granulomas." "" + "phagocytic cell dysfunction" "" + "pharyngoconjunctival fever" "A condition characterized by fever, conjunctivitis, and pharyngitis resulting from infection by adenovirus." "" + "phencyclidine abuse" "The misuse of phencyclidine with associated psychological symptoms and impairment in social or occupational functioning." "" + "phlebotomus fever" "Influenza-like febrile viral disease caused by several members of the bunyaviridae family and transmitted mostly by the bloodsucking sandfly Phlebotomus papatasii." "" + "pityriasis versicolor" "A yeast infection usually manifested as a superficial skin infection. It may also present as a systemic infection in patients who are receiving total parenteral nutrition." "" + "placenta accreta" "The clinical condition in which any part of the placenta invades and is inseparable from the uterine wall. (reVITALize)" "" + "placental insufficiency" "Failure of the placenta to deliver an adequate supply of nutrients and oxygen to the fetus." "" + "Plasmodium falciparum malaria" "Malaria resulting from infection by Plasmodium falciparum." "" + "Plasmodium vivax malaria" "Malaria resulting from infection by Plasmodium vivax." "" + "pleural tuberculosis" "Inflammation of the pleura secondary to an infection with Mycobacterium tuberculosis." "" + "Pneumocystis infectious disease" "Infections with species in the genus pneumocystis, a fungus causing interstitial plasma cell pneumonia (pneumonia, pneumocystis) and other infections in humans and other mammals. Immunocompromised patients, especially those with aids, are particularly susceptible to these infections. Extrapulmonary sites are rare but seen occasionally." "" + "obsolete pneumocystosis" "" "true" + "pneumonic pasteurellosis" "Bovine respiratory disease found in animals that have been shipped or exposed to cattle recently transported. The major agent responsible for the disease is mannheimia haemolytica and less commonly, pasteurella multocida or haemophilus somnus. All three agents are normal inhabitants of the bovine nasal pharyngeal mucosa but not the lung. They are considered opportunistic pathogens following stress, physiological and/or a viral infection. The resulting bacterial fibrinous bronchopneumonia is often fatal." "" + "obsolete poliomyelitis" "" "true" + "polyomavirus infectious disease" "Infections with polyomavirus, which are often cultured from the urine of kidney transplant patients. Excretion of bk virus is associated with ureteral strictures and cystitis, and that of jc virus with progressive multifocal leukoencephalopathy (leukoencephalopathy, progressive multifocal)." "" + "post-thrombotic syndrome" "A condition characterized by a chronically swollen limb, often a leg with stasis dermatitis and ulcerations. This syndrome can appear soon after phlebitis or years later. Postphlebitic syndrome is the result of damaged or incompetent venous valves in the limbs. Distended, tortuous varicose veins are usually present. Leg pain may occur after long period of standing." "" + "postpartum depression" "A type of clinical depression that occurs after childbirth." "" + "endogenous depression" "Depression which is considered strictly biological." "" + "obsolete postpoliomyelitis syndrome" "" "true" + "obsolete progressive multifocal leukoencephalopathy" "" "true" + "pseudorabies" "A highly contagious herpesvirus infection affecting the central nervous system of swine, cattle, dogs, cats, rats, and other animals." "" + "lung sarcomatoid carcinoma" "A rare, aggressive, poorly differentiated, non-small cell lung carcinoma characterized by the presence of a sarcomatoid component often associated with giant cell differentiation. There is a male to female ratio of 4:1. Clinical symptoms include cough, hemoptysis, chest pain, progressive dyspnea and fever secondary to recurrent pneumonia. Cigarette smoking is a major risk factor." "" + "obsolete pyruvate decarboxylase deficiency" "" "true" + "obsolete reactive arthritis" "" "true" + "recurrent pneumonia" "Infections with nontuberculous mycobacteria (atypical mycobacteria): M. kansasii, M. marinum, M. scrofulaceum, M. flavescens, M. gordonae, M. obuense, M. gilvum, M. duvali, M. szulgai, M. intracellulare (see mycobacterium avium complex;), M. xenopi (littorale), M. ulcerans, M. buruli, M. terrae, M. fortuitum (minetti, giae), M. chelonae." "" + "REM sleep behavior disorder" "A disorder characterized by episodes of vigorous and often violent motor activity during rem sleep (sleep, rem). The affected individual may inflict self injury or harm others, and is difficult to awaken from this condition. Episodes are usually followed by a vivid recollection of a dream that is consistent with the aggressive behavior. This condition primarily affects adult males. (From Adams et al., Principles of Neurology, 6th ed, p393)" "" + "renal tuberculosis" "Infection of the kidney due to mycobacteria." "" + "respirovirus infectious disease" "Infections with viruses of the genus respirovirus, family paramyxoviridae. Host cell infection occurs by adsorption, via hemagglutinin, to the cell surface." "" + "Reye syndrome" "An acute and potentially fatal metabolic disorder characterized by cerebral edema, fatty liver and hypoglycemia. It occurs primarily in children and has been associated with the use of aspirin for the treatment of viral infections. However, it can also occur in the absence of aspirin use." "" + "Rhabdoviridae infectious disease" "Virus diseases caused by rhabdoviridae. Important infections include rabies; ephemeral fever; and vesicular stomatitis." "" + "rhinoscleroma" "A granulomatous disease caused by klebsiella rhinoscleromatis infection. Despite its name, this disease is not limited to the nose and nasopharynx but may affect any part of the respiratory tract, sometimes with extension to the lip and the skin." "" + "rhinosporidiosis" "Chronic, localized granulomatous infection of mucocutaneous tissues, especially the nose, and characterized by hyperplasia and the development of polyps. It is found in humans and other animals and is caused by the mesomycetozoean organism rhinosporidium seeberi." "" + "rickettsial pneumonia" "Pneumonia caused by infection with bacteria of the family rickettsiaceae." "" + "pneumonia caused by gram negative bacteria" "" + "obsolete Ritter disease" "" "true" + "roseolovirus infectious disease" "Infection with roseolovirus, the most common in humans being exanthema subitum, a benign disease of infants and young children." "" + "Salmonella gastroenteritis" "Poisoning caused by ingestion of food harboring species of salmonella. Conditions of raising, shipping, slaughtering, and marketing of domestic animals contribute to the spread of this bacterium in the food supply." "" + "obsolete sarcocystosis" "" "true" + "scarlet fever" "A streptococcal infection, mainly occurring among children, that is characterized by a red skin rash, sore throat, and fever." "" + "scirrhous adenocarcinoma" "An infiltrating adenocarcinoma characterized by the presence of desmoplastic stromal reaction." "" + "screw worm infectious disease" "Infection with larvae of the blow fly Cochliomyia hominivorax (Callitroga americanum), a common cause of disease in livestock in the southern and southwestern U.S.A." "" + "obsolete scrub typhus" "" "true" + "septicemic plague" "A plague in which the bacteria have entered the bloodstream." "" + "setariasis" "Infection with nematodes of the genus Setaria. This condition is usually seen in cattle and equines and is of little pathogenic significance, although migration of the worm to the eye may lead to blindness." "" + "obsolete sex cord-stromal tumor" "" "true" + "sick building syndrome" "A group of symptoms that are two- to three-fold more common in those who work in large, energy-efficient buildings, associated with an increased frequency of headaches, lethargy, and dry skin. Clinical manifestations include hypersensitivity pneumonitis (alveolitis, extrinsic allergic); allergic rhinitis (rhinitis, allergic, perennial); asthma; infections, skin eruptions, and mucous membrane irritation syndromes. Current usage tends to be less restrictive with regard to the type of building and delineation of complaints. (From Segen, Dictionary of Modern Medicine, 1992)" "" + "silicosis" "Silicosis is a respiratory disease caused by breathing in (inhaling) silica dust. There are three types of silicosis: Simple chronic silicosis, the most common type of silicosis, results from long-term exposure (usually more than 20years) to low amounts of silica dust. Simple chronic silicosismay causepeople to have difficulty breathing. Accelerated silicosis occurs after 5 to 15 yearsof exposure of higher levels of silica.Swelling of the lungsand other symptoms occur faster in this type of silicosis than in the simple chronic form. Acute silicosis results from short-term exposure (weeks or months) of large amounts of silica.The lungs become very inflamed and can fill with fluid, causing severe shortness of breath and low blood oxygen levels. A cough, weight loss, and fatigue may also be present. Acute silicosis progresses rapidly and can be fatal within months. People who work in jobs where they are exposed to silica dust (mining, quarrying, construction, sand blasting, stone cutting) are at risk of developing this condition." "" + "skeletal tuberculosis" "Tuberculosis of the bones or joints." "" + "sparganosis" "A condition resulting from infection with the second stage larvae of the parasite Spirometra." "" + "spinal stenosis" "Narrowing of the spinal canal." "" + "spleen neoplasm" "A benign or malignant neoplasm that affects the spleen. Representative examples include hemangioma, lymphoma, splenic involvement by leukemia, and angiosarcoma." "" + "splenic tuberculosis" "Infection of the spleen with species of mycobacterium." "" + "sporotrichosis" "The commonest and least serious of the deep mycoses, characterized by nodular lesions of the cutaneous and subcutaneous tissues. It is caused by inhalation of contaminated dust or by infection of a wound." "" + "st. Louis encephalitis" "A viral encephalitis caused by the St. Louis encephalitis virus (encephalitis virus, st. louis), a flavivirus. It is transmitted to humans and other vertebrates primarily by mosquitoes of the genus culex. The primary animal vectors are wild birds and the disorder is endemic to the midwestern and southeastern United States. Infections may be limited to an influenza-like illness or present as an aseptic meningitis or encephalitis. Clinical manifestations of the encephalitic presentation may include seizures, lethargy, myoclonus, focal neurologic signs, coma, and death. (From Adams et al., Principles of Neurology, 6th ed, p750)" "" + "mosquito-borne viral encephalitis" "Viral encephalitis that is transmitted by mosquitos." "" + "staphylococcal pneumonia" "Pneumonia caused by infections with bacteria of the genus staphylococcus, usually with staphylococcus aureus." "" + "staphyloenterotoxemia" "Food poisoning that is caused by Staphylococcal infection." "" + "streptococcal pneumonia" "A febrile disease caused by streptococcus pneumoniae." "" + "strongyloidiasis" "An infection that is caused by nematodes of the genus Strongyloides, most commonly Strongyloides stercoralis, which is a soil-transmitted helminth, and which is characterized by a variety of gastrointestinal, dermatologic, and, occasionally, pulmonary manifestations. The worm's autoinfective life cycle can lead to hyper-infection and life-threatening dissemination in immunocompromised hosts decades after initial infection." "" + "tabes dorsalis" "A form of neurosyphilis characterized by slowly progressive degeneration of the spinal cord. Signs and symptoms include pain, ataxia, loss of coordination, personality changes, blindness, urinary incontinence, dementia, and degeneration of the joints." "" + "theileriasis" "Infection of cattle, sheep, or goats with protozoa of the genus theileria. This infection results in an acute or chronic febrile condition." "" + "thoracic outlet syndrome" "A syndrome resulting from the compression of the blood vessels or nerves in the space between the clavicle and first rib (thoracic outlet). It is caused by car accident injuries or repetitive job or sport-related injuries. Signs and symptoms include pain in the shoulders and neck, numbness in the fingers, and weakening grip." "" + "tick infestation" "Infestations with soft-bodied (Argasidae) or hard-bodied (Ixodidae) ticks." "" + "tick paralysis" "Paralysis caused by a neurotropic toxin secreted by the salivary glands of ticks." "" + "tinea infection" "A skin infection caused by a fungus." "" + "tinea favosa" "A severe, chronic fungal skin infection, usually of the scalp, characterized by the development of thick, yellow cup-shaped crusts and scarring over hair follicles." "" + "tinea pedis" "Dermatological pruritic lesion in the feet, caused by Trichophyton rubrum, T. mentagrophytes, or Epidermophyton floccosum." "" + "torovirus infectious disease" "Infections with viruses of the genus torovirus, family coronaviridae." "" + "toxascariasis" "Infections with nematodes of the genus toxascaris." "" + "toxocariasis" "A parasitic infection caused by worms found in domestic animals. In humans nematode larvae enter the portal system from the small intestine and disseminate in visceral organs causing inflammatory reactions. Signs and symptoms include eosinophilia, hepatomegaly, splenomegaly, and lung infections." "" + "trench fever" "An intermittent fever characterized by intervals of chills, fever, and splenomegaly each of which may last as long as 40 hours. It is caused by bartonella quintana and transmitted by the human louse." "" + "trichinosis" "A parasitic infection caused by larvae of worms of the genus Trichinella. It is transmitted to humans by ingesting raw or undercooked meat from infected animals. Signs and symptoms include abdominal discomfort, nausea, vomiting, fever, diarrhea, headache, coughing, myalgias, arthralgias, and eye swelling." "" + "Trichomonas vaginitis urogenital infection" "A sexually transmitted parasitic infection caused by Trichomonas vaginalis. Symptoms include vaginal discharge, vaginal odor, vaginal itching, and discomfort during intercourse." "" + "trichostrongylosis" "Infestation with nematode worms of the genus trichostrongylus. Humans become infected by swallowing larvae, usually with contaminated food or drink, although the larvae may penetrate human skin." "" + "trichuriasis" "An infection that is caused by the nematode Trichuris trichiura, a soil-transmitted helminth, which is transmitted via food and/or water contaminated with the eggs of the worm. Symptoms are usually mild and include abdominal pain, diarrhea, fatigue, and possibly anemia secondary to blood loss in diarrhea." "" + "tricuspid valve stenosis" "Narrowing or stricture of the tricuspid orifice of the heart." "" + "trombiculiasis" "Infestation with mites of the genus Trombiculidae, whose larvae carry the rickettsial agent of scrub typhus." "" + "tuberculous empyema" "An empyema resulting from infection by Mycobacterium tuberculosis." "" + "pleural empyema" "The presence of pus in the thoracic cavity, between the visceral and parietal pleura." "" + "tuberculous peritonitis" "A form of peritonitis seen in patients with tuberculosis, characterized by lesion either as a miliary form or as a pelvic mass on the peritoneal surfaces. Most patients have ascites, abdominal swelling, abdominal pain, and other systemic symptoms such as fever; weight loss; and anemia." "" + "urinary schistosomiasis" "A bladder infection that occurs as a manifetation of a systemic infection with one or more species of the parasitic worms of the Schistosoma type; this can progress to bladder cancer in time." "" + "vasomotor rhinitis" "Inflammation in the nasal cavity mucosa that results from the abnormal regulation of the blood flow in the nose. It may be caused by temperature fluctuations, air pollution, strong odors, and tobacco smoke. It results in chronic nasal congestion, sneezing, and running nose." "" + "Venezuelan equine encephalitis" "A condition caused by infection by the Venezuelan equine encephalitis virus, which is characterized by headache, fever, myalgia, nausea, and vomiting." "" + "vesicoureteral reflux" "Abnormal flow of urine from the urinary bladder back into the ureters." "" + "vestibular neuronitis" "Idiopathic inflammation of the vestibular nerve, characterized clinically by the acute or subacute onset of vertigo; nausea; and imbalance. The cochlear nerve is typically spared and hearing loss and tinnitus do not usually occur. Symptoms usually resolve over a period of days to weeks. (Adams et al., Principles of Neurology, 6th ed, p304)" "" + "salmonid viral hemorrhagic septicemia" "A systemic infection of various salmonid and a few nonsalmonid fishes caused by Viral hemorrhagic septicemia virus (see novirhabdovirus)," "" + "fish disease" "Diseases of freshwater, marine, hatchery or aquarium fish. This term includes diseases of both teleosts (true fish) and elasmobranchs (sharks, rays and skates)." "" + "viral pneumonia" "Inflammation of the lung parenchyma that is caused by a viral infection." "" + "visna disease" "Demyelinating leukoencephalomyelitis of sheep caused by the visna-maedi virus. It is similar to but not the same as scrapie." "" + "vulvovaginal candidiasis" "Infection of the vulva and vagina with a fungus of the genus CANDIDA. It is a disease associated with HIV infection." "" + "vulvovaginitis" "An inflammatory pathologic process that affects the vulva and the vagina." "" + "Waterhouse-Friderichsen syndrome" "A serious disorder characterized by massive adrenal gland hemorrhage secondary to a bacterial infection, most often Neisseria meningitidis infection. It is manifested with decreased blood pressure, shock, disseminated intravascular coagulation, and adrenocortical insufficiency." "" + "acute adrenal insufficiency" "Acute adrenal insufficiency (AAI) is a rare but severe condition caused by a sudden defective production of adrenal steroids (cortisol and aldosterone). It represents an emergency, thus the rapid recognition and prompt therapy are critical for survival even before the diagnosis is made." "" + "obsolete West Nile encephalitis" "" "true" + "obsolete western equine encephalitis" "" "true" + "Wissler syndrome" "A rheumatic syndrome of possibly allergic origin, usually affecting children and adolescents, and characterized by high fever, exanthema, arthralgia, leukocytosis, and increased sedimentation rate." "" + "rheumatic fever" "A post-bacterial multisystem inflammatory disease occurring as a post-infectious, nonsuppurative sequela of untreated streptococcus pyogenes (Group A streptococcus [GAS]) pharyngitis, and mainly occurs in individuals aged 5 to 15 years. The most common presenting signs are fever, migratory polyarthritis and carditis." "" + "obsolete Zollinger-Ellison syndrome" "" "true" + "Prinzmetal angina" "A syndrome typically consisting of angina (cardiac chest pain) at rest that occurs in cycles. It is caused by vasospasm, a narrowing of the coronary arteries caused by contraction of the smooth muscle tissue in the vessel walls rather than directly by atherosclerosis (buildup of fatty plaque and hardening of the arteries). For a portion of patients Prinzmetal's angina may be a manifestation of vasospastic disorder and is associated with migraine, Raynaud's phenomenon or aspirin-induced asthma." "" + "disorder of acid-base balance" "" + "" "true" + "aldosterone-producing adrenal cortex adenoma" "An adenoma of the adrenal cortex that produces aldosterone. It may be associated with Conn syndrome. Clinical presentation includes hypertension, hypokalemia, and muscle weakness." "" + "" "true" + "breast synovial sarcoma" "A synovial sarcoma (disease) that involves the breast." "" + "cecum adenocarcinoma" "A carcinoma that arises from glandular epithelial cells of the caecum" "" + "diffuse intrinsic pontine glioma" "A neuroglial tumor that arises from the middle portion of the brain stem. It usually affects children and has a poor prognosis." "" + "high grade astrocytic tumor" "An anaplastic astrocytoma (grade III astrocytic tumor) or glioblastoma (grade IV astrocytic tumor)." "" + "gastric adenosquamous carcinoma" "A carcinoma that arises from the stomach and is characterized by the presence of malignant cells with glandular and squamous differentiation." "" + "gastric squamous cell carcinoma" "A rare carcinoma of the stomach resembling squamous cell carcinomas arising elsewhere in the body." "" + "gastric tubular adenocarcinoma" "A variant of gastric adenocarcinoma characterized by prominent dilated or slit-like tubules." "" + "hydrolethalus syndrome" "Hydrolethalus (HLS) is a severe fetal malformation syndrome characterized by craniofacial dysmorphic features, central nervous system, cardiac, respiratory tract and limb abnormalities." "" + "syndrome with a central nervous system malformation as major feature" "True" + "orofacial clefting syndrome" "" + "indeterminate colitis" "It describes patients in whom a diagnosis of ulcerative colitis or Crohn's disease cannot be made based on standard clinical testing, including colonoscopy, imaging, laboratory tests, and biopsy." "" + "lung carcinoid tumor" "A neuroendocrine neoplasm that arises from the lung. It is characterized by the presence of uniform polygonal cells with small or moderate amount of cytoplasm and inconspicuous nucleoli. The cells are usually arranged in organoid and trabecular patterns. It is classified as typical or atypical carcinoid tumor based on the number of mitotic figures and the absence or presence of necrosis. Atypical carcinoid tumors have a worse prognosis." "" + "meningeal tuberculosis" "A bacterial infection of the membranes covering the brain and the spinal cord caused by Mycobacterium tuberculosis." "" + "nephrosclerosis" "Hardening of the kidney due to infiltration by fibrous connective tissue (fibrosis), usually caused by renovascular diseases or chronic hypertension. Nephrosclerosis leads to renal ischemia." "" + "ovarian serous cystadenocarcinoma" "A malignant serous cystic epithelial neoplasm arising from the ovary. It is characterized by the presence of glandular, papillary, or solid structures. Psammoma bodies may be present. In well differentiated cases the malignant epithelial cells resemble the cells of fallopian tube epithelium. In poorly differentiated cases the malignant epithelial cells show anaplastic features." "" + "obsolete pancreatic neuroendocrine tumor" "" "true" + "papillary lung adenocarcinoma" "A morphologic variant of lung adenocarcinoma characterized by the presence of papillary structures." "" + "pleomorphic breast carcinoma" "A rare, aggressive, high grade invasive ductal carcinoma, not otherwise specified. It is characterized by the presence of pleomorphic and bizarre malignant cells that constitute more than 50 percent of the malignant cellular infiltrate." "" + "postweaning multisystemic wasting syndrome" "Pig disease caused by porcine circovirus type 2 (PCV2). Most representative symptoms include wasting, unthriftness, paleness of the skin, respiratory distress, diarrhea and sometimes icterus." "" + "renal leiomyoma" "A leiomyoma that involves the kidney." "" + "urogenital neoplasm" "Tumors or cancer of the urogenital system in either the male or the female." "" + "obsolete thymic lymphoma" "" "true" + "nasal cavity squamous cell carcinoma" "A squamous cell carcinoma that arises from the nasal cavity mucosa. Signs and symptoms include nasal fullness and obstruction, pain, epistaxis, and the presence of a nasal mass." "" + "nasopharyngeal squamous cell carcinoma" "A squamous cell carcinoma that arises from the nasopharynx." "" + "cervical artery dissection" "A tear within the wall of any of the arteries of the neck (carotid artery or vertebral artery) and that allows blood to separate the wall layers. By separating a portion of the wall of the artery (a layer of the Tunica intima or tunica media), a dissection creates two lumens or passages within the vessel, the native or true lumen, and the \"false lumen\" created by the new space within the wall of the artery." "" + "" "true" + "obsolete carbohydrate metabolic disorder" "" "true" + "obsolete lactose intolerance" "" "true" + "lactose intolerance adult type" "Adult onset lactose intolerance" "" + "lactose intolerance" "" + "acinar prostate adenocarcinoma, foamy gland variant" "A variant of acinar prostate adenocarcinoma characterized by the presence of malignant cells with abundant xanthomatous appearing cytoplasm." "" + "acinar prostate mucinous adenocarcinoma" "A usually aggressive morphologic variant of acinar adenocarcinoma of the prostate gland characterized by the presence of lakes of extracellular mucin. This diagnosis applies when at least 25% of the resected tumor contains extracellular mucin." "" + "ACTH-producing pituitary gland adenoma" "An adenoma of the pituitary gland that produces corticotropin. The vast majority of cases are associated with Cushing disease. Clinical manifestations include truncal obesity with thin extremities, thinning of the skin, osteoporosis, and a tendency to bruise easily. Silent or hormonally non-functioning ACTH producing adenomas have also been described. They produce symptoms of a mass-related lesion." "" + "ACTH-producing pituitary gland neoplasm" "An adenoma or carcinoma of the pituitary gland that produces corticotropin." "" + "ACTH-producing pituitary gland carcinoma" "A rare, hormonally functioning or non-functioning pituitary gland adenocarcinoma that produces corticotropin. It may be associated with Cushing disease." "" + "obsolete acute leukemia" "" "true" + "obsolete adenoid cystic breast carcinoma" "An adenoid cystic carcinoma primarily involving the breast. Three morphologic patterns are seen: cribriform, trabecular, and solid. The prognosis is excellent." "" "true" + "adenomatoid odontogenic tumor" "A benign, slow growing neoplasm arising from tooth-forming tissues. The vast majority of cases are intraosseous and most often grow in the maxilla. It is characterized by the presence of odontogenic epithelium which is embedded in a connective tissue stroma. Local excision is curative and recurrences are very rare." "" + "benign neoplasm of oral cavity" "A benign neoplasm that involves the oral cavity." "" + "adrenal gland myelolipoma" "A benign soft tissue lesion arising from the adrenal gland. It is composed of mature adipose and hematopoietic/lymphoid tissues." "" + "adrenal medullary hyperplasia" "A hyperplasia that involves the adrenal medulla." "" + "AIDS-related primary central nervous system lymphoma" "A lymphoma (non-Hodgkin or Hodgkin) arising from the central nervous system and occurring in HIV-positive patients." "" + "virus associated tumor" "" + "ameloblastic carcinoma" "A rare, cytologically malignant ameloblastoma that may metastasize." "" + "odontogenic neoplasm" "A benign or malignant neoplasm arising from tooth-forming tissues. It occurs in the maxillofacial skeleton or the gingiva. Benign tumors are slow growing and are not associated with specific clinical symptoms. Pain is absent or slight. Malignant tumors are usually associated with rapid swelling and pain." "" + "obsolete ampulla of vater carcinoma" "" "true" + "anal melanoma" "A melanoma arising from the anus. Clinical presentation includes rectal bleeding, tenesmus, pain, and change in bowel habit. The prognosis is usually poor." "" + "obsolete anaplastic large cell lymphoma, ALK-negative" "" "true" + "obsolete angioleiomyoma" "" "true" + "angiomyxoma" "A benign soft tissue neoplasm characterized by the presence of neoplastic spindle and stellate cells in a myxoid stroma." "" + "appendix adenocarcinoma" "A carcinoma that arises from glandular epithelial cells of the vermiform appendix." "" + "appendix adenoma" "A circumscribed neoplasm arising from the glandular epithelium of the appendix. Morphologically, it is characterized by a proliferation of neoplastic glandular cells and it is associated with dysplasia. According to the growth pattern, it may be classified as tubular, villous, or tubulovillous. The dysplasia is classified as mild, moderate, or severe." "" + "appendix goblet cell carcinoid" "An invasive mixed adenoneuroendocrine carcinoma of the appendix characterized by a submucosal growth and the presence of neoplastic signet-ring cells resembling goblet cells of the intestine." "" + "combined carcinoid and adenocarcinoma" "A malignant epithelial neoplasm composed of a mixture of neuroendocrine cells with morphologic and immunohistochemical characteristics of carcinoid tumor and malignant glandular cells." "" + "appendix hyperplastic polyp" "A non-neoplastic polyp that arises from the appendix. It is characterized by the presence of elongated serrated crypts and the absence of atypia or dysplasia." "" + "hyperplastic polyp" "A polyp found mainly in the stomach and colon. Microscopically, it is characterized by elongated, serrated crypts lined by proliferative epithelium. Hyperplastic polyps are traditionally considered non-neoplastic, but ras mutation is common, clonality has been demonstrated and biochemical abnormalities and epidemiological associations that occur in colorectal adenomas and carcinomas have been found (WHO Tumors of the Digestive System, 2000)." "" + "polyp of large intestine" "A polyp that involves the large intestine." "" + "appendix neuroendocrine tumor G1" "A well differentiated, low grade tumor with neuroendocrine differentiation that arises from the appendix. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent." "" + "cecum neuroendocrine tumor G1" "A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the cecum. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent." "" + "neuroendocrine tumor of the appendix, well differentiated, low or intermediate grade" "A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the appendix." "" + "appendix villous adenoma" "An adenoma arising from the appendix. It is characterized by the presence of villous epithelial structures and it is associated with dysplasia." "" + "ascending colon neuroendocrine tumor G1" "A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the ascending colon. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent." "" + "colon neuroendocrine tumor G1" "A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the colon. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent." "" + "Askin tumor" "A primitive neuroectodermal tumor (small round blue cell tumor) of the thorax which can involve the periosteum, thoracic wall and/or pleura though it spares the lung parenchyma." "" + "atypical carcinoid tumor" "A carcinoid tumor characterized by a high mitotic rate, often associated with the presence of necrosis and nuclear pleomorphism." "" + "atypical endometrial hyperplasia" "An endometrial hyperplasia characterized by cytologic and architectural changes which may lead to endometrial carcinoma. Despite the atypical features and possible course, there is debate on whether to consider this a neoplasm. The relationship with endometrial intraepithelial neoplasia is also unclear." "" + "atypical lobular breast hyperplasia" "Lobular neoplasia characterized by lobular epithelial proliferation that does not completely fill the lobular unit of the breast." "" + "obsolete B-cell prolymphocytic leukemia" "" "true" + "obsolete Bartholin gland carcinoma" "" "true" + "obsolete Bartholin gland squamous cell carcinoma" "" "true" + "benign adrenal gland pheochromocytoma" "A sporadic or familial pheochromocytoma that is confined to the adrenal gland and does not have any metastatic potential. The majority of cases are sporadic, and usually unilateral. Familial cases are usually bilateral." "" + "benign neoplasm of adrenal medulla" "A benign neoplasm that involves the adrenal medulla." "" + "benign carotid body paraganglioma" "A carotid body paraganglioma that is confined to the site of origin, without metastatic potential." "" + "benign neoplasm of eye" "A benign neoplasm that involves the eye." "" + "malignant biphasic mesothelioma" "A malignant neoplasm arising from mesothelial cells in the pleura. It is characterized by the presence of neoplastic epithelioid cells and sarcomatoid features." "" + "obsolete bladder adenocarcinoma" "" "true" + "bladder inflammatory myofibroblastic tumor" "A multinodular intermediate fibroblastic neoplasm arising from the bladder. It is characterized by the presence of spindle-shaped fibroblasts and myofibroblasts, and a chronic inflammatory infiltrate composed of eosinophils, lymphocytes and plasma cells." "" + "obsolete bladder small cell neuroendocrine carcinoma" "" "true" + "obsolete bladder squamous cell carcinoma" "" "true" + "blast phase chronic myelogenous leukemia, BCR-ABL1 positive" "An advanced phase of chronic myelogenous leukemia. It is characterized by: 1. the presence of blasts in the peripheral blood or bone marrow that are at least 20% of the peripheral blood white cells or of the nucleated cells in the bone marrow respectively, or 2. an extramedullary proliferation of blasts, and/or 3. when there are large aggregates and clusters of blasts in the bone marrow biopsy specimen (adapted from WHO, 2001)." "" + "chronic myelogenous leukemia, BCR-ABL1 positive" "A chronic myeloproliferative neoplasm characterized by the expression of the BCR-ABL1 fusion gene. It presents with neutrophilic leukocytosis. It can appear at any age, but it mostly affects middle aged and older individuals. Patients usually present with fatigue, weight loss, anemia, night sweats, and splenomegaly. If untreated, it follows a biphasic or triphasic natural course; an initial indolent chronic phase which is followed by an accelerated phase, a blast phase, or both. Allogeneic stem cell transplantation and tyrosine kinase inhibitors delay disease progression and prolong overall survival." "" + "breast diffuse large B-cell lymphoma" "A diffuse large B-cell lymphoma that arises from the breast. It is the most common type of primary breast lymphoma." "" + "breast fibrosis" "Breast fibrocystic change characterized by the prominence of fibrotic changes in the parenchyma." "" + "breast mucosa-associated lymphoid tissue lymphoma" "An extranodal marginal zone B-cell lymphoma of mucosa associated lymphoid tissue that arises from the breast as a primary tumor." "" + "MALT lymphoma" "An indolent, extranodal type of non-Hodgkin lymphoma composed of small B-lymphocytes (centrocyte-like cells). The gastrointestinal tract is the most common site of involvement. Other common sites of involvement include lung, head and neck, ocular adnexae, skin, thyroid, and breast. Gastric involvement is associated with the presence of H. pylori infection. (WHO, 2001)" "" + "C-cell hyperplasia" "Neoplastic or reactive proliferation of the C-cells in the thyroid gland. The neoplastic C-cell hyperplasia is associated with familial medullary thyroid gland carcinoma and multiple endocrine neoplasia type II and IIB. Morphologically, it is characterized by the presence of clusters of intrafollicular C-cells with atypical cytologic features. The reactive C-cell hyperplasia is also known as physiological or secondary C-cell hyperplasia and it is associated with conditions that cause hypercalcemia (e.g., hyperparathyroidism)." "" + "calcifying fibrous tumor" "A benign well-circumscribed paucicellular lesion arising from the soft tissues. It is characterized by the presence of fibroblasts, lymphoplasmacytic infiltrates, collagenous stroma formation, psammoma bodies, and dystrophic calcifications." "" + "calcifying nested epithelial stromal tumor of the liver" "A rare malignant tumor that arises from the liver and occurs in children. It is characterized by the presence of nested epithelioid and spindle cells. Desmoplasia, calcifications, and bone formation may also be present." "" + "cardiac rhabdomyoma" "A well circumscribed benign tumor arising from cardiac muscle. It usually affects children and may be present in the fetus. Depending on tumor location and size, cardiac, respiratory, and hemodynamic parameters may be affected. There is an association between cardiac rhabdomyoma and tuberous sclerosis." "" + "rhabdomyoma" "A benign mesenchymal tumor arising from skeletal or cardiac muscle." "" + "" "true" + "" "true" + "obsolete cecum villous adenoma" "" "true" + "central nervous system anaplastic large cell lymphoma" "An anaplastic large cell lymphoma that affects the brain, meninges, or spinal cord." "" + "anaplastic large cell lymphoma" "Anaplastic large cell lymphoma (ALCL) is a rare and aggressive peripheral T-cell non-Hodgkin lymphoma, belonging to the group of CD30-positive lymphoproliferative disorders, which affects lymph nodes and extranodal sites. It is comprised of two sub-types, based on the expression of a protein called anaplastic lymphoma kinase (ALK): ALK positive and ALK negative ALCL." "" + "anaplastic cancer" "" + "central nervous system non-hodgkin lymphoma" "A non-Hodgkin lymphoma that arises from the central nervous system." "" + "obsolete central nervous system lymphoma" "" "true" + "cerebellar liponeurocytoma" "A rare, WHO grade II cerebellar neoplasm which shows consistent neuronal, variable astrocytic and focal lipomatous differentiation. It occurs in adults, has a low proliferative potential and usually has a favorable prognosis. (Adapted from WHO)" "" + "neuronal tumor" "" + "cervical adenoid basal carcinoma" "A rare low grade carcinoma that arises from the cervix. It is characterized by the presence of nests of basaloid cells with focal glandular formations." "" + "cervical adenoid cystic carcinoma" "A rare carcinoma that arises from the cervix. It is characterized by the presence of cystic spaces surrounded by palisaded epithelial cells. The cystic spaces contain eosinophilic hyaline material or mucin. Nuclear pleomorphism, necrotic changes, and a high mitotic rate are also present." "" + "adenoid cystic carcinoma of the cervix uteri" "A adenoid cystic carcinoma that involves the uterine cervix." "" + "obsolete cervical endometrioid adenocarcinoma" "" "true" + "cervical intraepithelial neoplasia grade 2/3" "A neoplastic process in the cervix characterized by morphologic features of both moderate and severe intraepithelial neoplasia." "" + "cervical intraepithelial neoplasia" "" + "cervical large cell neuroendocrine carcinoma" "A rare, aggressive neuroendocrine carcinoma that arises from the cervix and is characterized by the presence of malignant cells with abundant cytoplasm, large nuclei, and prominent nucleoli." "" + "cervical metaplasia" "Metaplastic changes in the cervical glandular or squamous epithelium." "" + "cervical mucinous adenocarcinoma, minimal deviation variant" "A rare, extremely well differentiated cervical mucinous adenocarcinoma in which most of the neoplastic glands cannot be distinguished from the normal endocervical glands." "" + "cervical villoglandular adenocarcinoma" "A cervical adenocarcinoma characterized by the presence of a prominent villoglandular pattern." "" + "cervical small cell carcinoma" "A small cell carcinoma arising from the cervix." "" + "chondroid hamartoma" "A hamartoma that is characterized by the presence of chondroid elements." "" + "chronic eosinophilic leukemia, not otherwise specified" "A rare myeloproliferative neoplasm characterized by a clonal proliferation of eosinophilic precursors resulting in persistently increased numbers of eosinophils in the blood, marrow and peripheral tissues. Since acute eosinophilic leukemia is at best exceedingly rare, the term eosinophilic leukemia is normally used as a synonym for chronic eosinophilic leukemia. In cases in which it is impossible to prove clonality and there is no increase in blast cells, the diagnosis of \"idiopathic hypereosinophilic syndrome\" is preferred. (WHO, 2001)" "" + "obsolete chronic neutrophilic leukemia" "" "true" + "clear cell papillary cystadenoma" "A benign cystic glandular epithelial neoplasm characterized by the presence of neoplastic clear or hobnail cells which form papillary structures. There is no evidence of stromal invasion." "" + "colon Burkitt lymphoma" "A rare Burkitt lymphoma that arises from the colon." "" + "Burkitt lymphoma" "Burkitt lymphoma is a rare form of malignant mature B-cell non-Hodgkin lymphoma." "" + "familial colorectal cancer" "Familial colon cancer is a cluster of colon cancer within a family. Most cases of colon cancer occur sporadically in people with little to no family history of the condition. Approximately 3-5% of colon cancer is considered 'hereditary' and is thought to be caused by an inherited predisposition tocolon cancer that is passed down through a family in an autosomal dominant or autosomal recessive manner. In some of these families, the underlying genetic cause is not known; however, many of these cases are caused by changes (mutations) in the APC , MYH , MLH1 , MSH2 , MSH6 , PMS2 , EPCAM , PTEN , STK11 , SMAD4 , BMPR1A , NTHL1 , POLE , and POLD1 genes (which are associated with hereditary cancer syndromes). An additional 10-30% of people diagnosed with colon cancer have a significant family history of the condition but have no identifiable mutation in a gene known to cause a hereditary predisposition to colon cancer. These clusters of colon cancer are likely due to a combination of gene(s) and other shared factors such as environment and lifestyle. High-risk cancer screening and other preventative measures such as prophylactic surgeries are typically recommended in people who have an increased risk for colon cancer based on their personal and/or family histories." "" + "colon dysplasia" "A morphologic finding indicating the presence of dysplastic glandular epithelial cells in the colonic mucosa. There is no evidence of invasion." "" + "colon inflammatory polyp" "A non-neoplastic polypoid lesion in the colon. It may arise in a background of inflammatory bowel disease or colitis. It is characterized by the presence of a distorted epithelium, inflammation, and fibrosis." "" + "polyp of colon" "A polyp that involves the colon." "" + "colon juvenile polyp" "A non-neoplastic hamartomatous polyp that arises from the colon. It is characterized by the presence of tortuous and cystically dilated glands, edematous changes, and inflammation." "" + "colorectal juvenile polyp" "A non-neoplastic hamartomatous polyp that arises from the colon and rectum. It is characterized by the presence of tortuous and cystically dilated glands, edematous changes, and inflammation." "" + "colon mucosa-associated lymphoid tissue lymphoma" "An extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue that arises from the colon." "" + "colorectal neuroendocrine tumor G1" "A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the colon or rectum. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent." "" + "colon sessile serrated adenoma/polyp" "A polyp that arises from the colon. It is characterized by the presence of serrated glands and the absence of generalized dysplasia. Some authors have suggested that it is a precursor lesion for some colonic adenocarcinomas with microsatellite instability." "" + "colorectal sessile serrated adenoma/polyp" "A polyp that arises from the colon or rectum. It is characterized by the presence of serrated glands and the absence of generalized dysplasia. Some authors have suggested that it is a precursor lesion for some colorectal adenocarcinomas with microsatellite instability." "" + "colorectal squamous cell carcinoma" "A very rare colorectal carcinoma characterized by the presence of a malignant squamous cell infiltrate." "" + "colorectal diffuse large B-cell lymphoma" "A diffuse large B-cell lymphoma that arises from the colon or rectum." "" + "colorectal gastrointestinal stromal tumor" "A gastrointestinal stromal tumor that arises from the colon or rectum. The majority of cases have spindle cell morphology. Gastrointestinal stromal tumors of the colon are usually advanced upon detection and tend to have a poor prognosis; gastrointestinal stromal tumors of the rectum usually have an aggressive clinical course." "" + "colorectal hamartoma" "A non-neoplastic, hamartomatous polyp that arises from the colon and rectum. This group includes the juvenile polyp, Peutz-Jeghers polyp, and Cowden-associated polyp." "" + "gastrointestinal hamartoma" "A non-neoplastic, hamartomatous polyp that arises from the stomach, small intestine, and large intestine. This group includes the juvenile polyps and Peutz-Jeghers polyps." "" + "juvenile polyp" "A non-neoplastic hamartomatous polyp that arises from the stomach and intestinal tract. It is characterized by the presence of tortuous and cystically dilated glands, edematous changes, and inflammation." "" + "colorectal serrated adenocarcinoma" "A rare, invasive colorectal adenocarcinoma characterized by the presence of a malignant infiltrate with serrated glandular architecture." "" + "columnar cell hyperplasia of the breast" "A columnar cell lesion characterized by the presence of enlarged terminal ductal lobular units with dilated acini. The acini are lined by more than two layers of columnar epithelial cells. Prominent apical cytoplasmic snouts are present. Secretions are often present in the lumina of the dilated acini." "" + "obsolete common hematopoietic neoplasm" "" "true" + "complex endometrial hyperplasia" "A hyperplasia characterized by excessive proliferation of endometrial cells, resulting in the formation of complex epithelial structures. Epithelial atypia may be present or absent." "" + "endometrial hyperplasia" "A proliferation of the endometrial cells resulting in glandular enlargement and budding. The proliferation may or may not be associated with atypia of the endometrial cells. When the hyperplastic changes are excessive, there is formation of complex epithelial structures (complex endometrial hyperplasia)." "" + "obsolete conjunctival melanoma" "" "true" + "conjunctival nevus" "A benign melanocytic neoplasm that arises from the conjunctiva." "" + "conjunctival squamous cell carcinoma" "A low-grade squamous cell carcinoma that arises from the conjunctiva. It is the most common primary malignant tumor that arises from the conjunctiva. It usually affects older white males. Excessive exposure to sunlight is a risk factor. Patients may present with a mass, red eye, or pain." "" + "cortisol-producing adrenal cortex adenoma" "An adenoma of the adrenal cortex that produces cortisol. It may be associated with Cushing syndrome. Clinical presentation includes weight gain, round face, easy bruising, muscle weakness, emotional changes, hirsutism, and hypertension." "" + "obsolete craniopharyngioma" "" "true" + "cribriform carcinoma" "A carcinoma characterized by the presence of a cribriform architectural pattern. Representative examples include the intraductal cribriform breast carcinoma and invasive cribriform breast carcinoma." "" + "obsolete cutaneous undifferentiated pleomorphic sarcoma" "" "true" + "dedifferentiated solitary fibrous tumor" "A solitary fibrous tumor characterized by the presence of areas of abrupt transition to high grade sarcoma." "" + "desmoplastic ameloblastoma" "An ameloblastoma with prominent desmoplastic stroma that causes compression of the neoplastic epithelial islands." "" + "digestive system mixed adenoneuroendocrine carcinoma" "A carcinoma that arises from the digestive system and is characterized by the presence of a malignant glandular epithelial component and a malignant neuroendocrine component. At least 30% of either component should be present for the diagnosis to be made." "" + "disseminated peritoneal leiomyomatosis" "A rare, benign process that affects the peritoneal cavity and is characterized by the formation of multiple small nodules that are composed of well differentiated smooth muscle. It usually affects adults in their late reproductive years. Most patients are asymptomatic. The tumor nodules may regress spontaneously." "" + "primary peritoneal tumor" "" + "ductal breast carcinoma in situ and lobular carcinoma in situ" "The co-existence of ductal and lobular carcinoma in situ in the breast, without evidence of stromal invasion." "" + "ductal or ductular proliferation" "A morphologic finding indicating the presence of typical or atypical proliferation of biliary epithelial cells in the portal tracts of the liver." "" + "carcinoma of duodenum" "A carcinoma that involves the duodenum." "" + "duodenal villous adenoma" "A neoplasm that arises from the glandular epithelium of the duodenum. It is characterized by a villous architectural pattern. The neoplastic glandular cells have dysplastic features." "" + "EBV-positive T-cell lymphoproliferative disorder of childhood" "An Epstein-Barr virus-associated mature T-cell lymphoproliferative group of disorders affecting children. It occurs with increased frequency in Asians and Native Americans. It includes the systemic EBV-positive T-cell lymphoma of childhood and the hydroa vacciniforme-like lymphoma." "" + "endolymphatic sac tumor" "An aggressive epithelial neoplasm arising from the temporal bone. It is characterized by the presence of a papillary pattern, and has been described as an adenoma or carcinoma in the literature. There is disagreement regarding its relationship to endolymphatic sac tumor." "" + "endometrial clear cell adenocarcinoma" "A clear cell adenocarcinoma that involves the endometrium." "" + "endometrial hyperplasia without atypia" "Simple or complex endometrial hyperplasia characterized by the absence of epithelial atypia." "" + "obsolete endometrial mucinous adenocarcinoma" "A primary, usually low grade adenocarcinoma of the endometrium in which the majority of the malignant epithelial cells contain abundant intracytoplasmic mucin." "" "true" + "endometrial polyp" "A benign nodular lesion protruding above the surface of the endometrium. It is composed of a fibrous stroma that contains thick-walled blood vessels and dilated endometrial glands. Polypectomy is the treatment of choice. Only few cases with recurrence have been reported." "" + "endometrial serous adenocarcinoma" "A high grade, aggressive adenocarcinoma arising from the endometrium. It is characterized by the presence of complex papillary patterns with cellular budding. Atypical mitoses, necrosis, and psammoma bodies may be present. It is classified as type II endometrial carcinoma and it is not associated with endometrial hyperplasia. It tends to invade deeply into the myometrium and spreads into the lymphatic vessels. Patients frequently present with spread of the tumor beyond the uterus at the time of diagnosis. The prognosis is usually poor." "" + "endometrial small cell carcinoma" "A primary carcinoma of the endometrium that is similar to the small cell carcinoma of the lung, histologically." "" + "endometrial undifferentiated carcinoma" "A primary carcinoma of the endometrium characterized by the presence of malignant cells that lack evidence of differentiation." "" + "ethmoid sinus adenoid cystic carcinoma" "An adenoid cystic carcinoma that affects the ethmoid sinus." "" + "paranasal sinus adenoid cystic carcinoma" "A rare adenoid cystic carcinoma that arises from the paranasal sinuses. It usually has an aggressive clinical course characterized by high recurrence rates and distant metastases." "" + "obsolete extramammary Paget disease" "" "true" + "obsolete extraskeletal Ewing sarcoma/peripheral primitive neuroectodermal tumor" "" "true" + "fallopian tube serous adenocarcinoma" "A serous adenocarcinoma that arises from the fallopian tube. It is usually a high grade invasive adenocarcinoma." "" + "fibrous hamartoma of infancy" "A poorly circumscribed neoplasm arising from the soft tissues in infants. It is characterized by the presence of bland fibroblastic spindle cells, collagenous stroma formation, primitive mesenchymal round cells, and mature fat cells. These components combined form a distinct organoid pattern." "" + "mesenchymal hamartoma" "" + "flat urothelial hyperplasia" "A type of hyperplasia that is characterized by a marked thickening of the urinary tract epithelium. There is no evidence of cytologic atypia. -- 2003" "" + "urothelial hyperplasia" "Hyperplasia of the transitional epithelium of the urinary tract. Morphologically it is subdivided into flat and papillary hyperplasia. -- 2003" "" + "floor of mouth mucoepidermoid carcinoma" "A mucoepidermoid carcinoma of the oral cavity that arises from the floor of the mouth." "" + "carcinoma of floor of mouth" "A carcinoma that involves the mouth floor." "" + "oral cavity mucoepidermoid carcinoma" "A mucoepidermoid carcinoma arising from the minor salivary glands in the oral cavity. It is often asymptomatic and detected during a routine dental examination." "" + "follicular variant thyroid gland papillary carcinoma" "A nonencapsulated variant of papillary carcinoma of the thyroid gland characterized by the predominance of follicular structures. The malignant follicular cells display the nuclear features that characterize the papillary adenocarcinomas of the thyroid gland." "" + "gallbladder adenoma" "A polypoid epithelial neoplasm that arises from the gallbladder. According to the neoplastic growth pattern, it is classified as tubular, tubulopapillary, or papillary." "" + "inherited digestive tract tumor" "" + "polyp of gallbladder" "A polyp that involves the gall bladder." "" + "gallbladder adenosquamous carcinoma" "A carcinoma that arises from the gallbladder. It is characterized by the presence of glandular and squamous malignant epithelial components." "" + "gallbladder squamous cell carcinoma" "A carcinoma that arises from the gallbladder. It is composed entirely by malignant squamous epithelial cells." "" + "gallbladder biliary intraepithelial neoplasia" "A neoplastic, non-invasive lesion that affects the gallbladder epithelium. It is characterized by the presence of atypical epithelial cells with an increased nuclear/cytoplasmic ratio, nuclear hyperchromasia, and loss of nuclear polarity." "" + "gallbladder small cell neuroendocrine carcinoma" "An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the gallbladder. It is characterized by the presence of malignant small cells." "" + "gastric adenoma" "A neoplastic polyp that arises from the stomach. This category includes intestinal-type adenomatous polyps, gastric-type adenomas, and fundic gland polyps." "" + "stomach polyp" "A polyp that arises from the stomach. This category includes neoplastic polyps (intestinal-type adenomatous polyps, gastric-type adenomas, and fundic gland polyps), and non-neoplastic polyps (hyperplastic polyps and hamartomatous polyps)." "" + "gastric choriocarcinoma" "A malignant germ cell tumor that arises from the stomach. It is characterized by the presence of syncytiotrophoblast and cytotrophoblast cellular components. It is often associated with lymph node and hematogenous metastases." "" + "gastric diffuse large B-cell lymphoma" "An extranodal diffuse large B-cell lymphoma that arises from the stomach with the bulk of the mass located in the stomach." "" + "gastric hamartomatous polyp" "A non-neoplastic polyp that arises from the stomach and is characterized by the presence of connective tissue stroma overgrowth and cystic formations." "" + "gastric mantle cell lymphoma" "A mantle cell lymphoma that affects the stomach. It may arise as a solitary mass or it may be a component of multifocal lymphomatous polyposis of the gastrointestinal tract. It usually has an aggressive clinical course." "" + "mantle cell lymphoma" "Mantle cell lymphoma is a rare form of malignant non-Hodgkin lymphoma affecting B lymphocytes in the lymph nodes in a region called the ``mantle zone''." "" + "gastric non-hodgkin lymphoma" "An extranodal non-Hodgkin lymphoma that arises from the stomach with the bulk of the mass located in the stomach. The vast majority of cases are diffuse large B-cell lymphomas and B-cell lymphomas of the mucosa-associated lymphoid tissue." "" + "gastric mucosa-associated lymphoid tissue lymphoma" "A low grade, indolent B-cell lymphoma, usually associated with Helicobacter pylori infection. Morphologically it is characterized by a dense mucosal atypical lymphocytic (centrocyte-like cell) infiltrate with often prominent lymphoepithelial lesions and plasmacytic differentiation. Approximately 40% of gastric MALT lymphomas carry the t(11;18)(q21;q21). Such cases are resistant to Helicobacter pylori therapy." "" + "hereditary gastric cancer" "Hereditary gastric cancer refers to the occurrence of gastric cancer in a familial context and is described as two or more cases of gastric cancer in first or second degree relatives with at least one case diagnosed before the age of 50. Familial clustering is observed in 10% of all cases of gastric cancer, and includes hereditary diffuse gastric cancer (early onset diffuse-type gastric cancer), gastric adenocarcinoma and proximal polyposis of the stomach and familial intestinal gastric cancer (familial clustering of intestinal type gastric adenocarcinoma). Hereditary gastric cancer can also occur in other hereditary cancer syndromes such as Lynch syndrome, Li-Fraumeni syndrome, familial adenomatous polyposis and juvenile polyposis syndrome." "" + "gastric neuroendocrine tumor G1" "A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the stomach. The vast majority of cases arise from the corpus-fundus region. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent. It may be associated with autoimmune chronic atrophic gastritis, multiple endocrine neoplasia type 1, or it may be sporadic." "" + "gastric papillary adenocarcinoma" "A variant of gastric adenocarcinoma with exophytic growth and elongated finger-like processes lined by cylindrical or cuboidal cells supported by fibrovascular connective tissue cores." "" + "gastric small cell neuroendocrine carcinoma" "An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the stomach. It is characterized by the presence of malignant small cells." "" + "gastrointestinal polyp" "A polypoid tumor that arises from any part of the gastrointestinal tract and protrudes into the lumen. Representative examples include adenomatous polyps, hyperplastic polyps, and hamartomatous polyps." "" + "giant cell tumor of soft tissue" "A painless, well circumscribed tumor arising in soft tissue, usually of the upper and lower extremities. Morphologically, it is characterized by a multinodular growth pattern. The cellular infiltrate is composed of mononuclear round or oval cells and multinucleated osteoclast-like giant cells, in a rich vascular stroma. It rarely metastasizes." "" + "grade III prostatic intraepithelial neoplasia" "High grade prostatic intraepithelial neoplasia characterized by the presence of severe architectural and cytologic abnormalities." "" + "obsolete granular cell tumor of the neurohypophysis" "" "true" + "granulocytic sarcoma" "A tumor mass composed of myeloblasts, neutrophils and neutrophil precursors. Granulocytic sarcoma is the most common type of myeloid sarcoma. (WHO, 2001)" "" + "myeloid sarcoma" "A tumor mass composed of myeloblasts or immature myeloid cells. It occurs in extramedullary sites or the bone. (WHO, 2001)" "" + "head and neck paraganglioma" "A benign or malignant extra-adrenal paraganglioma arising from paraganglia in the head and neck. Representative examples include the carotid body and jugulotympanic paragangliomas." "" + "obsolete hemangiopericytic neoplasm" "" "true" + "hepatic granuloma" "A granuloma located in the liver." "" + "obsolete hepatoblastoma" "" "true" + "HER2 positive breast carcinoma" "A biologic subset of breast carcinoma defined by high expression of HER2, GRB7, and TRAP100, and by lack of expression of estrogen receptor (ER)." "" + "high grade surface osteosarcoma" "A usually aggressive high grade malignant bone-forming mesenchymal neoplasm arising from the surface of the bone." "" + "hydatidiform mole" "A gestational trophoblastic disorder characterized by marked enlargement of the chorionic villi, hyperplasia of the villous trophoblastic cells and hydropic changes." "" + "gestational trophoblastic disease" "" + "ileal neuroendocrine tumor G1" "A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the ileum. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent." "" + "ileal neuroendocrine tumor, well differentiated, low or intermediate grade" "A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the ileum." "" + "inclusion body fibromatosis" "A rare benign neoplasm arising from the soft tissues of the digits, in young children. It is characterized by the presence of fibroblastic spindle cells, and intracytoplasmic eosinophilic spherical inclusions." "True" + "obsolete infiltrating bladder lymphoepithelioma-like carcinoma" "" "true" + "obsolete infiltrating bladder urothelial carcinoma sarcomatoid variant" "" "true" + "intimal sarcoma" "A malignant neoplasm arising from the large blood vessels. It is characterized by the presence of tumor cells that grow within the lumen of the blood vessels. The intraluminal tumor growth may result in vascular obstruction and spread of tumor emboli to peripheral organs. The prognosis is usually poor." "" + "jejunal neuroendocrine tumor G1" "A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the jejunum. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent." "" + "obsolete juvenile xanthogranuloma" "" "true" + "kidney medullary carcinoma" "A type of renal carcinoma affecting mostly young African-Americans. It is located in the medulla of the kidney, and follows an aggressive clinical course. Most reported cases have shown metastatic disease at the time of diagnosis." "" + "" "true" + "lacrimal gland adenoid cystic carcinoma" "A adenoid cystic carcinoma that involves the lacrimal gland." "" + "obsolete Langerhans cell histiocytosis" "" "true" + "laryngeal adenoid cystic carcinoma" "A rare adenoid cystic carcinoma of the larynx. It usually arises from the supraglottic or subglottic area. It is characterized by slow progression and late distant metastases." "" + "laryngeal small cell carcinoma" "A rare carcinoma that arises from the larynx. It is characterized by the presence of small neuroendocrine cells. It metastasizes early and has an aggressive clinical course." "" + "laryngeal neuroendocrine neoplasm" "A benign or malignant neoplasm with neuroendocrine differentiation that arises from the larynx. This category includes paraganglioma, carcinoid tumor, small cell carcinoma, and large cell neuroendocrine carcinoma." "" + "liver cavernous hemangioma" "A hemangioma with cavernous vascular spaces arising from the liver. It is the most frequent benign tumor of the liver and usually affects young females." "" + "liver diffuse large B-cell lymphoma" "A rare diffuse large B-cell lymphoma that arises from the liver and the bulk of the tumor is located in the liver." "" + "obsolete liver inflammatory myofibroblastic tumor" "" "true" + "lobular breast carcinoma in situ" "A non-invasive adenocarcinoma of the breast characterized by a proliferation of monomorphic cells completely filling the lumina. The overall lobular architecture is preserved. It is frequently multifocal (90% in some series) and bilateral. It seldom becomes invasive; however there is an increased risk of infiltrating ductal adenocarcinoma." "" + "low grade central osteosarcoma" "A low grade osteosarcoma arising from the medullary portion of the bone. It affects the long bones and is characterized by the presence of fibroblastic stroma and osteoid production. Pain and swelling are the usual sign and symptom. The prognosis is more favorable than conventional osteosarcoma." "" + "low grade fibromyxoid sarcoma" "A low grade, late-metastasizing variant of fibrosarcoma characterized by alternating fibrous and myxoid areas and a whorling growth pattern. The neoplastic cells have a spindle morphology, and lack hyperchromasia or significant nuclear atypia. Approximately 40% of cases show the focal presence of collagen rosettes. A t(7;16)(q33;p11) translocation has been identified in the majority of cases, associated with the presence of FUS-CREB3L2 fusion protein. Rare cases carry the t(11;16)(p11;p11) translocation which is associated with the presence of the FUS-CREB3L1 fusion protein." "" + "low grade fibromyxoid sarcoma with giant collagen rosettes" "A low grade fibromyxoid sarcoma characterized by the presence of prominent collagen rosettes." "" + "low grade vulvar intraepithelial neoplasia" "An intraepithelial lesion of the vulvar squamous epithelium that represents the clinical and morphological manifestation of a productive HPV infection. Low grade refers to the associated low risk of concurrent or future cancer. (WHO, 2014)" "" + "lung giant cell carcinoma" "A morphologic variant of lung sarcomatoid carcinoma characterized by the presence of mononuclear and multinucleated pleomorphic neoplastic giant cells that lack cohesion." "" + "lung inflammatory myofibroblastic tumor" "An intermediate fibroblastic neoplasm arising from the lung. It is characterized by the presence of spindle-shaped fibroblasts and myofibroblasts, and a chronic inflammatory infiltrate composed of eosinophils, lymphocytes and plasma cells." "" + "lung lymphangioleiomyomatosis" "Lymphangiomyomatosis involving the lungs and local lymph nodes. Patients usually present with chylous pleural effusion. The clinical course is variable. Patients with resectable lesions usually have a favorable clinical outcome. Patients with diffuse lesions usually have a progressive clinical course." "" + "lymphangioleiomyomatosis" "A multifocal neoplasm with perivascular epithelioid cell differentiation affecting almost exclusively females of child-bearing age. It is characterized by the presence of smooth muscle and epithelioid cells and by the proliferation of lymphatic vessels. Sites of involvement include the lungs, mediastinum, and the retroperitoneum. It usually presents with chylous pleural effusion or ascites." "" + "lung papilloma" "A benign papillary neoplasm that arises endobronchially. It is classified as squamous cell, glandular, or mixed squamous cell and glandular papilloma. Patients usually present with signs and symptoms of bronchial obstruction." "" + "lung sclerosing hemangioma" "A benign tumor that arises from the lung. It is characterized by the presence of sclerotic, papillary, solid, and hemorrhagic patterns and hyperplastic type II pneumocytes. Cholesterol clefts, hemosiderin deposition, chronic inflammation, and calcifications may be present. In the majority of cases, it is a solitary and peripheral tumor. Patients are usually asymptomatic." "" + "lung signet ring cell carcinoma" "A morphologic variant of lung adenocarcinoma characterized by the presence of signet ring cells." "" + "lymphangiosarcoma" "A malignant neoplasm arising from the endothelial cells of the lymphatic vessels." "" + "lymphoepithelioma-like lung carcinoma" "A morphologic variant of large cell lung carcinoma characterized by the presence of a syncytial growth pattern, large vesicular nuclei with esophnophilic nucleoi, and dense lymphoplasmacytic infiltration." "" + "major salivary gland carcinoma ex pleomorphic adenoma" "A carcinoma that arises from a pleomorphic adenoma in the major salivary glands. It usually originates in the parotid gland. Patients usually present with a history of a long-standing tumor mass which grew rapidly in the past few months. Patients with non-invasive or minimally invasive carcinoma have an excellent prognosis. In cases where there is invasion of the surrounding tissues, the clinical course is aggressive." "" + "salivary gland carcinoma ex pleomorphic adenoma" "A carcinoma that arises from a pleomorphic adenoma in the salivary glands. It usually originates in the parotid gland. Patients usually present with a history of a long-standing tumor mass which grew rapidly in the past few months. Patients with non-invasive or minimally invasive carcinoma have an excellent prognosis. In cases where there is invasion of the surrounding tissues, the clinical course is aggressive." "" + "major salivary gland mucoepidermoid carcinoma" "A carcinoma that arises from the major salivary glands. It usually arises from the parotid gland. It is the most common primary carcinoma of the salivary glands and usually presents as a firm and painless mass. It is characterized by the presence of epidermoid cells, mucus producing cells, and cells of intermediate type. The majority of cases have a favorable outcome." "" + "salivary gland mucoepidermoid carcinoma" "A carcinoma that arises from the salivary glands. It is the most common primary carcinoma of the salivary glands and usually presents as a firm and painless mass. It is characterized by the presence of epidermoid cells, mucus producing cells, and cells of intermediate type. The majority of cases have a favorable outcome." "" + "malignancy in giant cell tumor of bone" "A malignant tumor that arises from the bone. It is characterized by the presence of an area of high grade sarcoma in an otherwise typical giant cell tumor (primary malignancy in giant cell tumor), or the presence of sarcoma in which the pre-existing giant cell tumor may or may not be apparent (secondary malignancy in giant cell tumor)." "" + "malignant adrenal gland pheochromocytoma" "A pheochromocytoma that metastasizes to other anatomic sites. Common sites of metastasis include lymph nodes, bones, liver, and lung. Morphologic features associated with malignant pheochromocytomas include: atypical mitotic figures, capsular and vascular invasion, tumor cell necrosis, and high mitotic activity." "" + "obsolete malignant epitheloid mesothelioma" "" "true" + "malignant jugulotympanic paraganglioma" "A jugulotympanic paraganglioma that metastasizes to other anatomic sites." "" + "jugulotympanic paraganglioma" "A benign or malignant extra-adrenal parasympathetic paraganglioma arising from paraganglia in the base of the skull and middle ear." "" + "obsolete malignant mixed neoplasm" "" "true" + "obsolete mast cell sarcoma" "" "true" + "maxillary sinus adenoid cystic carcinoma" "An adenoid cystic carcinoma that arises from the maxillary sinus. It usually has an aggressive clinical course." "" + "obsolete mediastinal neuroblastoma" "" "true" + "medullomyoblastoma with myogenic differentiation" "A rare malignant embryonal neoplasm arising from the cerebellum. It is characterized by the morphologic features of a medulloblastoma and the presence of a striated muscle component. Its clinical behavior is similar to medulloblastoma." "" + "metanephric adenoma" "A benign, well-circumscribed renal cortical neoplasm affecting females more often than males. Polycythemia has been reported in twelve-percent of patients." "" + "micropapillary serous carcinoma" "An adenocarcinoma characterized by the presence of complex micropapillary structures covered by round and cuboidal cells with a high nuclear to cytoplasmic ratio." "" + "middle ear squamous cell carcinoma" "A rare squamous cell carcinoma that arises from the middle ear." "" + "minor salivary gland adenocarcinoma" "An adenocarcinoma that arises from the minor salivary glands." "" + "minor salivary gland carcinoma" "A carcinoma that arises from the minor salivary glands. Representative examples include adenoid cystic carcinoma, acinic cell carcinoma, polymorphous low grade adenocarcinoma, and mucinous adenocarcinoma." "" + "obsolete mixed cell uveal melanoma" "" "true" + "mixed somatotroph-lactotroph pituitary gland adenoma" "An infrequent pituitary gland adenoma composed of an admixture of acidophilic and chromophobic cells that produce growth hormone and prolactin respectively. Unlike mammosomatotroph adenomas, these two hormones are not localized in the same cell by immunohistochemistry." "" + "" "true" + "mucinous gastric adenocarcinoma" "A variant of gastric adenocarcinoma with more than half of the tumor containing extracellular mucinous pools." "" + "obsolete mucinuos carcinoma" "" "true" + "myofibroma" "A benign, localized, nodular and well-circumscribed neoplasm usually seen as a congenital neoplasm or in the first year of life. It is characterized by a biphasic growth pattern and is composed of small, undifferentiated mesenchymal cells associated with branching thin-walled vessels and more mature neoplastic spindle cells with abundant eosinophilic cytoplasm in a collagenous stroma." "" + "nabothian cyst" "A benign, mucus-filled cervical cyst that occurs when mucus-secreting columnar epithelial cells are covered with squamous epithelium." "" + "nasal cavity polyp" "A soft and painless polypoid mass that arises from the mucosa in the nasal cavity. It is usually the result of an inflammatory process. It may recur following surgical resection." "" + "obsolete neoplastic medium-sized B-lymphocyte with basophilic cytoplasm" "" "true" + "neurothekeoma" "A benign neoplasm arising from nerve sheaths. It is characterized by the presence of a myxoid stroma." "" + "obsolete nevus of Ito" "" "true" + "obsolete nevus of Ota" "" "true" + "non-functioning adrenal cortex adenoma" "An adenoma of the adrenal cortex characterized by the absence of a hormonal syndrome or symptoms suggestive of adrenal disease." "" + "non-seminomatous lesion" "A group of testicular cancers that begin in the germ cells (cells that give rise to sperm). Nonseminomas are identified by the type of cell in which they begin and include embryonal carcinoma, teratoma, choriocarcinoma, and yolk sac carcinoma." "" + "normal breast-like subtype of breast carcinoma" "A biologic subset of breast carcinoma defined by high expression of many genes expressed by adipose and other non-epithelial tissues." "" + "ocular melanoma with extraocular extension" "A melanoma arising from and extending beyond the structures of the eye." "" + "ocular sebaceous carcinoma" "Ocular sebaceous carcinoma is a rare condition and accounts for 1% to 5.5% of eyelid malignancies and is the third most common eyelid malignancy after basal cell and squamous cell carcinoma. It usually affects elderly women, has a high rate of local recurrence, and a tendency to regional and distant metastases." "" + "odontogenic cyst" "A cyst in the jaw that arises from tissues of tooth development." "" + "obsolete ovarian carcinosarcoma" "" "true" + "obsolete ovarian choriocarcinoma" "" "true" + "obsolete ovarian dysgerminoma" "" "true" + "obsolete ovarian embryonal carcinoma" "" "true" + "ovarian endometrioid adenocarcinoma" "An endometrioid adenocarcinoma arising from the ovary. It comprises 10% to 25% of all primary ovarian carcinomas. Grossly, endometrioid carcinoma may present as a cystic or solid mass. Microscopically, the tumor greatly resembles the appearance of the ordinary type of endometrial adenocarcinoma. As a group, endometrioid carcinoma has a prognosis twice as good as that of serous or mucinous carcinoma." "" + "ovarian endometrioid adenocarcinoma with squamous differentiation" "An endometrioid adenocarcinoma that arises from the ovary and exhibits squamous differentiation. The squamous cell component often has a cytologically benign appearance." "" + "ovarian endometriosis" "A non-neoplastic disorder characterized by the growth of endometrial tissue in the ovaries. It results in the development of blood filled ovarian cysts (chocolate cysts), and creation of scars and adhesions." "" + "obsolete ovarian germ cell tumor" "" "true" + "ovarian microcystic stromal tumor" "A benign, unilateral tumor that arises from the ovary and is characterized by the presence of conspicuous microcystic changes, cellular areas, and a fibrous stroma." "" + "benign ovarian sex cord-stromal tumor" "A sex cord-stromal tumor arising from the ovary, without metastatic potential." "" + "obsolete ovarian small cell carcinoma" "" "true" + "obsolete ovarian squamous cell carcinoma" "" "true" + "ovarian transitional cell carcinoma" "A carcinoma that arises from the ovary and is characterized by the presence of malignant epithelial cells that resemble malignant urothelial cells. There is no morphologic evidence of a benign or borderline Brenner tumor component present." "" + "palmar fibromatosis" "A superficial fibromatosis arising from the soft tissue of the palm. It is characterized by the presence of spindle-shaped fibroblasts, and an infiltrative growth pattern. It predominantly affects adult males." "" + "pancreatic large cell neuroendocrine carcinoma" "An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the pancreas. It is characterized by the presence of malignant large cells." "" + "pancreatic small cell neuroendocrine carcinoma" "An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the pancreas. It is characterized by the presence of malignant small cells." "" + "non-papillary transitional cell carcinoma of the bladder" "" + "parathyroid hyperplasia" "A hyperplasia that involves the parathyroid gland." "" + "parotid gland acinic cell carcinoma" "An adenocarcinoma with serous acinar cell differentiation that arises from the parotid gland. Patients usually present with a slow growing mass in the parotid area." "" + "carcinoma of parotid gland" "A carcinoma that involves the parotid gland." "" + "parotid gland adenoid cystic carcinoma" "An aggressive carcinoma that arises from the parotid gland. It is characterized by the presence of malignant epithelial and myoepithelial cells forming cribriform, tubular, and solid patterns. It usually presents as a slow growing mass. Patients develop pain because of the tendency of these carcinomas to invade perineural tissues." "" + "parotid gland carcinoma ex pleomorphic adenoma" "A carcinoma that arises from a pleomorphic adenoma in the parotid gland. Patients usually present with a history of a long-standing tumor mass which grew rapidly in the past few months. Patients with non-invasive or minimally invasive carcinoma have an excellent prognosis. In cases where there is invasion of the surrounding tissues, the clinical course is aggressive." "" + "parotid gland squamous cell carcinoma" "An invasive squamous cell carcinoma that arises from the parotid gland. It usually affects elderly patients and presents as a rapidly enlarging tumor mass, often associated with pain." "" + "salivary gland squamous cell carcinoma" "A squamous cell carcinoma arising from the salivary glands. The majority of patients are in their sixth through eight decades. It usually presents as a rapidly enlarging mass, which may be painful. It usually has an aggressive clinical course." "" + "penile carcinoma" "A carcinoma that arises from epithelial cells of the penis" "" + "penile fibromatosis" "Fibromatosis arising from the soft tissues of the penis. It is characterized by the presence of spindle-shaped fibroblasts, and an infiltrative growth pattern. It causes the penis to bend when it becomes erect." "" + "peritoneal multicystic mesothelioma" "A cystic mesothelioma that arises from the peritoneum and usually affects young to middle aged females. Grossly, it presents as a large multiloculated tumor mass, usually in the pelvic peritoneum. Histologically it is characterized by the presence of multiple cysts that are lined by one or more layers of mesothelial cells that do not show atypia. Patients usually present with abdominal or pelvic mass and pain. The clinical course is indolent. The tumor may recur, but transformation to diffuse malignant mesothelioma is rare." "" + "primary malignant peritoneal tumor" "" + "peritoneal well differentiated papillary mesothelioma" "A localized or multifocal mesothelioma arising from the peritoneum. It predominantly occurs in women. It is characterized by the formation of papillae, covered by a single layer of blunt mesothelial cells. Mitotic figures are not present. There is no evidence of severe cytologic atypia. It has a relatively favorable clinical outcome, compared to diffuse malignant mesothelioma." "" + "Peutz-Jeghers polyp" "A hamartomatous polyp that occurs in the stomach, small and large intestines, and rarely within the esophagus, nasopharynx and the urinary tract. The Peutz-Jeghers polyps are grossly lobulated and dark. Microscopically, they have a central core of smooth muscle covered by mucosa. The smooth muscle shows tree-like branching. The question of whether or not the Peutz-Jeghers polyp is precancerous is a matter of controversy. The loss of heterozygosity on chromosome 19p (where the responsible gene LKB1 is located) suggests that the increased risk of malignancy may be due to malignant transformation from hamartoma to adenocarcinoma. --2002" "" + "Peutz-Jeghers polyp of the stomach" "A non-neoplastic polyp that arises from the stomach and is characterized by the presence of smooth muscle branching bands, and hyperplasia with cystic dilatation of the foveolar epithelium." "" + "Peutz-Jeghers syndrome" "Peutz-Jeghers syndrome (PJS) is an inherited gastrointestinal disorder characterized by development of characteristic hamartomatous polyps throughout the gastrointestinal (GI) tract, and by mucocutaneous pigmentation. PJS carries a considerably increased risk of GI and extra-GI malignancies." "" + "pharyngeal adenoid cystic carcinoma" "An adenoid cystic carcinoma that arises from the pharynx." "" + "phosphaturic mesenchymal tumor" "An extremely rare, benign or malignant mesenchymal tumor arising from the soft tissues or bones. It is a distinctive tumor, which usually displays the following morphologic characteristics: low cellularity, myxoid changes, presence of spindled cells and osteoclasts, hemangiopericytoma-like vessels, hemorrhage, and osteoid-like matrix. It is associated with the presence of a paraneoplastic syndrome called osteogenic osteomalacia. This syndrome usually precedes the appearance of the tumor, and it is characterized by phosphaturia, hypophosphatemia, normal serum calcium levels, and decreased levels of 1,25-dihydroxyvitamin D3. Patients present with bone and muscle pain, severe muscle weakness, fractures, gait disturbances, skeletal deformity, height loss, and slow growth. The metabolic disturbances improve or completely disappear after the complete resection of the tumor." "" + "pineal parenchymal tumor of intermediate differentiation" "A WHO grade II or III pineal parenchymal neoplasm of intermediate-grade malignancy, affecting all ages. It is composed of diffuse sheets or large lobules of uniform cells with mild to moderate nuclear atypia and low to moderate level mitotic activity. (Adapted from WHO)" "" + "obsolete pineoblastoma" "" "true" + "obsolete pineocytoma" "" "true" + "pituicytoma" "An extremely rare, WHO grade I, circumscribed and slow-growing tumor that arises from the neurohypophysis or infundibulum and described in adults. It is characterized by the presence of elongated, spindle-shaped neoplastic glial cells that form storiform patterns or interlacing fascicular arrangements. Signs and symptoms include visual disturbances, headache, amenorrhea, and decreased libido." "" + "low-grade astrocytoma" "" + "placental choriocarcinoma" "Choriocarcinoma that develops in the placenta. It is the rarest form of gestational choriocarcinoma. Metastases to the mother and infant may occur." "" + "placental hemangioma" "A hemangioma arising from the fetal blood vessels in the placental villi." "" + "benign neoplasm of placenta" "A benign neoplasm that involves the placenta." "" + "obsolete plantar fibromatosis" "A superficial fibromatosis arising from soft tissue of the plantar regions. It is characterized by the presence of spindle-shaped fibroblasts, hypercellularity, and an infiltrative growth pattern." "" "true" + "pleural biphasic mesothelioma" "Malignant mesothelioma that arises from the pleura. It is characterized by the presence of epithelioid and sarcomatoid components, with each component representing at least 10% of the tumor." "" + "pleural epithelioid mesothelioma" "Malignant mesothelioma that arises from the pleura and is characterized by the presence of cells with epithelioid morphology. The epithelioid cells usually have eosinophilic cytoplasm, bland nuclei, and form tubulopapillary, microglandular, or sheet-like patterns." "" + "obsolete pleural mesothelioma" "" "true" + "pleural sarcomatoid mesothelioma" "Malignant mesothelioma that arises from the pleura and is characterized by the presence of spindle-shaped cells forming fascicles, or that are distributed haphazardly resembling a sarcoma." "" + "plexiform ameloblastoma" "A histologic variant of solid/multicystic ameloblastoma characterized by the presence of basal cells forming anastomosing strands and cords in a delicate stroma." "" + "poorly differentiated thyroid gland carcinoma" "An adenocarcinoma arising from the thyroid gland showing only limited evidence of follicular cell differentiation. Microscopically, the adenocarcinoma cells are arranged in insular, solid, and trabecular patterns. There is associated necrosis, and vascular invasion. The prognosis depends on the tumor stage, complete or partial surgical removal of the tumor, and the degree of response to radioactive iodine therapy (adapted from WHO Tumors of Endocrine Organs, IARC Press, Lyon 2004)" "" + "primary cutaneous diffuse large B-cell lymphoma, Leg type" "An aggressive primary cutaneous B-cell lymphoma, usually involving the lower leg. It is composed of a generally monotonous proliferation of immunoblasts, or less frequently centroblasts, with few admixed reactive cells. This type of lymphoma occurs most often in elderly women who present with rapidly growing tumors, usually on one or both legs. Dissemination to extracutaneous sites is frequent. Treatment with combination chemotherapy is usually required." "" + "aggressive primary cutaneous B-cell lymphoma" "" + "obsolete primary effusion lymphoma" "" "true" + "primary intraosseous squamous cell carcinoma" "A squamous cell carcinoma that arises centrally from the jaw. It derives from odontogenic epithelial remnants. It includes solid type squamous cell carcinoma, squamous cell carcinoma that arises from an odontogenic cyst, and squamous cell carcinoma that derives from a keratocystic odontogenic tumor." "" + "primary peritoneal serous adenocarcinoma" "A rare, serous adenocarcinoma that diffusely involves the pelvic peritoneum seen predominantly in elderly postmenopausal women. Exclusion of serous carcinoma arising from the ovary and fimbrial end of fallopian tube is required to diagnose the above entity." "" + "primary peritoneal carcinoma" "Primary peritoneal carcinoma (PPC) is a rare malignant tumor of the peritoneal cavity of extra-ovarian origin, clinically and histologically similar to advanced-stage serous ovarian carcinoma." "" + "primary pulmonary diffuse large B-cell lymphoma" "A diffuse large B-cell lymphoma that is localized to the lungs at the time of presentation. Signs and symptoms include cough, dyspnea, and hemoptysis." "" + "lung non-Hodgkin lymphoma" "A rare non-Hodgkin lymphoma that arises in and is confined to the lung at the time of diagnosis. Representative examples include bronchial mucosa-associated lymphoid tissue lymphoma and diffuse large B-cell lymphoma." "" + "prolactin-producing pituitary gland carcinoma" "A rare, hormonally functioning or non-functioning pituitary gland adenocarcinoma that produces prolactin." "" + "prostate small cell carcinoma" "A neuroendocrine carcinoma of the prostate gland with unfavorable prognosis, composed of small cells containing neurosecretory granules. Approximately half of the cases show a mixture of small cells and adenocarcinoma cells." "" + "pyloric gland adenoma" "A rare neoplastic polyp that arises from the stomach. It is characterized by the presence of gastric epithelial differentiation and pyloric gland-type tubular structures, which are closely packed." "" + "rectal hyperplastic polyp" "A serrated polypoid lesion that arises in the rectum. It rarely produces symptoms. This group includes goblet cell rich, mucin poor, and microvesicular hyperplastic polyps." "" + "polyp of rectum" "A polyp that involves the rectum." "" + "rectal traditional serrated adenoma" "An adenoma that arises from the rectum. It is characterized by prominent serration of the glands and the presence of generalized low-grade dysplasia." "" + "rectal tubular adenoma" "A usually polypoid neoplasm that arises from the glandular epithelium of the rectal mucosa. It is characterized by a tubular architectural pattern. The neoplastic glandular cells have dysplastic features." "" + "rectal tubulovillous adenoma" "A neoplasm that arises from the glandular epithelium of the rectal mucosa. It is characterized by tubular and villous architectural patterns. The neoplastic glandular cells have dysplastic features." "" + "colorectal tubulovillous adenoma" "A neoplasm that arises from the glandular epithelium of the colonic and rectal mucosa. It is characterized by tubular and villous architectural patterns. The neoplastic glandular cells have dysplastic features." "" + "rectal villous adenoma" "A neoplasm that arises from the glandular epithelium of the rectal mucosa. It is characterized by a villous architectural pattern. The neoplastic glandular cells have dysplastic features." "" + "renal cell carcinoma associated with Xp11.2 translocations/TFE3 gene fusions" "A group of kidney carcinomas characterized by the presence of different translocations involving the chromosome Xp11.2. These translocations result in the creation of gene fusions involving the TFE3 gene. Patients are usually children and young adults. Morphologically, the malignant epithelial cells form papillary patterns." "" + "retroperitoneal inflammatory myofibroblastic tumor" "A multinodular intermediate fibroblastic neoplasm arising from the retroperitoneum. It is characterized by the presence of spindle-shaped fibroblasts and myofibroblasts, and a chronic inflammatory infiltrate composed of eosinophils, lymphocytes and plasma cells." "" + "obsolete rhabdoid tumor of the kidney" "" "true" + "salivary gland acinic cell carcinoma" "A carcinoma of the salivary gland characterized by serous acinar cell differentiation. The vast majority of cases occur in the parotid gland. It usually presents as a slowly enlarging mass. A minority of patients experience pain. It may recur or metastasize. Multiple recurrences and metastasis to cervical lymph nodes are usually associated with a poor prognosis." "" + "salivary gland adenosquamous carcinoma" "A rare, aggressive carcinoma that arises from the salivary glands. It is characterized by the presence of a squamous and a glandular epithelial component." "" + "salivary gland basal cell adenocarcinoma" "A rare adenocarcinoma of the major and minor salivary glands, originating from basaloid, myoepithelial and ductal cells. While morphologically resembling basal cell carcinomas, it is a distinct entity. The tumor is not encapsulated, may invade locally, and less frequently may metastasize. It usually occurs in older patients." "" + "salivary gland large cell carcinoma" "A rare, highly aggressive carcinoma that arises from the salivary gland, predominantly the parotid gland. It is characterized by the presence of large pleomorphic malignant cells with abundant cytoplasm. Patients usually present with a rapidly growing mass." "" + "salivary gland small cell carcinoma" "An infrequent small cell carcinoma that arises from the salivary glands and is characterized by the presence of a high number of mitotic figures." "" + "sex hormone-producing adrenal cortex adenoma" "A rare adenoma of the adrenal cortex that produces androgens or estrogens." "" + "signet ring cell gastric adenocarcinoma" "A poorly cohesive gastric adenocarcinoma characterized by malignant cells containing intracytoplasmic mucin." "" + "simple endometrial hyperplasia" "A proliferation of endometrial cells resulting in glandular enlargement and budding without changes in the basic structure of the endometrium. Epithelial atypia may be present or absent." "" + "sinonasal undifferentiated carcinoma" "A rare, highly aggressive carcinoma that arises from the sinonasal tract. It is characterized by the presence of small to medium size malignant cells. The prognosis is poor." "" + "sinus histiocytosis with massive lymphadenopathy" "A rare disorder of unknown etiology characterized by distention of the lymph node sinuses and sinusoidal histiocytic infiltration. The histiocytes characteristically contain ingested lymphocytes. Patients present with cervical lymphadenopathy, fever, leukocytosis, and hypergammaglobulinemia. It can affect extranodal sites, including skin, bones, and the respiratory tract. It usually regresses spontaneously." "" + "" "true" + "obsolete small intestinal adenocarcinoma" "" "true" + "small intestinal Burkitt lymphoma" "A Burkitt lymphoma that arises from the small intestine." "" + "small intestinal diffuse large B-cell lymphoma" "A diffuse large B-cell lymphoma that arises from the small intestine." "" + "small intestinal enteropathy-associated T-cell lymphoma" "An enteropathy-associated T-cell lymphoma arising from the small intestine, most commonly the jejunum or ileum. Patients usually present with abdominal pain, often associated with intestinal perforation. There is often a history of celiac disease. The lymphoma cells are usually medium-sized to large and form an ulcerating mucosal lesion with invasion of the small intestinal wall. Villous atrophy is present in the adjacent small intestinal mucosa. In a minority of cases the lymphoma cells are medium-sized and form a monomorphic infiltrate." "" + "enteropathy-associated T-cell lymphoma" "An uncommon mature T-cell lymphoma of intraepithelial lymphocytes. It usually arises from the small intestine, most commonly the jejunum or ileum. Other less frequent primary anatomic sites include the duodenum, stomach, colon, or outside the gastrointestinal tract. It is seen with increased frequency in regions with a high prevalence of celiac disease." "" + "small intestinal intraepithelial neoplasia" "A precancerous neoplastic process that affects the small intestine. It is characterized by low or high grade dysplasia of the mucosal epithelium. There is no evidence of invasion." "" + "small intestinal mucosa-associated lymphoid tissue lymphoma" "A mucosa-associated lymphoid tissue lymphoma (MALT) that arises from the small intestine. The morphologic characteristics are similar to those seen in gastric MALT lymphomas, with the exception of the lymphoepithelial lesions that are less prominent in the small intestine." "" + "small intestinal tubular adenoma" "A usually polypoid neoplasm that arises from the glandular epithelium of the small intestine. It is characterized by a tubular architectural pattern. The neoplastic glandular cells have dysplastic features." "" + "small intestinal tubulovillous adenoma" "A neoplasm that arises from the glandular epithelium of the small intestine. It is characterized by tubular and villous architectural patterns. The neoplastic glandular cells have dysplastic features." "" + "obsolete spinal chordoma" "" "true" + "spinal cord primitive neuroectodermal tumor" "A central nervous system embryonal tumor, not otherwise specified arising from the spinal cord." "" + "splenic diffuse large B-cell lymphoma" "A diffuse large B-cell lymphoma occurring in the spleen." "" + "splenic hodgkin lymphoma" "A rare Hodgkin lymphoma that arises from the spleen." "" + "splenic mantle cell lymphoma" "A mantle cell lymphoma occurring in the spleen." "" + "obsolete splenic marginal zone lymphoma" "" "true" + "stromal predominant kidney Wilms tumor" "Wilms tumor of the kidney characterized by the predominance of the mesenchymal component." "" + "obsolete subcutaneous panniculitis-like T-cell lymphoma" "" "true" + "obsolete Subependymoma" "" "true" + "submandibular gland adenocarcinoma" "An adenocarcinoma that arises from the submandibular gland. Representative examples include polymorphic low-grade adenocarcinoma and acinic cell carcinoma." "" + "submandibular gland adenoid cystic carcinoma" "An aggressive carcinoma that arises from the submandibular gland. It is characterized by the presence of malignant epithelial and myoepithelial cells forming cribriform, tubular, and solid patterns. It usually presents as a slow growing mass. Patients develop pain because of the tendency of these carcinomas to invade perineural tissues." "" + "obsolete superficial fibromatosis" "" "true" + "synovial chondromatosis" "Synovial chondromatosis is a type of non-cancerous tumor that arises in the lining of a joint. The knee is most commonly affected, however it can affect any joint. The tumors begin as small nodules of cartilage. These nodules can separate and become loose within the joint. Some tumors may be no larger than a grain of rice. Synovial chondromatosis most commonly occurs in adults ages 20 to 50. Signs and symptoms may include pain, swelling, a decreased range of motion, and locking of the joint. The exact underlying cause of the condition is unknown. Treatment may involve surgery to remove the tumor. Recurrence of the condition is common." "" + "obsolete syringocystadenoma papilliferum" "" "true" + "obsolete systemic mastocytosis with associated clonal hematological non-mast-cell lineage disease" "" "true" + "obsolete T-cell prolymphocytic leukemia" "" "true" + "tendon sheath fibroma" "A small, slow growing, benign neoplasm arising from the tendon sheaths. The tumor is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation." "" + "obsolete tenosynovial giant cell tumor" "" "true" + "obsolete testicular choriocarcinoma" "A malignant germ cell tumor arising from the testis. It represents the rarest of the testicular germ cell tumors. Histologically it is characterized by the presence of syncytiotrophoblasts and cytotrophoblasts." "" "true" + "obsolete testicular teratoma (disease)" "" "true" + "obsolete testicular yolk sac tumor" "" "true" + "therapy-related myeloid neoplasm" "Acute myeloid leukemias, myelodysplastic syndromes, and myelodysplastic/myeloproliferative neoplasms arising as a result of the mutagenic effect of chemotherapy agents and/or radiation that are used for the treatment of neoplastic or non-neoplastic disorders." "" + "thymic epithelial neoplasm" "An epithelial neoplasm that affects the thymus gland. This category includes thymomas and carcinomas." "" + "thymic sarcomatoid carcinoma" "A rare, usually aggressive, primary thymic carcinoma, characterized by the presence of tumor cells morphologically resembling soft tissue sarcoma." "" + "obsolete thymic small cell carcinoma" "An aggressive, small cell, poorly differentiated thymic neuroendocrine carcinoma, characterized by the presence of a high mitotic rate and numerous apoptotic bodies." "" "true" + "obsolete thymic squamous cell carcinoma" "A rare primary thymic carcinoma, characterized by the presence of keratinizing or non-keratinizing malignant squamous cells. Approximately 10-20% of cases occur in combination with thymoma. The prognosis depends on the tumor stage and the degree of cellular differentiation." "" "true" + "thymic undifferentiated carcinoma" "A rare primary thymic carcinoma, characterized by an undifferentiated solid tumor growth, without associated sarcomatoid features." "" + "obsolete thymoma type AB" "" "true" + "thymoma type B3" "Also known as well-differentiated thymic carcinoma, atypical thymoma, or epithelial thymoma, this type of thymoma displays morphologic characteristics of a well-differentiated carcinoma. The majority of cases occur in the anterior mediastinum as Masaoka stage II or stage III tumors. It is almost always invasive, it recurs frequently, and metastasizes in approximately 20% of the cases." "" + "thyroglossal duct cyst" "A congenital benign cyst arising from the remnants of the thyroglossal duct. It is usually located in the midline of the neck." "" + "obsolete thyroid gland carcinoma" "" "true" + "thyroid gland diffuse large B-cell lymphoma" "A diffuse large B-cell lymphoma primarily involving the thyroid gland." "" + "thyroid lymphoma" "A lymphoma primarily involving the thyroid gland." "" + "thyroid gland mucoepidermoid carcinoma" "A primary, low grade carcinoma of the thyroid gland composed of groups of squamoid and mucous cells, surrounded by fibrous tissue. Prominent cystic structures may be present. The clinical course is usually indolent." "" + "thyroid gland mucosa-associated lymphoid tissue lymphoma" "An extranodal marginal zone B-cell lymphoma arising from mucosa-associated lymphoid tissue in the thyroid gland. The vast majority of cases are associated with chronic lymphocytic thyroiditis." "" + "thyroid gland oncocytic follicular carcinoma" "A follicular carcinoma of the thyroid gland, characterized by the presence of large cells with eosinophilic granular cytoplasm and pleomorphic nuclei with prominent, eosinophilic nucleoli. The nuclear features that characterize the papillary carcinomas of the thyroid gland are absent." "" + "thyroid gland spindle cell tumor with thymus-like differentiation" "A rare, slow growing, primary carcinoma of the thyroid gland characterized by a lobulated architectural pattern and the presence of a biphasic cellular population composed of spindle epithelial cells and glandular cells. A small number of cases are composed exclusively of spindle epithelial cells or glandular cells." "" + "thyroid gland carcinoma" "A carcinoma arising from the thyroid gland. It is usually an adenocarcinoma and includes the following main subtypes: follicular, papillary, medullary, poorly differentiated, and anaplastic." "" + "thyroid gland squamous cell carcinoma" "A rapidly growing primary carcinoma of the thyroid gland composed of malignant squamous cells. The clinical course is usually aggressive." "" + "thyroid gland undifferentiated (anaplastic) carcinoma" "A primary carcinoma of the thyroid gland composed of undifferentiated cells. The malignant cells demonstrate evidence of epithelial differentiation, either by immunohistochemistry or electron microscopic studies. Microscopically, in the majority of cases there is a mixture of spindle, epithelioid, and giant cells. The vast majority of the patients present with a rapidly enlarging neck mass. The clinical course is usually aggressive." "" + "tibial adamantinoma" "An adamantinoma arising from the tibia. The tibia is the site which is more frequently involved by adamantinoma (80-90% of cases)." "" + "tonsillar squamous cell carcinoma" "A squamous cell carcinoma that arises from the mucosal lining of the tonsil and tends to metastasize early to the lymph nodes. It predominantly affects middle aged and elderly patients who have a history of alcohol and tobacco use. Patients may present with tonsillar swelling, sore throat, pain radiating to the ipsilateral ear, or a neck mass." "" + "tracheal adenoid cystic carcinoma" "An adenoid cystic carcinoma that arises from the trachea. It spreads to the submucosal tracheal tissue and to regional lymph nodes." "" + "obsolete tracheal carcinoma" "" "true" + "obsolete tracheal squamous cell carcinoma" "" "true" + "obsolete unclassified renal cell carcinoma" "A renal cell carcinoma characterized by morphologic features that do not fit easily into one of the other well-defined categories of renal cell carcinoma. Examples of such features include mixtures of morphologic patterns, mucin production, and sarcomatoid morphology." "" "true" + "undifferentiated gallbladder carcinoma" "A carcinoma without evidence of differentiation arising from the gallbladder. The most common variant is the spindle and giant cell type which resembles a sarcoma." "" + "undifferentiated ovarian carcinoma" "An aggressive carcinoma arising from the ovary. Most patients present with advanced disease. Microscopically, it is characterized by significant cytologic atypia, increased mitotic activity, and necrosis. The prognosis is usually poor." "" + "undifferentiated pancreatic carcinoma" "A carcinoma with poor prognosis that arises from the pancreas. It is characterized by the presence of a significant malignant component that does not show differentiation. The malignant cells represent a mixture of large, pleomorphic cells and giant cells, or adenocarcinoma cells and spindle cells, or spindle cells." "" + "undifferentiated pancreatic carcinoma with osteoclast-like giant cells" "A rare variant of undifferentiated pancreatic carcinoma characterized by the presence of non-neoplastic osteoclast-like giant cells." "" + "undifferentiated pleomorphic sarcoma, inflammatory variant" "An undifferentiated pleomorphic sarcoma characterized by the presence of numerous inflammatory cells." "" + "ureter small cell carcinoma" "A rare carcinoma that arises from the ureter. It is characterized by the presence of small neuroendocrine cells. The prognosis is poor." "" + "urothelial dysplasia" "A morphologic finding indicating the presence of dysplastic changes in the transitional cell epithelium of the urinary tract." "" + "usual ductal breast hyperplasia" "A neoplastic ductal proliferative lesion of the breast characterized by the formation of secondary lumens and prominent intraductal proliferation of a heterogeneous cellular population that may include epithelial cells, myoepithelial cells, or metaplastic apocrine cells." "" + "vaginal adenoid cystic carcinoma" "An adenoid cystic carcinoma that arises from the vagina. Myoepithelial cells are usually not present." "" + "vaginal adenocarcinoma" "An adenocarcinoma arising from the vagina. Morphologic variants include the clear cell, endometrioid, mesonephric, and mucinous adenocarcinoma." "" + "malignant vaginal mixed epithelial and mesenchymal neoplasm" "A malignant neoplasm that arises from the vagina and is characterized by the presence of an epithelial and a mesenchymal component. This category includes adenosarcoma, carcinosarcoma, and malignant mixed tumor resembling synovial sarcoma." "" + "vaginal carcinoma" "A carcinoma arising from the vaginal epithelium. The majority of vaginal carcinomas are squamous cell carcinomas." "" + "vaginal melanoma" "A primary malignant neoplasm of the vagina composed of malignant melanocytes." "" + "vaginal squamous cell carcinoma" "A squamous cell carcinoma arising from the vagina. Human papillomavirus infection is associated with the development of vaginal intraepithelial neoplasia and invasive squamous cell carcinoma. Signs and symptoms include painless bleeding, postcoital bleeding, and urinary tract symptoms. Morphologically it resembles squamous cell carcinomas in other anatomic sites. Radiation therapy is the preferred treatment for most cases. The prognosis is related to the stage of the disease." "" + "vulvar lichen sclerosus" "A chronic inflammatory disorder of unknown etiology that affects the vulva. It is characterized by the development of white elevated plaques in the vulva. Histologically there is marked subepithelial fibrosis. Clinical manifestations include pruritus, dysuria, and dyspareunia." "" + "lichen sclerosus et atrophicus" "A chronic inflammatory process affecting the skin. It is characterized by the presence of white, indurated plaques, epidermal atrophy, and fibrosis of the upper dermis. It usually appears in the vulva and penis." "" + "obsolete vulvar squamous cell carcinoma" "" "true" + "Warthin tumor" "An adenoma characterized by an oncocytic, often papillary, epithelial component, dense lymphoid stroma, and cystic spaces. It occurs primarily in the parotid gland, and is the second most common benign parotid salivary gland tumor. A strong association with smoking has been reported. It typically presents as a painless swelling in the lower portion of the parotid gland." "" + "benign neoplasm of salivary gland" "A benign neoplasm that involves the saliva-secreting gland." "" + "obsolete thyroid disease" "" "true" + "obsolete marginal zone B-cell lymphoma" "" "true" + "adenomatous colon polyp" "A polypoid adenoma that arises from and protrudes into the lumen of the colon. Epithelial dysplasia is always present. According to the architectural pattern it is classified as tubular, tubulovillous, or villous." "" + "vascular anomaly" "" + "obsolete inflammatory skin disease" "" "true" + "acute respiratory distress syndrome" "Progressive and life-threatening pulmonary distress in the absence of an underlying pulmonary condition, usually following major trauma or surgery. Cases of neonatal respiratory distress syndrome are not included in this definition." "" + "obsolete episodic ataxia" "" "true" + "basal ganglia cerebrovascular disease" "A pathological condition caused by impaired blood flow in the basal regions of cerebral hemispheres (basal ganglia), such as infarction; hemorrhage; or ischemia in vessels of this brain region including the lateral lenticulostriate arteries. Primary clinical manifestations include involuntary movements (dyskinesias) and muscle weakness (hemiparesis)." "" + "hereditary hemochromatosis" "An inherited metabolic disorder characterized by iron accumulation in the tissues." "" + "disorder of iron metabolism and transport" "" + "obsolete infantile epileptic encephalopathy" "" "true" + "obsolete developmental dysplasia of the hip" "" "true" + "estrogen-receptor positive breast cancer" "A subtype of breast cancer that is estrogen-receptor positive" "" + "recalcitrant atopic dermatitis" "Moderate to severe atopic dermatitis with allergic sensitisation." "" + "acute pancreatitis" "An acute inflammatory process that leads to necrosis of the pancreatic parenchyma. Signs and symptoms include severe abdominal pain, nausea, vomiting, diarrhea, fever, and shock. Causes include alcohol consumption, presence of gallstones, trauma, and drugs." "" + "sarcopenia" "Progressive decline in muscle mass due to aging which results in decreased functional capacity of muscles." "" + "sporadic Creutzfeld Jacob disease" "Sporadic Creutzfeldt-Jakob disease (sCJD) is the most common type of CJD, accounting for around 85% of cases. The precise cause of sporadic CJD is unclear, but it's been suggested that a normal brain protein changes abnormally ('misfolds') and turns into a prion. Most cases of sporadic CJD occur in adults aged between 45 and 75. On average, symptoms develop at age 60-65 years." "" + "Achenbach syndrome" "A rare disorder which affects the volar surfaces of fingers. Clinical signs include recurrent, spontaneous or post-traumatic bruising of fingers. The clinical course of the resultant hematoma usually follows a pattern of resolution within days." "" + "acneiform dermatitis" "Cutaneous eruptions resembling acne, characterized by the presence of papulonodules, pustules, comedones, or cysts in the face, trunk, and extremities. Causes include infections and the use of certain medications (e.g., antibiotics and steroids)." "" + "acquired keratosis" "Focal or diffuse thickening of the skin not inherited as a primary genetic disorder. Causes include inflammatory skin disorders, infectious disorders, lymphedema, and medications." "" + "acrodermatitis" "An inflammatory skin condition affecting children. It is often associated with Epstein-Barr virus infection, hepatitis B infection or cytomegalovirus infection. It is characterized by the presence of cutaneous rashes and patches on the palms and soles. The trunk is not affected." "" + "acrodermatitis chronica atrophicans" "An acrodermatitis characterized by a chronically progressive course, leading to widespread atrophy of the skin. It is a clinical manifestation of Lyme borreliosis." "" + "allergic urticaria" "A urticaria with a basis in a pathological type I hypersensitivity reaction." "" + "anhidrosis" "Lack of sweating or the ability to sweat when provoked by the appropriate stimulus." "" + "bacterial exanthem" "A bacteria-induced exanthem" "" + "obsolete bullous skin disease" "" "true" + "cholesteatoma" "A pathologic process characterized by the proliferation of keratinizing squamous epithelium resulting in the accumulation of keratin and cells in the middle ear and/or mastoid. It may be congenital or acquired. If left untreated, it may increase in size and destroy adjacent structures." "" + "cholesteatoma of attic" "A cholesteatoma in the attic" "" + "cholesteatoma of middle ear" "A non-neoplastic lesion characterized by the proliferation of keratinizing squamous epithelium in the middle ear that results in the accumulation of keratin and cells. It is usually caused by repeated infections. If left untreated, it may increase in size and destroy the adjacent delicate bones of the middle ear." "" + "cholesteatoma of external ear" "A cholesteatoma (disease) that involves the external ear." "" + "cholinergic urticaria" "A type of physical urticarias (or hives) that appears when a person is sweating." "" + "physical urticaria" "A distinct subgroup of the urticaria that are induced by an exogenous physical stimulus rather than occurring spontaneously." "" + "obsolete cicatricial pemphigoid" "" "true" + "congenital generalized lipodystrophy" "An extremely rare autosomal recessive condition, characterized by an extreme scarcity of fat in the subcutaneous tissues." "" + "generalized lipodystrophy" "Almost complete absence of subcutaneous and/or visceral adipose tissue." "" + "genetic lipodystrophy" "Genetic lipodystrophy." "" + "conjunctival pigmentation" "Pigmented lesions that arise from the conjunctiva include nevus, complexion-associated melanosis (CAM), primary acquired melanosis (PAM), and malignant melanoma.1,2All of these lesions arise from melanocytes. However, a number of other lesions have a similar appearance but a different source, such as pigment deposits from silver and iron." "" + "obsolete dermatitis herpetiformis" "" "true" + "diffuse lipomatosis" "A neoplastic process characterized by a diffuse poorly circumscribed overgrowth of adipose tissue. It has been associated with several genetic disorders and different clinical conditions such as liver disease, excessive alcohol intake, adrenocortical steroid therapy, and antiretroviral therapy." "" + "lipomatosis" "A neoplastic process characterized by diffuse overgrowth of mature adipose tissue." "" + "dyshidrosis" "A recurrent eczematous reaction characterized by the development of vesicular eruptions on the palms and soles, particularly along the sides and between the digits. It is accompanied by pruritus, a burning sensation, and hyperhidrosis. The disease is self-limiting, lasting only a few weeks. (Dorland, 27th ed)" "" + "epidermolysis bullosa" "Epidermolysis bullosa (EB) is a group of genetic skin diseases that cause the skin to blister very easily. Blisters form in response to minor injuries or friction, such as rubbing or scratching. There are four main types of epidermolysis bullosa: dystrophic epidermolysis bullosa Epidermolysis bullosa simplex Junctional epidermolysis bullosa Kindler Syndrome Identifying the exact type can be hard because there are many subtypes of EB. Within each type or subtype, a person may be mildly or severely affected. The disease can range from being a minor inconvenience to completely disabling, and fatal in some cases. Most types of EB are inherited. The inheritance pattern may be autosomal dominant or autosomal recessive. Management involves protecting the skin, reducing friction against the skin, and keeping the skin cool." "" + "obsolete epidermolysis bullosa acquisita" "A chronic autoimmune inflammatory disorder characterized by the formation of subepidermal blisters in the skin and the mucous membranes." "" "true" + "epidermolysis bullosa dystrophica" "A genetic skin disorder caused by mutations in the type VII collagen gene (COL7A1). It is characterized by the formation of blisters and scarring in the skin and mucous membranes." "" + "malformation syndrome with skin/mucosae involvement" "True" + "inherited epidermolysis bullosa" "Inherited epidermolysis bullosa (EB) encompasses a number of disorders characterized by recurrent blister formation as the result of structural fragility within the skin and selected other tissues." "" + "erythema infectiosum" "A self-limited viral infectious disorder caused by the human parvovirus B19. It affects predominantly children and is characterized by the development of a bright red skin eruption in the cheeks. It is followed by a maculopapular skin eruption in the extremities which eventually fades into a lacey pattern." "" + "viral exanthem" "A virus-induced exanthem" "" + "erythema multiforme" "Erythema multiforme (EM) refers to a group ofhypersensitivity disorders characterized by symmetric red, patchy lesions, primarily on the arms and legs. The cause is unknown, but EM frequently occurs in association with herpes simplex virus, suggesting an immunologic process initiated by the virus. In half of the cases, the triggering agents appear to be medications, including anticonvulsants, sulfonamides, nonsteroidal anti-inflammatory drugs, and other antibiotics. In addition, some cases appear to be associated with infectious organisms such as Mycoplasma pneumoniae and many viral agents. Erythema multiforme is the mildest of three skin disorders that are often discussed in relation to each other. It is generally the mildest of the three. More severe is Stevens-Johnson syndrome. The most severe of the three is toxic epidermal necrolysis (TEN)." "" + "erythematosquamous dermatosis" "A skin condition that primarily affects the scalp and face and presents as scaly inflammation. Examples include itchy, dry skin and dandruff." "" + "facial dermatosis" "Facial Dermatosis, also known as facial dermatoses, is related tolipogranulomatosis. An important gene associated with Facial Dermatosis isCCNE1(cyclin E1). The drugsbetamethasoneandbetamethasone acetatehave been mentioned in the context of this disorder." "" + "fibroepithelial polyp of the anus" "A non-neoplastic polypoid lesion that arises from the anal canal or perianal skin. It is composed of dense fibrous stroma and it is covered by squamous epithelium." "" + "anal polyp" "A non-neoplastic or neoplastic polypoid lesion that arises from the anus. Representative examples include the fibroepithelial polyp and squamous papilloma." "" + "fibroepithelial polyp of urethra" "A benign polypoid lesion of mesodermal origin that arises from the urethra." "" + "alopecia mucinosa" "A rare dermatologic disorder characterized by the accumulation of mucinous material in the hair follicles. In some cases it is associated with lymphoproliferative disorders, most often mycosis fungoides and Hodgkin lymphoma." "" + "cutaneous focal mucinosis" "" + "sebaceous gland anomaly" "A epidermal appendage anomaly that involves the sebaceous gland." "" + "Fox-Fordyce disease" "Fox-Fordyce disease isa chronic skin diseasemost common in women aged 13-35 years.It is characterized by the development of intense itching in the underarm area, the pubic area, and around the nipple of the breast as a result of perspiration which becomes trapped in the sweat gland and surrounding areas. The cause is unknown,but heat, humidity, and stress may play a role. Treatment may include the use of retinoids, antibiotics, and immunosuppressants." "" + "granuloma annulare" "Granuloma annulare is a long-term (chronic) skin disease consisting of a rash with reddish bumps arranged in a circle or ring. The most commonly affected areas are the forearms, hands and feet. The lesions associated with granuloma annulare usually resolve without treatment. Strong steroids (applied as a cream or injection) are sometimes used to clear the rash more quickly. Most symptoms will disappear within 2 years (even without treatment), but recurrence is common. The underlying cause of granuloma annulare is unknown." "" + "granulomatous dermatitis" "An inflammatory reaction of the skin to various organic and inorganic antigens. It is characterized by tumor-like masses or nodules of granulomatous tissue comprised of activated histiocytes, epitheliod cells, and multinucleated giant cells." "" + "hand dermatosis" "Skin conditions characterised by dense infiltration of inflammatory cells (neutrophils) in the affected tissue. They arise in reaction to some underlying systemic illness. A neutrophilic dermatosis may be seen in isolation or more than one type may occur in the same individual." "" + "hemangioma of subcutaneous tissue" "A hemangioma arising from the subcutaneous soft tissues." "" + "pemphigoid gestationis" "A rare pregnancy-associated autoimmune skin disease that is characterised by an itchy rash that develops into blisters. It is most common during the second and third trimesters of pregnancy. It was previously known as herpes gestationis although it has no association with the herpes virus whatsoever." "" + "pemphigus" "Pemphigus is a group of rare autoimmune diseases that cause blistering of the skin and mucous membranes (mouth, nose, throat, eyes, and genitals).This conditioncan occur at any age, but often strikes people in middle or older age. Studies have shown that some populations may be at greater risk for certain types of pemphigus. For instance, people of Jewish descent and those from India, Southeast Europe, and the Middle East are at greater risk for pemphigus vulargis, while pemphigus foliaceus is more common in North America, Turkey, and South America. Pemphigus is a chronic disease which is best controlled by early diagnosis and treatment.Treatment includes steroids to reduce inflammation,drugs that suppress the immune system responseand antibiotics to treat associated infections. There are four main types of pemphigus: Pemphigus vulgaris Pemphigus foliaceus IgA pemphigus Paraneoplastic pemphigus" "" + "hidradenitis suppurativa" "A chronic suppurative and cicatricial disease of the apocrine glands occurring chiefly in the axillae in women and in the groin and anal regions in men. It is characterized by poral occlusion with secondary bacterial infection, evolving into abscesses which eventually rupture. As the disease becomes chronic, ulcers appear, sinus tracts enlarge, fistulas develop, and fibrosis and scarring become evident." "" + "hypohidrosis" "Reduced sweating. Causes include burns, dehydration, radiation, and leprosy." "" + "eyelid hypopigmentation" "Under-production of pigment in the eyelid." "" + "obsolete incontinentia pigmenti achromians" "" "true" + "inverted follicular keratosis" "Seborrheic keratosis that arises from follicular structures in the skin. It presents as a solitary nodule in the skin and is characterized by the presence of prominent squamous eddies." "" + "irritant dermatitis" "An inflammatory skin condition caused by direct contact between the skin and an irritating substance. It is typically manifested by erythema, mild edema, and scaling at the affected site." "" + "juvenile dermatitis herpetiformis" "Dermatitis herpetiformis in children" "" + "dermatitis herpetiformis" "Dermatitis herpetiformis (DH) is a chronic autoimmune subepidermal bullous disease characterized by grouped pruritic lesions such as papules, urticarial plaques, erythema, and herpetiform vesiculae, with a predominantly symmetrical distribution on extensor surfaces of the elbows (90%), knees (30%), shoulders, buttocks, sacral region, and face of children and adults. Erosions, excoriations and hyperpigmentation usually follow. DH may also appear as a consequence of gluten intolerance." "" + "keratinization disease" "" + "kernicterus due to isoimmunization" "Encephalopathy in infants due to high levels of unconjugated bilirubin that are a result of Rh incompatibility between the mother and the fetus." "" + "neonatal jaundice" "Jaundice that appears during the neonatal period. In the majority of cases, it appears in the first week of life and is classified as physiologic due to accelerated destruction of erythrocytes and liver immaturity. In a minority of cases it is classified as non-physiologic, appearing in the first twenty four hours after birth, and is associated with underlying diseases including hemolytic disorders, polycythemia, and cephalohematoma." "" + "bilirubin encephalopathy" "" + "obsolete Kimura disease" "" "true" + "leg dermatosis" "A nonspecific term used to denote any cutaneous lesion or group of lesions, or eruptions of any type on the leg. (From Stedman, 25th ed)" "" + "lichen disease" "A long-term skin condition that mainly affects the skin of the genitals. It usually causes itching and white patches to appear on the affected skin." "" + "lichen nitidus" "A chronic inflammatory disease characterized by shiny, flat-topped, usually flesh-colored micropapules no larger than the head of a pin. Lesions are localized in the early stages, found chiefly on the lower abdomen, penis, and inner surface of the thighs. Distribution may become generalized as the disease progresses." "" + "lichen planus" "A chronic, recurrent, pruritic inflammatory disorder of unknown etiology that affects the skin and mucus membranes. It presents with rashes and papules that tend to resolve spontaneously. It may be associated with hepatitis C. Certain drugs that contain arsenic or bismuth are associated with reactions mimicking lichen planus." "" + "lipodystrophy" "A congenital or acquired disorder characterized by abnormal loss or redistribution of the adipose tissue in the body." "" + "obsolete loiasis" "" "true" + "Ludwig's angina" "Severe cellulitis of the submaxillary space with secondary involvement of the sublingual and submental space. It usually results from infection in the lower molar area or from a penetrating injury to the mouth floor. (From Dorland, 27th ed)" "" + "maxillary sinus cholesteatoma" "A rare, progressive, non-neoplastic pathologic process that arises from the maxillary sinus mucosal epithelium. It is characterized by the proliferation of keratinizing squamous epithelium and the formation of keratin sheets. It may lead to bone erosion and infections. Surgical removal is the appropriate treatment." "" + "mediastinal lipomatosis" "A neoplastic process characterized by a diffuse poorly circumscribed overgrowth of adipose tissue in the mediastinum." "" + "melanoacanthoma" "A benign, darkly pigmented skin lesion characterized by proliferation of keratinocytes and melanocytes." "" + "miliaria" "A small (one mm or less) vesicular, papular or pustular monomorphous rash, which is associated with heat, fever or occlusion of sweat glands." "" + "miliaria rubra" "Miliaria rubraor prickly heat occurs deeper in the epidermis (outside layer of skin) and results in very itchy red papules (bumps)." "" + "mongolian spot" "A benign, flat, congenital birthmark, with wavy borders and an irregular shape. The colour is caused by melanocytes, melanin-containing cells, that are usually located in the surface of the skin (the epidermis), but are in the deeper region (the dermis) in the location of the spot." "" + "necrobiosis lipoidica" "Necrobiosis lipoidica is a rare skin disorder of collagen degeneration. It is characterized by a rash that occurs on the lower legs. It is more common in women, and there are usually several spots. They are slightly raised shiny red-brown patches. The centers are often yellowish and may develop open sores that are slow to heal. Infections can occur but are uncommon. Some patients have itching, pain, or abnormal sensations. It usually occurs more often in people with diabetes, in people with a family history of diabetes or a tendency to get diabetes, but can occur in nondiabetic people. About 11% to 65% of patients with necrobiosis lipoidica also have diabetes, but the exact cause is still not known. Treatment is difficult. The disease is typically chronic with variable progression and scarring." "" + "neurodermatitis" "Skin findings arising from repeated rubbing, picking or scratching of a real or imagined irritation of the skin." "" + "neurotic excoriation" "A condition in which patients produce skin lesions through repetitive, compulsive excoriation of their skin." "" + "obsolete nodular nonsuppurative panniculitis" "" "true" + "nonepidermolytic palmoplantar keratoderma" "Non-epidermolytic palmoplantar keratoderma is characterised by a diffuse non-epidermolytic palmoplantar keratoderma with frequent fungal infections. Prevalence in the general population is estimated at 1 in 40,000 but is much higher in northern Sweden (0.3-0.55%). Transmission is autosomal dominant and the causative gene has been localised to chromosome 12q11-q13." "" + "isolated diffuse palmoplantar keratoderma" "A diffuse palmoplantar keratoderma that is not part of a larger syndrome." "" + "occupational dermatitis" "Contact dermatitis associated with allergens or irritants found in the workplace." "" + "palmoplantar keratosis" "A group of autosomal dominant, autosomal recessive, X-linked inherited or acquired disorders characterized by the thickening of the palms and soles due to hyperkeratosis." "" + "panniculitis" "Inflammation of the subcutaneous adipose tissue." "" + "parapsoriasis" "Parapsoriasis describes a group ofskin diseases that can be characterized by scaly patches or slightly elevated papules and/or plaques (red, scaly patches) that have a resemblance to psoriasis. However, this description includes several inflammatory cutaneous diseases that are unrelated with respect to pathogenesis, histopathology, and response to treatment. Because of the variation in clinical presentation and a lack of a specific diagnostic finding on histopathology, a uniformly accepted definition of parapsoriasis remains lacking. There are 2 general forms: a small plaque type, which is usually benign, and a large plaque type, which is a precursor of cutaneous T-cell lymphoma (CTCL).Treatment of small plaque parapsoriasis is unnecessary but can include emollients, topical tar preparations or corticosteroids, and/or phototherapy. Treatment of large plaque parapsoriasis is phototherapy or topical corticosteroids." "" + "pelvic lipomatosis" "A neoplastic process characterized by a diffuse poorly circumscribed overgrowth of adipose tissue in the pelvic region. Clinical presentation includes complaints of back and abdominal pain, urinary frequency, perineal pain and constipation. It predominately affects black males." "" + "autoimmune bullous skin disease" "An autoimmune disease characterized by blisters on the skin." "" + "perinatal jaundice due to hepatocellular damage" "Jaundice in perinates due to cellular damange of liver." "" + "photoallergic dermatitis" "A delayed hypersensitivity involving the reaction between sunlight or other radiant energy source and a chemical substance to which the individual has been previously exposed and sensitized. It manifests as a papulovesicular, eczematous, or exudative dermatitis occurring chiefly on the light-exposed areas of the skin." "" + "radiodermatitis" "A cutaneous inflammatory reaction occurring as a result of exposure to biologically effective levels of ionizing radiation." "" + "phototoxic dermatitis" "Dermatitis caused or precipitated by exposure to ultraviolet sunlight, or by mediating phototoxic or photoallergic material in response to ultraviolet sunlight." "" + "porokeratosis" "A clonal proliferation of abnormal keratinocytes characterized by the development of localized or multiple atrophic skin patches surrounded by an annular keratotic ring called cornoid lamella." "" + "epidermal disease" "A skin disease that involves the epidermis." "" + "rosacea" "A chronic erythematous skin disorder that affects the face. It is characterized by the development of redness in the cheeks, nose, and/or forehead and telangiectasia. Sometimes, the erythematous changes may involve the eyelids." "" + "scalp dermatosis" "Dermotosis of scalp" "" + "scleredema adultorum" "A usually benign and self-limited skin disorder of unknown etiology, characterized by induration of the skin. It may be associated with infection, diabetes mellitus, and hematologic malignancies. Morphologically, there is deposition of mucin in the dermis." "" + "seborrheic dermatitis" "A chronic, inflammatory skin disorder that affects the scalp, central face and skin folds; it is characterized by scaling and itching." "" + "seborrheic infantile dermatitis" "Excessive shedding of dry scaly material from the scalp in humans." "" + "skin atrophy" "The degeneration and thinning of the epidermis and dermis. It is usually a manifestation of aging." "" + "skin sarcoidosis" "Formation of non-necrotizing granulomas in the skin. It may be a manifestation of systemic sarcoidosis or may also arise in isolation." "" + "steroid lipomatosis" "A neoplastic process characterized by a diffuse poorly circumscribed overgrowth of adipose tissue in the face, upper middle back, and sternal region. It is associated with adrenocortical steroid therapy or an increase in endogenous adrenocortical hormone." "" + "stromal corneal pigmentation" "Stromal pigmentation such as that in ochronosis results from chronic irritation. The melanin is in the superficial stroma and the basal layer of the corneal epithelium." "" + "subcorneal pustular dermatosis" "A rare, benign, chronic disease characterized by sterile pustular eruption, typically involving the flexural sites of the trunk and proximal extremities." "" + "toxicodendron dermatitis" "An allergic contact dermatitis caused by exposure to plants of the genus Toxicodendron (formerly Rhus). These include poison ivy, poison oak, and poison sumac, all plants that contain the substance urushiol, a potent skin sensitizing agent. (From Dorland, 27th ed)" "" + "vibratory urticaria" "This very rare form of angioedema develops in reply to contact with vibration. In vibratory angioedema, symptoms develop within two to five minutes after contact with vibration and dissolve after about an hour. Patients with this disorder do not suffer from dermographism or pressure urticaria. Vibratory angioedema is diagnosed by holding a vibrating device such as a laboratory vortex machine against the forearm for four minutes. Speedy swelling of the whole forearm extending into the upper arm is also noted later. The principal treatment is avoidance of vibratory stimulants. Antihistamines have also been proven helpful." "" + "vulva fibroepithelial polyp" "A polypoid lesion that arises from the vulva and is characterized by the presence of fibrovascular stroma lined by squamous epithelium. There is no evidence of epithelial atypia." "" + "polyp of vulva" "A polyp that involves the mammalian vulva." "" + "vulvar inverted follicular keratosis" "Seborrheic keratosis that arises from follicular structures in the vulva. It is characterized by the presence of prominent squamous eddies." "" + "vulvar seborrheic keratosis" "A benign squamous neoplasm that arises from the vulva. It is characterized by the proliferation of the basal cells in the squamous epithelium, acanthosis, hyperkeratosis, and cysts formation." "" + "inherited skin tumor" "" + "obsolete autoimmune pancreatitis type 1" "" "true" + "overactive bladder" "Symptom of overactive detrusor muscle of the urinary bladder that contracts with abnormally high frequency and urgency. Overactive bladder is characterized by the frequent feeling of needing to urinate during the day, during the night, or both. urinary incontinence may or may not be present." "" + "altitude sickness" "Multiple symptoms associated with reduced oxygen at high altitude." "" + "obsolete microscopic polyangiitis" "" "true" + "obsolete Sezary disease" "" "true" + "osteoarthritis, hip" "Noninflammatory degenerative disease of the hip joint which usually appears in late middle or old age. It is characterized by growth or maturational disturbances in the femoral neck and head, as well as acetabular dysplasia. A dominant symptom is pain on weight-bearing or motion." "" + "osteoarthritis, spine" "A degenerative joint disease involving the spine. It is characterized by progressive deterioration of the spinal articular cartilage (cartilage, articular), usually with hardening of the subchondral bone and outgrowth of bone spurs (osteophyte)." "" + "osteoarthritis, toe" "Osteoarthritis of the foot generally affects the joint at the base of your big toe. It can cause your toe to: - become stiff over time, which can make it difficult and painful to walk – this is called hallux rigidus - become bent, which can lead to painful bunions (bony lumps at the base of your big toe) – this is called hallux valgus. Osteoarthritis of the mid-foot is also quite common, especially in older people, and may cause an obvious bony swelling (osteophyte) on the top of your mid-foot. Ankle osteoarthritis is least common and may cause your heel to move to an unusual angle." "" + "osteoarthritis, hand" "Osteoarthritis of the hands usually happens as part of nodal osteoarthritis (a form of osteoarthritis that runs in families). This mainly affects women and often starts in your 40s or 50s, around the menopause (the time when menstruation ends and it’s no longer possible to have children)." "" + "acalculous cholecystitis" "Inflammation of the gallbladder in the absence of gallstones." "" + "pituitary gland acidophil adenoma" "An epithelial neoplasm of the anterior pituitary gland in which the neoplastic cells stain positive with acidic dyes." "" + "Acinetobacter infectious disease" "Infections with bacteria of the genus acinetobacter." "" + "Moraxellaceae infectious disease" "Infections with bacteria of the family moraxellaceae." "" + "acute kidney tubular necrosis" "Acute renal failure caused by the cell death of the renal tubules. Causes include nephrotoxins, cytotoxic drugs, and antibiotics." "" + "acute retinal necrosis syndrome" "Mild to fulminant necrotizing vaso-occlusive retinitis associated with a high incidence of retinal detachment and poor vision outcome." "" + "adrenal cortex carcinoma" "A rare, usually large (greater than 5cm), malignant epithelial tumor arising from the adrenal cortical cells. Symptoms are usually related to the excessive production of hormones, and include Cushing's syndrome and virilism in women. Common sites of metastasis include liver, lung, bone, and retroperitoneal lymph nodes. Advanced radiologic procedures have enabled the detection of small tumors, resulting in the improvement of the 5-year survival." "" + "adrenal/paraganglial tumor" "" + "malignant tumor of adrenal cortex" "A cancer that involves the adrenal cortex." "" + "ACTH-independent Cushing syndrome due to rare cortisol-producing adrenal tumor" "True" + "afferent loop syndrome" "A complication of gastrojejunostomy (billroth II procedure), a reconstructive gastroenterostomy. It is caused by acute (complete) or chronic (intermittent) obstruction of the afferent jejunal loop due to hernia, intussusception, kinking, volvulus, etc. It is characterized by pain and vomiting of bile-stained fluid." "" + "alcohol withdrawal delirium" "An acute organic mental disorder induced by cessation or reduction in chronic alcohol consumption. Clinical characteristics include confusion; delusions; vivid hallucinations; tremor; agitation; insomnia; and signs of autonomic hyperactivity (e.g., elevated blood pressure and heart rate, dilated pupils, and diaphoresis). This condition may occasionally be fatal. It was formerly called delirium tremens. (From Adams et al., Principles of Neurology, 6th ed, p1175)" "" + "alcoholic cardiomyopathy" "A dilated cardiomyopathy which is associated with consumption of large amounts of alcohol over a period of years." "" + "alcoholic liver cirrhosis" "A disorder of the liver characterized by the presence of fibrotic scar tissue instead of healthy liver tissue. This condition is attributed to excessive consumption of alcoholic beverages." "" + "alcoholic polyneuropathy" "Any disease affecting more than one nerve." "" + "anterior cerebral artery infarction" "Necrosis occurring in the anterior cerebral artery system, including branches such as Heubner's artery. These arteries supply blood to the medial and superior parts of the cerebral hemisphere, Infarction in the anterior cerebral artery usually results in sensory and motor impairment in the lower body." "" + "anterior compartment syndrome" "Rapid swelling, increased tension, pain, and ischemic necrosis of the muscles of the anterior tibial compartment of the leg, often following excessive physical exertion." "" + "anterior spinal artery syndrome" "Ischemia or infarction of the spinal cord in the distribution of the anterior spinal artery, which supplies the ventral two-thirds of the spinal cord. This condition is usually associated with atherosclerosis of the aorta and may result from dissection of an aortic aneurysm or rarely dissection of the anterior spinal artery. Clinical features include weakness and loss of pain and temperature sensation below the level of injury, with relative sparing of position and vibratory sensation. (From Adams et al., Principles of Neurology, 6th ed, pp1249-50)" "" + "anthracosilicosis" "Fibrosis of the lung parenchyma caused by inhalation of carbon and silica dust. It manifests as shortness of breath." "" + "anthracosis" "A chronic lung disorder characterized by deposition of coal dust in the lung parenchyma leading to the formation of black nodules and emphysema. It occurs in coal miners." "" + "aortic valve prolapse" "The downward displacement of the cuspal or pointed end of the trileaflet aortic valve causing misalignment of the cusps. Severe valve distortion can cause leakage and allow the backflow of blood from the ascending aorta back into the left ventricle, leading to aortic regurgitation." "" + "aortitis" "Inflammation of the aorta. Causes include trauma, infectious disorders, and connective tissue disorders." "" + "apparent mineralocorticoid excess syndrome" "An autosomal recessive disorder caused by a deficiency of 11-beta-hydroxysteroid dehydrogenase, which is characterized by hypertension, hypokalemia, low renin, and hypoaldosteronism." "" + "syndromic dyslipidemia" "A inherited lipid metabolism disorder that is part of a larger syndrome." "" + "arteriolosclerosis" "The thickening of the wall of the small arteries and arterioles. It is caused by deposition of hyaline material in the wall or concentric smooth muscle wall hypertrophy. It results in lumen narrowing and tissue ischemia." "" + "coronary atherosclerosis" "Atherosclerosis of the coronary vasculature." "" + "arteriosclerosis obliterans" "Common occlusive arterial disease which is caused by atherosclerosis. It is characterized by lesions in the innermost layer (arterial intima) of arteries including the aorta and its branches to the extremities. Risk factors include smoking, hyperlipidemia, and hypertension." "" + "arthus reaction" "A localized vasculitis resulting from deposition of antibody-antigen complexes." "" + "type III hypersensitivity disease" "Group of diseases mediated by the deposition of large soluble complexes of antigen and antibody with resultant damage to tissue. Besides serum sickness and the arthus reaction, evidence supports a pathogenic role for immune complexes in many other immune system diseases including glomerulonephritis, systemic lupus erythematosus (lupus erythematosus, systemic) and polyarteritis nodosa." "" + "ascorbic acid deficiency" "A condition due to a dietary deficiency of ascorbic acid (vitamin C), characterized by malaise, lethargy, and weakness. As the disease progresses, joints, muscles, and subcutaneous tissues may become the sites of hemorrhage. Ascorbic acid deficiency frequently develops into scurvy in young children fed unsupplemented cow's milk exclusively during their first year. It develops also commonly in chronic alcoholism. (Cecil Textbook of Medicine, 19th ed, p1177)" "" + "aseptic meningitis" "Inflammation of the membranes surrounding the brain and spinal cord without a bacterial pathogen." "" + "viral meningitis" "Inflammation of the membranes surrounding the brain and spinal cord due to a viral infection." "" + "perinatal asphyxia" "A disorder caused by a lack of blood flow or gas exchange to or from the fetus in the period immediately before, during, or after the birth process." "" + "atrial septal defect" "Interauricular communication is a congenital malformation characterized by a communication between the atrial chambers of the heart." "" + "genetic cardiac anomaly" "" + "atrial defect and interatrial communication" "" + "chronic atrophic gastritis" "Atrophic gastritis that is persistent and long-standing." "" + "atrophy of thyroid" "Tissue degeneration and diminished size of the thyroid gland." "" + "obsolete B- and T-cell mixed leukemia" "" "true" + "bacterial endocarditis" "Endocarditis that is caused by an infection with a bacterial agent." "" + "Bacteroides infectious disease" "Infections with bacteria of the genus bacteroides." "" + "Bacteroidaceae infectious disease" "Infections with bacteria of the family BACTEROIDACEAE." "" + "pituitary gland basophil adenoma" "An epithelial neoplasm of the anterior pituitary gland in which the neoplastic cells stain positive with basic dyes." "" + "obsolete benign fibrous mesothelioma" "A rare neoplasm, usually benign, derived from mesenchymal fibroblasts located in the submesothelial lining of the PLEURA. It spite of its various synonyms, it has no features of mesothelial cells and is not related to malignant MESOTHELIOMA or asbestos exposure." "" "true" + "obsolete benign monoclonal gammopathy" "" "true" + "beriberi" "Beriberi is a condition that occurs in people who are deficient in thiamine (vitamin B1). There are two major types of beriberi: wet beriberi which affects the cardiovascular system and dry beriberi which affects the nervous system. People with wet beriberi may experience increased heart rate, shortness of breath, and swelling of the lower legs. Signs and symptoms of dry beriberi include difficulty walking; loss of feeling in the hands and/or feet; paralysis of the lower legs; mental confusion; speech difficulty; pain; and/or vomiting. Beriberi is rare in the United States since many foods are now vitamin enriched; however, alcohol abuse, dialysis and taking high doses of diuretics increases the risk of developing the condition. In most cases,beriberi occurs sporadically in people with no family history of the condition. A rare condition known as genetic beriberi is inherited (passed down through families) and is associated with an inability to absorb thiamine from foods. Treatment generally includes thiamine supplementation, given by injection or taken by mouth." "" + "Wernicke-Korsakoff syndrome" "Wernicke-Korsakoff syndrome is a brain disorder, due to thiamine deficiency that has been associated with both Wernicke's encephalopathy and Korsakoff syndrome. The term refers to two different syndromes, each representing a different stage of the disease. Wernicke's encephalopathy represents the 'acute' phase and Korsakoff's syndrome represents the 'chronic' phase. However, they are used interchangeable in many sites. Wernicke's encephalopathy is characterized by confusion, abnormal stance and gait (ataxia), and abnormal eye movements (nystagmus). Korsakoff's syndrome is observed in a small number of patients. It is a type of dementia, characterized by memory loss and confabulation (filling in of memory gaps with data the patient can readily recall) and involvement of the heart, vascular, and nervous system. Wernicke-Korsakoff syndrome mainly results from chronic alcohol use, but also from dietary deficiencies, prolonged vomiting, eating disorders, systemic diseases (cancer, AIDS, infections), bariatric surgery, transplants, or the effects of chemotherapy. Studies indicate that there may be some genetic predisposition for the disease.Treatment involves supplementing the diet with thiamine. Wernicke encephalopathy is an acute syndrome and requires emergency treatment to prevent death and neurologic complications. In cases where the diagnosis is not confirmed, patients should still be treated while additional evaluations are completed." "" + "bile reflux" "Retrograde bile flow. Reflux of bile can be from the duodenum to the stomach (duodenogastric reflux); to the esophagus (gastroesophageal reflux); or to the pancreas." "" + "bladder neck obstruction" "Blockage of the opening between the bladder and the urethra resulting in the reduction or prevention of the urine flow from the bladder into the urethra." "" + "blue nevus" "An intradermal nevus characterized by the presence of benign pigmented dendritic spindle-shaped melanocytes. It most frequently occurs in the skin of the distal upper extremities, followed by the lower extremities, scalp, face, and buttocks. It usually presents as a single blue or blue-black papular lesion less than 1cm in diameter. Simple excision is usually curative." "" + "Borrelia infectious disease" "Infections with bacteria of the genus borrelia." "" + "brachial plexus neuritis" "An inflammatory process affecting the brachial plexus. It results in severe pain in the upper extremity and shoulder, upper arm weakness and loss of sensation in the upper arm." "" + "brain edema" "Increased intracellular or extracellular fluid in brain tissue. Cytotoxic brain edema (swelling due to increased intracellular fluid) is indicative of a disturbance in cell metabolism, and is commonly associated with hypoxic or ischemic injuries (see hypoxia, brain). An increase in extracellular fluid may be caused by increased brain capillary permeability (vasogenic edema), an osmotic gradient, local blockages in interstitial fluid pathways, or by obstruction of csf flow (e.g., obstructive hydrocephalus). (From Childs Nerv Syst 1992 Sep; 8(6):301-6)" "" + "brain hypoxia - ischemia" "A disorder characterized by a reduction of oxygen in the blood combined with reduced blood flow (ischemia) to the brain from a localized obstruction of a cerebral artery or from systemic hypoperfusion. Prolonged hypoxia-ischemia is associated with ischemic attack, transient; brain infarction; brain edema; coma; and other conditions." "" + "brain stem infarction" "Infarctions that occur in the brain stem which is comprised of the midbrain; pons; and medulla oblongata. There are several named syndromes characterized by their distinctive clinical manifestations and specific sites of ischemic injury." "" + "burning mouth syndrome" "A condition characterized by a burning or tingling sensation on the lips, tongue, or entire mouth." "" + "headache disorder" "Various conditions with the symptom of headache. Headache disorders are classified into major groups, such as primary headache disorders (based on characteristics of their headache symptoms) and secondary headache disorders (based on their etiologies). (International Classification of Headache Disorders, 2nd ed. Cephalalgia 2004: suppl 1)" "" + "byssinosis" "An occupational lung disorder caused by exposure to cotton dust. It occurs more commonly in workers in the textile industry. Signs and symptoms include chest tightness, cough and wheezing. The symptoms tend to get worse at the beginning of the week and subside by the end of the week." "" + "obsolete carcinoid syndrome" "" "true" + "carotid artery thrombosis" "Blood clot formation in any part of the carotid arteries. This may produce carotid stenosis or occlusion of the vessel, leading to transient ischemic attack; cerebral infarction; or amaurosis fugax." "" + "obsolete causalgia" "" "true" + "central pontine myelinolysis" "A central nervous system disorder caused by demyelination within the central basis pontis of the brain. It is characterized by spastic quadriplegia, pseudobulbar palsy and encephalopathy. It is observed in patients with severe hyponatremia, particularly when the hyponatremia is corrected too rapidly." "" + "intracranial arterial disease" "Pathological conditions involving arteries in the skull, such as arteries supplying the cerebrum, the cerebellum, the brain stem, and associated structures. They include atherosclerotic, congenital, traumatic, infectious, inflammatory, and other pathological processes." "" + "cerebral atherosclerosis" "Atherosclerosis of the cerebral vasculature." "" + "obsolete cervical rib syndrome" "" "true" + "cervix erosion" "Loss or destruction of the epithelial lining of the uterine cervix." "" + "obsolete Chlamydophila infectious disease" "" "true" + "cholecystolithiasis" "Single or multiple, ovoid or irregular, solid particles that are formed from bile, cholesterol, and calcium in the gallbladder cavity." "" + "choledocholithiasis" "Presence or formation of gallstones in the common bile duct." "" + "choroid neoplasm" "A neoplasm (disease) that involves the optic choroid." "" + "chromophobe adenoma" "An epithelial neoplasm of the anterior pituitary gland in which the neoplastic cells do not stain with acidic or basic dyes." "" + "chronic inflammatory demyelinating polyradiculoneuropathy" "A rare neurological disorder in which there is inflammation of nerve roots and peripheral nerves and destruction of the fatty protective covering (myelin sheath) over the nerves. This affects how fast the nerve signals are transmitted and leads to loss of nerve fibers. This causes weakness, paralysis and/or impairment in motor function, especially of the arms and legs (limbs). Sensory disturbance may also be present. The motor and sensory impairments usually affect both sides of the body (symmetrical), and the degree of severity and the course of disease may vary from case to case. Some affected individuals may follow a slow steady pattern of symptoms while others may have symptoms that stabilize and then relapse." "" + "obsolete chronic interstitial cystitis" "" "true" + "" "true" + "Desulfovibrionaceae infectious disease" "Infections with bacteria of the family Desulfovibrionaceae." "" + "complex partial epilepsy" "A disorder characterized by recurrent partial seizures marked by impairment of cognition. During the seizure the individual may experience a wide variety of psychic phenomenon including formed hallucinations, illusions, deja vu, intense emotional feelings, confusion, and spatial disorientation. Focal motor activity, sensory alterations and automatism may also occur. Complex partial seizures often originate from foci in one or both temporal lobes. The etiology may be idiopathic (cryptogenic partial complex epilepsy) or occur as a secondary manifestation of a focal cortical lesion (symptomatic partial complex epilepsy). (From Adams et al., Principles of Neurology, 6th ed, pp317-8)" "" + "constrictive pericarditis" "A heart disorder in which the pericardial sac becomes thickened and fibrotic, tightening the myocardium and impeding the normal myocardial function." "" + "coronary aneurysm" "Abnormal balloon- or sac-like dilatation in the wall of coronary vessels. Most coronary aneurysms are due to coronary atherosclerosis, and the rest are due to inflammatory diseases, such as kawasaki disease." "" + "heart aneurysm" "A localized bulging or dilatation in the muscle wall of a heart (myocardium), usually in the left ventricle. Blood-filled aneurysms are dangerous because they may burst. Fibrous aneurysms interfere with the heart function through the loss of contractility. True aneurysm is bound by the vessel wall or cardiac wall. False aneurysms are hematoma caused by myocardial rupture." "" + "coronary thrombosis" "Coagulation of blood in any of the coronary vessels. The presence of a blood clot (thrombus) often leads to myocardial infarction." "" + "cutaneous fibrous histiocytoma" "A benign, intermediate, or malignant mesenchymal neoplasm composed of fibrohistiocytic cells, spindle fibroblastic cells, and histiocytes, in a storiform pattern." "" + "obsolete cystic lymphangioma" "" "true" + "de Quervain disease" "Stenosing tenosynovitis of the abductor pollicis longus and extensor pollicis brevis tendons in the first dorsal wrist compartment. The presenting symptoms are usually pain and tenderness at the radial styloid. The cause is almost always related to overuse injury or is associated with rheumatoid arthritis." "" + "dental fluorosis" "A condition that results from excessive fluoride ingestion during tooth development, resulting in tooth discoloration ranging from white streaks to brown stains and cracks or pits in the tooth enamel." "" + "denture stomatitis" "Inflammation of the mouth due to denture irritation." "" + "obsolete desmoplastic small round cell tumor" "" "true" + "obsolete diabetic angiopathy" "" "true" + "diaphragmatic eventration" "A congenital or acquired abnormality characterized by elevation of the hemidiaphragm." "" + "diastolic heart failure" "Heart failure caused by abnormal myocardial relaxation during diastole leading to defective cardiac filling." "" + "obsolete discitis" "Inflammation of an intervertebral disc or disk space which may lead to disk erosion. Until recently, discitis has been defined as a nonbacterial inflammation and has been attributed to aseptic processes (e.g., chemical reaction to an injected substance). However, recent studies provide evidence that infection may be the initial cause, but perhaps not the promoter, of most cases of discitis. Discitis has been diagnosed in patients following discography, myelography, lumbar puncture, paravertebral injection, and obstetrical epidural anesthesia. Discitis following chemonucleolysis (especially with chymopapain) is attributed to chemical reaction by some and to introduction of microorganisms by others." "" "true" + "discrete subaortic stenosis" "A type of constriction that is caused by the presence of a fibrous ring (discrete type) below the aortic valve, anywhere between the aortic valve and the mitral valve. It is characterized by restricted outflow from the left ventricle into the aorta." "" + "subvalvular aortic stenosis" "An aortic stenosis caused by fibromuscular stenosis or hypertrophic cardiomyopathy. It may be associated with congenital heart defects." "" + "drug psychosis" "Psychotic organic mental disorders resulting from the toxic effect of drugs and chemicals or other harmful substance." "" + "drug-induced akathisia" "An uncomfortable feeling of inner restlessness and inability to stay still. It can be a side effect of psychotropic medications." "" + "drug-induced dyskinesia" "Abnormal movements, including hyperkinesis; hypokinesia; tremor; and dystonia, associated with the use of certain medications or drugs. Muscles of the face, trunk, neck, and extremities are most commonly affected. Tardive dyskinesia refers to abnormal hyperkinetic movements of the muscles of the face, tongue, and neck associated with the use of neuroleptic agents (see antipsychotic agents). (Adams et al., Principles of Neurology, 6th ed, p1199)" "" + "benign duodenal neoplasm" "A non-metastasizing neoplasm arising from the wall of the duodenum." "" + "duodenogastric reflux" "Retrograde flow of duodenal contents (bile acids; pancreatic juice) into the stomach." "" + "gastroesophageal reflux disease" "A chronic disorder characterized by reflux of the gastric and/or duodenal contents into the distal esophagus. It is usually caused by incompetence of the lower esophageal sphincter. Symptoms include heartburn and acid indigestion. It may cause injury to the esophageal mucosa." "" + "dysplasia of cervix" "Abnormal development of immature squamous epithelial cells of the uterine cervix, a term used to describe premalignant cytological changes in the cervical epithelium. These atypical cells do not penetrate the epithelial basement membrane." "" + "dystocia" "Slow or difficult obstetric labor or childbirth." "" + "eccrine acrospiroma" "A rare cutaneous tumor of eccrine sweat gland origin. It is most commonly found on the extremities and is usually benign. There is no indication that heredity or external agents cause these tumors." "" + "Ehrlich tumor carcinoma" "A transplantable, poorly differentiated malignant tumor which appeared originally as a spontaneous breast carcinoma in a mouse. It grows in both solid and ascitic forms." "" + "empty sella syndrome" "Empty sella syndrome (ESS) is a condition that involves the sella turcica, a bony structure at the base of the brain that protects the pituitary gland. There is a primary and secondary form of the condition. The primary form occurs when a structural defect above the pituitary gland increases pressure in the sella turcica and causes the gland to flatten. The secondary form occurs when the pituitary gland is damaged due to injury, a tumor, surgery or radiation therapy. Some people with ESS have no symptoms. People with secondary ESS may have symptoms of decreased pituitary function such as absence of menstruation, infertility, fatigue, and intolerance to stress and infection. In children, ESS may be associated with early onset of puberty, growth hormone deficiency, pituitary tumors, or pituitary gland dysfunction. Treatment focuses on the symptoms present in each person." "" + "encephalomalacia" "Localized atrophy of the brain parenchyma due to aging, hemorrhage, infarct, or inflammation." "" + "endemic goiter" "Thyroid gland enlargement caused by inadequate dietary iodine intake. It occurs in areas in which the soil lacks iodine compounds or there is low seafood consumption." "" + "endolymphatic hydrops" "An accumulation of endolymph in the inner ear (labyrinth) leading to buildup of pressure and distortion of intralabyrinthine structures, such as cochlea and semicircular canals. It is characterized by sensorineural hearing loss; tinnitus; and sometimes vertigo." "" + "obsolete rare cancer of corpus uteri" "True" "true" + "endomyocardial fibrosis" "A disease characterized by fibrotic thickening of the endocardium, particularly the right and/or left inflow tracts. The disease often involves the atrioventricular valves, leading to valvular regurgitaion. It most commonly occurs in children living within 15 degrees of the equator." "" + "enterotoxemia" "Disease caused by the liberation of exotoxins of clostridium perfringens in the intestines of sheep, goats, cattle, foals, and piglets. Type B enterotoxemia in lambs is lamb dysentery; type C enterotoxemia in mature sheep produces 'struck', and in calves, lambs and piglets it produces hemorrhagic enterotoxemia; type D enterotoxemia in sheep and goats is pulpy-kidney disease or overeating disease." "" + "epilepsia partialis continua" "A variant of epilepsy characterized by continuous focal jerking of a body part over a period of hours, days, or even years without spreading to other body regions. Contractions may be aggravated by movement and are reduced, but not abolished during sleep. electroencephalography demonstrates epileptiform (spike and wave) discharges over the hemisphere opposite to the affected limb in most instances. The repetitive movements may originate from the cerebral cortex or from subcortical structures (e.g., brain stem; basal ganglia). This condition is associated with Russian Spring and Summer encephalitis (see encephalitis, tick borne); Rasmussen syndrome (see encephalitis); multiple sclerosis; diabetes mellitus; brain neoplasms; and cerebrovascular disorders. (From Brain, 1996 April;119(pt2):393-407; Epilepsia 1993;34;Suppl 1:S29-S36; and Adams et al., Principles of Neurology, 6th ed, p319)" "" + "mixed epithelioid and spindle cell melanoma" "A melanoma characterized by the presence of malignant large epithelioid melanocytes and malignant spindle-shaped melanocytes." "" + "obsolete Erdheim-Chester disease" "" "true" + "Erysipelothrix infectious disease" "Infections with bacteria of the genus erysipelothrix." "" + "gram-positive bacterial infections" "Infections caused by bacteria that retain the crystal violet stain (positive) when treated by the gram-staining method." "" + "Escherichia coli meningitis" "A form of gram-negative meningitis that tends to occur in neonates, in association with anatomical abnormalities (which feature communication between the meninges and cutaneous structures) or as opportunistic infections in association with immunologic deficiency syndromes. In premature neonates the clinical presentation may be limited to anorexia; vomiting; lethargy; or respiratory distress. Full-term infants may have as additional features fever; seizures; and bulging of the anterior fontanelle. (From Menkes, Textbook of Child Neurology, 5th ed, pp398-400)" "" + "esophageal diverticulosis" "A pathological condition characterized by the presence of a number of esophageal diverticula in the esophagus." "" + "euthyroid sick syndrome" "Abnormal thyroid function tests, low triiodothyronine with elevated reverse triiodothyronine, in the setting of non-thyroidal illness." "" + "obsolete extracutaneous mastocytoma" "" "true" + "extrahepatic cholestasis" "Impairment of the bile flow caused by an obstruction in the portion of the bile duct system located outside of the liver." "" + "female genital tuberculosis" "Mycobacterium infections of the female reproductive tract (genitalia, female)." "" + "femoral neuropathy" "Neuropathy of the femoral nerve." "" + "fetal erythroblastosis" "A disorder of the fetus or newborn that occurs when fetal cells that are coated with IgG alloantibodies from the mother attack antigens inherited from the father. Severity can range from absence of symptoms to death." "" + "fibromuscular dysplasia" "A disorder characterized by fibrous thickening of the arterial wall resulting in narrowing of the arterial lumen. It most often affects the renal artery and less often the carotid artery and abdominal arteries. It can cause hypertension and aneurysm formation." "" + "freemartinism" "A condition occurring in the female offspring of dizygotic twins (twin, dizygotic) in a mixed-sex pregnancy, usually in cattle. Freemartinism can occur in other mammals. When placental fusion between the male and the female fetuses permits the exchange of fetal cells and fetal hormones, testicular hormones from the male fetus can androgenize the female fetus producing a sterile xx/xy chimeric 'female'(chimerism)." "" + "sex chromosome disorder of sex development" "Congenital conditions of atypical sexual development associated with abnormal sex chromosome constitutions including monosomy; trisomy; and mosaicism." "" + "cattle disease" "Diseases of domestic cattle of the genus Bos. It includes diseases of cows, yaks, and zebus." "" + "frozen shoulder" "Inflammation or irritation of a bursa, the fibrous sac that acts as a cushion between moving structures of bones, muscles, tendons or skin." "" + "Fusobacterium infectious disease" "Infections with bacteria of the genus fusobacterium." "" + "Fusobacteriaceae infectious disease" "Infections with bacteria of the family Fusobacteriaceae, in the order Fusobacterales, phylum fusobacteria." "" + "gait apraxia" "Impaired ambulation not attributed to sensory impairment or motor weakness. frontal lobe disorders; basal ganglia diseases (e.g., parkinsonian disorders); dementia, multi-infarct; alzheimer disease; and other conditions may be associated with gait apraxia." "" + "gastric antral vascular ectasia" "Dilatation of the vessels in the antrum of the stomach. It is associated with portal hypertension, scleroderma, and chronic renal failure. It may cause gastric bleeding." "" + "obsolete gastric outlet obstruction" "Narrowing of the pyloric lumen caused either by hypertrophy of the surrounding muscles or tissue scarring due to a chronic peptic ulcer." "" "true" + "gastroparesis" "Paralysis of the muscles of the stomach wall resulting in delayed emptying of the gastric contents into the small intestine." "" + "giant cell reparative granuloma" "A rare tumor-like lesion of the hands and feet characterized by the presence of hemorrhagic fibrous tissue, hemosiderin deposition, osteoclast-like giant cells which are irregularly distributed, and reactive bone formation. Pain and swelling are the most frequent symptoms. It may recur following curettage, but is usually cured after a second procedure." "" + "obsolete glycogen storage disease VIII" "" "true" + "gonadal tissue neoplasm" "Neoplasms composed of tissues of the ovary or the testis, not neoplasms located in the ovaries or testes. Gonadal tissues include germ cells, cells from the sex cord, and gonadal stromal cells." "" + "habitual spontaneous abortion" "Three or more consecutive spontaneous abortions." "" + "obsolete haemophilus influenzae meningitis" "" "true" + "obsolete hairy cell leukemia" "" "true" + "hairy tongue" "A benign condition affecting the dorsum of the tongue. It is characterized by defective desquamation resulting in elongation of the filiform papillae. The dorsum of the tongue has a furry appearance and is usually stained black." "" + "halo nevus" "A benign melanocytic nevus with a halo appearance." "" + "heartwater disease" "A tick-borne septicemic disease of domestic and wild ruminants caused by ehrlichia ruminantium." "" + "Helicobacter pylori infectious disease" "Infections with organisms of the genus HELICOBACTER, particularly, in humans, HELICOBACTER PYLORI. The clinical manifestations are focused in the stomach, usually the gastric mucosa and antrum, and the upper duodenum. This infection plays a major role in the pathogenesis of type B gastritis and peptic ulcer disease." "" + "hemometra" "Blood-filled uterus." "" + "hemopneumothorax" "Collection of air and blood in the pleural cavity." "" + "hemorrhagic disease of newborn" "A condition characterized as a coagulation disturbance in newborns due to vitamin K deficiency resulting in impaired production of coagulation factors II, VII, IX, and X, and proteins C and S by the liver." "" + "Henoch-Schoenlein purpura" "A systemic, usually self-limited immune complex vasculitis, characterized by immunoglobulin A deposition in the small vessels and kidneys. It is manifested with small hemorrhages in the skin, gastrointestinal symptoms, arthritis, and nephropathy." "True" + "hepatic vein thrombosis" "A condition in which the hepatic venous outflow is obstructed anywhere from the small hepatic veins to the junction of the inferior vena cava and the right atrium. Usually the blockage is extrahepatic and caused by blood clots (thrombus) or fibrous webs. Parenchymal fibrosis is uncommon." "" + "hidrocystoma" "A benign cystic proliferation of the sweat glands with apocrine or eccrine differentiation. It usually presents as a dome-shaped, cystic papular or nodular lesion usually in the face and neck. It is a unilocular or mutlilocular lesion lined by an inner and an outer layer of epithelium. Complete excision is usually curative." "" + "hydrophthalmos" "Abnormal enlargement of the eye" "" + "hyperamylasemia" "Abnormally high level of amylase in the blood." "" + "hypercementosis" "A regressive change of teeth characterized by excessive development of secondary cementum on the tooth surface. It may occur on any part of the root, but the apical two-thirds are most commonly affected. (Dorland, 27th ed)" "" + "hyperemesis gravidarum" "Severe, intractable vomiting during pregnancy (usually the first trimester) accompanied by dehydration, weight loss, and electrolyte imbalances." "" + "hyperglobulinemic purpura" "Purplish or brownish red discoloration of the skin associated with increase in circulating polyclonal globulins, usually gamma-globulins. This syndrome often occurs on the legs of women aged 20 to 40 years." "" + "anterior pituitary gland disease" "A disease that involves the adenohypophysis." "" + "hypersplenism" "Overactive functioning of the spleen, resulting in excessive destruction of blood cells." "" + "hypertensive encephalopathy" "Encephalopathy resulting from hypertension." "" + "intracranial hypertension" "A finding characterized by increased cerebrospinal fluid pressure within the skull." "" + "hypertensive retinopathy" "Retinopathy due to hypertension." "" + "hypervitaminosis A" "A symptom complex resulting from ingesting excessive amounts of vitamin A." "" + "hypothalamic neoplasm" "A primary or metastatic neoplasm that affects the hypothalamus." "" + "ideomotor apraxia" "A form of apraxia characterized by an acquired inability to carry out a complex motor activity despite the ability to mentally formulate the action. This condition has been attributed to a disruption of connections between the dominant parietal cortex and supplementary and premotor cortical regions in both hemispheres. (From Adams et al., Principles of Neurology, 6th ed, p57)" "" + "inappropriate ADH syndrome" "A syndrome characterized by abnormal secretion of antidiuretic hormone in conjunction with neoplastic growth occurring anywhere in the body." "" + "ectopic hormone secretion syndrome associated with neoplasia" "Abnormal secretion of hormones in conjunction with neoplastic growth occurring anywhere in the body." "" + "inferior myocardial infarction" "Myocardial infarction in which the inferior wall of the heart is involved. It is often caused by occlusion of the right coronary artery." "" + "inflammatory breast carcinoma" "An advanced, invasive breast adenocarcinoma characterized by the presence of distinct changes in the overlying skin. These changes include diffuse erythema, edema, peau d'orange (skin of an orange) appearance, tenderness, induration, warmth, enlargement, and in some cases a palpable mass. The skin changes are the consequence of lymphatic obstruction from the underlying invasive breast adenocarcinoma. Microscopically, the dermal lymphatics show prominent infiltration by malignant cells. The invasive breast adenocarcinoma is usually of ductal, NOS type. There is not significant inflammatory cell infiltrate present, despite the name of this carcinoma." "" + "intermediate coronary syndrome" "Angina pectoris (or equivalent type of ischemic discomfort) which has recently changed in frequency, duration, intensity, or occurs at rest." "" + "intermediate uveitis" "Inflammation of the pars plana." "" + "intracranial embolism" "Blocking of a blood vessel in the skull by an embolus which can be a blood clot (thrombus) or other undissolved material in the blood stream. Most emboli are of cardiac origin and are associated with heart diseases. Other non-cardiac sources of emboli are usually associated with vascular diseases." "" + "intracranial hypotension" "Reduction of cerebrospinal fluid pressure characterized clinically by headache which is maximal in an upright posture and occasionally by an abducens nerve palsy (see abducens nerve diseases), neck stiffness, hearing loss (see deafness); nausea; and other symptoms. This condition may be spontaneous or secondary to spinal puncture; neurosurgical procedures; dehydration; uremia; trauma (see also craniocerebral trauma); and other processes. Chronic hypotension may be associated with subdural hematomas (see hematoma, subdural) or hygromas. (From Semin Neurol 1996 Mar;16(1):5-10; Adams et al., Principles of Neurology, 6th ed, pp637-8)" "" + "intracranial vasospasm" "Constriction of arteries in the skull due to sudden, sharp, and often persistent smooth muscle contraction in blood vessels. Intracranial vasospasm results in reduced vessel lumen caliber, restricted blood flow to the brain, and brain ischemia that may lead to hypoxic-ischemic brain injury (hypoxia-ischemia, brain)." "" + "intradermal nevus" "A nevus characterized by the proliferation of nevus cells in the dermis without involvement of the dermal-epidermal junction." "" + "obsolete keratoconjunctivitis sicca" "" "true" + "obsolete kernicterus" "" "true" + "kidney cortex necrosis" "Death of cells in the kidney cortex, a common final result of various renal injuries including hypoxia; ischemia; and drug toxicity." "" + "kidney papillary necrosis" "A complication of kidney diseases characterized by cell death involving kidney papilla in the kidney medulla. Damages to this area may hinder the kidney to concentrate urine resulting in polyuria. Sloughed off necrotic tissue may block kidney pelvis or ureter. Necrosis of multiple renal papillae can lead to kidney failure." "" + "obsolete Klatskin's tumor" "" "true" + "Klinefelter syndrome" "A sex chromosome disorder caused by the presence of an extra X chromosome in the male karyotype. Affected individuals are infertile and have a small penis and testes. They tend to have tall stature and long legs and may have difficulties with speech and language development. Gynecomastia may be present." "" + "X chromosome number anomaly" "" + "male infertility due to gonadal dysgenesis" "True" + "trisomy" "A chromosomal abnormality consisting of the presence of one chromosome in addition to the normal diploid number." "" + "Krebs 2 carcinoma" "Carcinoma having known association to krebs2 gene mutation" "" + "kuru" "A prion disease found exclusively among the Fore linguistic group natives of the highlands of new guinea. The illness is primarily restricted to adult females and children of both sexes. It is marked by the subacute onset of tremor and ataxia followed by motor weakness and incontinence. Death occurs within 3-6 months of disease onset. The condition is associated with ritual cannibalism, and has become rare since this practice has been discontinued. Pathologic features include a noninflammatory loss of neurons that is most prominent in the cerebellum, glial proliferation, and amyloid plaques. (From Adams et al., Principles of Neurology, 6th ed, p773)" "" + "miscellaneous movement disorder due to neurodegenerative disease" "True" + "human prion disease" "Prion diseases are a group of rare transmissible disorders characterized by progressive debilitating neurological manifestations due to spongiform changes with an invariably fatal course. The disorders all involve accumulation of an abnormal prion protein in the central nervous system with no specific immunological response. Sporadic Creutzfeldt-Jakob disease (CJD) is the most frequent form accounting for about 85% of prion disease cases. The other forms of prion disease are genetic (5-15%) and include inherited CJD, fatal familial insomnia (FFI), and Familial Alzheimer-like prion disease. Acquired forms (< 5%) include iatrogenic CJD and variant CJD (vCDJ)." "" + "kwashiorkor" "A syndrome produced by severe protein deficiency, characterized by retarded growth, changes in skin and hair pigment, edema, and pathologic changes in the liver, including fatty infiltration, necrosis, and fibrosis. The word is a local name in Gold Coast, Africa, meaning 'displaced child'. Although first reported from Africa, kwashiorkor is now known throughout the world, but mainly in the tropics and subtropics. It is considered to be related to marasmus. (From Dorland, 27th ed)" "" + "lateral medullary syndrome" "A syndrome caused by an infarct in the vertebral or posterior inferior cerebellar artery. It is characterized by sensory defects affecting the same side of the face as the infarct and the opposite side of the trunk as the infarct. Patients experience difficulty swallowing and/or speaking." "" + "nasal cavity and paranasal sinus lethal midline granuloma" "An aggressive, progressive, and destructive lesion affecting the nasal cavities, paranasal sinuses, and the palate. The vast majority of cases are malignant lymphoproliferations affecting the midline of the face in patients with nasal type extranodal NK/T-cell lymphoma." "" + "leukemoid reaction" "A hematology test result that indicates the presence of an increased white blood cell count and increased neutrophil precursors resembling leukemia, in a peripheral blood smear." "" + "leukoplakia of penis" "A precancerous condition characterized by the presence of abnormal whitish areas on the glans or prepuce of the penis. Risk factors include chronic irritation, inflammation, and infection of the penis, and poor genital hygiene." "" + "leukostasis" "A disorder involving the aberrant infiltration and aggregation of leukocytes into the vasculature of the body. Leukostasis is typically detected in the brain and lungs of persons with leukemia. It requires substantial ablative modalities to both reduce the number of cells present and to ensure dispersion of the aggregates." "" + "limited scleroderma" "The least progressive form of systemic scleroderma with skin thickening restricted to the face, neck and areas distal to the elbows and/or knees, sparing the trunk. The crest syndrome is a form of limited scleroderma." "" + "lingual goiter" "Pathological enlargement of the lingual thyroid, ectopic thyroid tissue at the base of the tongue. It may cause upper airway obstruction; dysphagia; or hypothyroidism symptoms." "" + "lip neoplasm" "A neoplasm (disease) that involves the lip." "" + "lipoid nephrosis" "A glomerular disorder characterized by the electron microscopic finding of loss of podocyte foot processes. Light microscopic examination does not show glomerular changes. Patients present with proteinuria and nephrotic syndrome." "" + "Listeria meningitis" "Inflammation of the meninges caused by listeria monocytogenes infection, usually occurring in individuals under the age of 3 years or over the age of 50 years. It may occur at any age in individuals with immunologic deficiency syndromes. Clinical manifestations include fever, altered mentation, headache, meningeal signs, focal neurologic signs, and seizures. (From Medicine 1998 Sep;77(5):313-36)" "" + "low tension glaucoma" "A form of glaucoma in which chronic optic nerve damage and loss of vision normally attributable to buildup of intraocular pressure occurs despite prevailing conditions of normal intraocular pressure." "" + "lupus vulgaris" "A form of cutaneous tuberculosis. It is seen predominantly in women and typically involves the nasal mucosa; buccal mucosa; and conjunctival mucosa." "" + "Lutembacher syndrome" "A condition characterized by a combination of ostium secundum atrial septal defect and an acquired mitral valve stenosis." "" + "lymphangiectasis" "Dilatation of the lymphatic vessels." "" + "lymphangioendothelioma" "A lymphangioma characterized by the presence of collagen bundle formation. It has an indolent clinical course and may be associated with skin plaques." "" + "lymphangiomyoma" "A neoplasm with perivascular epithelioid cell differentiation, often associated with tuberous sclerosis. It is characterized by the presence of smooth muscle and epithelioid cells and by the proliferation of lymphatic vessels. Sites of involvement include the lymph nodes, lung, mediastinum, and retroperitoneum." "" + "macular holes" "A hole in the macula of the retina." "" + "magnesium deficiency" "A nutritional condition produced by a deficiency of magnesium in the diet, characterized by anorexia, nausea, vomiting, lethargy, and weakness. Symptoms are paresthesias, muscle cramps, irritability, decreased attention span, and mental confusion, possibly requiring months to appear. Deficiency of body magnesium can exist even when serum values are normal. In addition, magnesium deficiency may be organ-selective, since certain tissues become deficient before others. (Harrison's Principles of Internal Medicine, 12th ed, p1936)" "" + "malignant lymphatic vessel tumor" "Neoplasms composed of lymphoid tissue, a lattice work of reticular tissue the interspaces of which contain lymphocytes. The concept does not refer to neoplasms located in lymphatic vessels." "" + "marasmus" "The lack of sufficient energy or protein to meet the body's metabolic demands, as a result of either an inadequate dietary intake of protein, intake of poor quality dietary protein, increased demands due to disease, or increased nutrient losses." "" + "meconium aspiration syndrome" "A serious condition in which a newborn breathes a mixture of meconium (the first intestinal discharge) and amniotic fluid into the lungs around the time of delivery. Meconium aspiration syndrome occurs in 5-10 percent of births and typically occurs when the infant is stressed, as when the infant is past its due date." "" + "neonatal aspiration syndrome" "Aspiration of meconium, blood, amniotic fluid or gastric contents around the time of delivery resulting in clinical symptoms from airway obstruction, parenchymal injury, and ventilation-perfusion mismatch. This may lead to persistent pulmonary hypertension in the newborn." "" + "obsolete meningococcal meningitis" "" "true" + "mesenteric vascular occlusion" "Obstruction of the flow in the splanchnic circulation by atherosclerosis; embolism; thrombosis; stenosis; trauma; and compression or intrinsic pressure from adjacent tumors. Rare causes are drugs, intestinal parasites, and vascular immunoinflammatory diseases such as periarteritis nodosa and thromboangiitis obliterans. (From Juergens et al., Peripheral Vascular Diseases, 5th ed, pp295-6)" "" + "middle cerebral artery infarction" "Necrosis occurring in the middle cerebral artery distribution system which brings blood to the entire lateral aspects of each cerebral hemisphere. Clinical signs include impaired cognition; aphasia; agraphia; weak and numbness in the face and arms, contralaterally or bilaterally depending on the infarction." "" + "obsolete mucoepidermoid tumor" "" "true" + "myofascial pain syndrome" "Muscular pain in numerous body regions that can be reproduced by pressure on trigger points, localized hardenings in skeletal muscle tissue. Pain is referred to a location distant from the trigger points. A prime example is the temporomandibular joint dysfunction syndrome." "" + "myxosarcoma" "An infiltrating malignant soft tissue neoplasm characterized by the presence of immature undifferentiated cells and abundant myxoid stroma formation." "" + "necrotizing sialometaplasia" "A benign, inflammatory, variably ulcerated, occasionally bilateral, self-healing lesion of the minor salivary glands that is often confused clinically and histologically with carcinoma." "" + "necrotizing ulcerative gingivitis" "A bacterial infectious process affecting the gums. It is characterized by the development of necrotic, ulcerated, and painful lesions with creation of pseudomembranes extending along the gingival margins." "" + "neonatal myasthenia gravis" "A disorder of neuromuscular transmission that occurs in a minority of newborns born to women with myasthenia gravis. Clinical features are usually present at birth or develop in the first 3 days of life and consist of hypotonia and impaired respiratory, suck, and swallowing abilities. This condition is associated with the passive transfer of acetylcholine receptor antibodies through the placenta. In the majority of infants the myasthenic weakness resolves (i.e., transient neonatal myasthenia gravis) although this disorder may rarely continue beyond the neonatal period (i.e., persistent neonatal myasthenia gravis). (From Menkes, Textbook of Child Neurology, 5th ed, p823; Neurology 1997 Jan;48(1):50-4)" "" + "myasthenia gravis" "Myasthenia gravis (MG) is a rare, clinically heterogeneous, autoimmune disorder of the neuromuscular junction characterized by fatigable weakness of voluntary muscles." "" + "obsolete neovascular glaucoma" "" "true" + "neurogenic bowel" "Loss or absence of normal intestinal function due to nerve damage or birth defects. It is characterized by the inability to control the elimination of stool from the body." "" + "obsolete noma" "" "true" + "non-gestational choriocarcinoma" "A highly malignant choriocarcinoma derived from the non-placental origin such as the totipotent cells in the testis, the ovary, and the pineal gland. It produces high levels of chorionic gonadotropin and can metastasize widely through the bloodstream to the lungs, brain, liver, bone, and other viscera by the time of diagnosis." "" + "obsolete nut allergic reaction" "Allergic reaction to tree nuts that is triggered by the immune system." "" "true" + "obstructive jaundice" "A finding indicating increased bilirubin levels in the blood and urine, due to intrahepatic or extrahepatic obstruction of the biliary system." "" + "ocular hypertension" "Abnormally high intraocular pressure." "" + "ocular tuberculosis" "Tuberculous infection of the eye, primarily the iris, ciliary body, and choroid." "" + "oral leukoedema" "A disorder of the buccal mucosa resembling early leukoplakia, characterized by the presence of filmy opalescence of the mucosa in the early stages to a whitish gray cast with a coarsely wrinkled surface in the later stages, associated with intracellular edema of the spinous or malpighian layer. (Dorland, 27th ed)" "" + "orbital cellulitis" "Inflammation of the eye tissues posterior to the orbital septum, and generally secondary to an infection spread from adjacent sinuses. Signs and symptoms of the affected eye include sudden loss of vision, erythema, edema, decreased eye movement, and pain. Treatment is conducted via intravenous antibiotics, observation, and surgical intervention when necessary." "" + "pulmonary sulcus neoplasm" "A neoplasm originating from the apical lung. Most superior sulcus neoplasms are bronchogenic carcinomas. This tumor may be associated with Pancoast syndrome. It is also known as Pancoast tumor." "" + "panophthalmitis" "Acute suppurative inflammation of the inner eye with necrosis of the sclera (and sometimes the cornea) and extension of the inflammation into the orbit. Pain may be severe and the globe may rupture. In endophthalmitis the globe does not rupture." "" + "" "true" + "panuveitis" "A disorder characterized by inflammation of the entire uvea which includes the iris, ciliary body, and choroid. Causes include systemic infections, sarcoidosis, and cancers." "" + "thyroid gland papillary and follicular carcinoma" "A thyroid neoplasm of mixed papillary and follicular arrangement. Its biological behavior and prognosis is the same as that of a papillary adenocarcinoma of the thyroid. (From DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1271)" "" + "parametritis" "Inflammation of the parametrium, the connective tissue of the pelvic floor, extending from the subserous coat of the uterus laterally between the layers of the broad ligament." "" + "paraneoplastic polyneuropathy" "A diffuse or multifocal peripheral neuropathy caused by the effects of a distant neoplasm. It may be attributed, in part, to the immune response to neoplasm-elaborated proteins. The neuropathy may be sensory, motor, mixed or autonomic. It may be the initial presentation of an occult neoplasm. Detection and resection of the neoplasm may result in cure." "" + "paraneoplastic syndrome" "A classification for rare disorders of diverse organ systems (endocrine, neuromuscular, gastrointestinal, renal, dermatologic, rheumatologic, hematologic) that are affected by substances secreted by a distant neoplasm but not by the action of the neoplasm itself metastasizing to that organ or tissue. Less than 1 % of neoplasms are associated with these syndromes. An immune-mediated response to neoplasm-elaborated proteins may be the cause of these syndromes. Additionally, their manifestation may signal the presence of an occult neoplasm, potentially at an earlier stage of disease thereby leading to a better clinical outcome. Constitutional signs may include fever, night sweats, anorexia and cachexia. Clinical course is usually progressive. Prognosis is variable depending on the effective treatment of the underlying neoplasm." "" + "paraneoplastic neurologic syndrome" "A paraneoplastic syndrome that involves the nervous system." "" + "paraphimosis" "A condition in which the foreskin of an uncircumcised male is retracted and cannot be pulled back over the glans penis. It results in painful swelling of the glans penis and, if is not corrected, may lead to gangrene." "" + "phimosis" "A condition in which there is constriction in the tip of the foreskin resulting in inability to fully retract the foreskin over the glans penis. Causes include balanoposthitis, balanitis xerotica obliterans, and untreated diabetes." "" + "benign neoplasm of parathyroid gland" "A benign neoplasm that involves the parathyroid gland." "" + "partial motor epilepsy" "A simple partial seizure consisting of clonus or spasm of a muscle or muscle group; it may be single or in a continuous and repetitive series or may spread to adjacent muscles." "" + "partial sensory epilepsy" "A disorder characterized by recurrent focal onset seizures which have sensory (i.e., olfactory, visual, tactile, gustatory, or auditory) manifestations. Partial seizures that feature alterations of consciousness are referred to as complex partial seizures (epilepsy, complex partial)." "" + "Pasteurella hemorrhagic septicemia" "Any of several bacterial diseases, usually caused by pasteurella multocida, marked by the presence of hemorrhagic areas in the subcutaneous tissues, serous membranes, muscles, lymph glands, and throughout the internal organs. The diseases primarily affect animals and rarely humans." "" + "Pasteurella multocida infectious disease" "" + "patellofemoral pain syndrome" "A syndrome characterized by retropatellar or peripatellar pain resulting from physical and biochemical changes in the patellofemoral joint. The pain is most prominent when ascending or descending stairs, squatting, or sitting with flexed knees. There is a lack of consensus on the etiology and treatment. The syndrome is often confused with (or accompanied by) chondromalacia patellae, the latter describing a pathological condition of the cartilage and not a syndrome." "" + "peptic esophagitis" "Inflammation of the esophagus that is caused by the reflux of gastric juice with contents of the stomach and duodenum." "" + "esophageal ulcer" "An ulcerated lesion in the esophageal wall." "" + "periapical granuloma" "Chronic nonsuppurative inflammation of periapical tissue resulting from irritation following pulp disease or endodontic treatment." "" + "periarthritis" "Inflammation of the tissues around a joint. (Dorland, 27th ed)" "" + "pericoronitis" "Inflammation of the gingiva surrounding the crown of a tooth." "" + "perinephritis" "Inflammation of the connective and adipose tissues surrounding the kidney." "" + "obsolete periventricular leukomalacia" "" "true" + "peroneal nerve paralysis" "Paralysis of the nerves located in the legs." "" + "pigmented spindle cell nevus" "A benign, small and slightly elevated brown or black skin lesion with usually well-demarcated borders. It is characterized by the presence of a melanocytic proliferation resulting in the formation of uniform cellular nests. Sometimes the clinical and morphologic features may be difficult to distinguish from melanoma." "" + "pilar sheath acanthoma" "A benign, small, papular or nodular skin neoplasm that usually arises above the upper lip. It is characterized by an epithelial proliferation with a central cavity. The cavity wall is lined with keratinocytes." "" + "pituitary apoplexy" "A rare, potentially life-threatening disorder caused by acute ischemic infarction or hemorrhage in the pituitary gland. It is most often associated with the presence of a pituitary gland adenoma. Signs and symptoms include headache, vomiting, visual disturbances, and endocrine dysfunction." "" + "acquired pituitary hormone deficiency" "An instance of hypopituitarism that is acquired during the lifetime of the individual." "" + "pituitary dwarfism" "Proportionately decreased bodily growth due to failure of the pituitary gland to produce an adequate supply of growth hormone." "" + "obsolete pituitary-dependent Cushing disease" "" "true" + "obsolete placental site trophoblastic tumor" "" "true" + "pneumatosis cystoides intestinalis" "The presence of gas within the wall of the large or small intestine." "" + "pneumococcal meningitis" "An acute purulent infection of the meninges and subarachnoid space caused by Streptococcus pneumoniae, most prevalent in children and adults over the age of 60. This illness may be associated with otitis media; mastoiditis; sinusitis; respiratory tract infections; sickle cell disease (anemia, sickle cell); skull fractures; and other disorders. Clinical manifestations include fever; headache; neck stiffness; and somnolence followed by seizures; focal neurologic deficits (notably deafness); and coma. (From Miller et al., Merritt's Textbook of Neurology, 9th ed, p111)" "" + "obsolete POEMS syndrome" "" "true" + "postcholecystectomy syndrome" "Abdominal symptoms after removal of the gallbladder. The common postoperative symptoms are often the same as those present before the operation, such as colic, bloating, nausea, and vomiting. There is pain on palpation of the right upper quadrant and sometimes jaundice. The term is often used, inaccurately, to describe such postoperative symptoms not due to gallbladder removal." "" + "posterior cerebral artery infarction" "Necrosis induced by ischemia in the posterior cerebral artery distribution system which supplies portions of the brain stem; the thalamus; temporal lobe, and occipital lobe. Depending on the size and location of infarction, clinical features include olfaction disorders and visual problems (agnosia; alexia; hemianopsia)." "" + "potassium deficiency" "A condition due to decreased dietary intake of potassium, as in starvation or failure to administer in intravenous solutions, or to gastrointestinal loss in diarrhea, chronic laxative abuse, vomiting, gastric suction, or bowel diversion. Severe potassium deficiency may produce muscular weakness and lead to paralysis and respiratory failure. Muscular malfunction may result in hypoventilation, paralytic ileus, hypotension, muscle twitches, tetany, and rhabomyolysis. Nephropathy from potassium deficit impairs the concentrating mechanism, producing polyuria and decreased maximal urinary concentrating ability with secondary polydipsia. (Merck Manual, 16th ed)" "" + "prediabetes syndrome" "A condition in which blood glucose levels are high, but not high enough to be classified as type 2 diabetes." "" + "Anaplasmataceae infectious disease" "Infections with bacteria of the family anaplasmataceae." "" + "proliferative vitreoretinopathy" "Vitreoretinal membrane shrinkage or contraction secondary to the proliferation of primarily retinal pigment epithelial cells and glial cells, particularly fibrous astrocytes, followed by membrane formation. The formation of fibrillar collagen and cellular proliferation appear to be the basis for the contractile properties of the epiretinal and vitreous membranes." "" + "CAPN5 vitreoretinopathy" "An autosomal dominant vitreoretinopathy caused by variants in the CAPN5 gene. Additional features, such as developmental delay and hypotonia, have been reported in some patients." "" + "Proteus infectious disease" "Infections with bacteria of the genus proteus." "" + "pseudobulbar palsy" "A condition affecting cranial nerves IX-XII resulting from upper motor neuron damage arising from a variety of causes." "" + "pulmonary coin lesion" "A single lung lesion that is characterized by a small round mass of tissue, usually less than 1 cm in diameter, and can be detected by chest radiography. A solitary pulmonary nodule can be associated with neoplasm, tuberculosis, cyst, or other anomalies in the lung, the chest wall, or the pleura." "" + "pulmonary edema" "Accumulation of fluid in the lung tissues causing disturbance of the gas exchange that may lead to respiratory failure. It is caused by direct injury to the lung parenchyma or congestive heart failure. The symptoms may appear suddenly or gradually. Suddenly appearing symptoms include difficulty breathing, feeling of suffocation, and coughing associated with frothy sputum. Gradually appearing symptoms include difficulty breathing while lying in bed, shortness of breath during activity, and weight gain (in patients with congestive heart failure)." "" + "pulmonary plasma cell granuloma" "A tumor-like inflammatory lesion of the lung that is composed of plasma cells and fibrous tissue. It is also known as an inflammatory pseudotumor, often with calcification and measuring between 2 and 5 cm in diameter." "" + "" "true" + "pulmonary subvalvular stenosis" "The obstruction of the right ventricular outflow tract that originates within the body of the right ventricle, that exists at the time of birth; it often occurs in association with other intracardiac anomalies." "" + "pulmonary valve stenosis" "The pathologic narrowing of the orifice of the pulmonary valve. This lesion restricts blood outflow from the right ventricle to the pulmonary artery. When the trileaflet valve is fused into an imperforate membrane, the blockage is complete." "" + "pulpitis" "Inflammation of the dental pulp." "" + "radial nerve lesion" "A peripheral nerve lesion that involves the radial nerve." "" + "rat-bite fever" "An infectious disease that is caused transmitted by the bite of a rat. Two species of bacteria can cause the infection: Streptobacillus moniliformis and Spirillum minus." "" + "obsolete reflex epilepsy" "" "true" + "obsolete relapsing polychondritis" "" "true" + "renal aminoaciduria" "A group of inherited kidney disorders characterized by the abnormally elevated levels of amino acids in urine. Genetic mutations of transport proteins result in the defective reabsorption of free amino acids at the proximal renal tubules. Renal aminoaciduria are classified by the specific amino acid or acids involved." "" + "renal artery obstruction" "Narrowing or occlusion of the renal artery or arteries. It is due usually to atherosclerosis; fibromuscular dysplasia; thrombosis; embolism, or external pressure. The reduced renal perfusion can lead to renovascular hypertension (hypertension, renovascular)." "" + "renal osteodystrophy" "Abnormalities of bone mineral metabolism associated with chronic kidney disease." "" + "renovascular hypertension" "High blood pressure secondary to renal artery stenosis." "" + "retinal drusen" "Colloid or hyaline bodies lying beneath the retinal pigment epithelium. They may occur either secondary to changes in the choroid that affect the pigment epithelium or as an autosomal dominant disorder of the retinal pigment epithelium." "" + "retinal vasculitis" "Inflammation of the retinal vasculature with various causes including infectious disease; lupus erythematosus, systemic; multiple sclerosis; behcet syndrome; and chorioretinitis." "" + "retinopathy of prematurity" "A bilateral retinopathy characterized by neovascularization, scarring, retinal detachment, and eventually blindness. It may be mild or severe. It occurs in babies born prematurely. Causes include oxygen toxicity and hypoxia." "" + "Rh isoimmunization" "The mother develops antibodies against red blood cell Rhesus antigens. This may lead to potential fetal adverse outcomes such as anemia." "" + "obsolete rheumatic fever" "" "true" + "root caries" "Dental caries involving the tooth root, cementum, or cervical area of the tooth." "" + "obsolete SAPHO syndrome" "" "true" + "obsolete Schnitzler syndrome" "" "true" + "scrapie" "A fatal disease of the nervous system in sheep and goats, characterized by pruritus, debility, and locomotor incoordination. It is caused by proteinaceous infectious particles called prions." "" + "sebaceous gland cancer" "A cancer that involves the sebaceous gland." "" + "secondary hypertrophic osteoarthropathy" "Symmetrical osteitis of the four limbs, chiefly localized to the phalanges and the terminal epiphyses of the long bones of the forearm and leg, sometimes extending to the proximal ends of the limbs and the flat bones, and accompanied by dorsal kyphosis and joint involvement. It is often secondary to chronic conditions of the lungs and heart. (Dorland, 27th ed)" "" + "obsolete septic abortion" "" "true" + "shoulder impingement syndrome" "Compression of the rotator cuff tendons and subacromial bursa between the humeral head and structures that make up the coracoacromial arch and the humeral tuberosities. This condition is associated with subacromial bursitis and rotator cuff (largely supraspinatus) and bicipital tendon inflammation, with or without degenerative changes in the tendon. Pain that is most severe when the arm is abducted in an arc between 40 and 120 degrees, sometimes associated with tears in the rotator cuff, is the chief symptom. (From Jablonski's Dictionary of Syndromes and Eponymic Diseases, 2d ed)" "" + "sialolithiasis" "A concretion in the salivary gland." "" + "silo filler disease" "A form of alveolitis or pneumonitis caused by hypersensitivity to high level of inhaled nitrogen oxides, decomposition products of silage." "" + "somatostatinoma" "A rare, usually malignant neuroendocrine tumor arizing from delta cells. This neoplasm produces large amounts of somatostatin, which may result in a syndrome characterized by diarrhea, steatorrhea, weight loss, and gastric hyposecretion. Sixty percent are found in the pancreas and 40% in the duodenum or jejunum. The peak incidence occurs between 40 and 60 years of age; women are affected more than men by 2:1." "" + "spermatocele" "A benign testicular cyst that is located in the epididymis, and which contains serous fluid, lymphocytes, spermatozoa, and debris." "" + "splenic infarction" "Insufficiency of arterial or venous blood supply to the spleen due to emboli, thrombi, vascular torsion, or pressure that produces a macroscopic area of necrosis. (From Stedman, 25th ed)" "" + "steatitis" "A disease of cats and mink characterized by a marked inflammation of adipose tissue and the deposition of 'ceroid' pigment in the interstices of the adipose cells. It is believed to be caused by feeding diets containing too much unsaturated fatty acid and too little vitamin E. (Merck Veterinary Manual, 5th ed; Stedman, 25th ed)" "" + "subacute bacterial endocarditis" "Subacute inflammation of the endocardium. Streptococcus viridans is the usual etiologic agent of subacute bacterial endocarditis. The distinction between \"acute\" and \"subacute\" endocarditis has traditionally been made based on the pathogenic organism and clinical presentation." "" + "subacute thyroiditis" "Self-limited inflammation of the thyroid gland characterized by the presence of multinucleated giant cells. Patients present with neck pain, often associated with fever and dysphagia. The clinical course includes an initial phase of hyperthyroidism, followed by a phase of hypothyroidism, and eventually a return to normal thyroid function." "" + "subclavian steal syndrome" "An uncommon neurovascular condition seen with exertion of the upper extremity. It is usually caused by atherosclerotic stenosis or occlusion of the subclavian artery proximal to the origin of the vertebral artery. In order to maintain adequate perfusion of the arm during exercise on the affected side, the narrowed subclavian artery siphons off retrograde blood flow from the ipsilateral vertebral artery. This is possible due to lower blood pressure distal to the site of narrowing and collateral circulation through the circle of Willis. Affected individuals may remain asymptomatic until the oxygen demand generated from upper extremity exercise requires a large enough compensatory volume of blood to be diverted from the vertebral artery to provoke vertebrobasilar insufficiency and its accompanying neurological sequelae. Presenting clinical signs may include pain or numbness of the affected arm (with diminished pulses and a brachial systolic blood pressure differential of greater than 20 mmHg as compared to the opposite arm), vertigo, tinnitus, dysarthria, diplopia and syncope. Notably, unlike cerebral infarction, the clinical course does not lead to chronic neurologic disability. Prognosis for recovery of normal anterograde circulation is favorable following endovascular or surgical intervention." "" + "subdural empyema" "An intracranial or rarely intraspinal suppurative process invading the space between the inner surface of the dura mater and the outer surface of the arachnoid." "" + "obsolete subependymoma" "" "true" + "substernal goiter" "An enlarged thyroid gland with at least 50% of the gland situated behind the sternum. It is an unusual presentation of an intrathoracic goiter. Substernal goiters frequently cause compression on the trachea leading to deviation, narrowing, and respiratory symptoms." "" + "sulfhemoglobinemia" "A morbid condition due to the presence of sulfmethemoglobin in the blood. It is marked by persistent cyanosis, but the blood count does not reveal any special abnormality in the blood. It is thought to be caused by the action of hydrogen sulfide absorbed from the intestine. (Stedman, 25th ed)" "" + "suppurative periapical periodontitis" "Localized collection of pus in the tissues that enclose the root of a tooth." "" + "suppurative uveitis" "Intraocular infection caused mainly by pus-producing bacteria and rarely by fungi. The infection may be caused by an injury or surgical wound (exogenous) or by endogenous septic emboli in such diseases as bacterial endocarditis or meningococcemia." "" + "obsolete sympathetic ophthalmia" "" "true" + "syphilitic aortitis" "Cardiovascular manifestations of syphilis, an infection of treponema pallidum. In the late stage of syphilis, sometimes 20-30 years after the initial infection, damages are often seen in the blood vessels including the aorta and the aortic valve. Clinical signs include syphilitic aortitis, aortic insufficiency, or aortic aneurysm." "" + "systolic heart failure" "Heart failure caused by abnormal myocardial contraction during systole leading to defective cardiac emptying." "" + "tarsal tunnel syndrome" "Tarsal tunnel syndrome is a nerve disorder that is characterized by pain in the ankle, foot, and toes. This condition is caused by compression of the posterior tibial nerve, which runs through a canal near the heel into the sole of the foot. When tissues around this nerve become inflamed, they can press on the nerve and cause the pain associated with tarsal tunnel syndrome." "" + "tibial neuropathy" "Disease of the tibial nerve (also referred to as the posterior tibial nerve). The most commonly associated condition is the tarsal tunnel syndrome. However, leg injuries; ischemia; and inflammatory conditions (e.g., collagen diseases) may also affect the nerve. Clinical features include paralysis of plantar flexion, ankle inversion and toe flexion as well as loss of sensation over the sole of the foot. (From Joynt, Clinical Neurology, 1995, Ch51, p32)" "" + "tethered spinal cord syndrome" "A progressive neurological disorder characterized by the limitation of movement of the spinal cord within the spine. It is caused by the presence of congenital or acquired tissue attachments in the spinal cord. Signs and symptoms include low back pain, scoliosis, weakness in the legs, and incontinence." "" + "thyroid crisis" "Acute onset of severe, life-threatening hyperthyroidism caused by a sudden release of excessive thyroid hormone." "" + "tonsil neoplasm" "A neoplasm (disease) that involves the tonsil." "" + "tricuspid valve prolapse" "Abnormal protrusion of one or more of the leaflets of tricuspid valve into the right atrium during systole. This allows the backflow of blood into right atrium leading to tricuspid valve insufficiency; systolic murmurs. Its most common cause is not primary valve abnormality but rather the dilation of the right ventricle and the tricuspid annulus." "" + "congenital tricuspid malformation" "" + "obsolete twin-to-twin transfusion syndrome" "" "true" + "ulcerative proctosigmoiditis" "Inflammation of the rectum and the distal portion of the colon." "" + "Ureaplasma urethritis" "Infections with bacteria of the genus ureaplasma." "" + "ureterolithiasis" "The presence of a calculus in the ureter of the kidney; this is most often composed of mineral salts and proteins." "" + "obsolete uveitis" "" "true" + "uveoparotid fever" "A manifestation of sarcoidosis marked by chronic inflammation of the parotid gland and the uvea." "" + "variant Creutzfeldt-Jakob disease" "A form of Creutzfeldt-Jakob disease that is most commonly contracted after consuming meat from an animal suffering from bovine spongiform encephalopathy." "" + "acquired Creutzfeldt-Jakob disease" "An instance of Creutzfeldt Jacob disease that is acquired during the lifetime of the individual." "" + "vasculogenic impotence" "Inability to achieve and maintain an erection (erectile dysfunction) due to defects in the arterial blood flow to the penis, defect in venous occlusive function allowing blood drainage (leakage) from the erectile tissue (corpus cavernosum penis), or both." "" + "vibrio infectious disease" "Infections with bacteria of the genus vibrio." "" + "vitamin A deficiency" "Deficiency of vitamin A due to malnutrition, malabsorption, or dietary lack. It is manifested with reduced night vision, night blindness, and xerophthalmia." "" + "vitreous detachment" "Detachment of the vitreous humor from the retina." "" + "inherited vitreoretinopathy" "" + "vulvitis" "Inflammation of the vulva. It is characterized by pruritus and painful urination." "" + "Wernicke encephalopathy" "An acute neurological disorder characterized by the triad of ophthalmoplegia, ataxia, and disturbances of mental activity or consciousness. Eye movement abnormalities include nystagmus, external rectus palsies, and reduced conjugate gaze. thiamine deficiency and chronic alcoholism are associated conditions. Pathologic features include periventricular petechial hemorrhages and neuropil breakdown in the diencephalon and brainstem. Chronic thiamine deficiency may lead to korsakoff syndrome. (Adams et al., Principles of Neurology, 6th ed, pp1139-42; Davis & Robertson, Textbook of Neuropathology, 2nd ed, pp452-3)" "" + "obsolete wheat allergic disease" "Allergic reaction to wheat that is triggered by the immune system." "" "true" + "xanthogranulomatous pyelonephritis" "Chronic, destructive infection of the kidney characterized by lipid-laden macrophages in the setting of obstruction secondary to infected renal stones, most commonly caused by Proteus or Escherichia coli." "" + "Yersinia infectious disease" "Infections with bacteria of the genus yersinia." "" + "Yersinia pseudotuberculosis infectious disease" "Infections with bacteria of the species yersinia pseudotuberculosis." "" + "chancre" "The primary sore of syphilis, a painless indurated, eroded papule, occurring at the site of entry of the infection." "" + "obsolete non-alcoholic fatty liver" "" "true" + "non-alcoholic steatohepatitis" "Fatty replacement and damage to the hepatocytes not related to alcohol use. It may lead to cirrhosis and liver failure." "" + "non-alcoholic fatty liver disease" "A term referring to fatty replacement of the hepatic parenchyma which is not related to alcohol use." "" + "rotator cuff syndrome" "Tear of one or more of the tendons of the four rotator cuff muscles of the shoulder. A rotator cuff 'injury' can include any type of irritation or overuse of those muscles or tendons, and is among the most common conditions affecting the shoulder." "" + "branchio-oto-renal syndrome" "A syndrome characterized by branchial arch anomalies (branchial clefts, fistulae, cysts), hearing impairment (malformations of the auricle with pre-auricular pits, conductive or sensorineural hearing impairment), and renal malformations (urinary tree malformation, renal hypoplasia or agenesis, renal dysplasia, renal cysts)." "" + "otomandibular dysplasia associated with monogenic syndromes" "True" + "syndromic urogenital tract malformation" "A urogenital tract malformation that is part of a larger syndrome." "" + "syndrome or malformation associated with head and neck malformations" "True" + "autosomal dominant Aarskog syndrome" "" + "faciodigitogenital syndrome" "A rare developmental disorder characterized by facial, limbs and genital features, and a disproportionate acromelic short stature. This includes X-linked, AR and AD forms of Aarskog syndrome." "" + "familial abdominal aortic aneurysm" "An instance of abdominal aortic aneurysm that is caused by an inherited modification of the individual's genome." "" + "prune belly syndrome" "Prune belly syndrome is a rare congenital disorder, belonging to the group of fetal lower urinary tract obstructions (LUTO), involving variable dilation of the lower urinary tract in association with partial or complete absence of the lateral and inferior abdominal wall musculature and in males bilateral non-palpable undescended testes." "" + "fetal lower urinary tract obstruction" "" + "abducens nerve palsy" "Paralysis of the abducens nerve." "" + "Adams-Oliver syndrome" "Adams-Oliver Syndrome (AOS) is a rare disorder characterized by the combination of congenital limb abnormalities and scalp defects, often accompanied by skull ossification defects." "" + "syndrome with limb reduction defects" "True" + "mixed dermis disorder" "" + "acanthosis nigricans" "A melanotic cutaneous lesion that develops in the axilla and other body folds. It may be idiopathic, drug-induced, or it may be associated with the presence of an endocrine disorder or malignancy." "" + "skin pigmentation disease" "A pigmentation disease that involves the zone of skin." "" + "Achard syndrome" "A rare genetic syndrome featuring connective tissue abnormalities. Clinical signs include brachycephaly, arachnodactyly, receding mandible and joint laxity at the hands and feet." "" + "achondroplasia" "Achondroplasia is the most common form of chondrodysplasia, characterized by rhizomelia, exaggerated lumbar lordosis, brachydactyly, and macrocephaly with frontal bossing and midface hypoplasia." "" + "FGFR3-related chondrodysplasia" "" + "primary bone dysplasia with micromelia" "True" + "Achoo syndrome" "" + "neurofibromatosis type 2" "A tumor-prone disorder characterized by the development of multiple schwannomas and meningiomas." "" + "neurofibromatosis" "A hereditary neoplastic syndrome in which tumors grow in the nervous system. There are typically 3 main types recognized, but other forms with uncertain etiology exist." "" + "Sakati-Nyhan syndrome" "An acrocephalosyndactylia characterized by abnormalities in the bones of the legs, congenital heart defects and craniofacial defects and craniosynostosis. The patients suffer from cyanosis and other respiratory and breathing infections." "" + "apert syndrome" "Apert syndrome (AS) is a frequent form of acrocephalosyndactyly, a group of inherited congenital malformation disorders, characterized by craniosynostosis, midface hypoplasia, and finger and toe anomalies and/or syndactyly." "" + "Saethre-Chotzen syndrome" "Saethre-Chotzen syndrome (SCS) is an inherited craniosynostosis syndrome characterized by unilateral or bilateral coronal synostosis, facial asymmetry, ptosis, strabismus and small ears with prominent crus, among other less common manifestations." "" + "Pfeiffer syndrome" "Pfeiffer syndrome (PS) is a common form of acrocephalosyndactyly, a group of inherited congenital malformation disorders, characterized by variable degrees of bicoronal craniosynostosis, variable hand and foot malformations and various other associated manifestations." "" + "acrodysostosis 1 with or without hormone resistance" "An autosomal dominant skeletal dysplasia caused by mutation(s) in the PRKAR1A gene, encoding cAMP-dependent protein kinase type I-alpha regulatory subunit. It is characterized by short stature, brachydactyly, and characteristic facial features. Resistance to multiple hormones is a common finding." "" + "acrodysostosis with multiple hormone resistance" "" + "acrodysostosis" "Acrodysostosis (ACRDYS) is a rare primary bone dysplasia characterized by severe brachydactyly, peripheral dysostosis with facial dysostosis, nasal hypoplasia, and developmental delay." "" + "acrofacial dysostosis, Catania type" "Acrofacialdysostosis, Catania type is a very rare type of acrofacialdysostosis characterized by mild intrauterine growth retardation (IUGR), postnatal short stature, microcephaly, widow's peak, mandibulofacial dysostosis without cleft palate, frequent caries, mild pre- and postaxial limb hypoplasia with brachydactyly, mild interdigital webbing, simian creases, inguinal hernia and cryptorchidism and hypospadias in males." "" + "acrofacial dysostosis" "" + "hereditary papulotranslucent acrokeratoderma" "A keratosis of the hands and feet characterized by persistent, asymptomatic, yellowish to white papules and plaques associated with fine-textured scalp hair and an atopic diathesis." "" + "punctate palmoplantar keratoderma type III" "Acrokeratoelastoidosis of Costa is a rare dermatosis characterized by small, firm papules or plaques (resembling warts) on the sides of the hands and feet. These stationary and asymptomatic lesions appear generally at puberty, or sometimes later" "" + "marginal papular palmoplantar keratoderma" "" + "acrokeratoderma" "" + "dermis elastic tissue disorder" "" + "acquired dermis elastic tissue disorder with increased elastic tissue" "True" + "acrokeratosis verruciformis" "A rare genetic skin keratinization disorder with an autosomal dominant mode of inheritance. It is characterized by numerous flesh-colored warty papules on the back of the hands, medial aspect of the feet, knees, and elbows." "" + "acroleukopathy, symmetric" "" + "acromegaloid changes, cutis verticis gyrata, and corneal leukoma" "" + "acromegaloid facial appearance syndrome" "Acromegaloid facial appearance (AFA) syndrome is a multiple congenital anomalies/dysmorphic syndrome with a probable autosomal dominant inheritance, characterized by a progressively coarse acromegaloid-like facial appearance with thickening of the lips and intraoral mucosa, large and doughy hands and, in some cases, developmental delay. AFA syndrome appears to be part of a phenotypic spectrum that includes hypertrichotic osteochondrodysplasia, Cantu type and hypertrichosis-acromegaloid facial appearance syndrome." "" + "genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome" "An instance of multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome that is caused by an inherited modification of the individual's genome." "" + "growth hormone secreting pituitary adenoma 1" "" + "familial isolated pituitary adenoma" "" + "restless legs syndrome 1" "" + "acromial dimples" "" + "acromicric dysplasia" "Acromicric dysplasia is a rare bone dysplasia characterized by short stature, short hands and feet, mild facial dysmorphism, and characteristic X-ray abnormalities of the hands." "" + "acroosteolysis" "A condition that is characterized by degeneration of the distal phalanges." "" + "primary osteolysis" "" + "acroosteolysis dominant type" "Acroosteolysis dominant type (AOD) is a rare genetic osteolysis syndrome characterized by acroosteolysis of distal phalanges and generalized osteoporosis, associated with additional ossification anomalies, craniofacial dysmorphism, dental anomalies and a wide range of other characteristics." "" + "acropectorovertebral dysplasia" "Acropectorovertebral dysplasia is a skeletal dysplasia characterized by fusion of the carpal and tarsal bones, with complex anomalies of the fingers and toes (preaxial polydactyly of the hands and/or feet, syndactyly of fingers and toes, hypoplasia and dysgenesis of metatarsal bones)." "" + "thoracic malformation" "" + "syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy" "True" + "acrorenal syndrome" "Acrorenal syndrome comprises a wide spectrum of congenital malformative disorders characterized by the co-occurrence of distal limb anomalies (usually bilateral cleft feet and/or hands) and renal defects (e.g. unilateral or bilateral agenesis), that can be associated with a variety of other anomalies such as those of genitourinary tract (genital anomalies, ureteral hypoplasias, vesicoureteral reflux), abdominal well defects, intestinal atresias, and lung malformations. Familial cases have been reported in which an autosomal recessive inheritance was suspected." "" + "spermatogenic failure 6" "Any azoospermia in which the cause of the disease is a mutation in the SPATA16 gene." "" + "male infertility due to globozoospermia" "Male infertility due to globozoospermia is a male infertility due to sperm disorder characterized by the presence, in sperm, of a large majority of round-headed spermatozoa that lack the acrosome and have an aberrant nuclear membrane and midpiece defects. The acrosomeless spermatozoa is not able to penetrate the zona pellucida and thus fertilization failures, even with intracytoplasmic spem injection, are frequent." "" + "acylase, cobalt-activated" "" + "congenital absence/hypoplasia of fingers excluding thumb, unilateral" "Unilateral adactylia is a terminal transverse defect of the hand characterized by the absence of the terminal portions of digits 2 to 5 with a hypoplastic thumb (adactylia)." "" + "congenital absence/hypoplasia of fingers excluding thumb" "" + "obsolete long bone adamantinoma" "A adamantinoma that involves the long bone." "" "true" + "adenosine deaminase deficiency" "A form of SCID characterized by profound lymphopenia and very low immunoglobulin levels of all isotypes resulting in severe and recurrent opportunistic infections." "" + "T-B- severe combined immunodeficiency" "T-B- severe combined immunodeficiency (SCID) is a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T and B lymphocytes, resulting in recurrent early-onset severe respiratory viral, bacterial or fungal infections, diarrhea and failure to thrive. Hypersensitivity to ionizing radiation is a characteristic feature of some of its sub-types." "" + "inborn disorder of purine metabolism" "An acquired metabolic disease that is has its basis in the disruption of purine nucleobase metabolic process." "" + "obsolete adenosine deaminase, elevated, hemolytic anemia due to" "" "true" + "adenosine triphosphatase deficiency, anemia due to" "" + "pyruvate kinase hyperactivity" "Autosomal dominant phenotype characterized by increase of red blood cell ATP." "" + "pyruvate metabolism disorder" "An acquired metabolic disease that is has its basis in the disruption of pyruvate metabolic process." "" + "adenylosuccinate lyase deficiency" "Adenylosuccinate lyase deficiency (ADSL deficiency) is a disorder of purine metabolism characterized by intellectual disability, psychomotor delay and/or regression, seizures, and autistic features." "" + "obsolete Adie syndrome" "" "true" + "adiposis dolorosa" "Adiposis dolorosa or Dercum's disease is characterised by the development of multiple, painful, subcutaneous lipomas in association with obesity, asthenia and fatigue, and range of mental disturbances including instability, depression, confusion, dementia and epilepsy." "" + "adrenocortical hypofunction, chronic primary congenital" "" + "Addison disease" "A chronic and rare endocrine disorder due to autoimmune destruction of the adrenal cortex and resulting in a glucocorticoid and mineralocorticoid deficiency. Properly speaking AD designates autoimmune adrenalitis, but it is a term commonly used to describe any form of chronic primary adrenal insufficiency (CPAI)." "True" + "ADULT syndrome" "ADULT (Acro-dermo-ungual-lacrimal-tooth) syndrome is a rare ectodermal dysplasia syndrome characterized by ectrodactyly, syndactyly, mammary hypoplasia, and excessive freckling as well as other typical ectodermal defects such as hypodontia, lacrimal duct anomalies, hypotrichosis, and onychodysplasia." "" + "EEC syndrome and related syndrome" "" + "hypoglossia-hypodactyly syndrome" "Hanhart syndrome is a rare condition that primarily affects the craniofacial region and the limbs (arms and legs). People affected by this condition are often born with a short, incompletely developed tongue; absent or partially missing fingers and/or toes; abnormalities of the arms and/or legs; and an extremely small jaw. The severity of these physical abnormalities varies greatly among affected people, and children with this condition often have some, but not all, of the symptoms. The cause of Hanhart syndrome is not fully understood. Treatment depends on the signs and symptoms present in each person." "" + "oromandibular-limb hypogenesis syndrome" "Oromandibular-limb hypogenesis syndromes (OLHS) are a group of dysmorphic complexes (including Charlie M syndrome, Hanhart syndrome and glossopalatine ankylosis) characterized by the association of severe asymmetric limb defects (primarily involving distal segments) and abnormalities of the oral cavity and mandible (hypoglossia, aglossia, micrognathia, glossopalatine ankylosis, cleft palate, and gingival anomalies)." "" + "ainhum" "Spontaneous autoamputation of a digit, usually the fifth toe. It results from the formation of a fibrotic band which constricts the full radius of the digit and eventually causes the spontaneous autoamputation." "" + "alacrima, congenital, autosomal dominant" "" + "isolated congenital alacrima" "Congenital alacrima is characterised by deficient lacrimation (ranging from a complete absence of tears to hyposecretion of tears) that is present from birth." "" + "obsolete ocular albinism with sensorineural deafness" "" "true" + "Tietz syndrome" "Tietz syndrome is a genetic hypopigmentation and deafness syndrome characterized by congenital profound bilateral sensorineural hearing loss and generalized albino-like hypopigmentation of skin, eyes and hair." "" + "hypopigmentation of the skin" "A condition caused by a deficiency or a loss of melanin pigmentation in the epidermis, also known as hypomelanosis. Hypopigmentation can be localized or generalized, and may result from genetic defects, trauma, inflammation, or infections." "" + "pigmentation disorder with eye involvement, excluding albinism" "True" + "pseudohypoparathyroidism type 1A" "Pseudohypoparathyroidism type 1A (PHP1a) is a type of pseudohypoparathyroidism (PHP) characterized by renal resistance to parathyroid hormone (PTH), resulting in hypocalcemia, hyperphosphatemia, and elevated PTH; resistance to other hormones including thydroid stimulating hormone (TSH), gonadotropins and growth-hormone-releasing hormone (GHRH); and a constellation of clinical features known as Albright hereditary osteodystrophy (AHO)." "" + "syndromic genetic obesity" "" + "pseudohypoparathyroidism" "Pseudohypoparathyroidism (PHP) is a heterogeneous group of endocrine disorders characterized by normal renal function and resistance to the action of parathyroid hormone (PTH), manifesting with hypocalcemia, hyperphosphatemia and elevated PTH levels and that includes the subtypes PHP type 1a (PHP-1a), PHP type 1b (PHP-1b), PHP type 1c (PHP-1c), PHP type 2 (PHP-2) and pseudopseudohypoparathyroidism (PPHP)." "" + "musculoskeletal disease with cataract" "True" + "alcohol dependence" "Physical and psychological dependence on alcohol." "" + "glucocorticoid-remediable aldosteronism" "Familial hyperaldosteronism type I (FH-I) is a rare heritable, glucocorticoid remediable form of primary aldosteronism (PA) characterized by early-onset hypertension, hyperaldosteronism, variable hypokalemia, low plasma renin activity (PRA), and abnormal production of 18-oxocortisol and 18-hydroxycortisol." "" + "familial hyperaldosteronism" "Familial hyperaldosteronism (FH) is the heritable form of primary aldosteronism (PA) which comprises three identified subtypes to date: FH type I (FH-I) characterized by early-onset hypertension, glucocorticoid remediable adrenocorticotropic hormone (ACTH)-dependent hyperaldosteronism, variable hypokalemia, and overproduction of 18-oxocortisol and 18-hydroxycortisol; FH type II (FH-II) characterized by hypertension of varying severity and hyperaldosteronism not suppressible by dexamethasone; and FH type III (FH-III) characterized by profound hypokalemia, early-onset severe hypertension, non glucocorticoid-remediable hyperaldosteronism, and overproduction of 18-oxocortisol and 18-hydroxycortisol." "" + "obsolete allergic bronchopulmonary aspergillosis" "" "true" + "alopecia areata 1" "" + "autosomal dominant palmoplantar keratoderma and congenital alopecia" "Autosomal dominant palmoplantar keratoderma with congenital alopecia (PPK-CA) is a rare genetic skin disorder characterized by absence of scalp and body hair and palmoplantar keratoderma, without other hand complications." "" + "diffuse palmoplantar keratoderma" "" + "ectodermal dysplasia syndrome" "The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures." "" + "familial focal alopecia" "" + "alopecia-epilepsy-pyorrhea-intellectual disability syndrome" "Alopecia-epilepsy-pyorrhea-intellectual disability syndrome is characterized by congenital permanent alopecia universalis, intellectual disability, psychomotor epilepsy and periodontitis (pyorrhea). Total permanent alopecia and pyorrhea are invariably concomitant while intellectual disability and psychomotor epilepsy are observed in most patients. No other abnormality of nails or skin (apart from absence of hair) has been reported. Transmission is autosomal dominant." "" + "autosomal dominant Alport syndrome" "Autosomal dominant Alport syndrome isa genetic condition characterized by kidney disease, hearing loss, and eye abnormalities. Most affected individuals experience progressive loss of kidney function, usually resulting in end-stage kidney disease. People with Alport syndrome frequently develop sensorineural hearing loss in late childhood or early adolescence. The eye abnormalities seen in this condition seldom lead to vision loss. Alport syndrome can have different patterns of inheritance.Alport syndrome has autosomal dominant inheritance in about 5 percent of cases. People with this form of Alport syndrome have one mutation in either the COL4A3 or COL4A4 gene in each cell." "" + "Alport syndrome" "A genetic syndrome usually inherited as an X-link trait. It is caused by abnormalities in the COL4A5 gene. It affects males more often than females and is characterized by hematuria, progressive renal insufficiency, hearing loss, and ocular abnormalities." "" + "alternating hemiplegia of childhood 1" "Any alternating hemiplegia of childhood in which the cause of the disease is a mutation in the ATP1A2 gene." "" + "alternating hemiplegia of childhood" "A rare neurodevelopmental disorder characterized by recurrent episodes of hemiplegia and paroxysmal disturbances associated with persistent developmental delay and cognitive impairment." "" + "Alzheimer disease type 1" "" + "early-onset autosomal dominant Alzheimer disease" "Early-onset autosomal dominant Alzheimer disease (EOAD) is a progressive dementia with reduction of cognitive functions. EOAD presents the same phenotype as sporadic Alzheimer disease (AD) but has an early age of onset, usually before 60 years old." "" + "Alzheimer disease 2" "An Alzheimer's disease that is characterized by an association of the apolipoprotein E E4 allele." "True" + "genetic dementia" "Genetic dementia." "" + "amastia, bilateral, with ureteral triplication and dysmorphism" "" + "amelia and terminal transverse hemimelia" "" + "amelogenesis imperfecta type 1B" "Any amelogenesis imperfecta in which the cause of the disease is a mutation in the ENAM gene." "" + "amelogenesis imperfecta" "Amelogenesis imperfecta (AI) represents a group of developmental conditions affecting the structure and clinical appearance of the enamel of all or nearly all the teeth in a more or less equal manner, and which may be associated with morphologic or biochemical changes elsewhere in the body." "" + "amelogenesis imperfecta type 1" "" + "hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism" "Any amelogenesis imperfecta in which the cause of the disease is a mutation in the DLX3 gene." "" + "amelogenesis imperfecta type 1A" "Any amelogenesis imperfecta in which the cause of the disease is a mutation in the LAMB3 gene." "" + "ameloonychohypohidrotic syndrome" "" + "amenorrhea-galactorrhea syndrome" "" + "Finnish type amyloidosis" "" + "syndromic corneal dystrophy" "A corneal dystrophy (disease) that is part of a larger syndrome." "" + "ACys amyloidosis" "Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Icelandic type is a form of HCHWA characterized by an age of onset of 20-30 years, systemic amyloidosis and recurrent lobar intracerebral hemorrhages." "" + "familial visceral amyloidosis" "" + "familial amyloid neuropathy" "Familial amyloid polyneuropathy (FAP) or transthyretin (TTR) amyloid polyneuropathy is a progressive sensorimotor and autonomic neuropathy of adulthood onset. Weight loss and cardiac involvement are frequent; ocular or renal complications may also occur." "" + "hereditary ATTR amyloidosis" "" + "familial primary localized cutaneous amyloidosis" "" + "primary cutaneous amyloidosis" "Cutaneous amyloidosis refers to a variety of skin diseases characterized histologically by the extracellular accumulation of amyloid deposits in the dermis. Rare forms include lichen amyloidosus, X-linked reticulate pigmentary disorder, primary localized cutaneous nodular amyloidosis, and macular amyloidosis." "" + "amyotrophic dystonic paraplegia" "" + "amyotrophic lateral sclerosis type 1" "" + "amyotrophic lateral sclerosis-parkinsonism-dementia complex" "" + "frontotemporal dementia and/or amyotrophic lateral sclerosis 1" "Any frontotemporal dementia with motor neuron disease in which the cause of the disease is a mutation in the C9orf72 gene." "" + "frontotemporal dementia with motor neuron disease" "Frontotemporal dementia with motor neuron disease (FTD-MND) is a type of frontotemporal lobar degeneration characterized by the insidious onset (between the ages of 38-78 years) of dementia-associated psychiatric symptoms (e.g. personality changes, uninhibited behavior, irritability, aggressiveness), memory difficulties, global intellectual impairment, emotional disorders and transcortical motor aphasia that eventually leads to mutism, in addition to the manifestations of motor neuron disease such as neurogenic muscular wasting (similar to what is seen in amyotrophic lateral sclerosis). The disease is progressive, with death occurring 2-5 years after onset." "" + "frontotemporal dementia and/or amyotrophic lateral sclerosis" "" + "anal sphincter dysplasia" "" + "anal sphincter myopathy, internal" "" + "epithelial tumor of anal canal" "A epithelial neoplasm that involves the anal canal." "" + "congenital dyserythropoietic anemia type 3" "Congenital dyserythropoietic anemia type III (CDA III) is a rare form of CDA characterized by dyserythropoiesis, with big multinucleated erythroblasts in the bone marrow, and manifesting with mild to moderate anemia." "" + "congenital dyserythropoietic anemia" "Congenital dyserythropoietic anemia (CDA) is a heterogenous group of hematological disorders of late erythropoiesis and red cell abnormalities that lead to anemia. Five types of CDA are defined: CDA I, CDA II, CDA III, CDA IV and thrombocytopenia with CDA." "" + "Diamond-Blackfan anemia 1" "Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS19 gene." "" + "Diamond-Blackfan anemia" "A congenital aregenerative and often macrocytic anemia with erythroblastopenia." "" + "aneurysm, intracranial berry type 1" "" + "intracranial berry aneurysm" "An intracranial aneurysm with a characteristic rounded shape; the most common form of cerebral aneurysm." "" + "interventricular septum aneurysm" "Interventricular septum aneurysm is a rare, non-syndromic, congenital heart malformation characterized by the presence of a congenital aneurysm of the membranous portion of the interventricular septum. Patients may be asymptomatic or may present with ventricular or supraventricular tachycardia, fatigue, exertional dyspnea, palpitations, and cardiac murmur. Ventricular septal defects and conduction defects, such as first-degree atrio-ventricular block or incomplete right bundle branch block, may also be also associated." "" + "congenital anomaly of ventricular septum" "A congenital heart malformation that involves the interventricular septum." "" + "Angelman syndrome" "Angelman syndrome (AS) is a neurogenetic disorder characterized by severe intellectual deficit and distinct facial dysmorphic features." "" + "angel-shaped phalango-epiphyseal dysplasia" "Angel-shaped phalango-epiphyseal dysplasia (ASPED) is a form of acromelic dysplasia characterized by the distinctive radiological sign of angel-shaped middle phalanges, a typical metacarpophalangeal pattern profile (mainly affecting first metacarpals and middle phalanges of second, third and fifth digits, which all appear short), epiphyseal changes in the hips and, in some, abnormal dentition and delayed bone age." "" + "angioma serpiginosum, autosomal dominant" "" + "angioma serpiginosum" "Angioma serpiginosum (AS) is a benign congenital skin disease characterised by progressive dilation of the subepidermal skin vessels manifesting as purple punctate lesions usually appearing on the lower limbs and buttocks and following the lines of Blaschko." "" + "hereditary neurocutaneous angioma" "Hereditary neurocutaneous angioma is characterised by the association of cerebral and cutaneous angiomatous lesions. It has been described in less than 10 families. Clinical manifestations of the cerebral lesions include epilepsy, cerebral haemorrhage, and focal neurological deficit. Transmission is autosomal dominant." "" + "neurovascular malformation" "" + "cerebral diseases of vascular origin with epilepsy" "True" + "malformation syndrome with hamartosis" "True" + "obsolete angioedema, hereditary, type 1/2" "" "true" + "isolated anhidrosis with normal sweat glands" "Any anhidrosis in which the cause of the disease is a mutation in the ITPR2 gene." "" + "isolated aniridia" "Isolated aniridia is a congenital bilateral ocular malformation characterized by the complete or partial absence of the iris." "" + "aniridia" "Aniridia is a congenital ocular malformation characterized by the complete or partial absence of the iris. It can be isolated or part of a syndrome (isolated and syndromic aniridia)." "" + "aniridia-absent patella syndrome" "Aniridia-absent patella is a syndrome described in three members of a family (a boy, his father, and his paternal grandmother) that is characterized by the association of aniridia with patella aplasia or hypoplasia. The grandmother also had bilateral cataracts and glaucoma. There have been no further descriptions in the literature since 1975." "" + "syndromic aniridia" "A aniridia that is part of a larger syndrome." "" + "aniridia, microcornea, and spontaneously Reabsorbed cataract" "" + "anisocoria" "Unequal pupil size, which may represent a benign physiologic variant or a manifestation of disease. Pathologic anisocoria reflects an abnormality in the musculature of the iris (iris diseases) or in the parasympathetic or sympathetic pathways that innervate the pupil. Physiologic anisocoria refers to an asymmetry of pupil diameter, usually less than 2mm, that is not associated with disease." "" + "ankyloblepharon filiforme adnatum-cleft palate syndrome" "" + "syndromic ankyloblepharon" "" + "ankyloblepharon-ectodermal defects-cleft lip/palate syndrome" "Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome is an ectodermal dysplasia syndrome with defining features of ankyloblepharon filiforme adnatum (AFA), ectodermal abnormalities and a cleft lip and/or palate." "" + "ankyloglossia" "A developmental abnormality in which the bottom of the tongue is attached to the floor of the mouth." "" + "spondyloarthropathy, susceptibility to, 1" "Any spondyloarthropathy, susceptibility to in which the cause of the disease is a mutation in the HLA-B gene." "" + "spondyloarthropathy, susceptibility to" "" + "diffuse idiopathic skeletal hyperostosis" "This syndrome is characterized by the association of ankylosing vertebral hyperostosis with hyperkeratosis of the soles and palms." "" + "annular erythema" "" + "tooth agenesis, selective, 1" "Any tooth agenesis in which the cause of the disease is a mutation in the MSX1 gene." "" + "congenital total pulmonary venous return anomaly" "Total pulmonary venous return (TAPVR) is a form of congenital pulmonary venous return where all of the pulmonary veins drain into the right atrium or one of its tributaries, instead of the left atrium, leading to various manifestations such as fatigue, exertional dyspnea, pulmonary arterial hypertension, cyanosis and progressive congestive heart failure." "" + "congenital pulmonary venous return anomaly" "Congenital pulmonary venous return anomaly is a cardiac malformation where some or all of the pulmonary veins drain into the right atrium or the systemic veins, with or without the presence of pulmonary venous obstruction, leading to various manifestations such as fatigue, exertional dyspnea, pulmonary arterial hypertension, cyanosis and progressive congestive heart failure. The two main subtypes are congenital partial pulmonary venous return anomaly (PAPVC), where one or a few of the pulmonary veins are anomalous, and congenital total pulmonary venous return anomaly (TAPVC), where all of the pulmonary veins are anomalous." "" + "anonychia with flexural pigmentation" "Anonychia with flexural pigmentation is characterised by anonychia and skin abnormalities (hyper- and hypopigmentation in axillae and groins, dry palmar and plantar skin leading to sore and cracked soles). It has been described in a mother and her two children. The mode of transmission is autosomal dominant." "" + "syndromic nail anomaly" "A nail anomaly that is part of a larger syndrome." "" + "anonychia-ectrodactyly" "" + "anonychia-onychodystrophy with brachydactyly type b and ectrodactyly" "" + "Cooks syndrome" "Cooks syndrome is a malformation syndrome affecting the apical structures of digits and presenting with hypo/aplasia of nails and distal phalanges. More than half of digits are usually involved and the thumbs may appear digitalized." "" + "syndrome with brachydactyly" "Brachydactyly ('short digits') is a general term that refers to disproportionately short fingers and toes, and forms part of the group of limb malformations characterized by bone dysostosis." "True" + "nonsyndromic congenital nail disorder 6" "" + "isolated congenital anonychia" "Isolated congenital anonychia is characterized by nail abnormalities ranging from onychodystrophy (dystrophic nails) to anonychia (absence of nails). Onychodystrophy-anonychia has been described in at least four generations of a family with male-to-male transmission, suggesting autosomal dominant transmission. Anonychia has been described in approximately less than 20 cases; it is likely to be transmitted as an autosomal recessive trait. Total anonychia congenita, in which all the fingernails and toenails are absent, may have an autosomal dominant inheritance pattern." "" + "anonychia-onychodystrophy syndrome" "" + "genetic anorectal anomalies" "" + "isolated congenital anosmia" "This syndrome is characterised by total or partial anosmia at birth. So far, 15 patients have been described. The anosmia is caused by a defect in the development of the olfactory bulbs or by replacement of the olfactory epithelium by respiratory epithelium. The mode of transmission appears to be autosomal dominant with incomplete penetrance. Isolated congenital anosmia is found in some parents of individuals with Kallman syndrome." "" + "anosmia" "Loss of or impaired ability to smell. This may be caused by olfactory nerve diseases; paranasal sinus diseases; viral respiratory tract infections; craniocerebral trauma; smoking; and other conditions." "" + "anterior segment dysgenesis 1" "" + "anterior segment dysgenesis" "A spectrum of developmental anomalies that affect the development of the anterior segment of the eyeball resulting from abnormalities of neural crest migration and differentiation during embryologic development (Axenfeld-Rieger syndrome, Peters anomaly, posterior keratoconus, and iridoschisis)." "" + "Antipyrine metabolism" "" + "obsolete antiphospholipid syndrome" "" "true" + "antiviral state repressor, regulator of" "" + "Townes-Brocks syndrome" "Townes-Brocks syndrome (TBS) is a rare genetic disorder characterized by the triad of imperforate anus, dysplastic ears often associated with sensorineural and/or conductive hearing impairment, and thumb malformations. These features are often associated with other signs mainly affecting the kidneys and heart." "" + "syndromic anorectal malformation" "A anorectal malformation that is part of a larger syndrome." "" + "aortic arch anomaly-facial dysmorphism-intellectual disability syndrome" "Aortic arch anomaly-peculiar facies-intellectual disability syndrome is a developmental anomaly characterized at birth by the presence of right-sided aortic arch, craniofacial dysmorphism (microcephaly, asymmetric, facial bones, broad forehead, borderline hypertelorism, nasal septum deviation, large nasal cavity, large, posteriorly rotated ears, and microstomia with downturned corners), and intellectual disability. These features were observed in 4 members of one family, involving 2 successive generations, suggesting an autosomal dominant mode of transmission. There have been no further descriptions in the literature since 1968." "" + "aortic arch interruption, facial palsy, and retinal coloboma" "" + "aplasia cutis congenita" "Aplasia cutis congenita (ACC) is a rare skin disorder characterized by localized absence of skin that is usually located on the scalp but can occur anywhere on the body including the face, trunk and extremities. ACC may occasionally be associated with other anomalies." "" + "obsolete apnea, central sleep" "" "true" + "obstructive sleep apnea syndrome" "Cessation of air flow during sleep due to upper airway obstruction." "" + "appendicitis, proneness to" "" + "obsolete arbitrary restriction polymorphism 1" "" "true" + "arcus senilis" "A corneal disease in which there is a deposition of phospholipid and cholesterol in the corneal stroma and anterior sclera." "" + "arms, malformation of" "" + "arrhythmogenic right ventricular dysplasia 1" "Any arrhythmogenic right ventricular cardiomyopathy in which the cause of the disease is a mutation in the TGFB3 gene." "" + "familial isolated arrhythmogenic ventricular dysplasia, left dominant form" "" + "familial isolated arrhythmogenic ventricular dysplasia, biventricular form" "" + "familial isolated arrhythmogenic ventricular dysplasia, right dominant form" "" + "arteries, anomalies of" "" + "arteriovenous malformations of the brain" "Cerebral arteriovenous malformation (AVM) is a congenital malformative communication between the veins and the arteries in the brain in the form of a nidus, an anatomical structure composed of dilated and tangled supplying arterioles and drainage veins with no intervening capillary bed, that can be asymptomatic or cause, depending on the location and the size of the AVM, headaches of varying severity, generalized or focal seizures, focalneurological defects (weakness, numbness, speech difficulties, vision loss) or potentially fatal intracranial hemorrhage in case the AVM ruptures." "" + "genetic vascular anomaly" "An instance of vascular anomaly that is caused by a modification of the individual's genome." "" + "arteritis, familial granulomatous, with juvenile polyarthritis" "" + "arthritis, sacroiliac" "" + "arthrogryposis, distal, type 1A" "" + "digitotalar dysmorphism" "Digitotalar dysmorphism, also known as distal arthrogryposis type 1 (DA1), is an autosomal dominant congenital anomaly characterized by contractures of the distal regions of the hands and feet with no facial involvement or any additional anomalies. It is the most common type of distal arthrogryposis." "" + "arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome" "Distal arthrogryposis type 5 is an inherited developmental defect syndrome characterized by multiple congenital contractures of limbs, without primary neurologic and/or muscle disease that affects limb function, and ocular anomalies (ptosis, external ophtalmoplegia and/or strabismus). Intelligence is normal." "" + "distal arthrogryposis" "A muscle tissue disease characterized by congenital joint contractures of hand and feet." "" + "arthrogryposis-like hand anomaly-sensorineural deafness syndrome" "Arthrogryposis-like hand anomaly-sensorineural deafness syndrome is characterized by an arthrogryposis-like hand anomaly and sensorineural deafness. It has been described in only one family. Male-to-male transmission was observed." "" + "Stickler syndrome type 1" "" + "Stickler syndrome" "Stickler syndrome is an inherited vitreoretinopathy characterized by the association of ocular signs with more or less complete forms of Pierre-Robin sequence, bone disorders, and sensorineural deafness (10% of cases)." "" + "type 2 collagenopathy" "Any disease or disorder in which the cause of the disease is a mutation in the COL2A1 gene." "" + "spermatogenic failure 2" "" + "male infertility with azoospermia or oligozoospermia due to single gene mutation" "Male infertility with azoospermia or oligospermia due to single gene mutation is a rare, genetic male infertility due to sperm disorder characterized by the absence of a measurable amount of spermatozoa in the ejaculate (azoospermia), or a number of sperm in the ejaculate inferior to 15 million/mL (oligozoospermia), resulting from a mutation in a single gene known to cause azoo- or oligo-spermia. Sperm morphology may be normal." "" + "asymmetric short stature syndrome" "" + "episodic ataxia type 2" "Episodic ataxia type 2 (EA2) is the most frequent form of Hereditary episodic ataxia (EA) characterized by paroxysmal episodes of ataxia lasting hours, with interictal nystagmus and mildly progressive ataxia." "" + "hereditary episodic ataxia" "Hereditary episodic ataxia (EA) represents a group of neurological disorders characterized by recurrent episodes of ataxia and vertigo which may be progressive. Weakness, dystonia and ataxia are sometimes present in the interictal period. Seven types of EA have been described to date (EA type 1 to EA type 7), but most of the reported cases belong to EA1 and EA2." "" + "spastic ataxia 1" "Any autosomal dominant spastic ataxia in which the cause of the disease is a mutation in the VAMP1 gene." "" + "autosomal dominant spastic ataxia" "Autosomal dominant form of spastic ataxia." "" + "spastic ataxia 7" "Spastic ataxia with congenital miosis is a rare hereditary ataxia characterized by an apparently non-progressive or slowly progressive symmetrical ataxia of gait, pyramidal signs in the limbs, spasticity and hyperreflexia (especially in the lower limbs) together with dysarthria and impaired pupillary reaction to light, presenting as a fixed miosis (with pupils that seldom exceed 2 mm in diameter and dilate poorly with mydriatics). Nystagmus may also be present." "" + "ataxia with fasciculations" "" + "hereditary ataxia" "An instance of an atactic disorder that is caused by an inherited genomic modification in an individual." "" + "atelosteogenesis type I" "Atelosteogenesis I is a perinatally lethal skeletal dysplasia characterized by severe short-limbed dwarfism, joint dislocations, club feet along with distinctive facies and radiographic findings." "" + "filamin-related bone disorder" "" + "primary bone dysplasia with multiple joint dislocations" "True" + "atelosteogenesis type III" "Atelosteogenesis III (AOIII) is a skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings." "" + "atherosclerosis susceptibility" "" + "atresia of external auditory canal and conductive deafness" "" + "external auditory canal aplasia/hypoplasia" "" + "atrial standstill 1" "Any atrial standstill in which the cause of the disease is a mutation in the GJA5 gene." "" + "atrial standstill" "Atrial standstill is a rare cardiac rhythm disease with a few familial and sporadic cases described to date that is characterized by a transient or permanent absence of electrical and mechanical atrial activity. Electrocardiographic findings include bradycardia, ectopic supraventricular rhythms, lack of atrial excitability and absent P waves." "" + "atrial septal defect 1" "An atrial heart septal defect type 1 associated with variation in the region 5p." "" + "atrial septal defect 7" "Atrial septal defect (ASD) with atrioventricular conduction defects is an extremely rare genetic congenital heart disease characterized by the presence of ASD, mostly of the ostium secundum type, associated with conduction anomalies like atrioventricular block, atrial fibrillation or right bundle branch block." "" + "Lown-Ganong-Levine syndrome" "Lown-Ganong-Levine syndrome is an extremely rare conduction disorder characterized by a short PR interval (less than or equal to 120 ms) with normal QRS complex on electrocardiogram associated with the occurrence of episodes of atrial tachyarrythmias (e.g. atrial fibrillation, atrial tachycardia)." "" + "PR interval, variation 1N" "" + "helicoid peripapillary chorioretinal degeneration" "Helicoid peripapillary chorioretinal degeneration is a rare autosomal dominantly inherited chorioretinal degeneration disease, presenting at birth or infancy, characterized by progressive bilateral retinal and choroidal atrophy, appearing as lesions on the optic nerve and peripheral ocular fundus and leading to central vision loss. Congenital anterior polar cataracts are sometimes associated with this disease." "" + "auriculoosteodysplasia" "Auriculoosteodysplasia is a very rare condition characterized by multiple osseous dysplasia, characteristic ear shape (elongation of the lobe that is attached and accompanied by a small, slightly posterior lobule) and somewhat short stature." "" + "aurocephalosyndactyly" "" + "Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities" "" + "axial osteomalacia" "" + "familial osteosclerosis" "An instance of osteosclerosis that is caused by an inherited modification of the individual's genome." "" + "Machado-Joseph disease" "Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease, is the most common subtype of type 1 autosomal dominant cerebellar ataxia (ADCA type 1), a neurodegenerative disorder, and is characterized by ataxia, external progressive ophthalmoplegia, and other neurological manifestations." "" + "autosomal dominant cerebellar ataxia type I" "Autosomal dominant cerebellar ataxia (ADCA) type I is a group of spinocerebellar ataxias (SCAs) characterized by ataxia with other neurological signs, including oculomotor disturbances, cognitive deficits, pyramidal and extrapyramidal dysfunction, bulbar, spinal and peripheral nervous system involvement." "" + "azotemia, familial" "" + "alopecia, androgenetic, 1" "" + "Banki syndrome" "Banki syndrome is a synostosis syndrome, reported in a single Hungarian family in which members of 3 generations showed lunotriquetral synostosis, clinodactyly, clinometacarpy, brachymetacarpy and leptometacarpy (thin diaphysis). It appeared to be a unique dominant mutation. There have been no further descriptions in the literature since 1965." "" + "syndrome with synostosis or other joint formation defect" "True" + "nevoid basal cell carcinoma syndrome" "A rare hereditary disorder due to autosomal dominant transmission with hamartosis characterized by multiple early-onset basal cell carcinoma (BCC), multiple jaw keratocysts and skeletal abnormalities." "" + "inherited nervous system cancer-predisposing syndrome" "" + "malignant tumor of palpebral epidermis" "A cancer that involves the skin of eyelid." "" + "primary basilar invagination" "Primary basilar impression (PBI) is a very rare skeletal developmental defect characterized by congenital upward translocation of the upper cervical spine and clivus into the foramen magnum. PBI can be asymptomatic or associated with severe neurological dysfunction." "" + "obsolete B-cell growth factor" "" "true" + "leukemia, chronic lymphocytic, susceptibility to, 2" "" + "Behcet disease" "A chronic, relapsing, multisystemic vasculitis characterized by mucocutaneous lesions, as well as articular, vascular, ocular and central nervous system manifestations." "" + "skin vascular disease" "A disease that involves the superficial vasculature." "" + "predominantly large-vessel vasculitis" "" + "inflammatory and autoimmune disease with epilepsy" "True" + "obsolete systemic diseases with anterior uveitis" "" "true" + "obsolete systemic diseases with posterior uveitis" "" "true" + "obsolete systemic diseases with panuveitis" "" "true" + "autoinflammatory syndrome with skin involvement" "True" + "obsolete unclassified autoinflammatory syndrome" "" "true" + "beta-amino acids, renal transport of" "" + "primary biliary cholangitis 1" "" + "familial bicuspid aortic valve" "Familial bicuspid aortic valve is a rare, genetic, aortic malformation defined as a presence of abnormal two-leaflet aortic valve in at least 2 first-degree relatives. It is frequently asymptomatic or may be associated with progressive aortic valve disease (aortic regurgitation and/or aortic stenosis, typically due to valve calcification) and a concomitant aortopathy (i.e. aortic dilation, aortic aneurysm and/or dissection)." "" + "rare disease with thoracic aortic aneurysm and aortic dissection" "True" + "aortic malformation" "" + "bifid nose, autosomal dominant" "" + "obsolete bladder cancer" "" "true" + "Ascher syndrome" "Ascher syndrome is a very rare syndrome characterized by a combination of blepharochalasis, double lip, and non-toxic thyroid enlargement (seen in 10-50% of cases), although the occurrence of all three signs at presentation is uncommon. Hypertrophy of the mucosal zone of the lip with persistence of the horizontal sulcus between cutaneous and mucosal zones gives an appearance of double lip, with the upper lip being frequently involved. Blepharochalasis, or episodic edema of eyelid, appears around puberty, is present in 80% of cases, is usually bilateral, and can rarely lead to vision impairment and other ocular complications. Most cases are sporadic, but familial cases (with a possible autosomal dominant inheritance) have also been reported." "" + "blepharochalasis, superior" "" + "blepharonasofacial malformation syndrome" "Blepharonasofacial syndrome is a rare otorhinolaryngological malformation syndrome characterized by a distinctive mask-like facial dysmorphism, lacrimal duct obstruction, extrapyramidal features, digital malformations and intellectual disability." "" + "blepharophimosis, ptosis, and epicanthus inversus syndrome" "Blepharophimosis, Ptosis, and Epicanthus Inversus syndrome (BPES) is an ophthalmic disorder characterized by blepharophimosis, ptosis, epicanthus inversus, and telecanthus, that can appear associated with (type I) or without premature ovarian failure (POF) (type II)." "" + "telecanthus" "" + "inherited primary ovarian failure" "An instance of primary ovarian failure that is caused by an inherited modification of the individual's genome." "" + "blepharoptosis-myopia-ectopia lentis syndrome" "This syndrome is characterised by bilateral congenital blepharoptosis, ectopia lentis and high myopia." "" + "lens position anomaly" "Partial or complete displacement of the crystalline lens from its normal position in the eye." "" + "blue rubber bleb nevus" "Blue rubber bleb nevus (BRBNS) is a rare vascular malformation disorder with cutaneous and visceral lesions frequently associated with serious, potentially fatal bleeding and anemia." "" + "Cole-Carpenter syndrome 1" "Any Cole-Carpenter syndrome in which the cause of the disease is a mutation in the P4HB gene." "" + "Cole-Carpenter syndrome" "Cole-Carpenter syndrome is an extremely rare form of bone dysplasia characterized by the features of osteogenesis imperfecta such as bone fragility associated with multiple fractures, bone deformities (metaphyseal irregularities and bowing of the long bones) and blue sclera, in association with growth failure, craniosynostosis, hydrocephalus, ocular proptosis, and distinctive facial features (e.g. frontal bossing, midface hypoplasia, and micrognathia)." "" + "diaphyseal medullary stenosis-bone malignancy syndrome" "Diaphyseal medullary stenosis with malignant fibrous histiocytoma is a very rare autosomal dominant bone dysplasia/cancer syndrome characterized clinically by bone infarctions, cortical growth abnormalities, pathological fractures, and development of bone sarcoma (malignant fibrous histiocytoma)." "" + "primary bone dysplasia" "" + "primary bone dysplasia with increased bone density" "True" + "bone pain, periodic" "" + "Böök syndrome" "Book syndrome is a rare autosomal dominant ectodermal dysplasia syndrome reported in a Swedish family (25 cases from 4 generations), and one isolated case, and is characterized by premolar aplasia, hyperhidrosis, and premature graying of the hair. Additional features reported in the isolated case include a narrow palate, hypoplastic nails, eyebrow anomalies, a unilateral simian crease, and poorly formed dermatoglyphics." "" + "Boomerang dysplasia" "Boomerang dysplasia (BD) is a rare lethal skeletal dysplasia characterized by severe short-limbed dwarfism, dislocated joints, club feet, distinctive facies and diagnostic x-ray findings of underossified and dysplastic long tubular bones, with a boomerang-like bowing." "" + "Weismann-Netter syndrome" "Weismann-Netter syndrome is a rare, genetic, primary, bent bone dysplasia characterized by anterior diaphyseal bowing of the tibia and fibula, broadening of the fibula, posterior cortical thickening of both bones and short stature. Additional skeletal abnormalities include scoliosis with marked lumbar lordosis, horizontal sacrum and square iliac wings and/or, less frequently, vertebral malformations, abnormal shape of the clavicles and ribs, calvarial hyperostosis and delayed eruption of permanent teeth. Delayed ambulation is also frequently associated." "" + "bent bone dysplasia" "" + "Brachmann-de Lange-like facial changes with microcephaly, metatarsus adductus, and developmental delay" "" + "brachydactyly-arterial hypertension syndrome" "Brachydactyly - arterial hypertension is a rare genetic brachydactyly syndrome characterized by the association of brachydactyly type E with hypertension (due to vascular or neurovascular anomalies) as well as the additional features of short stature and low birth weight (compared to non-affected family members), stocky build and a round face. The onset of hypertension is often in childhood and, if untreated, most patients will have had a stroke by the age of 50." "" + "brachydactyly-long thumb syndrome" "Brachydactyly - long thumb syndrome is a very rare autosomal dominant heart-hand syndrome that is characterized by bisymmetric brachydactyly accompanied by long thumbs, joint anomalies (restriction of motion at the shoulder and metacarpophalangeal joints) and cardiac conduction defects. Additional features include small hands and feet, clinodactyly, narrow shoulders with short clavicles, pectus excavatum and mild shortness of the limbs, cardiomegaly and murmur of pulmonic stenosis.It has been described in four family members from three generations, with no new cases having been reported since 1981." "" + "heart-hand syndrome" "Heart-hand syndrome refers to a group of congenital disorders characterized by malformations of the upper limbs and heart. To date, heart-hand syndrome comprises the following rare syndromes; Holt-Oram syndrome; heart-hand syndrome type 2; heart-hand syndrome type 3; heart hand syndrome, Slovenian type, brachydactyly-long thumb; and patent ductus arteriosus-bicuspid aortic valve - hand anomalies." "" + "Ballard syndrome" "Ballard syndrome is characterized by hypoplasia of the distal phalanges of the ulnar side of the hand and shortening of one or more metacarpals. In contrast to brachydactyly type E, patients with Ballard syndrome have normal stature." "" + "brachydactyly-preaxial hallux varus syndrome" "Preaxial brachydactyly-hallux varus syndrome is characterized the association of hallux varus with short thumbs and first toes (involving the metacarpals, metatarsals, and distal phalanges; the proximal and middle phalanges are of normal length) and abduction of the affected digits." "" + "brachydactyly type A1" "Brachydactyly type A1 (BDA1) is a congenital malformation characterized by apparent shortness (or absence) of the middle phalanges of all digits, and occasional fusion with the terminal phalanges." "" + "brachydactyly type A2" "Brachydactyly type A2 (BDA2) is a congenital malformation characterized by shortening (hypoplasia or aplasia) of the middle phalanges of the index finger and, sometimes, of the little finger." "" + "brachydactyly type A3" "" + "brachydactyly type A4" "Brachydactyly type A4 (BDA4) is a congenital malformation characterized by brachymesophalangy affecting mainly the 2nd and the 5th digit." "" + "brachydactyly type A6" "Brachydactyly A6 (BDA6) is characterized by brachymesophalangy with mesomelic short limbs, and carpal and tarsal bone abnormalities. In general, the affected individuals are of slightly short stature and normal intelligence. The syndrome has been described in a kindred with seven affected members from three generations. Transmission appears to be autosomal dominant." "" + "acromesomelic dysplasia" "Acromesomelic dysplasia describes a group of extremely rare, inherited, progressive skeletal conditions that result in a particular form of short stature, called short-limb dwarfism. The short stature is the result of unusually short forearms and forelegs (mesomelia) and abnormal shortening of the bones in the hands and feet (acromelia). At birth, the hands and feet may appear abnormally short and broad. Over time, the apparent disproportion becomes even more obvious, especially during the first years of life. Additional features may include: limited extension of the elbows and arms; progressive abnormal curvature of the spine; an enlarged head; and a slightly flattened midface. Acromesomelic dysplasia is inherited as an autosomal recessive trait. There are different types of acromesomelic dysplasia, which are distinguished by their genetic cause. To read more about the different types, click on the links below. Acromesomelic dysplasia, Maroteaux type Acromesomelic dysplasia, Hunter-Thompson type Acromesomelic dysplasia, Grebe type" "" + "brachydactyly type B1" "Any brachydactyly type B in which the cause of the disease is a mutation in the ROR2 gene." "" + "brachydactyly type B" "A condition characterized by incomplete development (hypoplasia) or absence of the outermost bones of the fingers and toes (distal phalanges) and nails. Additional features may include hypoplasia of the middle phalanges, fusion of the joints (symphalangism), broad thumbs, and webbed fingers (syndactyly). The feet are often less severely affected than the hands. There are 2 types of this condition, designated as type 1 and 2. BDB type 1 is caused by mutations in the ROR2 gene. BDB type 2 is caused by mutations in the NOG gene. Inheritance of both types is autosomal dominant. Treatment may include surgery if the condition affects hand function, or for cosmetic reasons." "" + "brachydactyly type C" "" + "brachydactyly type D" "A brachydactyly characterized by short and broad terminal phalanges of the thumbs and big toes that has material basis in mutation in the HOXD13 gene on chromosome 2q31.1." "" + "brachydactyly type E1" "Any brachydactyly type E in which the cause of the disease is a mutation in the HOXD13 gene." "" + "brachydactyly type E" "Brachydactyly type E (BDE) is a congenital malformation of the digits characterized by variable shortening of the metacarpals with more or less normal length phalanges, although the terminal phalanges are often short." "" + "brachydactyly, type E, with atrial septal defect, type 2" "" + "fibular aplasia-ectrodactyly syndrome" "Fibular aplasia-ectrodactyly syndrome is characterized by fibular aplasia and ectrodactyly. Less than 50 familial and sporadic cases have been reported in the literature. Shortening of the femur, a curved tibia, severe foot anomalies and pathologies of the hip, knee and ankle may also be present. The disorder is probably inherited as an autosomal dominant trait, with reduced penetrance, especially in females." "" + "congenital limb malformation" "" + "brachydactyly-nystagmus-cerebellar ataxia syndrome" "Brachydactyly-nystagmus-cerebellar ataxia syndrome is characterized by brachydactyly, nystagmus and cerebellar ataxia. Intellectual deficit and strabismus are also reported in some patients." "" + "Sillence syndrome" "Sillence syndrome (brachydactyly-symphalangism syndrome) resembles type A1 brachydactyly (variable shortening of the middle phalanges of all digits) with associated symphalangism (producing a distal phalanx with the shape of a chess pawn). Scoliosis, clubfoot and tall stature are also characteristic." "" + "brachymesomelia-renal syndrome" "" + "Brachymetatarsus 4" "" + "Brachymorphism-onychodysplasia-dysphalangism syndrome" "Brachymorphism-onychodysplasia-dysphalangism (BOD) is a very rare malformation syndrome that is characterized by short stature, hypoplastic fifth digits with tiny dysplastic nails, facial dysmorphism with coarse features including a wide mouth and broad nose, and mild intellectual disability. It has been suggested that Coffin-Siris syndrome and BOD syndrome are perhaps allelic variants." "" + "brachytelephalangy-dysmorphism-Kallmann syndrome" "Brachytelephalangy - dysmorphism - Kallmann syndrome is a developmental anomaly characterized by brachytelephalangy, distinct craniofacial features (prominent square forehead, telecanthus, small nose, malar hypoplasia, smooth philtrum and thin upper lip), and relative to other family members, a short stature. These features may be associated with anosmia and hypogonadotropic hypogonadism (considered as Kallman syndrome). Brachytelephalangy - dysmorphism - Kallmann syndrome has been described in a mother and her son and there have been no further descriptions in the literature since 1986." "" + "congenital hypogonadotropic hypogonadism" "Congenital hypogonadotropic hypogonadism (CHH) is a rare disorder of sexual maturation characterized by gonadotropin (Gn) deficiency with low sex steroid levels associated with low levels of follicle stimulating hormone (FSH) and luteinizing hormone (LH)." "" + "autosomal dominant brachyolmia" "Autosomal dominant brachyolmia is a relatively severe form of brachyolmia, a group of rare genetic skeletal disorders, characterized by short-trunked short stature, platyspondyly and kyphoscoliosis. Degenerative joint disease (osteoarthropathy) in the spine, large joints and interphalangeal joints becomes manifest in adulthood." "" + "brachyolmia" "Brachyolmia is a rare, clinically and genetically heterogeneous group of bone disorders characterized by short trunk, mild short stature, scoliosis and generalized platyspondyly without significant abnormalities in the long bones." "" + "TRPV4-related bone disorder" "" + "second branchial cleft anomaly" "A congenital defect in the neck that occurs during early embryonic development. It is caused by developmental abnormalities of the pharyngeal arches and results in the development of a cyst or a fissure in the side of the neck." "" + "cysts and fistulae of the face and oral cavity" "" + "branchial myoclonus with spastic paraparesis and cerebellar ataxia" "" + "branchiooculofacial syndrome" "Branchio-oculo-facial syndrome (BOFS) is characterised by low birth weight and growth retardation, bilateral branchial clefts that may be hemangiomatous, sometimes with linear skin lesions behind the ears ('burn-like' lesions), congenital strabismus, obstructed nasolacrimal ducts, a broad nasal bridge with a flattened nasal tip, a protruding upper lip with an unusually broad and prominent philtrum, and full mouth." "" + "branchiootorenal syndrome 1" "" + "familial juvenile hypertrophy of the breast" "Familial juvenile hypertrophy of the breast is a rare breast malformation disorder characterized by unilateral or bilateral, symmetrical or asymmetrical, uncontrolled, rapid and massive enlargement of the breast(s) in peripubertal females, occurring in various members of a family. Additional associated manifestations may include skin hyperemia, dilated subcutaneous veins, skin necrosis, kyphosis, lordosis and anonychia. Growth and development are otherwise normal." "" + "excess breast volume or number" "" + "amastia" "Absence of one or both mammary glands." "" + "isolated congenital breast hypoplasia/aplasia" "" + "epidermolytic hyperkeratosis" "A rare keratinopathic ichthyosis (KPI), that is characterized by a blistering phenotype at birth which progressively becomes hyperkeratotic." "" + "keratinopathic ichthyosis" "" + "progressive familial heart block, type 1A" "An autosomal dominant inherited cardiac bundle branch disorder which can progress to complete heart block." "" + "progressive familial heart block" "Familial progressive cardiac conduction defect (PCCD) is a hereditary cardiac conduction disorder that may progress to complete atrioventricular (AV) block. The disease is either asymptomatic or manifests as dyspnea, dizziness, syncope, abdominal pain, heart failure or sudden death." "" + "bundle branch block, familial isolated complete right" "" + "butyrylesterase 1" "" + "aggressive B-cell non-Hodgkin lymphoma" "" + "Caffey disease" "Caffey disease is an osteosclerotic dysplasia characterized by acute inflammation with massive subperiosteal new bone formation usually involving the diaphyses of the long bones, as well as the ribs, mandible, scapulae, and clavicles. The disease is associated with fever, irritability pain and soft tissue swelling, with onset around the age of 2 months and resolving spontaneously by the age of 2 years. However, prenatal disease onset has also been described." "" + "neonatal osteosclerotic dysplasia" "" + "neurofibromatosis type 6" "Neurofibromatosis type 6 (NF6), also referred as cafe-au-lait spots syndrome, is a cutaneous disorder characterized by the presence of several cafe-au-lait (CAL) macules without any other manifestations of neurofibromatosis or any other systemic disorder." "" + "calcific aortic disease with immunologic abnormalities, familial" "" + "basal ganglia calcification, idiopathic, childhood-onset" "" + "bilateral striopallidodentate calcinosis" "Bilateral striopallidodentate calcinosis (BSPDC, also erroneously called Fahr disease) is characterized by the accumulation of calcium deposits in different brain regions, particularly the basal ganglia and dentate nucleus, and is often associated with neurodegeneration." "" + "Aicardi-Goutieres syndrome" "Aicardi-Goutieres syndrome (AGS) is an inherited, subacute encephalopathy characterised by the association of basal ganglia calcification, leukodystrophy and cerebrospinal fluid (CSF) lymphocytosis." "" + "hereditary painful callosities" "Hereditary painful callosities is a nummular palmoplantar keratoderma characterized by the development of painful keratotic lesions over pressure points in hands and feet. A few families have been described. Transmission is autosomal dominant. Successful analgesia can be obtained with tretinoin." "" + "isolated focal palmoplantar keratoderma" "A focal palmoplantar keratoderma that is not part of a larger syndrome." "" + "camptobrachydactyly" "Camptobrachydactyly is an extremely rare brachydactyly syndrome, characterized by short broad hands and feet with brachydactyly associated with congenital flexion contractures of the proximal and/or distal interphalangeal joints of the fingers, as well as syndactyly of feet. Polydactyly, septate vagina and urinary incontinence were also occasionally reported. Camptobrachydactyly has been described in 18 members of 1 family, suggesting an autosomal dominant inheritance. There have been no further descriptions in the literature since 1972." "" + "camptodactyly of fingers" "Camptodactyly of fingers is a rare, genetic, non-syndromic, congenital limb malformation characterized by a painless, non-traumatic, non-neurogenic, often bilateral, permanent flexion contracture at the proximal interphalangeal joint of a postaxial finger, resulting in permanent volar inclination of the affected digit. The fifth finger is always involved, but additional digits might also be affected." "" + "congenital deformities of fingers" "" + "campomelic dysplasia" "Campomelic dysplasia is a very rare disorder characterised by a variable association of skeletal abnormalities (bowed and fragile long bones, pelvis and chest abnormalities, eleven rib pairs instead of the usual twelve), and extraskeletal abnormalities (facial dysmorphology, cleft palate, sexual ambiguity or sex reversal in two thirds of the affected boys, and brain, heart and kidney malformations)." "" + "syndrome with 46,XY disorder of sex development" "True" + "Gordon syndrome" "Gordon syndrome, also known as distal arthrogryposis type 3, is an extremely rare multiple congenital malformation syndrome characterized by congenital contractures of hand and feet with variable degrees of severity of camptodactyly, clubfoot and, less frequently, cleft palate. Intelligence is normal but in some cases, additional abnormalities, such as short stature, kyphoscoliosis, ptosis, micrognathia, and cryptorchidism may also be present. Gordon syndrome, Marden-Walker syndrome and arthrogryposis with oculomotor limitation and electroretinal anomalies clinically and genetically overlap, and could represent variable expressions of the same condition." "" + "cancer, familial, with in vitro Radioresistance" "" + "obsolete colorectal cancer" "" "true" + "candidiasis, familial, 1" "" + "chronic mucocutaneous candidiasis" "" + "canine teeth, absence of upper permanent" "" + "craniofaciofrontodigital syndrome" "Craniofaciofrontodigital is a rare multiple congenital anomalies syndrome characterized by mild intellectual disability, short stature, cardiac anomalies, mild dysmorphic features (macrocephaly, prominent forehead, hypertelorism, exophthalmos), cutis laxa, joint hyperlaxity, wrinkled palms and soles and skeletal anomalies (sella turcica, wide ribs and small vertebral bodies)." "" + "inherited cutis laxa" "An instance of cutis laxa that is inherited." "" + "Car factor deficiency" "" + "Carabelli anomaly of maxillary molar teeth" "" + "obsolete carcinoid syndrome" "" "true" + "sudden cardiac arrest" "An unexpected natural death from a cardiac cause within a short time period from the onset of symptoms." "" + "cardiofaciocutaneous syndrome 1" "Any cardiofaciocutaneous syndrome in which the cause of the disease is a mutation in the BRAF gene." "" + "cardiofaciocutaneous syndrome" "Cardiofaciocutaneous (CFC) syndrome is a RASopathy characterized by craniofacial dysmorphology, congenital heart disease, dermatological abnormalities (most commonly hyperkeratotic skin and sparse, curly hair), growth retardation and intellectual disability." "" + "hypertrophic cardiomyopathy 2" "Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the TNNT2 gene." "" + "familial hypertrophic cardiomyopathy" "Hypertrophic cardiomyopathy caused by mutations in the genes encoding components of the sarcomere, in the absence of predisposing conditions." "" + "hypertrophic cardiomyopathy 3" "Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the TPM1 gene." "" + "hypertrophic cardiomyopathy 4" "An autosomal dominant condition caused by mutation(s) in the MYBPC3 gene, encoding MYBPC3 protein. It is characterized by severe neonatal hypertrophic cardiomyopathy." "" + "dilated cardiomyopathy 1A" "Familial dilated cardiomyopathy with conduction defect due to LMNA mutation is a rare familial dilated cardiomyopathy characterized by left ventricular enlargement and/or reduced systolic function preceded or accompanied by significant conduction system disease and/or arrhythmias including bradyarrhythmias, supraventricular or ventricular arrhythmias. Disease onset is usually in early to mid-adulthood. Sudden cardiac death may occur and may be the presenting symptom. In some cases, it is associated with skeletal myopathy and elevated serum creatine kinase." "" + "familial isolated dilated cardiomyopathy" "Familial isolated dilated cardiomyopathy is a rare, genetically heterogeneous cardiac disease characterized by dilatation leading to systolic and diastolic dysfunction of the left and/or right ventricles, causing heart failure or arrhythmia." "" + "cardiomyopathy, familial restrictive, 1" "Any familial isolated restrictive cardiomyopathy in which the cause of the disease is a mutation in the TNNI3 gene." "" + "familial isolated restrictive cardiomyopathy" "Familial restrictive cardiomyopathy is a genetic form of heart disease, in which the heart muscle is stiff and cannot fully relax after each contraction. Impaired muscle relaxation causes blood to back up in the atria and lungs, which reduces the amount of blood in the ventricles." "" + "familial cutaneous collagenoma" "Familial cutaneous collagenoma is a connective tissue nevus characterized by multiple, flesh-colored asymptomatic nodules distributed symmetrically on the trunk and upper arms (mainly on the upper two-thirds of the back), manifesting around adolescence. The skin biopsy reveals an accumulation of collagen fibers with reduction in the number of elastic fibers. Cardiac anomalies may be observed. Familial cutaneous collagenoma follows an autosomal dominant mode of transmission." "" + "hereditary hypercarotenemia and vitamin A deficiency" "Hereditary hypercarotenemia and vitamin A deficiency is an extremely rare metabolic disorder characterized clinically by skin discoloration, elevated levels of carotene and low levels of vitamin A described in fewer than 5 patients to date." "" + "disorder of other vitamins and cofactors metabolism and transport" "" + "paragangliomas 4" "Any paraganglioma in which the cause of the disease is a mutation in the SDHB gene." "" + "hereditary pheochromocytoma-paraganglioma" "Hereditary paraganglioma-pheochromocytomas (PGL/PCC) are rare neuroendocrine tumors represented by paragangliomas (occurring in any paraganglia from the skull base to the pelvic floor) and pheochromocytomas (adrenal medullary paragangliomas)." "" + "carpal displacement" "" + "carpal tunnel syndrome" "Entrapment of the median nerve in the wrist that is characterized by numbness, tingling and painful movement." "" + "cat-eye syndrome" "Cat eye syndrome (CES) is a rare chromosomal disorder with a highly variable clinical presentation. Most patients have multiple malformations affecting the eyes (iris coloboma), ears (preauricular pits and/or tags), anal region (anal atresia), heart and kidneys. Intellectual disability is usually mild or borderline normal." "" + "complex chromosomal rearrangement" "" + "cataract-aberrant oral frenula-growth delay syndrome" "Cataract-aberrant oral frenula-growth delay syndrome is characterized by cataracts and short stature associated with variable anomalies, including aberrant oral frenula, a characteristic facial appearance (posteriorly angulated ears, upslanting palpebral fissures, small nose, ptosis and epicanthal folds) cavernous hemangiomas and hernias. It has been described in a mother and her two children. It is transmitted as an autosomal dominant trait." "" + "autosomal dominant cataract" "A syndromic cataract that has autosomal dominant inheritance." "" + "cataract 32 multiple types" "A cataract that has material basis in mutation in the region 14q22-q23." "" + "early-onset non-syndromic cataract" "Early-onset non-syndromic cataract is a rare, genetic, non-syndromic developmental defect of the eye, with high clinical and genetic heterogeneity, most frequently characterized by bilateral, symmetrical, non-progressive cataracts which present at birth or in early-childhood. Additional ocular manifestations (e.g. anterior segment dysgenesis, colobomas, nystagmus, microcornea, microphthalmia, myopia) may be associated, however other organs/systems are usually not affected." "" + "cataract 7" "A cataract that has material basis in variation in the region 17q24." "" + "cerulean cataract" "Cerulean cataract is a type of hereditary congenital cataract distinguished by bluish and white opacifications in the superficial layers of the fetal lens nucleus and adult lens nucleus and characterized by reduced visual acuity in childhood, eventually necessitating extraction of the lens." "" + "cataract 8 multiple types" "A cataract that has material basis in variation in the region 1pter-p36.13." "" + "cataract 4 multiple types" "Any cataract (disease) in which the cause of the disease is a mutation in the CRYGD gene." "" + "cataract - microcornea syndrome" "Cataract-microcornea syndrome is characterized by the association of congenital cataract and microcornea without any other systemic anomaly or dysmorphism." "" + "cataract 29" "A cataract that has material basis in variation in the region 2pter-p24." "" + "coralliform cataract" "" + "cataract 42" "Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CRYBA2 gene." "" + "cataract 20 multiple types" "Any cataract (disease) in which the cause of the disease is a mutation in the CRYGS gene." "" + "cataract 1 multiple types" "Any cataract (disease) in which the cause of the disease is a mutation in the GJA8 gene." "" + "cataract 30" "A cataract that has material basis in heterozygous mutation in the VIM gene on chromosome 10p13." "" + "early-onset partial cataract" "" + "cataract 41" "Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the WFS1 gene." "" + "early-onset nuclear cataract" "" + "cataract 6 multiple types" "Any cataract (disease) in which the cause of the disease is a mutation in the EPHA2 gene." "" + "cataract 13 with adult I phenotype" "A cataract that has material basis in homozygous or compound heterozygous mutation in the GCNT2 gene on chromosome 6p24." "" + "cataract 5 multiple types" "Any cataract (disease) in which the cause of the disease is a mutation in the HSF4 gene." "" + "obsolete familial cerebral cavernous malformation" "" "true" + "obsolete celiac artery stenosis from compression by median arcuate ligament of diaphragm" "" "true" + "leukocyte adhesion deficiency 1" "Leukocyte adhesion deficiency type I (LAD-I) is a form of LAD characterized by life-threatening, recurrent bacterial infections." "" + "leukocyte adhesion deficiency" "Leukocyte adhesion deficiency (LAD) is a primary immunodeficiency characterized by defects in the leukocyte adhesion process, marked leukocytosis and recurrent infections." "" + "central core myopathy" "An autosomal dominant congenital disorder affecting the skeletal muscles. Microscopically, it is characterized by disorganized areas, which are called cores, seen usually in the center of the muscle fibers. Clinically it presents as mild to severe muscle weakness. It may be associated with skeletal abnormalities including scoliosis, joint deformities, and hip dislocation." "" + "congenital myopathy with cores" "" + "myofibrillar myopathy" "Myofibrillar myopathy (MFM) describes a group of skeletal and cardiac muscle disorders, defined by the disintegration of myofibrils and aggregation of degradation products into intracellular inclusions, and is typically clinically characterized by slowly-progressive muscle weakness, which initially involves the distal muscles, but is highly variable and that can affect the proximal muscles as well as the cardiac and respiratory muscles in some patients." "" + "RYR1-related myopathy" "" + "TPM2-related myopathy" "A congenital myopathy of the musculoskeletal system that covers a wide spectrum of phenotypes and is caused by pathogenic variants in the skeletal muscle beta-Tropomyosin gene. These variants lead to a variety of overlapping adult onset and congenital myopathies characterized by muscle weakness, amyotrophy, hypotonia, myopathic facies, scoliosis, and sometimes contractures among other phenotypes. Histologic findings on skeletal muscle biopsy are variable with nemaline and intranuclear bodies, cap-like lesions, core-like lesions, fiber-type disproportion, and dystrophic features all observed to some degree." "" + "rolandic epilepsy" "Rolandic epilepsy (RE) is a focal childhood epilepsy characterized by seizures consisting of unilateral facial sensory-motor symptoms, with electroencephalogram (EEG) showing sharp biphasic waves over the rolandic region. It is an age-related epilepsy, with excellent outcome." "" + "Landau-Kleffner syndrome" "Landau-Kleffner syndrome (LKS) is a rare neurological syndrome characterized by the sudden or gradual development of aphasia (the inability to understand or express language) and recurrent seizures (epilepsy). Children with LKS typically develop normally until signs and symptoms of the syndrome begin to develop between age 2 and 8 years. Males are more often affected by LKS than females. In about 20% of people with LKS, mutations (changes) in the GRIN2A gene have been identified. The syndrome is inherited in an autosomal dominant manner. In other cases, the syndrome may be caused by changes to other unidentified genes. LKS is diagnosed when a doctor sees clinical features that are consistent with the syndrome such as a loss of speech and an electroencephalogram (EEG) that shows specific kinds of seizure activity. Genetic testing can be used to confirm if there is a mutation in GRIN2A, but this testing is not done routinely. Treatment for LKS usually consists of medications such as anticonvulsants and corticosteroids to help prevent seizures. Speech therapy should also be started promptly in order to ensure the best long-term outlook for children with LKS." "" + "spinocerebellar ataxia type 31" "Spinocerebellar ataxia type 31 (SCA31) is a very rare subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by the late-onset of cerebral ataxia, dysarthria and horizontal gaze nystagmus, and that is occasionally accompanied by pyramidal signs, tremor, decreased vibration sense and hearing difficulties." "" + "autosomal dominant cerebellar ataxia type III" "Autosomal dominant cerebellar ataxia (ACDA) type III is a group of neurodegenerative disorders characterized by mostly pure cerebellar syndromes with occasional non-cerebellar signs (e.g. pyramidal signs, peripheral neuropathy, writer's cramp) and includes spinocerebellar ataxia (SCA) type 5 (SCA5), SCA6, SCA11, SCA26, SCA30, and SCA31." "" + "ADan amyloidosis" "A cerebral amyloid angiopathy characterized by ataxia, intention tremor, psychosis and dementia that has material basis in an autosomal dominant mutation of ITM2B on chromosome 13q14.2." "" + "ITM2B amyloidosis" "" + "spinocerebellar ataxia type 29" "Spinocerebellar ataxia type 29 (SCA29) is a rare subtype of autosomal dominant cerebellar ataxia type I (ADCA type I) characterized by very slowly progressive or non-progressive ataxia, dysarthria, oculomotor abnormalities and intellectual disability." "" + "Sotos syndrome 1" "Any Sotos syndrome in which the cause of the disease is a mutation in the NSD1 gene." "" + "Sotos syndrome" "Sotos syndrome is a rare multisystemic genetic disorder characterized by a typical facial appearance, overgrowth of the body in early life with macrocephaly, and mild to severe intellectual disability." "" + "cerebral sarcoma" "A sarcoma involving a telencephalon." "" + "cerebrocostomandibular syndrome" "Cerebro-costo-mandibular syndrome (CCMS) is characterized at birth by posterior rib gaps and orofacial anomalies reminiscent of Pierre Robin syndrome that include palatal defects (short hard palate, absent soft palate, absent uvula), micrognathia and glossoptosis." "" + "cervical hypertrichosis with underlying kyphoscoliosis" "" + "cervical rib disease" "A rib that is attached to a cervical vertebra or enlarged transverse processes." "" + "cervical vertebral Bridge" "" + "cervical vertebral dysplasia" "" + "Klippel-Feil syndrome 1, autosomal dominant" "Any isolated Klippel-Feil syndrome in which the cause of the disease is a mutation in the GDF6 gene." "" + "isolated Klippel-Feil syndrome" "Klippel-Feil Syndrome is characterised by improper segmentation of cervical segments resulting in congenitally fused cervical vertebrae." "" + "Charcot-Marie-Tooth disease type 1B" "A sensorineural peripheral polyneuropathy affecting approximately 1 in 2,500 individuals, and is the most common inherited disorder of the peripheral nervous system. Autosomal dominant, autosomal recessive, and X-linked forms have been recognized." "" + "Charcot-Marie-Tooth disease type 1" "Charcot-Marie-Tooth disease type 1 (CMT1) is a group of autosomal dominant demyelinating peripheral neuropathies characterized by distal weakness and atrophy, sensory loss, foot deformities, and slow nerve conduction velocity." "" + "Charcot-Marie-Tooth disease dominant intermediate D" "Autosomal dominant intermediate Charcot-Marie-Tooth disease type D is a rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both axonal degeneration and demyelination without onion bulbs in nerve biopsies. It presents with usual Charcot-Marie-Tooth disease clinical features of variable severity (progressive muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities). Other findings in some of the families include debilitating neuropathic pain and mild postural/kinetic upper limb tremor." "" + "Charcot-Marie-Tooth disease type 2A1" "Autosomal dominant Charcot-Marie-Tooth disease type 2A1 (CMT2A1) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2A presents with a more prominent muscle weakness in lower than upper limbs and frequent postural tremor." "" + "Charcot-Marie-Tooth disease type 2" "A Charcot-Marie-Tooth disease characterized by abnormalities in the axon of the peripheral nerve cell." "" + "Charcot-Marie-Tooth disease type 1A" "Charcot-Marie-Tooth disease type 1A (CMT1A) is a type ofinherited neurological disorder that affects the peripheral nerves. Affected individuals experience weakness and wasting (atrophy) of the muscles of the lower legs beginning in adolescence; later they experience hand weakness and sensory loss. CMT1A is caused byhaving an extra copy (a duplication) of the PMP22 gene. It is inherited in an autosomal dominant manner. Treatment for this condition may include physical therapy ; occupational therapy ; braces and other orthopedic devices; orthopedic surgery;and pain medications." "" + "partial duplication of the short arm of chromosome 17" "" + "Charcot-Marie-Tooth disease, Guadalajara neuronal type" "" + "Charcot-Marie-Tooth disease type 1E" "A rare subtype of CMT1 characterized by a variable clinical presentation. Onset within the first two years of life with a delay in walking is not uncommon; however, onset may occur later. CMT1E is caused by point mutations in the PMP22 (17p12) gene. The disease severity depends on the particular PMP22 mutation, with some cases being very mild and even resembling hereditary neuropathy with liability to pressure palsies, while others having an earlier onset with a more severe phenotype (reminiscent of Dejerine-Sottas syndrome) than that seen in CMT1A, caused by gene duplication. These severe cases may also report deafness and much slower motor nerve conduction velocities compared to CMT1A patients." "" + "Charcot-Marie-Tooth disease with ptosis and parkinsonism" "" + "cheilitis glandularis" "Cheilitis glandularis (CG) is an uncommon chronic inflammatory disease of unknown origin characterized by macrocheilia and secretions of thick saliva from swollen labial minor salivary glands." "" + "chemodectoma, intraabdominal, with cutaneous angiolipomas" "" + "cherubism" "Cherubism is a rare, self-limiting, fibro-osseous, genetic disease of childhood and adolescence characterized by varying degrees of progressive bilateral enlargement of the mandible and/or maxilla, with clinical repercussions in severe cases." "" + "autoinflammatory syndrome with immune deficiency" "True" + "Chiari malformation type I" "Arnold-Chiari malformation type I is a central nervous system malformation characterized by caudal displacement of the cerebellar tonsils exceeding 5mm below the foramen magnum with or without syringomyelia. Symptoms vary in onset and severity and include suboccipital headache, neck pain, vertigo, tinnitus, ocular symptoms (diplopia, blurred vision, photofobia, nystagmus), lower cranial nerve signs, cerebellar ataxia, and spasticity. Some affected individuals can be asymptomatic." "" + "neural tube defect" "A congenital defect characterized by failure of the neural tube to close completely; this results in the presence of openings in the brain or spinal cord. Examples of neural tube defects include encephalocele and spina bifida." "" + "chlorpropamide-alcohol flushing" "" + "Alagille syndrome" "Alagille (AGS) syndrome is variably characterized by chronic cholestasis due to paucity of intrahepatic bile ducts, peripheral pulmonary artery stenosis, vertebrae segmentation anomalies, characteristic facies, posterior embryotoxon/anterior segment abnormalities, pigmentary retinopathy, and dysplastic kidneys." "" + "syndromic visceral malformation" "" + "chondrocalcinosis 2" "A chronic inherited arthropathy characterized by chondrocalcinosis (CC; i.e. cartilage calcification), often associated with recurrent acute calcium pyrophosphate (CPP) crystal arthritis and polyarticular osteoarthritis (OA)." "" + "chondrocalcinosis due to apatite crystal deposition" "" + "autosomal dominant chondrodysplasia punctata" "Autosomal dominant form of chondrodysplasia punctata." "" + "chondrodysplasia punctata" "A rare congenital developmental disorder characterized by the presence of stippled foci of calcification in the hyaline cartilage, joint contractions, mental retardation and ichthyosis." "" + "non-rhizomelic chondrodysplasia punctata" "Nonrhizomelic chondrodysplasia punctata is a form of chondrodysplasia punctata, a group of diseases in which the common characteristic is bone calcifications near joints from birth. Nonrhizomelic chondrodysplasia punctata is not an entity in itself but covers several diseases with variable clinical findings and modes of transmission." "" + "chondrodysplasia punctata, tibial-metacarpal type" "" + "Chondronectin" "" + "obsolete chorea" "" "true" + "choreoathetosis, familial inverted" "" + "obsolete paroxysmal nonkinesigenic dyskinesia 1" "" "true" + "chylomicronemia, familial, due to circulating inhibitor of lipoprotein lipase" "" + "familial chylomicronemia syndrome" "" + "choroidal osteoma, bilateral" "" + "congenital pseudoarthrosis of clavicle" "Congenital pseudoarthrosis of the clavicle is a rare benign condition, characterized by a painless mass or swelling over the clavicle." "" + "cleft chin" "" + "split-hand/foot malformation with long bone deficiency 1" "" + "tibial aplasia-ectrodactyly syndrome" "Tibial aplasia-ectrodactyly syndrome is a rare condition characterized by congenital ectrodactylous limb malformations associated with tibial aplasia or hypoplasia." "" + "van der Woude syndrome 1" "Any van der Woude syndrome in which the cause of the disease is a mutation in the IRF6 gene." "" + "van der Woude syndrome" "Van der Woude syndrome (VWS) is a rare congenital genetic dysmorphic syndrome characterized by paramedian lower-lip fistulae, cleft lip with or without cleft palate, or isolated cleft palate." "" + "autosomal dominant popliteal pterygium syndrome" "Autosomal dominant popliteal pterygium syndrome (AD-PPS) is a rare genetic malformative disorder characterized by cleft lip, with or without cleft palate, contractures of the lower extremities, abnormal external genitalia, syndactyly of fingers and/or toes, and a pyramidal skin fold over the hallux nail." "" + "popliteal pterygium syndrome" "A rare, autosomal dominant inherited syndrome caused by mutations in the IRF6 gene. It is characterized by the presence of cleft palate, cleft lip, pits in the lower lip, web behind the knee (popliteal pterygium), syndactyly, cryptorchidism, scrotal malformation, and hypoplasia of the labia majora." "" + "intellectual disability, autosomal dominant" "" + "orofacial cleft 1" "Cleft lip with or without cleft palate mapped to chromosome 6p24." "" + "isolated cleft palate" "A cleft palate that is not part of a larger syndrome." "" + "cleft palate" "Cleft palate is a fissure type embryopathy that affects the soft and hard palate to varying degrees." "" + "cleft palate-lateral synechia syndrome" "Cleft palate-lateral synechia syndrome (CPLS) is a congenital malformation syndrome characterized by the association of cleft palate and intra-oral lateral synechiae connecting the free borders of the palate and the floor of the mouth. CPLS is presumed to be inherited in an autosomal dominant manner." "" + "cleft soft palate" "Cleft velum is a fissure type embryopathy that affects in varying degrees the soft palate." "" + "blepharocheilodontic syndrome" "An ectodermal dysplasia syndrome characterized by the association of abnormalities of the eyelids, lips, and teeth." "" + "congenital ectropion" "" + "cleidocranial dysplasia" "Cleidocranial dysplasia (CCD) is a condition that primarily affects the development of the bones and teeth. Characteristic features include underdeveloped or absent collarbones (clavicles); dental abnormalities; and delayed closing of the spaces between the skull bones (fontanels). Other features may include decreased bone density (osteopenia), osteoporosis, hearing loss, bone abnormalities of the hands, and recurrent sinus and ear infections. CCD is caused by changes (mutations) in the RUNX2 gene and inheritance is autosomal dominant. It may be inherited from an affected parent or occur due to a new mutation in the RUNX2 gene. Management may include dental procedures, treatment of sinus and ear infections, use of helmets for high-risk activities, and/or surgery for skeletal problems." "" + "cranial malformation" "" + "cleidorhizomelic syndrome" "Cleidorhizomelic syndrome is a rhizo-mesomelic dysplasia characterized by rhizomelic short stature/dwarfism in combination with lateral clavicular defects. Additional manifestations include brachydactyly with bilateral clinodactyly and hypoplastic middle phalanx of the fifth digit. X-ray demonstrated an apparent Y-shaped or bifid distal clavicle. Cleidorhizomelic syndrome has been reported in one family (mother and son) and is suspected to be transmitted in an autosomal dominant manner. There have been no further descriptions in the literature since 1988." "" + "mesomelic and rhizo-mesomelic dysplasia" "" + "clubfoot" "The most common congenital deformation of the foot, occurring in 1 of 1,000 live births. The most common form is talipes equinovarus, where the deformed foot is turned downward and inward sharply." "" + "familial clubfoot with or without associated lower limb anomalies" "Familial clubfoot with or without associated lower limb anomalies is a rare congenital limb malformation syndrome characterized by malalignment of the bones and joints of the foot and ankle, with presence of forefoot and midfoot adductus, hindfoot varus, and ankle equinus, presenting as rigid inward turning of the foot towards the midline, in various members of a single family. Hypoplasia of lower leg muscles is a frequently associated finding. Patients may present with other low-limb malformations, such as patellar hypoplasia, oblique talus, tibial hemimelia, and polydactyly." "" + "isolated congenital digital clubbing" "Isolated congenital digital clubbing is a rare genodermatosis disorder characterized by enlargement of the terminal segments of fingers and toes with thickened nails without any other abnormality." "" + "joint formation defects" "" + "inherited isolated nail anomaly" "A nail anomaly that is not part of a larger syndrome." "" + "cluster headache, familial" "An instance of cluster headache syndrome that is caused by an inherited modification of the individual's genome." "" + "cluster headache syndrome" "A headache disorder that is characterized by periodic severe, unilateral orbital, supraorbital, and/or temporal pain, and is associated with ipsilateral cranial autonomic symptoms." "" + "aorta coarctation" "Congenital narrowing of a segment of the aorta. Signs and symptoms include hypertension, muscle weakness, shortness of breath, headaches and leg cramps." "" + "cochleosaccular degeneration-cataract syndrome" "Cochleosaccular degeneration-cataract syndrome is characterised by progressive sensorineural hearing loss due to severe cochleosaccular degeneration and cataract. So far, it has been reported in two families. Transmission is autosomal dominant." "" + "obsolete Coxsackievirus B3 susceptibility" "" "true" + "obsolete colchicine resistance" "" "true" + "familial cold autoinflammatory syndrome 1" "Any familial cold autoinflammatory syndrome in which the cause of the disease is a mutation in the NLRP3 gene." "" + "familial cold autoinflammatory syndrome" "Familial cold urticaria (FCAS) is the mildest form of cryopyrin-associated periodic syndrome (CAPS) and is characterized by recurrent episodes of urticaria-like skin rash triggered by exposure to cold associated with low-grade fever, general malaise, eye redness and arthralgia/myalgia." "" + "coloboma, ocular, autosomal dominant" "" + "coloboma of macula" "Coloboma of macula is a rare, non-syndromic developmental defect of the eye characterized by well-circumscribed, oval or rounded, usually unilateral, atrophic lesions of varying size presenting rudimentary or absent retina, choroid and sclera located at the macula leading to decreased vision and, on occasion, other symptoms (e.g. strabismus). It is usually isolated, but may also be associated with Down syndrome, skeletal or renal disorders." "" + "renal coloboma syndrome" "Renal coloboma syndrome (RCS) is a genetic condition characterized by optic nerve dysplasia and renal hypodysplasia." "" + "coloboma of macula-brachydactyly type B syndrome" "Coloboma of macula - brachydactyly type B or Sorsby syndrome is a malformation syndrome characterized by the combination of bilateral coloboma of macula with horizontal pendular nystagmus and severe visual loss, and brachydactyly type B. The hand and feet defects comprise shortening of the middle and terminal phalanges of the second to fifth digits, hypoplastic or absent nails (congenital anonychia), broad or bifid thumbs and halluces, syndactyly and flexion deformities of the joints of some digits. Coloboma of macula - brachydactyly type B is inherited in a dominant manner." "" + "coloboma of optic nerve" "" + "uveal coloboma-cleft lip and palate-intellectual disability" "Uveal coloboma-cleft lip and palate-intellectual disability is characterised by coloboma of the iris, bilateral cleft lip and palate, and intellectual deficiency of varying degree. A wide variability in clinical expression is observed. Some patients also present with microphthalmia, cataract, glaucoma, ptosis, sensorineural hearing loss and haematuria. To date, 12 cases have been described from three generations of a single family. Transmission is autosomal dominant." "" + "Lynch syndrome 1" "Any Lynch syndrome in which the cause of the disease is a mutation in the MSH2 gene." "" + "colonic varices without portal hypertension" "" + "comedones, familial Dyskeratotic" "" + "commissural lip pits" "" + "branchiootic syndrome 2" "" + "branchiootic syndrome" "Branchiootic syndrome is a rare, genetic multiple congenital anomalies syndrome characterized by second branchial arch anomalies (branchial cysts and fistulae), malformations of the outer, middle and inner ear associated with sensorineural, mixed or conductive hearing loss, and the absence of renal abnormalities. Typical ear findings consist of malformed auricles (e.g. lop or cupped ears), preauricular pits and/or tags, and middle and/or inner ear dysplasias (inculding cochlear, vestibular and semicircular channel hypoplasia, malformation of the ossicles and of middle ear space)." "" + "C1 inhibitor deficiency" "" + "immunodeficiency due to a complement regulatory deficiency" "True" + "serpinopathy" "" + "cone-rod dystrophy 2" "Any cone-rod dystrophy in which the cause of the disease is a mutation in the CRX gene." "" + "cone-rod dystrophy" "Inherited retinal dystrophies that belong to the group of pigmentary retinopathies." "" + "congenital contractural arachnodactyly" "Congenital contractural arachnodactyly (CCA, Beals syndrome) is a connective tissue disorder characterized by multiple flexion contractures, arachnodactyly, severe kyphoscoliosis, abnormal pinnae and muscular hypoplasia." "" + "arthrogryposis" "A rare, non-progressive congenital disorder characterized by multiple joint contractures which are present at birth." "" + "Marfan and Marfan-related disorder" "" + "arthrogryposis, distal, type 2E" "" + "seizures, benign familial neonatal, 1" "Any benign neonatal seizures in which the cause of the disease is a mutation in the KCNQ2 gene." "" + "benign neonatal seizures" "A rare genetic epilepsy syndrome characterized by the occurrence of afebrile seizures in otherwise healthy newborns with onset in the first few days of life." "" + "seizures, benign familial neonatal, 2" "Any benign neonatal seizures in which the cause of the disease is a mutation in the KCNQ3 gene." "" + "febrile seizures, familial, 1" "" + "familial benign copper deficiency" "Familial benign copper deficiency is a rare disorder of mineral absorption and transport characterized by hypocupremia that manifests as failure to thrive, mild anemia, repeated seizures, hypotonia, and seborrheic skin. Spurring of the femur and tibia are also noted on radiographic imaging. Symptoms are reversible or improve with supplements of oral copper. There have been no further descriptions in the literature since 1982." "" + "disorder of copper metabolism" "An acquired metabolic disease that is has its basis in the disruption of cellular copper ion homeostasis." "" + "hereditary coproporphyria" "Hereditary coproporphyria is a form of acute hepatic porphyria characterized by the occurrence of neuro-visceral attacks and, more rarely, by the presence of cutaneous lesions." "" + "coracoclavicular joint, anomalous" "" + "cornea guttata with anterior polar cataracts" "" + "cornea plana 1, autosomal dominant" "" + "congenital cornea plana" "" + "corneal degeneration, ribbonlike, with deafness" "" + "Schnyder corneal dystrophy" "Schnyder corneal dystrophy (SCD) is a rare form of stromal corneal dystrophy characterized by corneal clouding or crystals within the corneal stroma, and a progressive decrease in visual acuity." "" + "epithelial basement membrane dystrophy" "" + "superficial corneal dystrophy" "The superficial corneal dystrophies refer to a group of rare genetically determined corneal dystrophies (CDs) characterized by lesions affecting the corneal epithelium and its basement membrane and the superficial corneal stroma, and variable effects on vision depending on the type of dystrophy." "" + "fleck corneal dystrophy" "Fleck corneal dystrophy (FCD) is a rare generally asymptomatic form of stromal corneal dystrophy characterized by multiple asymptomatic, non-progressive opacities disseminated throughout the corneal stroma with no effect on visual acuity." "" + "granular corneal dystrophy type I" "Type I granular corneal dystrophy (GCDI) is a rare form of stromal corneal dystrophy characterized by multiple small deposits in the superficial central corneal stroma, and progressive visual impairment, which may sometimes be severe." "" + "posterior polymorphous corneal dystrophy 1" "A posterior polymorphous corneal dystrophy that has material basis in autosomal dominant inheritance of mutation in the OVOL2 gene on chromosome 20p11.23." "" + "posterior polymorphous corneal dystrophy" "Posterior polymorphous corneal dystrophy (PPCD) is a rare mild subtype of posterior corneal dystrophy characterized by small aggregates of apparent vesicles bordered by a gray haze at the level of Descemet membrane, generally with no effect on vision." "" + "Meesmann corneal dystrophy" "Meesmann corneal dystrophy (MECD) is a rare form of superficial corneal dystrophy characterized by distinct tiny bubble-like, round-to-oval punctate bilateral opacities in the central corneal epithelium, and to a lesser extent in the peripheral cornea, with little impact on vision." "" + "lattice corneal dystrophy type I" "Type I lattice corneal dystrophy (LCDI) is a frequent form of stromal corneal dystrophy characterized by a network of delicate interdigitating branching filamentous opacities within the cornea with progressive visual impairment and no systemic manifestations." "" + "epithelial recurrent erosion dystrophy" "Epithelial recurrent erosion dystrophy (ERED) is a rare form of superficial corneal dystrophy characterized by recurrent episodes of epithelial erosions from childhood in the absence of associated diseases, with occasional impairment of vision." "" + "Ramos-Arroyo syndrome" "Ramos-Arroyo syndrome (RAS) is a very rare genetic disorder characterized by corneal anesthesia, retinal abnormalities, bilateral hearing loss, distinct facies, patent ductus arteriosus, Hirschsprung disease, short stature, and intellectual disability." "" + "Stern-Lubinsky-Durrie syndrome" "Stern-Lubinsky-Durrie syndrome is characterised by corneal epithelial changes (associated with photophobia and burning and watering of the eyes), diffuse palmoplantar hyperkeratosis, distal onycholysis, brachydactyly, short stature, dental problems, and premature birth. It has been described in seven individuals from three generations of one family. It is transmitted as an autosomal dominant trait." "" + "congenital trigeminal anesthesia" "Congenital trigeminal anesthesia is a rare neuro-ophtalmological disorder characterized by a congenital sensory deficit involving all or some of the sensory components of the trigeminal nerve. Due to corneal anesthesia, it usually presents with recurrent, painless eye infections, painless corneal opacities and/or poorly healing, ulcerated wounds on the facial skin and mucosa (typically the buccal mucosa and/or nasal septum)." "" + "idiopathic spontaneous coronary artery dissection" "" + "non-inflammatory vasculopathy" "" + "obsolete human coronavirus sensitivity" "" "true" + "Cornelia de Lange syndrome 1" "Any Cornelia de Lange syndrome in which the cause of the disease is a mutation in the NIPBL gene." "" + "Cornelia de Lange syndrome" "A rare syndrome characterized by low birth weight, delayed growth, intellectual disabillity, behavioral problems, and a distinctive facial appearance (thin, arched eyebrows, low set ears, small teeth, and small nose). The majority of cases are caused by mutations in the NIPBL gene. Less severe forms of the syndrome are caused by mutations in the SMC1A and SMC3 genes." "" + "congenitally short costocoracoid ligament" "Congenital shortness of the costocoracoid ligament is a rare anomaly characterized by fixation of the scapula to the first rib, resulting in a cosmetic deformity with rounding of the shoulders and loss of the anterior clavicular contour." "" + "spondylocostal dysostosis 5" "Any spondylocostal dysostosis in which the cause of the disease is a mutation in the TBX6 gene." "" + "coumarin resistance" "" + "coxa vara" "Hip deformity in which the femoral neck leans forward resulting in a decrease in the angle between femoral neck and its shaft. It may be congenital often syndromic, acquired, or developmental." "" + "coxoauricular syndrome" "Coxoauricular syndrome is an extremely rare primary bone defect, described only in a mother and her three daughters to date, characterized by short stature, hip dislocation, minor vertebral and pelvic changes, and microtia with hearing loss. There have been no further descriptions in the literature since 1981." "" + "cranioacrofacial syndrome" "" + "obsolete craniodiaphyseal dysplasia" "" "true" + "craniofacial-deafness-hand syndrome" "Craniofacial-deafness-hand syndrome (CDHS) is an autosomal dominant disorder, described in one family to date, characterized by characteristic facial features (flat facial profile with normal calvarium, hypertelorism, small downslanting palpebral fissures, hypoplastic nose with button tip and slitlike nares, small ''pursed'' mouth), profound sensorineural deafness, and ulnar deviations and contractures of the hand. CDHS is thought to be an allelic variant of Waardenburg syndrome that can be distinguished from the latter by its imaging findings and distinct facial features." "" + "dysostosis, Stanescu type" "Stanescu type dysostosis is a rare form of osteosclerosis." "" + "craniometaphyseal dysplasia, autosomal dominant" "" + "craniometaphyseal dysplasia" "Craniometaphyseal dysplasia (CMD) is a very rare genetic bone disease characterized by progressive diffuse hyperostosis of cranial bones causing facial dysmorphism and functional repercussions, and metaphyseal widening of long bones." "" + "craniorhiny" "" + "TWIST1-related craniosynostosis" "Any craniosynostosis in which the cause of the disease is a mutation in the TWIST1 gene." "" + "isolated scaphocephaly" "Isolated scaphocephaly is a form of nonsyndromic craniosynostosis characterized by premature fusion of the sagittal suture." "" + "isolated plagiocephaly" "Isolated synostotic plagiocephaly (SP) is a form of nonsyndromic craniosynostosis characterized by premature fusion of one coronal suture leading to skull deformity and facial asymmetry." "" + "isolated brachycephaly" "Isolated brachycephaly is a relatively frequent nonsyndromic craniosynostosis consisting of premature fusion of both coronal sutures leading to skull deformity with a broad flat forehead and palpable coronal ridges." "" + "isolated oxycephaly" "Isolated oxycephaly is a late-appearing form of nonsyndromic craniosynostosis characterized by premature fusion of both the coronal and sagittal sutures, and, in some cases, of the lambdoid sutures. Compensatory growth in the region of the anterior fontanel results in a pointed or cone-shaped skull." "" + "Jackson-Weiss syndrome" "Jackson-Weiss syndrome (JWS) is a rare genetic disorder characterized by foot malformations (tarsal and metatarsal fusions; short, broad, medially deviated great toes) and in some patients craniosynostosis with facial anomalies. Hands are normal in affected patients." "" + "craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome" "Craniosynostosis, Dandy-Walker malformation and hydrocephalus is a malformation disorder characterized by sagittal craniosynostosis, Dandy-Walker malformation, hydrocephalus, craniofacial dysmorphism (including dolichocephaly, hypertelorism, micrognathia, positional ear deformity) and variable developmental delay. The inheritance pattern appears to be autosomal dominant." "" + "familial scaphocephaly syndrome" "" + "syndrome with a Dandy-Walker malformation as major feature" "True" + "creatine phosphokinase, elevated serum" "" + "inherited Creutzfeldt-Jakob disease" "Inherited or familial Creutzfeldt-Jakob disease (fCJD) is a very rare form of genetic prion disease characterized by typical CJD features (rapidly progressive dementia, personality/behavioral changes, psychiatric disorders, myoclonus, and ataxia) with a genetic cause and sometimes a family history of dementia." "" + "inherited prion disease" "An instance of prion disease that is caused by an inherited modification of the individual's genome." "" + "miscellaneous movement disorder due to genetic neurodegenerative disease" "True" + "Cri-du-chat syndrome" "Monosomy 5p, also known as Cri du chat syndrome, is a rare autosomal deletion syndrome characterized by a mewing cry (cri du chat) in infancy, multiple congenital anomalies, intellectual disability, microcephaly, and facial dysmorphism." "" + "partial deletion of the short arm of chromosome 5" "" + "syndromic epicanthus" "" + "chromosomal anomaly with cataract" "True" + "Crouzon syndrome" "Crouzon disease is characterized by craniosynostosis and facial hypoplasia." "" + "syndromic craniosynostosis" "A craniosynostosis that is part of a larger syndrome." "" + "cryofibrinogenemia, familial primary" "" + "cryofibrinogenemia" "" + "Cryoglobulinemic vasculitis" "Mixed cryoglobulinemia (MC) is a rare multisystem disease characterized by the presence of circulating cryoprecipitable immune complexes in the serum, manifested clinically by a classical triad of purpura, weakness and arthralgia." "" + "immune complex mediated vasculitis" "" + "secondary interstitial lung disease in childhood and adulthood associated with a systemic vasculitis" "True" + "cryptotia, familial" "" + "cryptomicrotia-brachydactyly-excess fingertip arch syndrome" "Cryptomicrotia - brachydactyly - excess fingertip arch syndrome describes a combination of malformations that include bilateral cryptomicrotia, brachytelomesophalangy with short middle and distal phalanges of digits 2 through 5, hypoplastic toenails and excess fingertip arch patterns, and has been reported in one family (mother and son). Cryptomicrotia - brachydactyly - excess fingertip arch syndrome is thought to follow an autosomal dominant transmission. There have been no further descriptions in the literature since 1988." "" + "isolated cryptophthalmia" "Isolated cryptophtalmia is a congenital abnormality in which the eyelids are absent and skin covers the ocular bulb, which is often microphthalmic. Six cases of complete bilateral crytophthalmia have been described. Transmission is autosomal dominant." "" + "cryptophthalmia" "A congenital abnormality characterized by the presence of a continuous layer of skin extending over the eyeballs and the absence of eyelids and the palpebral fissure." "" + "cutis laxa, autosomal dominant 1" "Any autosomal dominant cutis laxa in which the cause of the disease is a mutation in the ELN gene." "" + "autosomal dominant cutis laxa" "Autosomal dominant cutis laxa (ADCL) is a connective tissue disorder characterized by wrinkled, redundant and sagging inelastic skin associated in some cases with internal organ involvement." "" + "Beare-Stevenson cutis gyrata syndrome" "Cutis Gyrata-Acanthosis nigricans-craniosynthosis also known as Beare-Stevenson syndrome (BSS) is a severe form of syndromic craniosynostosis, characterized by a variable degree of craniosynostosis, with cloverleaf skull reported in over 50% of cases, cutis gyrata, corduroy-like linear striations in the skin, acanthosis nigricans, skin tags, and choanal stenosis or atresia. Additional features include facial features similar to Crouzon disease, ear defects (conductive hearing loss, posteriorly angulated ears, stenotic auditory canals, preauricular furrows, and narrow ear canals), hirsutism, a prominent umbilical stump, and genitorurinary anomalies (anteriorly placed anus, hypoplasic labia, hypospadias). BSS is associated with a poor outcome as patients present an elevated risk for sudden death in their first year of life. Significant developmental delay and intellectual disability are observed in most patients who survive infancy." "" + "Cyprus facial-neuromusculoskeletal syndrome" "Cyprus facial-neuromusculoskeletal syndrome is an exceedingly rare, genetic malformation syndrome characterized by a striking facial appearance, variable skeletal deformities, and neurological defects." "" + "Gorham-Stout disease" "Gorham-Stout disease (GSD) is a rare disease of massive osteolysis associated with proliferation and dilation of lymphatic vessels. GSD may affect any bone in the body and can be monostotic or polyostotic. Symptoms at presentation are dependent upon the location(s) of the disease; the most common symptom is localized pain. The disease may be discovered after a pathological fracture." "" + "congenital vascular bone syndrome" "An alteration in limb growth caused by congenital vascular malformations in childhood" "" + "mitochondrial complex III deficiency nuclear type 1" "Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the BCS1L gene." "" + "mitochondrial complex III deficiency" "Isolated complex III deficiency is a rare, genetic, mitochondrial oxidative phosphorylation disorder characterized by a wide spectrum of clinical manifestations ranging from isolated myopathy or transient hepatopathy to severe multisystem disorder (that may include hypotonia, failure to thrive, psychomotor delay, cardiomyopathy, encephalopathy, renal tubulopathy, hearing impairment, lactic acidosis, hypoglycemia and other signs and symptoms)." "" + "mitochondrial complex III deficiency, nuclear type" "" + "Balkan nephropathy" "A chronic tubulointerstitial nephropathy that affects people in certain rural areas along the Danube river in the Balkans. It leads to end-stage renal disease." "" + "Darier disease" "Darier disease (DD) is a keratinization disorder characterized by the development of keratotic papules in seborrheic areas and specific nail anomalies." "" + "Darwinian tubercle of pinna" "" + "obsolete Darwinian tubercle of pinna" "" "true" + "autosomal dominant deafness - onychodystrophy syndrome" "Dominant deafness-onychodystrophy (DDOD) syndrome is a multiple congenital anomalies syndrome characterized by congenital hearing impairment, small or absent nails on the hands and feet, and small terminal phalanges." "" + "deafness-onychodystrophy syndrome" "Deafness-onychodystrophy syndrome is a group of rare, genetic, developmental defect during embryogenesis disorders characterized by the association of sensorineural deafness and onychodystrophy (e.g. absent/hypoplastic finger and toenails), as well as brachydactyly and finger-like thumbs. Additional features present in one of the diseases comprising this group include osteodystrophy, intellectual disability, seizures, developmental delay, and distinctive facies." "" + "deafness-ear malformation-facial palsy syndrome" "Deafness-ear malformation-facial palsy syndrome is characterized by profound conductive deafness due to stapedial abnormalities associated with variable malformations of the external ears and facial paralysis. It has been described in three sibs and their mother. Inheritance is autosomal dominant." "" + "keratoderma hereditarium mutilans" "" + "autosomal dominant diffuse mutilating palmoplantar keratoderma" "" + "deafness, mid-tone neural" "" + "autosomal dominant nonsyndromic hearing loss 1" "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the DIAPH1 gene." "" + "autosomal dominant nonsyndromic hearing loss" "Autosomal dominant form of nonsyndromic deafness." "" + "deafness, sensorineural, with peripheral neuropathy and arterial disease" "" + "deafness, unilateral" "" + "deafness with anhidrotic ectodermal dysplasia" "" + "deafness-craniofacial syndrome" "Deafness-craniofacial syndrome is characterised by the association of congenital hearing loss and facial dysmorphism (facial asymmetry, a broad nasal root and small nasal alae). It has been described in two members (father and daughter) of one Jewish family. Temporal alopecia was also noted. Transmission appeared to be autosomal dominant." "" + "optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy" "" + "autosomal dominant optic atrophy plus syndrome" "Autosomal dominant optic atrophy plus syndrome (ADOA plus) is a variant of autosomal dominant optic atrophy (ADOA) associating the typical optic atrophy with other extra-ocular manifestations such as sensorineural deafness, myopathy, chronic progressive external ophthalmoplegia, ataxia and peripheral neuropathy. More rarely, other manifestations have been associated with this condition, such as spastic paraplegia, multiple-sclerosis like illness." "" + "dens evaginatus" "" + "dens in dente and palatal invaginations" "" + "leukodystrophy" "Leukodystrophies are a group of rare, progressive, metabolic, genetic diseases that affect the brain, spinal cord and often the peripheral nerves. Each type of leukodystrophy is caused by a specific gene abnormality that leads to abnormal development or destruction of the white matter (myelin sheath) of the brain. The myelin sheath is the protective covering of the nerve and nerves can't function normally without it. Each type of leukodystrophy affects a different part of the myelin sheath, leading to a range of neurological problems." "" + "dementia/parkinsonism with non-Alzheimer amyloid plaques" "" + "primary failure of tooth eruption" "" + "dentatorubral-pallidoluysian atrophy" "Dentatorubral pallidoluysian atrophy (DRPLA) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by involuntary movements, ataxia, epilepsy, mental disorders, cognitive decline and prominent anticipation." "" + "autosomal dominant cerebellar ataxia type IV" "" + "dentin dysplasia type I" "Dentin dysplasia type I (DD-I) is a rare form of dentin dysplasia (DD) characterized by sharp conical short roots or rootless teeth." "" + "dentin dysplasia" "Dentin dysplasia (DD) is a rare disorder belonging to the group of hereditary dentin defects and is characterized by abnormal dentin structure and root development resulting in abnormal tooth development. It encompasses two subtypes: DD type I and DD type II." "" + "dentin dysplasia type II" "Dentin dysplasia type II (DD-II) is a rare mild form of dentin dysplasia (DD) characterized by normal tooth roots but abnormal primary dentition." "" + "dentin dysplasia-sclerotic bones syndrome" "Dentin dysplasia-sclerotic bones syndrome is a rare, genetic odontologic disease characterized by the clinical, radiographic, and histologic features of dentine dysplasia and osteosclerosis of all long bones, with heavy cortical bone and narrowed or occluded marrow spaces. There have been no further descriptions in the literature since 1977." "" + "deoxyribose-5-phosphate aldolase deficiency" "" + "major affective disorder 1" "" + "dentinogenesis imperfecta type 2" "Dentinogenesis imperfecta type 2 (DGI-2) is a rare, severe form of dentinogenesis imperfecta (DGI) and is characterized by weakness and discoloration of all teeth." "" + "dentinogenesis imperfecta" "Dentinogenesis imperfecta (DGI) is a hereditary dentin defect characterized by abnormal dentin structure resulting in abnormal tooth development." "" + "dentinogenesis imperfecta type 3" "Dentinogenesis imperfecta type 3 (DGI-3) is a rare, severe form of dentinogenesis imperfecta (DGI) characterized by opalescent primary and permanent teeth, marked attrition, large pulp chambers, multiple pulp exposure and shell teeth radiographically (i.e. teeth which appear hollow due to dentin hypotrophy)." "" + "congenital unilateral hypoplasia of depressor anguli oris" "Congenital unilateral hypoplasia of depressor anguli oris is a congenital anomaly, characterized by the unilateral hypoplasia/agenesis of the depressor anguli oris muscle, resulting in an asymmetric crying facies in neonatal period/ infancy (drooping of one corner of the mouth during crying) while eye closure, nasolabial fold and forehead wrinkling are symmetric. While it can be isolated, this anomaly is also seen in 22q11.2 deletion syndrome and can be accompanied by other major congenital anomalies of the cardiovascular system, as well as less frequently the musculoskeletal, cervicofacial, respiratory, genitourinary, and, rarely, endocrine systems. When isolated, the condition is cosmetically insignificant as the infant gets older (as the muscle does not contribute significantly to facial expression in childhood/ adulthood)." "" + "22q11.2 deletion syndrome" "22q11.2 deletion syndrome (DS) is a chromosomal anomaly which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency." "" + "dermal Ridges, patternless" "" + "dermatopathia pigmentosa reticularis" "" + "dermatosis papulosa nigra" "A benign skin condition commonly seen in dark-skinned individuals that is characterized by multiple small hyperpigmented papular lesions resembling seborrheic keratosis on the face and upper body." "" + "autosomal dominant vibratory urticaria" "An autosomal dominant disease characterized by localized hives and systemic manifestations in response to dermal vibration, with coincident degranulation of mast cells and increased histamine levels in serum." "" + "familial dermatographia" "Familial dermographism is a condition also known as skin writing. When people who have dermatographia lightly scratch their skin, the scratches redden into a raised wheal similar to hives. Signs and symptoms of dermatographia include raised red lines, swelling, inflammation, hive-like welts and itching. Symptoms usually disappear within 30 minutes. The exact cause of this condition is unknown. Treatment mayinvovle use of antihistamines if symptoms do not go away on their own." "" + "dermo-odonto dysplasia" "Dermo-odonto dysplasia belongs to the group of tricho-odonto-onychial dysplasias. It is characterised by signs of variable severity: dry and thin skin, dental anomalies, nail alteration and trichodysplasia. Fourteen cases have been described so far. Autosomal dominant transmission is likely." "" + "neurohypophyseal diabetes insipidus" "Hereditary central diabetes insipidus is a rare genetic subtype of central diabetes insipidus (CDI) characterized by polyuria and polydipsia due to a deficiency in vasopressin (AVP) synthesis." "" + "central diabetes insipidus" "Central diabetes insipidus (CDI) is a hypothalamus-pituitary disease characterized by polyuria and polydipsia due to a vasopressin (AVP) deficiency. It can be inherited or acquired (hereditary CDI and acquired CDI)." "" + "diabetes insipidus, nephrogenic, autosomal" "" + "nephrogenic diabetes insipidus" "Nephrogenic diabetes insipidus (NDI) is characterized by polyuria with polydipsia, recurrent bouts of fever, constipation, and acute hypernatremic dehydration after birth that may cause neurological sequelae. Polyuria may exceed 10 litres in children." "" + "maturity-onset diabetes of the young type 1" "Monogenic diabetes caused by inactivating mutation(s) in the gene HNF4A, encoding hepatocyte nuclear factor 4-alpha." "" + "maturity-onset diabetes of the young" "MODY (maturity-onset diabetes of the young) is a rare, familial, clinically and genetically heterogeneous form of diabetes characterized by young age of onset (generally 10-45 years of age) with maintenance of endogenous insulin production, lack of pancreatic beta-cell autoimmunity, absence of obesity and insulin resistance and extra-pancreatic manifestations in some subtypes." "" + "maturity-onset diabetes of the young type 2" "Monogenic diabetes caused by inactivating mutation(s) in the GCK gene, encoding glucokinase. Heterozygous GCK mutations may manifest as mild hyperglycemia, which is not progressive, and usually requires no treatment. Homozygous GCK mutations result in permanent neonatal diabetes." "" + "type 1 diabetes mellitus 2" "Any type 1 diabetes mellitus in which the cause of the disease is a mutation in the INS gene." "" + "obsolete diabetes mellitus, noninsulin-dependent" "" "true" + "diarrhea, glucose-stimulated secretory, with common variable immunodeficiency" "" + "diastema, dental medial" "" + "digitotalar dysmorphism; ulnar drift, hereditary" "" + "dilution, pigmentary" "" + "discrimination, Two-point, reduction 1N" "" + "short stature-valvular heart disease-characteristic facies syndrome" "Short stature-valvular heart disease-characteristic facies syndrome is characterised by severe short stature with disproportionately short legs, small hands, clinodactyly, valvular heart disease and dysmorphism (ptosis, high-arched palate, abnormal dentition). It has been described in a mother and two daughters. This syndrome is probably transmitted as an autosomal dominant trait." "" + "multiple sclerosis, susceptibility to" "" + "distal osteosclerosis" "" + "obsolete isolated distichiasis" "Isolated distichiasis is a rare congenital eyelid anomaly characterized by an accessory row of eyelashes (that may be partial or complete) posterior to the normal row of cilia, at or close to the meibomian gland orifices, that is not associated with any other condition, and that may lead to ocular irritation and corneal damage if left untreated." "" "true" + "distichiasis with congenital anomalies of the heart and peripheral vasculature" "" + "DNA, satellite, 3" "" + "DNA, low-repetitive sequences of" "" + "obsolete DNA, satellite, alpha type" "" "true" + "double nail for fifth toe" "" + "calvarial doughnut lesions-bone fragility syndrome" "This syndrome is characterised by multiple doughnut-shaped hyperostotic or osteosclerotic lesions of the calvaria." "" + "primary bone dysplasia with decreased bone density" "True" + "Doyne honeycomb retinal dystrophy" "Doyne honeycomb retinal dystrophy (DHRD) is a condition that affects the eyes and causes vision loss. It is characterized bysmall, round, white spots known as drusen that accumulate beneath the retinal pigment epithelium(the pigmented layer of the retina). Over time, drusen may grow and come together, creating a honeycomb pattern. It usually begins in early to mid adulthood, but the age of onset varies.The degree of vision loss also varies. DHRD is usually caused by mutations in the EFEMP1 gene and is inherited in an autosomal dominant manner." "" + "familial flecked retinopathy" "" + "disease predisposing to age-related macular degeneration" "" + "basal laminar drusen" "A retinal drusen characterized by yellow-white deposits (drusen) that accumulate beneath the retinal pigment epithelium on Bruch membrane and that has material basis in mutations in the CFH gene on chromosome 1q31.3." "" + "Duane retraction syndrome" "Duane retraction syndrome (DRS) is a congenital form of strabismus characterized by horizontal eye movement limitation, globe retraction and palpebral fissure narrowing in attempted adduction. It is caused by a failure of development of the abducens nerve and can lead to amblyopia." "" + "nuclear oculomotor paralysis" "" + "cranial nerve and nuclear aplasia" "" + "duodenal ulcer due to antral G-cell hyperfunction" "" + "duodenal ulcer, hyperpepsinogenemic 1" "" + "familial Dupuytren contracture" "Familial Dupuyren contracture is a rare, genetic, epidermal disease characterized by a, usually unilateral, progressive thickening and shortening of the palmar fascia, leading to permanent flexion contracture of the digits in several members of a family. It most commonly affects the fourth digit, followed by the fifth and then the third (first and second digits are usually spared)." "" + "3-M syndrome" "3M syndrome is a primordial growth disorder characterized by low birth weight, reduced birth length, severe postnatal growth restriction, a spectrum of minor anomalies (including facial dysmorphism) and normal intelligence." "" + "malformation syndrome with short stature" "True" + "slender bone dysplasia" "" + "autosomal dominant Kenny-Caffey syndrome" "An autosomal dominant form of Kenny-Caffey Syndrome due to mutation(s) in the FAM111A gene, encoding protein FAM111A. This condition is characterized by transient hypocalcemia, delayed closure of the anterior fontanel, eye anomalies, including microphthalmia, proportionate short stature, and cortical thickening and medullary stenosis of the tubular bones." "" + "Kenny-Caffey syndrome" "A genetic condition characterized by long bone sclerosis and thickening, short stature, and head and eye anomalies. Many affected individuals have hypoparathyroidism with hypocalcemia." "" + "dwarfism, Levi type" "" + "dwarfism with stiff joints and ocular abnormalities" "" + "Leri-Weill dyschondrosteosis" "LC)ri-Weill dyschondrosteosis (LWD) is a skeletal dysplasia marked by disproportionate short stature and the characteristic Madelung wrist deformity." "" + "dyschondrosteosis-nephritis syndrome" "Dyschondrosteosis - nephritis is characterized by the association of short stature due to mesomelic shortening of the limbs and Madelung deformity, with hereditary nephritis." "" + "dyschromatosis symmetrica hereditaria" "Acropigmentation of Dohi is a genodermatosis characterised by the presence of hyperpigmented and hypopigmented macules, principally located on the extremities and limbs." "" + "obsolete dyschromatosis universalis" "" "true" + "dyskeratosis congenita, autosomal dominant 1" "A dyskeratosis congenita that has material basis in an autosomal dominant mutation of TERC on chromosome 3q26.2." "" + "dyskeratosis congenita" "Dyskeratosis congenita (DC) is a rare ectodermal dysplasia that often presents with the classic triad of nail dysplasia, skin pigmentary changes, and oral leukoplakia associated with a high risk of bone marrow failure (BMF) and cancer." "" + "hereditary benign intraepithelial dyskeratosis" "A rare genetic disorder with an autosomal dominant pattern of inheritance with variable penetrance. It was initially described among Native Americans belonging to the Haliwa-Saponi tribe of northeastern North Carolina. It is caused by a duplication of chromosomal DNA at 4q35. Clinical signs present in early childhood and include asymptomatic plaques of the epibulbar conjunctivae and oral mucosa. Clinical progression of the plaques to malignancy has not been reported." "" + "dyslexia, susceptibility to, 1" "" + "Lewy body dementia" "A progressive form of dementia characterized by the presence of protein deposits called Lewy bodies in the midbrain and cerebral cortex, and loss of cholinergic and dopaminergic neurons. The signs and symptoms overlap with Alzheimer and Parkinson disease." "" + "dysplasia epiphysealis hemimelica" "Dysplasia epiphysealis hemimelica (DEH), or Trevor's disease, is a rare condition that most commonly affects the epiphysis (the end) of long bones in children. Early diagnosis and treatment are necessary to prevent joint dysfunction and deformity and may be surgical or non-surgical depending on the location and the symptoms. Due to the progressive nature of this disorder and the chance of worsening deformity, patients should be followed until skeletal maturity. The cause of dysplasia epiphysealis hemimelica is not known." "" + "carpotarsal osteochondromatosis" "Carpotarsal osteochondromatosis is a very rare primary bone dysplasia disorder characterized by abnormal bone proliferation and osteochondromas in the upper and lower limbs." "" + "dystelephalangy" "" + "early-onset generalized limb-onset dystonia" "A rare movement disorder characterized by involuntary, repetitive, sustained muscle contractions or postures involving one or more sites of the body." "" + "early-onset generalized dystonia" "" + "torsion dystonia 4" "DYT4 type primary dystonia is characterized by predominantly laryngeal dystonia (manifesting as whispering dysphonia) and cervical dystonia (manifesting as torticollis)." "" + "focal, segmental or multifocal dystonia" "A rare neurologic movement disorder characterized by sustained muscle contractions of a single body region, usually producing twisting and repetitive movements or abnormal postures or positions." "" + "obsolete episodic kinesigenic dyskinesia 1" "" "true" + "dystonia 5" "Autosomal dominant dopa-responsive dystonia (DYT5a) is a rare neurometabolic disorder characterized by childhood-onset dystonia that shows a dramatic and sustained response to low doses of levodopa (L-dopa) and that may be associated with parkinsonism at an older age." "" + "dopa-responsive dystonia" "Dopa-responsive dystonia (DRD) describes a group of neurometabolic disorders characterized by dystonia that typically shows diurnal fluctuations, that responds excellently to levodopa (L-dopa) and that is comprised of autosomal dominant dopa-responsive dystonia (DYT5a), autosomal recessive dopa-responsive dystonia (DYT5b) and dopa responsive dystonia due to sepiapterin reductase (SR) deficiency." "" + "disorder of pterin metabolism" "" + "GTP cyclohydrolase I deficiency" "A disease characterized by a deficiency in GTP cyclohydrolase I, which leads to a consequent reduction in BH4 and reduces the activity of three BH4-cofactor dependent enzymes - phenylalanine hydroxylase, tyrosine hydroxylase, and tryptophan hydroxylase. GTP cyclohydrolase I deficiency encompasses a spectrum of disease that includes autosomal dominant and autosomal recessive forms, with severity correlating with the residual enzyme activity. Individuals who are heterozygous for pathogenic variants in GCH1 have symptoms ranging from none (due to reduced penetrance) to dopa-responsive dystonia, which is the most common presentation in symptomatic cases, to rarer neurological presentations such as adult-onset \"benign\" parkinsonism, various types of focal dystonia, and symptoms simulating cerebral palsy or spastic paraplegia. Hyperphenylalaninemia is absent, and patients respond well to treatment with levodopa. Individuals who are homozygous or compound heterozygous for pathogenic variants in GCH1 typically present with hyperphenylalaninemia, often identified by newborn screening, and severe neurological features and due to very low or undetectable enzyme activity. Treatment with levodopa, BH4, and 5-hydroxytryptophan can improve the symptoms but does not prevent development of severe encephalopathy. Rare cases of GTP cyclohydrolase I deficiency with a phenotype that is intermediate in severity between dopa-responsive dystonia and the severe autosomal recessive form have also been described, supporting the existence a phenotypic spectrum of disease." "" + "dystonia 12" "Rapid-onset dystonia-parkinsonism (RDP) is a very rare movement disorder, characterized by the abrupt onset of parkinsonism and dystonia, often triggered by physical or psychological stress." "" + "inherited dystonia" "An instance of dystonic disorder that is caused by an inherited modification of the individual's genome." "" + "ATP1A3-associated neurological disorder" "Any neurological disorder in which the cause of the disease is a mutation in the ATP1A3." "" + "ear antitragus, tag at base of" "" + "ear exostoses" "" + "ear folding" "" + "preauricular fistulae, congenital" "" + "ear pits, posterior helical" "" + "ear without helix" "" + "microtia" "Microtia is a congenital malformation of the external ear, seen more frequently in males, that occurs sporadically or is inherited, that is characterized by unilateral (79-93% of cases, 60% of which involve the right ear) or bilateral small and abnormally shaped auricles and that is often associated with atresia or stenosis of the ear canal, attention deficit disorders and delayed language development. The variation in auricle size ranges from grade I, where the auricle is simply smaller than normal, to grade IV, also known as anotia, where there is a complete absence of the external ear and of the auditory canal." "" + "thickened earlobes-conductive deafness syndrome" "Thickened earlobes-conductive deafness syndrome is characterized by microtia with thickened ear lobes, micrognathia and conductive hearing loss due to congenital ossicular anomalies. It has been described in two families. The mode of inheritance is autosomal dominant." "" + "earring holes, natural" "" + "obsoleted echo virus 11 sensitivity" "" "true" + "absence of fingerprints-congenital milia syndrome" "Absence of fingerprints-congenital milia syndrome is characterized by neonatal blisters and milia (small white papules, especially on the face) and congenital absence of dermatoglyphics on the hands and feet. It has been reported in two kindreds (one of which contained 13 affected individuals spanning three generations) and in an unrelated individual. Some affected patients also showed bilateral partial flexion contractures of the fingers and toes, and webbing of the toes. The syndrome is inherited as an autosomal dominant trait." "" + "Rapp-Hodgkin syndrome" "A form of ectodermal dysplasia characterized by the association of anhidrotic ectodermal dysplasia with cleft lip/palate." "" + "ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant" "" + "autosomal dominant hypohidrotic ectodermal dysplasia" "Autosomal dominant form of hypohidrotic ectodermal dysplasia." "" + "Clouston syndrome" "Clouston syndrome (or hidrotic ectodermal dysplasia) is characterised by the clinical triad of nail dystrophy, alopecia, and palmoplantar hyperkeratosis." "" + "ectodermal dysplasia, trichoodontoonychial type" "Ectodermal dysplasia, trichoodontoonychial type is a form of ectodermal dysplasia with hair, teeth and nail involvement characterized predominantly by hypodontia, hypotrichosis, delayed hair growth and brittle nails. Additionally, focal dermal hypoplasia, irregular hyperpigmentation, hypoplastic or absent nipples, amastia, hearing impairment, congenital hip dislocation and asthma have been associated. There have been no further descriptions in the literature since 1996." "" + "ectodermal dysplasia syndrome with distinctive facial appearance and preaxial polydactyly of feet" "" + "ectodermal dysplasia with adrenal cyst" "" + "ectopia lentis 1, isolated, autosomal dominant" "Any isolated ectopia lentis in which the cause of the disease is a mutation in the FBN1 gene." "" + "isolated ectopia lentis" "Isolated ectopia lentis (IEL) is a rare, clinically variable, eye disorder characterized by dislocation of the lens, often causing significant reduction in visual acuity." "" + "ectopia pupillae" "" + "ectrodactyly and ectodermal dysplasia without cleft lip/palate" "" + "ectrodactyly-cleft palate syndrome" "" + "edema, familial idiopathic, prepubertal" "" + "Edinburgh malformation syndrome" "Edinburgh malformation syndrome is a rare, genetic, lethal, multiple congenital anomalies/dysmorphic syndrome characterized by consistently abnormal facial appearance, true or apparent hydrocephalus, motor and cognitive developmental delay, failure to thrive (feeding difficulties, vomiting, chest infections) and death within a few months of birth. Carp mouth, hairiness of the forehead, neonatal hyperbilirubinemia and advanced bone age may also be associated. There have been no further descriptions in the literature since 1991." "" + "genetic lethal multiple congenital anomalies/dysmorphic syndrome" "An instance of lethal multiple congenital anomalies/dysmorphic syndrome that is caused by an inherited modification of the individual's genome." "" + "ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1" "An EEC syndrome characterized by autosomal dominant inheritance that has material basis in variation in the chromosome region 7q11.2-q21.3." "" + "EEC syndrome" "EEC syndrome is a genetic developmental disorder characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefts (cleft lip/palate)." "" + "obsolete egasyn" "" "true" + "Ehlers-Danlos syndrome, classic type" "Ehlers-Danlos syndrome, classic type (cEDS) is a form of Ehlers-Danlos syndrome that affects the connective tissue and is characterized by skin hyperextensibility, widened atrophic scars and joint hypermobility." "" + "syndromic diaphragmatic or abdominal wall malformation" "A diaphragmatic or abdominal wall malformation that is part of a larger syndrome." "" + "syndromic diaphragmatic or thoracic malformation" "" + "Ehlers-Danlos syndrome" "The Ehlers–Danlos syndromes (EDS) are a clinically and genetically heterogeneous group of heritable connective tissue disorders (HCTDs) characterized by joint hypermobility, skin hyperextensibility, and tissue fragility." "" + "Ehlers-Danlos syndrome, hypermobility type" "Ehlers-Danlos syndrome, hypermobility type (HT-EDS) is the most frequent form of EDS, a group of hereditary connective tissue diseases, and is characterized by joint hyperlaxity, mild skin hyperextensibility, tissue fragility and extra-musculoskeletal manifestations." "" + "autosomal dominant Ehlers-Danlos syndrome, vascular type" "The autosomal dominant form of the vascular type of Ehlers-Danlos syndrome. vEDS is almost always inherited in an autosomal dominant manner but rare examples of biallelic inheritance have been reported." "" + "Ehlers-Danlos syndrome, arthrochalasis type" "Arthrochalasia Ehlers-Danlos syndrome (aEDS) is an inherited connective tissue disorder that is caused by defects in a protein called collagen. Common symptoms include severe joint hypermobility ; congenital hip dislocation; fragile, hyperextensible skin; hypotonia ; and kyphoscoliosis (kyphosis and scoliosis). EDS, arthrochalasia type is caused by changes (mutations) in the COL1A1 gene or the COL1A2 gene and is inherited in an autosomal dominant manner. Treatment and management is focused on preventing serious complications and relieving associated signs and symptoms." "" + "Ehlers-Danlos syndrome progeroid type" "Ehlers-Danlos syndrome, progeroid type (EDS-PF) is a form of Ehlers-Danlos syndrome characterized by a premature aging with sparse hair, macrocephaly, loose elastic skin, failure to thrive, joint laxity, psychomotor retardation, hypotonia, and defective wound healing with atrophic scars." "" + "congenital disorder of glycosylation with skin involvement" "True" + "Ehlers-Danlos syndrome, periodontitis type" "Ehlers-Danlos syndromes (EDS) form a heterogeneous group of hereditary connective tissue diseases characterized by joint hyperlaxity, cutaneous hyperelasticity and tissue fragility." "" + "Ehlers-Danlos syndrome, autosomal dominant, type unspecified" "" + "elastosis perforans serpiginosa" "" + "electroencephalographic peculiarity: 14 and 6 per sec. positive spike phenomenon" "" + "electroencephalographic peculiarity: fronto-precentral beta wave groups" "" + "Electroencephalographic peculiarity: occipital slow beta waves" "" + "elliptocytosis 2" "Any hereditary elliptocytosis in which the cause of the disease is a mutation in the SPTA1 gene." "" + "hereditary elliptocytosis" "Hereditary elliptocytosis (HE) is a rare clinically and genetically heterogeneous disorder of the red cell membrane characterized by manifestations ranging from mild to severe transfusion-dependent hemolytic anemia but with the majority of patients being asymptomatic." "" + "Beckwith-Wiedemann syndrome" "Beckwith-Wiedemann syndrome (BWS) is a genetic disorder characterized by overgrowth, tumor predisposition and congenital malformations." "" + "inherited renal cancer-predisposing syndrome" "" + "overgrowth syndrome" "A group of syndromes caused by genetic birth defects that may lead to the development of malignancies. It is characterized by a large body size or large body parts at birth, or excessive body growth early in childhood. Representative examples include neurofibromatosis, Beckwith-Wiedemann syndrome, and Sturge-Weber syndrome." "" + "macroglossia" "The presence of an excessively large tongue, which may be congenital or may develop as a result of a tumor or edema due to obstruction of lymphatic vessels, or it may occur in association with hyperpituitarism or acromegaly. It also may be associated with malocclusion because of pressure of the tongue on the teeth. (From Jablonski, Dictionary of Dentistry, 1992)" "" + "emphysema, hereditary pulmonary" "" + "congenital lobar emphysema" "Congenital lobar emphysema (CLE) is a respiratory abnormality characterized by respiratory distress due to hyperinflation of one or more affected lobes of the lung." "" + "respiratory malformation" "" + "respiratory or mediastinal malformation" "" + "non-syndromic respiratory or mediastinal malformation" "A respiratory or mediastinal malformation that is not part of a larger syndrome." "" + "lateral meningocele syndrome" "" + "amelogenesis imperfecta, type 3A" "Any amelogenesis imperfecta in which the cause of the disease is a mutation in the FAM83H gene." "" + "encephalopathy, recurrent, of childhood" "" + "multiple endocrine neoplasia type 1" "Multiple endocrine neoplasia Type 1 (MEN1) is a frequent form of MEN, a rare inherited cancer syndrome, characterized by the development of neuroendocrine tumors of the parathyroid, pancreas, and anterior pituitary gland, and less commonly the adrenal cortical gland, with other non-endocrine tumors in some patients." "" + "multiple endocrine neoplasia" "Multiple endocrine neoplasia (MEN) is a group of rare inherited cancer syndromes characterized by the development of two or more endocrine gland tumors, sometimes with tumor development in other tissues or organs." "" + "familial primary hyperparathyroidism" "An instance of primary hyperparathyroidism (disease) that is caused by an inherited modification of the individual's genome." "" + "inherited digestive cancer-predisposing syndrome" "" + "endometriosis, susceptibility to, 1" "" + "Camurati-Engelmann disease" "Camurati-Englemann disease (CED) is a rare, clinically variable bone dysplasia syndrome characterized by hyperostosis of the long bones, skull, spine and pelvis, associated with severe pain in the extremities, a wide-based waddling gait, joint contractures, muscle weakness and easy fatigability." "" + "enolase, sperm specific" "" + "eosinophilia, familial" "Familial occurrence, with more than one generation being affected, of persistent eosinophilia, an increase in the number of eosinophils in the blood, in the absence of known causal factors." "" + "Eosinophilopenia" "" + "myeloproliferative disorder, chronic, with eosinophilia" "" + "myeloproliferative neoplasm, unclassifiable" "This subgroup of myeloproliferative neoplasms includes cases which do not meet the morphologic criteria of any of the defined myeloproliferative neoplasms, or which have characteristics that overlap at least two of the myeloproliferative neoplasms." "" + "epidermoid cysts" "The most common type of cutaneous cyst. It results from the proliferation of epidermal cells in a circumscribed space within the dermis. It is usually asymptomatic and presents as a firm, round nodule." "" + "transient bullous dermolysis of the newborn" "Transient bullous dermolysis of the newborn is a rare subtype of dystrophic epidermolysis bullosa (DEB) characterized by generalized blistering at birth that usually regresses within the first 6 to 24 months of life." "" + "generalized dominant dystrophic epidermolysis bullosa" "Generalized dominant dystrophic epidermolysis bullosa (DDEB-gen) is a subtype of dystrophic epidermolysis bullosa (DEB), formerly known as DDEB, Pasini and Cockayne-Touraine types, characterized by generalized blistering, milia formation, atrophic scarring, and dystrophic nails." "" + "epidermolysis bullosa simplex Dowling-Meara type" "Epidermolysis bullosa simplex, Dowling-Meara type (EBS-DM) is a basal subtype of epidermolysis bullosa simplex (EBS) characterized by the presence of generalized vesicles and small blisters in grouped or arcuate configuration." "" + "basal epidermolysis bullosa simplex" "A form of epidermolysis bullosa simplex in which blistering occurs within the basal keratinocytes." "" + "localized epidermolysis bullosa simplex" "Localized epidermolysis bullosa simplex, formerly known as EBS, Weber-Cockayne, is a basal subtype of epidermolysis bullosa simplex (EBS). The disease is characterized by blisters occurring mainly on the palms and soles, exacerbated by warm weather." "" + "pretibial dystrophic epidermolysis bullosa" "Pretibial dystrophic epidermolysis bullosa is a rare subtype of dystrophic epidermolysis bullosa (DEB) characterized by the development of blisters, erosions, and lichenoid lesions predominantly in the pretibial region." "" + "epidermolysis bullosa with deficiency of galactosylhydroxylysyl glucosyltransferase" "" + "generalized epidermolysis bullosa simplex, non-Dowling-Meara type" "Non-Dowling-Meara generalized epidermolysis bullosa simplex, formerly known as epidermolysis bullosa simplex, Kobner type (EBS-K) is a generalized basal subtype of epidermolysis bullosa simplex (EBS) characterized by non-herpetiform blisters and erosions arising in particular at sites of friction." "" + "epidermolysis bullosa simplex Ogna type" "Epidermolysis bullosa simplex, Ogna type (EBS-O) is a basal subtype of epidermolysis bullosa simplex (EBS) characterized by sometimes widespread, primarily acral blistering." "" + "epidermolysis bullosa simplex with mottled pigmentation" "Epidermolysis bullosa simplex with mottled pigmentation (EBS-MP) is a basal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized blistering with mottled or reticulate brown pigmentation." "" + "epidermolysis bullosa with congenital localized absence of skin and deformity of nails" "" + "benign occipital epilepsy" "Benign occipital epilepsy is a rare, genetic neurological disorder characterized by visual seizures and occipital epileptiform paroxysms reactive to ocular opening which present in infancy to mid-adolescence. Vomiting, tonic eye deviation and impairment of consciousness are typically associated with the Panayiotopoulos type, while visual hallucinations, ictal blindness and post-ictal headache are commonly observed in the Gastaut type. Electroencephalographic findings in both types are similar and include bilateral, synchronous, high voltage spike-wave complexes in a normal background activity located predominantly in the occipital lobes." "" + "childhood-onset epilepsy syndrome" "A epilepsy syndrome that occurs during childhood." "" + "photoparoxysmal response 1" "" + "photosensitive epilepsy" "An epilepsy characterized by seizures triggered by visual stimuli that form patterns in space or time, such as flashing lights." "" + "reading seizures" "" + "multiple epiphyseal dysplasia type 1" "Multiple epiphyseal dysplasia type 1 (MED 1) is a form of multiple epiphyseal dysplasia that is characterized by normal or mild short stature, pain in the hips and/or knees, progressive deformity of extremities and early-onset osteoarthrosis. Specific features to MED 1 include a more pronounced involvement of hip joints and gait abnormality and a shorter adult height. MED1 is allelic to pseudoachondroplasia with which it shares clinical and radiological features. The disease follows an autosomal dominant mode of transmission." "" + "multiple epiphyseal dysplasia" "Multiple epiphyseal dysplasias (MED/EDMs) are characterized by epiphyseal anomalies causing joint pain early in life, recurrent osteochondritis and early arthrosis. The EDMs are a heterogeneous group of diseases with variable expression classed as MED/EDMs 1-6." "" + "multiple epiphyseal dysplasia, Beighton type" "Multiple epiphyseal dysplasia, Beighton type is a skeletal dysplasia characterized by epiphyseal dysplasia (usually mild) associated with progressive myopia, retinal thinning, crenated cataracts, conductive deafness, and stubby digits." "" + "obsolete epistaxis, hereditary" "" "true" + "pilomatrixoma" "Pilomatrixoma is a rare and benign hair cell-derived tumor occurring mostly in young adults (usually under the age of 20) and characterized as a 3-30 mm solitary, painless, firm, mobile, deep dermal or subcutaneous tumor, most commonly found in the head, neck or upper extremities. When superficial, the tumors tint the skin blue-red. Multiple pilomatrixomas are seen in myotonic dystrophy, Gardner syndrome, Rubinstein-Taybi syndrome, and Turner syndrome." "" + "familial cylindromatosis" "" + "Brooke-Spiegler syndrome" "Brooke-Spiegler syndrome (BSS) is an inherited predisposition syndrome presenting with skin appendage tumors, namely cylindromas, spiradenomas and trichoepitheliomas. A minority of patients can also get major and minor salivary glands neoplasms, usually membranous basal cell adenoma." "" + "multiple self-healing squamous epithelioma" "Multiple self-healing squamous epithelioma (also known as Ferguson-Smith disease (FSD)) is a rare inherited skin cancer syndrome characterized by the development of multiple locally invasive skin tumors resembling keratoacanthomas of the face and limbs which usually heal spontaneously after several months leaving pitted scars." "" + "benign tumor of palpebral epidermis" "A benign neoplasm that involves the skin of eyelid." "" + "obsolete Epstein-Barr virus insertion site 1" "" "true" + "aortic aneurysm, familial thoracic 4" "Any familial thoracic aortic aneurysm and aortic dissection in which the cause of the disease is a mutation in the MYH11 gene." "" + "familial thoracic aortic aneurysm and aortic dissection" "A rare genetic vascular disease characterized by the familial occurrence of thoracic aortic aneurysm, dissection or dilatation affecting one or more aortic segments (aortic root, ascending aorta, arch or descending aorta) in the absence of any other associated disease. Depending on the size, location and progression rate of dilatation/dissection, patients may be asymptomatic or may present dyspnea, cough, jaw, neck, chest or back pain, head, neck or upper limb edema, difficulty swallowing, voice hoarseness, pale skin, faint pulse and/or numbness/tingling in limbs. Patients have increased risk of presenting life threatening aortic rupture." "" + "erythema nodosum, familial" "" + "erythema palmare hereditarium" "A rare, benign, congenital genetic skin disorder characterized by permanent and asymptomatic erythema of the palmar and, less frequently, the solar surfaces. In most cases, it presents with sharply demarcated redness of the thenar and hypothenar eminences, as well as the palmar aspect of the phalanges, with scattered telangiectasia spots that do not cause any discomfort (pain, itching or burning) to the patient." "" + "primary erythermalgia" "Primary erythermalgia is characterized by intermittent attacks of red, warm, painful burning extremities. It spontaneously arises during early childhood and adolescence in the absence of any detectable underlying disorder." "" + "erythromelalgia" "A rare neurovascular peripheral pain disorder due to the intermittent blockage of the blood vessels, usually in the lower extremities or hands. This causes hyperemia and inflammation at the origin of burning pain and skin redness. The attacks are periodic and are commonly triggered by heat, pressure, mild activity, exertion, insomnia or stress. Erythromelalgia may occur either as a primary or secondary disorder. Primary erythromelalgia is caused by gene mutations. Secondary erythromelalgia can result from small fiber peripheral neuropathy of any cause, essential thrombocytemia, hypercholesterolemia, mushroom or mercury poisoning, and some autoimmune disorders." "" + "primary familial polycythemia due to EPO receptor mutation" "Primary familial polycythemia is an inherited hematological disorder resulting from mutations in the erythropoietin (EPO) receptor and is characterized by an elevated absolute red blood cell mass caused by uncontrolled red blood cell production in the presence of low EPO levels." "" + "acute erythroleukemia, familial" "An instance of acute erythroleukemia that is caused by an inherited modification of the individual's genome." "" + "acute erythroid leukemia" "An acute myeloid leukemia characterized by a predominant immature erythroid population. There are two subtypes recognized: erythroleukemia and pure erythroid leukemia. (WHO, 2001)" "" + "inherited acute myeloid leukemia" "An instance of acute myeloid leukemia that is caused by an inherited modification of the individual's genome." "" + "spinocerebellar ataxia type 34" "Spinocerebellar ataxia type 34 (SCA34) is a subtype of autosomal dominant cerebellar ataxia type I (ADCA type I), characterized by papulosquamous, ichthyosiform plaques on the limbs appearing shortly after birth and later manifestations including progressive ataxia, dysarthria, nystagmus and decreased reflexes." "" + "erythrokeratoderma" "" + "obsolete erythrokeratodermia variabilis" "" "true" + "esophageal ring, lower" "" + "esterase B" "" + "esterase C" "" + "esterase ES-2, regulator for" "" + "exchondrosis of pinna, posterior" "" + "obsolete Cockayne syndrome B" "" "true" + "exostoses of heel" "" + "exostoses-anetodermia-brachydactyly type E syndrome" "Exostoses-anetodermia-brachydactyly type E syndrome is an association reported in a single kindred characterized by the variable presence of the following features: anetodermia (macular atrophy of the skin), multiple exostoses, and brachydactyly type E. There have been no further descriptions in the literature since 1985." "" + "exostoses, multiple, type 1" "Any exostoses, multiple in which the cause of the disease is a mutation in the EXT1 gene." "" + "exostoses, multiple, type 2" "This gene is involved in the heparin/heparin sulfate biosynthesis, cell organization/biogenesis and development of the cytoskeleton in chondrocytes." "" + "external auditory canal atresia-vertical talus-hypertelorism syndrome" "" + "extrasystoles-short stature-hyperpigmentation-microcephaly syndrome" "Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome is a rare, genetic, malformation syndrome with short stature characterized by microcephaly, borderline intellectual disability, hyperpigmentation of the skin, short stature, and ventricular extrasystoles. Cardiac syncope may also be associated. There have been no further descriptions in the literature since 1975." "" + "exudative vitreoretinopathy 1" "" + "exudative vitreoretinopathy" "Familial exudative vitreoretinopathy (FEVR) is a rare hereditary vitreoretinal disorder characterized by abnormal or incomplete vascularization of the peripheral retina leading to variable clinical manifestations ranging from no effects to minor anomalies, or even retinal detachment with blindness." "" + "hemifacial hypertrophy" "Hemifacial hyperplasia is a rare morphological anomaly of the maxillofacial region characterized by unilateral overgrowth of all facial structures (bone, soft tissues, teeth), called true hemifacial hypertrophy, or overgrowth of one or more but not all facial structures, called partial hemifacial hypertrophy. It may be isolated or related to some syndromes (e.g. Beckwith-Wiedemann, Proteus, Klippel-Trenaunay-Weber, McCune-Albright syndrome, Neurofibromatosis type 1). It may be associated with airway obstruction, sensorineural hearing loss or swallowing difficulties." "" + "facial hypertrichosis" "" + "familial recurrent peripheral facial palsy" "" + "facial spasm" "" + "factor 5 excess with spontaneous thrombosis" "" + "inherited thrombophilia" "An instance of thrombophilia that is inherited." "" + "factor VII and Factor VIII, combined deficiency of" "" + "obsolete factor VIII deficiency" "" "true" + "factor VIII and Factor IX, combined deficiency of" "" + "factors VIII, IX and XI, combined deficiency of" "" + "factor 9 and Factor XI, combined deficiency of" "" + "primary Fanconi syndrome" "A condition in which the kidneys do not absorb certain substances into the body. These substances, such as cysteine, fructose, galactose, or glycogen, are lost in the urine. Fanconi syndrome is thought to be caused by genetic and environmental factors, and it may be diagnosed at any age. Symptoms of Fanconi syndrome include increased urine production (which may cause dehydration), weakness, and abnormalities of the bones." "" + "inherited Fanconi renotubular syndrome" "An instance of Fanconi renotubular syndrome that is inherited." "" + "familial Mediterranean fever, autosomal dominant" "" + "familial Mediterranean fever" "Familial Mediterranean fever (FMF) is an autoinflammatory disorder characterized by recurrent short episodes of fever and serositis resulting in pain in the abdomen, chest, joints and muscles." "" + "obsolete favism, susceptibility to" "" "true" + "Felty syndrome" "Felty syndrome (FS), also known as ''super rheumatoid'' disease, is a severe form of rheumatoid arthritis (RA), characterized by a triad of RA, splenomegaly and neutropenia, resulting in susceptibility to bacterial infections." "" + "acquired neutropenia" "An instance of neutropenia that is acquired during the lifetime of the individual." "" + "femoral-facial syndrome" "Femoral-facial syndrome is characterized by predominant femoral hypoplasia (bilateral or unilateral) and unusual facies." "" + "fibrinolytic defect" "" + "fibrodysplasia ossificans progressiva" "Fibrodysplasia ossificans progressiva (FOP) is a severely disabling heritable disorder of connective tissue characterized by congenital malformations of the great toes and progressive heterotopic ossification that forms qualitatively normal bone in characteristic extraskeletal sites." "" + "primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments" "True" + "Birt-Hogg-Dube syndrome" "Birt-Hogg-Dube (BHD) syndrome is characterized by skin lesions, kidney tumors, and pulmonary cysts that may be associated with pneumothorax. It is a rare clinicopathologic condition named after the three Canadian physicians who reported the syndrome in 1977." "" + "desmoid tumor" "A desmoid tumor (DT) is a benign, locally invasive soft tissue tumor associated with a high recurrence rate but with no metastatic potential." "" + "fibromatosis, gingival, 1" "Any gingival fibromatosis in which the cause of the disease is a mutation in the SOS1 gene." "" + "hereditary gingival fibromatosis" "Hereditary gingival fibromatosis (HGF) is a rare benign, slowly progressive, non-inflammatory fibrous hyperplasia of the maxillary and mandibular gingivae that generally occurs with the eruption of the permanent (or more rarely the primary) dentition or even at birth. It presents as a localized or generalized, smooth or nodular overgrowth of the gingival tissues of varying severity. It can be isolated, with autosomal dominant inheritance, or as part of a syndrome." "" + "gingival fibromatosis-hypertrichosis syndrome" "Gingival fibromatosis - hypertrichosis syndrome is a rare autosomal dominant disorder characterized by a generalized enlargement of the gingiva occurring at birth or during childhood that is associated with generalized hypertrichosis developing at birth, during the first years of life, or at puberty and predominantly affecting the face, upper limbs, and midback." "" + "obsolete Zimmermann-Laband syndrome" "" "true" + "gingival fibromatosis-progressive deafness syndrome" "Gingival fibromatosis-progressive deafness syndrome is characterized by gingival fibromatosis associated with progressive sensorineural hearing loss. It has been described in two families (with at least 16 affected members spanning five generations in one of the families, and five affected members spanning three generations in the other family). It is transmitted as an autosomal dominant trait." "" + "obsolete fibromuscular dysplasia of arteries" "" "true" + "congenital fibrosis of extraocular muscles" "" + "laurin-Sandrow syndrome" "Laurin-Sandrow syndrome (LSS) is characterised by complete polysyndactyly of the hands, mirror feet and nose anomalies (hypoplasia of the nasal alae and short columella), often associated with ulnar and/or fibular duplication (and sometimes tibial agenesis). It has been described in less than 20 cases. Some cases with the same clinical signs but without nasal defects have also been reported, and may represent the same entity. The etiology of LSS is unknown. Different modes of inheritance have been suggested." "" + "fibula, recurrent dislocation of head of" "" + "Coffin-Siris syndrome 1" "" + "Coffin-Siris syndrome" "Coffin-Siris syndrome (CSS) is a rare congenital multi-systemic genetic disorder characterized by aplasia or hypoplasia of the distal phalanx or nail of the fifth digit, developmental delay, intellectual disability, coarse facial features, and other variable clinical manifestations." "" + "autosomal dominant non-syndromic intellectual disability" "Autosomal dominant form of non-syndromic intellectual disability." "" + "Eng-Strom syndrome" "Eng-Strom syndrome is characterised by intrauterine growth retardation and intermittent locking of the finger joints. It has been described in two individuals: a mother and her daughter. The mode of transmission is autosomal dominant." "" + "isolated congenital adermatoglyphia" "Isolated congenital adermatoglyphia is a rare, genetic develomental defect during embryogenesis disorder characterized by the lack of epidermal ridges on the palms and soles, resulting in the absence of fingerprints, with no other associated manifestations. It is associated with a reduced number of sweat gland openings and reduced transpiration of palms and soles." "" + "fish eye disease" "Fish eye disease (FED) is a form of genetic LCAT (lecithin-cholesterol acyltransferase) deficiency characterized clinically by corneal opacifications, and biochemically by significantly reduced HDL cholesterol and partial LCAT enzyme deficiency." "" + "LCAT deficiency" "LCAT (lecithin-cholesterol acyltransferase) deficiency is a rare lipoprotein metabolism disorder characterized clinically by corneal opacities, and sometimes renal failure and hemolytic anemia, and biochemically by severely reduced HDL cholesterol." "" + "floating-Harbor syndrome" "Floating-Harbor syndrome is a genetic developmental disorder characterized by facial dysmorphism, short stature with delayed bone age, and expressive language delay." "" + "flood factor deficiency" "" + "flushing of ears and somnolence" "" + "Flynn-Aird syndrome" "Flynn-Aird syndrome is a neuroectodermal disorder involving the nervous, cutaneous, skeletal, and glandular systems. It has been described in 10 members from five generations of one family. Clinical manifestations include eye abnormalities (cataracts, retinitis pigmentosa, and myopia), sensorineural deafness, ataxia, peripheral neuritis, epilepsy, dementia, skin atrophy and striking dental caries. Patients also present with muscle wasting, joint stiffness and bone cysts. Flynn-Aird syndrome is transmitted as an autosomal dominant trait. It shows some similarities to the syndromes of Werner, Refsum and Cockayne." "" + "premature aging syndrome" "Changes in the organism associated with senescence, occurring at an accelerated rate." "" + "focal epithelial hyperplasia of the oral mucosa" "" + "familial congenital palsy of trochlear nerve" "An instance of fourth cranial nerve palsy that is caused by an inherited modification of the individual's genome." "" + "congenital trochlear nerve palsy" "" + "focal facial dermal dysplasia type I" "Focal facial dermal dysplasia type I (FFDD1), also known as Brauer syndrome, is a focal facial dysplasia (FFDD) characterized by congenital bitemporal cutis aplasia." "" + "focal facial dermal dysplasia" "Focal facial dermal dysplasias (FFDD) are rare ectodermal dysplasias, characterized by congenital bitemporal (resembling forceps marks) or preauricular scar-like lesions associated with additional facial and or systematic manifestations. 4 types of FFDD are described (FFDD I to IV). FFDD types II and III present with a variable facial dysmorphism including distichiasis (upper lashes) or lacking eyelashes, and upward slanting and thinned lateral eyebrows with a flattened nasal bridge and full upper lip. FFDD types I and IV are infrequently associated with extra-cutaneous anomalies." "" + "foveal hypoplasia 1" "Any foveal hypoplasia in which the cause of the disease is a mutation in the PAX6 gene." "" + "foveal hypoplasia" "" + "fragile site 10Q23" "" + "North Carolina macular dystrophy" "North Carolina macular dystrophy (NCMD) is a non-progressive autosomal dominant macular disorder of congenital or infantile onset characterized by loss of central vision, the accumulation of drusen in the macula and atrophy of photoreceptor cells with a variable phenotype at macular examination." "" + "chromosome 16p12.1 deletion syndrome, 520kb" "A condition caused by a 520 kb deletion at 16p12.1. It is characterized by developmental delay, craniofacial dysmorphology and congenital heart defects." "" + "obsolete fragile site, Distamycin a type, rare, fra(16)(q22.1)" "" "true" + "Friedreich ataxia, so-called, with optic atrophy and sensorineural deafness" "" + "intellectual disability, FRA12A type" "" + "Frasier syndrome" "Frasier syndrome is characterised by the association of male pseudohermaphrodism and glomerular nephropathy. This syndrome is associated with a high risk of developing gonadoblastoma." "" + "primary glomerular disease" "" + "frontorhiny" "Frontorhiny is a distinct syndromic type of frontonasal malformation characterized by hypertelorism, wide nasal bridge, broad columella, widened philtrum, widely separated narrow nares, poor development of nasal tip, midline notch of the upper alveolus, columella base swellings and a low hairline. Additional features reported in some include upper eyelid ptosis and midline dermoid cysts of craniofacial structures and philtral pits or rugose folding behind the ears. An autosomal recessive inheritance has been proposed." "" + "genetic head and neck malformation" "" + "frontonasal dysplasia" "A group of rare bone development disorders characterized by an array of abnormalities affecting the eyes, forehead, and nose, and linked to midfacial dysraphia. The clinical picture is highly variable, but the major findings include hypertelorism, a broad nasal root, a large and bifid nasal tip, and widow's peak. Occasionally, abnormalities can include accessory nasal tags, cleft lip, ocular abnormalities (coloboma, cataract, microphthalmia), conductive hearing loss, basal encephalocele and/or agenesis of the corpus callosum. Intellectual deficit is rare and more likely to occur in cases where hypertelorism is severe or where there is extra-cranial involvement." "" + "corneal dystrophy, Fuchs endothelial, 1" "Any Fuchs' endothelial dystrophy in which the cause of the disease is a mutation in the COL8A2 gene." "" + "fucosidase regulator" "" + "fundus albipunctatus" "Fundus albipunctatus is a rare, genetic retinal dystrophy characterized by the presence of numerous small, round, yellowish-white retinal lesions that are distributed throughout the retina but spare the fovea. Patients present in childhood with non-progressive night blindness with prolonged cone and rod adaptation times. The macula may or may not be involved, which may result in a decrease of central visual acuity with age." "" + "RDH5 retinopathy" "A retinopathy caused by bialleleic variants in the RDH5 gene, often involving flecks in the retina." "" + "RLBP1 retinopathy" "A retinopathy caused by bialleleic variants in the RLBP1 gene, often involving flecks in the retina." "" + "Sorsby fundus dystrophy" "A rare progressive autosomal dominant macular dystrophy, presenting between the third and sixth decades of life, characterized by retinal atrophy and retinal detachment and leading to loss of central vision, then peripheral vision, and eventually blindness." "" + "obsolete Futcher line" "" "true" + "isolated agenesis of gallbladder" "" + "gamma-A-globulin, defect in assembly of" "" + "IgAD1" "Decreased or absent levels of serum immunoglobulin A, with normal serum levels of immunoglobulin G and immunoglobulin M in a patient who is older than 4 years of age and in whom all other causes of hypogammaglobulinemia have been excluded. Affected individuals may be asymptomatic or have frequent infections, allergic reactions, or autoimmune disorders." "" + "gastric sneezing" "" + "Gamstorp-Wohlfart syndrome" "Autosomal recessive axonal neuropathy with neuromyotonia is a rare peripheral neuropathy characterized by slowly progressive axonal, motor greater than sensory polyneuropathy combined with neuromytonia (including spontaneous muscular activity at rest (myokymia), impaired muscle relaxation (pseudomyotonia), and contractures of hands and feet) and neuromyotonic or myokymic discharges on needle EMG. It presents with distal lower limb weakness with gait impairment, muscle stiffness, fasciculations and cramps in hands and legs worsened by cold, decreased to absent tendon reflexes, intrinsic hand muscle atrophy and, variably, mild distal sensory impairment." "" + "autosomal recessive axonal hereditary motor and sensory neuropathy" "Autosomal recessive form of axonal hereditary motor and sensory neuropathy." "" + "gastric volvulus, intrathoracic" "" + "hereditary diffuse gastric adenocarcinoma" "An autosomal dominant inherited adenocarcinoma that arises from the gastric mucosa and is characterized by the presence of poorly cohesive malignant cells and absence of glandular formations." "" + "genetic gastro-esophageal disease" "" + "gastric juice peptides" "" + "marginal zone lymphoma" "A usually indolent mature B-cell lymphoma, arising from the marginal zone of lymphoid tissues. It is characterized by the presence of small to medium sized atypical lymphocytes. It comprises three entities, according to the anatomic sites involved: extranodal marginal zone B-cell lymphoma of mucosa-associated lymphoid tissue, which affects extranodal sites (most often stomach, lung, skin, and ocular adnexa); nodal marginal zone B-cell lymphoma, which affects lymph nodes without evidence of extranodal disease; and splenic marginal zone B-cell lymphoma, which affects the spleen and splenic hilar lymph nodes, bone marrow, and often the peripheral blood." "" + "gastrocutaneous syndrome" "" + "gastric mucosal hypertrophy" "MC)nC)trier disease (MD) is a rare premalignant hyperproliferative gastropathy characterized by massive overgrowth of foveolar cells in the gastric lining, resulting in large gastric folds, and manifesting with epigastric pain, nausea, vomiting, peripheral edema and, less commonly, anorexia and weight loss." "" + "gastroesophageal disease" "" + "genochondromatosis" "" + "genu valgum, st. Helena familial" "" + "fissured tongue" "" + "Gerstmann-Straussler-Scheinker syndrome" "A very rare and fatal disorder of spongiform encephalopathy usually caused by mutations of the prion protein (PRNP) gene. It is characterized by the accumulation of amyloid in the brain. Signs and symptoms include lack of motor coordination, unsteady gait, and difficulty walking. As the disease progresses, patients develop speech difficulties and dementia." "" + "giant neutrophil leukocytes" "" + "obsolete spitz nevus" "A large, or giant, congenital melanocytic nevus (LCMN or GCMN) is a pigmented skin lesion of more than 20 cm - or 40 cm- respectively, projected adult diameter, composed of melanocytes, and presenting with an elevated risk of malignant transformation." "" "true" + "obsolete giant platelet syndrome with thrombocytopenia" "" "true" + "familial ossifying fibroma" "An instance of ossifying fibroma (disease) that is caused by an inherited modification of the individual's genome." "" + "Tourette syndrome" "A neurologic disorder caused by defective metabolism of the neurotransmitters in the brain. It is characterized by repeated involuntary movements (motor tics) and uncontrollable vocal sounds (vocal tics). The symptoms are usually manifested before the age of eighteen." "" + "anterior segment dysgenesis 4" "Any iridogoniodysgenesis in which the cause of the disease is a mutation in the PITX2 gene." "" + "iridogoniodysgenesis" "" + "Rieger anomaly" "Rieger's anomaly is a congenital ocular defect caused by anterior segment dysgenesis and is characterized by severe anterior chamber deformity with prominent strands and marked atrophy of the iris stroma, with hole or pseudo-hole formation and corectopia. The term covers the association of these iris and pupil anomalies with the features of AxenfeldBs anomaly." "" + "glaucoma with elevated episcleral venous pressure" "" + "hereditary glaucoma" "Hereditary glaucoma is a clinically diverse group of rare eye disorders with genetic predisposition characterized by elevated intraocular pressure (IOP) and glaucomatous changes of the optic nerve head, leading to field defects, visual loss and blindness. Hereditary glaucoma can be sub-classified as primary (congenital glaucoma, juvenile glaucoma) or secondary according to the presence or absence of systemic or other ocular anomalies (iridogoniodysgenesis, Stickler syndrome, Coats syndrome). The clinical presentation is variable and is based on age, severity of glaucoma, presence of ocular abnormalities and development of secondary IOP related abnormalities." "" + "glaucoma 1, open angle, A" "Any juvenile glaucoma in which the cause of the disease is a mutation in the MYOC gene." "" + "juvenile open angle glaucoma" "Juvenile glaucoma (JG) is a rare autosomal dominant open angle glaucoma, characterized by early onset, severe elevation of intra ocular pressure of rapid progression, leading to optic nerve excavation and, when untreated, substantial visual impairment." "" + "glaucoma 1, open angle, E" "A form of glaucoma in which there is no visible abnormality in the trabecular meshwork." "" + "glaucoma-sleep apnea syndrome" "Glaucoma-sleep apnea syndrome is characterized by sleep apnoea associated with glaucoma. It has been described in five members of a family (the mother and four of her children)." "" + "subependymoma" "Subependymoma is a rare and slow growing type of ependymoma, often presenting in middle-aged adults, found more commonly in men than in women, usually located in the fourth and lateral ventricles and manifesting with variable symptoms including headache, nausea, and loss of balance. In some cases it can be asymptomatic. It is usually associated with a better prognosis than other forms of ependymoma." "" + "low grade ependymoma" "" + "globulin anomaly involving beta (2A)-globulin" "" + "renal cysts and diabetes syndrome" "Renal cysts and diabetes syndrome (RCAD) is a rare form of maturity-onset diabetes of the young (MODY) characterized clinically by heterogeneous cystic renal disease and early-onset familial non-autoimmune diabetes. Pancreatic atrophy, liver dysfunction and genital tract anomalies are also features of the syndrome." "" + "hypotrichosis-lymphedema-telangiectasia syndrome (grouping)" "Hypotrichosis - lymphedema - telangiectasia is an extremely rare syndromic lymphedema disorder characterized by early-onset hypotrichosis, childhood-onset lymphedema, and variable telangiectasia, particularly of the palms." "" + "lymphatic malformation" "Primary lymphedema is caused by anatomic or functional defects in the lymphatic system, resulting in chronic swelling of body parts and lymphatic-system malformation." "" + "syndromic lymphedema" "A lymphedema that is part of a larger syndrome." "" + "fibronectin glomerulopathy" "Fibronectin glomerulopathy is a hereditary kidney disease characterized by proteinuria, type IV renal tubular acidosis, microscopic hematuria and hypertension that may lead to end-stage renal failure in the second to sixth decade of life." "" + "glomuvenous malformation" "Glomuvenous malformations (GVMs) are hereditary vascular malformations characterized by the presence of small, multifocal bluish-purple venous lesions involving the skin." "" + "Glucoglycinuria" "" + "glucose-6-phosphate dehydrogenase-like" "" + "glutamic acid decarboxylase, brain, membrane form" "" + "glutathione transferase activity toward trans-stilbene oxide" "" + "hyperglycinuria" "" + "obsolete glycoprotein, renal" "" "true" + "GMS syndrome" "GMS syndrome describes an extremely rare syndrome involving goniodysgenesis, intellectual disability and short stature in addition to microcephaly, short nose, small hands and ears, and that has been seen in one family to date. There have been no further descriptions in the literature since 1992." "" + "goniodysgenesis" "" + "multinodular goiter-cystic kidney-polydactyly syndrome" "Multinodular goiter - cystic kidney - polydactyly syndrome is a very rare syndrome characterized by the association of multinodular goiter, cystic renal disease and digital anomalies." "" + "goiter, multinodular 1, with or without Sertoli-Leydig cell tumors" "Any multinodular goiter in which the cause of the disease is a mutation in the DICER1 gene." "" + "granddad syndrome" "" + "Grant syndrome" "Grant syndrome is a rare osteogenesis imperfecta-like disorder, described in two patients to date, characterized clinically by persistent wormian bones, blue sclera, mandibular hypoplasia, shallow glenoid fossa, and campomelia. There have been no further descriptions in the literature since 1986." "" + "obsolete granulomatous disease, chronic, autosomal dominant type" "" "true" + "granulosis rubra nasi" "" + "gray platelet syndrome" "Gray platelet syndrome (GPS) is a rare inherited bleeding disorder characterized by macrothrombocytopenia, myelofibrosis, splenomegaly and typical gray appearance of platelets on Wright stained peripheral blood smear." "" + "alpha granule disease" "" + "graying of hair, precocious" "" + "Myhre syndrome" "Myhre syndrome is characterised by striking muscular build, short stature, reduced joint mobility, brachydactyly, mixed hearing loss and mental retardation of variable severity. Facial dysmorphism with short palpebral fissures, short philtrum, thin lips, maxillary hypoplasia and prognathism is present. Thick skin has been observed in six patients." "" + "guanylate kinase 3" "" + "aromatase excess syndrome" "Aromatase excess syndrome is a rare, genetic endocrine disease characterized by increased levels of estrogen due to elevated extraglandular aromatase activity. Males present with heterosexual precocious puberty which manifests with pre- or peripubertal onset of gynecomastia, premature growth spurt, accelerated bone maturation resulting in decreased adult stature, and may present mild hypogonadotropic hypogonadism. Female patients may have isosexual precocious puberty or not have any manifestations at all." "" + "peripheral precocious puberty" "Precocious puberty caused by sex hormones." "" + "precocious puberty in female" "A precocious puberty that involves the female organism." "" + "Guillain-Barre syndrome, familial" "A form of Guillain-Barre syndrome (GBS) that occurs in persons or families with a genetic predisposition to the acute or chronic forms of GBS. Note that GBS is considered to be a complex multifactorial disorder with both genetic and environmental factors, and families with clear Mendelian inheritance have been rarely reported: a mutation in the PMP22 gene (601097) on chromosome 17 was identified in a single family with the acute (AIDP) and chronic (CIDP) forms of inflammatory demyelinating polyneuropathy." "" + "Guillain-Barre syndrome" "A spectrum of rare post-infectious neuropathies that usually occur in otherwise healthy patients. GBS is clinically heterogeneous and encompasses acute inflammatory demyelinating polyradiculoneuropathy (AIDP), acute motor axonal neuropathy (AMAN) and acute motor-sensory axonal neuropathy (AMSAN), Miller-Fisher syndrome (MFS) and some other regional variants." "" + "chronic polyradiculoneuropathy" "Chronic form of polyradiculoneuropathy." "" + "hairy ears" "" + "hypertrichosis cubiti-short stature syndrome" "Hypertrichosis cubiti is a rare hair anomaly characterized by symmetrical, congenital or early-onset, bilateral hypertrychosis localized on the externsor surfaces of the upper extremities (especially the elbows). Short stature, or other abnormalities, such as developmental delay, facial anomalies and intellectual disability, may or may not be associated." "" + "hairy nose tip" "" + "hairy palms and soles" "" + "Emery-Nelson syndrome" "" + "hand clasping pattern" "" + "hand-foot-genital syndrome" "Hand-foot-genital syndrome (HFGS) is a very rare multiple congenital abnormality syndrome characterized by distal limb malformations and urogenital defects." "" + "syndromic uterovaginal malformation" "A uterovaginal malformation that is part of a larger syndrome." "" + "hawkinsinuria" "Hawkinsinuria is an inborn error of tyrosine metabolism characterized by failure to thrive, persistent metabolic acidosis, fine and sparse hair, and excretion of the unusual cyclic amino acid metabolite, hawkinsin ((2-l-cystein-S-yl, 4-dihydroxycyclohex-5-en-1-yl)acetic acid), in the urine." "" + "progressive familial heart block type II" "" + "heart-hand syndrome type 3" "Heart-hand syndrome type 3 is a very rare heart-hand syndrome, described in three members of a Spanish family to date, which is characterized by a cardiac conduction defect (sick sinus, bundle-branch block) and brachydactyly, resembling brachydactyly type C of the hands, affecting principally the middle phalanges in conjunction with an extra ossicle on the proximal phalanx of both index fingers. Feet abnormalities are more subtle." "" + "Holt-Oram syndrome" "Holt-Oram syndrome (HOS) is the most common form of heart-hand syndrome and is characterized by skeletal abnormalities of the upper limbs and mild-to-severe congenital cardiac defects." "" + "obsolete heart, malformation of" "" "true" + "osteoarthritis susceptibility 2" "" + "Heinz body anemia" "" + "cavernous hemangiomas of face-supraumbilical midline raphe syndrome" "" + "hemangiomas of small intestine" "A hemangioma that involves the small intestine." "" + "Kasabach-Merritt syndrome" "Kasabach-Merritt syndrome (KMS), also known as hemangioma-thrombocytopenia syndrome, is a rare disorder characterized by profound thrombocytopenia, microangiopathic hemolytic anemia, and subsequent consumptive coagulopathy in association with vascular tumors, particularly kaposiform hemangioendothelioma or tufted angioma." "" + "hematuria, benign familial" "" + "facial hemiatrophy" "Progressive hemifacial atrophy (PHA) is a rare acquired disorder, characterized by unilateral slowly progressive atrophy of the skin and soft tissues of half of the face leading to a sunken appearance. Muscles, cartilage and the underlying bony structures may also be involved." "" + "Bencze syndrome" "Bencze syndrome or hemifacial hyperplasia with strabismus is a malformation syndrome involving the abnormal growth of the facial skeleton as well as its soft tissue structure and organs, and is characterized by mild facial asymmetry with unaffected neurocranium and eyeballs, as well as by esotropia, amblyopia and/or convergent strabismus, and occasionally submucous cleft palate. Transmission is autosomal dominant. There have been no further descriptions in the literature since 1979." "" + "oculoauriculovertebral spectrum with radial defects" "Oculoauriculovertebral spectrum (OAVS) with radial defects is a rare branchial arches and limb primordia development disorder characterized by variable degrees of uni- or bilateral craniofacial malformation and radial defects that result in extremely variable phenotypic manifestations. Characteristic features include low postnatal weight, short stature, vertebral defects, hearing loss, and facial dysmorphism (incl. facial asymmetry, external, middle, and inner ear malformations, orofacial clefts, and mandibular hypoplasia). These features are invariably associated with radial defects, such as preaxial polydactyly, thumb and/or radius hypoplasia/agenesis, or triphalangeal thumb. Cardiac, pulmonary, renal, and central nervous system involvement has also been reported." "" + "clonic hemifacial spasm" "" + "acquired peripheral movement disorder" "" + "obsolete migraine, familial hemiplegic, 1" "" "true" + "hemolytic poikilocytic anemia due to reduced ankyrin binding sites" "" + "alpha thalassemia-intellectual disability syndrome type 1" "Alpha-thalassemia-intellectual deficit syndrome linked to chromosome 16 (ATR-16), a contiguous gene deletion syndrome, is a form of alpha-thalassemia characterized by microcytosis, hypochromia, normal hemoglobin (Hb) level or mild anemia, associated with developmental abnormalities." "" + "alpha-thalassemia-related diseases" "This term refers to a group of diseases characterized by alpha-thalassemia and an associated disorder. Three conditions are included in this group: alpha thalassemia - X-linked intellectual deficit (or ATR-X syndrome), alpha-thalassemia-intellectual deficit syndrome (or ATR-16 syndrome) and alpha-thalassemia-myelodysplastic disease (or ATMDS).*" "" + "partial deletion of the short arm of chromosome 16" "" + "hemoglobin--variants for which the chain carrying the mutation 1S unknown or uncertain" "" + "hepatic adenomas, familial" "" + "hepatocellular adenoma" "A benign epithelial neoplasm arising from the hepatocytes. Grossly, it appears as a soft, round mass which often contains areas of hemorrhage and necrosis. Morphologically, the neoplastic cells resemble normal hepatocytes and form plates separated by sinusoids. Most patients have a history of contraceptive or anabolic steroids use." "" + "diaphragmatic hernia, congenital 1" "" + "hernia, double inguinal" "" + "heterochromia iridis" "" + "Hirschsprung disease, susceptibility to, 1" "Any Hirschsprung disease in which the cause of the disease is a mutation in the RET gene." "" + "Hirschsprung disease" "Hirschsprung disease (HSCR) is a congenital intestinal motility disorder that is characterized by signs of intestinal obstruction due to the presence of an aganglionic segment of variable extent in the terminal part of the colon." "" + "hirsutism-skeletal dysplasia-intellectual disability syndrome" "" + "hereditary progressive mucinous histiocytosis" "Hereditary progressive mucinous histiocytosis is a rare, benign, non-Langerhans cell histiocytosis characterized by childhood or adolescence onset of multiple, small, asymptomatic, slowly progressing, skin-colored to red-brown papules with predilection for the face, dorsal hands, forearms and legs, without associated mucosal or visceral involvement. Histologically, papules are well-circumscribed, unencapsulated, nodular aggregates of histiocytes with abundant mucin in the upper and middermis." "" + "hip dysplasia, Beukes type" "Beukes familial hip dysplasia (BFHD) is a primary bone dysplasia, characterized by premature degenerative arthropathy of the hip. The disease presents with hip joint discomfort/pain and gait disturbances that usually develops in childhood and that progresses to severe functional disability and limited mobility by early adulthood. Involvement of the vertebral bodies and other joints is minimal, height is not significantly reduced, and general health is unimpaired. Radiographically, the femoral heads are flattened and irregular and degenerative osteoarthritis develops in the hip joints, as evidenced by the presence of periarticular cysts, sclerosis, and joint space narrowing." "" + "multiple epiphyseal dysplasia and pseudoachondroplasia" "" + "autosomal dominant familial periodic fever" "Tumor necrosis factor receptor 1 associated periodic syndrome (TRAPS) is a periodic fever syndrome, characterized by recurrent fever, arthralgia, myalgia and tender skin lesions lasting for 1 to 3 weeks, associated with skin, joint, ocular and serosal inflammation and complicated by secondary amyloidosis." "" + "hereditary periodic fever syndrome" "An instance of periodic fever syndrome that is caused by an inherited modification of the individual's genome." "" + "acne inversa, familial, 1" "Any familial acne inversa in which the cause of the disease is a mutation in the NCSTN gene." "" + "familial acne inversa" "An instance of hidradenitis suppurativa that is caused by an inherited modification of the individual's genome." "" + "developmental dysplasia of the hip 1" "" + "histiocytic dermatoarthritis" "" + "obsolete HLA modifier" "" "true" + "holoprosencephaly 3" "Any holoprosencephaly in which the cause of the disease is a mutation in the SHH gene." "" + "holoprosencephaly" "Holoprosencephaly (HPE) is a complex brain malformation resulting from incomplete cleavage of the prosencephalon, occurring between the 18th and 28th day of gestation, and affecting both the forebrain and face, which results in neurological manifestations and facial anomalies of variable severity." "" + "holoprosencephaly 4" "A rare disorder caused by mutations in the TGIF gene mapped to chromosome 18p11.3. It is characterized by semilobar holoprosencephaly, hypotelorism, and ptosis." "" + "congenital Horner syndrome" "Congenital Horner syndrome is a rare neurological disorder characterized by relative pupillary miosis and blepharoptosis, evident at birth, caused by interruption of the oculosympathetic innervation at any point along the neural pathway from the hypothalamus to the orbit. Often additional symptoms, such as enophthalmos, facial anhidrosis, iris heterochromia, conjunctival congestion, transient hypotonia and/or pupillary dilation lag, may be present. Association with birth trauma, neoplasms or vascular malformations has been reported." "" + "HPA 1 Recognition polymorphism, beta-globin-related" "" + "humeroradial synostosis" "Humero-radial synostosis is a rare, genetic, congenital joint formation defect disorder characterized by uni- or bilateral fusion of the humerus and radius bones at the elbow level, with or without associated ulnar and carpal/metacarpal deficiency, leading to loss of elbow motion and, in many cases, functional arm incapacity. Bowing of radius may be additionally present." "" + "spondyloepiphyseal dysplasia with congenital joint dislocations" "CHST3-related skeletal dysplasia is a very rare bone disorder characterized clinically by short stature of prenatal onset; dislocation of the knees, hips or elbows; club feet; limitation of range of motion of large joints; progressive kyphosis; and occasional scoliosis. In a few patients, minor heart valve dysplasia has also been described. Intellect, vision and hearing are normal." "" + "spondyloepiphyseal dysplasia" "An osteochondrodysplasia that results in abnormalities of bone growth located in vertebral column, located in epiphysis, located in metaphysis." "" + "Huntington disease" "Huntington disease (HD) is a rare neurodegenerative disorder of the central nervous system characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia." "" + "Wagner disease" "Wagner disease is a rare hereditary vitreoretinopathy characterized by an anomaleous vitreous associated with myopia, cataract, chorioretinal atrophy, and peripheral tractional or rhegmatogenous retinal detachment." "" + "syndromic myopia" "A myopia (disease) that is part of a larger syndrome." "" + "vitreoretinal degeneration" "" + "congenital hydronephrosis" "Congenital hydronephrosis is a renal urinary disease characterized by distension and dilation of the renal pelvis and calyces secondary to various congenital obstructive malformations of the kidneys and urinary tract that can evolve to renal atrophy." "" + "non-syndromic renal or urinary tract malformation" "A renal or urinary tract malformation that is not part of a larger syndrome." "" + "5-hydroxytryptamine oxygenase regulator" "" + "cholesterol-ester transfer protein deficiency" "" + "hyperalphalipoproteinemia" "An autosomal dominant genetic condition caused by mutation(s) in the CETP gene, encoding cholesteryl ester transfer protein. Affected individuals may have increased longevity due to decreased risk of coronary heart disease." "" + "Gilbert syndrome" "An autosomal recessive inherited disorder characterized by unconjugated hyperbilirubinemia, resulting in harmless intermittent jaundice." "" + "orthostatic hypotensive disorder, Streeten type" "" + "isolated hyperchlorhidrosis" "" + "genetic epidermal appendage anomaly" "An instance of epidermal appendage anomaly that is caused by a modification of the individual's genome." "" + "hypercalciuria, absorptive, 2" "" + "idiopathic inherited hypercalciuria" "" + "autosomal recessive infantile hypercalcemia" "A condition caused by autosomal recessive loss-of-function mutation(s) in the CYP24A1 or SLC34A1 gene, encoding mitochondrial 1,25-dihydroxyvitamin D(3) 24-hydroxylase, and sodium-dependent phosphate transport protein 2A, respectively. This condition is characterized by vomiting, polyuria, dehydration, and failure to thrive, accompanied by hypercalcemia, suppressed parathyroid hormone, and nephrocalcinosis." "True" + "hypercholesterolemia, familial, 1" "" + "hypercholesterolemia, autosomal dominant, type B" "" + "hyperheparinemia" "" + "Frey syndrome" "An autonomic disorder characterized by excessive sweating of the forehead, upper lip, perioral region, or sternum subsequent to gustatory stimuli. The auriculotemporal syndrome features facial flushing or sweating limited to the distribution of the auriculotemporal nerve and may develop after trauma to the parotid gland, in association with parotid neoplasms, or following their surgical removal. (From Ann Neurol 1997 Dec;42(6):973-5)" "" + "hyperhidrosis palmaris ET plantaris" "" + "hyperimmunoglobulin G1(A1) syndrome" "" + "hyperkeratosis lenticularis perstans" "" + "hyperkeratosis-hyperpigmentation syndrome" "Hyperkeratosis-hyperpigmentation syndrome describes a very rare hyperpigmentation of the skin characterized by tiny hyperpigmented spots mainly on skin exposed to sunlight, together with mild punctate palmoplantar papular hyperkeratosis as a major feature. There have been no further descriptions in the literature since 1993." "" + "epidermolytic palmoplantar keratoderma" "A genetic skin disorder caused by mutations in the KRT9 gene. It is characterized by hyperkeratosis in the palms and soles resulting in abnormal thickening of the skin in these areas." "" + "autosomal dominant isolated diffuse palmoplantar keratoderma" "Autosomal dominant form of isolated diffuse palmoplantar keratoderma." "" + "hyperlipidemia, familial combined, LPL related" "" + "hyperlipoproteinemia, type II, and deafness" "" + "hyperlipoproteinemia type IV" "A laboratory test result indicating an autosomal dominant condition in which there is increased very low density lipoprotein production, which leads to increased triglyceride concentration." "" + "hyperlipoproteinemia type V" "A severe type of hyperlipidemia, sometimes familial, that is characterized by the elevation of both plasma chylomicrons and triglycerides contained in very-low-density lipoproteins. Type V hyperlipoproteinemia is often associated with diabetes mellitus and is not caused by reduced lipoprotein lipase activity as in hyperlipoproteinemia type I." "" + "major hypertriglyceridemia" "Major hypertriglyceridemia comprises a group of endocrine diseases characterized by permanently high levels of triglycerides (TG) in the blood (higher than 4g/L after 12 hours of fasting) and an increased risk of acute pancreatitis, making screening essential." "" + "autosomal dominant osteosclerosis, Worth type" "Worth type autosomal dominant osteosclerosis is a sclerozing bone disorder characterized by generalized skeletal densification, particularly of the cranial vault and tubular long bones, which is not associated to an increased risk of fracture." "" + "hyperostosis cranialis interna" "" + "Morgagni-Stewart-Morel syndrome" "Morgagni-Stewart-Morel syndrome is characterised by thickening of the inner table of the frontal bone, sometimes associated with obesity and hypertrichosis. It mainly affects women over 35 years of age. The prevalence and clinical significance of hyperostosis frontalis interna is unknown. Transmission is either X-linked or autosomal dominant." "" + "hyperparathyroidism 1" "" + "familial isolated hyperparathyroidism" "A rare, autosomal dominant hereditary syndrome characterized by hypercalcemia, abnormally high levels of parathyroid hormone, and isolated hyperfunctioning parathyroid tumors." "" + "hyperparathyroidism 2 with jaw tumors" "An autosomal dominant inherited syndrome characterized by the development of parathyroid adenoma or carcinoma, ossifying fibroma of the mandible and maxilla, renal neoplasms, and renal cysts." "" + "hyperpigmentation of eyelid" "Over-production of pigment in the eyelid." "" + "hyperpigmentation of Fuldauer and Kuijpers" "" + "hyperpigmentation with or without hypopigmentation, familial progressive" "" + "familial progressive hyperpigmentation" "Familial progressive hyperpigmentation is a rare, genetic, skin pigmentation anomaly disorder characterized by irregular patches of hyperpigmented skin which present at birth or in early infancy and increase in size, number and confluence with age. Affected areas of the body include the face, neck, trunk and limbs, as well as the palms, soles, oral mucosa and conjuctiva. No hypogmentation macules are observed and no systemic diseases are associated." "" + "pseudohypoaldosteronism type 2A" "" + "pseudohypoaldosteronism type 2" "Pseudohypoaldosteronism type 2 (PHA2) is a rare inherited form of hypertension characterized by hyperkalemia, hyperchloremic metabolic acidosis, normal or elevated aldosterone, low renin, and normal renal function." "" + "hyperproglucagonemia" "" + "hyperreflexia" "An abnormal response to a stimulus applied to the sensory components of the nervous system. This may take the form of increased, decreased, or absent reflexes." "" + "hypersecretion of adrenal androgens, familial" "" + "hypersensitivity pneumonitis, familial" "An instance of hypersensitivity pneumonitis that is caused by an inherited modification of the individual's genome." "" + "hypertaurinuric cardiomyopathy" "" + "obsolete hypertelorism" "A condition in which there is an abnormally increased distance between two organs or bodily parts; most often, this term is referring to an increased distance between the orbits (orbital hypertelorism)." "" "true" + "autosomal dominant Opitz G/BBB syndrome" "Autosomal dominant form of Opitz G/BBB syndrome." "" + "Opitz G/BBB syndrome" "Opitz G/BBB syndrome (OS) is a multiple congenital anomalies disorder characterized by malformations of the midline including hypertelorism, laryngo-tracheo-esophalgeal defects and hypospadias. There are two clinically indistinguishable genetic subtypes of Opitz G/BBB: X-linked Opitz G/BBB syndrome (XLOS), and autosomal dominant Opitz G/BBB syndrome (ADOS)." "" + "hypertelorism, Teebi type" "Teebi type hypertelorism is a rare genetic disease characterized by hypertelorism with facial features that can closely resemble craniofrontonasal dysplasia, such as prominent forehead, widow's peak, heavy and broad eyebrows, long palpebral fissures, ptosis, high and broad nasal bridge, short nose, low-set ears, natal teeth, thin upper lip and a grooved chin, as well as limb (i.e. fifth-finger clinodactyly, pes adductus, mild interdigital webbing), urogenital (i.e. bilateral cryptorchidism and shawl scrotum in males) and umbilical (i.e. hernia/small omphalocele) anomalies and cardiac (i.e. ventricular or atrial septal defect, patent ductus arteriosus) defects. Additional findings such as polycystic kidneys and iridochorioretinal colobomas have also been reported and psychomotor development is normal. The facial features can also resemble Aarskog and Opitz G/BBB syndromes." "" + "essential hypertension, genetic" "An instance of essential hypertension that is caused by a modification of the individual's genome." "" + "hyperthermia, cutaneous, with headaches and nausea" "" + "malignant hyperthermia, susceptibility to, 1" "Any malignant hyperthermia of anesthesia in which the cause of the disease is a mutation in the RYR1 gene." "" + "malignant hyperthermia of anesthesia" "Malignant hyperthermia (MH) is a pharmacogenetic disorder of skeletal muscle that presents as a hypermetabolic response to potent volatile anesthetic gases such as halothane, sevoflurane, desflurane and the depolarizing muscle relaxant succinylcholine, and rarely, to stresses such as vigorous exercise and heat." "" + "selective pituitary resistance to thyroid hormone" "Pituitary resistance to thyroid hormone is a rare, genetic thyroid disease, due to reduced pituitary gland responsiveness to thyroid hormone, characterized by mild to moderate hyperthyroidism in association with elevated circulating thyroid hormone levels, normal or elevated thyroid stimulating hormone, and no abnormalities of the pituitary gland on MRI. Patients present with diffuse large goiter, tachycardia, atrial fibrillation, weight loss and/or heat intolerance/perspiration, but no exophthalmos or anterior tibial mixedema." "" + "resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta" "" + "hyperthyroxinemia, dystransthyretinemic" "" + "obsolete hypertrichosis lanuginosa congenita" "" "true" + "Ambras type hypertrichosis universalis congenita" "Congenital generalized hypertrichosis, Ambras type is an extremely rare type of hypertrichosis lanuginosa congenita, a congenital skin disease, that is characterized by the presence of vellus-type hair on the entire body, especially on the face, ears and shoulders, with the exception of palms, soles, and mucous membranes. Facial and dental anomalies can also be observed, such as triangular, coarse face, bulbous nasal tip, long palpebral fissures, delayed tooth eruption and absence of teeth." "" + "hypertrichosis lanuginosa congenita" "Hypertrichosis lanuginosa congenita is a rare congenital skin disease characterized by the presence of 3 to 5cm long lanugo-type hair on the entire body, with the exception of palms, soles, and mucous membranes." "" + "hypertriglyceridemia, familial" "An instance of hypertriglyceridemia (disease) that is caused by an inherited modification of the individual's genome." "" + "hypertrophia musculorum vera" "" + "Charcot-Marie-Tooth disease type 3" "" + "autosomal dominant hereditary demyelinating motor and sensory neuropathy" "" + "autosomal recessive hereditary demyelinating motor and sensory neuropathy" "" + "familial hypocalciuric hypercalcemia 1" "Any familial hypocalciuric hypercalcemia in which the cause of the disease is a mutation in the CASR gene." "" + "familial hypocalciuric hypercalcemia" "Familial hypocalciuric hypercalcemia (FHH) is a generally asymptomatic genetic disorder of phosphocalcic metabolism characterized by lifelong moderate hypercalcemia along with normo- or hypocalciuria and elevated plasma parathyroid hormone (PTH) concentration." "" + "familial hypocalciuric hypercalcemia 2" "A familial hypocalciuric hypercalcemia that has material basis in heterozygous mutation in the GNA11 gene on chromosome 19p13." "" + "hypochondroplasia" "Hypochondroplasia is characterized by disproportionate short stature, mild lumbar lordosis and limited extension of the elbow joints." "" + "hypogonadotropic hypogonadism 7 with or without anosmia" "A hypogonadotropic hypogonadism that has material basis in homozygous or compound heterozygous mutation in the GNRHR gene on chromosome 4q13, sometimes in association with mutation in another gene. No patients with anosmia have been reported." "" + "hypogonadotropic hypogonadism" "Abnormal ovarian or testicular function due to insufficient hormonal stimulation from the hypothalamic-pituitary axis." "" + "hypogonadotropic hypogonadism 14 with or without anosmia" "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the WDR11 gene." "" + "hypogonadotropic hypogonadism 17 with or without anosmia" "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the SPRY4 gene." "" + "hypogonadotropic hypogonadism 18 with or without anosmia" "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the IL17RD gene." "" + "hypogonadotropic hypogonadism 19 with or without anosmia" "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the DUSP6 gene." "" + "hypogonadotropic hypogonadism 20 with or without anosmia" "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FGF17 gene." "" + "hypogonadotropic hypogonadism 21 with or without anosmia" "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FLRT3 gene." "" + "hypogonadotropic hypogonadism 22 with or without anosmia" "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FEZF1 gene." "" + "mullerian duct anomalies-limb anomalies syndrome" "Mullerian duct anomalies-limb anomalies syndrome is characterised by the association of mullerian duct and distal limb anomalies. It has been described in five individuals from one family. Females presented with anomalies ranging from a vaginal septum to complete duplication of uterus and vagina, and males presented with micropenis. The limb anomalies varied from postaxial polydactyly to severe upper limb hypoplasia with split hand. The mode of transmission is autosomal dominant." "" + "hypoparathyroidism, familial isolated 1" "" + "familial hypoparathyroidism" "A rare heterogeneous group of metabolic disorders characterized by abnormal calcium metabolism due to deficient secretion of parathormone (PTH), without other endocrine disorders or developmental defects." "" + "hypoparathyroidism-deafness-renal disease syndrome" "The HDR syndrome is an inherited condition consisting of hypoparathyroidism, sensorineural deafness and renal disease." "" + "syndrome with hypoparathyroidism" "True" + "partial deletion of the short arm of chromosome 10" "" + "obsolete adult hypophosphatasia" "Adult hypophosphatasia (A-HPP) is a mildform of hypophosphatasia characterized by osteomalacia, chondrocalcinosis, osteoarthropathy, stress fractures duringmiddle age, and dental anomalies." "" "true" + "hypophosphatemic bone disease" "" + "chromosome 18p deletion syndrome" "Monosomy 18p refers to a chromosomal disorder resulting from the deletion of all or part of the short arm of chromosome 18." "" + "partial deletion of the short arm of chromosome 18" "True" + "obsolete hypoplasia of teeth roots" "" "true" + "hypospadias 3, autosomal" "" + "primary orthostatic hypotension" "Primary orthostatic hypotension is a rare type of orthostatic hypotension. It is not a disease per se, but a condition caused by several disorders that affect a specific part of the autonomic nervous system, such as multiple system atrophy, young-onset Parkinson's disease, pure autonomic failure, dopamine beta-hydroxylase deficiency, familial dysautonomia, and pure autonomic failure among others. The autonomic nervous system is the part of the nervous system that regulates certain involuntary body functions such as heart rate, blood pressure, sweating, and bowel and bladder control. Orthostatic hypotension is a form of low blood pressure that happens when standing-up from sitting or lying down. Common symptoms may include dizziness, lightheadedness, generalized weakness, leg buckling, nausea, blurry vision, fatigue, and headaches. Additional symptoms can include chest pain (angina), head and neck pain (often affecting neck and shoulders with a coat hanger distribution), decline in cognitive functioning such as difficulty concentrating, temporary loss of consciousness or “blackout”. Some people with primary orthostatic hypotension may also have high blood pressure when lying down. The treatment depends upon several factors including the specific underlying cause including The treatment depends upon several factors including the specific underlying cause and may include physical counter-maneuvers like lying down, sitting down, squatting clenching buttocks, leg crossing, and support garment and medication." "" + "Pallister-hall syndrome" "Pallister-Hall syndrome (PHS), a pleiotropic autosomal dominant malformative disorder, is characterized by hypothalamic hamartoma, pituitary dysfunction, bifid epiglottis, polydactyly, and, more rarely, renal abnormalities and genitourinary malformations." "" + "disease associated with non-acquired combined pituitary hormone deficiency" "True" + "hypotrichosis 2" "Any hypotrichosis in which the cause of the disease is a mutation in the CDSN gene." "" + "hypotrichosis simplex of the scalp" "Hypotrichosis simplex of the scalp (HSS) is characterized by diffuse progressive hair loss that is confined to the scalp." "" + "hypotrichosis 4" "Any hypotrichosis in which the cause of the disease is a mutation in the HR gene." "" + "Marie Unna hereditary hypotrichosis" "Marie Unna hereditary hypotrichosis (MUHH) is a rare autosomal dominant hair loss disorder characterized by the absence or scarcity of scalp hair, eyebrows, and eyelashes at birth; coarse and wiry hair during childhood; and progressive hair loss beginning around puberty." "" + "hypoxanthine guanine phosphoribosyltransferase suppressor" "" + "ichthyosis hystrix of Curth-Macklin" "Ichthyosis hystrix of Curth-Macklin (IHCM) is a rare type of keratinopathic ichthyosis that is characterized by the presence of severe hyperkeratotic lesions and palmoplantar keratoderma (PPK)." "" + "ichthyosis hystrix gravior" "" + "autosomal dominant ichthyosis vulgaris" "Ichthyosis vulgaris is a common skin disorder passed down through families that leads to dry, scaly skin. It often begins in early childhood. Treatment may include heavy duty moisturizers which contain chemicals that help the skin to shed normally, including lactic acid, salicylic acid, and urea. Ichthyosis vulgaris can be a nuisance, but it rarely affects overall health. The condition usually disappears during adulthood, but may return in later years. This condition is inherited in an autosomal dominant pattern." "" + "ichthyosis vulgaris" "The most common form of ichthyosis. It is an autosomal dominant inherited or acquired disorder characterized by scaling and desquamation of the skin." "" + "inherited ichthyosis" "An instance of ichthyosis (disease) that is caused by an inherited modification of the individual's genome." "" + "ichthyosis-cheek-eyebrow syndrome" "Ichthyosis-cheek-eyebrow syndrome is characterised by ichthyosis, prominent full cheeks and sparse lateral eyebrows. It has been described in several individuals from four generations of one family. Transmission is autosomal dominant." "" + "autosomal ichthyosis syndrome" "" + "ichthyosis, lamellar, autosomal dominant" "" + "lamellar ichthyosis" "Lamellar ichthyosis (LI) is a keratinization disorder characterized by the presence of large scales all over the body without significant erythroderma." "" + "ichthyosis bullosa of Siemens" "Superficial epidermolytic ichthyosis (SEI) is a rare keratinopathic ichthyosis (KI) characterized by the presence of superficial blisters and erosions at birth." "" + "exfoliative ichthyosis" "Exfoliative ichthyosis is an inherited, non-syndromic, congenital ichthyosis characterized by the infancy-onset of palmoplantar peeling of the skin (aggravated by exposure to water and by occlusion) associated with dry, scaly skin over most of the body. Pruritus and hypohidrosis may also be associated. Well-demarcated areas of denuded skin appear in moist and traumatized regions and skin biopsies reveal reduced cell-cell adhesion in the basal and suprabasal layers, prominent intercellular edema, numerous aggregates of keratin filaments in basal keratinocytes, attenuated cornified cell envelopes, and epidermal barrier impairment." "" + "immune deficiency, familial variable" "" + "common variable immunodeficiency" "Common variable immunodeficiency (CVID) comprises a heterogeneous group of diseases characterized by a significant hypogammaglobulinemia of unknown cause, failure to produce specific antibodies after immunizations and susceptibility to bacterial infections, predominantly caused by encapsulated bacteria." "" + "obsolete immunodeficiency with defective leukocyte and lymphocyte function and with response to histamine-1 antagonist" "" "true" + "immune suppression" "" + "IgE responsiveness, atopic" "Immediate hypersensitivity reaction - type I reaction, involves immunoglobulin E (IgE)-mediated release of chemical mediators from mast cells and basophils. Th2 cells produce IL-4 and IL-13, which then act on B cells to promote the production of antigen-specific IgE. Reexposure to the antigen can then result in the antigen binding to and cross-linking the bound IgE antibodies on the mast cells and basophils. This causes the release of preformed mediators (histamine, tryptase, tryptase, chemotactic factors), newly synthesized mediators (leukotrienes, prostaglandin, thromboxane, platelet-activating factor, adenosine, bradykinin), and cytokines from these cells that results in structural and functional changes to the affected tissue." "" + "Hyper-IgE recurrent infection syndrome 1" "A condition of decreased or absent presence or activity of signal transducer and activator of transcription 3 protein. Deficiency of this protein is associated with hyper-IgE syndrome." "" + "hyper-IgE syndrome" "A condition that is characterized by elevated serum IgE, dermatitis, and respiratory infections." "" + "immune deficiency with skin involvement" "True" + "solitary median maxillary central incisor syndrome" "A hereditary autosomal dominant condition characterized primarily by single (unpaired) deciduous and permanent maxillary central incisors and short stature. Growth hormone deficiencies may also be present. Mutations in the SHH gene have been identified." "" + "microform holoprosencephaly" "Microform holoprosencephaly is a benign form of holoprosencephaly (HPE) characterized by midline defects without the typical HPE defect in brain cleavage." "" + "fused mandibular incisors" "Fused manidbular incisors is an extremely rare dental anomaly that is characterized by the union of two, normally separated, incisor tooth germs of the primary dentition. It is frequently associated with hypodontia and an increased risk of pulp exposure." "" + "immunoglobulin switch sequences" "True" + "incisors, long upper central" "" + "insulin receptors, familial increase 1N" "" + "incisors, lower central, absence of" "" + "incisors, rotation of upper central" "" + "incisors, shovel-shaped" "" + "inclusion body myositis" "Inclusion body myositis (IBM) is a slowly progressive degenerative inflammatory disorder of skeletal muscles characterized by late onset weakness of specific muscles and distinctive histopathological features." "" + "indifference to pain, congenital, autosomal dominant" "" + "cholestasis, intrahepatic, of pregnancy, 1" "" + "familial intrahepatic cholestasis" "An instance of intrahepatic cholestasis that is caused by an inherited modification of the individual's genome." "" + "intrahepatic cholestasis of pregnancy" "A cholestatic disorder characterized by (i) pruritus with onset in the second or third trimester of pregnancy, (ii) elevated serum aminotransferases and bile acid levels, and (iii) spontaneous relief of signs and symptoms within two to three weeks after delivery." "" + "intrahepatic cholestasis" "Intrahepatic cholestasis of pregnancy (ICP) is a cholestatic disorder characterized by (i) pruritus with onset in the second or third trimester of pregnancy, (ii) elevated serum aminotransferases and bile acid levels, and (iii) spontaneous relief of signs and symptoms within two to three weeks after delivery." "" + "insensitivity to pain with hyperplastic Myelinopathy" "" + "insect Stings, hypersensitivity to" "" + "interferon antiviral depressor" "" + "iris pigment layer, cleavage of" "" + "islet cell adenomatosis" "A sporadic or inherited disorder characterized by the focal or diffuse proliferation of the cells of the islets of Langerhans in the pancreas. It results in hyperinsulinemia and hypoglycemia." "" + "intussusception" "Telescoping or invagination of a part of the intestine into an adjacent segment." "" + "IVIC syndrome" "IVIC syndrome is a very rare genetic malformation syndrome characterized by upper limb anomalies (radial ray defects, carpal bone fusion), extraocular motor disturbances, and congenital bilateral non-progressive mixed hearing loss." "" + "Johnson neuroectodermal syndrome" "Johnson neuroectodermal syndrome is characterised by alopecia, anosmia or hyposmia, conductive deafness with malformed ears and microtia and/or atresia of the external auditory canal, and hypogonadotropic hypogonadism." "" + "Jacobsen syndrome" "Jacobsen syndrome is a multiple congenital anomaly/mental retardation (MCA/MR) contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11." "" + "partial deletion of the long arm of chromosome 11" "A cytogenetic abnormality that refers to the allelic loss of all or part of the long arm of chromosome 11." "" + "syndromic constitutional thrombocytopenia" "" + "Aase-Smith syndrome" "Aase-Smith syndrome type I is a very rare genetic disorder characterised by the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate, and severe joint contractures." "" + "internal carotid artery, spontaneous dissection of" "" + "coxopodopatellar syndrome" "Small patella syndrome (SPS) is a very rare benign bone dysplasia affecting skeletal structures of the lower limb and the pelvis." "" + "patellar dysostosis" "" + "Ehlers-Danlos syndrome type 11" "Ehlers-Danlos syndrome, type 11, is characterised by generalized joint hypermobility often complicated by dislocation of major joints, particularly the shoulder but in some cases the kneecap. Congenital hip dislocation has also been frequently reported. The syndrome has been described in several families. It is transmitted as an autosomal dominant trait, with high penetrance." "" + "Kabuki syndrome 1" "" + "Kabuki syndrome" "Kabuki syndrome (KS) is a multiple congenital anomaly syndrome characterized by typical facial features, skeletal anomalies, mild to moderate intellectual disability and postnatal growth deficiency." "" + "hypogonadotropic hypogonadism 2 with or without anosmia" "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FGFR1 gene." "" + "Kallmann syndrome" "Kallmann syndrome (KS) is a developmental genetic disorder characterized by the association of congenital hypogonadotropic hypogonadism (CHH) due to gonadotropin-releasing hormone (GnRH) deficiency, and anosmia or hyposmia (with hypoplasia or aplasia of the olfactory bulbs)." "" + "Kaposi sarcoma, susceptibility to" "" + "KBG syndrome" "KBG syndrome is a rare condition characterised by a typical facial dysmorphism, macrodontia of the upper central incisors, skeletal (mainly costovertebral) anomalies and developmental delay." "" + "keloid formation" "" + "autosomal dominant keratitis" "Hereditary keratitis is characterised by opacification and vascularisation of the cornea, often associated with macula hypoplasia." "" + "keratitis fugax hereditaria" "" + "autosomal dominant keratitis-ichthyosis-hearing loss syndrome" "Autosomal dominant form of KID syndrome." "" + "KID syndrome" "Keratitis (and hystrix-like) ichthyosis deafness (KID/HID) syndrome is a rare congenital ectodermal disorder characterized by vascularizing keratitis, hyperkeratotic skin lesions and hearing loss." "" + "keratoconus 1" "Any keratoconus in which the cause of the disease is a mutation in the VSX1 gene." "" + "palmoplantar keratoderma-deafness syndrome" "Palmoplantar keratoderma-deafness syndrome is a keratinization disorder characterized by focal or diffuse palmoplantar keratoderma. A patchy distribution is observed with accentuation on the thenars, hypothenars and the arches of the feet. The disease becomes apparent in infancy and is associated with sensorineural hearing loss that shows a variable age of onset. Due to genetic and clinical similarities, it has been proposed that palmoplantar keratoderma-deafness syndrome, knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome and keratoderma hereditarium mutilans may represent variants of one broad disorder of syndromic deafness with heterogeneous phenotype. The disease is transmitted in an autosomal dominant manner with incomplete penetrance." "" + "palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome" "" + "autosomal dominant hereditary axonal motor and sensory neuropathy" "" + "keratolytic winter erythema" "Keratolytic winter erythema is a rare epidermal disease, characterized by recurrent centrifugal palmoplantar peeling and erythema presenting seasonal variation (cold weather). Skin lesions may spread to the dorsum of hands and feet and to the interdigital spaces. Lower legs, knees and thighs may also be involved. Episodes may be preceded by itch and hyperhidrosis. Skin biopsy reveals an epidermal spongiosis with clefting in the stratum corneum, followed by regrowth. Keratolytic winter erythema follows an autosomal dominant mode of transmission." "" + "keratosis, familial actinic" "" + "palmoplantar keratoderma-esophageal carcinoma syndrome" "Tylosis with esophageal cancer (TOC) is an inherited condition characterized by palmoplantar keratoderma and esophageal cancer. The palmoplantar keratoderma usually begins around age 10, and esophageal cancer may form after age 20. This condition is caused by a mutation in the RHBDF2 gene and is inherited in an autosomal dominant pattern." "" + "focal palmoplantar keratoderma" "" + "keratosis palmaris et plantaris-clinodactyly syndrome" "Keratosis palmaris et plantaris-clinodactyly syndrome is characterised by the association of palmoplantar keratosis with clinodactyly of the fifth finger. Less than 20 cases have been described in the literature so far, and the majority of reported patients were of Mexican origin. Transmission is autosomal dominant." "" + "palmoplantar keratoderma, punctate type 1A" "Any punctate palmoplantar keratoderma in which the cause of the disease is a mutation in the AAGAB gene." "" + "punctate palmoplantar keratoderma" "A palmoplantar keratosis characterized by keratoses with a \"raindrop\" pattern on the palmoplantar surface, skin lesions which may involve the whole of the palmoplantar surface, or may be more restricted in their distribution." "" + "punctate palmoplantar keratoderma type 1" "Punctate palmoplantar keratoderma type I (PPKP1), also known as Buschke-Fischer-Brauer syndrome, is a very rare hereditary skin disease characterized by irregularly distributed epidermal hyperkeratosis of the palms and soles with wide variation among patients.." "" + "palmoplantar keratoderma i, striate, focal, or diffuse" "" + "hereditary palmoplantar keratoderma" "An instance of palmoplantar keratosis that is caused by an inherited modification of the individual's genome." "" + "striate palmoplantar keratoderma" "Striate palmoplantar keratoderma is an isolated, focal, hereditary palmoplantar keratoderma characterized by linear hyperkeratosis along the flexor aspect of the fingers and on palms, as well as focal hyperkeratosis of the plantar skin. Patients present with painful thickening of the skin on palms and soles, with occasional fissuring, blistering and hyperhidrosis. Rarely, hyperkeratosis on other areas may be seen (knees, dorsal aspects of the digits). Histopatologically, widened intercellular spaces between keratinocytes are observed." "" + "focal palmoplantar and gingival keratoderma" "Focal palmoplantar and gingival keratoderma is a very rare form of focal palmoplantar keratoderma characterized by painful circumscribed hyperkeratotic lesions on weight-bearing areas of soles, moderate focal hyperkeratosis of palmar pressure-related areas and an asymptomatic leukokeratosis confined to labial- and lingual- attached gingiva. Additional occasional features may include hyperhidrosis, follicular keratosis and extended oral mucosa involvement." "" + "isolated cloverleaf skull syndrome" "Isolated cloverleaf skull syndrome is a form of craniosynostosis involving multiple sutures (coronal, lambdoidal, sagittal and metopic) characterized by a trilobular skull of varying severity (frontal towering and bossing, temporal bulging and a flat posterior skull), dysmorphic features (downslanting palpebral fissures, midface hypoplasia, and extreme proptosis) and that is complicated by hydrocephalus, cerebral venous hypertension, developmental delay/intellectual disability and hind brain herniation." "" + "isolated craniosynostosis" "A craniosynostosis that is not part of a larger syndrome." "" + "Waardenburg syndrome type 3" "Waardenburg syndrome type 3 (WS3) is a very rare subtype of Waardenburg syndrome (WS) that is characterized by limb anomalies in association with congenital hearing loss, minor defects in structures arising from neural crest, resulting in pigmentation anomalies of eyes, hair, and skin." "" + "Waardenburg syndrome" "Waardenburg syndrome (WS) is a disorder characterized by varying degrees of deafness and minor defects in structures arising from neural crest, including pigmentation anomalies of eyes, hair, and skin. WS is classified into four clinical and genetic phenotypes." "" + "Kleine-Levin syndrome" "Kleine-Levin syndrome (KLS) is a rare neurological disorder of unknown origin characterised by relapsing-remitting episodes of hypersomnia in association with cognitive and behavioural disturbances." "" + "angioosteohypertrophic syndrome" "Angio-osteohypertrophic (AOH) syndrome is a congenital vascular bone syndrome (CVBS) characterized by the presence of a vascular malformation in a limb, mainly of the arteriovenous type, which results in overgrowth of the affected limb." "" + "complex vascular malformation with associated anomalies" "True" + "knuckle pads" "" + "Bart-Pumphrey syndrome" "" + "nonsyndromic congenital nail disorder 2" "" + "hyperekplexia 1" "A hyperekplexia that has material basis in heterozygous, homozygous, or compound heterozygous mutation in the GLRA1 gene on chromosome 5q32." "" + "hereditary hyperekplexia" "Hereditary hyperekplexia is a hereditary neurological disorder characterized by excessive startle responses." "" + "Kyrle disease" "Kyrle disease is rare condition that affects the skin. People with this condition generally develop large papules with central keratin (a protein found in the skin, hair and nails) plugs throughout their body. These lesions are typically not painful but may cause severe itching. Although it can affect both men and women throughout life, the average age of onset is 30 years. The cause of the disease is currently unknown; however, it is often associated with certain conditions such as diabetes mellitus, kidney disease, liver abnormalities, and congestive heart failure. In some families, the condition appears to be inherited but an underlying genetic cause has not been identified. Treatment aims to address the associated signs and symptoms and any additional disease that may be present. Lesions often heal spontaneously but new ones continue to develop." "" + "labia minora, incomplete adhesion of" "" + "familial congenital nasolacrimal duct obstruction" "" + "excretory apparatus of the lacrimal system anomaly" "" + "LADD syndrome" "Lacrimoauriculodentodigital (LADD) syndrome is a multiple congenital anomaly syndrome characterized by hypoplasia, aplasia or atresia of the lacrimal system; anomalies of the ears and hearing loss; hypoplasias, apalsias or atresias of the salivary glands; dental anomalies and digital malformations." "" + "lactic acidosis, chronic adult form" "" + "trichorhinophalangeal syndrome type II" "Langer-Giedon syndrome, also known as trichorhinophalangeal syndrome type 2, is a very rare, genetic, multiple congenital anomaly disorder characterized by bone abnormalities, distinctive facial features, multiple exostoses, and intellectual disability." "" + "partial deletion of the long arm of chromosome 8" "Chromosome 8q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 8. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 8q deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person." "" + "trichorhinophalangeal syndrome" "" + "trichorhinophalangeal syndrome type I or III" "Trichorhinophalangeal syndromes (TRPS) type 1 and 3 are malformation syndromes characterized by short stature, sparse hair, a bulbous nasal tip and cone-shaped epiphyses, as well as severe generalized shortening of all phalanges, metacarpals and metatarsal bones." "" + "Larsen syndrome" "Larsen syndrome (LS) is a rare skeletal dysplasia characterized by congenital dislocation of large joints, foot deformities, cervical spine dysplasia, scoliosis, spatula-shaped distal phalanges and distinctive craniofacial abnormalities, including cleft palate." "" + "laryngeal abductor paralysis" "" + "laryngeal abductor paralysis-intellectual disability syndrome" "Laryngeal abductor paralysis-intellectual disability syndrome is characterised by congenital and permanent laryngeal abductor paralysis, associated, in the majority of cases, with intellectual deficit. It has been described in several families. X-linked inheritance is likely." "" + "larynx anomaly" "" + "laryngeal adductor paralysis" "" + "congenital laryngomalacia" "Increased collapsibility of the larynx." "" + "larynx atresia" "A congenital malformation of the larynx in which there is failure of recanalization of the laryngotracheal tube during gestation." "" + "congenital laryngeal web" "Congenital laryngeal web is a rare malformation consisting of a membrane-like structure that extends across the laryngeal lumen close to the level of the vocal cords." "" + "tooth agenesis, selective, 4" "Any tooth agenesis in which the cause of the disease is a mutation in the WNT10A gene." "" + "ectodermal dysplasia WNT10A related" "" + "lattice degeneration of retina leading to retinal detachment" "" + "periodic fever, immunodeficiency, and thrombocytopenia syndrome" "" + "leg ulcers, familial, of juvenile onset" "" + "Legg-Calve-Perthes disease" "A hip region disease that is characterized by uni- or bilateral avascular necrosis (AVN) of the femoral head in children. In a small percentage of cases, mutations in the COL2A1 gene were found to be responsible." "" + "hip region disease" "A disease or disorder that involves the hip." "" + "obsolete type 2 collagen-related bone disorder" "" "true" + "leiomyoma of vulva and esophagus" "" + "X-linked diffuse leiomyomatosis-Alport syndrome" "The association of X-linked Alport syndrome with leiomyomatosis of the esophagus, tracheobronchial tree or female genitals has been reported in more than 30 families." "" + "hereditary leiomyomatosis and renal cell cancer" "Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a hereditary cancer syndrome characterized by a predisposition to cutaneous and uterine leiomyomas and, in some families, to renal cell cancer." "" + "obsolete lentigines" "" "true" + "lentiginosis, centrofacial neurodysraphic" "" + "familial generalized lentiginosis" "Familial generalized lentiginosis is a rare, inherited, skin hyperpigmentation disorder characterized by widespread lentigines without associated noncutaneous abnormalities. Patients present multiple brown to dark brown, non-elevated macula of 0.2 to 1 cm in diameter, spread over the entire body, sometimes including palms or soles, but never oral mucosa." "" + "Lenz-Majewski hyperostotic dwarfism" "Lenz-Majewski hyperostotic dwarfism is an extremely rare syndrome associating dwarfism, characteristic facial appearance, cutis laxa and progressive bone sclerosis." "" + "Noonan syndrome with multiple lentigines" "Noonan syndrome with multiple lentigines (NSML), previously known as LEOPARD syndrome, is a rare multisystem genetic disorder characterized by lentigines, hypertrophic cardiomyopathy, short stature, pectus deformity, and dysmorphic facial features." "" + "Noonan syndrome and Noonan-related syndrome" "" + "palpebral lentiginosis" "A lentigo that involves the skin of eyelid." "" + "Leri pleonosteosis" "Leri pleonosteosis is characterized by broadening and deformity of the thumbs and great toes in a valgus position (a 'spade-shaped' appearance), flexion contracture of the interphalangeal joints, generalized limitation of joint mobility, short stature, and often mongoloid facies. Additional malformations include genu recurvatum, enlargement of the posterior neural arches of the cervical vertebrae, and thickening of the palmar and forearm fasciae. A few multigenerational families have been reported so far. The disease is inherited in an autosomal dominant manner." "" + "platyspondylic dysplasia, Torrance type" "" + "spondylodysplastic dysplasia" "" + "obsolete leukemia, chronic lymphocytic" "" "true" + "leukocyte nuclear appendages, hereditary prevalence of" "" + "nonsyndromic congenital nail disorder 3" "Any inherited isolated nail anomaly in which the cause of the disease is a mutation in the PLCD1 gene." "" + "pachyonychia congenita" "Pachyonychia congenita (PC) is a rare genodermatosis predominantly featuring painful palmoplantar keratoderma, thickened nails, cysts and whitish oral mucosa." "" + "levator-medial rectus synkinesis" "" + "lichen planus, familial" "An instance of lichen planus that is caused by an inherited modification of the individual's genome." "" + "Li-Fraumeni syndrome 1" "Any Li-Fraumeni syndrome in which the cause of the disease is a mutation in the TP53 gene." "" + "Li-Fraumeni syndrome" "Li-Fraumeni syndrome (LFS) is a rare cancer predisposition syndrome characterized by the early-onset of multiple primary cancers such as breast cancer, soft tissue and bone sarcomas, brain tumors and adrenal cortical carcinoma (ACC)." "" + "median nodule of the upper lip" "Median nodule of the upper lip is a minor trait of the lip transmitted in an autosomal dominant fashion." "" + "lip, hamartomatous" "" + "familial partial lipodystrophy, Dunnigan type" "Familial Partial lipodystrophy, Dunnigan type (FPLD2) is a rare form of genetic lipodystrophy characterized by a loss of subcutaneous adipose tissue from the trunk, buttocks and limbs; fat accumulation in the neck, face, axillary and pelvic regions; muscular hypertrophy; and usually associated with metabolic complications such as insulin resistance, diabetes mellitus, dyslipidemia and liver steatosis." "" + "progeroid syndrome" "A group of rare genetic disorders which mimic physiological aging, making affected individuals appear to be older than they are." "" + "familial partial lipodystrophy" "Familial partial lipodystrophy (FPLD) is a group of rare genetic lipodystrophic syndromes characterized, in most cases, by fat loss from the limbs and buttocks, from childhood or early adulthood, and often associated with acanthosis nigricans, insulin resistance, diabetes, hypertriglyceridemia and liver steatosis." "" + "lipoma of the conjunctiva" "" + "lipoma of face" "A lipoma that involves the face." "" + "multiple symmetric lipomatosis" "Multiple symmetric lipomatosis (MSL) is a rare subcutaneous tissue disease characterized by growth of symmetric non-encapsulated masses of adipose tissue mostly around the face and neck with variable clinical repercussions (e.g. reduced neck mobility, compression of respiratory structures)." "" + "familial multiple lipomatosis" "Familial multiple lipomatosis is a rare, benign, genetic skin disease characterized by numerous, painless, encapsulated lipomas located in the subcutaneous adipose tissue of the trunk and extremities, with relative sparing of the neck and shoulders. Association with gastroduodenal lipomatosis, brain anomalies or lipomatosis, and refractory epilepsy has been reported." "" + "lipoprotein types--Lt system" "" + "lipoprotein, variant of beta" "" + "lithium transport" "" + "low density lipoprotein, variation in molecular weight of" "" + "lumbar stenosis, familial" "" + "primary intestinal lymphangiectasia" "Primary intestinal lymphangiectasia (PIL) is a rare intestinal disease characterized by dilated intestinal lacteals which cause lymph leakage into the small bowel lumen. Clinical manifestations include edema related to hypoalbuminemia (protein-losing enteropathy), asthenia, diarrhea, lymphedema and failure to thrive in children." "" + "intestinal lymphangiectasia" "Dilatation of the intestinal lymphatic system usually caused by an obstruction in the intestinal wall. It may be congenital or acquired and is characterized by diarrhea; hypoproteinemia; peripheral and/or abdominal edema; and protein-losing enteropathies." "" + "lymphedema-cerebral arteriovenous anomaly syndrome" "Lymphedema-cerebral arteriovenous anomaly syndrome is characterised by the variable association of a cerebrovascular malformation, foot lymphoedema and primary pulmonary hypertension. It has been described in a woman and four of her children." "" + "microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability" "Microcephaly with or without chorioretinopathy, lymphedema or intellectual disability (MCLID) is a rare autosomal dominant condition characterized by variable expression of microcephaly, ocular disorders including chorioretinopathy, congenital lymphedema of the lower limbs, and mild to moderate intellectual disability." "" + "syndrome with microcephaly as major feature" "True" + "lymphatic malformation 1" "Any hereditary lymphedema in which the cause of the disease is a mutation in the FLT4 gene." "" + "lymphatic malformation 5" "A frequent form of late-onset, primary lymphedema characterized by lower limb lymphedema typically developing during puberty." "" + "yellow nail syndrome" "Yellow nail syndrome (YNS) is a very rare syndromic disorder characterized by the variable triad of characteristic yellow nails, chronic respiratory manifestations, and primary lymphedema." "" + "primary interstitial lung disease specific to childhood due to alveolar vascular disorder" "True" + "lymphedema-distichiasis syndrome" "Lymphedema - distichiasis is a rare syndromic lymphedema disorder characterized by lower-limb lymphedema and varying degrees of abnormal growth of eyelashes from the orifices of the Meibomian glands (distichiasis), with occasional associated manifestations." "" + "macrocephaly, benign familial" "" + "Bannayan-Riley-Ruvalcaba syndrome" "Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare congenital disorder characterized by hamartomatous intestinal polyposis, lipomas, macrocephaly and genital lentiginosis." "" + "intestinal polyposis syndrome" "" + "PTEN hamartoma tumor syndrome" "A group of clinically heterogeneous disorders united by a germline PTEN mutation and the involvement of derivatives of all 3 germ cell layers, manifesting with hamartomas, overgrowth and neoplasia. Currently, subsets carrying clinical diagnoses of Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, Proteus and Proteus-like syndromes and SOLAMEN syndrome belong to PHTS." "" + "genetic intestinal polyposis" "" + "chromosome 5q deletion syndrome" "A myelodysplastic syndrome characterized by a deletion between bands q31 and 33 on chromosome 5. The number of blasts in the bone marrow and blood is <5%. The bone marrow is usually hypercellular or normocellular with increased number of often hypolobated megakaryocytes. The peripheral blood shows macrocytic anemia. This syndrome occurs predominantly but not exclusively in middle age to older women. The prognosis is good and transformation to acute leukemia is rare. (WHO, 2001)" "" + "partial deletion of the long arm of chromosome 5" "" + "myelodysplastic syndrome" "A clonal hematopoietic disorder characterized by dysplasia and ineffective hematopoiesis in one or more of the hematopoietic cell lines. The dysplasia may be accompanied by an increase in myeloblasts, but the number is less than 20%, which, according to the WHO guidelines, is the requisite threshold for the diagnosis of acute myeloid leukemia. It may occur de novo or as a result of exposure to alkylating agents and/or radiotherapy. (WHO, 2001)" "" + "obsolete Waldenstrom macroglobulinemia" "" "true" + "congenital macroglossia" "" + "obsolete Fechtner syndrome" "" "true" + "obsolete Epstein syndrome" "" "true" + "Bernard-Soulier syndrome" "Bernard Soulier syndrome (BSS) is an inherited platelet disorder characterized by mild to severe bleeding tendency, macrothrombocytopenia and absent ristocetin-induced platelet agglutination." "" + "vitelliform macular dystrophy 2" "Best vitelliform macular dystrophy (BVMD) is a genetic macular dystrophy characterized by loss of central visual acuity, metamorphopsia and a decrease in the Arden ratio secondary to an egg yolk-like lesion located in the foveal or parafoveal region." "" + "age related macular degeneration 2" "An age related macular degeneration conferred by variation in the ABCA4 gene on chromosome 1p22." "" + "vitelliform macular dystrophy 1" "" + "adult-onset foveomacular vitelliform dystrophy" "Adult-onset foveomacular vitelliform dystrophy (AOFVD) is a genetic macular dystrophy characterized by blurred vision, metamorphopsia and mild visual impairment secondary to a slightly elevated, yellow, egg yolk-like lesion located in the foveal or parafoveal region." "" + "benign concentric annular macular dystrophy" "Benign concentric annular macular dystrophy (BCAMD) is a progressive autosomal dominant macular dystrophy characterized by parafoveal hypopigmentation followed by a retinitis pigmentosa-like phenotype (nyctalopia and peripheral vision loss) with a bullBs eye configuration." "" + "cystoid macular edema" "An autosomal dominantly inherited cystoid macular edema manifesting with macular atrophy, strabismus and, sometimes, pericentral retinitis pigmentosa. It is associated with a poor visual prognosis." "" + "macular dystrophy, fenestrated sheen type" "" + "renal hypomagnesemia 2" "Autosomal dominant primary hypomagnesemia with hypocalciuria (ADPHH) is a mild form of familial primary hypomagnesemia (FPH), characterized by extreme weakness, tetany and convulsions. Secondary disturbances in calcium excretion are observed." "" + "familial primary hypomagnesemia" "A hereditary disorder that leads to a selective defect in renal or intestinal magnesium absorption, resulting in a low serum magnesium concentration." "" + "familial primary hypomagnesemia with hypocalcuria" "" + "46,XY sex reversal 4" "Sex reversal in an individual associated with a 9p24.3 deletion." "" + "46,XY complete gonadal dysgenesis" "46,XY complete gonadal dysgenesis (46,XY CGD) is a disorder of sex development (DSD) associated with anomalies in gonadal development that result in the presence of female external and internal genitalia despite the 46,XY karyotype." "" + "46,XY partial gonadal dysgenesis" "46,XY partial gonadal dysgenesis (46,XY PGD) is a disorder of sex development (DSD) associated with anomalies in gonadal development that results in genital ambiguity of variable degree ranging from almost female phenotype to almost male phenotype in a patient carrying a male 46,XY karyotype." "" + "malignant hyperthermia, susceptibility to, 2" "" + "malignant hyperthermia, susceptibility to, 3" "" + "malocclusion due to protuberant upper front teeth" "" + "Mammastatin" "" + "Nager acrofacial dysostosis" "Nager syndrome, also called Nager acrofacial dysostosis (NAFD) is a congenital malformation syndrome characterized by mandibulofacial dystosis (malar hypoplasia, micrognathia, external ear malformations) and variable preaxial limb defects." "" + "Treacher-Collins syndrome 1" "Any Treacher-Collins syndrome in which the cause of the disease is a mutation in the TCOF1 gene." "" + "mannose 6-phosphate receptor recognition defect, Lebanese type" "" + "jaw-winking syndrome" "Marcus-Gunn syndrome is characterised by ptosis associated with maxillopalpebral synkinesis." "" + "Marfan syndrome" "A disorder of the connective tissue. Connective tissue provides strength and flexibility to structures throughout the body such as bones, ligaments, muscles, walls of blood vessels, and heart valves. Marfan syndrome affects most organs and tissues, especially the skeleton, lungs, eyes, heart, and the large blood vessel that distributes blood from the heart to the rest of the body (the aorta). It is caused by mutations in the FBN1 gene, which provides instructions for making a protein called fibrillin-1. Marfan syndrome is inherited in an autosomal dominant pattern. At least 25% of cases are due to a new (de novo) mutation. Treatment is based on the signs and symptoms in each person." "" + "syndromic keratoconus" "A keratoconus (disease) that is part of a larger syndrome." "" + "marfanoid hypermobility syndrome" "" + "Marshall syndrome" "Marshall syndrome is a malformation syndrome that is characterized by facial dysmorphism, severe hypoplasia of the nasal bones and frontal sinuses, ocular involvement, early-onset hearing loss, skeletal and anhidrotic ectodermal anomalies and short stature with spondyloepiphyseal dysplasia and early-onset osteoarthritis." "" + "mastocytosis" "A clonal myeloproliferative neoplasm characterized by the proliferation and accumulation of neoplastic mast cells in one or multiple organs or organ systems. It is a heterogeneous group of neoplasms, ranging from cutaneous proliferations which may regress spontaneously, to aggressive neoplasms associated with organ failure and short survival." "" + "tumor of hematopoietic and lymphoid tissues" "" + "masticatory muscles, hypertrophy of" "" + "maxillofacial dysostosis" "" + "Binder syndrome" "A rare developmental anomaly, affecting primarily the anterior part of the maxilla and nasal complex." "" + "obsolete May-Hegglin anomaly" "" "true" + "Meckel diverticulum" "A congenital pouch in the distal ileum. It may cause painless rectal bleeding and bowel obstruction." "" + "Pai syndrome" "Pai syndrome is an idiopathic developmental disorder characterized by median cleft of the upper lip (MCL), midline polyps of the facial skin and nasal mucosa, and pericallosal lipomas. Hypertelorism with ocular anomalies are also observed, generally with normal neuropsychological development." "" + "mediosternal depigmentation line" "" + "familial medullary thyroid carcinoma" "An instance of thyroid medullary carcinoma that is caused by an inherited modification of the individual's genome." "" + "medullary thyroid gland carcinoma" "A neuroendocrine carcinoma arising from the C-cells of the thyroid gland. It is closely associated with multiple endocrine neoplasia syndromes. Approximately 10% to 20% of medullary thyroid carcinomas are familial. Patients usually present with a thyroid nodule that is painless and firm. In the majority of cases nodal involvement is present at diagnosis. Surgery is the preferred treatment for both primary lesions and recurrences. This carcinoma is generally not very sensitive to radiation and almost unresponsive to chemotherapy." "" + "multiple endocrine neoplasia type 2" "Multiple endocrine neoplasia type 2 (MEN2) is a multiple endocrine neoplasia, a polyglandular cancer syndrome characterized by the occurrence of medullary thyroid carcinoma (MTC), pheochromocytoma (PCC), in one variant, primary hyperparathyroidism (PHPT). There are three forms: MEN2A, MEN2B, and familial medullary thyroid carcinoma (FMTC)." "" + "obsolete megacystis-microcolon-intestinal hypoperistalsis syndrome" "" "true" + "megalencephaly, autosomal dominant" "" + "megalencephaly" "A congenital abnormality in which the occipitofrontal circumference is greater than two standard deviations above the mean for a given age. It is associated with hydrocephalus; subdural effusion; arachnoid cysts; or is part of a genetic condition (e.g., alexander disease; sotos syndrome)." "" + "Megalodactyly" "A condition in which a finger or toe is larger than normal size secondary to excessive growth of the anatomical structures or abnormal accumulation of substances." "" + "melanoma, cutaneous malignant, susceptibility to, 1" "" + "familial cutaneous melanoma" "An instance of cutaneous melanoma (disease) that is caused by an inherited modification of the individual's genome." "" + "familial atypical multiple mole melanoma syndrome" "" + "melanoma, cutaneous malignant, susceptibility to, 2" "Clinically atypical nevi (usually exceeding 5 mm in diameter and having variable pigmentation and ill defined borders) with an increased risk for development of non-familial cutaneous malignant melanoma. Biopsies show melanocytic dysplasia. Nevi are clinically and histologically identical to the precursor lesions for melanoma in the B-K mole syndrome. (Stedman, 25th ed)" "" + "melanoma, malignant familial intraocular" "" + "susceptibility to uveal melanoma" "" + "melanoma and neural system tumor syndrome" "Melanoma and neural system tumor syndrome is an extremely rare tumor association characterized by dual predisposition to melanoma and neural system tumors (typically astrocytoma)." "" + "melanoma tumor antigen Gp90" "" + "Melkersson-Rosenthal syndrome" "The Melkersson-Rosenthal syndrome is a rare disorder characterized by a triad of recurrent orofacial swelling, relapsing facial paralysis and fissured tongue and onset in childhood or early adolescence. It has an estimated incidence of 8/10,000. The etiology is unknown but hereditary predisposition is suspected." "" + "melorheostosis" "Melorheostosis is a rare connective tissue disorder characterized by a sclerosing bone dysplasia, usually limited to one side of the body (rarely bilateral), that manifests with pain, stiffness, joint contractures and deformities." "" + "osteopetrosis" "Osteopetrosis, also known as marble bone disease, is a descriptive term that refers to a group of rare, heritable disorders of the skeleton characterized by increased bone density on radiographs." "" + "delayed membranous cranial ossification" "Delayed membranous cranial ossification is a rare, genetic primary bone dysplasia characterized by absent ossification of calvarial bones at birth and characteristic facial dysmorphisms (frontal bossing, hypertelorism, downward-slanting palpebral fissures, proptosis, flat nasal bridge, low-set ears, midface retrusion). Patients present a soft skull at birth which, over time, progressively ossifies and in adulthood typically results in a deformed skull (with brachycephaly and prominent occiput). No other skeletal abnormalities are associated and patients have normal cognitive and motor development." "" + "mental and growth retardation with amblyopia" "" + "intellectual disability, autosomal dominant 1" "An autosomal dominant condition caused by mutation(s) in the MBD5 gene, encoding methyl-CpG-binding domain protein 5. It is characterized by severe developmental and cognitive delay, short stature, craniofacial dysmorphism, and seizures." "" + "meralgia paraesthetica, familial" "" + "meralgia paresthetica" "Meralgia paresthetica is a condition characterized by tingling, numbness and burning pain in the outer thigh. These symptoms may become worse after walking or standing. The condition generally only affects one side of the body, although both sides may be involved in up to 20% of cases. Meralgia paresthetica is caused by compression of the lateral femoral cutaneous nerve (a sensory nerve to the skin on the outer thigh). This may be associated with a variety of causes such as tight clothing, obesity, and/or pregnancy. Treatment is based on the signs and symptoms present in each person and may include medications to manage pain. In most cases, conservative treatment by wearing looser clothing and/or losing weight generally resolves symptoms." "" + "mesomelic dwarfism of hypoplastic tibia and radius type" "" + "mesomelic dysplasia, Kantaputra type" "Mesomelic dysplasia Kantaputra type (MDK) is a rare skeletal disease characterized by symmetric shortening of the middle segments of limbs and short stature." "" + "obsolete malignant mesothelioma" "" "true" + "metachondromatosis" "Metachondromatosis (MC) is a rare disorder characterized by the presence of both multiple enchondromas and osteochondroma-like lesions." "" + "metachromasia of fibroblasts" "" + "metachromatic leukodystrophy, adult-onset, with normal arylsulfatase A" "" + "metachromatic leukodystrophy" "A rare lysosomal storage disorder characterized byintralysosomal accumulation of sulfatides in various tissues, leading to progressive deterioration of motor and neurocognitive function." "" + "multiple metaphyseal dysplasia" "" + "Schmid metaphyseal chondrodysplasia" "Schmid metaphyseal chondrodysplasia is a rare disorder characterized by moderately short stature with short limbs, coxa vara, bowlegs and an abnormal gait." "" + "metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome" "Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome is characterized by metaphyseal dysplasia associated with short stature and facial dysmorphism (a beaked nose, short philtrum, thin lips, maxillary hypoplasia, dystrophic yellowish teeth) and acral anomalies (short fifth metacarpals and/or short middle phalanges of fingers two and five). It has been described in several members spanning four generations of a French-Canadian family. The syndrome is likely to be transmitted as an autosomal dominant trait." "" + "metatarsus varus, type 1" "" + "metatropic dysplasia" "Metatropic dysplasia (MTD) is a rare spondyloepimetaphyseal dysplasia characterized by a long trunk and short limbs in infancy followed by severe and progressive kyphoscoliosis causing a reversal in proportions during childhood (short trunk and long limbs) and a final short stature in adulthood." "" + "Kniest dysplasia" "Kniest dysplasia is a severe type II collagenopathy characterized by a short trunk and limbs, prominent joints and midface hypoplasia (round face with a flat nasal root)." "" + "spondylometaphyseal dysplasia" "Spondylometaphyseal dysplasias are a heterogeneous group of disorders associated with walking and growth disturbances that become evident during the second year of life." "" + "autosomal dominant primary microcephaly" "Autosomal dominant form of microcephaly (disease)." "" + "isolated congenital microcephaly" "" + "congenital microcoria" "Congenital microcoria is a rare autosomal dominant ophthalmological disease caused by maldevelopment of the dilator muscle of the pupil that is characterized by small pupils (<2 mm in diameter) from birth, peripheral iris hypopigmentation and transillumination defects leading to errors of refraction (myopia, astigmatism) and sometimes juvenile open angle glaucoma." "" + "multiple benign circumferential skin creases on limbs" "" + "microcephaly-deafness-intellectual disability syndrome" "Microcephaly-deafness-intellectual disability syndrome is characterised by microcephaly, deafness, intellectual deficit and facial dysmorphism (facial asymmetry, prominent glabella, low-set and cup-shaped ears, protruding lower lip, micrognathia). It has been described in a mother and her son. The mode of inheritance is probably autosomal dominant." "" + "microcornea-glaucoma-absent frontal sinuses syndrome" "Microcornea-glaucoma-absent frontal sinuses syndrome is characterised by microcornea, glaucoma and absent frontal sinuses. Less 10 cases have been described so far. The mode of transmission appears to be autosomal dominant." "" + "microgastria-limb reduction defect syndrome" "This syndrome is characterised by the association of microgastria with a limb reduction defect." "" + "multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome" "" + "syndromic gastroduodenal malformation" "A gastroduodenal malformation that is part of a larger syndrome." "" + "micromelic bone dysplasia with cloverleaf skull" "" + "thanatophoric dysplasia type 2" "Thanatophoric dysplasia characterized by a cloverleaf-like skull and straight femurs." "" + "microphthalmia, isolated, with cataract 1" "" + "microphthalmia, isolated, with corectopia" "" + "microspherophakia with hernia" "" + "microspherophakia-metaphyseal dysplasia syndrome" "Microspherophakia - metaphyseal dysplasia is a very rare syndrome associating bone dysplasia with micromelic dwarfism and eye defects." "" + "lens size anomaly" "" + "holoprosencephaly 2" "A rare disorder characterized by the partial separation of the cerebral hemispheres. It is associated with mutations in the SIX3 gene." "" + "migraine with or without aura, susceptibility to, 1" "" + "migraine with or without aura, susceptibility to" "An inherited susceptibility or predisposition to developing migraines with or without aura." "" + "milia, multiple eruptive" "" + "mirror movements 1" "Any familial congenital mirror movements in which the cause of the disease is a mutation in the DCC gene." "" + "autosomal dominant progressive external ophthalmoplegia" "Autosomal dominant form of progressive external ophthalmoplegia." "" + "multiple mitochondrial DNA deletion syndrome" "" + "familial mitral valve prolapse" "An instance of mitral valve prolapse (disease) that is caused by an inherited modification of the individual's genome." "" + "congenital mitral valve insufficiency and/or stenosis" "" + "inherited mitral valve disease" "An instance of mitral valve disease that is caused by an inherited modification of the individual's genome." "" + "cardiospondylocarpofacial syndrome" "Cardiospondylocarpofacial syndrome is characterized by mitral insufficiency, conductive deafness, short stature, and skeletal anomalies (bony fusion involving the cervical vertebrae, the ossicles, and the carpal and tarsal bones). It has been described in three members of one family. The mode of inheritance is likely to be autosomal dominant with incomplete penetrance." "" + "Mobius syndrome" "Moebius syndrome is a very rare congenital cranial dysinnervation disorder characterized by complete or incomplete facial paralysis in association with bilateral palsy of the abducens nerve causing impairment of ocular abduction. The syndrome also includes various other congenital anomalies." "" + "paralytic facial malformation" "" + "tooth ankylosis" "Dental ankylosis is a rare disorder characterized by the fusion of the tooth to the bone, preventing both eruption and orthodontic movement." "" + "MOMO syndrome" "MOMO syndrome is a very rare genetic overgrowth/obesity syndrome characterized by macrocephaly, obesity, mental (intellectual) disability and ocular abnormalities. Other frequent clinical signs include macrosomia, downslanting palpebral fissures, hypertelorism, broad nasal root, high and broad forehead and delay in bone maturation, in association with normal thyroid function and karyotype." "" + "monilethrix" "Monilethrix is a rare genodermatosis characterized by a hair shaft dysplasia resulting in hypotrichosis." "" + "isolated genetic hair shaft abnormality" "" + "antigen defined by monoclonal antibody Aj9" "" + "antigen defined by monoclonal antibody T87" "" + "Monophalangy of great toe" "" + "chromosome 9p deletion syndrome" "Monosomy 9p is a rare chromosomal anomaly characterized by psychomotor developmental delay, facial dysmorphism (trigonocephaly, midface hypoplasia, upslanting palpebral fissures, dysplastic small ears, flat nasal bridge with anteverted nostrils and long philtrum, micrognathia, choanal atresia, short neck), single umbilical artery, omphalocele, inguinal or umbilical hernia, genital abnormalities (hypospadia, cryptorchidism), muscular hypotonia and scoliosis." "" + "partial deletion of chromosome 9" "" + "nondisjunction" "" + "trismus-pseudocamptodactyly syndrome" "" + "hereditary mucoepithelial dysplasia" "Hereditary mucoepithelial dysplasia (HMD) is a condition that affects the skin, hair, mucosa (areas ofthe body that are lined with mucus), gums (gingiva), eyes, nose and lungs. Symptoms typically begin in infancy and may include development of cataracts (clouding of the eye lens); blindness; hair loss (alopecia); abnormal changes to the perineum (the area between the anus and external genitalia); and small, skin-colored bumps (keratosis pilaris). Terminal lung disease has also been reported. The cause of HMD is thought to be an abnormality in desmosomes and gap junctions, which are structures involved in cell-to-cell contact. HMD typically follows autosomal dominant inheritance, but has occurred sporadically (in an individual who has no family history of the condition). Treatment typically focuses on individual symptoms of the condition." "" + "Muir-Torre syndrome" "Muir-Torre syndrome (MTS) is a form of hereditary nonpolyposis colon cancer (HNPCC) characterized by cutaneous sebaceous tumors, keratoacanthomas and at least one visceral malignancy, most frequently gastrointestinal carcinoma." "" + "palpebral sebaceous gland tumor" "A neoplasm (disease) that involves the sebaceous gland of eyelid." "" + "mullerian aplasia and hyperandrogenism" "Deficiency of the glycoprotein WNT4, associated with loss of function mutation(s) in the WNT4 gene. The condition in 46,XX individuals is characterized by mild hyperandrogenism, absence of underdevelopment of the uterus, and sometimes absence of underdevelopment of the vagina." "" + "partial bilateral aplasia of the mullerian ducts" "" + "syndrome with 46,XX disorder of sex development" "True" + "multiple exostoses with spastic tetraparesis" "" + "Cowden syndrome 1" "Any Cowden disease in which the cause of the disease is a mutation in the PTEN gene." "" + "Cowden disease" "" + "muscle cramps, familial" "" + "muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome" "This disorder is characterized by muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus." "" + "syndromic retinitis pigmentosa" "A retinitis pigmentosa that is part of a larger syndrome." "" + "neuronopathy, distal hereditary motor, type 7A" "Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the SLC5A7 gene." "" + "distal hereditary motor neuropathy type 7" "Distal hereditary motor neuropathy type 7 is a rare, slowly progressive genetic peripheral neuropathy characterized by distal atrophy and weakness affecting the upper limbs (with a predilection for the thenar eminence) and subsequently the lower limbs, associated with uni- or bilateral vocal cord paresis leading to hoarse voice and breathing difficulties, and facial weakness." "" + "neuronopathy, distal hereditary motor, type 2A" "Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the HSPB8 gene." "" + "distal hereditary motor neuropathy type 2" "" + "autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures" "" + "autosomal dominant childhood-onset proximal spinal muscular atrophy" "" + "muscular atrophy, malignant neurogenic" "" + "muscular dystrophy, Barnes type" "" + "muscular dystrophy" "Muscular dystrophy (MD) refers to a group of more than 30 genetic diseases characterized by progressive weakness and degeneration of the skeletal muscles that control movement. Some forms of MD are seen in newborns, infants or children, while others have late-onset and may not appear until middle age or later. The disorders differ in terms of the distribution and extent of muscle weakness (some forms of MD also affect cardiac muscle), age of onset, rate of progression, and pattern of inheritance. The prognosis for people with MD varies according to the type and progression of the disorder. There is no specific treatment to stop or reverse any form of MD. Treatment is supportive and may include physical therapy, respiratory therapy, speech therapy, orthopedic appliances used for support, corrective orthopedic surgery, and medicationsincluding corticosteroids, anticonvulsants (seizure medications), immunosuppressants, and antibiotics. Some individuals may need assisted ventilation to treat respiratory muscle weaknessor a pacemaker for cardiac (heart)abnormalities." "" + "Bethlem myopathy" "A usually autosomal dominant inherited movement disorder caused by mutations in the COL6A1, COL6A2, and COL6A3 genes. It is characterized by progressive muscle weakness and joint stiffness in the fingers, wrists, elbows, and ankles." "" + "facioscapulohumeral muscular dystrophy 1" "Any facioscapulohumeral muscular dystrophy in which the cause of the disease is a mutation in the FRG1 gene." "" + "facioscapulohumeral muscular dystrophy 2" "Any facioscapulohumeral muscular dystrophy in which the cause of the disease is a mutation in the SMCHD1 gene." "" + "obsolete autosomal dominant limb-girdle muscular dystrophy type 1A" "" "true" + "obsolete autosomal dominant limb-girdle muscular dystrophy type 1B" "Autosomal dominant limb-girdle muscular dystrophy type 1B (LGMD1B) is a subtype of autosomal dominant limb girdle muscular dystrophy characterized by a variable age of onset of progressive shoulder and hip girdle weakness, with inferior limbs usually being affected prior to upper limbs, and mild joint contractures. LGMD1B is also associated with cardiac dysrhythmias, including atrioventricular conduction blocks, and late-onset dilated cardiomyopathy, that may lead to sudden death." "" "true" + "muscular dystrophy, pseudohypertrophic, with Internalized capillaries" "" + "Becker muscular dystrophy" "Becker muscular dystrophy (BMD) is a neuromuscular disease characterized by progressive muscle wasting and weakness due to degeneration of skeletal, smooth and cardiac muscle." "" + "muscular hypoplasia, congenital universal, of Krabbe" "" + "myasthenia, limb-girdle, autoimmune" "" + "myelinated optic nerve fibers" "" + "ataxia-pancytopenia syndrome" "Ataxia-pancytopenia syndrome is a rare genetic disease characterized by cerebellar ataxia, cytopenias and predisposition to bone marrow failure and myeloid leukaemia. Neurologic features variably include slowly progressive cerebellar ataxia or balance impairment with cerebellar atrophy and periventricular white matter T2 hyperintensities in brain MRI, horizontal and vertical nystagmus, dysmetria, dysarthria, pyramidal tract signs and reduced nerve conduction velocity. Hematological abnormalities are variable and may be intermittent and include cytopenias of all cell lineages, immunodeficiency, myelodysplasia and acute myeloid leukemia." "" + "tropical spastic paraparesis" "Tropical spastic paraparesis is a chronic systemic immune-mediated inflammatory myeloneuropathy, more frequently reported in women than in men, that usually presents in adulthood with slowly progressive spastic paraparesis of the lower limbs, bladder and bowel dysfunction, and sensory disturbances in the lower extremities (e.g. paresthesia and dysesthesia) and that is associated with a human T-cell lymphotropic virus type 1 (HTLV-1) infection." "" + "transient myeloproliferative syndrome" "A myeloid proliferation occurring in newborns with Down syndrome. It is clinically and morphologically indistinguishable from acute myeloid leukemia and is associated with GATA1 mutations. The blasts display morphologic and immunophenotypic features of megakaryocytic lineage. In the majority of patients the myeloid proliferation undergoes spontaneous remission." "" + "Down syndrome" "Down syndrome is a chromosomal abnormality caused by the presence of a third (partial or total) copy of chromosome 21 and that is characterized by variable intellectual disability, muscular hypotonia, and joint laxity, often associated with a characteristic facial dysmorphism and various anomalies such as cardiac, gastrointestinal, or endocrine defects." "" + "myoclonic epilepsy, Hartung type" "" + "myoclonus and ataxia" "" + "myoclonic cerebellar dyssynergia" "A condition marked by progressive cerebellar ataxia combined with myoclonus usually presenting in the third decade of life or later. Additional clinical features may include generalized and focal seizures, spasticity, and dyskinesias. Autosomal recessive and autosomal dominant patterns of inheritance have been reported. Pathologically, the dentate nucleus and brachium conjunctivum of the cerebellum are atrophic, with variable involvement of the spinal cord, cerebellar cortex, and basal ganglia. (From Joynt, Clinical Neurology, 1991, Ch37, pp60-1)" "" + "myoclonus-cerebellar ataxia-deafness syndrome" "This syndrome is characterised by the association of myoclonus, cerebellar ataxia and sensorineural hearing loss." "" + "myoclonic dystonia 11" "Any myoclonus-dystonia syndrome in which the cause of the disease is a mutation in the SGCE gene." "" + "spinal muscular atrophy-progressive myoclonic epilepsy syndrome" "Spinal muscular atrophy-progressive myoclonic epilepsy syndrome is characterized by hereditary myoclonus and progressive distal muscular atrophy. Less than 10 cases have been reported. Treatment with clonazepam results in complete and lasting improvement of the myoclonus." "" + "variable age onset epilepsy" "An epilepsy syndrome that has an onset during variable ages and stages of life." "" + "autosomal dominant myoglobinuria" "Autosomal dominant myoglobinuria is a rare metabolic myopathy characterized by episodic myalgia with myoglobinuria which is induced by fever, viral or bacterial infection, prolonged exercise or alcohol abuse, and could, on occasion, lead to acute renal failure. Between episodes, patients may be asymptomatic or could present elevated creatine kinase levels and mild muscle weakness. There have been no further descriptions in the literature since 1997." "" + "muscular lipidosis" "" + "episodic ataxia type 1" "Episodic ataxia type 1 (EA1) is a frequent form of Hereditary episodic ataxia (EA) characterized by brief episodes of ataxia, neuromyotonia, and continuous interictal myokymia." "" + "autosomal dominant centronuclear myopathy" "Autosomal dominant centronuclear myopathy (AD-CNM) is an inherited neuromuscular disorder defined by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy." "" + "centronuclear myopathy" "Centronuclear myopathy (CNM) is an inherited neuromuscular disorder characterized by clinical features of a congenital myopathy and centrally placed nuclei on muscle biopsy." "" + "myopathy, distal, infantile-onset" "" + "distal myopathy" "Distal myopathy refers to a group of muscle diseases which share the clinical pattern of predominant weakness and atrophy beginning in the feet and/or hands." "" + "MYH7-related skeletal myopathy" "Laing distal myopathy, also called myopathy distal, type 1 (MPD1), is characterized by early-onset selective weakness of the great toe and ankle dorsiflexors, and a very slowly progressive course." "" + "qualitative or quantitative defects of beta-myosin heavy chain (MYH7)" "" + "congenital myopathy" "" + "tubular aggregate myopathy" "Tubular aggregate myopathy is a disorder that affects the skeletal muscles. Signs and symptoms typically begin in childhood and worsen over time. The leg muscles are most often affected, but the arm muscles may also be involved. Symptoms include muscle pain, cramping, weakness or stiffness; and exercise-induced muscle fatigue. Affected individuals may have an unusual walking style (gait) or difficulty running, climbing stairs, or getting up from a squatting position. Some individuals develop contractures. This condition may be caused by mutations in the STIM1 or ORAI1 genes. It is usually inherited in an autosomal dominant manner, but autosomal recessive inheritance has also been reported." "" + "myopathy with storage of glycoproteins and Glycosaminoglycans" "" + "myopia 2, autosomal dominant" "" + "juvenile dermatomyositis" "Juvenile dermatomyositis (JDM) is the early-onset form of dermatomyositis (DM), a systemic, autoimmune inflammatory muscle disorder, characterized by proximal muscle weakness, evocative skin lesion, and systemic manifestations." "" + "secondary interstitial lung disease specific to childhood associated with a connective tissue disease" "True" + "juvenile idiopathic inflammatory myopathy" "" + "myotonia congenita, autosomal dominant" "" + "myotonia congenita" "Myotonia congenita is characterised by slow muscle relaxation associated with hyperexcitation of the muscle fibres." "" + "myotonic dystrophy type 1" "Steinert disease, also known as myotonic dystrophy type 1, is a muscle disease characterized by myotonia and by multiorgan damage that combines various degrees of muscle weakness, arrhythmia and/or cardiac conduction disorders, cataract, endocrine damage, sleep disorders and baldness." "" + "Carney complex, type 1" "Any Carney complex in which the cause of the disease is a mutation in the PRKAR1A gene." "" + "Carney complex" "Carney complex (CNC) is characterized by spotty skin pigmentation, endocrine overactivity and myxomas." "" + "cylindrical spirals myopathy" "Cylindrical spirals myopathy is a rare form of congenital myopathy characterized by global muscle weakness, hypotonia, myotonia and cramps in the presence of cylindrical, spiral-shaped inclusions (located in the central and/or subsacrolemmal areas of muscle fibers) in skeletal muscle biopsy. Abnormal gait, scoliosis, epileptic encephalopathy and psychomotor delay may be associated." "" + "Naegeli-Franceschetti-Jadassohn syndrome" "Naegeli-Franceschetti-Jadassohn (NFJ) syndrome is a rare ectodermal dysplasia that affects the skin, sweat glands, nails, and teeth." "" + "nonsyndromic congenital nail disorder 1" "Nail dysplasia is an idiopathic nail dystrophy, beginning in early childhood, and characterised by excessive longitudinal striations and loss of nail luster affecting all 20 nails." "" + "nail-patella syndrome" "A rare hereditary patellar dysostosis characterized by nail hypoplasia or aplasia, aplastic or hypoplastic patellae, elbow dysplasia, and the presence of iliac horns as well as renal and ocular anomalies." "" + "onycho-patellar syndrome with eye involvement" "True" + "narcolepsy 1" "A rare disorder characterized by sudden and transient episodes of loss of muscle tone. It often follows an experience of intense emotions. It is seen in patients with narcolepsy." "" + "narcolepsy" "A sleep disorder characterized by a tendency for excessive sleepiness during the day which occurs even after adequate sleep in the nighttime. The persons who suffer from this condition experience fatigue and may fall asleep at inappropriate times during the day." "" + "narcolepsy-cataplexy syndrome" "Narcolepsy with cataplexy is a sleep disorder characterized by excessive day-time sleepiness associated with uncontrollable sleep urges and cataplexy (loss of muscle tone often triggered by pleasant emotions)." "" + "nasal alar collapse, bilateral" "" + "nasal bones, absence of" "" + "nasal groove, familial transverse" "" + "nasal hyperpigmentation, familial transverse" "" + "nasopharyngeal carcinoma, susceptibility to, 2" "" + "nasopharyngeal carcinoma" "A carcinoma arising from the nasopharyngeal epithelium. It includes the following types: keratinizing squamous cell carcinoma, nonkeratinizing carcinoma (differentiated and undifferentiated), basaloid squamous cell carcinoma, and papillary adenocarcinoma." "" + "navicular bone, accessory" "" + "necrotizing encephalomyelopathy, subacute, of Leigh, adult" "" + "Leigh syndrome" "A progressive neurological disease defined by specific neuropathological features associating brainstem and basal ganglia lesions." "" + "nemaline myopathy 3" "An inherited myopathy caused by mutations in the ACTA1 gene, encoding actin, alpha skeletal muscle. The phenotype is highly variable, and as such attempts at classification by clinical features is not optimal. Generally, affected individuals have generalized muscle weakness, typically involving proximal muscles, the face, bulbar and respiratory muscles." "" + "nemaline myopathy" "Nemaline myopathy (NM) encompasses a large spectrum of myopathies characterized by hypotonia, weakness and depressed or absent deep tendon reflexes, with pathologic evidence of nemaline bodies (rods) on muscle biopsy." "" + "severe congenital nemaline myopathy" "Severe congenital nemaline myopathy is a severe form of nemaline myopathy (NM) characterized by severe hypotonia with little spontaneous movement in neonates." "" + "intermediate nemaline myopathy" "Intermediate nemaline myopathy is a type of nemaline myopathy (NM) that shows features of typical NM in neonates with a more severe progression." "" + "typical nemaline myopathy" "Typical nemaline myopathy is a moderate neonatal form of nemaline myopathy (NM) characterized by facial and skeletal muscle weakness and mild respiratory involvement." "" + "childhood-onset nemaline myopathy" "Childhood onset nemaline myopathy, or mild nemaline myopathy is a type of nemaline myopathy (NM) characterized by distal muscle weakness, and sometimes slowness of muscle contraction." "" + "alpha-actinopathy" "A musculoskeletal system disorder that covers a wide spectrum of phenotypes and is caused by pathogenic variants in the skeletal muscle α-actin gene (ACTA1). These variants lead to a variety of overlapping adult onset and congenital myopathies characterized by muscle weakness, hypotonia, myopathic face, respiratory dysfunction, and rarely cardiac involvement. Specific skeletal muscle structural lesions visible on muscle biopsy include actin accumulations, nemaline and intranuclear bodies, fiber-type disproportion, cores, caps, dystrophic features and zebra bodies. Disorders associated with ACTA1 pathogenic variants can have autosomal dominant (90%) or recessive (10%) inheritance." "" + "autosomal dominant progressive nephropathy with hypertension" "" + "IgA nephropathy, susceptibility to, 1" "" + "familial juvenile hyperuricemic nephropathy type 1" "A rare kidney disorder characterized by hyperuricemia, progressive nephropathy, and gout occurring at an early age." "" + "familial cystic renal disease" "An instance of cystic kidney disease that is caused by an inherited modification of the individual's genome." "" + "autosomal dominant medullary cystic kidney disease with or without hyperuricemia" "A genetic kidney disease that causes progressive loss of kidney function caused by mutations in the genes encoding uromodulin (UMOD), hepatocyte nuclear factor-1β (HNF1B), renin (REN), or mucin-1 (MUC1)." "" + "obsolete nerve growth factor, alpha subunit" "" "true" + "neurofibromatosis type 3" "Neurofibromatosis (NF) type 3 (NF3), also known as schwannomatosis, is the least frequent form of the rare genetic disorder neurofibromatosis. It is clinically and genetically distinct from NF1 and NF2 and is characterized by the development of multiple schwannomas (nerve sheath tumors), without involvement of the vestibular nerves. NF3 develops in adulthood and is often associated with chronic pain. Dysesthesia and paresthesia may also be present. Common localizations include the spine, peripheral nerves, and the cranium." "" + "amyotrophic neuralgia" "An autosomal dominant form of recurrent focal neuropathy characterized clinically by acute, recurrent episodes of brachial plexus neuropathy with muscle weakness and atrophy preceded by severe pain in the affected arm." "" + "neuralgic amyotrophy" "Neuralgic amyotrophy (NA) is an uncommon disorder of the peripheral nervous system characterized by the sudden onset of extreme pain in the upper extremity followed by rapid multifocal motor weakness and atrophy and a slow recovery in months to years. NA includes both an idiopathic (INA, also known as Parsonage-Turner syndrome) and hereditary (HNA) form." "" + "obsolete neurofibromatosis, type 1" "" "true" + "neurofibromatosis, familial spinal" "" + "neurofibromatosis type 1" "Neurofibromatosis type 1 (NF1) is a clinically heterogeneous, neurocutaneous genetic disorder characterized by cafe-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, and multiple neurofibromas." "" + "neurofibromatosis-pheochromocytoma-duodenal carcinoid syndrome" "" + "neurofibromatosis, type III, mixed central and peripheral" "" + "neurofibromatosis, type IV, of Riccardi" "" + "multiple endocrine neoplasia type 2B" "Multiple endocrine neoplasia 2B (MEN2B) syndrome is a rare aggressive form of MEN2 characterized by medullary thyroid carcinoma (MTC), pheochromocytoma, mucosal ganglioneuroma, and marfanoid habitus." "" + "ceroid lipofuscinosis, neuronal, 4 (Kufs type)" "A condition associated with mutation(s) in the DNAJC5 gene, encoding dnaJ homolog subfamily C member 5. The condition is one of a group of genetically heterogeneous neurodegenerative disorders, characterized by accumulation of intracellular lipopigments." "" + "adult neuronal ceroid lipofuscinosis" "A genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs) with onset during the third decade of life, characterized by dementia, seizures and loss of motor capacities, and sometimes associated with visual loss caused by retinal degeneration." "" + "neuropathy, congenital, with arthrogryposis multiplex" "" + "neuropathy, hereditary sensorimotor, with upper motor neuron, visual pathway and autonomic disturbance" "" + "neuropathy, hereditary sensory and autonomic, type 1A" "An axonal form of hereditary motor and sensory neuropathy distinguished by prominent early sensory loss and later positive sensory phenomena, caused by mutations in SPTLC1." "" + "hereditary sensory and autonomic neuropathy type 1" "Hereditary sensory neuropathy type I (HSN I) is a slowly progressive neurological disorder characterised by prominent predominantly distal sensory loss, autonomic disturbances, autosomal dominant inheritance, and juvenile or adulthood disease onset." "" + "hereditary neuropathy with liability to pressure palsies" "Hereditary neuropathy with liability to pressure palsies (HNPP) is an inherited peripheral nerve disorder characterized by recurrent mononeuropathy usually triggered by minor physical activities." "" + "chromosome 17p deletion" "A cytogenetic abnormality that refers to the allelic loss of all or part of the short arm of chromosome 17." "" + "neuropathy, with paraprotein in serum, cerebrospinal fluid and urine" "" + "neutropenia, chronic familial" "" + "cyclic hematopoiesis" "A hematologic disorder caused by a mutation in the ELANE (ELA2) gene; clinical manifestations include recurrent neutropenia with resultant susceptibility to infection leading to fever." "" + "constitutional neutropenia" "A rare disorder characterized by recurrent infantile infections and absence of neutrophils in the peripheral blood." "" + "obsolete abnormal neutrophil chemotactic response" "" "true" + "hereditary neutrophilia" "A leukocyte disease characterized by autosomal dominant inheritance of lifelong, persistent elevated neutrophil counts primarily consisting of segmented neutrophils that has material basis in heterozygous mutation in the CSF3R gene on chromosome 1p34." "" + "nevus, epidermal" "A benign, pigmented skin growth caused by an overgrowth of the epidermis. It is typically seen at birth, but can develop in early childhood or later in life. Most cases are sporadic, but familial patterns of inheritance have been observed." "" + "familial multiple nevi flammei" "A congenital vascular malformation in the skin (birthmark) characterized by the presence of dilated capillaries. The affected area of the skin is flat and reddish-purplish in color." "" + "nevus anemicus" "A capillary vascular anomaly that is characterized by hypopigmented macules." "" + "nevus flammeus of nape of neck" "" + "linear nevus sebaceus syndrome" "Linear nevus sebaceous syndrome (LNSS) is characterized by the association of a large sebaceous nevus, usually appearing on the face or on the scalp, with a broad spectrum of abnormalities that may affect every organ system, including the central nervous system (brain neoplasms, hemimegalencephaly and lateral ventricle enlargement)." "" + "palpebral nevus" "A melanocytic nevus that involves the skin of eyelid." "" + "bulbar conjunctival dermoid or conjunctival dermolipoma" "" + "mesomelic dwarfism, Nievergelt type" "" + "congenital stationary night blindness autosomal dominant 2" "Any congenital stationary night blindness in which the cause of the disease is a mutation in the PDE6B gene." "" + "congenital stationary night blindness" "" + "nipples inverted" "" + "familial supernumerary nipples" "Familial supernumerary nipples is a rare breast malformation characterized by the presence, in various members of a single family, of one or more nipple(s) and/or their related tissue, in addition to the normal bilateral chest nipples. The anomaly is usually situated along the embryonic milk line, from axillae to inguinal regions, but other locations are also possible. Association with dental abnormalities, Becker nevus, renal or underlying breast tissue malignancy and genitourinary malformations has been reported." "" + "supernumerary breasts" "" + "sick sinus syndrome 2, autosomal dominant" "Any sick sinus syndrome in which the cause of the disease is a mutation in the HCN4 gene." "" + "familial sick sinus syndrome" "Sick sinus syndrome is a rare cardiac rhythm disease, usually of the elderly, characterized by electrocardiographic findings of sinus bradycardia, atrial fibrillation, atrial tachycardia sinus arrest, or sino-atrial block, and that manifest with symptoms like syncope, dizziness, palpitations, fatigue, or even heart failure. It results from malfunction of the cardiac conduction system, probably secondary to degenerative fibrosis of nodal tissue in the elderly or secondary to cardiac disorders in younger patients." "" + "noduli Cutanei, multiple, with urinary tract abnormalities" "" + "Noonan syndrome 1" "Noonan syndrome caused by mutations in the PTPN11 gene." "" + "Noonan syndrome" "Noonan Syndrome (NS) is characterised by short stature, typical facial dysmorphism and congenital heart defects." "" + "nose, anomalous shape of" "" + "nystagmus 2, congenital, autosomal dominant" "" + "nystagmus, hereditary vertical" "" + "oculocerebrocutaneous syndrome" "Oculocerebrocutaneous syndrome (OCCS) is a rare congenital disorder associated with an intellectual disability and is typically characterized by the triad of eye, central nervous system and skin malformations." "" + "epilepsy syndrome" "" + "ocular cicatricial pemphigoid" "Ocular cicatricial pemphigoid (OCP) is a form of mucous membrane pemphigoid (a group of rare, chronic autoimmune disorders) that affects the eyes. In the early stages, people with OCPgenerally experience chronic or relapsing conjunctivitis that is often characterized by tearing, irritation, burning, and/or mucus drainage. If left untreated, OCP can progress to severe conjunctiva scarring and vision loss. Involvement of other mucosal sites and the skin may also occur in OCP. The exact underlying cause is currently unknown. The treatment of OCP aims to slow disease progression and prevent complications. This usually involves long-term use of medications called immunomodulators which help regulate or normalize the immune system." "" + "mucous membrane pemphigoid" "Mucous membrane pemphigoid is a bullous dermatosis characterised clinically by blistering of the mucous membranes followed by scarring, and immunologically by IgG, IgA and/or C3 deposits on the epidermal basement membrane." "" + "ocular dominance" "" + "oculodentodigital dysplasia" "Oculodentodigital dysplasia (ODDD) is characterized by craniofacial, neurologic, limb and ocular abnormalities." "" + "obsolete Goldenhar syndrome" "" "true" + "Schilbach-Rott syndrome" "Schilbach-Rott syndrome (SRS) is an autosomal dominant dysmorphic disorder that is characterized by dysmorphic facies with hypotelorism, blepharophimosis, and cleft palate, and the frequent occurrence of hypospadias in males." "" + "obsessive-compulsive disorder" "A disorder characterized by the presence of persistent and recurrent irrational thoughts (obsessions), resulting in marked anxiety and repetitive excessive behaviors (compulsions) as a way to try to decrease that anxiety." "" + "Feingold syndrome type 1" "Feingold syndrome type 1 (FS1) is a rare inherited malformation syndrome characterized by microcephaly, short stature and numerous digital anomalies." "" + "Feingold syndrome" "Feingold syndrome (FS), also known as oculo-digito-esophageal-duodenal (ODED) syndrome, is a rare inherited malformation syndrome characterized by microcephaly, short stature and numerous digital anomalies and is comprised of two subtypes: FS type 1 (FS1) and FS type 2 (FS2). FS1 is by far the most common form while FS2 has only been reported in 3 patients and has the same clinical characteristics as FS1, apart from the absence of gastrointestinal atresia and short palpebral fissures." "" + "oculopharyngeal muscular dystrophy" "Oculopharyngeal muscular dystrophy (OPMD) is an adult-onset progressive myopathy characterized by progressive eyelid ptosis, dysphagia, dysarthria and proximal limb weakness." "" + "obsolete oculopharyngodistal myopathy" "" "true" + "odontomatosis-aortae esophagus stenosis syndrome" "Odontoma-dysphagia syndrome is a malformation syndrome, characterized by odontomas (undifferentiated mass of the esophagus) and severe dysphagia." "" + "spinocerebellar ataxia type 1" "Spinocerebellar ataxia type 1 (SCA1) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I) characterized by dysarthria, writing difficulties, limb ataxia, and commonly nystagmus and saccadic abnormalities." "" + "spinocerebellar ataxia type 7" "Spinocerebellar ataxia type 7 (SCA7), currently the only known form of autosomal dominant cerebellar ataxia type 2 (ADCA2), is a neurodegenerative disorder characterized by progressive ataxia, motor system abnormalities, dysarthria, dysphagia and retinal degeneration leading to progressive blindness." "" + "autosomal dominant cerebellar ataxia type II" "" + "onychogryposis, pedal, with keratosis plantaris and coarse hair" "" + "obsolete olivopontocerebellar atrophy 5" "" "true" + "autosomal dominant omodysplasia" "Autosomal dominant form of omodysplasia." "" + "omodysplasia" "Omodysplasia is a rare skeletal dysplasia characterized by severe limb shortening and facial dysmorphism. Two types of omodysplasia have been described: an autosomal recessive or generalized form (also referred to as micromelic dysplasia with dislocation of radius) marked by severe micromelic dwarfism with predominantly rhizomelic shortening of both the upper and lower limbs, and an autosomal dominant form in which stature is normal and shortening is limited to the upper limbs." "" + "omphalocele, autosomal" "" + "omphalocele" "Omphalocele is an embryopathy classified in the group of abdominal celosomias and is characterized by a large hernia of the abdominal wall, centered on the umbilical cord, in which the protruding viscera are protected by a sac." "" + "nonsyndromic congenital nail disorder 5" "" + "obsolete oncogene Yuasa" "" "true" + "ophthalmomandibulomelic dysplasia" "Ophthalmomandibulomelic dysplasia is characterized by complete blindness due to corneal opacities, difficult mastication due to temporomandibular fusion and anomalies of the arms." "" + "ophthalmoplegia, familial static" "" + "ophthalmoplegia, familial total, with iris transillumination" "" + "ophthalmoplegia-intellectual disability-lingua scrotalis syndrome" "" + "optic atrophy, hearing loss, and peripheral neuropathy, autosomal dominant" "" + "optic atrophy with demyelinating disease of CNS" "" + "Leber plus disease" "Leber `plus' disease describes patients with the clinical features of Leber's hereditary optic neuropathy (LHON; see term) in combination with other serious systemic or neurological abnormalities. These abnormalities include: postural tremor, motor disorder, multiple sclerosis-like syndrome, spinal cord disease, skeletal changes, Parkinsonism with dystonia, anarthria, dystonia, motor and sensory peripheral neuropathy, spasticity and mild encephalopathy. It is caused by maternally-inherited mitochondrial DNA (mtDNA) mutations." "" + "optic atrophy 3" "" + "autosomal dominant optic atrophy" "An autosomal dominant hereditary condition characterized by optic atrophy and progressive visual loss." "" + "mitochondrial oxidative phosphorylation disorder with no known mechanism" "True" + "autosomal dominant optic atrophy, classic form" "Autosomal dominant optic atrophy (ADOA) is one of the most common forms of hereditary optic neuropathy characterized by progressive bilateral visual loss during the first decade of life, associated with optic disc pallor, visual field and color vision defects." "" + "optic atrophy 13 with retinal and foveal abnormalities" "" + "hereditary optic atrophy" "A family of inherited disorders characterized by progressive loss of vision secondary to death of the retinal ganglion cell axons that comprise the optic nerve." "" + "isolated optic nerve hypoplasia" "" + "hereditary optic neuropathy" "" + "orofaciodigital syndrome X" "Oral-facial-digital syndrome, type 10 is characterized by facial (telecanthus, flat nasal bridge, retrognathia), oral (cleft palate, vestibular frenula) and digital (oligodactyly, preaxial polydactyly) features, associated with remarkable radial shortening, fibular agenesis and coalescence of tarsal bones. The syndrome has been described in one 10-month-old girl. No new cases have been described since 1993." "" + "orofaciodigital syndrome" "Two syndromes of oral, facial, and digital malformations. Type I (Papillon-Leage and Psaume syndrome, Gorlin-Psaume syndrome) is inherited as an X-linked dominant trait and is found only in females and XXY males. Type II (Mohr syndrome) is inherited as an autosomal recessive trait." "" + "syndromic orbital border hypoplasia" "Syndromic orbital border hypoplasia is a rare disorder observed in two families to date and characterized by agenesis of the orbital margin, varying defects of the lacrimal passages, hypoplasia of the palpebral skin and tarsal plates and atresia of the nasolacrimal duct." "" + "OSLAM syndrome" "OSLAM syndrome is characterised by the association of osteosarcoma, limb anomalies (clinodactyly with brachymesophalangy, bilateral radioulnar synostosis and absence of one digital ray of the foot) and red cell macrocytosis without anaemia." "" + "ossified ear cartilages" "" + "ossicular malformations, familial" "" + "Thiemann disease, familial form" "Thiemann disease is a very rare genetic necrotic bone disorder characterized clinically by painless swelling of the proximal interphalangeal joints associated with osteonecrosis of epiphyses followed by osteoarthritic changes, with onset before 25 years of age and often a benign course." "" + "osteochondrosis of genetic origin" "An instance of osteochondrosis that is caused by a modification of the individual's genome." "" + "osteoarthritis susceptibility 1" "Any osteoarthritis in which the cause of the disease is a mutation in the FRZB gene." "" + "obsolete osteochondritis dissecans" "" "true" + "Ollier disease" "A rare primary bone dysplasia disorder characterized by the development of multiple mainly unilateral or asymmetrically distributed enchondromas throughout the metaphyses of the long bones." "" + "osteogenesis imperfecta type 1" "Osteogenesis imperfecta type I is a mild type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures." "" + "osteogenesis imperfecta" "Osteogenesis imperfecta (OI) comprises a heterogeneous group of genetic disorders characterized by increased bone fragility, low bone mass, and susceptibility to bone fractures with variable severity." "" + "osteogenesis imperfecta type 2" "Osteogenesis imperfecta type II is a lethal type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. Patients with type II present multiple rib and long bone fractures at birth, marked deformities, broad long bones, low density on skull X-rays, and dark sclera." "" + "osteogenesis imperfecta type 4" "Osteogenesis imperfecta type IV is a moderate type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. Patients with type IV have moderately short stature, mild to moderate scoliosis, grayish or white sclera, and dentinogenesis imperfecta (DI)." "" + "osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones but without fractures" "An osteogenesis imperfecta found in a single South African family." "" + "osteoglophonic dwarfism" "Osteoglophonic dwarfism (OGD) is characterized by dwarfism, severe craniofacial abnormalities and multiple unerupted teeth." "" + "gnathodiaphyseal dysplasia" "Gnathodiaphyseal dysplasia (GDD) is a bone dysplasia characterized by bone fragility, frequent bone fractures at a young age, cemento-osseous lesions of the jaw bones, bowing of tubular bones (tibia and fibula) and diaphyseal sclerosis of long bones associated with generalized osteopenia. GD follows an autosomal dominant mode of transmission." "" + "multicentric carpo-tarsal osteolysis with or without nephropathy" "Idiopathic multicentric osteolysis is a very rare syndrome characterized by progressive loss of bone, usually the capsal and tarsal bones, resulting in deformity and disability, as well as chronic renal failure in many cases. The bone and renal disorders are sometimes associated with intellectual deficit and facial abnormalities." "" + "progressive osseous heteroplasia" "A rare genetic bone disorder characterized clinically by progressive extraskeletal bone formation presenting in early life with cutaneous ossification, that progressively involves subcutaneous and then subsequently deep connective tissues, including muscle and fascia. POH overlaps with a number of related genetic disorders including Albright hereditary osteodystrophy, pseudohypoparathyroidism (see these terms), and primary osteoma cutis, that share the common features of superficial heterotopic ossification in association with inactivating mutations of GNAS gene (20q13.2-q13.3), coding for guanine nucleotide-binding proteins. POH can, however, be distinguished clinically by the deep and progressive nature of the heterotopic bone formation." "" + "osteomas of mandible" "" + "benign neoplasm of lower jaw bone" "A benign neoplasm that involves the bone of lower jaw." "" + "osteomesopyknosis" "Osteomesopyknosis is a very rare benign bone disorder characterized by bone dysplasia manifested by patchy sclerosis of the axial skeleton and increased bone mineral content." "" + "autosomal dominant osteopetrosis 2" "A sclerosing disorder of the skeleton characterized by increased bone density that classically displays the radiographic sign of ''sandwich vertebrae'' (dense bands of sclerosis parallel to the vertebral endplates)." "" + "autosomal dominant osteopetrosis" "Autosomal dominant form of osteopetrosis (disease)." "" + "obsolete unclassified primitive or secondary maculopathy" "" "true" + "Buschke-Ollendorff syndrome" "Buschke-Ollendorff syndrome (BOS) is a benign disorder characterized by the association of osteopoikilosis lesions (``spotted bones'') in the skeleton and connective tissue nevi in the skin." "" + "laminopathy" "A rare genetic disorder caused by mutations in genes encoding proteins of the nuclear lamina." "" + "dacryocystitis-osteopoikilosis syndrome" "Dacryocystitis - osteopoikilosis is an exceedingly rare autosomal dominant disorder reported in only a few patients to date and is characterized by dacryocystitis due to lacrimal canal stenosis,and osteopoikilosis (demonastratedr adiologically as discrete spherical osteosclerotic lesions of 2-10mm in diameter)." "" + "postmenopausal osteoporosis" "Metabolic disorder associated with fractures of the femoral neck, vertebrae, and distal forearm. It occurs commonly in women within 15-20 years after menopause, and is caused by factors associated with menopause including estrogen deficiency." "" + "osteosclerosis with ichthyosis and fractures" "" + "otodental syndrome" "Otodental syndrome is a very rare inherited condition characterized by grossly enlarged canine and molar teeth (globodontia) associated with sensorineural hearing loss." "" + "otitis media, susceptibility to" "" + "otofaciocervical syndrome" "Otofaciocervical syndrome is a rare, genetic developmental defect during embryogenesis characterized by distinct facial features (long triangular face, broad forehead, narrow nose and mandible, high arched palate), prominent, dysmorphic ears (low-set and cup-shaped with large conchae and hypoplastic tragus, antitragus and lobe), long neck, preauricular and/or branchial fistulas and/or cysts, hypoplastic cervical muscles with sloping shoulders and clavicles, winged, low, and laterally-set scapulae, hearing impairment and mild intellectual deficit. Vertebral defects and short stature may also be associated." "" + "otosclerosis 1" "" + "southeast Asian ovalocytosis" "Southeast Asian ovalocytosis (SAO) is a rare hereditary red cell membrane defect characterized by the presence of oval-shaped erythrocytes and with most patients being asymptomatic or occasionally manifesting with mild symptoms such as pallor, jaundice, anemia and gallstones." "" + "hereditary stomatocytosis" "" + "ovalocytosis, hereditary hemolytic, with defective erythropoiesis" "" + "dermoid cyst of ovary" "A cystic teratoma that arises from the ovary. It presents as a cystic mass that contains sebaceous material admixed with hairs. In a minority of cases it is bilateral." "" + "ovarian fibroma" "A benign neoplasm arising from soft tissue of the ovary. It is characterized by the presence of spindle-shaped fibroblasts." "" + "osteochondrodysplasia, rhizomelic, with callosal agenesis, thrombocytopenia, hydrocephalus, and hypertension" "" + "hypertrophic osteoarthropathy, primary, autosomal dominant" "" + "primary hypertrophic osteoarthropathy" "A genetically and clinically heterogeneous inherited disorder characterized by digital clubbing and osteoarthropathy, with variable features of pachydermia, delayed closure of the fontanels, and congenital heart disease. There are two types of PHO: pachydermoperiostosis and cranio-osteoarthropathy." "" + "pachyonychia congenita 1" "Any pachyonychia congenita in which the cause of the disease is a mutation in the KRT16 gene." "" + "pachyonychia congenita 2" "Any pachyonychia congenita in which the cause of the disease is a mutation in the KRT17 gene." "" + "pacman dysplasia" "Pacman dysplasia is characterized by epiphyseal stippling and osteoclastic overactivity. It has been described in less than 10 patients but may be underdiagnosed. It is characterized radiographically by severe stippling of the lower spine and long bones, and periosteal cloaking. Patients also have short metacarpals. The syndrome may be inherited as an autosomal recessive trait. This disorder should be included in the differential diagnosis of mucolipidosis type II. In order to make a definitive diagnosis, lysosomal storage should be investigated by electron microscopy, or enzyme assays should be performed. Familial recurrence can be easily detected by prenatal ultrasonography. This skeletal dysplasia is lethal." "" + "Paget disease of bone 3" "" + "inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1" "A rare autosomal dominant inherited disorder caused by mutations in the VCP gene. It can affect the muscles, bones, and brain. Patients may develop myopathy that initially involves the muscles of the hips and shoulders and as the disorder progresses it may affect the cardiac and respiratory muscles, leading to life-threatening cardiac and pulmonary failure. Approximately half of the adults develop Paget disease of bone, and approximately one-third develop frontotemporal dementia." "" + "paroxysmal extreme pain disorder" "Paroxysmal extreme pain disorder is a rare disorder of abnormal pain sensation." "" + "congenital velopharyngeal incompetence" "Failure of the soft palate to reach the posterior pharyngeal wall to close the opening between the oral and nasal cavities. Incomplete velopharyngeal closure is primarily related to surgeries (adenoidectomy; cleft palate) or an incompetent palatopharyngeal sphincter. It is characterized by hypernasal speech." "" + "palmaris longus muscle, absence of" "" + "nasopalpebral lipoma-coloboma syndrome" "Nasopalpebral lipoma-coloboma-telecanthus syndrome is characterized by nasopalpebral lipomas, bilateral lid coloboma, and telecanthus." "" + "annular pancreas" "Annular pancreas is a distinct form of duodenal atresia in which the head of the pancreas forms a ring around the second portion of the duodenum." "" + "non-syndromic visceral malformation" "" + "pancreas, dorsal, agenesis of" "" + "pancreatic agenesis" "Partial agenesis of the pancreas is characterized by the congenital absence of a critical mass of pancreatic tissue." "" + "hereditary chronic pancreatitis" "Hereditary chronic pancreatitis (HCP), a rare inherited form of pancreatitis is defined as recurrent acute pancreatitis and/or chronic pancreatitis in two first-degree relatives or 3 or more second-degree relatives in 2 or more generations, for which no predisposing factors are identified. HCP is characterized by irreversible damage to both exocrine and endocrine components of the pancreas." "" + "pancytopenia and occlusive vascular disease" "" + "panic disorder 1" "" + "papillomatosis, confluent and reticulated" "" + "papillomatosis, florid, of nipple" "A rare benign neoplasm that arises in the area of the nipple. Clinically, it usually presents as a tender erythematous crusting lesion with hardening of the nipple. Morphologically, there is proliferation of ducts lined with epithelial and myoepithelial cells and focal erosion of the epidermis." "" + "obsolete human papillomavirus type 18 integration site 1" "" "true" + "obsolete human papillomavirus type 18 integration site 2" "" "true" + "paragangliomas 1" "Any paraganglioma in which the cause of the disease is a mutation in the SDHD gene." "" + "paralysis agitans, juvenile, of Hunt" "" + "parkinsonian-pyramidal syndrome" "A Parkinson's disease that has material basis in mutation in the FBXO7 gene on chromosome 22q12.3." "" + "Paramolar tubercle of bolk" "" + "paramyotonia congenita of Von Eulenburg" "Paramyotonia congenita of Von Eulenburg is characterised by exercise- or cold-induced myotonia and muscle weakness. Prevalence is unknown. The syndrome is nonprogressive and is transmitted as an autosomal dominant trait. It is caused by mutations in the gene encoding the alpha subunit of the type IV voltage-gated sodium channel (SCN4A; 17q23.3)." "" + "myotonic syndrome" "" + "muscular channelopathy" "A channelopathy that involves the muscle tissue." "" + "parastremmatic dwarfism" "Parastremmatic dwarfism is a very rare chondrodysplasia characterized by severe dwarfism, kyphoscoliosis, stiffness of large joints and distortion of lower limbs." "" + "parietal foramina 1" "Any parietal foramina in which the cause of the disease is a mutation in the MSX2 gene." "" + "parietal foramina" "Enlarged parietal foramina (EPF) is a developmental defect, characterized by variable intramembranous ossification defects of the parietal bones, which is either asymptomatic, symptomatic (headaches, nausea, vomiting, intellectual disability) or associated with other pathologies." "" + "parietal foramina with cleidocranial dysplasia" "Parietal foramina with clavicular hypoplasia is a rare genetic bone development disorder characterized by parietal foramina in association with hypoplasia of the clavicles (short abnormal clavicles with tapering lateral ends, with or without loss of the acromion). Additional features may include mild craniofacial dysmorphism (macrocephaly, broad forehead and frontal bossing). No dental abnormalities were reported." "" + "late-onset Parkinson disease" "A Parkinson disease that begins after around the age of 50." "" + "autosomal dominant Parkinson disease 1" "" + "Perry syndrome" "Perry syndrome is a rare inherited neurodegenerative disorder characterized by rapidly progressive early-onset parkinsonism, central hypoventilation, weight loss, insomnia and depression." "" + "Parotidomegaly, hereditary bilateral" "" + "Passovoy factor defect" "" + "obsolete patella aplasia, coxa vara, and tarsal synostosis" "" "true" + "patella aplasia/hypoplasia" "Isolated patella aplasia-hypoplasia is an extremely rare genetic condition characterized by congenital absence or marked reduction of the patellar bone described in only a few families to date." "" + "non-syndromic limb malformation" "" + "benign paroxysmal tonic upgaze of childhood with ataxia" "Benign paroxysmal tonic upgaze of childhood with ataxia is a rare paroxysmal movement disorder characterized by episodes of sustained, conjugate, upward deviation of the eyes and down beating saccades in attempted downgaze (with preserved horizontal eye movements) which is accompanied by ataxic symptomatology (unsteady gait, lack of balance and movement coordination disturbances) in an otherwise healthy individual. Bilateral vertical nystagmus is associated. Symptoms generally disappear spontaneously within 1-2 years after onset." "" + "chondromalacia patellae" "Familial chondromalacia patellae is an inherited bone disorder described in 5 families in 1963 and is characterized by localized patellar pain and male-to-male transmission." "" + "patella, familial recurrent dislocation of" "" + "Char syndrome" "Char syndrome is characterized by the triad of patent ductus arteriosus (PDA), facial dysmorphism and hand anomalies." "" + "patent ductus arteriosus" "A congenital defect characterized by the failure of the ductus arteriosus to close soon after birth. As a consequence, blood from the aorta mixes with blood from the pulmonary artery. If untreated, it may lead to congestive heart failure." "" + "patterned macular dystrophy 1" "Any patterned macular dystrophy in which the cause of the disease is a mutation in the PRPH2 gene." "" + "patterned macular dystrophy" "A macular degeneration characterized by abnormal accumulation of lipofuscin in the retinal pigment epithelium in a distinct pattern, patterns include; reticular ('fishnet-like'), macroreticular ('spider-shaped'), and butterfly-shaped." "" + "pseudoleprechaunism syndrome, Patterson type" "Pseudoleprechaunism syndrome, Patterson type is a rare, genetic, adrenal disorder characterized by congenital bronzed hyperpigmentation, cutis laxa of the hands and feet, body disproportion (comprising large hands, feet, nose and ears), hirsutism and severe intellectual disability. Patients additionally present hyperadrenocorticism, cushingoid features, premature adrenarche and diabetes mellitus, as well as skeletal deformities (not present at birth and which progress with age). There have been no further descriptions in the literature since 1981." "" + "Pechet factor deficiency" "" + "pectus excavatum" "A developmental anomaly in which the lower sternum is posteriorly dislocated and concavely deformed, resulting in a funnel-shaped thorax." "" + "Pelger-Huet anomaly" "An autosomal dominant inherited condition caused by mutations in the lamin B receptor gene. It is characterized by defects in the neutrophil lobulation, resulting in the presence of dumbbell-shaped neutrophils with bilobed nuclei in the peripheral blood smear." "" + "adult-onset autosomal dominant demyelinating leukodystrophy" "Adult-onset autosomal dominant leukodystrophy (ADLD) is a rare slowly progressive neurological disorder involving centralnervous systemdemyelination, leading to autonomic dysfunction,ataxia and mild cognitive impairment." "" + "partial trisomy of the long arm of chromosome 5" "Chromosome 5q duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the long arm (q) of chromosome 5. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 5q duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Chromosome 5q duplication can be de novo or inherited from a parent with a chromosomal rearrangement such as a balanced translocation. Treatment is based on the signs and symptoms present in each person." "" + "pelvic lipomatosis with crossed renal ectopia" "" + "pelvis-shoulder dysplasia" "Pelvis-shoulder dysplasia is a rare focal skeletal dysostosis characterized by symmetrical hypoplasia of the scapulae and the iliac wings of the pelvis." "" + "Hailey-Hailey disease" "Benign chronic familial pemphigus of Hailey-Hailey is characterized by rhagades mostly located in the armpits, inguinal and perineal folds (scrotum, vulva)." "" + "pemphigus vulgaris" "Pemphigus is a group of chronic autoimmune skin diseases characterized by blister formations on the outer layer of the skin and the mucous membranes. Three clinical forms have been characterised, of which pemphigus vulgaris is the most frequent (75%)." "" + "obsolete pepsinogen 3, group 1" "" "true" + "prolidase deficiency" "Prolidase deficiency is an inherited disorder of peptide metabolism characterized by severe skin lesions, recurrent infections (involving mainly the skin and respiratory system), dysmorphic facial features, variable cognitive impairment, and splenomegaly." "" + "inborn disorder of peptide metabolism" "" + "metabolic disease with skin involvement" "True" + "Andersen-Tawil syndrome" "Andersen's syndrome (AS) is a rare disorder characterized by periodic muscle paralysis, prolongation of the QT interval with a variety of ventricular arrhythmias (leading to predisposition to sudden cardiac death) and characteristic physical features: short stature, scoliosis, low-set ears, hypertelorism, broad nasal root, micrognathia, clinodactyly, brachydactyly and syndactyly." "" + "hypokalemic periodic paralysis" "Hypokalemic periodic paralysis (hypoPP) is characterised by episodes of muscle paralysis lasting from a few to 24-48 hours and associated with a fall in blood potassium levels." "" + "hyperkalemic periodic paralysis" "Hyperkalemic periodic paralysis (HyperPP) is a muscle disorder characterized by episodic attacks of muscle weakness associated with an increase in serum potassium concentration." "" + "normokalemic periodic paralysis" "" + "periodontitis, aggressive 1" "A localized aggressive periodontitis, formerly called localized juvenile periodontitis. It is a destructive form of periodontitis characterized by ALVEOLAR BONE LOSS of the MOLARS and INCISORS. Inflammation and loss of PERIODONTIUM that is characterized by rapid attachment loss and bone destruction in the presence of little local factors such as DENTAL PLAQUE and DENTAL CALCULUS. This highly destructive form of periodontitis often occurs in young people and was called early-onset periodontitis, but this disease also appears in old people." "" + "peripheral dysostosis" "" + "pernicious anemia" "Megaloblastic anemia caused by vitamin B-12 deficiency due to impaired absorption. The impaired absorption of vitamin B-12 is secondary to atrophic gastritis and loss of gastric parietal cells." "" + "peroneal nerve, accessory deep" "" + "peroxidase, salivary" "" + "Peyronie disease" "A condition characterized by hardening of the penis due to the formation of fibrous plaques on the dorsolateral aspect of the penis, usually involving the membrane (tunica albuginea) surrounding the erectile tissue (corpus cavernosum penis). This may eventually cause a painful deformity of the shaft or constriction of the urethra, or both." "" + "phagocytosis, plasma-related defect 1N" "" + "pheochromocytoma" "" + "multiple endocrine neoplasia type 2A" "Multiple endocrine neoplasia 2A (MEN2A) syndrome is a form of MEN2 characterized by medullary thyroid carcinoma (MTC) in combination with pheochromocytoma and primary mild hyperparathyroidism resulting from hyperplasia or adenoma of the parathyroid cells." "" + "pheochromocytoma-islet cell tumor syndrome" "" + "phlebectasia of lips" "" + "phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome" "Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome is characterised by phocomelia (involving arms more severely), ectrodactyly, ear anomalies (bilateral anomalies of the pinnae), conductive deafness, dysmorphism (long and prominent philtrum, mild maxillary hypoplasia) and sinus arrhythmia. It has been described in four patients (a father and his son and a mother and her daughter) from two unrelated families." "" + "phosphatase, acid, of tissues" "" + "phosphoglucomutase 4" "" + "6-phosphogluconolactonase deficiency" "" + "phosphoglycoprotein 1" "" + "photomyoclonus, diabetes mellitus, deafness, nephropathy, and cerebral dysfunction" "" + "Pick disease" "A rare neurodegenerative disorder leading to dementia. It is characterized by frontotemporal lobar degeneration with accumulation of tau proteins which form Pick bodies." "" + "cerebral degeneration" "A neurodegenerative disease that involves the telencephalon." "" + "piebaldism" "Piebaldism is a rare congenital pigmentation skin disorder characterized by the presence of hypopigmented and depigmented skin areas (leukoderma) on various parts of the body, preferentially on the forehead, chest, abdomen, upper arms, and lower extremities, that are associated with a white forelock (poliosis), and in some cases with hypopigmented and depigmented eyebrows and eyelashes." "" + "obsolete eyebrow/eyelashes pigmentation anomaly" "" "true" + "albinism" "A congenital disorder characterized by partial or complete absence of melanin pigment in the eyes, hair, or skin." "" + "piebald trait-neurologic defects syndrome" "Piebald trait-neurologic defects syndrome is a rare, genetic, pigmentation anomaly of the skin syndrome characterized by ventral as well as dorsal leukoderma of the trunk and a congenital white forelock, in association with cerebellar ataxia, impaired motor coordination, intellectual disability of variable severity and progressive, mild to profound, uni- or bilateral sensorineural hearing loss. There have been no further descriptions in the literature since 1971." "" + "pigmented paravenous retinochoroidal atrophy" "Pigmented paravenous retinochoroidal atrophy (PPRCA) is a rare, commonly bilateral and symmetric retinal disease characterized by non-progressive or slowly progressive chorioretinal atrophy, peripapillary pigmentary changes and accumulation of ''bone-corpuscle'' pigmentation along the retinal veins and which is usually asymptomatic or can present with mild blurred vision." "" + "robin sequence-oligodactyly syndrome" "Robin sequence-oligodactyly syndrome is a rare, genetic, developmental defect during embryogenesis syndrome characterized by Robin sequence (i.e. severe micrognathia, retroglossia and U-shaped cleft of the posterior palate) associated with pre- and postaxial oligodactyly. Facial features can include a narrow face and narrow lower dental arch. Clinodactyly, absent phalanx, metacarpal fusions, and hypoplastic carpals have also been reported. There have been no further descriptions in the literature since 1986." "" + "pigmented purpuric eruption" "" + "pilonidal sinus" "A hair-containing cyst or sinus, occurring chiefly in the coccygeal region." "" + "isolated growth hormone deficiency type II" "" + "familial pityriasis rubra pilaris" "A rare chronic papulosquamous disorder of unknown etiology characterized by small follicular papules, scaly red-orange patches, and palmoplantar hyperkeratosis, which may progress to plaques or erythroderma. Although most of the cases are sporadic and acquired, a familial form of the disease exists." "" + "pityriasis rubra pilaris" "A group of skin conditions that cause constant inflammation and scaling of the skin. People with PRP have reddish, scaly patches that may occur everywhere on the body, or only on certain areas. Some people with PRP also develop thickened skin on the underside of the hands and feet (palmoplantar keratoderma), various nail abnormalities, and/or thinning of the hair. There are several types of PRP classified by age when symptoms begin, body areas involved, and whether other conditions are present. This condition occurs in adults (adult onset PRP) as well as children (juvenile onset PRP)." "" + "platelet adenylate cyclase activity" "" + "platelet aggregation, spontaneous" "" + "platelet disorder, undefined" "" + "platelet factor 3 deficiency" "" + "platelet membrane fluidity" "" + "platelet responsiveness to adrenaline, depressed" "" + "platelet signal processing defect" "" + "familial spontaneous pneumothorax" "Familial spontaneous pneumothorax is a rare, genetic pulmonary disease characterized by the uni- or bilateral accumulation of air in the pleural cavity in persons with a positive family history and no underlying lung disease or previous chest trauma. Patients typically present dyspnea associated with acute onset of sharp and steady pleutiric chest pain of variable severity (which resolves within 24h even though pneumothorax is still present). Reflex tachycardia and/or respiratory or circulatory compromise may be observed. Other syndromes (e.g. Birt-Hogg-Dube, Marfan or Ehlers-Danlos syndromes) may be associated." "" + "Kindler syndrome" "Kindler syndrome (KS) is the fourth major type of epidermolysis bullosa (EB), besides simplex, junctional and dystrophic forms, and is characterized by skin fragility and blistering at birth followed by development of photosensitivity and progressive poikilodermatous skin changes." "" + "hereditary sclerosing poikiloderma, Weary type" "" + "hereditary poikiloderma" "" + "Poland syndrome" "Poland syndrome is marked by a unilateral absence or hypoplasia of the pectoralis major muscle (most frequently involving the sternocostal portion), and a variable degree of ipsilateral hand anomalies, including symbrachydactyly." "" + "syndromic breast hypoplasia/aplasia" "" + "polycystic kidney disease 1" "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." "" + "polycystic liver disease 1" "A polycystic liver disease in which the cause of the disease is a mutation in the PRKCSH gene, and is characterized by the appearance of numerous cysts spread throughout the liver." "" + "polydactyly, postaxial, type A1" "" + "postaxial polydactyly type A" "" + "orofaciodigital syndrome V" "Oral-facial-digital syndrome, type 5 is characterized by median cleft of the upper lip, postaxial polydactyly of hands and feet, and oral manifestations (duplicated frenulum)." "" + "polydactyly-myopia syndrome" "Polydactyly-myopia syndrome is an exceedingly rare autosomal dominant developmental anomaly reported in 1986 in nine individuals among four generations of the same family. The syndrome is characterized clinically by four-limb postaxial polydactyly and progressive myopia. There have been no further descriptions in the literature since 1986." "" + "polydactyly of a biphalangeal thumb" "Polydactyly of a biphalangeal thumb or PPD1 is the most common form of preaxial polydactyly of fingers, a limb malformation syndrome, that is characterized by the duplication of one or more skeletal components of a biphalangeal thumb. Hands are preferentially affected (in bilateral), and the right hand is more commonly involved than the left." "" + "preaxial polydactyly of fingers" "Preaxial polydactyly of fingers is a limb malformation syndrome characterized by the attachment of a superfluous digit on the first digit. Four types have been defined: Type I (PPD1 or biphalangeal thumb polydactyly) which shows duplication of one or more skeletal components of a biphalangeal thumb; type II (PPD2 or polydactyly of a triphalangeal thumb) which involves the presence of a usually opposable triphalangeal thumb with or without additional duplication of thumb; type III (PPD3 or polydactyly of an index finger) where the thumb is replaced by one or two triphalangeal digits with dermatoglyphic pattern specific for the index finger; and type IV (PPD4 or polysyndactyly) which shows variably mild degrees of thumb duplication and variable syndactyly between 3rd and 4th fingers. Among the four types, PPD1 is the most frequent form. Preaxial polydactyly of fingers is caused by disruptions to the developmental patterning of the limb along the anterior-posterior axis that lead to changes in digit number and identity." "" + "polydactyly of a triphalangeal thumb" "Polydactyly of a triphalangeal thumb or PPD2 is a form of preaxial polydactyly of fingers, a limb malformation syndrome, that is characterized by the presence of a usually opposable triphalangeal thumb with or without additional duplication of one or more skeletal components of the thumb. The thumb appearance can differ widely in shape (wedge to rectangular) or it can be deviated in the radio-ulnar plane (clinodactyly). PPD2 is also associated with systemic syndromes, including Holt-Oram syndrome and Fanconi anemia." "" + "polydactyly of an index finger" "Polydactyly of an index finger or PPD3 is a form of preaxial polydactyly of fingers, a limb malformation syndrome, where the thumb is replaced by one or two triphalangeal digits with dermatoglyphic pattern specific of the index finger. Two forms of PPD3 have been characterized: unilateral and bilateral. There have been no further descriptions in the literature since 1962." "" + "polysyndactyly 4" "Polysyndactyly or PPD4 is a form of preaxial polydactyly of fingers, a limb malformation syndrome, characterized by the presence of a thumb showing the mildest degree of duplication, being broad, bifid or with radially deviated distal phalanx. Syndactyly of various degrees of third-and-fourth fingers is occasionally present." "" + "actinic prurigo" "" + "polyostotic fibrous dysplasia" "Fibrous dysplasia affecting more than one bone. When it is associated with café-au-lait skin pigmentation and endocrine disorders, it is known as McCune-Albright syndrome." "" + "familial expansile osteolysis" "" + "generalized juvenile polyposis/juvenile polyposis coli" "" + "juvenile polyposis syndrome" "Juvenile gastrointestinal polyposis (JIP) is a rare condition characterized by the presence of juvenile hamartomatous polyps in the gastrointestinal (GI) tract." "" + "juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome" "" + "obsolete familial adenomatous polyposis type 1" "" "true" + "pigmented conjunctival lesion" "" + "polyposis, intestinal, scattered and discrete" "" + "polyposis, intestinal, with multiple exostoses" "" + "Cronkhite-Canada syndrome" "Cronkhite-Canada syndrome (CCS) is a rare gastrointestinal (GI) polyposis syndrome characterized by the association of non-hereditary GI polyposis with the cutaneous triad of alopecia, nail changes and hyperpigmentation." "" + "polyposis of gastric fundus without polyposis coli" "" + "polyps, multiple and recurrent inflammatory fibroid, gastrointestinal" "" + "crossed polysyndactyly" "Crossed polysyndactyly is a rare, genetic, congenital limb malformation disorder characterized by unilateral or bilateral postaxial polydactyly in the hands and preaxial polydactyly in the feet, associated with bilateral cutaneous syndactyly of first, second and third toes. Cutaneous syndactyly in hands has also been reported in some patients. There have been no further descriptions in the literature since 1994." "" + "Greig cephalopolysyndactyly syndrome" "Greig cephalopolysyndactyly syndrome (GCPS) is a pleiotropic, multiple congenital anomaly syndrome." "" + "popliteal cyst" "A synovial cyst located in the back of the knee, in the popliteal space arising from the semimembranous bursa or the knee joint." "" + "brain small vessel disease 1 with or without ocular anomalies" "Any porencephaly in which the cause of the disease is a mutation in the COL4A1 gene." "" + "familial porencephaly" "An instance of porencephaly that is caused by an inherited modification of the individual's genome." "" + "COL4A1 or COL4A2-related cerebral small vessel disease with hemorrhagic tendancy" "True" + "porokeratosis 1, Mibelli type" "" + "porokeratosis of Mibelli" "Porokeratosis of Mibelli (PM) is a form of porokeratosis that is characterized by the presence of brown single or multiple annular plaques of varying size, that are sometimes confluent, with a distinctive sharply-defined keratotic border." "" + "porokeratosis plantaris palmaris et disseminata" "Porokeratosis plantaris palmaris et disseminata (PPPD) is a rare form of porokeratosis occurring mainly in adolescence and characterized by small pruritic or painful keratotic papules that first appear on the palms and soles, and may gradually become generalized." "" + "isolated punctate palmoplantar keratoderma" "A punctate palmoplantar keratoderma that is not part of a larger syndrome." "" + "punctate palmoplantar keratoderma type 2" "Punctate palmoplantar keratoderma type 2 is a type of isolated, punctate, hereditary palmoplantar keratoderma characterized by multiple, asymptomatic, 1 to 2 mm-long, firm, hyperkeratotic projections (\"spiny keratosis\") on the palms, soles and digits (typically confined to their volar and/or lateral aspects). Histopathologically, compact columnar parakeratosis over hypo- or agranular epidermis is observed." "" + "porokeratosis 3, disseminated superficial actinic type" "" + "disseminated superficial actinic porokeratosis" "Disseminated superficial actinic porokeratosis (DSAP) is the most common form of porokeratosis characterized by the presence of several small annular plaques with a distinctive keratotic rim found most commonly on sun-exposed areas of the skin, particularly the extremities." "" + "acute intermittent porphyria" "Acute intermittent porphyria is the most frequent and the most severe form of the acute hepatic porphyrias. It is characterized by the occurrence of neuro-visceral attacks without cutaneous manifestations." "" + "sporadic porphyria cutanea tarda" "An instance of porphyria cutanea tarda that is acquired during the lifetime of the individual." "" + "porphyria cutanea tarda" "Porphyria cutanea tarda (PCT) is the most common form of chronic hepatic porphyria. It is characterized by bullous photodermatitis." "" + "familial porphyria cutanea tarda" "An instance of porphyria cutanea tarda that is caused by an inherited modification of the individual's genome." "" + "variegate porphyria" "Variegate porphyria is a form of acute hepatic porphyria characterized by the occurrence of neuro-visceral attacks with or without the presence of cutaneous lesions." "" + "postaxial tetramelic oligodactyly" "Postaxial tetramelic oligodactyly is a rare, genetic, congenital limb malformation disorder characterized by isolated, postaxial oligodactyly in all four extremities. Patients present a consistent pattern of malformation ranging from complete absence of the 5th metacarpals, metatarsals and phalanges to complete absence of the 5th metacarpals and metatarsals, with some residual distal 5th phalanges. There have been no further descriptions in the literature since 1993." "" + "posterior column ataxia" "" + "Prader-Willi syndrome" "Prader-Willi syndrome is a rare genetic disorder characterized by hypothalamic-pituitary abnormalities with severe hypotonia during the neonatal period and first two years of life and the onset of hyperphagia with a risk of morbid obesity during infancy and adulthood, learning difficulties and behavioral problems or severe psychiatric problems." "" + "female infertility due to a congenital hypogonadotropic hypogonadism" "True" + "Guttmacher syndrome" "Guttmacher syndrome is an extremely rare syndrome characterized by hypoplastic thumbs and halluces, 5th finger clinobrachydactyly, postaxial polydactyly of the hands, short or uniphalangeal 2nd toes with absent nails and hypospadias." "" + "centra precocious puberty 1" "Any central precocious puberty in which the cause of the disease is a mutation in the KISS1R gene." "" + "central precocious puberty" "Central precocious puberty (CPP), also referred to as gonadotropin dependent precocious puberty, is an endocrine-related developmental disease characterized by the onset of pubertal changes, with development of secondary sexual characteristics and accelerated growth and bone maturation, before the normal age of puberty (8 years in girls and 9 years in boys)." "" + "familial male-limited precocious puberty" "Familial male limited precocious puberty (FMPP) is a gonadotropin-independent familial form of male-limited precocious puberty, generally presenting between 2-5 years of age as accelerated growth, early development of secondary sexual characteristics and reduced adult height." "" + "premature chromatid separation trait" "" + "Currarino triad" "Currarino syndrome (CS) is a rare congenital disease characterized by the triad of anorectal malformations (ARMs) (usually anal stenosis), presacral mass (commonly anterior sacral meningocele (ASM) or teratoma) and sacral anomalies (i.e. total or partial agenesis of the sacrum and coccyx or deformity of the sacral vertebrae)." "" + "ABri amyloidosis" "A cerebral amyloid angiopathy characterized by onset in the 4th to 6th decade of life, progressive mental deterioration, spasticity, muscular rigidity but no tremors, spontaneous movements or sensory changes that has material basis in an autosomal dominant mutation of ITM2B on chromosome 13q14.2." "" + "presenile dementia, Kraepelin type" "" + "priapism, familial idiopathic" "" + "primary release disorder of platelets" "" + "Hutchinson-Gilford progeria syndrome" "Hutchinson-Gilford progeria syndrome is a rare, fatal, autosomal dominant and premature aging disease, beginning in childhood and characterized by growth reduction, failure to thrive, a typical facial appearance (prominent forehead, protuberant eyes, thin nose with a beaked tip, thin lips, micrognathia and protruding ears) and distinct dermatologic features (generalized alopecia, aged-looking skin, sclerotic and dimpled skin over the abdomen and extremities, prominent cutaneous vasculature, dyspigmentation, nail hypoplasia and loss of subcutaneous fat)." "" + "progeria" "" + "progeria-short stature-pigmented nevi syndrome" "Progeria-short stature-pigmented nevi is a progeroid disorder characterised by low birthweight, short stature, multiple pigmented nevi and lack of facial subcutaneous fat." "" + "autosomal dominant prognathism" "Malocclusion in which the mandible is anterior to the maxilla as reflected by the first relationship of the first permanent molar (mesioclusion)." "" + "pelvic organ prolapse, susceptibility to" "" + "pronation-supination of the forearm, impairment of" "" + "obsolete genetic urogenital tumor" "" "true" + "thrombophilia due to protein C deficiency, autosomal dominant" "" + "hereditary thrombophilia due to congenital protein C deficiency" "Congenital protein C deficiency is an inherited coagulation disorder characterized by deep venous thrombosis symptoms due to reduced synthesis and/or activity levels of protein C." "" + "proteolytic capacity of plasma" "" + "Proteus syndrome" "Proteus syndrome (PS) is a very rare and complex hamartomatous overgrowth disorder characterized by progressive overgrowth of the skeleton, skin, adipose, and central nervous systems." "" + "neurocutaneous syndrome with epilepsy" "True" + "protoporphyria, erythropoietic, 1" "Erythropoietic protoporphyria caused by a compound heterozygous or homozygous mutation in the gene encoding ferrochelatase (FECH) on chromosome 18q21." "" + "autosomal erythropoietic protoporphyria" "Erythropoietic protoporphyria (EPP) is an inherited disorder of the heme metabolic pathway characterized by accumulation of protoporphyrin in blood, erythrocytes and tissues, and cutaneous manifestations of photosensitivity." "" + "Protrusio acetabuli" "" + "pruritus, hereditary localized" "" + "pseudoachondroplasia" "Pseudoachondroplasia is characterized by severe growth deficiency and deformations such as bow legs and hyperlordosis." "" + "Liddle syndrome" "Liddle syndrome is a rare inherited form of hypertension characterized by severe early-onset hypertension associated with decreased plasmatic levels of potassium, renin and aldosterone." "" + "pseudoarthrogryposis" "" + "Pseudoatrophoderma colli" "" + "pseudocholinesterase, increase in plasma level of" "" + "exfoliation syndrome" "An autosomal dominant disorder caused by mutations in the LOXL1 gene, encoding lysyl oxidase homolog 1. The condition is characterized by abnormal fibrillar extracellular material in anterior segment tissues, and may lead to glaucoma." "" + "glaucoma 1, open angle, P" "" + "autosomal dominant pseudohypoaldosteronism type 1" "Renal pseudohypoaldosteronism type 1 (renal PHA1) is a mild form of primary mineralocorticoid resistance restricted to the kidney." "" + "pseudohypoaldosteronism type 1" "Pseudohypoaldosteronism type 1 (PHA1) is a primary form of mineralocorticoid resistance presenting in the newborn with renal salt wasting, failure to thrive and dehydration." "" + "pseudomonilethrix" "" + "obsolete pseudopapilledema" "Apparent optic disc swelling in the absence of increased intracranial pressure." "" "true" + "pseudo-von Willebrand disease" "Platelet type Von Willebrand disease (PT-VWD) is a bleeding disorder characterized by mild to moderate mucocutaneous bleeding, which becomes more pronounced during pregnancy or following ingestion of drugs that have anti-platelet activity. PT-VWD is due to hyperresponsive platelets, resulting in thrombocytopenia." "" + "hereditary von Willebrand disease" "Hereditary von Willebrand disease (VWD) is a hereditary bleeding disorder caused by a genetic anomaly leading to quantitative, structural or functional abnormalities of the Willebrand factor (von Willebrand factor; VWF). Two major groups of VWF deficiency have been defined: quantitative and partial (type 1) or total (type 3), and qualitative (type 2) with several subtypes (2A, 2B, 2M, 2N)." "" + "pseudoxanthoma elasticum, forme fruste" "An autosomal dominant form of PXE." "" + "inherited pseudoxanthoma elasticum" "An inheritable form of pseudoxanthoma elasticum (PXE), that causes calcium and other minerals to accumulate in the elastic fibers of the skin, eyes, and blood vessels, and less frequently in other areas such as the digestive tract. PXE may cause the following symptoms: growth of yellowish bumps on the skin of the neck, under the arms, or in the groin area; reduced vision; periodic weakness in the legs (claudication); or bleeding in the gastrointestinal tract, particularly the stomach. A clinical diagnosis of PXE can be made when an individual is found to have both the characteristic eye findings and yellow bumps on the skin. ABCC6 is the only gene known to be associated with this condition. Currently, there is no treatment for this condition, but affected individuals may benefit from routine visits to an eye doctor who specializes in retinal disorders, and by having regular physical examinationswith their primary physician." "" + "autosomal recessive inherited pseudoxanthoma elasticum" "An autosomal recessive form of PXE." "" + "psoriasis 1, susceptibility to" "Any psoriasis in which the cause of the disease is a mutation in the HLA-C gene." "" + "short stature-craniofacial anomalies-genital hypoplasia syndrome" "Short stature-craniofacial anomalies-genital hypoplasia syndrome is characterized by the association of short stature, craniofacial anomalies and genital hypoplasia. Intellectual deficit is also found in the majority of cases, sometimes together with pterygia. Less than 20 cases have been described so far. The mode of transmission is likely to be autosomal dominant with incomplete penetrance. The syndrome is caused by unbalanced reciprocal translocations of the distal parts of chromosomes 6q and 9p, leading to partial trisomy of the distal region of chromosome 6q and partial monosomy of the distal region of chromosome 9p." "" + "pterygium colli, isolated" "" + "familial pterygium of the conjunctiva" "Familial pterygium of the conjunctiva is a rare form of pterygium, which develops in early adulthood, characterized by a wing-like bulbar thickening of the conjunctiva in the interpalpebral fissure area that can be cured by surgical excision." "" + "contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A" "" + "multiple pterygium syndrome" "" + "contractures, pterygia, and variable skeletal fusions syndrome" "" + "antecubital pterygium syndrome" "" + "congenital ptosis" "Congenital ptosis is characterized by superior eyelid drop present at birth." "" + "ptosis-strabismus-ectopic pupils syndrome" "Ptosis-strabismus-ectopic pupils syndrome is characterised by the association of ptosis, strabismus and ectopic pupils. It has been described in one family (in a mother and three of her children). Transmission is autosomal dominant." "" + "pubic bone dysplasia" "" + "pulmonary atresia with ventricular septal defect" "Pulmonary atresia with ventricular septal defect (PA-VSD) is a rare cyanotic congenital heart malformation characterized by underdevelopment of the right ventricular outflow tract and atresia of the pulmonary valve, ventricular septal defect (VSD) and pulmonary collateral vessels. Clinical features depend on the anatomic variability of the lesion and patients may be minimally symptomatic, severely cyanotic or may develop congestive heart failure. PA-VSD may represent a severe form of Tetralogy of Fallot." "" + "conotruncal heart malformations" "Conotruncal heart malformations are a group of congenital cardiac outflow tract anomalies that include such defects as tetralogy of Fallot, pulmonary atresia with ventricular septal defect, double-outlet right ventricle (DORV), double-outlet left ventricle, truncus arteriosus and transposition of the great arteries (TGA), among others. This group of defects is frequently found in patients with 22q11.2 deletion syndrome. A deletion of chromosome 22q11.2 has equally been associated in a subset of patients with various types of isolated non-syndromic conotruncal heart malformations (with the exception of DORV and TGA where this is very uncommon)." "" + "pulmonary edema of mountaineers, susceptibility to" "" + "idiopathic pulmonary fibrosis" "Idiopathic pulmonary fibrosis (IPF) is a nonneoplastic pulmonary disease that is characterized by the formation of scar tissue within the lungs in the absence of any known cause." "" + "pulmonary hemosiderosis" "Idiopathic pulmonary hemosiderosis is a respiratory disease due to repeated episodes of diffuse alveolar hemorrhage without any underlying apparent cause, most often in children. Anemia, cough, and pulmonary infiltrates on chest radiographs are found in majority of the patients." "" + "primary interstitial lung disease in childhood and adulthood" "" + "idiopathic and/or familial pulmonary arterial hypertension" "Idiopathic and/or familial pulmonary arterial hypertension (IFPAH) is a form or pulmonary arterial hypertension (PAH, see his term) characterized by elevated pulmonary arterial resistance leading to right heart failure; it is progressive and potentially fatal. About 75% of heritable pulmonary arterial hypertension (HPAH) have an identified mutation. HPAH has been linked to mutations in BMPR2 in 75% of cases; other genes implicated in HPAH include ACVR1, BMPR1, CAV1, ENG and SMAD9 and CBLN2. (However, the majority of patients carrying an HPAH mutation do not develop PAH). Idiopathic pulmonary arterial hypertension (IFPAH) refers to those cases of pulmonary arterial hypertension in which etiology remains unknown." "" + "pulmonary arterial hypertension" "Pulmonary arterial hypertension (PAH) is a group of diseases characterized by elevated pulmonary arterial resistance leading to right heart failure. PAH is progressive and potentially fatal. PAH may be idiopathic and/ or familial, or induced by drug or toxin (drug-or toxin-induced PAH) or associated with other diseases like congenital heart disease, connective tissue disease, HIV, schistosomiasis, portal hypertension (PAH associated with other disease)." "" + "obsolete rare genetic respiratory disease" "Rare genetic respiratory system disease." "True" "true" + "pulmonary nodular lymphoid hyperplasia" "Pulmonary nodular lymphoid hyperplasia (PNHL) is a reactive lymphoid proliferation manifesting as solitary or multiple nodules in the lung." "" + "pulmonic stenosis, atrial septal defect, and unique electrocardiographic abnormalities" "" + "pulmonic stenosis and deafness" "" + "pupil, egg-shaped" "" + "pupillary membrane, persistence of" "" + "pruritic urticarial papules and plaques of pregnancy" "" + "purpura simplex" "" + "pyloric stenosis, infantile hypertrophic, 1" "" + "inherited hypertrophic pyloric stenosis" "An instance of hypertrophic pyloric stenosis that is inherited." "" + "radial heads, posterior dislocation of" "" + "radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome" "Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome is characterised by symmetric, nonopposable triphalangeal thumbs and radial hypoplasia. It has been described in eight patients (five females and three males) spanning generations of a family. The affected males also presented with hypospadias. The syndrome is inherited as an autosomal dominant trait." "" + "radial ray hypoplasia-choanal atresia syndrome" "Radial ray hypoplasia - choanal atresia is an extremely rare syndrome characterized by radial ray hypoplasia, choanal atresia and convergent strabismus." "" + "radio-renal syndrome" "Radio-renal syndrome is a rare developmental defect during embryogenesis characterized by variable upper limb reduction defects and renal anomalies. Patients typically present absence/hypoplasia of digits, radii and/or ulnae, short stature and mild external ear malformation, as well as kidney agenesis or ectopia. There have been no further descriptions in the literature since 1983." "" + "obsolete radioulnar synostosis" "" "true" + "radius, aplasia of, with cleft lip/palate" "" + "ragweed sensitivity" "" + "raindrop hypopigmentation" "" + "Raynaud disease" "An episodic vasoconstriction resulting in discoloration of the skin and pain in the affected areas, often involving fingers or toes. Classically associated with triphasic color changes (white, blue, red) but may be biphasic. Often occurs in response to cold temperatures or emotional stress. May be primary or secondary to an underlying autoimmune disease." "" + "recombinant 8 syndrome" "Recombinant 8 (rec(8)) syndrome, also known as San Luis Valley syndrome, is a complex chromosomal disorder that is due to a parental pericentric inversion of chromosome 8 and is characterized by major congenital heart anomalies, urogenital malformations, moderate to severe intellectual deficiency and mild craniofacial dysmorphism." "" + "red cell permeability defect" "" + "red cell phospholipid defect with hemolysis" "" + "autosomal dominant distal renal tubular acidosis" "Autosomal dominant distal renal tubular acidosis (AD dRTA) is an inherited form of distal renal tubular acidosis (dRTA) characterized by hyperchloremic metabolic acidosis often but not always associated with hypokalemia." "" + "distal renal tubular acidosis" "Distal renal tubular acidosis (dRTA) is a disorder of impaired net acid secretion by the distal tubule characterized by hyperchloremic metabolic acidosis. The classic form is often associated with hypokalemia whereas other forms of acquired dRTA may be associated with hypokalemia, hyperkalemia or normokalemia." "" + "proximal renal tubular acidosis" "Proximal renal tubular acidosis (pRTA) is a tubular kidney disease characterized by impaired ability of the proximal tubule to reabsorb bicarbonate from the glomerular filtrate leading to hyperchloremic metabolic acidosis." "" + "primary renal tubular acidosis" "" + "reticular dystrophy of retinal pigment epithelium" "" + "reticular dystrophy of the retinal pigment epithelium" "Reticular dystrophy of the retinal pigment epithelium is a patterned dystrophy of the retinal pigment epithelium, of progressive course, characterized by the presence of a bilateral hyperpigmented reticular pattern resembling a fishnet with knots, resulting in a slowly progressive loss of vision that often only becomes apparent in old age. Reticular dystrophy of the retinal pigment epithelium is sometimes associated with scleral staphyloma, choroidal neovascularization, convergent strabismus, spherophakia with myopia and luxated lenses, and partial atrophy of the iris." "" + "Dowling-Degos disease" "A pigmentation disease characterized by a reticulate pattern of abnormally dark skin coloring, particularly in the body's folds and creases." "" + "disorder of fucoglycosan synthesis" "" + "retinal aplasia" "" + "Leber congenital amaurosis" "Leber congenital amaurosis (LCA) is a retinal dystrophy defined by blindness and responses to electrophysiological stimulation (Ganzfeld electroretinogram (ERG)) below threshold, associated with severe visual impairment within the first year of life." "" + "retinal arterial tortuosity" "" + "retinal cone dystrophy type 1" "" + "retinal venous beading" "" + "retinitis pigmentosa 1" "Any retinitis pigmentosa in which the cause of the disease is a mutation in the RP1 gene." "" + "retinitis pigmentosa 9" "Any retinitis pigmentosa in which the cause of the disease is a mutation in the RP9 gene." "" + "retinitis pigmentosa 10" "Any retinitis pigmentosa in which the cause of the disease is a mutation in the IMPDH1 gene." "" + "obsolete hereditary eye tumor" "" "true" + "inherited vitreous-retinal disease" "" + "dominant pericentral pigmentary retinopathy" "A retinitis pigmentosa that is characterized pigmentary retinal degeneration with onset in the teens leading to blindness in the sixth ans seventh decades of life." "" + "retinoschisis, autosomal dominant" "Autosomal dominant form of retinoschisis." "" + "rheumatoid nodulosis" "A particular variant of polyarthritis associated with early manifestations of palindromic rheumatism, radiologic subchondral bone cysts, and subcutaneous rheumatoid nodules." "" + "polyarticular arthritis" "An arthritis affecting five or more separate joints." "" + "rhiny" "" + "Axenfeld-Rieger syndrome type 1" "A rare autosomal dominant syndrome linked to mutations in the PITX2 gene. It is characterized by abnormalities in the anterior chamber of the eye and underdevelopment of the teeth." "" + "Axenfeld-Rieger syndrome" "Axenfeld-Rieger syndrome (ARS) is a generic term used to designate overlapping genetic disorders, in which the major physical condition is anterior segment dysgenesis of the eye. Patients with ARS may also present with multiple variable congenital anomalies." "" + "ring dermoid of cornea" "Ring dermoid of cornea is characterised by annular limbal dermoids (growths with a skin-like structure) with corneal and conjunctival extension. Less than 30 cases have been described. Transmission is autosomal dominant and mutations in the PITX2 gene have been suggested as a potential cause of the condition." "" + "ringed hair disease" "Pili annulati is an isolated, benign hair shaft abnormality, usually presenting after the age of 2 and affecting the hair of the scalp or very rarely beard, axillary, or pubic hair, that is characterized by a banded or speckled appearance due to alternating light bands (corresponding to air-filled cavities within the cortex of the affected hair shafts) and dark bands. The bands have a lifelong duration, may only be detectable under light microscopy, are more apparent in fair-colored hair or with age-related graying, and have no effect on hair growth or fragility in the vast majority of cases." "" + "autosomal dominant Robinow syndrome" "Autosomal dominant Robinow syndrome (DRS) is the more common type of Robinow syndrome (RS) characterized by mild to moderate limb shortening and abnormalities of the head, face and external genitalia." "" + "Robinow syndrome" "Robinow syndrome (RS) is a rare genetic syndrome characterized by limb shortening and abnormalities of the head, face and external genitalia." "" + "Rombo syndrome" "Rombo syndrome is characterized by vermiculate atrophoderma, milia, hypotrichosis, trichoepitheliomas, peripheral vasodilation with cyanosis and basal cell carcinomas." "" + "Robinow-Sorauf syndrome" "" + "Roussy-Levy syndrome" "" + "Rubinstein-Taybi syndrome due to CREBBP mutations" "Any Rubinstein-Taybi syndrome in which the cause of the disease is a mutation in the CREBBP gene." "" + "Rubinstein-Taybi syndrome" "A rare malformation syndrome characterized by congenital anomalies (microcephaly, specific facial characteristics, broad thumbs and halluces and postnatal growth retardation), short stature, intellectual disability and behavioural characteristics." "" + "Silver-Russell syndrome" "Silver-Russell syndrome is characterized by growth retardation with antenatal onset, characteristic facies and limb asymmetry." "" + "Ruvalcaba syndrome" "Ruvalcaba syndrome is an extremely rare malformation syndrome, described in less than 10 patients to date, characterized by microcephaly with characteristic facies (downslanting parpebral fissures, microstomia, beaked nose, narrow maxilla), very short stature, narrow thoracic cage with pectus carinatum, hypoplastic genitalia and skeletal anomalies (i.e. characteristic brachydactyly and osteochondritis of the spine) as well as intellectual and developmental delay." "" + "X-linked syndromic intellectual disability" "A syndromic intellectual disability with an X-linked mode of inheritance." "" + "oculodental syndrome, Rutherfurd type" "Oculodental syndrome, Rutherfurd type is a rare genetic disorder that is primarily characterized by the classical triad of gingival fibromatosis, non-eruption of tooth and corneal dystrophy (bilateral corneal vascularization and opacity). Abnormally shaped teeth have also been reported. The syndrome is transmitted as an autosomal dominant trait." "" + "aplasia of lacrimal and salivary glands" "Aplasia of the lacrimal and salivary glands (ALSG) is a rare autosomal dominant disorder characterized by aplasia, atresia or hypoplasia of the lacrimal and salivary glands leading to varying features since infancy such as recurrent eye infections, irritable eyes, epiphora, xerostomia, dental caries, dental erosion and oral inflammation." "" + "salivary substance, Clostridium botulinum type" "" + "sarcoidosis, susceptibility to, 1" "Any sarcoidosis in which the cause of the disease is a mutation in the HLA-DRB1 gene." "" + "salivary duct calculi" "Presence of small calculi in the terminal salivary ducts (salivary sand), or stones (larger calculi) found in the larger ducts." "" + "pleomorphic adenoma" "A neoplasm characterized by the presence of benign epithelial and myoepithelial cells and a mesenchymal component that may contain mucoid, myxoid, cartilaginous, or osseous areas. It may be completely or partially encapsulated. It occurs in the parotid gland, submandibular gland, minor salivary glands in the oral cavity, upper respiratory tract, and nasal cavity and paranasal sinuses. It usually presents as a slow growing painless mass. Infrequently, patients may present with pain and facial palsy. It may recur after excision or transform to a malignant neoplasm (carcinoma ex pleomorphic adenoma)." "" + "benign epithelial tumor of salivary glands" "" + "cleft palate-large ears-small head syndrome" "Cleft palate-large ears-small head syndrome is a rare, genetic syndrome characterized by cleft palate, large protruding ears, microcephaly and short stature (prenatal onset). Other skeletal abnormalities (delayed bone age, distally tapering fingers, hypoplastic distal phalanges, proximally placed thumbs, fifth finger clinodactyly), Pierre Robin sequence, cystic renal dysplasia, proximal renal tubular acidosis, hypospadia, cerebral anomalies on imaging (enlargement of lateral ventricles, mild cortical atrophy), seizures, hypotonia and developmental delay are also observed." "" + "scalp defects-postaxial polydactyly syndrome" "Scalp defects-postaxial polydactyly syndrome is characterised by congenital scalp defects and postaxial polydactyly type A." "" + "scalp-ear-nipple syndrome" "Scalp-ear-nipple syndrome is characterised by the following triad: areas of hairless raw skin over the scalp (present at birth and healing during childhood), prominent, hypoplastic ears with almost absent pinnae, and bilateral amastia. Thirty cases have been described so far. Renal and urinary tract abnormalities, as well as cataract, have also been observed. Transmission is autosomal dominant." "" + "deficient breast volume or number" "" + "scapula, contour of vertebral border of" "" + "autosomal recessive Emery-Dreifuss muscular dystrophy" "Autosomal recessive form of Emery-Dreifuss muscular dystrophy." "" + "neurogenic scapuloperoneal syndrome, Kaeser type" "" + "qualitative or quantitative defects of desmin" "" + "scapuloperoneal spinal muscular atrophy, autosomal dominant" "" + "MYH7-related late-onset scapuloperoneal muscular dystrophy" "" + "late-onset scapuloperoneal muscular dystrophy with hyaline bodies" "True" + "Scheuermann disease" "A disorder characterized by osteochondrosis of the vertebral epiphyses in childhood." "" + "ulnar-mammary syndrome" "Ulnar-mammary syndrome (UMS) is a rare developmental disorder characterized by ulnar defects, mammary and apocrine gland hypoplasia and genital anomalies. Delayed puberty dental anomalies, short stature and obesity have also been described." "" + "intestinal schistosomiasis" "An intestinal infection that is caused by Schistosoma japonicum." "" + "obsolete schizophrenia" "" "true" + "schizophrenia 1" "A schizophrenia that has material basis in an autosomal dominant mutation of SCZD1 on chromosome 5q23-q35." "" + "obsolete Scholte syndrome" "" "true" + "palmoplantar keratoderma-sclerodactyly syndrome" "" + "sclerocornea, autosomal dominant" "" + "sclerocornea" "A corneal disease in which the cornea blends with sclera, resulting in clouding of the cornea." "" + "scleroderma, familial progressive" "" + "scoliosis, isolated, susceptibility to, 1" "" + "flat face-microstomia-ear anomaly syndrome" "Flat face-microstomia-ear anomaly syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by dysmorphic facial features, including high forehead, elongated and flattened midface, arched and sparse eyebrows, short palpebral fissures, telecanthus, long nose with hypoplastic nostrils, long philtrum, high and narrow palate and microstomia with downturned corners. Ears are characteristically malformed, large, low-set and posteriorly rotated and nasal speech is associated. There have been no further descriptions in the literature since 1994." "" + "autosomal dominant sideroblastic anemia" "Autosomal dominant form of sideroblastic anemia." "" + "sideroblastic anemia" "Sideroblastic anemias (SA) are a group of rare heterogeneous inherited or acquired bone marrow disorders, isolated or part of a syndrome, characterized by decreased hemoglobin synthesis, because of defective use of iron (although plasmatic iron levels may be normal or elevated) and the presence of ringed sideroblasts in the bone marrow due to the pathologic iron overload in mitochondria as visualized by Perls' staining. The group encompasses (idiopathic) acquired sideroblastic anemia and constitutional sideroblastic anemias. The latter include syndromic sideroblastic anemias such as Pearson syndrome, mitochondrial mypathy and sideroblastic anemias, x-linked sideroblastic anemia-ataxia, thiamine responsive megaloblastic anemia syndrome and nonsyndromic sideroblastic anemias comprising x-linked and autosomal recessive sideroblastic anemias." "" + "sinus node disease and myopia" "" + "sella turcica, bridged" "" + "omphalocele syndrome, Shprintzen-Goldberg type" "Shprintzen-Goldberg omphalocele syndrome is a very rare inherited malformation syndrome characterized by omphalocele, scoliosis, mild dysmorphic features (downslanted palpebral fissures, s-shaped eyelids and thin upper lip), laryngeal and pharyngeal hypoplasia and learning disabilities." "" + "Shprintzen-Goldberg syndrome" "Shprintzen-Goldberg syndrome (SGS) is a very rare genetic disorder characterized by craniosynostosis, craniofacial and skeletal abnormalities, marfanoid habitus, cardiac anomalies, neurological abnormalities, and intellectual disability." "" + "sister chromatid exchange, frequency of" "" + "septooptic dysplasia" "Septooptic dysplasia (SOD) is a clinically heterogeneous disorder characterized by the classical triad of optic nerve hypoplasia, pituitary hormone abnormalities and midline brain defects." "" + "syndromic optic nerve hypoplasia" "" + "developmental defect of the eye" "" + "singleton-Merten dysplasia" "Singleton-Merten dysplasia is characterized by dental dysplasia, progressive calcification of the thoracic aorta with stenosis, osteoporosis and expansion of the marrow cavities in hand bones. Additional features included generalized muscle weakness and atrophy, and chronic psoriasiform skin eruptions. It has been reported in four unrelated patients (male and female) and in a family with multiple affected members (male)." "" + "primary immunodeficiency due to a genetic defect in innate immunity" "" + "immune dysregulation disease with immunodeficiency" "True" + "type 1 interferonopathy" "" + "skeletal dysplasia with delayed epiphyseal and carpal bone ossification" "" + "slipped femoral capital epiphyses" "A developmental deformity in which the metaphysis of the femur moves proximally and anteriorly away from femur head (epiphysis) at the upper growth plate. It is most common in male adolescents and is associated with a greater risk of early osteoarthritis of the hip." "" + "ketone compounds, ability to smell" "" + "Smith-Magenis syndrome" "Smith-Magenis syndrome (SMS) is a complex genetic disorder characterized by variable intellectual deficit, sleep disturbance, craniofacial and skeletal anomalies, psychiatric disorders, and speech and motor delay." "" + "Somatomedin, embryonic" "" + "Sneddon syndrome" "Sneddon's syndrome (SS) is a rare non-inflammatory thrombotic vasculopathy characterized by the combination of cerebrovascular disease with livedo racemosa." "" + "hereditary spastic paraplegia 3A" "Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the ATL1 gene." "" + "hereditary spastic paraplegia" "Hereditary spastic paraplegias (HSP) comprise a genetically and clinically heterogeneous group of neurodegenerative disorders characterized by progressive spasticity and hyperreflexia of the lower limbs." "" + "pure or complex autosomal dominant spastic paraplegia" "" + "hereditary spastic paraplegia 4" "Autosomal dominant spastic paraplegia type 4 (SPG4) is a form of hereditary spastic paraplegia with high intrafamilial clinical variability, characterized in most cases as a pure phenotype with an adult onset (mainly the 3rd to 5th decade of life, but that can present at any age) of progressive gait impairment due to bilateral lower-limb spasticity and weakness as well as very mild proximal weakness and urinary urgency. In some cases, a complex phenotype is also reported with additional manifestations including cognitive impairment, cerebellar ataxia, epilepsy and neuropathy. A faster disease progression is noted in patients with a later age of onset." "" + "spastic paraplegia-epilepsy-intellectual disability syndrome" "" + "autosomal dominant complex spastic paraplegia" "Autosomal dominant form of complex hereditary spastic paraplegia." "" + "spastic paraplegia-nephritis-deafness syndrome" "This syndrome is characterised by variable spastic paraplegia, bilateral sensorineural deafness, intellectual deficit and progressive nephropathy." "" + "spastic paraplegia with associated extrapyramidal signs" "" + "spastic paraplegia-neuropathy-poikiloderma syndrome" "Spastic paraplegia-neuropathy-poikiloderma syndrome is a complex form of hereditary spastic paraplegia characterized by spastic paraplegia, demyelinating peripheral sensorimotor neuropathy, poikiloderma (manifesting with loss of eyebrows and eyelashes in childhood in addition to delicate, smooth, and wasted skin) and distal amyotrophy (presenting after puberty). There have been no further descriptions in the literature since 1992." "" + "spastic paraplegia-precocious puberty syndrome" "Spastic paraplegia-precocious puberty syndrome is characterized by precocious puberty (due to Leydig cell hyperplasia), progressive spastic paraplegia and intellectual deficit. It has been described in two brothers. The fact that other family members displayed brisk reflexes and dysarthria suggested autosomal dominant inheritance with variable expression." "" + "spastic paraplegia, optic atrophy, and dementia" "" + "delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome" "This syndrome is extremely rare and is characterized by delayed speech development, mild facial asymmetry, strabismus and transverse ear lobe creases." "" + "sperm protamine P4" "" + "hereditary spherocytosis type 1" "Any hereditary spherocytosis in which the cause of the disease is a mutation in the ANK1 gene." "" + "spheroid body myopathy" "Spheroid body myopathy is a rare form of myofibrillar myopathy characterized by predominantly proximal muscle weakness (that could be either non- or slowly progressive), associated with spheroid body inclusions (composed of myofilamentous material within individual muscle fibers) in skeletal muscle biopsy. Presentation is varied and may range from asymptomatic to severe muscle weakness that manifests with absent Achilles reflexes, gait abnormality and/or other motor incapacitations." "" + "myofibrillar myopathy 3" "Distal myotilinopathy is a rare, late adult-onset myofibrillar myopathy characterized by progressive distal muscle weakness associated with peripheral neuropathy and hyporeflexia. Ambulation may be lost within a few years." "" + "neural tube closure defect" "A disease that has its basis in the disruption of neural tube closure." "" + "spinal arachnoiditis" "A chronic adhesive arachnoiditis in the spinal arachnoid, with root and spinal cord symptoms similar to those caused by pressure from a tumor." "" + "arachnoiditis" "Arachnoiditis (ARC) is a chronic inflammation of the arachnoid layer of the meninges, of which adhesive arachnoiditis is the most severe form, characterized by debilitating, intractable neurogenic back and limb pain and a range of other neurological problems." "" + "neuronopathy, distal hereditary motor, type 1" "An autosomal dominant neurodegenerative disorder characterized by juvenile onset, distal motor weakness without sensory impairment, and anterior horn cell degeneration." "" + "autosomal dominant distal hereditary motor neuropathy" "Autosomal dominant form of distal hereditary motor neuropathy." "" + "spinal muscular atrophy, facioscapulohumeral type" "" + "adult-onset proximal spinal muscular atrophy, autosomal dominant" "" + "autosomal dominant proximal spinal muscular atrophy" "Autosomal dominant form of proximal spinal muscular atrophy." "" + "spinal intradural arachnoid cysts" "Spinal intradural arachnoid cysts are cerebrospinal fluid -filled sacs that are located between the spinal cord and the arachnoid membrane (one of the three membranes that cover the brain and spinal cord). The signs and symptoms of the condition vary based on the size and location of the cysts. Some affected people may have no suspicious symptoms while others experience progressive back and leg pain; tingling or numbness in the hands or feet; weakness of the legs; and involuntary muscle spasms (spasticity) that result in slow, stiff movements of the legs. When present, symptoms usually occur when the cysts compress the spinal cord or other nearby nerves. Spinal intradural arachnoid cysts are often present at birth and arecaused by developmental abnormalities in the spinal cord that occur during the pregnancy. They can also result from a previous infection or injury and develop later in life. Although there is disagreement in the medical community regarding when to treat spinal intradural arachnoid cysts, the need for treatment generally depends on the size and location of the cyst and whether or not it is causing symptoms. When indicated, the cysts are typically treated with surgery." "" + "arachnoid cyst" "Intracranial or spinal cavities containing a cerebrospinal-like fluid, the wall of which is composed of arachnoidal cells. They are most often developmental or related to trauma. Intracranial arachnoid cysts usually occur adjacent to arachnoidal cistern and may present with hydrocephalus; headache; seizures; and focal neurologic signs. (From Joynt, Clinical Neurology, 1994, Ch44, pp105-115)" "" + "spinal muscular atrophy, segmental" "" + "spinocerebellar ataxia with rigidity and peripheral neuropathy" "" + "spinocerebellar ataxia type 6" "Spinocerebellar ataxia type 6 (SCA6) is the most common subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by late-onset and slowly progressive gait ataxia and other cerebellar signs such as impaired muscle coordination and nystagmus." "" + "spinocerebellar ataxia type 2" "Spinocerebellar ataxia type 2 (SCA2) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I) characterized by truncal ataxia, dysarthria, slowed saccades and less commonly ophthalmoparesis and chorea." "" + "spinocerebellar atrophy with pupillary paralysis" "" + "splenogonadal fusion-limb defects-micrognathia syndrome" "Splenogonadal fusion-limb defects-micrognatia syndrome is a rare dysostosis syndrome characterized by abnormal fusion of the spleen with the gonad (or more rarely with remnants of the mesonephros), limb abnormalities (consisting of amelia or severe reduction defects leading to upper and/or lower rudimentary limbs) and orofacial abnormalities such as cleft palate, bifid uvula, microglossia and mandibular hypoplasia. It could also be associated with other malformations such as cryptorchidism, anal stenosis/atresia, hypoplastic lungs and cardiac malformations." "" + "splenomegaly syndrome with splenic Germinal center hypoplasia and reduced circulating T helper cells" "" + "split lower lip" "" + "split-hand and split-foot with hypodontia" "" + "split hand-foot malformation 1" "Split-hand/foot malformation mapped to chromosome 7q21.3" "" + "split hand-foot malformation" "Split hand-split foot malformation (SHFM) refers to a spectrum of genetically and clinically heterogenous terminal limb defect characterized by hypoplasia/ absence of central rays of the hands and feet (that can occur in one to all four digits), median clefts of the hands and/ or feet, aplasia and syndactyly, with a wide range of severity ranging from malformed central finger/ toe to a lobster claw-like appearance of the hands and feet. SHFM can be an isolated malformation or can be a feature in various syndromes (ADULT syndrome, EEC syndrome). SHFM usually follows an autosomal dominant pattern of inheritance with incomplete penetrance, but autosomal recessive and rarely X-linked inheritance have also been reported." "" + "Patterson-Stevenson-Fontaine syndrome" "Patterson-Stevenson-Fontaine syndrome is a very rare variant of acrofacial dysostosis characterized by mandibulofacial dysostosis and limb anomalies." "" + "Karsch-Neugebauer syndrome" "Karsch-Neugebauer syndrome is a rare syndrome characterized by split-hand and split-foot deformity and ocular abnormalities, mainly a congenital nystagmus." "" + "Czeizel-Losonci syndrome" "Czeizel-Losonci syndrome (CLS) is an exceedingly rare, severe, congenital genetic malformation disorder characterized by split hand/split foot, hydronephrosis, and spina bifida. Spinal and skeletal manifestations were thoracolumbar scoliosis, spinabifida (spina bifida occulta or spina bifida cystic), Bochdalek diaphragmatic hernia, and radial defects.There have been no further descriptions in the literature since 1987." "" + "spondyloarthropathy, susceptibility to, 2" "" + "spondyloepimetaphyseal dysplasia-hypotrichosis syndrome" "Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome is a rare primary bone dysplasia disorder characterized by congenital hypotrichosis associated with rhizomelic short stature (more pronounced in upper limbs than lower limbs), limited hip abduction and mild genu varum. Flared and irregular metaphyses, delayed and irregular epiphiseal ossification and pear-shaped vertebral bodies are characteristic radiologic findings." "" + "spondyloepiphyseal dysplasia with punctate corneal dystrophy" "" + "spondyloepiphyseal dysplasia congenita" "Spondyloepiphyseal dysplasia congenita (SEDC) is a chondrodysplasia characterized by disproportionate short stature, abnormal epiphyses and flattened vertebral bodies." "" + "spondyloepiphyseal dysplasia, MacDermot type" "Spondyloepiphyseal dysplasia (SED), MacDermot type is characterized by short stature, femoral epiphyseal dysplasia, mild vertebral changes and sensorineural deafness." "" + "spondyloepimetaphyseal dysplasia, Maroteaux type" "A very rare type of spondyloepiphyseal dysplasia described in fewer than 10 patients to date and characterized clinically by dysplastic epiphyses, short stature appearing in infancy, short neck, short and stubby hands and feet, scoliosis, genu valgum, abnormal pelvis, osteoporosis and osteoarthritis." "" + "spondyloepiphyseal dysplasia tarda, autosomal dominant" "Autosomal domiant spondyloepiphyseal dysplasia tarda (autosomal dominant SEDT) is an inherited condition that affects bone growth. Signs and symptoms are generally physically apparent by puberty; however, abnormalities may be seen on X-ray at an earlier age. Affected people may have skeletal abnormalities, short stature (with a short neck and trunk, specifically), scoliosis, kyphosis, lumbar hyperlordosis (exaggerated curvature of the lower back), and early-onset progressive osteoarthritis of the hips and knees. Some cases of autosomal dominant SEDT may be caused by changes (mutations) in the COL2A1 gene. As the name suggests, the condition is inherited in an autosomal dominant manner. Treatment is based on the signs and symptoms present in each person and may include surgery and pain management strategies." "" + "spondyloepiphyseal dysplasia tarda" "Spondyloepiphyseal dysplasia tarda (SEDT) is characterized by disproportionate short stature in adolescence or adulthood, associated with a short trunk and arms and barrel-shaped chest." "" + "spondylolisthesis" "A condition in which there is forward displacement of a vertebral bone over the on below it." "" + "spondyloepimetaphyseal dysplasia, Strudwick type" "Spondyloepimetaphyseal dysplasia congenita, Strudwick type is characterized by disproportionate short stature from birth (with a very short trunk and shortened limbs) and skeletal abnormalities (lordosis, scoliosis, flattened vertebrae, pectus carinatum, coxa vara, clubfoot, and abnormal epiphyses or metaphyses)." "" + "spondylometaphyseal dysplasia, Kozlowski type" "Spondylometaphyseal dysplasia, Kozlowski type is characterized by short stature (short-trunk dwarfism), scoliosis, metaphyseal abnormalities in the femur (prominent in the femoral neck and trochanteric area), coxa vara and generalized platyspondyly." "" + "spondylometaphyseal dysplasia, Schmidt type" "Spondylometaphyseal dysplasia, Schmidt type is characterized by short stature, myopia, small pelvis, progressive kypho-scoliosis, wrist deformity, severe genu valgum, short long bones, and severe metaphyseal dysplasia with moderate spinal changes and minimal changes in the hands and feet." "" + "spondylometaphyseal dysplasia, 'corner fracture' type" "A type of skeletal dysplasia associated with short stature, developmental coxa vara, progressive hip deformity, simulated 'corner fractures' of long tubular bones and vertebral body abnormalities (mostly oval vertebral bodies)." "" + "obsolete odontochondrodysplasia" "" "true" + "spondylosis, cervical" "" + "Sprengel deformity" "" + "stuttering, familial persistent, 1" "" + "stapes ankylosis with broad thumbs and toes" "Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia." "" + "sebocystomatosis" "Sebocystomatosis is characterized by multiple (100 to 2000) asymptomatic dermal cysts that usually occur on the sternal region, upper back, axillae and proximal parts of the extremities." "" + "genetic sebaceous gland anomaly" "An instance of sebaceous gland anomaly that is caused by a modification of the individual's genome." "" + "steatocystoma multiplex-natal teeth syndrome" "The syndrome steatocystoma multiplex and natal teeth is characterized by generalized multiple steatocystomas and natal teeth." "" + "polycystic ovary syndrome" "A disorder that manifests as multiple cysts on the ovaries. It results in hormonal imbalances and leads to irregular and abnormal menstrual periods, excess growth of hair, acne eruptions and obesity." "" + "holoprosencephaly-radial heart renal anomalies syndrome" "Holoprosencephaly-radial heart renal anomalies syndrome is characterised by holoprosencephaly, predominantly radial limb deficiency (absent thumbs, phocomelia), heart defects, kidney malformations and absence of gallbladder." "" + "sternum, premature obliteration of sutures of" "" + "otospondylomegaepiphyseal dysplasia, autosomal dominant" "A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by craniofacial dysmorphism (midface hypoplasia, depressed nasal bridge, small nose with upturned tip, cleft palate, Pierre Robin sequence), bilateral, pronounced sensorineural hearing loss, and skeletal/joint anomalies (including spondyloepiphyseal dysplasia, arthralgia/arthropathy), in the absence of ocular abnormalities." "" + "otospondylomegaepiphyseal dysplasia" "An inborn error of cartilage collagen formation characterized by sensorineural hearing loss, enlarged epiphyses, skeletal dysplasia with disproportionately short limbs, vertebral body anomalies and a characteristic facies." "" + "stiff-person syndrome" "Stiff-man syndrome (SMS) is a rare neurological disorder comprising fluctuating trunk and limb stiffness, painful muscle spasms, task-specific phobia, an exaggerated startle response, and ankylosing deformities such as fixed lumbar hyperlordosis." "" + "stiff skin syndrome" "A rare syndrome characterized by hard, thick skin, usually on the entire body. The thickening of the skin can limit joint mobility and causes joints to be stuck in a bent position (flexion contractures). The onset of signs and symptoms can range from presenting at birth through childhood. Other signs and symptoms may include excessive hair growth (hypertrichosis), loss of body fat (lipodystrophy), scoliosis, muscle weakness, slow growth, and short stature. Weakness or paralysis of the eye muscles have also been reported. Stiff skin syndrome is caused by mutations (changes) in the FBN1 gene and is inherited in an autosomal dominant manner. Diagnosis is based on a clinical evaluation that is consistent with stiff skin syndrome, and the diagnosis can be confirmed with genetic testing. Treatment is based on the symptoms of each individual and may include physical therapy." "" + "overhydrated hereditary stomatocytosis" "Overhydrated hereditary stomatocytosis (OHSt) is a disorder of red cell membrane permeability to monovalent cations and is characterized clinically by hemolytic anemia." "" + "cryohydrocytosis" "A rare, hereditary, hemolytic anemia due to a red cell membrane anomaly characterized by fatigue, mild anemia and pseudohyperkalemia due to a potassium leak from the red blood cells. A hallmark of this condition is that red blood cells lyse on storage at 4 degrees centigrade." "" + "platelet storage pool deficiency" "Platelet storage pool deficiency refers to a group of conditions that are caused by problems with the platelet granules. Platelet granules are tiny storage sacs found within the platelets which release various substances to help stop bleeding. Platelet storage pool deficiencies occur when platelet granules are absent, reduced in number, or unable to empty their contents into the bloodstream. The signs and symptoms include frequent nosebleeds; abnormally heavy or prolonged menstruation ; easy bruising; recurrent anemia ; and abnormal bleeding after surgery, dental work or childbirth. Platelet storage pool deficiencies may be genetic or acquired (non-genetic). They can also be part of an inherited genetic syndrome such as Hermansky-Pudlak syndrome, Chediak-Higashi syndrome, thrombocytopenia-absent radius (TAR) syndrome, and Wiskott-Aldrich syndrome. Treatment is symptomatic." "" + "storm syndrome" "" + "Stormorken syndrome" "Stormorken-Sjaastad-Langslet syndrome is characterized by thrombocytopathy, asplenia, miosis, muscle fatigue, migraine, dyslexia, and ichthyosis. It has been described in six members of one family. It is transmitted as an autosomal dominant trait." "" + "strabismus, susceptibility to" "" + "short stature-wormian bones-dextrocardia syndrome" "Short stature-wormian bones-dextrocardia syndrome is a multiple congenital anomalies syndrome characterized by wormian bones, dextrocardia and short stature due to a growth hormone deficiency. Additional manifestations that have been reported include brachycamptodactyly, kidney hypoplasia, bilateral cryptorchidism, midshaft hypospadias, imperforate anus/anorectal agenesis, body asymetry, mild developmental delay, hemimegalencephaly and facial dysmorphism, such as hypotelorism, downslanting palpebral fissures, low-set and posteriorly angulated ears, depressed nasal bridge, and microstomia." "" + "striae distensae, familial" "" + "Sturge-Weber syndrome" "Sturge-Weber syndrome (SWS) is a rare congenital neurocutaneous disorder characterized by facial capillary malformations and/or cerebral and ocular ipsilateral vascular malformations that result in variable degrees of ocular and neurological anomalies." "" + "palpebral tumor with a vascular malformation" "True" + "obsolete obsolete rare capillary malformation with associated anomalies" "" "true" + "sulfhemoglobinemia, congenital" "" + "Worster-Drought syndrome" "Worster-Drought syndrome (WDS) is a form of cerebral palsy characterized by congenital pseudobulbar (suprabulbar) paresis manifesting as selective weakness of the lips, tongue and soft palate, dysphagia, dysphonia, drooling and jaw jerking." "" + "progressive bulbar palsy" "Progressive bulbar palsy involves the brain stem. The brain stem is the part of the brain needed for swallowing, speaking, chewing, and other functions. Signs and symptoms of progressive bulbar palsy include difficulty swallowing, weak jaw and facial muscles, progressive loss of speech, and weakening of the tongue. Additional symptoms include less prominent weakness in the arms and legs, and outbursts of laughing or crying (called emotional lability). Progressive bulbar palsy is considered a variant form of amyotrophic lateral sclerosis (ALS). Many people with progressive bulbar palsy later develop ALS. While there is no cure for progressive bulbar palsy or for ALS, doctors can treat symptoms." "" + "supravalvular aortic stenosis" "SupraValvar Aortic Stenosis (SVAS) is characterized by the narrowing of the aorta lumen (close to its origin) or other arteries (branch pulmonary arteries, coronary arteries). This narrowing of the aorta or pulmonary branches may impede blood flow, resulting in heart murmur and ventricular hypertrophy (in case of aorta involvement). The narrowing results from a thickening of the artery wall, which is not related to atherosclerosis." "" + "surface antigen, glycoprotein 75" "" + "symphalangism of toes" "" + "surface polypeptides, anonymous" "" + "symphalangism, C. S. Lewis type" "" + "distal symphalangism" "Distal symphalangism is a very rare bone disorder characterized by ankylosis of the distal interphalangeal joints of the hands and/or feet." "" + "symphalangism with multiple anomalies of hands and feet" "Symphalangism with multiple anomalies of hands and feet is an exceedingly rare syndrome described in one family and characterized by proximal symphalangism and multiple hand and feet disorders (syndactyly, clinodactyly, hypoplasia of the thenar and hypothenar eminences, and a distinctive dermatoglyphic pattern). There have been no further descriptions in the literature since 1981." "" + "proximal symphalangism" "Proximal symphalangism is a very rare, genetic bone disorder characterized by ankylosis of the proximal interphalangeal joints, carpal and tarsal bone fusion, and conductive hearing loss in some patients." "" + "syndactyly type 1" "Syndactyly type 1 (SD1), also named zygodactyly in the past, is a distal limb malformation characterized by complete or partial webbing between the 3th and 4th fingers and/or the 2nd and 3rd toes." "" + "synpolydactyly type 1" "Any non-syndromic synpolydactyly in which the cause of the disease is a mutation in the HOXD13 gene." "" + "syndactyly type 2" "Syndactyly type 2 or synpolydactyly (SPD) is a rare congenital distal limb malformation characterized by the combination of syndactyly and polydactyly." "" + "syndactyly type 3" "Syndactyly type 3 (SD3) is a rare congenital distal limb malformation characterized by complete and bilateral syndactyly between the 4th and 5th fingers." "" + "syndactyly type 4" "Syndactyly type 4 (SD4) is a very rare congenital distal limb malformation characterized by complete bilateral syndactyly (involving all digits 1 to 5)." "" + "syndactyly type 5" "Syndactyly type 5 (SD5) is a very rare congenital limb malformation characterized by postaxial syndactyly of hands and feet, associated with metacarpal and metatarsal fusion of fourth and fifth digits." "" + "syndactyly-polydactyly-ear lobe syndrome" "" + "calcaneonavicular coalition" "A synostosis characterized by the fusion of carpal and tarsal bones, which causes stiffness and immobility of the hands and the feet." "" + "tarsal-carpal coalition syndrome" "Tarsal-carpal coalition syndrome is characterised by fusion of the carpals, tarsals, and phalanges." "" + "multiple synostoses syndrome 1" "Any multiple synostoses syndrome in which the cause of the disease is a mutation in the NOG gene." "" + "multiple synostoses syndrome" "Multiple synostoses syndrome (MSS) is a rare developmental bone disorder characterized by proximal symphalangism of the fingers and/or toes often associated with fusion of carpal and tarsal, humeroradial, and cervical spine joints." "" + "brachydactyly-elbow wrist dysplasia syndrome" "Brachydactyly-elbow wrist dysplasia syndrome is a rare, genetic bone development disorder characterized by dysplasia of all the bony components of the elbow joint, abnormally shaped carpal bones, wrist joint radial deviation and brachydactyly. Patients typically present with slight flexion at the elbow joints (with impossibilty to perform active extension) and usually associate a limited range of motion of the elbow, wrist and finger articulations. Camptodactyly and syndactyly have also been reported." "" + "synovial chondromatosis, familial, with dwarfism" "" + "Blau syndrome" "Blau syndrome (BS) is a rare systemic inflammatory disease characterized by early onset granulomatous arthritis, uveitis and skin rash. BS now refers to both the familial and sporadic (formerly early-onset sarcoidosis) form of the same disease. The proposed term pediatric granulomatous arthritis is currently questioned since it fails to represent the systemic nature of the disease." "" + "secondary interstitial lung disease specific to childhood associated with a granulomatous disease" "True" + "obsolete other genetic dermis disorder" "True" "true" + "obsolete other dermis disorder" "" "true" + "syringomas, multiple" "" + "syringomyelia, isolated" "" + "primary syringomyelia" "" + "talonavicular coalition" "" + "tarsal coalition" "" + "tear protein, anodal" "" + "T-cell Subgroups, non-HLA-linked" "" + "teeth, odd shapes of" "" + "obsolete T-complex locus TCP10B" "" "true" + "teeth present at birth" "" + "teeth, supernumerary" "An extra tooth, erupted or unerupted, resembling or unlike the other teeth in the group to which it belongs. Its presence may cause malposition of adjacent teeth or prevent their eruption." "" + "generalized essential telangiectasia" "" + "telangiectasia, hereditary hemorrhagic, type 1" "" + "hereditary hemorrhagic telangiectasia" "Rendu-Osler-Weber disease, also called hereditary hemorrhagic telangiectasia (HHT), is a disorder of angiogenesis leading to arteriovenous dilatations: cutaneo-mucosal hemorrhagic telangiectasias and visceral shunting." "" + "temperature-sensitive lethal mutation" "" + "canthal anomaly" "" + "obsolete distal arthrogryposis type 10" "" "true" + "extensor tendons of finger anomalies" "" + "spermatic cord torsion" "An emergency condition caused by the twisting of the spermatic cord which contains the vessels that provide the blood supply to the testis and surrounding structures. It manifests with acute testicular pain. If immediate medical assistance is not provided, it will lead to necrosis and loss of the testicular tissue." "" + "tetralogy of fallot" "Tetralogy of Fallot is a congenital cardiac malformation that consists of an interventricular communication, also known as a ventricular septal defect, obstruction of the right ventricular outflow tract, override of the ventricular septum by the aortic root, and right ventricular hypertrophy." "" + "tetralogy of fallot and glaucoma" "" + "tetramelic monodactyly" "Tetramelic monodactyly is a rare, genetic, congenital limb malformation disorder characterized by the presence of a single digit on all four extremities. Malformation is typically isolated however, aplastic and hypoplastic defects in the remaining skeletal parts of hands and feet have been reported. There have been no further descriptions in the literature since 1992." "" + "thalassemia, beta+, silent allele" "" + "beta thalassemia" "Beta-thalassemia (BT) is characterized by deficiency (Beta+) or absence (Beta0) of synthesis of the beta globin chains of hemoglobin (Hb)." "" + "thanatophoric dysplasia type 1" "Thanatophoric dysplasia type 1 (TD1) is a form of TD characterized by short, bowed femurs, micromelia, narrow thorax, and brachydactyly." "" + "thanatophoric dysplasia" "Thanatophoric dysplasia (TD) is a severe and generally lethal skeletal dysplasia presenting in the prenatal period and characterized by micromelia, macrocephaly, narrow thorax, and distinctive facial features. It includes TD, type 1 (TD1) and TD, type 2 (TD2), that can be differentiated from each other by femur and skull shape." "" + "severe achondroplasia-developmental delay-acanthosis nigricans syndrome" "Severe achondroplasia-developmental delay-acanthosis nigricans syndrome is characterised by the association of severe achondroplasia with developmental delay and acanthosis nigricans. It has been described in four unrelated individuals. Structural central nervous system anomalies, seizures and hearing loss were also reported, together with bowing of the clavicle, femur, tibia and fibula in some cases. The syndrome is caused by a Lys650Met substitution in the kinase domain of fibroblast growth factor receptor 3 (encoded by the FGFR3 gene; 4p16.3)." "" + "theophylline Biotransformation" "" + "thoracic dysostosis, isolated" "" + "obsolete thoracolaryngopelvic dysplasia" "" "true" + "thoracolaryngopelvic dysplasia" "Thoracolaryngopelvic dysplasia is a short-rib dysplasia characterized by thoracic dystrophy, laryngeal stenosis and a small pelvis." "" + "short rib dysplasia" "" + "platelet-type bleeding disorder 16" "An inherited blood coagulation disease characterized by autosomal dominant inheritance with macrothrombocytopenia, platelet anisocytosis, prolonged bleeding time but only mildly increased bleeding tendency that has material basis in heterozygous mutation in the ITGA2B gene on chromosome 17q21.31 or the ITGB3 gene on chromosome 17q21.32." "" + "platelet-type bleeding disorder 17" "An autosomal dominant condition caused by mutation(s) in the GFI1B gene, encoding zinc finger protein Gfi-1b. It is characterized by a tendency for increased bleeding due to abnormal platelet function." "" + "thrombocythemia 1" "" + "familial thrombocytosis" "Familial thrombocytosis is a type of thrombocytosis, a sustained elevation of platelet numbers, which affects the platelet/megakaryocyte lineage and may create a tendency for thrombosis and hemorrhage but does not cause myeloproliferation." "" + "thrombocytopenia 2" "An autosomal dominant disorder caused by mutation(s) in the ANKRD26 gene, encoding ANKRD26 protein. Additionally, in one family, a mutation(s) has been identified in the MASTL gene, encoding serine/threonine-protein kinase greatwall. The condition is characterized by mild to moderate bruisability." "" + "inherited thrombocytopenia" "An instance of thrombocytopenia that is inherited." "" + "autosomal thrombocytopenia with normal platelets" "" + "thrombocytopenia, cyclic" "" + "Paris-Trousseau thrombocytopenia" "Paris-Trousseau thrombocytopenia (TCPT) is a contiguous gene syndrome characterized by mild bleeding tendency, variable thrombocytopenia (THC), dysmorphic facies, abnormal giant alpha-granules in platelets and dysmegakaryopoiesis." "" + "autoimmune thrombocytopenic purpura" "An autoimmune disorder in which the number of circulating platelets is reduced due to their antibody-mediated destruction. ITP is a diagnosis of exclusion and is heterogeneous in origin." "" + "autoimmune thrombocytopenia" "An autoimmune form of thrombocytopenia." "" + "thrombocytopenic purpura" "Purpura associated with a reduction in circulating blood platelets which can result from a variety of factors." "" + "thrombophilia due to thrombin defect" "The formation of a blood clot (thrombus) in the lumen of a vein." "" + "thrombophilia due to activated protein C resistance" "A hemostatic disorder characterized by a poor anticoagulant response to activated protein C (APC). The activated form of Factor V (Factor Va) is more slowly degraded by activated protein C. Factor V Leiden mutation (R506Q) is the most common cause of APC resistance." "" + "thumb deformity" "" + "thumb deformity-alopecia-pigmentation anomaly syndrome" "Thumb deformity-alopecia-pigmentation anomaly syndrome is a rare, genetic, congenital limb malformation syndrome characterized by short stature, sparse scalp hair, hypoplastic, proximally-placed thumbs, and skin hyperpigmentation with areas of 'raindrop' depigmentation. Presence of a single, upper central incisor has also been reported. There have been no further descriptions in the literature since 1988." "" + "thumb stiffness-brachydactyly-intellectual disability syndrome" "Thumb stiffness-brachydactyly-intellectual disability syndrome is characterized by intellectual deficit, mild dysmorphism, type A brachydactylia, signs of obesity and ankylosis of both thumbs. It has been reported in several females from one family (a girl and her mother, her grandmother and probably also her sister and her great-aunt), as well as in an isolated case." "" + "DiGeorge syndrome" "A congenital anomaly characterized by immunodeficiency, abnormal facies, congenital heart disease, hypocalcemia, and increased susceptibility to infections. Pathologic characteristics include conotruncal abnormalities and absence or hypoplasia of thymus and parathyroid glands. DiGeorge syndrome is associated with abnormalities of chromosome 22. Also known as DiGeorge anomaly." "" + "familial thyroglossal duct cyst" "Familial thyroglossal duct cyst (TDC) is a very rare inherited form of TDC characterized by a mass measuring 3 cm in diameter or less in the midline area of the neck." "" + "congenital thyroid malformation without hypothyroidism" "True" + "thyroid cancer, nonmedullary, 2" "" + "familial papillary or follicular thyroid carcinoma" "A papillary or follicular thyroid gland carcinoma with a genetic component that develops within the same family. Current studies suggest that it is inherited in an autosomal dominant pattern. It is often multifocal and bilateral and usually affects younger patients." "" + "thyroid cancer, nonmedullary, 1" "" + "familial nonmedullary thyroid carcinoma" "Familial nonmedullary thyroid carcinoma (fNMTC) is a rare non-syndromic form of thyroid cancer characterized by occurrence of thyroid carcinoma (TC) as the primary feature in a familial setting." "" + "thyroid hormone plasma membrane transport defect" "" + "thyroid hormone resistance, generalized, autosomal dominant" "" + "generalized resistance to thyroid hormone" "A thyroid hormone resistance syndrome characterized by resistance in the pituitary gland and in most or all of the peripheral tissues." "" + "thyrotoxic periodic paralysis, susceptibility to, 1" "Any thyrotoxic periodic paralysis in which the cause of the disease is a mutation in the CACNA1S gene." "" + "thyrotoxic periodic paralysis" "Thyrotoxic periodic paralysis (TPP) is a rare neurological disease characterized by recurrent episodes of paralysis and hypokalemia during a thyrotoxic state." "" + "Blount disease, infantile" "" + "Blount disease" "Blount disease is characterized by disturbed growth of the inner portion of the upper tibial extremity, progressively leading to bowlegged deformity with bone angulation just below the knee (tibia varus). In 60% of cases, the condition affects both legs." "" + "tibia, hypoplasia or aplasia of, with polydactyly" "" + "tibial torsion, bilateral medial" "" + "obsolete Tl antigen" "" "true" + "nicotine dependence" "Physical and psychological dependence on nicotine." "" + "toe, fifth, number of phalanges 1N" "" + "toe, misshapen" "" + "toe, rotated fifth" "" + "toes, relative length of first and second" "" + "toes, space between first and second" "" + "malposition of teeth with or without hypodontia/oligodontia" "" + "tooth and nail syndrome" "Hypodontia-nail dysplasia syndrome is a form of ectodermal dysplasia." "" + "inherited torticollis" "A congenital benign lesion that occurs in the distal sternocleidomastoid muscle of infants. It is characterized by the presence of plump spindle cells, and collagenous stroma formation." "" + "torus palatinus and torus mandibularis" "" + "HELLP syndrome" "A life-threatening condition that can potentially complicate pregnancy. It is named for 3 features of the condition: H emolysis, E levated L iver enzyme levels, and L ow P latelet levels. It typically occurs in the last 3 months of pregnancy (the third trimester) but can also start soon after delivery. A wide range of non-specific symptoms may be present in women with HELLP syndrome. Symptoms may include fatigue; malaise; fluid retention and excess weight gain; headache; nausea and vomiting; pain in the upper right or middle of the abdomen; blurry vision; and rarely, nosebleed or seizures. The cause of HELLP syndrome is not known, but certain risk factors have been associated with the condition. It is most common in women with preeclampsia or eclampsia. If not diagnosed and treated quickly, HELLP syndrome can lead to serious complications for the mother and baby.The main treatment is to deliver the baby as soon as possible, even if premature. Treatment may also include medications needed for the mother or baby, and blood transfusion for severe bleeding problems." "" + "esophageal atresia/tracheoesophageal fistula" "Oesophageal atresia (OA) encompasses a group of congenital anomalies with an interruption in the continuity of the oesophagus, with or without persistent communication with the trachea." "" + "non-syndromic esophageal malformation" "A esophageal malformation that is not part of a larger syndrome." "" + "tracheobronchopathia osteochondroplastica" "Tracheobronchopathia osteochondroplastica (TO) is an idiopathic and benign disease of the large airways characterized by submucosal osteocartilaginous nodules presenting in the trachea with or without the involvement of the major bronchi." "" + "hereditary geniospasm" "Hereditary geniospasm is a movement disorder characterized by episodes of involuntary tremor of the chin and lower lip." "" + "tremor of intention, ataxia, and lipofuscinosis" "" + "tremor, hereditary essential, 1" "Any essential tremor in which the cause of the disease is a mutation in the DRD3 gene." "" + "tremor-nystagmus-duodenal ulcer syndrome" "" + "tricho-dento-osseous syndrome" "Tricho-dento-osseous dysplasia (TDO) belongs to the ectodermal dysplasias and is characterised by curly/kinky hair at birth, enamel hypoplasia with discolouration and molar taurodontism, increased overall bone mineral density (BMD) and increased thickness of the cortical bones of the skull." "" + "syndromic hair shaft abnormality" "" + "trichomegaly" "" + "familial multiple discoid fibromas" "A rare, genetic, skin tumor disorder characterized by childhood-onset of multiple, benign, asymptomatic, white to flesh-colored papules predominently located on the face, ears, neck and trunk, not associated with systemic organ involvement, associated malignancies or FLCN gene locus mutation." "" + "trichoepitheliomas, multiple desmoplastic" "" + "trichorhinophalangeal syndrome type I" "An autosomal dominant malformation syndrome caused by mutations in TRPS1 characterized by distinctive craniofacial and skeletal abnormalities. TRPS I patients have sparse scalp hair, bulbous tip of the nose, long flat philtrum, thin upper vermilion border, and protruding ears. Skeletal abnormalities include cone-shaped epiphyses at the phalanges, hip malformations, and short stature." "" + "trichorhinophalangeal syndrome, type III" "A trichorhinophalangeal syndrome caused by mutations in TRPS1 characterized by the presence of severe brachydactyly, due to short metacarpals, and severe short stature." "" + "trichodysplasia-xeroderma syndrome" "Trichodysplasia-xeroderma syndrome is an extremely rare, syndromic hair shaft anomaly characterized by sparse, coarse, brittle, excessively dry and slow-growing scalp hair, sparse axillary and pubic hair, sparse or absent eyelashes and eyebrows and dry skin. Hair shaft analysis shows pili torti, longitudinal splitting, grooves, peeling and scaling. There have been no further descriptions in the literature since 1987." "" + "trigeminal neuralgia" "Trigeminal neuralgia is a nerve disorder that causes a stabbing or electric-shock-like pain in parts of the face. The pain lasts a few seconds to a few minutes, and usually on only one side of the face. It can also cause muscle spasms in the face the same time as the pain. The pain may result from a blood vessel pressing against the trigeminal nerve (the nerve that carries pain, feeling, and other sensations from the brain to the skin of theface), as a complication of multiple sclerosis, or due to compression of the nerve by a tumor or cyst. In some cases, the cause is unknown. Treatment options include medicines, surgery, and complementary approaches." "" + "trigger thumb" "A painful disability in the hand affecting the finger or thumb. It is caused by mechanical impingement of the digital flexor tendons as they pass through a narrowed retinacular pulley at the level of the metacarpal head. Thickening of the sheath and fibrocartilaginous metaplasia can occur, and nodules can form. (From Green's Operative Hand Surgery, 5th ed, p2137-58)." "" + "triglyceride storage disease, type 1" "" + "triglyceride storage disease, type 2" "" + "trigonocephaly 1" "Any isolated trigonocephaly in which the cause of the disease is a mutation in the FGFR1 gene." "" + "isolated trigonocephaly" "Isolated trigonocephaly is a nonsyndromic form of craniosynostosis characterized by the premature fusion of the metopic suture." "" + "triphalangeal thumb with double phalanges" "" + "triphalangeal thumb, Nonopposable" "" + "Say-field-Coldwell syndrome" "Say-Field-Coldwell syndrome is characterised by triphalangeal thumbs, brachydactyly, camptodactyly, recurrent dislocation of the patellas and relatively short stature. It has been described in a mother and her three daughters." "" + "triphalangeal thumbs-brachyectrodactyly syndrome" "Triphalangeal thumbs-brachyectrodactyly syndrome is characterised by triphalangeal thumbs and brachydactyly of the hands. It has been described in four families and in one isolated case. Ectrodactyly of the feet and, more rarely, ectrodactyly of the hands were also reported in some family members. Transmission is autosomal dominant." "" + "total autosomal trisomy" "" + "obsolete rare syndrome with cardiac malformations" "True" "true" + "obsolete chromosomal anomaly with epilepsy as a major feature" "True" "true" + "obsolete Moyamoya syndrome" "" "true" + "Tristichiasis" "" + "blue color blindness" "Tritanopia is an extremely rare form of colour blindness characterised by a selective deficiency of blue vision." "" + "humerus trochlea aplasia" "Humerus trochlea aplasia is an extremely rare familial bone deformity described only in Japanese patients to date. The deformity is bilateral in nearly half of patients (with bilateral involvement, the condition is symmetrical) and sometimes causes ulnar nerve palsy or cubitus varus." "" + "tuberous sclerosis 1" "Tuberous sclerosis mapped to chromosome 9q34 (TSC1 gene)." "" + "tuberous sclerosis complex" "A neurocutaneous disorder characterized by multisystem hamartomas and associated with neuropsychiatric features." "" + "Tuftsin deficiency" "" + "suppressor of tumorigenicity 3" "" + "tune deafness" "" + "twinning due to superfetation" "" + "inflammatory bowel disease 11" "An inflammatory bowel disease that has material basis in variation in the chromosome region 7q22." "" + "mesomelic dwarfism, Reinhardt-Pfeiffer type" "Mesomelic dwarfism, Reinhardt-Pfeiffer type is characterized by disproportionate short stature from birth with dysplasia of the ulna and fibula." "" + "ulna metaphyseal dysplasia syndrome" "Ulna metaphyseal dysplasia syndrome is a rare primary bone dysplasia characterized by dysplasia of the distal ulnar metaphyses, as well as metacarpal/metatarsal dysplasia and metaphyseal changes resembling enchondromata. Patients usually present bony swelling of the wrists with or without pain (knees and ankles may also be affected). Other variably associated features include platyspondyly, skeletal development delay, short stature and coxa valga." "" + "upper limb mesomelic dysplasia" "This syndrome is an isolated upper limb mesomelic dysplasia. It has been described in four patients from two unrelated families (a man and his daughter, and a Lebanese man and his son). Patients present with ulnar hypoplasia with severe radial bowing, but normal stature. The mode of transmission is likely to be autosomal dominant with variable expressivity." "" + "uncombable hair syndrome" "Uncombable hair syndrome (UHS), or pili trianguli et canaliculi, is a rare scalp hair shaft dysplasia." "" + "tricho-retino-dento-digital syndrome" "Tricho-retino-dento-digital syndrome is an autosomal dominant ectodermal dysplasia syndrome, characterized by uncombable hair syndrome, congenital hypotrichosis and dental abnormalities such as oligodontia or hyperdontia, and associated with early-onset cataract, retinal pigmentary dystrophy, and brachydactyly with brachymetacarpia. Furthermore, hyperactivity and a mild intellectual deficit have been reported in affected patients." "" + "Undritz anomaly" "" + "Upington disease" "Upington disease is characterised by Perthes-like pelvic anomalies (premature closure of the capital femoral epiphyses and widened femoral necks with flattened femoral heads), enchondromata and ecchondromata. It has been described in siblings from three generations of one family. Transmission is autosomal dominant." "" + "urate-binding globulin, decrease 1N" "" + "ureter, bifid or double" "" + "ureterocele" "A cystic and dysplastic dilation of the distal ureter within the bladder that may extend into the bladder neck and urethra." "" + "urolithiasis, uric acid, autosomal dominant" "" + "urinary bladder, atony of" "" + "obsolete renal agenesis" "" "true" + "urticaria, aquagenic" "Aquagenic urticaria is a rare condition in which urticaria (hives) develop rapidly after the skin comes in contact with water, regardless of its temperature. It most commonly affects women and symptoms often start around the onset of puberty. Some patients report itching too. It is a form of physical urticaria . The exact underlying cause of aquagenic urticaria is currently unknown. Due to the rarity of the condition, there is very limited data regarding the effectiveness of individual treatments; however, various medications and therapies have been used with variable success." "" + "Muckle-Wells syndrome" "Muckle-Wells syndrome (MWS) is an intermediate form of cryopyrin-associated periodic syndrome (CAPS) and is characterized by recurrent fever (with malaise and chills), recurrent urticaria-like skin rash, sensorineural deafness, general signs of inflammation (eye redness, headaches, arthralgia/myalgia) and potentially life-threatening secondary amyloidosis (AA type)." "" + "cryopyrin-associated periodic syndrome" "Cryopyrin associated periodic syndrome (CAPS) defines a group of autoinflammatory diseases, characterized by recurrent episodes of systemic inflammatory attacks in the absence of infection or autoimmune disease. CAPS comprises 3 disorders on a continuum of severity: severe CINCA syndrome, intermediate Muckle-Wells syndrome (MWS) and milder familial cold urticaria (FCAS)." "" + "urticaria, familial localized heat" "" + "uterine anomalies" "" + "double uterus-hemivagina-renal agenesis syndrome" "Double uterus, hemivagina and renal agenesis is a rare congenital urogenital anomaly characterized by the presence of double uterus (didelphys, bicornuate or septum-complete or partial), unilateral cervico-vaginal obstruction (obstructed hemivagina-communicant, not communicant or septate and unilateral cervical atresia) and ipsilateral renal anomalies (renal agenesis and/or other urinary tract anomalies). Patients are usually diagnosed at puberty after menarche due to recurrent severe dysmenorrhea, chronic pelvic pain, excessive foul smelling mucopurulent discharge, spotting and intermenstrual bleeding (depending on the existence of uterine or vaginal communications). fever, dyspareunia, and a palpable abdominal, pelvic or vaginal mass (mucocolpos or pyocolpos) may also be present." "" + "bifid uvula" "Bifid uvula is a fissure type embryopathy affecting the uvula at the back of the soft palate." "" + "vascular helix of umbilical cord" "" + "vasculitis, lymphocytic, nodular" "Lymphocytic vasculitis is one of several skin conditions which are collectively referred to as cutaneous vasculitis. In lymphocytic vasculitis, white blood cells (lymphocytes) cause damage to blood vessels in the skin. This condition is thought to be caused by a number of factors, but the exact cause of most cases is not known. This disease can present with a variety of symptoms, depending on the size, location, and severity of the affected area. In a minority of patients, cutaneous vasculitis can be part of a more severe vasculitis affecting other organs in the body - this is known as systemic vasculitis." "" + "retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations" "Retinal vasculopathy and cerebral leukodystrophy (RVCL) is an inherited group of small vessel diseases comprised of cerebroretinal vasculopathy (CRV), hereditary vascular retinopathy (HRV) and hereditary endotheliopathy with retinopathy, nephropathy and stroke (HERNS); all exhibiting progressive visual impairment as well as variable cerebral dysfunction." "" + "disease of glomerular basement membrane" "" + "VACTERL/vater association" "VACTERL/VATER is an association of congenital malformations typically characterized by the presence of at least three of the following: vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities." "" + "multiple congenital anomalies/dysmorphic syndrome without intellectual disability" "" + "syndromic esophageal malformation" "A esophageal malformation that is part of a larger syndrome." "" + "veins, pattern of, on anterior thorax" "" + "velocardiofacial syndrome" "A chromosomal disease that has material basis in deletion polymorphisms at chromosome location 22q11 and is characterized by variable developmental problems and schizoid features." "" + "ventricular extrasystoles with syncopal episodes-perodactyly-robin sequence syndrome" "This syndrome is characterized by cardiac arrhythmias (ventricular extrasystoles manifesting as bigeminy or multifocal tachycardia with syncopal episodes), perodactyly (hypoplasia and/or agenesis of the distal phalanges of the toes) and Pierre-Robin sequence." "" + "obsolete long QT syndrome 1" "" "true" + "hypertrophic cardiomyopathy 1" "Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the MYH7 gene." "" + "ventricular tachycardia, familial" "An instance of ventricular tachycardia that is caused by an inherited modification of the individual's genome." "" + "venular insufficiency, systemic" "" + "posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome" "Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome is characterized by congenital ptosis and posterior fusion of the lumbosacral vertebrae. It has been described in a mother and her two daughters." "" + "vertebral hypoplasia with lumbar kyphosis" "" + "congenital vertical talus" "Isolated congenital vertical talus (CVT) is a rare pedal deformity recognizable at birth by a dislocation of the talonavicular joint, resulting in a characteristic radiographic near-vertical orientation of the talus." "" + "congenital deformities of limbs" "" + "vesicoureteral reflux 1" "" + "familial vesicoureteral reflux" "Familial vesicoureteral reflux is a rare, non-syndromic urogenital tract malformation characterized by the familial occurrence of retrograde flow of urine from the bladder into the ureter and sometimes the kidneys. Patients may be asymptomatic or may present with recurrent, sometimes febrile, urinary tract infections that, in case of acute pyelonephritis, may lead to serious complications (renal scarring, hypertension, renal failure). Spontaneous resolution of the disorder is possible." "" + "nystagmus 4, congenital, autosomal dominant" "" + "vestibulocochlear dysfunction, progressive" "" + "obsolete benign paroxysmal positional nystagmus" "" "true" + "obsolete vibratory angioedema" "" "true" + "virus Rd114 RNA Complementarity" "" + "transcobalamin I deficiency" "" + "inborn disorder of cobalamin metabolism and transport" "" + "autosomal dominant hypophosphatemic rickets" "Autosomal dominant hypophosphatemic rickets (ADHR) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia." "" + "vitiligo" "Generalized well circumscribed patches of leukoderma that are generally distributed over symmetric body locations and is due to autoimmune destruction of melanocytes." "" + "autosomal dominant vitreoretinochoroidopathy" "Autosomal dominant vitreoretinochoroidopathy (ADVIRC) is a genetic vitreous-retinal disease characterized by ocular developmental anomalies such as microcornea, a shallow anterior chamber, glaucoma and cataract. Abnormal chorioretinal pigmentation is present, usually lying between the vortex veins and the ora serrata for 360 degrees." "" + "snowflake vitreoretinal degeneration" "Snowflake vitreoretinal degeneration (SVD) is characterised by the presence of small granular-like deposits resembling snowflakes in the retina, fibrillary vitreous degeneration and cataract. The prevalence is unknown but the disorder has been described in several families. Transmission is autosomal dominant and the causative gene has been localised to a small region on chromosome 2q36." "" + "obsolete autosomal dominant neovascular inflammatory vitreoretinopathy" "" "true" + "ptosis-vocal cord paralysis syndrome" "Ptosis-vocal cord paralysis syndrome is a rare, hereditary disorder with ptosis characterized by the combination of congenital bilateral recurrent laryngeal nerve paralysis and congenital bilateral ptosis. There have been no further descriptions in the literature since 1983." "" + "volvulus of midgut" "A congenital abnormality in which the intestine is abnormally rotated (twisted). It may result in intestinal obstruction." "" + "multiple polyglandular tumor" "" + "von Willebrand disease 1" "Type 1 von Willebrand disease (type 1 VWD) is a form of VWD characterized by a bleeding disorder associated with a partial quantitative plasmatic deficiency of an otherwise structurally and functionally normal Willebrand factor (von Willebrand factor; VWF)." "" + "vulvovaginitis, allergic seminal" "" + "Waardenburg syndrome type 1" "Waardenburg syndrome type 1 (WS1) is a subtype of Waardenburg syndrome (WS), disorder characterized by congenital deafness, minor defects in structures arising from neural crest resulting in pigmentation anomalies of eyes, hair, and skin, in combination with dystopia canthorum." "" + "Waardenburg syndrome type 2A" "Waardenburg syndrome Type 2 caused by mutations in the MITF gene." "" + "Waardenburg syndrome type 2" "Waardenburg syndrome type 2 (WS2) is an autosomal dominant subtype of Waardenburg syndrome (WS), characterized by varying degrees of deafness and pigmentation anomalies of eyes, hair and skin, but without dystopia canthorum." "" + "Watson syndrome" "Watson syndrome is believed to be a variant of neurofibromatosis type 1. The symptoms of this condition are pulmonary valvular stenosis, cafe-au-lait spots and short stature. IQTest scores for individuals with Watson syndromecan rangebetween 60-100.Many people with this condition also have a larger than average head size (macrocephaly) and Lisch nodules. While mutations in the NF1 gene have been found in families with Watson syndrome, the exactcause of this condition is unknown. The conditionis inherited in an autosomal dominant pattern. Treatment aims at managing the specific symptoms of an individual." "" + "neurofibromatosis-Noonan syndrome" "Neurofibromatosis-Noonan syndrome (NFNS) is a RASopathy and a variant of neurofibromatosis type 1 (NF1) characterized by the combination of features of NF1, such as cafC)-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, optic nerve glioma and multiple neurofibromas; and Noonan syndrome (NS), such as short stature, typical facial features (hypertelorism, ptosis, downslanting palpebral fissures, low-set posteriorly rotated ears with a thickened helix, and a broad forehead), congenital heart defects and unusual pectus deformity. As these three entities have significant phenotypic overlap, molecular genetic testing is often necessary for a correct diagnosis (such as when cafC)-au-lait spots are present in patients diagnosed with NS)." "" + "acrofacial dysostosis, Weyers type" "Acrofacialdysostosis, Weyers type (WAD) is a rare ectodermal dysplasia syndrome with bone abnormalities characterized by onychodystrophy; anomalies of the lower jaw, oral vestibule and dentition; post-axialpolydactyly; moderately restricted growth with short limbs; and normal intelligence. Although it closely resembles Ellis-van Creveld syndrome, an allelic disorder and another type of ciliopathy, WAD is usually a milder disease without the presence of heart abnormalities and is inherited in an autosomal dominant manner." "" + "obsolete WHIM syndrome" "" "true" + "freeman-Sheldon syndrome" "Freeman-Sheldon syndrome (FSS) is a very rare, multiple congenital contractures syndrome characterized by a microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. FSS is the most severe form of distal arthrogryposis." "" + "white sponge nevus 1" "Any hereditary mucosal leukokeratosis in which the cause of the disease is a mutation in the KRT4 gene." "" + "hereditary mucosal leukokeratosis" "White sponge nevus (WSN) is a rare and autosomal dominant genetic disease in which the oral mucosa is white or greyish, thickened, folded, and spongy. The onset is early in life, and both sexes are affected equally. Other common sites include the tongue, floor of the mouth, and alveolar mucosa." "" + "widow's peak" "" + "Williams syndrome" "Williams syndrome is a rare genetic multisystemic neurodevelopmental disorder characterized by a distinct facial appearance, cardiac anomalies (most frequently supravalvular aortic stenosis), cognitive and developmental abnormalities, and connective tissue abnormalities (such as joint laxity)" "" + "partial deletion of the long arm of chromosome 7" "Chromosome 7q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 7. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 7q deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person." "" + "motor stereotypies" "" + "neurodevelopmental disorder" "A behavioral and cognitive disorder with onset during the developmental period that involves impaired or aberrant development of intellectual, motor, or social functions." "" + "Wilms tumor 2" "" + "WAGR syndrome" "WAGR syndrome (Wilms tumor - aniridia - genitourinary anomalies - intellectual disability mental retardation) is a rare genetic disorder characterized by an unusual complex of congenital developmental abnormalities with intellectual disability, and an increased risk of developing Wilms tumor." "" + "partial deletion of the short arm of chromosome 11" "" + "Denys-Drash syndrome" "Denys-Drash syndrome (DDS) is a rare urogenital disorder characterized by the association of diffuse mesangial sclerosis (DMS), male pseudohermaphroditism with a 46,XY karyotype, and nephroblastoma." "" + "Wilms tumor 3" "" + "Wolf-Hirschhorn syndrome" "Wolf-Hirschhorn syndrome (WHS) is a developmental disorder characterized by typical craniofacial features, prenatal and postnatal growth impairment, intellectual disability, severe delayed psychomotor development, seizures, and hypotonia." "" + "chromosome 4 short arm deletion" "" + "Wolff-Parkinson-white syndrome" "A cardiac conduction disorder characterized by an electrocardiographic finding of ventricular pre-excitation, which is a short PR interval and a long QRS interval with a delta wave. Most individuals are asymptomatic; however they can experience periods of palpitations, shortness of breath or syncope during tachycardic episodes." "" + "isolated familial woolly hair disorder" "Woolly hair is a rare congenital abnormality of the structure of the scalp hair marked by extreme kinkiness of the hair." "" + "Woronets trait" "" + "WT limb-blood syndrome" "WT limb-blood syndrome is characterised by haematological anomalies (Fanconi anaemia, leukaemia and lymphoma) often appearing during childhood. Anomalies of the limbs and hands are also present: bifid or hypoplastic thumbs, cutaneous syndactyly, and ulnar and radial defects. The syndrome has been described in several families. Transmission is autosomal dominant." "" + "dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema" "" + "dehydrated hereditary stomatocytosis" "Dehydrated hereditary stomatocytosis (DHS) is a rare hemolytic anemia characterized by a decreased red cell osmotic fragility due to a defect in cation permeability, resulting in red cell dehydration and mild to moderate compensated hemolysis. Pseudohyperkalemia (loss of potassium ions from red cells on storage at room temperature) is sometimes observed." "" + "xeroderma pigmentosum, autosomal dominant, mild" "" + "xeroderma pigmentosum" "Xeroderma pigmentosum (XP) is a rare genodermatosis characterized by extreme sensitivity to ultraviolet (UV)-induced changes in the skin and eyes, and multiple skin cancers. It is subdivided into 8 complementation groups, according to the affected gene: classical XP (XPA to XPG) and XP variant (XPV)." "" + "zinc, elevated plasma" "" + "abetalipoproteinemia" "Abetalipoproteinemia/ homozygous familial hypobetalipoproteinemia (ABL/HoFHBL) is a severe form of familial hypobetalipoproteinemia characterized by permanently low levels (below the 5th percentile) of apolipoprotein B and LDL cholesterol, and by growth delay, malabsorption, hepatomegaly, and neurological and neuromuscular manifestations." "" + "intestinal disease due to fat malabsorption" "" + "hypobetalipoproteinemia" "Hypobetalipoproteinemia (HBL) constitutes a group of lipoprotein metabolism disorders that are characterized by permanently low levels (below the 5th percentile) of apolipoprotein B and LDL cholesterol." "" + "autosomal recessive metabolic cerebellar ataxia" "" + "constitutional hemolytic anemia due to acanthocytosis" "True" + "metabolic disease with pigmentary retinitis" "True" + "ablepharon macrostomia syndrome" "Ablepharon macrostomia syndrome is an extremely rare multiple congenital malformation syndrome characterized by the association of ablepharon, macrostomia, abnormal external ears, syndactyly of the hands and feet, skin findings (such as dry and coarse skin or redundant folds of skin), absent or sparse hair, genital malformations and developmental delay (in 2/3 of cases). Other reported manifestations include malar hypoplasia, absent or hypoplastic nipples, umbilical abnormalities and growth retardation. It is a mainly sporadic disorder, although a few familial cases having been reported, and it displays significant clinical overlap with Fraser syndrome." "" + "microblepharon-ablephara syndrome" "" + "pseudoprogeria syndrome" "Pseudoprogeria is characterised by intellectual deficit associated with progressive spastic quadriplegia, microcephaly, glaucoma, absence of the eyebrows and eyelashes, and a malformation of the nose. It has been described in two brothers." "" + "chorea-acanthocytosis" "Chorea-acanthocytosis (ChAc) is a form of neuroacanthocytosis and is characterized clinically by a Huntington disease-like phenotype with progressive neurological symptoms including movement disorders, psychiatric manifestations and cognitive disturbances." "" + "neuroacanthocytosis" "Neuroacanthocytosis (NA) syndromes are a group of genetic diseases characterized by the association of red blood cell acanthocytosis (deformed erythrocytes with spike-like protrusions) and progressive degeneration of the basal ganglia." "" + "acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome" "This syndrome is characterised by the association of acanthosis nigricans, insulin resistance, severe muscle cramps and acral hypertrophy." "" + "obsolete acetophenetidin sensitivity" "" "true" + "achalasia" "A finding indicating the lack of adequate relaxation of the lower esophageal sphincter resulting in difficulty swallowing food." "" + "idiopathic achalasia" "A primary esophageal motor disorder characterized by loss of esophageal peristalsis and insufficient lower esophageal sphincter (LES) relaxation in response to deglutition." "" + "achalasia microcephaly syndrome" "Achalasia-microcephaly is an extremely rare genetic syndrome, reported in a few families to date, characterized by the association of microcephaly, intellectual deficit and achalasia (with symptoms of coughing, dysphagia, vomiting, failure to thrive and aspiration appearing in infancy/early-childhood). Antenatal exposure to Mefloquine was reported in one simplex case. An autosomal recessive inheritance has been proposed." "" + "acheiropody" "Acheiropodia is an extremely rare developmental disorder characterized by bilateral, congenital and complete amputation of the distal extremities (amputation of distal epiphysis of the humerus, distal portion of the tibial diaphysis, aplasia of the radius, ulna, fibula) and aplasia of hands and feet (aplasia of carpal, metacarpal, tarsal, metatarsal and phalangeal bones). Rarely, an ectopic bone can be found at the distal end of the humerus. No other systemic manifestations have been reported and the disorder follows an autosomal recessive pattern of inheritance." "" + "non-syndromic terminal limb defects" "" + "achondrogenesis type IA" "Achondrogenesis type 1A (ACG1A), a form of achondrogenesis, is a very rare, lethal skeletal dysplasia characterized by dwarfism with extremely short limbs, narrow chest, short ribs that are easily fractured, soft skull bones and distinctive histological features of the cartilage." "" + "achondrogenesis" "Achondrogenesis describes a rare group of lethal skeletal dysplasias characterized by an endochondral ossification deficiency that leads to dwarfism with extreme micromelia, a small thorax, a prominent abdomen, anasarca and polyhydramnios. There are three types of achondrogenesis that exist and that differ clinically, radiologically, histologically and genetically: achondrogensis type 1a, type 1b and type 2." "" + "achondrogenesis type II" "Achondrogenesis type 2 (ACG2), a form of achondrogenesis, is a very rare and lethal skeletal dysplasia and part of the spectrum of type 2 collagen-related bone disorders, characterizedby severe micromelia, short neck with large head, small thorax, protuberant abdomen, underdeveloped lungs, distinctive facial features such as a prominent forehead, a small chin, a cleft palate (in some) and distinctive histological features of the cartilage." "" + "acromesomelic dysplasia, Grebe type" "Acromesomelic dysplasia, Grebe type is an autosomal recessively inherited form of acromesomelic dysplasia characterized by severe dwarfism at birth, abnormalities confined to limbs, severe shortening and deformity of long bones, fusion or absence of carpal and tarsal bones, ball shaped fingers and, occasionally, polydactyly and absent joints. As seen in acromesomelic dysplasia, Hunter-Thomson type and acromesomelic dysplasia, Maroteaux Type, facial features and intelligence are normal." "" + "short-limb skeletal dysplasia with severe combined immunodeficiency" "Short-limb skeletal dysplasia with severe combined immunodeficiency is an extremely rare type of SCID characterized by the classical signs of T-B- SCID (severe and recurrent infections, diarrhea, failure to thrive, absence of T and B lymphocytes), associated with skeletal anomalies like short stature, bowing of the long bones and metaphyseal abnormalities of variable degree of severity." "" + "lysosomal acid phosphatase deficiency" "" + "Ackerman syndrome" "Ackerman syndrome is characterized by pyramidal molar roots and taurodontism, associated with variable anomalies. It has been described in two generations of one family. Both parents and their six sibs had pyramidal, taurodont or fused molar roots. Some of the patients also had hypotrichosis, an abnormal upper lip, thickened and wide philtrum, and/or juvenile glaucoma. Other features included entropion of the eyelid, syndactyly and clinodactyly of the fifth fingers." "" + "acro-renal-mandibular syndrome" "Acro-renal-mandibular syndrome is a very rare multiple congenital anomalies syndrome characterized by limb deficiencies and renal anomalies that include split hand-split foot malformation, renal agenesis, polycystic kidneys, uterine anomalies and severe mandibular hypoplasia. An autosomal recessive mode of inheritance has been suggested." "" + "acrocallosal syndrome" "Acrocallosal syndrome (ACS) is a polymalformative syndrome characterized by agenesis of corpus callosum (CC), distal anomalies of limbs, minor craniofacial anomalies and intellectual deficit." "" + "acrocephalopolydactyly" "Acrocephalopolydactyly, also known as Elejalde syndrome, is an extremely rare lethal autosomal recessive disorder characterized by massive birth weight, swollen globular body, generalized edema, short limbs, postaxial polydactyly, thick skin, facial dysmorphism (slanted palpebral fissures, hypertelorism, epicanthic folds, dysplastic ears), excessive connective tissue, renal dysplasia, and in some patients, organomegaly, craniosynostosis with acrocephaly, omphalocele, cleft palate, and cryptorchidism. Fewer than 10 cases have been reported to date." "" + "RAB23-related Carpenter syndrome" "Any Carpenter syndrome in which the cause of the disease is a mutation in the RAB23 gene." "" + "Carpenter syndrome" "An extremely rare autosomal recessive syndrome characterized by premature closure of cranial sutures leading to cone-shaped head, fusion of the digits, and the presence of more digits than normal. It may be associated with heart defects, single horseshoe-shaped kidney, short stature, undescended testes, and mild mental retardation." "" + "Goodman syndrome" "Goodman syndrome is an extremely rare genetic disorder characterized by marked malformations of the head and face (essentially acrocephaly), abnormalities of the hands and feet (polydactyly, syndactyly, clinodactyly, camptodactyly, ulnar deviation), and congenital heart disease. There have been no further descriptions in the literature since 1979. Goodman syndrome could be a variant of Carpenter syndrome." "" + "acrocraniofacial dysostosis" "Acrocraniofacial dysostosis is a very rare form of acrofacial dyosotosis, reported in two sisters to date, characterized by short stature, acrocephaly, ocular hypertelorism, ptosis of eyelids, ocular proptosis, downslanting palpebral fissures, high nasal bridge, anteverted nostrils, short philtrum, cleft palate, micrognathia, abnormal external ears, preauricular pits, mixed hearing loss, bulbous digits, metatarsus varus, pectus excavatum and various radiological abnormalities. Features of this syndrome were reported to overlap with otopalatodigital syndrome types 1 and 2. There have been no further descriptions in the literature since 1988." "" + "acrodermatitis enteropathica" "Acrodermatitis enteropathica (AE) is a rare inherited inborn error of metabolism resulting in a severe zinc deficiency and characterized by acral dermatitis, alopecia, diarrhea and growth failure." "" + "disorder of zinc metabolism" "" + "acrofacial dysostosis Rodriguez type" "Acrofacial dysostosis Rodriguez type is a multiple malformative syndrome in which mandibulofacial dysostosis and severe limb reduction defects are associated with complex malformations of different organs and systems especially the CNS, urogenital tract, heart, and lungs. The mandibulofacial defect, characterized by extremely severe microretrognathism and cleft palate, causes death by respiratory distress. Limb reduction is severe and includes shoulder and pelvis hypoplasia, phocomelia with humerus hypoplasia, absent radius and ulna, complete absence of long bones of the legs, and various hand anomalies, predominantly preaxial reduction (absent thumbs). Other features include CNS malformations (agenesis of corpus callosum and acqueductal stenosis), lung anomalies (absent lung lobulation), complex cardiac malformations, and unicornis uterus. These infants also show facial dysmorphism and ear anomalies. The condition is a rare with an autosomal recessive mode of inheritance. The prognosis is poor and this condition leads to death in utero or shortly after birth." "" + "acrofrontofacionasal dysostosis" "A congenital malformation syndrome characterized by the association of facial and skeletal anomalies with severe intellectual deficit and occasional genitourinary anomalies." "" + "acrogeria" "A congenital skin condition characterized by premature aging, more especially in the form of unusually fragile, thin skin on the hands and feet. Its onset is in early childhood; it progresses over the next few years and then remains stable. A bruising tendency has been observed." "" + "acromesomelic dysplasia, Hunter-Thompson type" "Acromesomelic dysplasia, Hunter-Thomson type is an autosomal recessively inherited form of acromesomelic dysplasia characterized by severe dwarfism (adult height approximately 120 cm) with abnormalities limited to the limbs (affecting the lower limbs more than upper limbs, with middle and distal segments being the most affected), severe shortening, absence or fusion of tubular bones of hands and feet and large joint dislocations. As seen in acromesomelic dysplasia, Grebe type and acromesomelic dysplasia, Maroteaux type, facial features and intelligence are normal." "" + "Morvan syndrome" "Morvan syndrome is a rare, life-threatening, acquired neurologic disease characterized by neuromyotonia, dysautonomia and encephalopathy with severe insomnia. Signs involving central (e.g. hallucinations, confusion, amnesia, myoclonus), autonomic (e.g. variations in blood pressure, hyperhidrosis) and peripheral (e.g. painful cramps, myokymia) hyperactivity, as well as systemic manifestations (such as weight loss, pruritus, fever), are reported. Thymoma is present in some cases." "" + "acrorenal syndrome, autosomal recessive" "Autosomal recessive form of acrorenal syndrome." "" + "congenital isolated adrenocorticotropic hormone deficiency" "A hypopituitarrium that is characterized by a decreased or absent production of adrenocorticotropic hormone by the pituitary gland." "" + "non-acquired pituitary hormone deficiency" "" + "isolated congenital hypogonadotropic hypogonadism" "A congenital hypogonadotropic hypogonadism that is not part of a larger syndrome." "" + "medium chain acyl-CoA dehydrogenase deficiency" "Medium chain acyl-CoA dehydrogenase (MCAD) deficiency (MCADD) is an inborn error of mitochondrial fatty acid oxidation characterized by a rapidly progressive metabolic crisis, often presenting as hypoketotic hypoglycemia, lethargy, vomiting, seizures and coma, which can be fatal in the absence of emergency medical intervention." "" + "acyl-CoA dehydrogenase deficiency" "" + "short chain acyl-CoA dehydrogenase deficiency" "Short-chain acyl-CoA dehydrogenase (SCAD) deficiency is a very rare inborn error of mitochondrial fatty acid oxidation characterized by variable manifestations ranging from asymptomatic individuals (in most cases) to those with failure to thrive, hypotonia, seizures, developmental delay and progressive myopathy." "" + "very long chain acyl-CoA dehydrogenase deficiency" "Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency (VLCADD) is an inherited disorder of mitochondrial long-chain fatty acid oxidation with a variable presentation including: cardiomyopathy, hypoketotic hypoglycemia, liver disease, exercise intolerance and rhabdomyolysis." "" + "long chain acyl-CoA dehydrogenase deficiency" "A genetic disorder characterized by deficiency of the enzyme long-chain acyl-coenzyme A dehydrogenase that metabolizes long-chain fatty acids. Signs and symptoms appear in infancy or childhood and may be triggered during fasting, illness or exercise. They include hypoglycemia, muscle weakness and lethargy." "" + "adducted thumbs-arthrogryposis syndrome, Christian type" "A type of arthrogryposis characterized by congenital cleft palate, microcephaly, craniostenosis and arthrogryposis (limitation of extension of elbows, flexed adducted thumbs, camptodactyly and clubfeet). Additional features include facial dysmorphism (\"myopathic\" stiff face, antimongoloid slanting, external ophthalmoplegia, telecanthus, low-set large malrotated ears, open mouth, mierogenia and high arched palate). Velopharyngeal insufficiency with difficulties in swallowing, increased secretion of the nose and throat, prominent occiput, generalized muscular hypotonia with mild cyanosis and no spontaneous movements, seizures, torticollis, areflexia, intellectual disability, hypertrichosis of the lower extremities, and scleredema (in the first days of life) are also observed. The disease often leads to early death. Transmission is autosomal recessive. No new cases of adducted thumbs-arthrogryposis, Christian type have been described since 1983." "" + "congenital lipoid adrenal hyperplasia due to STAR deficency" "Congenital lipoid adrenal hyperplasia (CLAH) is one of the most severe forms of congenital adrenal hyperplasia (CAH) characterized by severe adrenal insufficiency and sex reversal in males." "" + "congenital adrenal hyperplasia" "Congenital adrenal hyperplasia (CAH) is an inherited endocrine disorder caused by a steroidogenic enzyme deficiency that is characterized by adrenal insufficiency and variable degrees of hyper or hypo androgeny manifestations, depending of the type and the severity of the disease." "" + "46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect" "True" + "female infertility" "Diminished or absent ability of a female to achieve conception." "" + "Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis" "" + "Antley-Bixler syndrome" "Antley-Bixler syndrome is a very rare disorder characterised by craniosynostosis with midface hypoplasia, radiohumeral synostosis, femoral bowing and joint contractures." "" + "congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency" "Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency is a very rare form of congenital adrenal hyperplasia (CAH) encompassing salt-wasting and non-salt wasting forms with a wide variety of symptoms, including glucocorticoid deficiency and male undervirilization manifesting as a micropenis to severe perineoscrotal hypospadias." "" + "46,XX disorder of sex development induced by fetal androgens excess" "" + "classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency" "Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classic 21-OHD CAH) is the most common form of congenital adrenal hyperplasia (CAH), characterized by simple virilizing or salt wasting forms that can manifest with genital ambiguity in females and with adrenal insufficiency (in both sexes), and that presents with dehydration, hypoglycemia in the neonatal period (that can be lethal if untreated), and hyperandrogenia." "" + "congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency" "Congenital adrenal hyperplasia due to 11 beta-hydroxylase (CYP11B1) deficiency is a rare form of congenital adrenal hyperplasia (CAH) characterized by glucocorticoid deficiency, hyperandrogenism, hypertension and virilization in females." "" + "congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency" "A very rare form of congenital adrenal hyperplasia (CAH) characterized by glucocorticoid deficiency, hypergonadotrophic hypogonadism and severe hypokalemic hypertension." "" + "familial adrenal hypoplasia with absent pituitary luteinizing hormone" "" + "chronic primary adrenal insufficiency" "A chronic disorder of the adrenal cortex resulting in the inadequate production of glucocorticoid and mineralocorticoid hormones." "" + "adrenal hypoplasia, cytomegalic type" "" + "X-linked adrenal hypoplasia congenita" "A X-linked condition characterized by underdevelopment of the adrenal gland and adrenal insufficiency caused by mutation(s) in the NR0B1 gene, resulting in decreased activity of the nuclear receptor protein DAX1, which may be associated with hypogonadotropic hypogonadism." "" + "familial glucocorticoid deficiency" "Familial glucocorticoid deficiency (FGD) is a group of primary adrenal insufficiencies characterized clinically by neonatal hyperpigmentation, hypoglycemia, failure to thrive, and recurrent infections, and biochemically by glucocorticoid deficiency without mineralocorticoid deficiency." "" + "adrenocortical carcinoma, hereditary" "An instance of adrenal cortex carcinoma that is caused by an inherited modification of the individual's genome." "" + "adrenocortical unresponsiveness to ACTH with postreceptor defect" "" + "peroxisome biogenesis disorder 2B" "" + "peroxisome biogenesis disorder due to PEX5 defect" "Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX5 gene." "" + "non-classic presentation" "A mild or intermediate form of a genetic disease." "" + "peroxisome biogenesis disorder" "Peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS) is a group of autosomal recessive disorders affecting the formation of functional peroxisomes, characterized by sensorineural hearing loss, pigmentary retinal degeneration, multiple organ dysfunction and psychomotor impairment, and is comprised of the phenotypic variants Zellweger syndrome (ZS), neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD)." "" + "congenital afibrinogenemia" "Familial afibrinogenemia is a coagulation disorder characterized by bleeding symptoms due to a complete absence of circulating fibrinogen." "" + "familial dysfibrinogenemia" "Familial dysfibrinogenemia is a coagulation disorder characterized by a bleeding tendency due to a functional anomaly of circulating fibrinogen." "" + "aganglionosis, total intestinal" "A complete lack of ganglia in the intestine. This is an extremely severe form of aganglionosis distinct from Hirschsprung Disease. This is an n-of-1 use case where only one patient or family has been described with this disorder." "" + "agenesis of cerebral white matter" "" + "agnathia-otocephaly complex" "Agnathia-holoprosencephaly-situs inversus syndrome is an extremely rare and fatal association syndrome, characterized by absence of the mandible, cerebral malformations with facial anomalies related to a defect in cleavage in the embryonic brain (e.g. synophthalmia, malformed and low-set ears fused in midline (otocephaly), agenesis of the olfactory bulbs, microstomia, hypoglossia/aglossia) and situs inversus partialis or totalis." "" + "PAGOD syndrome" "PAGOD syndrome is a severe developmental syndrome characterized by multiple congenital anomalies including cardiovascular defects, pulmonary hypoplasia, diaphragmatic defects and genital anomalies." "" + "autosomal dominant severe congenital neutropenia" "Autosomal dominant form of severe congenital neutropenia." "" + "severe congenital neutropenia" "" + "Stimmler syndrome" "Stimmler syndrome is characterised by the association of microcephaly, low birth weight and severe intellectual deficit with dwarfism, small teeth and diabetes mellitus. Two cases have been described. Biochemical tests reveal the presence of high levels of alanine in the urine and elevated alanine, pyruvate and lactate levels in the blood." "" + "alar cartilages hypoplasia-coloboma-telecanthus syndrome" "Alar cartilages hypoplasia- coloboma- telecanthus is a very rare dysmorphic disorder characterized by hypoplasia and coloboma of the alar cartilages and telecanthus described in 2 sisters. No new cases with similar features have been reported since 1976." "" + "oculocutaneous albinism type 1A" "Oculocutaneous albinism type 1A (OCA1A) is the most severe form of OCA, where no melanin is produced, and is characterized by white hair and skin, blue, fully translucent irises, nystagmus and misrouting of the optic nerves." "" + "oculocutaneous albinism" "Oculocutaneous albinism (OCA) describes a group of inherited disorders of melanin biosynthesis characterized by a generalized reduction in pigmentation of hair, skin and eyes and variable ocular findings including nystagmus, reduced visual acuity and photophobia. Variants include OCA1A (the most severe form), OCA1B, OCA1-minimal pigment (OCA1-MP), OCA1-temperature sensitive (OCA1-TS), OCA2, OCA3, OCA4, OCA5, OCA6 and OCA7." "" + "oculocutaneous albinism type 1" "Type 1 oculocutaneous albinism (OCA1) describes a group of tyrosine related OCAs that includes OCA1A, OCA1B, type 1 minimal pigment oculocutaneous albinism (OCA1-MP) and type 1 temperature sensitive oculocutaneous albinism (OCA1-TS)." "" + "autosomal recessive ocular albinism" "Autosomal recessive form of ocular albinism (disease)." "" + "oculocutaneous albinism type 2" "Oculocutaneous albinism type 2 (OCA2) is a type of OCA and the most common form of OCA seen in the African population, characterized by variable hypopigmentation of the skin and hair, numerous characteristic ocular changes and misrouting of the optic nerves at the chiasm." "" + "oculocutaneous albinism type 3" "Type 3 oculocutaneous albinism (OCA3) is a form of oculocutaneous albinism (OCA) characterized by rufous or brown albinism and occurring mainly in the African population." "" + "Hermansky-Pudlak syndrome 1" "Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the HPS1 gene." "" + "Hermansky-Pudlak syndrome" "Hermansky-Pudlak syndrome (HSP) is a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and, in some cases, neutropenia, pulmonary fibrosis, or granulomatous colitis. HPS comprises eight known disorders (HPS-1 to HPS-8), the majority of which present with the same clinical phenotype to varying degrees of severity." "" + "Hermansky-Pudlak syndrome with pulmonary fibrosis" "Hermansky-Pudlak syndrome with pulmonary fibrosis as a complication includes two types (HPS-1 and HPS-4) of Hermansky-Pudlak syndrome (HPS), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and, in some cases, pulmonary fibrosis or granulomatous colitis." "" + "pseudohypoparathyroidism type 2" "Pseudohypoparathyroidism type 2 (PHP2) is a type of pseudohypoparathyroidism (PHP) characterized by resistance to parathyroid hormone (PTH), which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, absence of Albright's hereditary osteodystrophy (AHO), and normal expression of the Gs protein with a normal urinary cAMP response." "" + "microcephaly-albinism-digital anomalies syndrome" "Microcephaly - albinism - digital anomalies syndrome is a very rare syndrome associating microcephaly, micrognathia, oculocutaneous albinism, hypoplasia of the distal phalanx of fingers and agenesia of the distal end of the right big toe." "" + "corticosterone methyloxidase type 1 deficiency" "" + "familial hyperreninemic hypoaldosteronism type 1" "" + "steroid metabolism disease" "A disease that has its basis in the disruption of steroid metabolic process." "" + "Alexander disease" "Alexander disease (AxD) is a rare neurodegenerative disorder of the astrocytes comprised of two clinical forms: AxD Type I and Type II manifesting with various degrees of macrocephaly, spasticity, ataxia and seizures and leading to psychomotor regression and death." "" + "alkaptonuria" "Alkaptonuria is a metabolic disease characterized by the accumulation of homogentisic acid (HGA) and its oxidized product, benzoquinone acetic acid (BQA), in various tissues (e.g. cartilage, connective tissue) and body fluids (urine, sweat), causing urine to darken when exposed to air as well as grey-blue coloration of the sclera and ear helix (ochronosis), and a disabling joint disease involving both the axial and peripheral joints (ochronotic arthropathy)." "" + "alopecia - contractures - dwarfism - intellectual disability syndrome" "Alopecia-contractures-dwarfism-intellectual disability syndrome (ACD syndrome) is a form of ectodermal dysplasia syndrome characterized by a short stature of prenatal onset, alopecia, ichthyosis, photophobia, ectrodactyly, seizures, scoliosis, multiple contractures, fusions of various bones (particularly elbows, carpals, metacarpals, and spine), intellectual disability, and facial dysmorphism (microdolichocephaly, madarosis, large ears and long nose). ACD syndrome overlaps with ichthyosis follicularis-alopecia-photophobia syndrome." "" + "Moynahan syndrome" "" + "alopecia - intellectual disability syndrome" "Alopecia-intellectual deficit syndrome is an extremely rare syndrome described in less than 20 families to date and characterized by total or partial alopecia associated with intellectual deficit. The syndrome can be associated with other anomalies such as seizures, sensorineural hearing loss, delayed psychomotor development, and/or hypertonia." "" + "alopecia universalis congenita" "The most severe form of alopecia areata, an inflammatory disease of the hair follicle, which is characterized by a complete loss of hair of the scalp and all the hair-bearing areas of the body." "" + "mitochondrial DNA depletion syndrome 4a" "Alpers Huttenlocher syndrome (AHS) is a cerebrohepatopathy and a rare and severe form of mitochondrial DNA (mtDNA) depletion syndrome characterized by the triad of progressive developmental regression, intractable seizures, and hepatic failure." "" + "mitochondrial disease with epilepsy" "True" + "mitochondrial disease with peripheral neuropathy" "True" + "mitochondrial DNA depletion syndrome, hepatocerebral form" "" + "oxoglutaricaciduria" "Oxoglutaric aciduria is a very rare tricarboxylic acid cycle disorder, resulting from a deficiency in alpha-ketoglutarate dehydrogenase (one of the three subunits of the alpha-ketoglutarate dehydrogenase complex), that most often presents in the neonatal period with hypotonia, severe encephalopathy, extrapyramidal signs, pyramidal tract dysfunction and seizures and that frequently results in death in early childhood. Metabolic acidosis, elevated lactate and glutamate levels and variable degrees of glutaric aciduria are noted. Sudden death, myocardiopathy, and hepatic disorders have also been reported in some cases." "" + "tricarboxylic acid cycle disorder" "An acquired metabolic disease that is has its basis in the disruption of tricarboxylic acid cycle." "" + "beta-ketothiolase deficiency" "Beta-ketothiolase (T2) deficiency is a rare organic aciduria affecting ketone body metabolism and the catabolism of isoleucine and characterized by intermittent ketoacidotic episodes associated with vomiting, dyspnea, tachypnoea, hypotonia, lethargy and coma, with an onset during infancy or toddlerhood and usually ceasing by adolescence." "" + "classic organic aciduria" "" + "inborn disorder of ketolysis" "An acquired metabolic disease that is has its basis in the disruption of ketone body catabolic process." "" + "obsolete alpha-2-deficient collagen disease" "" "true" + "autosomal recessive Alport syndrome" "Autosomal recessive Alport syndrome isa genetic condition characterized by kidney disease, hearing loss, and eye abnormalities. Most affected individuals experience progressive loss of kidney function, usually resulting in end-stage kidney disease. People with Alport syndrome frequently develop sensorineural hearing loss in late childhood or early adolescence. The eye abnormalities seen in this condition seldom lead to vision loss. Alport syndrome can have different patterns of inheritance. About15 percentof Alport syndrome cases are inherited in an autosomal recessive pattern and are caused bymutations in both copies of the COL4A3 or COL4A4 genes. Treatment is based on the symptoms present and may include medications to delay the progression of kidney disease. In most cases, a kidney transplant is eventually needed." "" + "Alstrom syndrome" "A multisystemic disorder characterized by cone-rod dystrophy, hearing loss, obesity, insulin resistance and hyperinsulinemia, type 2 diabetes mellitus, dilated cardiomyopathy (DCM), and progressive hepatic and renal dysfunction." "" + "inherited renal tubular disease" "" + "syndrome associated with dilated cardiomyopathy" "True" + "Leber congenital amaurosis 1" "Any Leber congenital amaurosis in which the cause of the disease is a mutation in the GUCY2D gene." "" + "recessive GUCY2D retinopathy" "A retinopathy caused by biallelic variants in the GUCY2D gene." "" + "Leber congenital amaurosis 2" "Any Leber congenital amaurosis in which the cause of the disease is a mutation in the RPE65 gene." "" + "recessive RPE65 retinopathy" "A retinopathy, which may include conditions described as retinitis pigmentosa and Leber congenital amaurosis, caused by biallelic variants in the RPE65 gene." "" + "amaurosis-hypertrichosis syndrome" "Amaurosis hypertrichosis is characterised by severe retinal dystrophy marked by visual impairment and profound photophobia without night blindness. Eye examination suggested a cone-rod type of congenital amaurosis. Trichomegaly, bushy eyebrows with synophyrys, and excessive facial and body hair were also reported. The syndrome has been described in two female cousins both born to consanguineous parents." "" + "neuronal ceroid lipofuscinosis 3" "A condition associated with mutation(s) in the CLN3 gene, encoding battenin. The condition is one of a group of genetically heterogeneous neurodegenerative disorders, characterized by accumulation of intracellular lipopigments." "" + "neuronal ceroid lipofuscinosis" "A group of inherited progressive degenerative brain diseases characterized clinically by a decline of mental and other capacities, epilepsy, and vision loss through retinal degeneration, and histopathologically by intracellular accumulation of an autofluorescent material, ceroid lipofuscin, in the neuronal cells in the brain and in the retina." "" + "juvenile neuronal ceroid lipofuscinosis" "A genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs) typically characterized by onset at early school age with vision loss due to retinopathy, seizures and the decline of mental and motor capacities." "" + "ceroid lipofuscinosis, neuronal, 6B (Kufs type)" "Any neuronal ceroid lipofuscinosis in which the cause of the disease is a mutation in the CLN6 gene." "" + "neuronal ceroid lipofuscinosis 2" "A condition associated with mutation(s) in the TPP1 gene, encoding tripeptidyl-peptidase- 1. The condition is one of a group of genetically heterogeneous neurodegenerative disorders, characterized by accumulation of intracellular lipopigments." "" + "late infantile neuronal ceroid lipofuscinosis" "A genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs) typically characterized by onset during infancy or early childhood with decline of mental and motor capacities, epilepsy, and vision loss through retinal degeneration." "" + "amelogenesis imperfecta type 1C" "" + "amelogenesis imperfecta type 1G" "An extremely rare syndrome which is characterized by hypoplastic amelogenesis imperfecta (hypoplastic dental enamel) and nephrocalcinosis (precipitation of calcium salts in renal tissue). Oral manifestations include yellow and misshaped teeth, delayed tooth eruption, and intrapulpal calcifications. Nephrocalcinosis is often asymptomatic but can progress during late childhood or early adulthood to impaired renal function (e.g. recurrent urinary infections and renal tubular acidosis), and rarely to end-stage renal failure." "" + "amelogenesis imperfecta type 2A1" "Any amelogenesis imperfecta in which the cause of the disease is a mutation in the KLK4 gene." "" + "amelogenesis imperfecta type 2" "" + "amino aciduria with mental deficiency, dwarfism, muscular dystrophy, osteoporosis, and acidosis" "" + "2-aminoadipic 2-oxoadipic aciduria" "" + "inborn disorder of lysine and hydroxylysine metabolism" "" + "Amobarbital, deficient N-hydroxylation of" "" + "amyloidosis of gingiva and conjunctiva, with intellectual disability" "" + "gelatinous drop-like corneal dystrophy" "Gelatinous drop-like corneal dystrophy (GDCD) is a form of superficial corneal dystrophy characterized by multiple prominent milky-white gelatinous nodules beneath the corneal epithelium, and marked visual impairment." "" + "amyloidosis, cutaneous bullous" "" + "amyotrophic lateral sclerosis type 2, juvenile" "Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the ALS2 gene." "" + "juvenile amyotrophic lateral sclerosis" "Juvenile amyotrophic lateral sclerosis (JALS) is a very rare severe motor neuron disease characterized by progressive upper and lower motor neuron degeneration causing facial spasticity, dysarthria, and gait disorders with onset before 25 years of age." "" + "juvenile amyotrophic lateral sclerosis with dementia" "A juvenile amyotrophic lateral sclerosis that is slowly progressive with concomitantly progressive dementia." "" + "amyotrophic lateral sclerosis with polyglucosan bodies" "" + "Tangier disease" "Tangier disease (TD) is a rare lipoprotein metabolism disorder characterized biochemically by an almost complete absence of plasma high-density lipoproteins (HDL), and clinically by liver, spleen, lymph node and tonsil enlargement along with peripheral neuropathy in children and adolescents, and, occasionally, cardiovascular disease in adults." "" + "hypoalphalipoproteinemia" "A metabolic disorder characterized by deficiency of high density (alpha) lipoprotein in the blood." "" + "obsolete autoimmune hemolytic anemia" "" "true" + "sideroblastic anemia 2" "" + "autosomal recessive sideroblastic anemia" "Congenital autosomal recessive sideroblastic anemia (ARSA) is a non-syndromic, microcytic/hypochromic sideroblastic anemia, present from early infancy and characterized by severe microcytic anemia, which is not pyridoxine responsive, and increased serum ferritin." "" + "pyridoxine-responsive sideroblastic anemia" "" + "microcytic anemia with liver iron overload" "Congenital hypochromic microcytic anemia with progressive liver iron overload paradoxically associated with normal to moderately elevated serum ferritin levels has been described in three unrelated patients." "" + "constitutional anemia due to iron metabolism disorder" "True" + "IRIDA syndrome" "IRIDA (Iron-refractory iron deficiency anemia) syndrome is a rare autosomal recessive iron metabolism disorder characterized by iron deficiency anemia (hypochromic, microcytic) that is often unresponsive to oral iron intake and partially responsive to parenteral iron treatment." "" + "anemia, nonspherocytic hemolytic, associated with abnormality of red cell membrane" "" + "anemia, nonspherocytic hemolytic, possibly due to defect in porphyrin metabolism" "" + "isolated anencephaly/exencephaly" "Anencephaly is a neural tube defect. This malformation is characterized by the total or partial absence of the cranial vault and the covering skin, the brain being missing or reduced to a small mass. Most cases are stillborn, although some infants have been reported to survive for a few hours or even a few days." "True" + "familial angiolipomatosis" "Familial angiolipomatosis is a rare, genetic, subcutaneous tissue disorder characterized by the presence of benign, usually multiple, subcutaneous tumors composed of adipose tissue and blood vessels, typically manifesting as yellow, firm, circumscribed, 1-4 cm in diameter tumors located in the arms, legs and trunk, with deep extension of the lesions between muscles, tendons and joint capsules (without infiltration of these structures), in several members of a single family. Tumors may be tender or mildly painful when palpated and do not regress spontaneously." "" + "angiomatosis, diffuse Corticomeningeal, of Divry and van Bogaert" "" + "anhidrosis, familial generalized, with abnormal or absent sweat glands" "" + "aniridia-cerebellar ataxia-intellectual disability syndrome" "Aniridia-cerebellar ataxia-intellectual disability syndrome, also known as Gillespie syndrome, is a rare, congenital, neurological disorder characterized by the association of partial bilateral aniridia with non-progressive cerebellar ataxia, and intellectual disability." "" + "aniridia-renal agenesis-psychomotor retardation syndrome" "Aniridia - renal agenesis - psychomotor retardation is an extremely rare syndrome reported in two siblings of non consanguineous parents that is characterized by the association of ocular abnormalities (partial aniridia, congenital glaucoma, telecanthus) with frontal bossing, hypertelorism, unilateral renal agenesis and mild psychomotor delay. There have been no further descriptions in the literature since 1974." "" + "anodontia" "Anodontia is an extreme developmental dental anomaly characterized by the complete absence of all teeth." "" + "nonsyndromic congenital nail disorder 4" "Any isolated congenital anonychia in which the cause of the disease is a mutation in the RSPO4 gene." "" + "anophthalmia/microphthalmia-esophageal atresia syndrome" "Anophthalmia-esophageal atresia syndrome belongs to the group of syndromic microphthalmias and is characterized by the association of uni- or bilateral anophthalmia or microphthalmia, and esophageal atresia with or without trachoesophageal fistula." "" + "syndromic microphthalmia" "A microphthalmia that is part of a larger syndrome." "" + "microphthalmia with limb anomalies" "Microphthalmia with limb anomalies, also known as ophthalmo-acromelic syndrome (OAS), is a rare developmental disorder characterized by bilateral microphthalmia or anophthalmia, synostosis, syndactyly, oligodactyly and/or polydactyly." "" + "anosmia for isobutyric acid" "" + "antithrombin, familial hemorrhagic diathesis due to" "" + "craniosynostosis syndrome, autosomal recessive" "Autosomal recessive form of craniosynostosis." "" + "obsolete anus, imperforate" "" "true" + "obsolete Takayasu's arteritis" "" "true" + "Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome" "Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis is an extremely rare congenital limb malformation syndrome, described in only 3 patients to date, and characterized by the association of hypoplasia or aplasia of the hand and foot phalanges, hemivertebrae and various urogenital and/or intestinal abnormalities (i.e. dysgenesis of the urogenital tract and rectum). There have been no further descriptions in the literature since 1991." "" + "apnea, central sleep" "" + "aplasia cutis congenita-intestinal lymphangiectasia syndrome" "Aplasia cutis congenita - intestinal lymphangiectasia is an extremely rare association syndrome, described in only two brothers to date (one of which died at 2 months of age), characterized by aplasia cutis congenita of the vertex and generalized edema (as well as hypoproteinemia and lymphopenia) due to intestinal lymphangiectasia. There have been no further descriptions in the literature since 1985." "" + "primary lymphedema" "A congenital condition that results in swelling in the arms or legs, and can occur during adolescence or adulthood. Loss of motion and pain may also accompany the swelling. Protein-rich lymphatic fluid accumulates in tissues, engorging and enlarging vessels and often causing visible swelling, tenderness, and pain. Left untreated, the affected tissues may continue to swell, and can become hardened or fibrotic and susceptible to infection." "" + "polyneuropathy-hand defect syndrome" "Digital extensor muscle aplasia-polyneuropathy is a rare, hereditary motor and sensory neuropathy characterized by flexion deformities of the thumb and fingers, sensory deficit in the hand and polyneuropathic electrophysiologic findings in the limbs. Operation on the hands reveals extensor muscles and their tendons to be absent or hypoplastic. There have been no further descriptions in the literature since 1986." "" + "hereditary motor and sensory neuropathy" "A group of slowly progressive inherited disorders affecting motor and sensory peripheral nerves. Subtypes include HMSNs I-VII. HMSN I and II both refer to CHARCOT-MARIE-Tooth DISEASE. HMSN III refers to hypertrophic neuropathy of infancy. HMSN IV refers to REFSUM DISEASE. HMSN V refers to a condition marked by a hereditary motor and sensory neuropathy associated with spastic paraplegia (see SPASTIC PARAPLEGIA, HEREDITARY). HMSN VI refers to HMSN associated with an inherited optic atrophy (OPTIC ATROPHIES, HEREDITARY), and HMSN VII refers to HMSN associated with retinitis pigmentosa. (From Adams et al., Principles of Neurology, 6th ed, p1343)" "" + "hereditary sensory and autonomic neuropathy" "An instance of sensory peripheral neuropathy that is caused by an inherited modification of the individual's genome." "" + "familial apolipoprotein C-II deficiency" "" + "XK aprosencephaly" "XK aprosencephaly is a very rare syndromic type of cerebral malformation characterized by aprosencephaly (absence of telencephalon and diencephalon), oculo-facial anomalies (i.e. ocular hypotelorism or cyclopia, malformation/absence of nasal structures, cleft lip), preaxial limb defects (i.e. hypoplastic hands, absent halluces) and various other anomalies including ambiguous genitalia, imperforate anus, and vertebral anomalies. The syndrome is thought to have an autosomal recessive mode of inheritance." "" + "syndrome with a cerebellar malformation as major feature" "True" + "AREDYLD syndrome" "AREDYLD stands for acral-renal-ectodermal-dysplasia-lipoatrophic-diabetes. This syndrome has been described in three individuals, one of whom was born to consanguineous parents. All patients had lipoatrophy, diabetes mellitus, generalized hypotrichosis, ectodermal dysplasia, renal alterations, dental abnormalities and other manifestations. It is probably transmitted as an autosomal recessive trait." "" + "central nervous system cystic malformation" "" + "pituitary hormone deficiency from meningeal origin" "" + "obsolete rare genetic developmental defect during embryogenesis" "True" "true" + "hyperargininemia" "Arginase deficiency is a rare autosomal recessive amino acid metabolism disorder characterized clinically by variable degrees of hyperammonemia, developing from about 3 years of age, and leading to progressive loss of developmental milestones and spasticity in the absence of treatment." "" + "argininosuccinic aciduria" "Argininosuccinic aciduria (ASA) is a disorder of urea cycle metabolism most commonly characterized by either a severe, neonatal-onset form that manifests with hyperammonemia accompanied with vomiting, hypothermia, lethargy and poor feeding in the first few days of life, or late-onset forms (any age outside the newborn period) that manifest with stress or infection-induced episodic hyperammonemia or, in some, behavioral abnormalities and/or learning disabilities. Patients often manifest liver dysfunction." "" + "Chiari malformation type II" "Arnold-Chiari malformation type II is a rare, central nervous system malformation characterized by caudal displacement of the cerebellum, pons, medulla and fourth ventricle through the foramen magnum into the spinal canal, and is typically associated with myelomeningocele. Variable other central nervous system abnormalities might be present (partial or complete agenesis of the corpus callosum, a small fourth ventricle, obstructive hydrocephalus, falx and tentorium defects, and polygyria). Symptoms include hypotonia, apnea with cyanosis, dysphagia, opisthotonus, nystagmus, spasticity, ataxia, and occipital headache." "" + "spina bifida cystica" "A congenital abnormality in which the spinal cord and meninges protrude through a defect in the spinal column. The protrusion is above the skin surface." "" + "arterial calcification, generalized, of infancy, 1" "An autosomal recessive genetic disorder caused by mutations in the ENPP1 gene, encoding ectonucleotide pyrophosphatase/phosphodiesterase family member 1. The condition is characterized by calcification and narrowing of medium- and large-sized arteries, resulting in cardiovascular complications." "" + "arterial calcification of infancy" "Idiopathic arterial calcification of infancy is a rare condition characterized by extensive calcification and stenosis of the large and medium sized arteries." "" + "arterial tortuosity syndrome" "Arterial tortuosity syndrome (ATS) is a rare connective tissue disorder characterized by tortuosity and elongation of the large and medium-sized arteries and a propensity towards aneurysm formation, vascular dissection, and stenosis of the pulmonary arteries." "" + "arteriosclerosis, severe juvenile" "" + "obsolete arthrogryposis, distal, with hypopituitarism, intellectual disability, and facial anomalies" "" "true" + "arthrogryposis, distal, with intellectual disability and characteristic facies" "" + "arthrogryposis, renal dysfunction, and cholestasis 1" "Any arthrogryposis-renal dysfunction-cholestasis syndrome in which the cause of the disease is a mutation in the VPS33B gene." "" + "arthrogryposis-renal dysfunction-cholestasis syndrome" "Arthrogryposis-Renal dysfunction-Cholestasis (ARC) syndrome is a multisystem disorder, characterized by neurogenic arthrogryposis multiplex congenita, renal tubular dysfunction and neonatal cholestasis with low serum gamma-glutamyl transferase activity." "" + "arthrogryposis multiplex congenita 2, neurogenic type" "Neurogenic arthrogryposis multiplex congenita is a form of arthrogryposis multiplex congenita characterized by congenital immobility of the limbs with fixation of multiple joints and muscle wasting. This condition is secondary to neurogenic muscular atrophy." "" + "fetal akinesia deformation sequence" "Fetal akinesia deformation sequence (FADS) is a condition characterized by decreased fetal movement (fetal akinesia) as well as intra-uterine growth restriction (IUGR), multiple joint contractures (arthrogryposis), facial anomalies, underdevelopment of the lungs (pulmonary hypoplasia) and other developmental abnormalities. It is generally accepted that this condition is not a true diagnosis or a specific syndrome, but rather a description of a group of abnormalities resulting from fetal akinesia. About 30% of affected individuals are stillborn; many liveborn infants survive only a short time due to complications of pulmonary hypoplasia. FADS may be inherited in an autosomal recessive manner in some cases and may sometimes be caused by mutations in the RAPSN or DOK7 genes." "" + "syndromic respiratory or mediastinal malformation" "A respiratory or mediastinal malformation that is part of a larger syndrome." "" + "arthrogryposis multiplex congenita-whistling face syndrome" "Arthrogryposis multiplex congenita-whistling face syndrome is an extremely rare type of arthrogryposis multiplex congenita characterized by the combination of multiple joint contractures with movement limitation, microstomia with a whistling appearance of the mouth that may cause feeding, swallowing, and speech difficulties, a distinctive expressionless facies, severe developmental delay, central and autonomous nervous system dysfunction (excessive salivation, temperature instability, myoclonic epileptic fits, bradycardia), occasionally Pierre-Robin sequence, and lethality generally occurring during the first months of life. Arthrogryposis multiplex congenita-whistling face syndrome has been suggested to be a fetal akinesia deformation sequence." "" + "arthrogryposis-hyperkeratosis syndrome, lethal form" "Arthrogryposis-hyperkeratosis syndrome, lethal form is an arthrogryposis syndrome, described in two siblings to date, characterized by the association of multiple congenital joint contractures (of the large joints, fingers and toes) and hyperkeratosis (i.e. thick, scaling and fissured skin), with death occurring in early infancy. There have been no further reports in the literature since 1993." "" + "progressive pseudorheumatoid arthropathy of childhood" "Progressive pseudorheumatoid arthropathy (dysplasia) of childhood (PPAC; PPD) presents as spondyloepiphyseal dysplasia (SED) tarda with progressive arthropathy and is described as a specific autosomal recessive subtype of SED." "" + "camptodactyly-arthropathy-coxa vara-pericarditis syndrome" "Camptodactyly-arthropathy-coxa-vara-pericarditis (CACP) syndrome is a rare, genetic, rheumatologic disease characterized by congenital or early-onset camptodactyly and symmetrical, polyarticular, non-inflammatory, large joint arthropathy with synovial hyperplasia, as well as progressive coxa vara deformity and, occasionally, non-inflammatory pericarditis." "" + "chylous ascites" "Chylous ascites is a rare form of ascites caused by accumulation of lymph in the peritoneal cavity, usually due to intra-abdominal malignancy, liver cirrhosis or abdominal surgery complications, and present with painless but progressive abdominal distension, dyspnea and weight gain." "" + "aspartylglucosaminuria" "Aspartylglycosaminuria (AGU) is an autosomal recessive lysosomal storage disease belonging to the oligosaccharidosis group (also called glycoproteinosis)." "" + "lysosomal disease with epilepsy" "True" + "oligosaccharidosis" "" + "asphyxiating thoracic dystrophy 1" "An asphyxiating thoracic dystrophy associated with variation in the region 15q13." "" + "Jeune syndrome" "Jeune syndrome, also called asphyxiating thoracic dystrophy, is a short-rib dysplasia characterized by a narrow thorax, short limbs and radiological skeletal abnormalities including \"trident\" aspect of the acetabula and metaphyseal changes." "" + "right atrial isomerism" "A visceral heterotaxy characterized by complete atrioventricular septal defect with a common atrium and univentricular AV connection, total anomalous pulmonary drainage, and transposition or malposition of the great arteries and may be associated with bilateral trilobed lungs, midline liver, asplenia and situs inversus affecting other organs that has material basis in homozygous mutation in the GDF1 gene on chromosome 19p12." "" + "visceral heterotaxy" "A rare, genetic disorder in which symptoms are generally secondary to the abnormal location of the organs within the thoracic, abdominal, or peritoneal cavities. Anatomic and functional problems can include cardiac defects, intestinal malrotation leading to volvulus, biliary atresia, and various defects of the central nervous system, urinary tract, and skeleton." "" + "renal-hepatic-pancreatic dysplasia 1" "Any renal-hepatic-pancreatic dysplasia in which the cause of the disease is a mutation in the NPHP3 gene." "" + "renal-hepatic-pancreatic dysplasia" "Renal-hepatic-pancreatic dysplasia is a rare, genetic, developmental defect during embryogenesis syndrome characterized by the triad of pancreatic fibrosis (and cysts, with a reduction of parenchymal tissue), renal dysplasia (with peripheral cortical cysts, primitive collecting ducts, glomerular cysts and metaplastic cartilage) and hepatic dysgenesis (enlarged portal areas containing numerous elongated binary profiles with a tendancy to perilobular fibrosis). Situs abnormalities, skeletal anomalies and anencephaly have also been associated. Patients that survive the neonatal period present renal insufficiency, chronic jaundice and insulin-dependant diabetes." "" + "asthma, nasal polyps, and aspirin intolerance" "" + "asthma, short stature, and elevated IgA" "" + "ataxia with myoclonic epilepsy and presenile dementia" "" + "ataxia, deafness, and cardiomyopathy" "" + "ataxia - deafness - intellectual disability syndrome" "This syndrome is characterised by progressive ataxia beginning during childhood, deafness and intellectual deficit." "" + "X-linked deafness" "" + "ataxia-microcephaly-cataract syndrome" "" + "ataxia telangiectasia" "Ataxia-telangiectasia is the association of severe combined immunodeficiency (affecting mainly the humoral immune response) with progressive cerebellar ataxia. It is characterised by neurological signs, telangiectasias, increased susceptibility to infections and a higher risk of cancer." "" + "congenital combined immunodeficiency" "A broad classification of inherited disorders presenting at birth that affect both the cell-mediated and humoral aspects of the immune response. Circulating numbers of B lymphocytes, T lymphocytes and NK cells are variable but where present do not function properly. Susceptibility to infection is the primary concern." "" + "autosomal recessive cerebellar ataxia due to a DNA repair defect" "True" + "ataxia-telangiectasia with generalized skin pigmentation and early death" "" + "ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia" "A rare autosomal recessive cerebellar ataxia (ARCA), characterized by progressive cerebellar ataxia associated with oculomotor apraxia, severe neuropathy, and hypoalbuminemia." "" + "ataxia-telangiectasia-like disorder" "An autosomal recessive condition caused by mutation(s) in the MRE11A gene, encoding double-strand break repair protein MRE11. It is characterized by progressive cerebellar degeneration resulting in ataxia and oculomotor apraxia." "" + "coenzyme Q10 deficiency" "A genetically heterogeneous condition, typically inherited in an autosomal recessive fashion, characterized by coenzyme Q10 deficiency." "" + "atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome" "Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome is characterised by sensorineural deafness, diabetes mellitus, progressive neurological deterioration with photomyoclonic epilepsy, and progressive nephropathy. It has been described in two brothers. Premature atherosclerosis of renal, coronary, and cerebral arteries and the aorta was also observed." "" + "Athrombia, essential" "" + "atonic-astatic syndrome of Foerster" "" + "atransferrinemia" "Congenital atransferrinemia is a very rare hematologic disease caused by a transferrin (TF) deficiency and characterized by microcytic, hypochromic anemia (manifesting with pallor, fatigue and growth retardation) and iron overload, and that can be fatal if left untreated." "" + "atrichia with papular lesions" "Atrichia with papular lesions is a rare inherited form of alopecia characterized by irreversible hair loss during the neonatal period on all hear-bearing areas of the body, later associated with the development of papular lesions all over the body and preferentially on the face and extensor surfaces of the extremities." "" + "atrophoderma vermiculata" "" + "Cooper-Jabs syndrome" "Cooper-Wang-Jabs syndrome is a multiple malformation syndrome characterized by atresia of the auditory canal together with ventricular septal defect, anteriorly displaced anus, mild clubfoot, and intellectual deficit. It has been described only once, in two sisters. The mode of inheritance is most likely autosomal recessive." "" + "obsolete autism" "" "true" + "congenital central hypoventilation syndrome" "A rare disease due to a severely impaired central autonomic control of breathing and dysfunction of the autonomous nervous system. The incidence is estimated to be at 1 of 200 000 livebirths. A heterozygous mutation of PHOX-2B gene is found in 90% of the patients. Association with a Hirschsprung's disease is observed in 16% of the cases. Despite a high mortality rate and a lifelong dependence to mechanical ventilation, the long-term outcome of CCHS should be ultimately improved by multidisciplinary and coordinated follow-up of the patients." "" + "Barber-Say syndrome" "Barber Say syndrome (BSS) is a rare ectodermal dysplasia with neonatal onset characterized by congenital generalized hypertrichosis, atrophic skin, ectropion and microstomia." "" + "congenital entropion" "" + "Bardet-Biedl syndrome 1" "A Bardet-Biedl syndrome that has material basis in homozygous mutation in the BBS1 gene on chromosome 11q13." "" + "Bardet-Biedl syndrome" "A ciliopathy with multisystem involvement. It is invariantly characterized by rod-cone dystrophy, and at least three additional non-ocular features such as intellectual disability, obesity, polydactyly, hypogonadism, or renal anomalies as primary manifestations. In the absence of one of these four primary clinical features, the diagnosis of BBS is made when at least two secondary features are observed, including hepatic fibrosis, diabetes mellitus, reproductive and developmental abnormalities, growth retardation, speech delays, or cardiovascular problems" "" + "MHC class II deficiency" "Immunodeficiency by defective expression of HLA class 2 is a rare primary genetic immunodeficiency disorder characterized by partial or complete absence of human leukocyte antigen class 2 expression resulting in severe defect in both cellular and humoral immune response to antigens. The disorder presents clinically as marked susceptibility to infections, severe malabsorption and failure to thrive and is often fatal in early childhood." "" + "non-severe combined immunodeficiency" "" + "immunodeficiency 27A" "" + "inherited susceptibility to mycobacterial diseases" "Mendelian susceptibility to mycobacterial diseases (MSMD) is a rare immunodeficiency syndrome, characterized by a narrow vulnerability to poorly virulent mycobacteria, such as bacillus Calmette-Guerin (BCG) vaccines and environmental mycobacteria (EM), and defined by severe, recurrent infections, either disseminated or localized." "" + "Beemer-Ertbruggen syndrome" "Beemer-Ertbruggen syndrome is a lethal malformation syndrome reported in 2 brothers of first-cousin parents that is characterized by hydrocephalus, cardiac malformation, dense bones, and unusual facies with down-slanting palpebral fissures, bulbous nose, broad nasal bridge, micrognathia and a long upper lip. Transmission is likely autosomal recessive. There have been no further descriptions in the literature since 1984." "" + "Behr syndrome" "Behr syndrome is a disorder characterized by early-onset optic atrophy along with neurological features, including ataxia, spasticity, and intellectual disability. Other signs and symptoms may be present and vary from person to person. This condition is caused by mutations in the OPA1 gene. It is inherited in an autosomal recessive manner. Treatment depends on the specific signs and symptoms seen in the patient." "" + "syndromic hereditary optic neuropathy" "A hereditary optic neuropathy that is part of a larger syndrome." "" + "berry aneurysm, cirrhosis, pulmonary emphysema, and cerebral calcification" "" + "beta-aminoisobutyric acid, urinary excretion of" "" + "3-methylcrotonyl-CoA carboxylase 1 deficiency" "Any 3-methylcrotonyl-CoA carboxylase deficiency in which the cause of the disease is a mutation in the MCCC1 gene." "" + "3-methylcrotonyl-CoA carboxylase deficiency" "3-methylcrotonyl-CoA carboxylase deficiency (3-MCCD) is an inherited disorder of leucine metabolism characterized by a highly variable clinical picture ranging from metabolic crisis in infancy to asymptomatic adults." "" + "3-methylcrotonyl-CoA carboxylase 2 deficiency" "Any 3-methylcrotonyl-CoA carboxylase deficiency in which the cause of the disease is a mutation in the MCCC2 gene." "" + "sitosterolemia" "Sitosterolemia is a rare autosomal recessive sterol storage disease characterized by the accumulation of phytosterols in the blood and tissues. Clinical manifestations include xanthomas, arthralgia and premature atherosclerosis. Hematological manifestations include hemolytic anemia with stomatocytosis and macrothrombocytopenia. The disease is caused by homozygous or compound heterozygous mutations in ABCG5 (2p21) and ABCG8 (2p21) genes." "" + "Biemond syndrome type 2" "Biemond syndrome type 2 (BS2) is a rare genetic neurological and developmental disorder reported in a very small number of patients with a poorly defined phenotype which includes iris coloboma, short stature, obesity, hypogonadism, postaxial polydactyly, and intellectual disability. Hydrocephalus and facial dysostosis were also reported. BS2 shares features with Bardet-Biedl syndrome. There have been no further descriptions in the literature since 1997." "" + "Bietti crystalline corneoretinal dystrophy" "Bietti's crystalline dystrophy (BCD) is a rare progressive autosomal recessive tapetoretinal degeneration disease, occurring in the third decade of life, characterized by small sparkling crystalline deposits in the posterior retina and corneal limbus in addition to sclerosis of the choroidal vessels and manifesting as nightblindness, decreased vision, paracentral scotoma, and, in the end stages of the disease, legal blindness." "" + "bifid nose, autosomal recessive" "Autosomal recessive form of bifid nose." "" + "biliary atresia" "A rare, biliary tract disease characterized by progressive obliterative cholangiopathy of the intra- and extrahepatic bile ducts, occuring in the embryonic/ perinatal period, leading to severe and persistent neonatal jaundice and acholic stool." "" + "biliary malformation with renal tubular insufficiency" "" + "Seckel syndrome 1" "Any Seckel syndrome in which the cause of the disease is a mutation in the ATR gene." "" + "Seckel syndrome" "A rare autosomal recessive inherited syndrome caused by mutations in the ATR gene, RBBP8 gene, CENPJ gene, CEP152 gene, CEP63 gene, NIN gene, DNA2 gene, or TRAIP gene. It is characterized by intrauterine growth retardation, dwarfism, microcephaly, mental retardation, and a \"bird-headed\" facial appearance." "" + "bird headed-dwarfism, Montreal type" "Microcephalic primordial dwarfism, Montreal type is a rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by severe short stature and craniofacial dysmorphism (microcephaly, narrow face with flat cheeks, ptosis, prominent nose with a convex ridge, low-set ears with small or absent lobes, high-arched/cleft palate, micrognathia), associated with premature graying and loss of scalp hair, redundant, dry and wrinkled skin of the palms, premature senility and varying degrees of intellectual disability. Cryptorchidism and skeletal anomalies may also be observed. There have been no further descriptions in the literature since 1970." "" + "microcephalic primordial dwarfism" "" + "microcephalic osteodysplastic primordial dwarfism type I" "A microcephalic osteodysplastic primordial dwarfism that has material basis in homozygous or compound heterozygous mutation in the RNU4ATAC gene, encoding a small nuclear RNA (snRNA) component of the U12-dependent (minor) spliceosome, on chromosome 2q14.2. It is characterized by dwarfism, microcephaly, and neurologic abnormalities, including mental retardation, brain malformations, and ocular, auditory sensory deficits." "" + "microcephalic osteodysplastic primordial dwarfism types I and III" "Microcephalic osteodysplastic primordial dwarfism (MOPD) types 1 and 3 are characterized by intrauterine and postnatal growth retardation, microcephaly, facial dysmorphism, skeletal dysplasia, low-birth weight and brain anomalies. Although MOPD types 1 and 3 were originally described as two separate entities on the basis of radiological criteria (notably small differences in pelvic and long bone structure), later reports confirmed that the two forms represent different modes of expression of the same syndrome." "" + "microcephalic osteodysplastic primordial dwarfism type II" "'Microcephalic osteodysplastic primordial dwarfism type II (MOPDII) is a form of microcephalic primordial dwarfism (MPD) characterized by severe pre- and postnatal growth retardation, with marked microcephaly in proportion to body size, skeletal dysplasia, abnormal dentition, insulin resistance, and increased risk for cerebrovascular disease.'" "" + "microcephalic osteodysplastic primordial dwarfism, type 3" "" + "Bangstad syndrome" "Bangstad syndrome is a rare endocrine disease characterized by the association of primordial birdheaded nanism, progressive ataxia, goiter, primary gonadal insufficiency and insulin resistant diabetes mellitus. Plasma concentrations of TSH, PTH, LH, FSH, ACTH, glucagon, and insulin are usually elevated. A generalized cell membrane defect was suggested to be the pathophysiological abnormality in these patients. The mode of inheritance was thought to be autosomal recessive. There have been no further descriptions in the literature since 1989." "" + "polyendocrinopathy" "" + "blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome" "Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome is characterised by the association of blepharophimosis and ptosis, V-esotropia, and weakness of extraocular and frontal muscles with syndactyly of the toes, short stature, prognathism, and hypertrophy and fusion of the eyebrows. It has been described in six members of three related families. Transmission is autosomal recessive." "" + "Bloom syndrome" "Bloom syndrome (BSyn) is a rare chromosomal breakage syndrome characterized by a marked genetic instability associated with pre- and postnatal growth retardation, facial sun-sensitive telangiectatic erythema, increased susceptibility to infections, and predisposition to cancer." "" + "hereditary photodermatosis" "Hereditary photodermatoses are a spectrum of rare photosensitive disorders that are often caused by genetic deficiency or malfunction of various components of the DNA repair pathway. This results clinically in extreme photosensitivity, with many syndromes exhibiting an increased risk of cutaneous malignancies." "" + "microcephaly, growth restriction and increased sister chromatid exchange" "" + "blue diaper syndrome" "Blue Diaper syndrome is a hereditary metabolic disorder characterised by hypercalcaemia with nephrocalcinosis and indicanuria." "" + "inborn disorder of amino acid absorption and transport" "" + "bone dysplasia, lethal Holmgren type" "Bone dysplasia lethal Holmgren type (BDLH) is a lethal bone dysplasia characterized at birth by low birth weight, a rhizomelic dwarfism, bent femora and short chest producing asphyxia. It was described in three siblings from healthy, non-consanguineous parents of Finnish and in four siblings from non-consanguineous parents of French origin with no family history of dwarfism. The initial cases could have been diagnosed as Desbuquois syndrome, or a recessive Larsen syndrome. There has been no further description of BDLH in the literature since 1988." "" + "lethal chondrodysplasia" "" + "Bowen-Conradi syndrome" "Bowen-Conradi syndrome (BCS) is a lethal autosomal recessive ribosomal biogenesis disorder characterized by severe prenatal and postnatal growth retardation, microcephaly, a distinctive facial appearance, extreme psychomotor delay, hip and knee contractures and rockerbottom feet." "" + "Bowen syndrome of multiple malformations" "" + "kyphomelic dysplasia" "Kyphomelic dysplasia is a prenatal skeletal disease that causes dwarfism characterized bythe following: a disproportionately short stature with a short narrow chest,shortening and bending (bowing)of the limbs, flared irregular metaphyses of the bones, and characteristicfacial features.Bone changes are said to improve with age.Kyphomelic dysplasia is inherited in an autosomal recessive pattern. Recent studies indicate that Kyphomelic dysplasia is no longerconsidered it's ownentity and that individual cases should be further evaluated andre-classified as another existing chondrodysplasias, such as Schwartz-Jampel syndrome." "" + "congenital bowing of long bones" "Long bone bowing is a congenital condition described by the presence of symmetric or asymmetric angular deformity and shortening of the long bones, particularly the femurs, tibiae and ulnae." "" + "brachydactyly, type A2, with microcephaly" "" + "oculoosteocutaneous syndrome" "A syndrome is characterised by congenital anodontia, a small maxilla, short stature with shortened metacarpals and metatarsals, sparse hair, albinoidism and multiple ocular anomalies. It has been described in three siblings (one brother and two sisters). Transmission is autosomal recessive." "" + "Elsahy-Waters syndrome" "An extremely rare multiple congenital anomalies/dysmorphic syndrome, described in three boys from one family, and characterized by intellectual disability, hypertelorism, broad and flat nasal bridge, maxillary hypoplasia, mandibular prognathism, bifid uvula or partial cleft palate, multiple dental cysts, Schmorl nodes, fused cervical spinous processes, pectus excavatum, and penoscrotal hypospadias. There have been no further descriptions in the literature since 1971." "" + "Sabinas brittle hair syndrome" "" + "bronchiectasis with or without elevated sweat chloride 1" "" + "idiopathic bronchiectasis" "Idiopathic bronchiectasis (IB) is a progressive lung disease characterized by chronic dilation of the bronchi and destruction of the bronchial walls in the absence of any underlying cause (such as post infectious disease, aspiration, immunodeficiency, congenital abnormalities and ciliary anomalies)." "" + "Williams-Campbell syndrome" "" + "thromboangiitis obliterans" "Buerger disease, also known as thromboangiitis obliterans (TAO), is a rare inflammatory non-necrotizing vascular disease affecting the small- and medium-sized arteries and veins of the upper and lower extremities characterized by endarteritis and vaso-occlusion due to occlusive thrombus development. The development and progression of the disease is consistently associated with exposure to tobacco." "" + "predominantly medium-vessel vasculitis" "" + "riboflavin transporter deficiency" "A progressive motor neuron disorder characterized by respiratory insufficiency, sensorineural deafness and progressive ponto-bulbar palsy." "" + "bulbospinal muscular atrophy of childhood" "A bulbospinal muscular atrophy that occurs during childhood." "" + "progressive familial intrahepatic cholestasis type 1" "PFIC1, a type of progressive familial intrahepathic cholestasis (PFIC), is an infantile hereditary disorder in bile formation that is hepatocellular in origin and associated with extrahepatic features." "" + "progressive familial intrahepatic cholestasis" "Progressive familial intrahepatic cholestasis (PFIC) refers to a heterogeneous group of autosomal recessive disorders of childhood that disrupt bile formation and present with cholestasis of hepatocellular origin." "" + "C syndrome" "C syndrome is a rare multiple congenital anomaly/intellectual disability syndrome characterized by trigonocephaly and metopic suture synostosis, dysmorphic facial features, short neck, skeletal anomalies, and variable intellectual disability." "" + "cataract-hypertrichosis-intellectual disability syndrome" "Cataract-hypertrichosis-intellectual disability syndrome is characterized by congenital cataract, generalized hypertrichosis and intellectual deficit. It has been described in two Egyptian sibs born to consanguineous parents. It is transmitted as an autosomal recessive trait." "" + "hereditary arterial and articular multiple calcification syndrome" "Hereditary arterial and articular multiple calcification syndrome is a very rare genetic vascular disease of autosomal recessive inheritance, described in less than 20 patients to date, characterized by adult-onset (as early as the second decade of life) isolated calcification of the arteries of the lower extremities (including the iliac, femoral, and tibial arteries) as well as the capsule joints of the fingers, wrists, ankles and feet, and that usually manifests with mild paresthesias of the lower extremities, intense joint pain and swelling, and early onset arthritis of affected joints." "" + "campomelia, Cumming type" "Campomelia, Cumming type, is characterized by the association of limb defects and multivisceral anomalies." "" + "obsolete tumoral calcinosis, hyperphosphatemic, familial, 1" "" "true" + "camptodactyly syndrome, Guadalajara type 1" "Camptodactyly syndrome, Guadalajara type 1 is a rare syndrome consisting of growth retardation, facial dysmorphism, camptodactyly and skeletal anomalies." "" + "camptodactyly syndrome, Guadalajara type 2" "Camptodactyly syndrome, Guadalajara type 2 is an extremely rare multiple congenital anomaly syndrome characterized by distinctive intrauterine growth retardation, skeletal dysplasia with multiple malformations including camptodactyly of all fingers, bilateral hallux valgus, short second, fourth and fifth toes, hypoplastic patella, microcephaly, low-set ears, short neck, cuboid-shaped vertebral bodies, pectus excavatum, hip dislocation, and hypoplastic pubic region and genitalia. Camptodactyly syndrome, Guadalajara type 2 has been described in two sisters and is most likely transmitted in an autosomal recessive manner. There have been no further descriptions in the literature since 1985." "" + "camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia" "Camptodactyly - fibrous tissue hyperplasia - skeletal dysplasia syndrome is an extremely rare chondrodysplastic malformation syndrome that is characterized by the combination of arachnodactyly, becoming evident at around the age of 10, camptodactyly (hammertoes) and scoliosis. A mild facial dysmorphism including a broad nose and flaring nostrils, and a mild intellectual disability were also noted. Camptodactyly - fibrous tissue hyperplasia - skeletal dysplasia syndrome has been described once in 3 siblings and is suspected to follow autosomal recessive transmission. There have been no further descriptions in the literature since 1972." "" + "Tel Hashomer camptodactyly syndrome" "Tel Hashomer camptodactyly syndrome is a rare syndrome characterized by camptodactyly, muscle hypoplasia and weakness, skeletal anomalies, facial dysmorphism and abnormal dermatoglyphics." "" + "camptodactyly-ichthyosis syndrome" "" + "camptomelic syndrome, long-limb type" "" + "predisposition to invasive fungal disease due to CARD9 deficiency" "" + "obsolete carbimazole sensitivity" "" "true" + "PMM2-CDG" "PMM2-CDG is the most frequent form of congenital disorder of N-glycosylation and is characterized by cerebellar dysfunction, abnormal fat distribution, inverted nipples, strabismus and hypotonia. 3 forms of PMM2-CDG can be distinguished: the infantile multisystem type, late-infantile and childhood ataxia-intellectual disability type (3-10 yrs old), and the adult stable disability type. Infants usually develop ataxia, psychomotor delay and extraneurological manifestations including failure to thrive, enteropathy, hepatic dysfunction, coagulation abnormalities and cardiac and renal involvement. The phenotype is however highly variable and ranges from infants who die in the first year of life to mildly involved adults." "" + "disorder of protein N-glycosylation" "A disease that has its basis in the disruption of protein N-linked glycosylation." "" + "congenital disorder of glycosylation with hepatic involvement" "True" + "MGAT2-CDG" "MGAT2-CDG is a form of congenital disorders of N-linked glycosylation characterized by facial dysmorphism (large, posteriorly rotated ears with prominent antihelices, convex nasal ridge, open mouth, large and crowded teeth), stereotypic hand movements, seizures, and varying degrees of developmental delay. A bleeding tendency is also observed and this results from diminished platelet aggregation. The disease is caused by loss-of-function mutations in the gene MGAT2 (14q21)." "" + "congenital disorder of glycosylation, type i/IIx" "" + "carboxypeptidase N deficiency" "An autosomal recessive condition caused by mutation(s) in the CPN1 gene, encoding carboxypeptidase N catalytic chain. It may be characterized by episodic angioedema, chronic urticaria, asthma and/or allergic hypersensitivity." "" + "cardiac lipidosis, familial" "" + "histiocytoid cardiomyopathy" "Histiocytoid cardiomyopathy is an arrhythmogenic disorder characterised by cardiomegaly, severe cardiac arrhythmias or sudden death, and the presence of histiocyte-like cells within the myocardium." "" + "cardiac septal defects with coarctation of the aorta" "" + "cardiac valvular defect, developmental" "" + "cardioauditory syndrome of Sanchez Cascos" "" + "dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome" "A syndrome is characterized by the association of dilated cardiomyopathy and hypergonadotropic hypogonadism (DCM-HH)." "" + "cardiomyopathy associated with myopathy and sudden death" "" + "heart defects-limb shortening syndrome" "Heart defects limb shortening is an association disorder combining congenital heart malformation and skeletal dysplasia (including coronal clefting of the vertebral bodies and short limbs). It has been described only once in the literature, in two male sibs from Kuwaiti first-cousins. The clinical and radiological features of these patients were reported as a distinct cardioskeletal syndrome." "" + "carnitine-acylcarnitine translocase deficiency" "Carnitine-acylcarnitine translocase (CACT) deficiency is a life-threatening, inherited disorder of fatty acid oxidation which usually presents in the neonatal period with severe hypoketotic hypoglycemia, hyperammonemia, cardiomyopathy and/or arrhythmia, hepatic dysfunction, skeletal muscle weakness, and encephalopathy." "" + "fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy" "True" + "disorder of carnitine cycle and carnitine transport" "" + "systemic primary carnitine deficiency disease" "Systemic primary carnitine deficiency (SPCD) is a potentially lethal disorder of fatty acid oxidation characterized classically by early childhood onset cardiomyopathy often with weakness and hypotonia, failure to thrive and recurrent hypoglycemic hypoketotic seizures and/or coma." "" + "fatty acid oxidation and ketogenesis disorder with dilated cardiomyopathy" "True" + "carnitine deficiency, myopathic" "" + "carnosinemia" "Carnosinemia is a very rare inherited disorder that presents with serum carnosinase deficiency." "" + "homocarnosinosis" "Homocarnosinosis is a metabolic defect characterised by progressive spastic diplegia, intellectual deficit and retinitis pigmentosa. This extremely rare disorder has been reported in only one family, namely a woman and three of her children. The latter showed progressive spastic diplegia, mental retardation and retinitis pigmentosa but their mother was symptom free. It is therefore uncertain whether there is a relationship between the biochemical defect and the clinical symptoms. Inheritance in the reported family seems to be autosomal dominant." "" + "Sengers syndrome" "Congenital cataract - hypertrophic cardiomyopathy - mitochrondrial myopathy (CCM) is a mitochondrial disease characterized by cataracts, hypertrophic cardiomyopathy, muscle weakness and lactic acidosis after exercise." "" + "mitochondrial disease with hypertrophic cardiomyopathy" "True" + "mitochondrial substrate carrier disorder" "" + "disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement" "True" + "mitochondrial DNA depletion syndrome" "The mitochondrial DNA (mtDNA) depletion syndrome (MDS) is a clinically heterogeneous group of mitochondrial disorders characterized by a reduction of the mtDNA copy number in affected tissues without mutations or rearrangements in the mtDNA. MDS is phenotypically heterogeneous, and can affect a specific organ or a combination of organs, with the main presentations described being either hepatocerebral (i.e. hepatic dysfunction, psychomotor delay), myopathic (i.e. hypotonia, muscle weakness, bulbar weakness), encephalomyopathic (i.e. hypotonia, muscle weakness, psychomotor delay) or neurogastrointestinal (i.e gastrointestinal dysmotility, peripheral neuropathy). Additional phenotypes include fatal infantile lactic acidosis with methylmalonic aciduria, spastic ataxia (early-onset spastic ataxia-neuropathy syndrome), and Alpers syndrome." "" + "cardiac disease with cataract" "True" + "autosomal recessive palmoplantar keratoderma and congenital alopecia" "Autosomal recessive palmoplantar hyperkeratosis and congenital alopecia (PPK-CA) is a rare genetic skin disorder characterized by congenital alopecia and palmoplantar hyperkeratosis. It is usually associated with cataracts, progressive sclerodactyly and pseudo-ainhum." "" + "congenital cataract-ichthyosis syndrome" "Congenital cataract-ichthyosis syndrome is characterized by congenital cataract associated with ichthyosis. It has been described in less than ten patients from two unrelated families. Transmission is autosomal recessive." "" + "dentocutaneous disease with cataract" "True" + "cataract 46 juvenile-onset" "Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the LEMD2 gene." "" + "COFS syndrome" "Cerebrooculofacioskeletal (COFS) syndrome is a rare genetic disorder, belonging to a family of diseases of DNA repair, characterized by a severe sensorineural involvement." "" + "Cockayne syndrome" "Cockayne syndrome (CS) is a multisystem condition characterized by short stature, a characteristic facial appearance, premature aging, photosensitivity, progressive neurological dysfunction, and intellectual deficit." "" + "colobomatous optic disc-macular atrophy-chorioretinopathy syndrome" "" + "cataract-ataxia-deafness syndrome" "Cataract-ataxia-deafness syndrome is characterised by mild intellectual deficit, congenital cataract, progressive sensorineural deafness and ataxia. It has been described in two sisters. The inheritance is likely to be autosomal recessive." "" + "obsolete cataract-intellectual disability-hypogonadism syndrome" "" "true" + "celiac disease, susceptibility to, 1" "" + "Cenani-Lenz syndactyly syndrome" "Cenani-Lenz syndrome (CLS) is a congenital malformation syndrome that associates a complex syndactyly of the hands with malformations of the forearm bones and similar manifestations in the lower limbs." "" + "premature centromere division" "" + "cephalin lipidosis" "" + "cerebellar ataxia-ectodermal dysplasia syndrome" "Cereballar ataxia - ectodermal dysplasia is a very rare disease, characterized by hypodontia and sparse hair in combination with cerebellar ataxia and normal intelligence. Imaging demonstrates a cerebellar atrophy." "" + "cerebellar ataxia-hypogonadism syndrome" "Cerebellar ataxia-hypogonadism syndrome is a very rare autosomal recessive neurodegenerative disorder characterized by the combination of progressive cerebellar ataxia with onset from early childhood to the fourth decade, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Cerebellar ataxia-hypogonadism syndrome belongs to a clinical continuum of neurodegenerative disorders along with clinically overlapping disorders such as ataxia-hypogonadism-choroidal dystrophy syndrome." "" + "cerebellar ataxia and neurosensory deafness" "" + "cerebellar ataxia, benign, with thermoanalgesia" "" + "early-onset cerebellar ataxia with retained tendon reflexes" "Early onset cerebellar ataxia with retained reflexes (EOCARR) or Harding ataxia is a cerebellar ataxia characterized by the progressive association of a cerebellar and pyramidal syndrome with progressive cerebellar ataxia, brisk tendon reflexes, and sometimes profound sensory loss." "" + "autosomal recessive degenerative and progressive cerebellar ataxia" "" + "isolated cerebellar hypoplasia/agenesis" "Hypoplasia of the cerebellum that is associated with inherited metabolic disorders and neurodegenerative disorders. Signs and symptoms include mental and developmental delays, walking and balance difficulties, floppy muscle tone, and seizures." "" + "global cerebellar malformation" "" + "endosteal sclerosis-cerebellar hypoplasia syndrome" "Endosteal sclerosis-cerebellar hypoplasia syndrome is characterized by congenital cerebellar hypoplasia, endosteal sclerosis, hypotonia, ataxia, mild to moderate developmental delay, short stature, hip dislocation, and tooth eruption disturbances. It has been described in four patients. Less common manifestations are microcephaly, strabismus, nystagmus, optic atrophy, and dysarthria. It is appears to be transmitted as an autosomal recessive trait." "" + "hepatic fibrosis-renal cysts-intellectual disability syndrome" "Hepatic fibrosis-renal cysts-intellectual disability syndrome is a rare, syndromic intellectual disability characterized by early developmental delay with failure to thrive, intellectual disability, congenital hepatic fibrosis, renal cystic dysplasia, and dysmorphic facial features (bilateral ptosis, anteverted nostrils, high arched palate, and micrognathia). Variable additional features have been reported, including cerebellar anomalies, postaxial polydactyly, syndactyly, genital anomalies, tachypnea. There have been no further descriptions in the literature since 1987." "" + "cerebelloparenchymal disorder II" "" + "autosomal recessive spinocerebellar ataxia 2" "The disorders involving primarily the cerebellar parenchyma have been classified into six forms. In cerebelloparenchymal disorder III, cerebellar ataxia is congenital (non-progressive) and characterized by cerebellar symptoms such as incoordination of gait often associated with poor coordination of hands, speech and eye movements. The other features are congenital mental retardation and hypotonia, in addition to other neurological and non-neurological features. MRI or CT scan show marked atrophy of the vermis and hemispheres. A severe loss of granule cells with heterotopic Purkinje cells is observed. The mode of inheritance in the few reported families is autosomal recessive. In one family, cerebellar ataxia was associated to albinism.: In a large inbred Lebanese family the disease locus was assigned to a 12.1-cM interval on chromosome 9q34-qter between markers D9S67 and D9S312. The primary biochemical defect remains unknown. Up to now, the only treatment has consisted in early interventional therapies including intensive speech therapy and adequate stimulation and/or training." "" + "autosomal recessive congenital cerebellar ataxia" "" + "Joubert syndrome 1" "Any Joubert syndrome in which the cause of the disease is a mutation in the INPP5E gene." "" + "Joubert syndrome" "Joubert syndrome (JS) is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones." "" + "cerebral angiopathy, dysphoric" "" + "cerebrotendinous xanthomatosis" "Cerebrotendinous xanthomatosis (CTX) is an anomaly of bile acid synthesis characterized by neonatal cholestasis, childhood-onset cataract, adolescent to young adult-onset tendon xanthomata, and brain xanthomata with adult-onset neurologic dysfunction." "" + "bile acid synthesis defect with cholestasis and malabsorption" "True" + "sterol metabolism disorder with epilepsy" "True" + "cerebral lipidosis with dementia" "" + "metabolic disease with cataract" "True" + "cholesterol catabolic process disease" "A disease that has its basis in the disruption of cholesterol catabolic process." "" + "cerebral malformation, seizures, hypertrichosis, and overlapping fingers" "" + "cerebral sclerosis similar to Pelizaeus-Merzbacher disease" "" + "Pelizaeus-Merzbacher disease" "Pelizaeus-Merzbacher disease (PMD) is an X-linked leukodystrophy characterized by developmental delay, nystagmus, hypotonia, spasticity, and variable intellectual deficit. It is classified into three sub-forms based on the age of onset and severity: connatal, transitional, and classic PMD." "" + "cerebrocortical degeneration of infancy" "" + "cerebrofaciothoracic dysplasia" "Cerebro-facio-thoracic dysplasia or Pascual-Castroviejo syndrome type 1 is a rare syndrome characterized by facial dysmorphism, intellectual deficit and costovertebral abnormalities." "" + "peroxisome biogenesis disorder 1A (Zellweger)" "" + "peroxisome biogenesis disorder due to PEX1 defect" "Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX1 gene." "" + "classic presentation" "A severe form of a genetic disease." "" + "peroxisome biogenesis disorder 2A (Zellweger)" "" + "cerebrooculofacioskeletal syndrome 1" "Any COFS syndrome in which the cause of the disease is a mutation in the ERCC6 gene." "" + "obsolete congenital neuronal ceroid lipofuscinosis" "" "true" + "cervical vertebrae, agenesis of" "" + "Klippel-Feil syndrome 2, autosomal recessive" "Any isolated Klippel-Feil syndrome in which the cause of the disease is a mutation in the MEOX1 gene." "" + "CHAND syndrome" "" + "Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome" "A rare demyelinating hereditary motor and sensory neuropathy characterized by early-onset, slowly progressive, distal muscular weakness and atrophy with no sensory impairment, congenital sensorineural deafness and mild intellectual disability (with absence of normal speech development). The absence of large myelinated fibers on sural nerve biopsy is equally characteristic of the disease." "" + "Charcot-Marie-Tooth disease type 4A" "Charcot-Marie-Tooth disease type 4A (CMT4A) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by early-onset (infancy to early childhood) of severe, rapidly progressing demyelinating, axonal, or intermediate sensorimotor neuropathy usually affecting first, and more severely, the distal lower extremities and later the proximal muscles and upper extremities. Nerve conduction velocities range from very slow to normal. Apart from the typical CMT phenotype (distal muscle weakness and atrophy, sensory loss, frequent pes cavus foot deformity), patients commonly present delayed motor development, vocal cord paresis, mild sensory loss, abolished deep tendon reflexes, and skeletal deformities." "" + "Charcot-Marie-Tooth disease type 4" "Charcot-Marie-Tooth disease type 4 (CMT4) belongs to the genetically heterogeneous group of CMT peripheral sensorimotor polyneuropathy diseases." "" + "Charcot-Marie-Tooth disease recessive intermediate A" "Autosomal recessive intermediate Charcot-Marie-Tooth disease type A is a subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease characterized by severe, early childhood-onset CMT neuropathy with prominent pes equinovarus deformity and impairment of hand muscles. Nerve conduction velocities usually range between 25-35 m/s and both axonal and demyelinating changes are observed on peripheral nerve pathology." "" + "Griscelli syndrome type 1" "A Griscelli syndrome characterized by silvery gray sheen of the hair, hypopigmentation of the skin and neurological impairment without immunodeficiency that has material basis in mutations in the MYO5A gene on chromosome 15q21.2." "" + "Griscelli syndrome" "Griscelli syndrome (GS) is characterised by silvery gray sheen of the hair and hypopigmentation of the skin which can be associated to neurological impairment (type 1), immunodeficiency (type 2) or be isolated (type 3)." "" + "Chediak-Higashi syndrome" "ChC)diak-Higashi syndrome (CHS) is a rare severe genetic disorder generally characterized by partial oculocutaneous albinism (OCA), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. A classic, early-onset form and an attenuated, later-onset form (Atypical CHS) have been described." "" + "syndromic oculocutaneous albinism" "A oculocutaneous albinism that is part of a larger syndrome." "" + "disorder of lysosomal-related organelles" "" + "immunodeficiency syndrome with abnormal pigmentation" "True" + "dense granule disease" "" + "congenital secretory chloride diarrhea 1" "Any secretory diarrhea in which the cause of the disease is a mutation in the SLC26A3 gene." "" + "congenital intestinal transport defect" "" + "congenital secretory diarrhea" "" + "CHARGE syndrome" "CHARGE syndrome is a multiple congenital anomaly syndrome characterized by the variable combination of multiple anomalies, mainly Coloboma; Choanal atresia/stenosis; Cranial nerve dysfunction; Characteristic ear anomalies (known as the major 4 C's)." "" + "immunodeficiency due to absence of thymus" "True" + "lens shape anomaly" "" + "Aagenaes syndrome" "Cholestasis-lymphedema syndrome is a rare genetic disorder characterized by neonatal intrahepatic cholestasis, often lessening and becoming intermittent with age, and severe chronic lymphedema which mainly affects the lower limbs. Patients often present with fat malabsorption leading to failure to thrive, fat soluble vitamin deficiency with bleeding, rickets, and neuropathy. In 25% of cases, cirrhosis occurs during childhood or later in life." "" + "congenital bile acid synthesis defect 4" "An anomaly of bile acid synthesis characterized by mild cholestatic liver disease, fat malabsorption and/or neurological disease." "" + "alpha-methylacyl-CoA racemase deficiency" "A rare disorder caused by mutation in the AMACR gene. Racemization is the prerequisite to beta-oxidation for branched chain fatty acids and bile acids. It is characterized by neurological abnormalities that appear in adulthood and include cognitive decline, seizures, and sensorimotor neuropathy. AMACR deficiency rarely presents as liver disease in infancy." "" + "congenital bile acid synthesis defect" "" + "obsolete disorder of peroxisomal alpha-, beta- and omega-oxidation" "" "true" + "cholestasis with gallstone, ataxia, and visual disturbance" "" + "cholesterol pneumonia" "" + "chondrodysplasia Blomstrand type" "Blomstrand lethal chondrodysplasia (BLC) is a neonatal osteosclerotic dysplasia characterized by advanced endochondral bone maturation, very short limbs, dwarfism and prenatal lethality." "" + "chondrodysplasia calcificans Metaphysealis" "" + "rhizomelic chondrodysplasia punctata type 1" "A condition that impairs the normal development of many parts of the body. The major features of this disorder include skeletal abnormalities, distinctive facial features, intellectual disability, and respiratory problems. The condition is caused by mutations in the PEX7 gene. It is inherited in an autosomal recessive pattern. Rhizomelic chondrodysplasia punctata type 1 is one of five types of rhizomelic chondrodysplasia punctata. The types have similar features and are distinguished by their genetic cause." "" + "rhizomelic chondrodysplasia punctata" "Rhizomelic chondrodysplasia is a form chondrodysplasia punctata, a group of diseases in which the common characteristic is calcifications near joints at birth." "" + "peroxisome biogenesis disorder due to PEX7 defect" "Any peroxisome biogenesis disorder in which the cause of the disease is a mutation in the PEX7 gene." "" + "chondrodysplasia punctata, Toriello type" "Chondrodysplasia punctata, Toriello type is a rare, non-rhizomelic, primary bone dysplasia syndrome characterized by calcific stippling of epiphyses in association with minor facial abnormalities, short stature and ocular colobomata. In addition, patients present chondrodysplasia punctata, brachycephaly, flat facial profile with small nose, flat lower eyelids and low-set ears, developmental delay, brachytelephalangy and deep palmar creases. Complex congenital cardiac disease and central nervous system anomalies (including partial absence of corpus callosum, small vermis, enlargement of the cisterna magna and/or of the anterior horns of the lateral ventricles) have been reported." "" + "Greenberg dysplasia" "A very rare lethal skeletal dysplasia characterized by fetal hydrops, short limbs and abnormal chondro-osseous calcification. The disease is characterized by early in utero lethality and affected fetuses are considered as nonviable." "" + "sterol biosynthesis disorder" "An acquired metabolic disease that is has its basis in the disruption of sterol biosynthetic process." "" + "chondroitin-6-sulfaturia, defective cellular immunity, nephrotic syndrome" "" + "chorea, benign familial" "Benign hereditary chorea (BHC) is a rare movement disorder that beginsin infancy or childhood. Signs and symptoms in infants may include low muscle tone, involuntary movements (chorea), lung infections, and respiratory distress. Signs and symptoms in children may include delayed motor and walking milestones, jerky muscle movements (myoclonus), upper limb dystonia, motor tics, and vocal tics. The chorea often improves with time. In some cases, myoclonus persists or worsens. Children with BHC can havenormal intellect, but may have learning and behavior problems. Other signs and symptoms include thyroid problems (e.g., hypothyroidism) and lung disease (e.g., recurring infections). Treatment is tailored to each child. Tetrabenazine and levodopa have been tried in individual cases with some success. BHC is caused by mutations in the NKX2-1 gene (also known as the TITF1 gene). It is passed through families in an autosomal dominant fashion." "" + "ataxia-hypogonadism-choroidal dystrophy syndrome" "Ataxia-hypogonadism-choroidal dystrophy syndrome is a very rare autosomal recessive, slowly progressive neurodegenerative disorder characterized by the triad of cerebellar ataxia (that generally manifests at adolescence or early adulthood), chorioretinal dystrophy, which may have a later onset (up to the fifth-sixth decade) leading to variable degrees of visual impairment, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Ataxia-hypogonadism-choroidal dystrophy syndrome belongs to a clinical continuum of neurodegenerative disorders along with the clinically overlapping cerebellar ataxia-hypogonadism syndrome." "" + "infantile choroidocerebral calcification syndrome" "This syndrome is characterized by intellectual deficit, calcification of the choroid plexus, and elevated levels of cerebrospinal fluid (CSF) protein. It has been described in two sibships from two unrelated families. The seven children of one of the sibships were born to consanguineous parents. Some patients also had strabismus, hyperactive deep tendon reflexes and foot deformities." "" + "chromosomal instability with tissue-specific radiosensitivity" "" + "ciliary discoordination due to random ciliary orientation" "" + "primary ciliary dyskinesia" "Primary ciliary dyskinesia (PCD) is a rare, genetically heterogeneous, primarily respiratory disorder characterized by chronic upper and lower respiratory tract disease. Approximately half of PCD patients have an organ laterality defect (situs inversus totalis or situs ambiguus/heterotaxy)." "" + "ciliary dyskinesia with transposition of ciliary microtubules" "" + "circumvallate placenta syndrome" "" + "obsolete cirrhosis, familial" "" "true" + "citrullinemia type I" "Citrullinemia type I is a rare autosomal recessive urea cycle defect characterized biologically by hyperammonemia and clinically by progressive lethargy, poor feeding and vomiting in the neonatal form (Acute neonatal citrullinemia type I) and by variable hyperammonemia in the later-onset form (adult-onset citrullinemia type I)." "" + "citrullinemia" "Citrullinemia is an autosomal recessively inherited disorder of urea cycle metabolism and ammonia detoxification characterized by elevated concentrations of serum citrulline and ammonia. The disease presents with a large range of manifestations including neonatal hyperammonemic encephalopathy with lethargy, seizures and coma; hepatic dysfunction in all age groups; episodes of hyperammonemia and neuropsychiatric symptoms in children or adults, or, can be asymptomatic in some cases (detected in newborn screening programs). Citrullinemia is divided into two main groups that are encoded by different genes: citrullinemia type I (comprised of acute neonatal citrullinemia type I and adult-onset citrullinemia type I) and citrin deficiency (comprised of adult-onset citrullinemia type II and neonatal intrahepatic cholestasis due to citrin deficiency)." "" + "citrulline transport defect" "" + "cleft larynx, posterior" "" + "laryngotracheoesophageal cleft" "A laryngo-tracheo-esophageal cleft (LC) is a congenital malformation characterized by an abnormal, posterior, sagittal communication between the larynx and the pharynx, possibly extending downward between the trachea and the esophagus." "" + "Verloove Vanhorick-Brubakk syndrome" "Verloove Vanhorick-Brubakk syndrome is a multiple congenital anomalies/dysmorphic syndrome characterized by multiple skeletal malformations (short femora and humeri, bilateral absence of metatarsal and metacarpal bone in hands and feet, bilateral partial syndactyly of fingers and toes or oligopolysyndactyly, deformed lumbosacral spine), congenital heart disease (truncus arteriosus), lung and urogenital malformations (bilateral bilobar lungs, horseshoe kidney, cryptorchidism), and facial malformations (bilateral cleft lip and palate, micrognathia, small, low-set ears without external meatus). It is lethal in the neonatal period. There have been no further descriptions in the literature since 1981." "" + "Juberg-Hayward syndrome" "Juberg-Hayward syndrome is a polymalformative syndrome that associates multiple skeletal anomalies with microcephaly, facial dysmorphism, urogenital anomalies and intellectual deficit." "" + "cleft palate-stapes fixation-oligodontia syndrome" "Cleft palate - stapes fixation - oligodontia is characterized by cleft soft palate, severe oligodontia of the deciduous teeth, absence of the permanent dentition, bilateral conductive deafness due to fixation of the footplate of the stapes, short halluces with a wide space between the first and second toes, and fusion of carpal and tarsal bones. It has been described in two sisters of Swedish extraction. An autosomal recessive mode of inheritance is likely. There have been no further descriptions in the literature since 1971." "" + "cleidocranial dysplasia, recessive form" "" + "Yunis-Varon syndrome" "Yunis-Varon syndrome is a rare condition that affects many different parts of the body. Signs and symptoms are generally present from birth and may include underdeveloped or absent collarbones (clavicles); large fontanelles; characteristic facial features; hypotonia (reduced muscle tone) and/or abnormalities of the fingers and toes. Affected people may also experience feeding difficulties, breathing problems, brain malformations, heart defects, skeletal abnormalities, developmental delay, and/or intellectual disability. Yunis-Varon syndrome is caused by changes (mutations) in the FIG4 gene and isinherited in an autosomal recessive manner. Treatment is based on the signs and symptoms present in each person." "" + "COACH syndrome 1" "A very rare subtype of Joubert syndrome and related disorders (JSRD) characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF)." "" + "COACH syndrome" "A Mendelian disease characterized by infantile ataxia with hypo/aplastic vermis, hepatic fibrocirrhosis, slender-shaped skeleton, peculiar face, and moderate intellectual disability." "" + "Joubert syndrome and related disorders" "Joubert syndrome (JS) and related disorders (JSRD) are a group of developmental delay/multiple congenital anomaly syndromes in which the mandatory feature is the \"molar tooth sign'' (MTS), a complex midbrain-hindbrain malformation recognizable on brain imaging. The MTS is characterized by cerebellar vermis hypodysplasia, thickening and malorientation of the superior cerebellar peduncles and abnormally deep interpeduncular fossa." "" + "obsolete Cockayne syndrome A" "" "true" + "Cockayne syndrome type 3" "Cockayne syndrome type III, also known as the mild form of Cockayne syndrome, is a rare genetic disorder that causes early (premature) aging. Unlike the more severe forms of this condition, individuals with Cockayne syndrome type III can have normal growth and development. Symptoms may include sunlight sensitivity (photosensitivity), hearing loss, eye and bone abnormalities, and changes to the brain that can be seen on imaging (brain MRIs). In general, symptoms of Cockayne syndrome type III are usually not noticeable until later in childhood." "" + "Cohen syndrome" "Cohen syndrome (CS) is a rare genetic developmental disorder characterized by microcephaly, characteristic facial features, hypotonia, non-progressive intellectual deficit, myopia and retinal dystrophy, neutropenia and truncal obesity." "" + "familial reactive perforating collagenosis" "Familial reactive perforating collagenosis is a very rare genetic skin disease characterized by transepidermal elimination of collagen fibers presenting as recurrent spontaneously involuting keratotic papules or nodules." "" + "macular coloboma-cleft palate-hallux valgus syndrome" "Macular coloboma-cleft palate-hallux valgus syndrome is characterised by the association of bilateral macular coloboma, cleft palate, and hallux valgus. It has been described in a brother and sister. Pelvic, limb and digital anomalies were also reported. Transmission is autosomal recessive." "" + "coloboma, ocular, autosomal recessive" "" + "achromatopsia 2" "Achromatopsia 2 is a condition that affects the color vision. Most people have complete achromatopsia which is characterized by a total absence of color vision (only able to see black, white and shades of gray). Rarely, affected people may have incomplete achromatopsia which is associated with some color discrimination. Other common signs and symptoms include reduced visual acuity, involuntary back-and-forth eye movements, increased sensitivity to light (photophobia), and hyperopia (farsightedness). Achromatopsia 2 is caused by changes (mutations) in the CNGA3 gene and is inherited in an autosomal recessive manner. Although color discrimination cannot be improved, treatments are available to address some of the other associated symptoms." "" + "achromatopsia" "Achromatopsia (ACHM) is a rare autosomal recessive retinal disorder characterized by color blindness, nystagmus, photophobia, and severely reduced visual acuity due to the absence or impairment of cone function." "" + "obsolete combined inflammatory and immunologic defect" "" "true" + "complement component C1r/C1s deficiency" "Lack of production of either functional C1r or C1s protein, due to a genetic defect. Approximately 60% of patients with a C1r/C1s deficiency will develop a severe systemic lupus erythematosus at an early age. Patients also present with frequent sinopulmonary infections often with Streptococcus pneumoniae." "" + "immunodeficiency due to a classical component pathway complement deficiency" "" + "complement component 2 deficiency" "Complement component 2 deficiency (C2D) is a genetic condition that affects the immune system. Signs and symptoms include recurrent bacterial infections and risk for a variety of autoimmune conditions. Infections can be very serious and are common in early life. They become less frequent during the teen and adult years. The most frequent autoimmune conditions associated with C2D are lupus (10-20%) and vasculitis. C2D is caused by mutations in the C2 gene and is inherited in an autosomal recessive fashion." "" + "Jalili syndrome" "Jalili syndrome is characterized by the association of amelogenesis imperfecta (AI) and cone-rod retinal dystrophy (CORD)." "" + "heart defect - tongue hamartoma - polysyndactyly syndrome" "" + "hypoplasminogenemia" "Severe hypoplasminogenemia (HPG) or type 1 plasminogen (plg) deficiency is a systemic disease characterised by markedly impaired extracellular fibrinolysis leading to the formation of ligneous (fibrin-rich) pseudomembranes on mucosae during wound healing." "" + "aortic arch interruption" "Aortic arch interruption is a rare heart defect characterized by complete lack of anatomical continuity between the transverse aortic arch and the descending thoracic aorta. AAI should be distinguished anatomically from atresia of the aortic arch where continuity between these segments is achieved by an imperforate fibrous strand of various lengths." "" + "constriction rings syndrome" "Constriction rings syndrome is a congenital limb malformation disorder with an extremely variable clinical presentation characterized by the presence of partial to complete, congenital, fibrous, circumferential, constriction bands/rings on any part of the body, although a particular predilection for the upper or lower extremities is seen. Phenotypes range from only a mild skin indentation to complete amputation of parts of the fetus (e.g. digits, distal limb). Compression from the rings may lead to edema, skeletal anomalies (e.g. fractures, foot deformities) and, infrequently, neural compromise." "" + "amniotic band syndrome" "Amniotic band syndrome (ABS) describes a group of sporadic congenital anomalies, that occur in association with amniotic bands, involving the limbs, craniofacial regions, spine and trunk with a highly variable clinical spectrum ranging from simple digital band constriction (or amputation) to complex craniofacial, central nervous system and visceral anomalies." "" + "multiple pterygium-malignant hyperthermia syndrome" "Malignant hyperthermia-arthrogryposis-torticollisis an extremely rare arthrogryposis syndrome, described in only two pairs of siblings from two unrelated families to date, and characterized by the association of arthrogryposis, congenital torticollis, dysmorphic facial features (i.e. asymmetry of the face, myopathic facial movements, ptosis, posteriorly rotated ears, cleft palate), progressive scoliosis and episodes of malignant hyperthermia. There have been no further descriptions in the literature since 1988." "" + "convulsive disorder, familial, with prenatal or early onset" "" + "cornea plana 2" "Any cornea plana in which the cause of the disease is a mutation in the KERA gene." "" + "corneal dystrophy-perceptive deafness syndrome" "Corneal dystrophy-perceptive deafness (CDPD) or Harboyan syndrome is a degenerative corneal disorder characterized by the association of congenital hereditary endothelial dystrophy (CHED) with progressive, postlingual sensorineural hearing loss." "" + "band keratopathy" "The deposition of calcium on the cornea, resulting in pain and decreased visual acuity." "" + "corneal degeneration, band-shaped spheroid" "" + "central cloudy dystrophy of François" "Central cloudy dystrophy of François is a very rare form of stromal corneal dystrophy characterized by polygonal or rounded stromal opacities surrounded by clear tissue, and generally no effect on vision." "" + "congenital hereditary endothelial dystrophy of cornea" "Congenital hereditary endothelial dystrophy II (CHED II) is a rare subtype of posterior corneal dystrophy characterized by a diffuse ground-glass appearance of the corneas and marked corneal thickening from birth with nystagmus, and blurred vision." "" + "macular corneal dystrophy" "Macular corneal dystrophy (MCD) is a rare, severe form of stromal corneal dystrophy characterized by bilateral ill-defined cloudy regions within a hazy stroma, and eventually severe visual impairment." "" + "Toriello-Carey syndrome" "Toriello Carey syndrome is a multiple congenital anomaly syndrome characterized by craniofacial dysmorphic features, cerebral anomalies, swallowing difficulties, cardiac defects and hypotonia." "" + "corpus callosum, agenesis of" "A congenital abnormality characterized by the complete absence of the corpus callosum. It may be an isolated abnormality or associated with other central nervous system abnormalities or syndromes. Clinical manifestations vary. In cases of isolated corpus callosum agenesis, symptoms may be absent or minimal. In cases that are associated with other central nervous system abnormalities or syndromes, symptoms include developmental delays, motor coordination difficulties, and vision impairment." "" + "obsolete hereditary motor and sensory neuropathy with agenesis of the corpus callosum" "" "true" + "cortical blindness-intellectual disability-polydactyly syndrome" "This syndrome is characterised by cortical blindness, intellectual deficit, and polydactyly." "" + "apparent mineralocorticoid excess" "Apparent mineralocorticoid excess (AME) is a rare form of pseudohyperaldosteronism characterized by very early-onset and severe hypertension, associated with low renin levels and hypoaldosteronism." "" + "Costello syndrome" "Costello syndrome (CS) is a rare multisystemic disorder characterized by failure to thrive, short stature, developmental delay or intellectual disability, joint laxity, soft skin, and distinctive facial features. Cardiac and neurological involvement is common and there is an increased lifetime risk of certain tumors." "" + "cramps, familial adolescent" "" + "Crane-Heise syndrome" "Crane-Heise syndrome is a very rare syndrome characterized by poorly mineralized calvarium, facial dysmorphism, vertebral abnormalities and absent clavicles." "" + "cranial nerves, congenital paresis of" "" + "cranial nerves, recurrent paresis of" "" + "craniodiaphyseal dysplasia" "Craniodiaphyseal dysplasia is a rare sclerotic bone disorder with a variable phenotypic expression with massive generalized hyperostosis and sclerosis, particularly of the skull and facial bones, that may lead to severe deformity." "" + "cranioectodermal dysplasia" "Cranioectodermal dysplasia (CED) is a rare developmental disorder characterized by congenital skeletal and ectodermal defects associated with dysmorphic features, nephronophthisis, hepatic fibrosis and ocular anomalies (mainly retinitis pigmentosa)." "" + "short rib-polydactyly syndrome" "Short rib-polydactyly syndromes are a group of bone malformations characterized by a narrow thorax and polydactyly (usually preaxial)." "" + "temtamy syndrome" "Temtamy syndrome is a very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities." "" + "craniofacial dyssynostosis" "Craniofacial dyssynostosis (CFD) is a rare cranial malformation syndrome characterized by the premature closure of both lambdoid sutures and the posterior sagittal suture, resulting in abnormal skull contour (frontal bossing, anterior turricephaly with mild brachycephaly, biparietal narrowing, occipital concavity) and dysmorphic facial features (low-set ears, midfacial hypoplasia). Short stature, developmental delay, epilepsy, and oculomotor dyspraxia have also been reported. Associated anomalies include enlargement of the cerebral ventricles, agenesis of the corpus callosum, Arnold-Chiari malformation type I, venous anomalies of skull and hydrocephalus." "" + "craniometaphyseal dysplasia, autosomal recessive" "Autosomal recessive form of craniometaphyseal dysplasia." "" + "cardiocranial syndrome, Pfeiffer type" "Pfeiffer-type cardiocranial syndrome is an extremely rare disorder recognized in less than ten patients worldwide and characterized by a congenital heart defect, sagittal craniosynostosis and severe developmental delay (growth retardation and intellectual deficit)." "" + "craniosynostosis with anomalies of the cranial base and digits" "" + "craniosynostosis-fibular aplasia syndrome" "Craniosynostosis-fibular aplasia is an extremely rare genetic disease, reported in only 2 brothers to date, characterized by the combination of craniosynostosis (involving both coronal sutures), congenital absence of the fibula, cryptorchidism, and bilateral simian creases. Intelligence is normal and an autosomal recessive mode of inheritance has been proposed. There have been no further reports in the literature since 1972." "" + "Baller-Gerold syndrome" "Baller-Gerold syndrome is characterized by the association of coronal craniosynostosis with radial ray anomalies (oligodactyly, aplasia or hypoplasia of the thumb, aplasia or hypoplasia of the radius)." "" + "craniosynostosis-intellectual disability syndrome of 51N and Gettig" "" + "craniosynostosis-intellectual disability-clefting syndrome" "A recessive syndrome characterized by craniosynostosis, mental retardation, seizures, choroidal coloboma, dysplastic kidneys, bat ears, cleft lip and palate, and beaked nose." "" + "craniotelencephalic dysplasia" "Craniotelencephalic dysplasia is an extremely rare, genetic developmental defect during embryogenesis syndrome characterized by craniosynostosis with frontal encephalocele and various additional brain anomalies (severe hydrocephalus, agenesis of the corpus callosum, lissencephaly and polymicrogyria, parenchymal cysts, septo-optic dysplasia) resulting in marked cerebral dysfunction, seizures and very severe psychomotor delay. There have been no further descriptions in the literature since 1983." "" + "lissencephaly spectrum disorders" "The term lissencephaly covers a group of rare malformations sharing the common feature of anomalies in the appearance of brain convolutions (characterised by simplification or absence of folding) associated with abnormal organisation of the cortical layers as a result of neuronal migration defects during embryogenesis." "" + "Crigler-Najjar syndrome" "Crigler-Najjar syndrome (CNS) is a hereditary disorder of bilirubin metabolism characterized by unconjugated hyperbilirubinemia due to a hepatic deficit of bilirubin glucuronosyltransferase (GT) activity. Two types have been described, CNS types 1 and 2. CNS1 is characterized by a complete deficit of the enzyme and is unaffected by phenobarbital induction therapy, whereas the enzymatic deficit is partial and responds to phenobarbital in CNS2." "" + "cataract-nephropathy-encephalopathy syndrome" "Cataract - nephropathy - encephalopathy syndrome describes a lethal combination of manifestations including short stature, congenital cataracts, encephalopathy with epileptic fits, and postmortem confirmation of nephropathy (renal tubular necrosis). The combination of cataract - nephropathy - encephalopathy has been described in 2 female infant children of first cousin parents. The infants did not survive beyond 4 and 8 months respectively. There have been no further descriptions in the literature since 1963." "" + "Fraser syndrome" "Fraser syndrome is a rare clinical entity including as main characteristics cryptophthalmos and syndactyly." "" + "cryptorchidism" "The failure of one or both testes of a male fetus to descend from the abdomen into the scrotum during the late part of pregnancy. If not surgically corrected in early childhood, males may be at increased risk for testicular cancer later in life." "" + "curved nail of fourth toe" "" + "Cushing syndrome due to macronodular adrenal hyperplasia" "ACTH-independent macronodular adrenal hyperplasia (AIMAH) is a rare cause of Cushing syndrome (CS) characterized by nodular enlargement of both adrenal glands (multiple nodules above 1 cm in diameter) that produce excess cortisol and features of adrenocorticotropic hormone (ACTH) independent CS." "" + "ACTH-independent Cushing syndrome" "Adrenocorticotropic hormone (ACTH) independent Cushing syndrome is a form of endogenous Cushing syndrome (CS) that may result from excess secretion of cortisol by either a unilateral and benign (adrenocortical adenoma: 55-60%) or malignant (adrenocortical carcinoma: 35-40 %) adrenocortical tumor or by bilateral adrenal secretion by macronodular adrenal hyperplasia (AIMAH), as an isolated disease or as part of McCune-Albright syndrome (MAS), or by primary pigmented nodular adrenocortical disease (PPNAD), as an isolated disease or as part of Carney complex (CNC)." "" + "Cushing disease due to pituitary adenoma" "Cushing's syndrome due to abnormally high secretion of adrenocorticotropic hormone (ACTH) from the pituitary gland." "" + "ACTH-dependent Cushing syndrome" "Adrenocorticotropic hormone dependent Cushing syndrome (ACTH-dependent CS) is a form of endogenous CS caused by abnormal production of ACTH due, in 80% of cases, to ACTH oversecretion by a pituitary adenoma (Cushing disease, CD) and in 20% of cases to ectopic ACTH secretion (CS due to EAS) by an extrapituitary tumor (in 50% of cases originating in the lungs or less commonly in the thymus, pancreas, adrenal gland or thyroid) or very rarely due to a tumor secreting both ACTH and corticotrophin-releasing hormone (CRH)." "" + "cutaneous photosensitivity-lethal colitis syndrome" "Cutaneous photosensitivity and lethal colitisis is a rare inflammatory bowel disease characterized by early cutaneous photosensitivity manifesting by sun-induced facial erythematous and vesicular lesions and severe recurent colitis which lead to untreatable diarrhea. There have been no further descriptions in the literature since 1991." "" + "cutis laxa, autosomal recessive, type 1A" "An autosomal recessive cutis laxa type I that has material basis in homozygous or compound heterozygous mutation in the FBLN5 gene on chromosome 14q32." "" + "autosomal recessive cutis laxa type 1" "Autosomal recessive cutis laxa, type 1 (ARCL1) is a generalized connective tissue disorder characterized by the association of wrinkled, redundant and sagging inelastic skin with severe systemic manifestations (lung atelectesias and emphysema, vascular anomalies, and gastrointestinal and genitourinary tract diverticuli)." "" + "ALDH18A1-related de Barsy syndrome" "ALDH18A1-related De Barsy syndrome combines intellectual deficit, bilateral cataracts, and skin and joint hyperlaxity." "" + "de Barsy syndrome" "A rare autosomal recessive genetic disorder characterized by facial dysmorphism (down-slanting palpebral fissures, a broad flat nasal bridge and a small mouth) with a progeroid appearance, large and late-closing fontanel, cutis laxa (CL), joint hyperlaxity, athetoid movements and hyperreflexia, pre- and postnatal growth retardation, intellectual deficit and developmental delay, and corneal clouding and cataract." "" + "P5CS deficiency" "An inborn error of proline/orinthine metabolism that covers a wide spectrum of phenotypes and is caused by pathogenic variants in the aldehyde dehydrogenase 18 family member A1 (ALDH18A1) gene. These variants lead to a variety of neurocutaneous and motor syndromes characterized by cutis laxa, connective tissue weakness, facial dysmorphism, growth restriction, developmental delay, cataracts, hypotonia, hypertonia, and amyotrophy." "" + "autosomal recessive cutis laxa type 2, classic type" "" + "autosomal recessive cutis laxa type 2A" "An autosomal recessive cutis laxa type II classic type that has material basis in homozygous or compound heterozygous mutations in the ATP6V0A2 gene on chromosome 12q24." "" + "cutis marmorata telangiectatica congenita" "Cutis marmorata telangiectatica congenita (CMTC) is a congenital localized or generalized vascular anomaly characterized by a persistent cutis marmorata pattern with a marbled bluish to deep purple appearance, spider nevus-like telangiectasia, phlebectasia and, occasionally, ulceration and atrophy of the affected skin." "" + "cutis verticis gyrata and intellectual disability" "" + "cyanosis and hepatic disease" "" + "cystathioninuria" "Cystathioninuria is an autosomal recessive disorder caused by cystathionine gamma-lyase deficiency. It is usually pyridoxine-dependent, but in very rare cases it may be non-dependent. It is generally considered to be a benign condition without pathogenic relevance. However, association of cystathioninuria with intellectual impairment has been reported in several cases." "" + "cysteine Peptiduria" "" + "cystic disease of lung" "" + "obsolete rare male fertility disorder with obstructive azoospermia" "True" "true" + "obsolete rare genetic disorder with obstructive azoospermia" "True" "true" + "cystic fibrosis-gastritis-megaloblastic anemia syndrome" "A rare genetic disease reported in two siblings of consanguineous Arab parents and is characterized by cystic fibrosis, gastritis associated with Helicobacter pylori, folate deficiency megaloblastic anemia, and intellectual disability. There have been no further descriptions in the literature since 1991." "" + "ventriculomegaly-cystic kidney disease" "" + "ocular cystinosis" "Ocular cystinosis is the benign, adult form of cystinosis, a metabolic disease characterized by an accumulation of cystine crystals in the cornea and conjunctiva responsible for tearing and photophobia and associated with no other additional manifestations." "" + "cystinosis" "Cystinosis is a metabolic disease characterized by an accumulation of cystine inside the lysosomes, causing damage in different organs and tissues, particularly in the kidneys and eyes. Three clinical forms have been described: nephropathic infantile, nephropathic juvenile and ocular." "" + "obsolete cystinosis, nephropathic" "" "true" + "juvenile nephropathic cystinosis" "Nephropathic juvenile cystinosis is the intermediate form, in regards to severity and age of onset, of cystinosis, a metabolic disease characterized by an accumulation of cystine inside the lysosomes that causes damage in different organs and tissues, particularly in the kidneys and eyes." "" + "nephropathic cystinosis" "An autosomal recessive condition caused by mutation(s) in the CTNS gene, encoding cystinosin. It is a sub-type of cystinosis, in which accumulation of cystine in the kidney results in renal dysfunction." "" + "cystinuria" "Cystinuria is a renal tubular amino acid transport disorder characterized by recurrent formation of kidneys cystine stones." "" + "cytochrome-c oxidase deficiency disease" "A very rare inherited metabolic disorder characterized by deficiency of the enzyme cytochrome-C oxidase. It may be manifested as an isolated myopathy or a systemic disorder. Signs and symptoms include myotonia, dysfunction of the heart, kidney, and brain, and lactic acidosis." "" + "isolated oxidative phosphorylation complex disorder" "" + "congenital lactic acidosis, Saguenay-Lac-Saint-Jean type" "Saguenay-Lac-St. Jean (SLSJ) type congenital lactic acidosis, a French Canadian form of Leigh syndrome, is a mitochondrial disease characterized by chronic metabolic acidosis, hypotonia, facial dysmorphism and delayed development." "" + "D-glyceric aciduria" "A metabolic disorder characterized by D-glyceric acid excretion. It has been described in several patients. Clinical findings include progressive neurological impairment, hypotonia, seizures, failure to thrive and metabolic acidosis. Some patients had hyperglycinemia secondary to the organic acidemia. However, some of the reported patients were asymptomatic. D-glyceric aciduria is caused by D-glycerate kinase deficiency. The GLYCTK gene has been mapped to 3p21." "" + "hereditary renal hypouricemia" "Hereditary renal hypouricemia (HRH) is a rare autosomal recessively inherited renal membrane transport disorder affecting urate reabsorption in the proximal tubules leading to usually asymptomatic hypouricemia and predisposing to urolithiasis and exercise induced acute renal failure (EIARF)." "" + "Dandy-Walker syndrome" "Dandy-Walker malformation (DWM) is the association of three signs: hydrocephalus, partial or complete absence of the cerebellar vermis, and posterior fossa cyst contiguous with the fourth ventricle, presenting early in life with hydrocephalus, bulging occiput and posterior fossa signs such as cranial nerve palsies, nystagmus and ataxia." "" + "malformation of the cerebellar vermis" "" + "cystic malformation of the posterior fossa" "" + "Ritscher-Schinzel syndrome 1" "Any Ritscher-Schinzel syndrome in which the cause of the disease is a mutation in the WASHC5 gene." "" + "Ritscher-Schinzel syndrome" "Cranio-cerebello-cardiac (3C) syndrome is a rare multiple congenital anomalies syndrome characterized by craniofacial (prominent occiput and forehead, hypertelorism, ocular coloboma, cleft palate), cerebellar (Dandy-Walker malformation, cerebellar vermis hypoplasia) and cardiac (tetralogy of Fallot, atrial and ventricular septal defects) anomalies." "" + "facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome" "Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome is characterised by Dandy-Walker malformation, severe intellectual deficit, macrocephaly, brachytelephalangy, facial dysmorphism and severe myopia. Three cases have been described. Transmission appears to be autosomal recessive." "" + "Dandy-Walker malformation-postaxial polydactyly syndrome" "Dandy-Walker malformation with postaxial polydactyly syndrome is a syndromic disorder with, as a major feature, the association between Dandy-Walker malformation and postaxial polydactyly. The Dandy-Walker malformation has a variable expression and is characterized by a posterior fossa cyst communicating with the fourth ventricle, the partial or complete absence of the cerebellar vermis, and facultative hydrocephalus. Postaxial polydactyly includes tetramelic postaxial polydactyly of hands and feet with possible enlargement of the fifth metacarpal and metatarsal bones, as well as bifid fifth metacarpals." "" + "autosomal recessive nonsyndromic hearing loss 1A" "An autosomal recessive disorder caused by mutations in the GJB2 gene, encoding gap junction beta-2 protein. The condition is characterized by profound sensorineural hearing loss and may be associated with vestibular dysfunction." "" + "deafness, congenital, and familial myoclonic epilepsy" "" + "obsolete Jervell and Lange-Nielsen syndrome" "" "true" + "DOORS syndrome" "DOORS syndrome (also known as DOOR syndrome) is a multiple congenital anomalies-intellectual disability syndrome characterized by sensorineural hearing loss (deafness), onychodystrophy, osteodystrophy, mild to profound intellectual disability, and seizures. Isolated seizure disorders and isolated hearing loss have also been reported in individuals as a proposed spectrum of DOORS syndrome." "" + "split hand-foot malformation 1 with sensorineural hearing loss" "Split hand - split foot - deafness is an extremely rare genetic syndrome reported in a few families to date and characterized clinically by split hand/split foot malformation (SHFM) and mild to moderate sensorineural hearing loss, sometimes associated with cleft palate and intellectual deficit." "" + "deafness, congenital, with total albinism" "" + "high myopia-sensorineural deafness syndrome" "High myopia-sensorineural deafness syndrome is a rare genetic disease characterized by high myopia, typically ranging from -6.0 to -11.0 diopters, and moderate to profound, bilateral, progressive sensorineural hearing loss with prelingual-onset. Affected individuals do not present other systemic, ocular or connective tissue manifestations." "" + "conductive deafness-malformed external ear syndrome" "" + "conductive deafness-ptosis-skeletal anomalies syndrome" "Conductive deafness-ptosis-skeletal anomalies syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by conductive hearing loss due to atresia of the external auditory canal and the middle ear complicated by chronic infection, ptosis and skeletal anomalies (internal rotation of hips, dislocation of the radial heads and fifth finger clinodactyly). In addition, a thin, pinched nose, delayed hair growth and dysplastic teeth are associated. There have been no further descriptions in the literature since 1978." "" + "deafness-vitiligo-achalasia syndrome" "Deafness-vitiligo-achalasia syndrome is characterized by the association of deafness, short stature, vitiligo, muscle wasting, and achalasia." "" + "deafness-small bowel diverticulosis-neuropathy syndrome" "Deafness-small bowel diverticulosis-neuropathy syndrome is characterised by progressive sensorineural deafness, progressive sensory neuropathy and gastrointestinal abnormalities (progressive loss of gastric motility, small bowel diverticulosis)." "" + "deafness, neural, congenital moderate" "" + "deafness, neural, with atypical atopic dermatitis" "" + "deafness-oligodontia syndrome" "Deafness-oligodontia syndrome is characterised by sensorineural hearing loss and oligodontia/hypodontia. It has been described in two pairs of siblings and in one isolated case. Dizziness was reported in one of the pairs of siblings. Transmission appears to be autosomal recessive." "" + "hearing loss, sensorineural, autosomal-mitochondrial type" "" + "mitochondrial non-syndromic sensorineural hearing loss" "" + "non-acquired combined pituitary hormone deficiency with spine abnormalities" "Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome is a rare, genetic, non-acquired, combined pituitary hormone deficiency disorder characterized by panhypopituitarism (with or without ACTH deficiency) associated with spine abnormalities, including frequent rigid cervical spine and short neck with limited rotation, and variable degrees of sensorineural hearing loss. The anterior pituitary gland is usually abnormal (typically hypoplastic) and rarely a mild developmental delay or intellectual disability may be associated." "" + "polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly" "A rare inherited leukodystrophy characterized by progressive presenile dementia associated with recurrent bone fractures due to polycystic osseous lesions of the lower and upper extremities." "" + "dermatoleukodystrophy" "Dermatoleukodystrophy is characterised by the association of a progressive leukodystrophy marked by generalised mental and motor impairment with the presence of thickened and wrinkled skin. It has been described in a Japanese brother and sister born to healthy parents. Both patients died in early childhood." "" + "dermochondrocorneal dystrophy" "Dermochondrocorneal dystrophy is characterised by osteochondrodystrophy of the hands and feet, corneal dystrophy and the presence of skin nodules clustered around the metacarpophalangeal and interphalangeal joints, around the nose and ears and on the posterior surface of the elbow. Gingival lesions may also be present. It has been described in less than 20 patients. Transmission is autosomal recessive." "" + "dermatoosteolysis, Kirghizian type" "Dermatoosteolysis, Kirghizian type, is characterised by recurrent skin ulceration, arthralgia, fever, peri-articular osteolysis, oligodontia and nail dystrophy. This disease has been described in five sibs in a family of Kirghizian origin (Central Asia). Three of the sibs also presented with keratitis leading to visual impairment or blindess. Transmission is autosomal recessive." "" + "hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia" "Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia is a rare autosomal dominant disease characterized by a complex phenotype including progressive dementia, apraxia, apathy, impaired balance, parkinsonism, spasticity and epilepsy." "" + "persistent hyperplastic primary vitreous, autosomal recessive" "Autosomal recessive form of persistent hyperplastic primary vitreous." "" + "persistent hyperplastic primary vitreous" "A developmental ocular anomaly in which the primary vitreous body and its surrounding hyaloid vasculature failed to regress. It is usually unilateral and characterized by cataract; microphthalmos (small eyeballs), and retrolenticular fibrovascular tissue. (from Yanoff: Ophthalmology, 2nd ed.)" "" + "dextrocardia with unusual facies and microphthalmia" "" + "nephrogenic diabetes insipidus-intracranial calcification syndrome" "This syndrome is characterised by nephrogenic diabetes insipidus, intracerebral calcifications, intellectual deficit, short stature and facial dysmorphism." "" + "IDDM 1" "" + "Wolfram syndrome 1" "Any Wolfram syndrome in which the cause of the disease is a mutation in the WFS1 gene." "" + "Wolfram syndrome" "Wolfram syndrome (WS) also known as DIDMOAD, is a neurodegenerative disorder characterized by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs. Other related problems are urinary tract atony, ataxia, peripheral neuropathy, psychiatric disorders and/or seizures. 2 types of WS may be distinguished: type 1 and type 2 (WS1 and WS2)." "" + "diaminopentanuria" "" + "diaphragmatic hernia 2" "" + "Donnai-Barrow syndrome" "Donnai-Barrow syndrome (DBS) is a rare, often severe, multiple congenital malformation syndrome with typical facial dysmorphism, ocular findings, hearing loss, agenesis of the corpus callosum, and variable intellectual disability. Congenital diaphragmatic hernia (CDH) and/or omphalocele are common." "" + "trichohepatoenteric syndrome" "A severe congenital enteropathy manifesting as intractable diarrhea in the first month of life with failure to thrive and associated with facial dysmorphism, hair abnormalities, and, in some cases, immune disorders and intrauterine growth restriction." "" + "intractable diarrhea of infancy" "Intractable diarrhoea of infancy (IDI) is a heterogeneous syndrome that includes several diseases with different aetiologies. Provisional classification of IDI, according to villous atrophy and based on immunohistological criteria, distinguishes two clearly different groups of IDI: 1) Immune-mediated: characterised by a mononuclear cell infiltration of the lamina propria and considered as being related to T cell activation. 2) The second histological pattern includes early onset severe intractable diarrhoea histologically characterised by villous atrophy with low or without mononuclear cell infiltration of the lamina propria but specific histological abnormalities involving the epithelium." "" + "diastematomyelia" "A rare congenital abnormality in which the spinal cord is split in half by fibrous or bony tissue. It may present as an isolated phenomenon or in association with spina bifida." "" + "diastrophic dysplasia" "Diastrophic dwarfism is a rare disorder marked by short stature with short extremities (final adult height is 120cm +/- 10cm), and joint malformations leading to multiple joint contractures (principally involving the shoulders, elbows, interphalangeal joints and hips)." "" + "sulfation-related bone disorder" "" + "hyperdibasic aminoaciduria type 1" "Hyperdibasic aminoaciduria, type 1 is characterised by increased renal clearance of lysine, ornithine and arginine, in the presence of normal concentrations of cystine. Heterozygous individuals are asymptomatic but homozygotes display intellectual deficit. To date, 25 heterozygotes and one homozygote have been reported." "" + "lysinuric protein intolerance" "Lysinuric protein intolerance (LPI) is a very rare inherited multisystem condition caused by distrubance in amino acid metabolism." "" + "dicarboxylic aminoaciduria" "Dicarboxylicaminoaciduria is characterised by infantile-onset hypoglycaemia and hyperprolinaemia associated, in certain cases, with intellectual deficit." "" + "dihydropyrimidinuria" "Dihydropyrimidinase (DPD) deficiency is a very rare pyrimidine metabolism disorder with a variable clinical presentation including gastrointestinal manifestations (feeding problems, cyclic vomiting, gastroesophageal reflux, malabsorption with villous atrophy), hypotonia, intellectual deficit, seizures, and less frequently growth retardation, failure to thrive, microcephaly and autism. Asymptomatic cases are also reported. DPD deficiency increases the risk of 5-FU toxicity." "" + "inborn disorder of pyrimidine metabolism" "ANPM" "" + "rhizomelic chondrodysplasia punctata type 2" "Any rhizomelic chondrodysplasia punctata in which the cause of the disease is a mutation in the GNPAT gene." "" + "glyceronephosphate O-acyltransferase deficiency" "Any disorder of plasmalogen biosynthesis in which the cause of the disease is a mutation in the GNPAT gene." "" + "hemolytic anemia due to diphosphoglycerate mutase deficiency" "A rare, autosomal recessive, inherited disorder caused by mutation of the BPGM gene. It is characterized by hemolytic anemia and splenomegaly." "" + "disorder of glycolysis" "" + "hemolytic anemia due to a disorder of glycolytic enzymes" "True" + "congenital sucrase-isomaltase deficiency" "A disorder of carbohydrate absorption and transport caused by autosomal recessive mutation of the SI gene, characterised by malabsorption of sucrose and maltose." "" + "disorder of carbohydrate absorption and transport" "" + "congenital intestinal disease due to an enzymatic defect" "True" + "congenital lactase deficiency" "Congenital lactase deficiency is a rare severe gastrointestinal disorder in newborns primarily reported in Finland and characterized clinically by watery diarrhea on feeding with breast-milk or lactose-containing formula." "" + "obsolete lactose intolerance" "" "true" + "obsolete disorganization, mouse, homolog of" "" "true" + "disseminated sclerosis with narcolepsy" "" + "diverticulosis, small-intestinal" "" + "diverticulosis of bowel, hernia, and retinal detachment" "A syndromic intestinal malformation characterized by the association of marfanoid habitus with visceral diverticula. It has been reported in four adults and two siblings from a consanguineous marriage in two different publications. Pediatric cases also presented with diaphragmatic hernia. Other connective tissue disorders with visceral diverticula have been reported previously, suggesting a relationship between these two conditions." "" + "syndromic intestinal malformation" "A intestinal malformation that is part of a larger syndrome." "" + "von Voss-Cherstvoy syndrome" "Von Voss-Cherstvoy syndrome is a very rare disorder with phocomelia of upper limbs, encephalocele, variable brain anomalies, urogenital abnormalities, and thrombocytopenia." "" + "Dohle bodies and leukemia" "" + "dopamine beta-hydroxylase deficiency" "Dopamine beta-hydroxylase deficiency is an extremely rare genetic metabolic disorder characterized by autonomic dysregulation leading mainly to orthostatic hypotension." "" + "disorder of catecholamine synthesis" "" + "inherited orthostatic hypotension" "" + "Dubowitz syndrome" "Dubowitz syndrome (DS) is a rare multiple congenital syndrome characterized primarly by growth retardation, microcephaly, distinctive facial dysmorphism, cutaneous eczema, a mild to severe intellectual deficit and genital abnormalities." "" + "dopamine beta-hydroxylase, plasma, thermolability of" "" + "duodenal atresia" "Duodenal atresia is an embryopathy of the cranial intestine that leads to a complete absence of the duodenal lumen." "" + "non-syndromic gastroduodenal malformation" "A gastroduodenal malformation that is not part of a larger syndrome." "" + "non-syndromic intestinal malformation" "A intestinal malformation that is not part of a larger syndrome." "" + "dwarfism, low-birth-weight type, with unresponsiveness to growth hormone" "" + "dwarfism, intellectual disability, and eye abnormality" "" + "dwarfism, proportionate, with hip dislocation" "" + "Dyggve-Melchior-Clausen disease" "Dyggve-Melchior-Clausen disease (DMC) is a rare skeletal disorder belonging to the group of spondyloepimetaphyseal dysplasias." "" + "Riley-Day syndrome" "A congenital disorder caused by mutations in the IKBKAP gene. It is characterized by damage of the sympathetic and parasympathetic and sensory nervous system." "" + "autosomal recessive hereditary sensory and autonomic neuropathy" "Autosomal recessive form of hereditary sensory and autonomic neuropathy." "" + "congenital alacrima" "" + "dysautonomia-like disorder" "" + "cerebellar ataxia, intellectual disability, and dysequilibrium" "A non-progressive cerebellar disorder characterized by ataxia associated with an intellectual disability, delayed ambulation and cerebellar hypoplasia." "" + "congenital dyserythropoietic anemia type 2" "Congenital dyserythropoietic anemia type II (CDA II) is the most common form of CDA characterized by anemia, jaundice and splenomegaly and often leading to liver iron overload and gallstones." "" + "disorder of multiple glycosylation" "" + "anemia, congenital dyserythropoietic, type 1a" "" + "congenital dyserythropoietic anemia type 1" "Congenital dyserythropoietic anemiatype I (CDA I) is a hematologic disorder of erythropoiesis characterized by moderate to severe macrocytic anemia occasionally associated with limb or nail deformities and scoliosis." "" + "dyskeratosis congenita, autosomal recessive 1" "A dyskeratosis congenita that has material basis in an autosomal recessive mutation of NOLA3 on chromosome 15q14." "" + "dysmyelination with jaundice" "" + "dysosteosclerosis" "Dysosteosclerosis is a skeletal dysplasia characterized by progressive osteosclerosis and platyspondyly." "" + "dyssegmental dysplasia, Rolland-Desbuquois type" "" + "Silverman-Handmaker type dyssegmental dysplasia" "Dyssegmental dysplasia, Silverman-Handmaker type is a rare, genetic, primary bone dysplasia, and lethal form of neonatal short-limbed dwarfism, characterized by anisospondyly, severe short stature and limb shortening, metaphyseal flaring and distinct dysmorphic features (i.e. flat facial appearance, abnormal ears, short neck, narrow thorax). Additional features may include other skeletal findings (e.g. joint contractures, bowed limbs, talipes equinovarus) and urogenital and cardiovascular abnormalities." "" + "qualitative or quantitative defects of perlecan" "" + "perlecan-related bone disorder" "" + "torsion dystonia 2" "Primary dystonia DYT2 type is characterized by segmental dystonia that manifests with involuntary posturing affecting predominantly the feet." "" + "dystonia with Ringbinden" "" + "Meier-Gorlin syndrome 1" "Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the ORC1 gene." "" + "Meier-Gorlin syndrome" "Ear-patella-short stature syndrome is an association of malformations including bilateral microtia (severe hypoplasia of ear pinnae), absent patellae, short stature, poor weight gain, and characteristic facial features such as high forehead, micrognathism with full lips and small mouth, and accentuated nasolabial folds (smile wrinkles linking the nostrils to the labial commissure)." "" + "Ebstein anomaly" "Ebstein's malformation is a rare congenital cardiac anomaly characterized by rotational displacement of the septal and inferior leaflets of the tricuspid valve such that they are hinged within the right ventricle, rather than as expected at the atrioventricular junction." "" + "obsolete genetic cardiac malformation" "" "true" + "SchC6pf-Schulz-Passarge syndrome" "A rare autosomal recessive ectodermal dysplasia characterized by multiple eyelid apocrine hidrocystomas, palmoplantar keratoderma, hypotrichosis, hypodontia and nail dystrophy." "" + "ectodermal dysplasia-sensorineural deafness syndrome" "Ectodermal dysplasia-sensorineural deafness syndrome is characterised by hidrotic ectodermal dysplasia, sensorineural hearing loss, and contracture of the fifth fingers. It has been described in brother and sister born to consanguineous parents. The girl also presented with thoracic scoliosis. The mode of inheritance is likely to be autosomal recessive." "" + "ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive" "" + "autosomal recessive hypohidrotic ectodermal dysplasia" "A rare autosomal recessive disorder characterized by developmental abnormalities of the skin, sweat glands, hair and nails. Patients have a reduced ability to sweat. Other signs and symptoms include hypotrichosis and teeth malformations." "" + "Rosselli-Gulienetti syndrome" "A rare congenital ectodermal dysplasia syndrome with a range of signs and symptoms including cleft lip or palate, mental retardation and various forms of ectodermal dysplasia. Additional symptoms may include fused eyelids, absent nails, delayed bone growth and dry skin. It is believed that this syndrome follows an autosomal dominant pattern of inheritance with incomplete penetrance, and caused by a mutation affecting the TP63 gene" "" + "ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome" "Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome is a rare, multiple developmental anomalies syndrome characterized by the triad of ectodermal dysplasia (mostly hypohidrotic with dry skin and reduced sweating and sparse, fair scalp hair, eyebrows and eyelashes), severe intellectual disability and variable central nervous system anomalies (cerebellar hypoplasia, dilatation of ventricles, corpus callosum agenesis, Dandy-Walker malformation). Distinct craniofacial dysmorphism with macrocephaly, frontal bossing, midfacial hypoplasia and high arched or cleft palate, as well as cryptorchidism, feeding difficulties and hypotonia, are associated. There have been no further descriptions in the literature since 1998." "" + "hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome" "Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome is characterised by alopecia, nail dystrophy, ophthalmic complications, thyroid dysfunction (primary hypothyroidism), hypohidrosis, ephelides, enteropathy, and respiratory tract infections due to ciliary dyskinesia, leading to suggestion of the acronym ANother syndrome as alternative name for this condition. It has been described in three patients (two brothers and an unrelated girl). Transmission is autosomal recessive." "" + "syndromic hypothyroidism" "A hypothyroidism that is part of a larger syndrome." "" + "cleft lip/palate-ectodermal dysplasia syndrome" "An ectodermal dysplasia syndrome characterized by hair, skin and teeth anomalies, facial dysmophism with cleft lip and palate, cutaneous syndactyly and, in some cases, intellectual disability." "" + "ectopia lentis 2, isolated, autosomal recessive" "An isolated ectopia lentis that has material basis in homozygous or compound heterozygous mutation in the ADAMTSL4 gene on chromosome 1q21." "" + "ectopia lentis et pupillae" "" + "hypothyroidism, congenital, nongoitrous, 5" "Any hypothyroidism, congenital, nongoitrous in which the cause of the disease is a mutation in the NKX2-5 gene." "" + "EEM syndrome" "EEM syndrome is characterised by the association of ectodermal dysplasia, ectrodactyly, and macular dystrophy. So far, it has been described in individuals from seven families. Hypotrichosis, dental anomalies and absent eyebrows have also been reported. EMM syndrome appears to be transmitted as an autosomal recessive trait and may be caused by mutations in the cadherin-3 gene (CH3, 16q22.1)." "" + "ectrodactyly-polydactyly syndrome" "A rare, genetic, congenital limb malformation disorder characterized by hypoplasia or absence of central digital rays of the hands and/or feet and the presence of one or more, unilateral or bilateral, supernumerary digits on postaxial rays, ranging from hypoplastic digits devoid of osseous structures to complete duplication of a digit. Cutaneous syndactyly, symphalangism and clinodactyly have also been reported. There have been no further descriptions in the literature since 1982." "" + "split hand-foot malformation 6" "Any split hand-foot malformation in which the cause of the disease is a mutation in the WNT10B gene." "" + "Ehlers-Danlos syndrome, fibronectinemic type" "Ehlers-Danlos syndromes (EDS) form a heterogeneous group of inherited connective tissue disorders characterized by variable joint hypermobility and cutaneous hyperextensibility. Type X is distinguished by platelet dysfunction associated with a fibronectin abnormality. Type X EDS has been described in only one family so far. Age of onset is about 13-25 years. Transmission is autosomal recessive." "" + "Ehlers-Danlos syndrome, cardiac valvular type" "Ehlers-Danlos syndrome, cardiac valvular type is a form of Ehlers-Danlos syndrome characterized by soft skin, skin hyperextensibility, easy bruisability, atrophic scar formation, joint hypermobility and cardiac valvular defects comprising mitral and/or aortic valve insufficiency." "" + "obsolete Ehlers-Danlos syndrome, type 6" "" "true" + "Ehlers-Danlos syndrome, dermatosparaxis type" "A form of Ehlers-Danlos syndrome (EDS) characterized by extreme skin fragility and laxity, a prominent facial gestalt, excessive bruising and, sometimes, major complications due to visceral and vascular fragility." "" + "Ellis-van Creveld syndrome" "Ellis-van Creveld syndrome (EVC) is a skeletal and ectoderlam dysplasia characterized by a tetrad of short stature, postaxial polydactyly, ectodermal dysplasia, and congenital heart defects." "" + "encephalomalacia, multilocular" "" + "encephalopathy, axonal, with necrotizing myopathy, cardiomyopathy, and cataracts" "" + "Aicardi-Goutieres syndrome 1" "Any Aicardi-Goutieres syndrome in which the cause of the disease is a mutation in the TREX1 gene." "" + "pontocerebellar hypoplasia type 4" "Pontocerebellar hypoplasia type 4 (PCH4) is a very rare form of PCH, characterized by prenatal onset of polyhydramnios and contractures followed by hypertonia, severe clonus, primary hypoventilation leading to an early postnatal death." "" + "pontocerebellar hypoplasia" "Pontocerebellar hypoplasias (PCH) are a rare heterogeneous group of diseases characterized by hypoplasia and atrophy and/or early neurodegeneration of the cerebellum and pons. Eight subtypes named type 1-8 have been described, generally inherited in an autosomal recessive pattern." "" + "Bonnemann-Meinecke-Reich syndrome" "Bonnemann-Meinecke-Reich syndrome is a syndrome of multiple congenital anomalies characterized by an encephalopathy which predominantly occurs in the first year of life and presenting as psychomotor delay. Additional features of the disease include moderate dysmorphia, craniosynostosis, dwarfism (due to growth hormone deficiency), intellectual disability, spasticity, ataxia, retinal degeneration, and adrenal and uterine hypoplasia. The disease has been described in only two families, with each family having two affected siblings. An autosomal recessive inheritance has been suggested. There have been no further descriptions in the literature since 1991." "" + "Fowler syndrome" "" + "endocardial fibroelastosis" "Endomyocardial fibroelastosis is a cause of unexplained childhood cardiac insufficiency. It results from diffuse thickening of the endocardium leading to dilated myocardiopathy in the majority of cases and restrictive myocardiopathy in rare cases. It may occur as a primary disorder or may be secondary to another cardiac malformation, notably aortic stenosis or atresia." "" + "familial dilated cardiomyopathy" "A a genetic form of heart disease that occurs when heart (cardiac) muscle becomes thin and weakened in at least one chamber of the heart, causing the open area of the chamber to become enlarged (dilated). As a result, the heart is unable to pump blood as efficiently as usual. To compensate, the heart attempts to increase the amount of blood being pumped through the heart, leading to further thinning and weakening of the cardiac muscle. Over time, this condition results in heart failure." "" + "familial restrictive cardiomyopathy" "An instance of restrictive cardiomyopathy that is caused by an inherited modification of the individual's genome." "" + "endocardial fibroelastosis and coarctation of abdominal aorta" "" + "endothelial dystrophy, congenital hereditary, with nail hypoplasia" "" + "congenital enteropathy due to enteropeptidase deficiency" "Congenital enteropathy due to enteropeptidase deficiency is a rare, genetic, gastroenterological disease characterized by early-onset failure to thrive, edema, hypoproteinemia, diarrhea and fat malabsorption (or steatorrhea) in the presence of very low or absent trypsin activity in duodenal fluid. Celiac disease, or other pancreatic or mucosal disorders, may be associated." "" + "protein-losing enteropathy" "Pathological conditions in the intestines that are characterized by the gastrointestinal loss of serum proteins, including serum albumin; immunoglobulins; and at times lymphocytes. Severe condition can result in hypogammaglobulinemia or lymphopenia. Protein-losing enteropathies are associated with a number of diseases including intestinal lymphangiectasis; whipple'S disease; and neoplasms of the small intestine." "" + "eosinophilic fasciitis" "Eosinophilic fasciitis is a rare connective tissue disease that is characterized by inflammation and thickening of the fascia, usually associated with peripheral eosinophilia. It presents during adulthood with symmetrical and painful swelling of mainly the extremities that progressively become indurated. Fatigue, disabling cutaneous fibrosis, myositis and arthritis may also be observed." "" + "acquired idiopathic inflammatory myopathy" "An umbrella term for diseases which have chronic muscle inflammation and weakness of unknown etiology. The types of idiopathic inflammatory myopathy are further defined by either clinicopathologic criteria or by the presence of certain autoantibodies." "" + "epidermodysplasia verruciformis" "Epidermodysplasia verruciformis (EV) is a rare inherited genodermatosis characterized by chronic infection with human papillomavirus (HPV) leading to polymorphous cutaneous lesions and high risk of developing non melanoma skin cancer." "" + "late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome" "" + "junctional epidermolysis bullosa" "Junctional epidermolysis bullosa (JEB) is a form of inherited epidermolysis bullosa characterized by involvement of the skin and mucous membranes, and is defined by the formation of blistering lesions between the epidermis and the dermis at the lamina lucida level of the cutaneous basement membrane zone and by healing of lesions with atrophy and/or exuberant granulation tissue formation." "" + "epidermolysis bullosa dystrophica Neurotrophica" "" + "recessive dystrophic epidermolysis bullosa" "Severe generalized recessive dystrophic epidermolysis bullosa (RDEB-sev gen) is the most severe subtype of dystrophic epidermolysis bullosa (DEB), formerly known as the Hallopeau-Siemens type, and is characterized by generalized cutaneous and mucosal blistering and scarring associated with severe deformities and major extracutaneous involvement." "" + "junctional epidermolysis bullosa, non-Herlitz type" "Junctional epidermolysis bullosa, non-Herlitz (JEB-nH) is a subtype of junctional epidermolysis bullosa (JEB) characterized by the presence of skin and mucosal blistering, nail dystrophy or nail absence and enamel hypoplasia." "" + "junctional epidermolysis bullosa Herlitz type" "Junctional epidermolysis bullosa, Herlitz-type is a severe subtype of junctional epidermolysis bullosa (JEB) characterized by blisters and extensive erosions, localized to the skin and mucous membranes." "" + "epidermolysis bullosa simplex with muscular dystrophy" "Epidermolysis bullosa simplex with muscular dystrophy (EBS-MD) is a basal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized blistering associated with muscular dystrophy." "" + "autosomal recessive limb-girdle muscular dystrophy" "Autosomal recessive form of limb-girdle muscular dystrophy." "" + "qualitative or quantitative defects of plectin" "" + "junctional epidermolysis bullosa with pyloric atresia" "Junctional epidermolysis bullosa with pyloric atresia is a severe subtype of junctional epidermolysis bullosa (JEB) characterized by generalized blistering at birth and congenital atresia of the pylorus and rarely of other portions of the gastrointestinal tract." "" + "epidermolysis bullosa with diaphragmatic hernia" "" + "amelocerebrohypohidrotic syndrome" "Kohlschütter-TC6nz syndrome (KTS) is a genetically heterogeneous autosomal recessive syndrome characterized by the triad of amelogenesis imperfect, infantile onset epilepsy, intellectual disability with or without regression and dementia." "" + "epilepsy, photogenic, with spastic diplegia and intellectual disability" "" + "celiac disease-epilepsy-cerebral calcification syndrome" "Celiac disease, epilepsy and cerebral calcification syndrome (CEC) is a rare disorder characterized by the combination of auto-immune intestinal disease, epileptic seizures and cerebral calcifications." "" + "antibody mediated epilepsy" "An immune epilepsy where the underlying cause is antibody mediated." "" + "epilepsy-telangiectasia syndrome" "Epilepsy telangiectasia syndrome is characterized by intellectual deficit, epilepsy, palpebral conjunctival telangiectasias and diminished serum IgA, particular facies and a shortened fifth finger. It has been reported in six siblings from a Mexican family. It is probably transmitted as an autosomal recessive trait." "" + "multiple epiphyseal dysplasia type 4" "Multiple epiphyseal dysplasia type 4 is a multiple epiphyseal dysplasia with a late-childhood onset, characterized by joint pain involving hips, knees, wrists, and fingers with occasional limitation of joint movements, deformity of hands, feet, and knees (club foot, clinodactyly, brachydactyly), scoliosis and slightly reduced adult height. Radiographs display flat epiphyses with early arthritis of the hip, and double-layered patella. Multiple epiphyseal dysplasia type 4 follows an autosomal recessive mode of transmission. The disease is allelic to diastrophic dwarfism, atelosteogenesis type 2 and achondrogenesis type 1B with whom it forms a clinical continuum." "" + "epiphyseal dysplasia of femoral head, myopia, and deafness" "" + "Lowry-Wood syndrome" "Lowry-Wood syndrome is characterized by the association of epiphyseal dysplasia, short stature, microcephaly and, in the first reported cases, congenital nystagmus. So far, less than 10 cases have been described in the literature. Variable degrees of intellectual deficit have also been reported. Other occasional features include retinitis pigmentosa and coxa vara. Transmission appears to be autosomal recessive." "" + "Wolcott-Rallison syndrome" "Wolcott-Rallison syndrome (WRS) is a very rare genetic disease, characterized by permanent neonatal diabetes mellitus (PNDM) with multiple epiphyseal dysplasia and other clinical manifestations, including recurrent episodes of acute liver failure." "" + "epithelial squamous dysplasia, keratinizing desquamative, of urinary tract" "" + "immunodeficiency 32B" "A rare progressive disease that begins as a primary Epstein-Barr virus (EBV) infection. In this type of infection, the body makes too many lymphocytes (lymphoproliferative disease) for a period of more than 6 months duration. Lymphocytes are a type of white blood cell. They are an importantpart ofthe immune system because they help fight off diseases and protect the body from infection byproducing antibodies against viruses or bacteria and regulating immune responses. In CAEBV there are many antibodies againstEBV in the blood.Most people (about 95% of adults) get infected with EBV at some point in their lives, and never have any health problems.However, EBV can cause infectiousmononucleosis and other illnesses, and has a role in various autoimmune diseases and some types of cancer. While most infections occurring during childhood do not cause any symptoms,EBV infection in adolescents or young adults can often result in mononucleosis.After an EBV infection, the virus becomes latent (inactive) in the body, and, in some cases, the virus may reactivate. This does not always cause symptoms, but people with weakened immune systems are more likely to develop symptoms if EBV reactivates.In rare cases, people infected with EBV develop chronic active EBV virus infection(CAEBV) without apparent immunodeficiency. Most cases of CAEBV have been reported from Japan. These patientshave some of the complications found in otherwise-healthy patients with acute EBV infection, but unlike healthy patients, these complications persist and progress. Symptoms of CAEBV most often include fever, liverdysfunction, an enlarged spleen (splenomegaly), swollen lymph nodes (lymphadenopathy), and low numbers of platelets (thrombocytopenia) as well as high EBV-DNA load in the blood. Other features that appear in more than 10% of patients include enlarged liver (hepatomegaly), anemia, hypersensitivity to mosquito bites, rash, oral ulcers, hemophagocytic syndrome, coronary artery aneurysms, liver failure, lymphoma, and interstitial pneumonia. While the cause is yet unknown, researchers have identified defects in T cells or natural killer (NK) cells activity which results in a decreased defense against the EBV in people with CAEBV.It is important to note that the fatigue and malaise from acute infectious mononucleosis (IM)varies from mild symptoms lasting only a few weeks, to more severe symptoms of fatigue that can persist for several months, or even up to a year or more in up to 10% of patients (which may be considered a less severe form of chronicEBV infection). The persistence of fatigue that is seen in some patients after acute IM would lead some people to believe that EBV may also cause cases of chronic fatigue syndrome (CFS). However, no convincing link has been found between EBV and CFS.Hematopoietic stemcell transplantation has shown promise in the treatment of CAEBV." "" + "erythema of acral regions" "" + "ermine phenotype" "Cutaneous albinism-ermine phenotype is characterised by the association of white hair with black tufts, depigmented skin and sensorineural deafness. It has been described in two pairs of siblings and one individual case. The depigmentation may present as vitiligo, or be spotted with brown patches. Nystagmus, photophobia, retinal depigmentation and intellectual deficit were also reported in one pair of siblings. An autoimmune mechanism or failure of melanocyte migration may be responsible for the disease." "" + "transient erythroblastopenia of childhood" "An acquired pure red cell aplasia that is self-limited. It is the most common cause of decreased red blood cell production in the pediatric population, and typically presents as a normocytic anemia with reticulocytopenia in an otherwise asymptomatic and normal child with no evidence of other causes for anemia, including blood loss, hemolysis, nutritional deficiency, or malignancy." "" + "primary acquired red cell aplasia" "" + "congenital lethal erythroderma" "A rare skin disorder characterized by erythrodermic, peeling skin from birth with no obvious nail or hair-shaft abnormalities and other associated anomalies including diarrhea, failure to thrive and severe hypoalbuminaemia resistant to correction by enteral or intravenous supplementation. An autosomal recessive mode of inheritance is highly probable. The prognosis is poor and infants die in the first months of life. There have been no further descriptions in the literature since 1992." "" + "ethanolaminosis" "" + "eyebrow duplication-syndactyly syndrome" "Eyebrow duplication-syndactyly syndrome is characterised by partial duplication of the eyebrows and syndactyly of the fingers and toes. It has been described in three patients (a brother and sister and an isolated case). Skin hyperelasticity, hypertrichosis and long eyelashes, and abnormal periorbital wrinkling were also reported in some of the patients. Transmission is autosomal recessive." "" + "facial abnormalities, kyphoscoliosis, and intellectual disability" "" + "Thakker-Donnai syndrome" "" + "focal facial dermal dysplasia type III" "Focal facial dermal dysplasia type III (FFDD3) is a rare focal facial facial dysplasia (FFDD), characterized primarily by congenital bitemporal scar-like depressions and a typical, but variable facial dysmorphism, which may include distichiasis (upper lids) or lacking eyelashes, slanted eyebrows and a flattened and/or bulbous nasal tip and other features such as a low frontal hairline, sparse hair, redundant skin, epicanthal folds, low-set dysplastic ears, blepharitis and conjunctivitis." "" + "lethal faciocardiomelic dysplasia" "Lethal faciocardiomelic dysplasia is an extremely rare polymalformative syndrome." "" + "faciocardiorenal syndrome" "Faciocardiorenal syndrome is a very rare syndrome characterized by intellectual deficit, horseshoe kidney, and congenital heart defects." "" + "factor V and factor VIII, combined deficiency of, type 1" "Any combined deficiency of factor V and factor VIII in which the cause of the disease is a mutation in the LMAN1 gene." "" + "combined deficiency of factor V and factor VIII" "Combined deficiency of factor V and factor VIII is an inherited bleeding disorder due to the reduction in activity and antigen levels of both factor V (FV) and factor VIII (FVIII) and characterized by mild-to-moderate bleeding symptoms." "" + "factor V and factor VIII, combined deficiency of, with normal protein C and protein C inhibitor" "" + "faciothoracogenital syndrome" "" + "autosomal recessive faciodigitogenital syndrome" "Autosomal recessive facio-digito-genital syndrome is a very rare syndrome including short stature, facial dysmorphism, hand abnormalities and shawl scrotum." "" + "congenital factor V deficiency" "Congenital factor V deficiency is an inherited bleeding disorder due to reduced plasma levels of factor V (FV) and characterized by mild to severe bleeding symptoms." "" + "factor V deficiency" "A coagulation disorder characterized by the partial or complete absence of factor V activity in the blood." "" + "hemorrhagic disorder due to a coagulation factors defect" "True" + "congenital factor VII deficiency" "Factor VII (FVII) deficiency is a rare hereditary hemorrhagic disease caused by the diminution or absence of this coagulation factor." "" + "congenital vitamin K-dependent coagulation factors deficiency" "Congenital vitamin K-dependent coagulation factors deficiency involving multiple coagulation factors." "" + "congenital factor X deficiency" "Congenital factor X deficiency is an inherited bleeding disorder with a decreased antigen and/or activity of factor X (FX) and characterized by mild to severe bleeding symptoms." "" + "Fanconi anemia complementation group C" "Fanconi anemia caused by mutations of the FANCC gene. This gene provides instructions for making a protein that delays the onset of apoptosis and promotes homologous recombination repair of damaged DNA." "" + "Fanconi anemia" "Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors." "" + "Fanconi anemia complementation group D2" "Fanconi anemia caused by mutations of the FANCD2 gene. This gene is involved in the repair of DNA double-strand breaks, both by homologous recombination and single-strand annealing." "" + "Fanconi anemia complementation group A" "Fanconi anemia caused by mutations of the FANCA gene. FANCA gene mutations are the most common cause of Fanconi anemia. This gene provides instructions for making a protein that is involved in the Fanconi anemia (FA) pathway." "" + "glycogen storage disease due to GLUT2 deficiency" "Fanconi-Bickel glycogenosis (FBG) is a rare glycogen storage disease characterized by hepatorenal glycogen accumulation, severe renal tubular dysfunction and impaired glucose and galactose metabolism." "" + "Fanconi-like syndrome" "A syndrome characterized by pancytopenia, immune deficiency and cutaneous malignancies." "" + "Farber lipogranulomatosis" "A rare sphingolipid disorder characterized by a spectrum of clinical signs ranging from the classical triad of painful and progressively deformed joints, subcutaneous nodules, and progressive hoarseness (due to laryngeal involvement) that presents in infancy, to varying phenotypes with respiratory and neurologic involvement." "" + "fascial dystrophy, congenital" "" + "visceral steatosis, congenital" "" + "femur-fibula-ulna complex" "Femur-fibula-ulna (FFU) complex is a non-lethal congenital anomaly of unknown etiology, more frequently reported in males than females, characterized by a highly variable combination of defects of the femur, fibula, and/or ulna, with striking asymmetry, including absence of the proximal part of the femur, absence of the fibula and malformation of the ulnar side of the upper limb. Axial skeleton, internal organs and intellectual function are usually normal." "" + "Gollop-Wolfgang complex" "Gollop-Wolfgang complex is a very rare malformation characterized by ectrodactyly of the hand and ipsilateral bifurcation of the femur." "" + "hypogonadotropic hypogonadism 23 with or without anosmia" "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the LHB gene." "" + "Leydig cell hypoplasia" "Leydig cell hypoplasia (LCH) is a condition in males that affects sexual development. It is characterized by underdevelopment of the Leydig cells, which are cells in the testes that secrete male sex hormones (androgens) and are important for male sexual development. Individuals with LCH have a typical male genetic make-up (46, XY), but due to lowered levels of androgens, may have a range of genital (reproductive organ) differences. Individuals with LCH may have a small penis (micropenis),the opening of the urethra may be located on the underside of the penis (hypospadias), or the scrotum may be divided into two halves (bifid scrotum). Given these differences in development, the external genitalia may not appear clearly male or female (ambiguous genitalia). Some individuals with LCH can have female external genitalia and small testes that have not descended and are located in the pelvis, abdomen, or groin. This may be referred to as type 1, whereas less severe cases might be called type 2. LCH is inherited in an autosomal recessive manner and is caused by mutations in the LHCGR gene.Although there is no specific treatment or cure for LCH, there may be ways to manage the symptoms. A team of doctors or specialists is often needed to figure out the treatment options for each person." "" + "fetal iodine syndrome" "Fetal iodine syndrome refers to symptoms and signs that may be observed in a fetus or newborn when the mother was exposed during pregnancy to inappropriate (insufficient or excessive) amounts of iodine. Iodine deficiency is associated with goiter and hypothyroidism. When severe iodine deficiency occurs during pregnancy, it is associated with congenital hypothyroidism that is manifested by increased neonatal morbi-mortality and severe mental dysfunction, hyperactivity, attention disorders and a substantial decrease of IQ of an irreversible nature. Excessive iodine ingestion during the third trimester of pregnancy can result in hypothyroidism and fetal goiter due to a prolonged inhibition of thyroid hormone synthesis, an increase in thyrotropin (TSH)." "" + "teratogenic Pierre Robin syndrome" "" + "transient congenital hypothyroidism due to maternal factor" "" + "toxic or drug-related embryofetopathy" "Congenital abnormalities caused by medicinal substances or drugs of abuse given to or taken by the mother, or to which she is inadvertently exposed during the manufacture of such substances. The concept excludes abnormalities resulting from exposure to non-medicinal chemicals in the environment." "" + "fever, familial lifelong persistent" "" + "fibrochondrogenesis 1" "Any fibrochondrogenesis in which the cause of the disease is a mutation in the COL11A1 gene." "" + "fibrochondrogenesis" "Fibrochondrogenesis is a rare, neonatally lethal, rhizomelic chondrodysplasia. Eleven cases have been reported. The face is distinctive and characterized by protuberant eyes, flat midface, flat small nose with anteverted nares and a small mouth with long upper lip. Cleft palate, micrognathia and bifid tongue can occur. The limbs show marked shortness of all segments with relatively normal hands and feet. No internal anomalies other than omphalocele have been reported. Transmission is probably autosomal recessive. Recurrence in a consanguineous family (affecting both sexes) and concordance of affected male twins have been reported." "" + "myofibromatosis, infantile, 1" "Any myofibromatosis in which the cause of the disease is a mutation in the PDGFRB gene." "" + "infantile myofibromatosis" "A benign, multifocal, nodular and well-circumscribed neoplasm usually seen as a congenital neoplasm or in the first year of life. It is characterized by a biphasic growth pattern and is composed of small, undifferentiated mesenchymal cells associated with branching thin-walled vessels and more mature neoplastic spindle cells with abundant eosinophilic cytoplasm in a collagenous stroma." "" + "gingival fibromatosis-facial dysmorphism syndrome" "Gingival fibromatosis - facial dysmorphism is a very rare syndrome characterized by the association of gingival fibromatosis and craniofacial dysmorphism." "" + "hyaline fibromatosis syndrome" "" + "fibrosclerosis, multifocal" "" + "IgG4-related retroperitoneal fibrosis" "Retroperitoneal fibrosis (RPF) is characterized by the development of a fibrotic mass surrounding retroperitoneal structures, such as aorta, vena cava, ureters and psoas muscle." "" + "fibular hypoplasia and complex brachydactyly" "" + "Fuhrmann syndrome" "Fuhrmann syndrome is mainly characterized by bowing of the femora, aplasia or hypoplasia of the fibulae and poly-, oligo-, and syndactyly." "" + "Fibulo-ulnar hypoplasia-renal anomalies syndrome" "Fibulo-ulnar hypoplasia-renal anomalies syndrome is characterized by fibuloulnar dysostosis with renal anomalies. It has been described in two sibs born to nonconsanguinous parents. The syndrome is lethal at birth (respiratory failure). Clinical manifestations include ear and facial anomalies (including micrognathia), symmetrical shortness of long bones, fibular agenesis and hypoplastic ulna, oligosyndactyly, congenital heart defects, and cystic or hypoplastic kidney. It is transmitted as an autosomal recessive trait." "" + "congenital high-molecular-weight kininogen deficiency" "A rare autosomal recessive inherited disorder characterized by prolonged partial thromboplastin time and absence of bleeding diathesis." "" + "familial benign flecked retina" "Familial benign flecked retina is a rare retinal dystrophy characterized by diffuse bilateral white-yellow fleck-like lessions extending to the far periphery of the retina but sparing the foveal region, with asymptomatic clinical phenotype and absence of electrophysiologic deficits." "" + "Kandori fleck retina" "Kandori fleck retina is a rare, genetic retinal dystrophy characterized by irregular, sharply defined, yellowish-white lesions of variable size that are distributed mainly in the nasal equatorial region of the retina, with a tendency to confluence, that are not associated with any vascular or optic nerve abnormalities. They frequently manifest as mild and stationary night blindness." "" + "focal epithelial hyperplasia" "Hyperplasia characterized by the presence of a focal proliferation of epithelial cells." "" + "hereditary folate malabsorption" "Hereditary folate malabsorption (HFM) is an inherited disorder of folate transport characterized by a systemic and central nervous system (CNS) folate deficiency manifesting as megaloblastic anemia, failure to thrive, diarrhea and/or oral mucositis, immunologic dysfunction and neurological disorders." "" + "intestinal disease due to vitamin absorption anomaly" "" + "disorder of folate metabolism and transport" "" + "syndrome with combined immunodeficiency" "True" + "constitutional megaloblastic anemia due to folate metabolism disorder" "True" + "hypogonadotropic hypogonadism 24 without anosmia" "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FSHB gene." "" + "formiminoglutamic aciduria" "Formiminoglutamic aciduria, in its moderate form and in the absence of histidine administration, is characterized by mild developmental delay and elevated concentrations of formiminoglutamate (FIGLU) in the urine. A more severe phenotype has been described in five members of a Japanese family and included severe intellectual deficit, psychomotor retardation and megaloblastic anemia." "" + "fountain syndrome" "Fountain syndrome is an extremely rare multi-systemic genetic disorder characterized by intellectual disability, deafness, skeletal abnormalities and coarse facial features." "" + "brittle cornea syndrome" "Brittle cornea syndrome is a form of Ehlers-Danlos syndrome characterized by a severe ocular manifestations due to extreme corneal thinning and fragility with rupture in the absence of significant trauma, and progression to blindness. Extraocular manifestations comprise deafness, developmental hip dysplasia, and joint hypermobility." "" + "Fraser-like syndrome" "" + "Freesia Flowers, inability to smell" "" + "obsolete Friedreich ataxia" "" "true" + "Friedreich ataxia and congenital glaucoma" "" + "frontofacionasal dysplasia" "Fronto-facio-nasal dysostosis is characterized by multiple craniofacial anomalies (brachycephaly, blepharophimosis, ptosis, S-shaped palpebral fissures, coloboma, cleft lip and palate, deformed nostrils, encephalocele, hypertelorism, midface hypoplasia, malformed eyes, and absent inner eyelashes)." "" + "fructose and galactose intolerance" "" + "hereditary fructose intolerance" "Hereditary fructose intolerance (HFI) is an autosomal recessive disorder of fructose metabolism, resulting from a deficiency of hepatic fructose-1-phosphate aldolase activity and leading to gastrointestinal disorders and postprandial hypoglycemia following fructose ingestion. HFI is a benign condition when treated, but it is life-threatening and potentially fatal if left untreated." "" + "disorder of fructose metabolism" "" + "fructose utilization" "" + "fructose-1,6-bisphosphatase deficiency" "Fructose-1,6-biphosphatase (FBP) deficiency is a disorder of fructose metabolism characterized by recurrent episodes of fasting hypoglycemia with lactic acidosis, that may be life-threatening in neonates and infants." "" + "gluconeogenesis disorder" "An acquired metabolic disease that is has its basis in the disruption of gluconeogenesis." "" + "essential fructosuria" "Essential fructosuria is a rare autosomal recessive disorder of fructose metabolism caused by a deficiency of fructokinaseenzyme activity. It is characterized by elevated fructosemia and presence of fructosuria following ingestion of fructose and related sugars (sucrose, sorbitol). Essential fructosuria is clinically asymptomatic and harmless. Dietary restriction is not indicated." "" + "Fryns syndrome" "Fryns syndrome (FS) is a multiple congenital anomaly syndrome characterized by dysmorphic facial features, congenital diaphragmatic hernia, pulmonary hypoplasia, and distal limb hypoplasia, in addition to variable expression of additional malformations." "" + "fucosidosis" "Fucosidosis is an extremely rare lysosomal storage disorder characterized by a highly variable phenotype with common manifestations including neurologic deterioration, coarse facial features, growth retardation, and recurrent sinopulmonary infections, as well as seizures, visceromegaly, angiokeratoma and dysostosis." "" + "lysosomal disease with hypertrophic cardiomyopathy" "True" + "galactokinase deficiency" "Galactokinase deficiency is a rare mild form of galactosemia characterized by early onset of cataract and an absence of the usual signs of classic galactosemia, i.e. feeding difficulties, poor weight gain and growth, lethargy, and jaundice." "" + "galactosemia" "Galactosemia is a group of rare genetic metabolic disorders characterized by impaired galactose metabolism resulting in a range of variable manifestations encompassing a severe, life-threatening disease (classic galactosemia), a rare mild form (galactokinase deficiency) causing cataract, and a very rare form with variable severity (galactose epimerase deficiency) resembling classic galactosemia in the severe form." "" + "galactorrhea" "Excessive or inappropriate lactation in females or males, and not necessarily related to pregnancy. Galactorrhea can occur either unilaterally or bilaterally, and be profuse or sparse. Its most common cause is hyperprolactinemia." "" + "galactose epimerase deficiency" "Galactose epimerase deficiency is a very rare, moderate to severe form of galactosemia characterized by moderate to severe signs of impaired galactose metabolism." "" + "classic galactosemia" "Classic galactosemia is a life-threatening metabolic disease with onset in the neonatal period. Infants usually develop feeding difficulties, lethargy, and severe liver disease." "" + "gamma-glutamylcysteine synthetase deficiency" "Gamma-glutamylcysteine synthetase deficiency is principally characterized by hemolytic anemia, (usually rather mild), however, the presence of neurological symptoms has also been reported." "" + "hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies" "True" + "inherited glutathione metabolism disease" "An acquired metabolic disease that is has its basis in the disruption of glutathione metabolic process." "" + "GM1 gangliosidosis type 1" "GM1 gangliosidosis type 1 is the severe infantile form of GM1 gangliosidosis with variable neurological and systemic manifestations." "" + "GM1 gangliosidosis" "A rare lysosomal storage disorder characterized biochemically by deficient beta-galactosidase activity and clinically by a wide range of variable neurovisceral, ophthalmological and dysmorphic features." "" + "GM1 gangliosidosis type 2" "GM1 gangliosidosis type 2 is a clinically variable, infancy or childhood-onset form of GM1 gangliosidosis characterized by normal early development and psychomotor regression between seven months and three years of age." "" + "GM1 gangliosidosis type 3" "GM1 gangliosidosis type 3 is a mild, chronic, adult form of GM1 gangliosidosis characterized by onset generally during childhood or adolescence and by cerebellar dysfunction." "" + "gapo syndrome" "GAPO syndrome is a multiple congenital anomalies (MCA) syndrome involving connective tissue characterized by Growth retardation, Alopecia, Pseudoanodontia and Ocular manifestations" "" + "gastroschisis" "Gastroschisis is marked by viscera protruding, without a covering sac, from the fetal abdomen on the right lateral base of the umbilicus. It is due to defective embryo growth and other malformations are only exceptionally associated." "" + "primary short bowel syndrome" "" + "Gaucher disease type I" "Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD) characterized by organomegaly, bone involvement and cytopenia." "" + "lysosomal disease with restrictive cardiomyopathy" "True" + "secondary interstitial lung disease in childhood and adulthood associated with a metabolic disease" "True" + "Gaucher disease" "Gaucher disease (GD) is a lysosomal storage disorder encompassing three main forms (types 1, 2 and 3), a fetal form and a variant with cardiac involvement (Gaucher disease - ophthalmoplegia - cardiovascular calcification or Gaucher-like disease)." "" + "secondary avascular necrosis" "" + "avascular necrosis of genetic origin" "An instance of avascular necrosis that is caused by a modification of the individual's genome." "" + "Gaucher disease type II" "Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2." "" + "secondary interstitial lung disease specific to childhood associated with a metabolic disease" "True" + "Gaucher disease type III" "Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1." "" + "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome" "Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement." "" + "geleophysic dysplasia 1" "Any geleophysic dysplasia in which the cause of the disease is a mutation in the ADAMTSL2 gene." "" + "genito-palato-cardiac syndrome" "Genitopalatocardiac syndrome is a rare, multiple congenital anomalies/dysmorphic syndrome characterized by male, 46,XY gonadal dysgenesis, cleft palate, micrognathia, conotruncal heart defects and unspecific skeletal, brain and kidney anomalies." "" + "geroderma osteodysplastica" "Geroderma osteodysplastica (GO) is characterized by lax and wrinkled skin (especially on the dorsum of the hands and feet and abdomen), progeroid features, hip dislocation, joint laxity, severe short stature/dwarfism, severe osteoporosis, vertebral abnormalities and spontaneous fractures, and developmental delay and mild intellectual deficit." "" + "German syndrome" "German syndrome is an autosomal recessive arthrogryposis syndrome, described in 5 cases. Three of the four known families with affected children were Ashkenazi Jews. German syndrome is characterized by arthrogryposis, hypotonia-hypokinesia sequence, and lymphedema. Patients present distinct craniofacial appearance (tall forehead and ''carp''-shaped mouth, cleft palate), contractures, severe hypotonia manifesting as motor delay, and swallowing difficulties. The disease has a severe morbidity and mortality rate and survivors present a small stature, hypotonia, frequent upper respiratory infections, and psychomotor delay. There have been no further descriptions in the literature since 1987." "" + "fetal trimethadione syndrome" "Fetal trimethadione syndrome is a drug-related embryofetopathy that can occur when an embryo/fetus is exposed to trimethadione and that is characterized by pre- and post-natal growth retardation, intellectual deficit, developmental and speech delay, craniofacial anomalies (with some similarities to those seen in fetal valproate syndrome), and less commonly, cleft palate, malformations of the heart, urogenital system and limbs. Trimethadione is an antiepileptic drug that has been removed from the market in Europe and is no longer used much in other countries due to teratogenicity and potential side effects." "" + "hydatidiform mole, recurrent, 1" "Any complete hydatidiform mole in which the cause of the disease is a mutation in the NLRP7 gene." "" + "complete hydatidiform mole" "Complete hydatidiform mole is a type of hydatiform mole characterized by abnormal hyperplastic trophoblasts and hydropic villi due to fertilization of an enucleated ovocyte by one or two haploid spermatozoa that can manifest with vaginal bleeding accompanied by nausea and frequent vomiting, hyperemesis gravidarum, risk of spontaneous miscarriage, hyperthyroidism, and has the potential of developing into choriocarcinoma." "" + "gestational trophoblastic neoplasm" "A diverse group of pregnancy-related tumors characterized by excessive proliferation of trophoblasts. Representative examples include hydatidiform mole, gestational choriocarcinoma, and placental site trophoblastic tumor." "" + "ghosal hematodiaphyseal dysplasia" "Ghosal hematodiaphyseal dysplasia syndrome (GHDD) is a rare disorder characterized by increased bone density (predominantly diaphyseal) and aregenerative corticosteroid-sensitive anemia." "" + "neonatal hemochromatosis" "Neonatal hemochromatosis is a disease in which too much iron builds up inthe body. In this form of hemochromatosis the iron overload begins before birth. This disease tends to progress rapidly and is characterized by liver damage that is apparent at birth or in the first day of life. There are a number of other forms of hemochromatosis. To learn more about these other forms click on the disease names listed below: Hemochromatosis type 1 Hemochromatosis type 2 Hemochromatosis type 3 Hemochromatosis type 4" "" + "isolated hereditary giant platelet disorder" "" + "glaucoma 3A" "An autosomal recessive form of congenital glaucoma caused by mutation(s) in the CYP1B1 gene, encoding cytochrome P450 1B1." "" + "hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency" "Hyperinsulinism due to short chain 3 hydroxylacyl-CoA dehydrogenase (SCHAD) deficiency is a recently described mitochondrial fatty acid oxidation disorder characterized by hyperinsulinemic hypoglycemia with seizures, and in one case fulminant hepatic failure." "True" + "diazoxide-sensitive diffuse hyperinsulinism" "" + "3-hydroxyacyl-CoA dehydrogenase deficiency" "" + "triple-A syndrome" "Triple A syndrome is a very rare multisystem disease characterized by adrenal insufficiency with isolated glucocorticoid deficiency, achalasia, alacrima, autonomic dysfunction and neurodegeneration." "" + "monosodium glutamate sensitivity" "" + "glutaryl-CoA dehydrogenase deficiency" "Glutaryl-CoA dehydrogenase (GCDH) deficiency (GDD) is an autosomal recessive neurometabolic disorder clinically characterized by encephalopathic crises resulting in striatal injury and a severe dystonic dyskinetic movement disorder." "" + "multiple acyl-CoA dehydrogenase deficiency" "A disorder of fatty acid and amino acid oxidation, caused by mutations in ETFDH, ETFA, or ETFB, and is a clinically heterogeneous disorder ranging from a severe neonatal presentation with metabolic acidosis, cardiomyopathy and liver disease, to a mild childhood/adult disease with episodic metabolic decompensation, muscle weakness, and respiratory failure." "" + "glutaric acidemia type 3" "Glutaryl-CoA oxidase deficiency is a peroxisomal disorder leading to glutaric aciduria. The prevalence is unknown. There is no distinctive phenotype associated with this disorder and one of the reported cases was asymptomatic. Transmission appears to be autosomal recessive." "" + "glutathione synthetase deficiency without 5-oxoprolinuria" "" + "inherited glutathione synthetase deficiency" "Glutathione synthetase deficiency is characterised by hemolytic anemia, associated with metabolic acidosis and 5-oxoprolinuria in moderate forms, and with progressive neurological symptoms and recurrent bacterial infections in the most severe forms." "" + "gamma-glutamyl transpeptidase deficiency" "Gamma-glutamyl transpeptidase deficiency is characterized by increased glutathione concentration in the plasma and urine." "" + "inborn disorder of the gamma-glutamyl cycle" "" + "gluteal muscles, absence of" "" + "glycogen storage disease due to glucose-6-phosphatase deficiency type IA" "Glycogenosis due to glucose-6-phosphatase deficiency (G6P) type a, or glycogen storage disease (GSD) type 1a, is a type of glycogenosis due to G6P deficiency." "" + "glycogen storage disease Ib" "A type of glycogenosis due to G6P deficiency." "" + "glycogen storage disease type 1 due to SLC37A4 mutation" "Any glycogen storage disease due to glucose-6-phosphatase deficiency in which the cause of the disease is a mutation in the SLC37A4 gene." "" + "obsolete glycogen storage disease IC" "" "true" + "glycogen storage disease II" "Glycogen storage disease due to acid maltase deficiency (AMD) is an autosomal recessive trait leading to metabolic myopathy that affects cardiac and respiratory muscles in addition to skeletal muscle and other tissues. AMD represents a wide spectrum of clinical presentations caused by an accumulation of glycogen in lysosomes: Glycogen storage disease due to acid maltase deficiency, infantile onset, non-classic infantile onset and adult onset. Early onset forms are more severe and often fatal." "" + "muscular glycogenosis" "" + "glycogen storage disease with hypertrophic cardiomyopathy" "True" + "lysosomal glycogen storage disease" "" + "glycogen storage disease III" "Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy." "" + "glycogen storage disease due to glycogen branching enzyme deficiency" "Glycogen branching enzyme (GBE) deficiency (Andersen's disease or amylopectinosis), or glycogen storage disease type 4 (GSD4), is a rare and severe form of glycogen storage disease which accounts for approximately 3% of all the glycogen storage diseases." "" + "glycogen storage disease V" "Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5), is a severe form of glycogen storage disease characterized by exercise intolerance." "" + "glycogen storage disease VI" "Liver phosphorylase deficiency, or glycogen storage disease type 6b (Hers' disease, GSD 6b) is a benign and rare form of glycogen storage disease." "" + "glycogen storage disease VII" "Muscle phosphofructokinase (PFK) deficiency (Tarui's disease), or glycogen storage disease type 7 (GSD7), is a rare form of glycogen storage disease characterized by exertional fatigue and muscular exercise intolerance. It occurs in childhood." "" + "glycoprotein storage disease" "" + "familial renal glucosuria" "Familial Renal Glucosuria (FRG) is characterized by the presence of persistent isolated glucosuria in the absence of both generalized proximal tubular dysfunction and hyperglycemia. FRG is usually considered a benign entity as most patients are not affected by severe clinical consequences. Polyuria and enuresis and later a mild growth and pubertal maturation delay are the only manifestations that have been reported during a follow-up period of 30 years. Episodic dehydration and ketosis during pregnancy and starvation and an increased incidence of urinary tract infections have occasionally been reported in severe cases. FRG is caused by loss-of-function mutations in the gene SLC5A2 (16p11.2)." "" + "GOMBO syndrome" "" + "46 XX gonadal dysgenesis" "46,XX gonadal dysgenesis (46,XX GD) is a primary ovarian defect leading to premature ovarian failure (POF) in otherwise normal 46,XX females as a result of failure of the gonads to develop or due to resistance to gonadotrophin stimulation." "" + "46,XX disorder of gonadal development" "" + "female infertility due to gonadal dysgenesis" "True" + "Perrault syndrome 1" "Any Perrault syndrome in which the cause of the disease is a mutation in the HSD17B4 gene." "" + "Perrault syndrome" "Perrault syndrome (PS) is characterized by the association of ovarian dysgenesis in females with sensorineural hearing impairment. In more recent PS reports, some authors have described neurologic abnormalities, notably progressive cerebellar ataxia and intellectual deficit." "" + "46,XY sex reversal 7" "" + "XY type gonadal dysgenesis-associated anomalies syndrome" "Gonadal dysgenesis with multiple anomalies is an association syndrome described only once in two sisters aged 1 1/2 and 8 1/2 years. They had a 46,XY karyotype, cleft lip and palate, preauricular pits, and a 'squashed down' appearance because of a short columella and small nares. Other anomalies included broad hands and feet, and a hypermuscular appearance. Cardiac, renal, musculoskeletal, and ectodermal anomalies were also present. Ectodermal defects included 'punched out scalp defects' and unusual positioning of hair whorls. They also had short stature, streak gonads, and mild developmental delay. The mode of inheritance is most likely autosomal recessive." "" + "anti-glomerular basement membrane disease" "An autoimmune disease that affects the lungs and kidneys and is characterized by pulmonary alveolar hemorrhage (bleeding in the lungs) and a kidney disease known as glomerulonephritis. Some use the term 'Goodpasture syndrome' for the findings of glomerulonephritis and pulmonary hemorrhage and the term 'Goodpasture disease' for those patients with glomerulonephritis, pulmonary hemorrhage, and anti-GBM antibodies. Currently, the preferred term for both conditions is “ anti-GBM antibody disease ”. Circulating antibodies are directed against the collagen of the part of the kidney known as the glomerular basement membrane (GBM), resulting in acute or rapidly progressive glomerulonephritis. Antibodies also attack the collagen of the air sacs of the lung (alveoli) resulting in bleeding of the lung (pulmonary hemorrhage). Symptoms may include general body discomfort or pain, bleeding from the nose and/or blood in the urine, respiratory problems, anemia, chest pain, and kidney failure. Anti-GBM disease is thought to result from an environmental insult (smoking, infections, exposure to certain drugs) in a person with genetic susceptibility, such as a specific human leukocyte antigen (HLA) type. Diagnosis is confirmed with the presence of anti-GBM antibody in the blood or in the kidney. The treatment of choice is plasmapheresis in conjunction with prednisone and cyclophosphamide." "" + "predominantly small-vessel vasculitis" "" + "secondary interstitial lung disease in childhood and adulthood associated with a systemic disease" "True" + "obsolete Gorlin-Chaudhry-Moss syndrome" "" "true" + "granulocytopenia with immunoglobulin abnormality" "" + "combined immunodeficiency with skin granulomas" "" + "granulomatous disease with defect in neutrophil chemotaxis" "" + "chronic granulomatous disease" "Chronic granulomatous disease (CGD) is a rare primary immunodeficiency, mainly affecting phagocytes, which is characterized by an increased susceptibility to severe and recurrent bacterial and fungal infections, along with the development of granulomas." "" + "granulomatous disease, chronic, autosomal recessive, cytochrome b-negative" "" + "granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1" "Any chronic granulomatous disease in which the cause of the disease is a mutation in the NCF1 gene." "" + "granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2" "Any chronic granulomatous disease in which the cause of the disease is a mutation in the NCF2 gene." "" + "grouped pigmentation of the retina" "" + "lipodystrophy due to peptidic growth factors deficiency" "Deficiency of the peptidic growth factors is characterized by loss of subcutaneous fat layers on the limbs, lipodystrophy in the face and trunk and scleroderma-like skin disorders (thickened skin on the palms and soles and skin pigment changes on the limbs and trunk)." "" + "Grubben-de Cock-Borghgraef syndrome" "Grubben-de Cock-Borghgraef syndrome is a rare intellectual disability syndrome characterized by pre- and postnatal growth deficiency, generalized muscular hypotonia, developmental delay (particularly of speech and language), hypotrophy of distal extremities, small and puffy hands and feet, eczematous skin and dental anomalies (i.e. small, widely-spaced teeth). Partial agenesis of the corpus callosum and a selective immunoglobulin IgG2 subclass deficiency have also been reported in some patients." "" + "obsolete GTP-cyclohydrolase I deficiency" "" "true" + "congenital factor XII deficiency" "Congenital factor XII deficiency is an autosomal recessive systemic dysfunction of the hemostatic pathway, that is due to a defect in the coagulation factor XII (FXII or Hageman factor), and is either asymptomatic or characterized by a prolonged activated partial thromboplastin time and an increased risk for thromboembolism. FXII deficiency is strongly associated with primary recurrent abortions." "" + "hair defect-photosensitivity-intellectual disability syndrome" "Calderon-Gonzalez-Cantu syndrome is characterized by the association of stubby, coarse, sparse and fragile hair, eyebrows and eyelashes with photosensitivity and nonprogressive intellectual deficit without a demonstrable metabolic aberration." "" + "obsolete nonphotosensitive trichothiodystrophy" "A trichothiodystrophy that is non-photosensitive" "" "true" + "Hallermann-Streiff syndrome" "Hallermann-Streiff syndrome is a rare genetic syndrome characterized mainly by head and facial abnormalities such as bird-like facies (with beak-shaped nose and retrognathia), hypoplastic mandible, brachycephaly with frontal bossing, dental abnormalities (e.g. absence of teeth, natal teeth, supernumerary teeth, severe agenesis of permanent teeth, enamel hypoplasia) hypotrichosis, various ophthalmic disorders (e.g. congenital cataracts, bilateral microphthalmia, ptosis, nystagmus) and atrophy of skin (especially around the center of face and nose) as well as telangiectasia and proportionate short stature. Intellectual disability is reported in some cases." "" + "obsolete congenital absence of the eyebrow/eyelashes" "" "true" + "obsolete craniofacial anomaly with cataract" "" "true" + "pantothenate kinase-associated neurodegeneration" "Pantothenate kinase-associated neurodegeneration (PKAN) is the most common type of neurodegeneration with brain iron accumulation (NBIA), a rare neurodegenerative disorder characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation on the brain and axonal spheroids in the central nervous system." "" + "disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement" "True" + "neurodegeneration with brain iron accumulation" "Neurodegeneration with brain iron accumulation (NBIA, formerly Hallervorden-Spatz syndrome) encompasses a group of rare neurodegenerative disorders characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation in the brain and the presence of axonal spheroids, usually limited to the central nervous system." "" + "Hall-Riggs syndrome" "Hall-Riggs syndrome is a very rare syndrome consisting of microcephaly with facial dysmorphism, spondylometaepiphyseal dysplasia and severe intellectual deficit." "" + "hallux varus-preaxial polysyndactyly syndrome" "Hallux varus-preaxial polysyndactyly syndrome is a rare, genetic, congenital limb malformation disorder characterized by bilateral medial displacement of the hallux and preaxial polysyndactyly of the first toes. Radiographs show broad, shortened, misshapen first metatarsals and may associate incomplete or complete duplication of proximal phalanges and duplication or triplication of distal phalanges. There have been no further descriptions in the literature since 1980." "" + "obsolete halo nevi" "" "true" + "Halothane hepatitis" "" + "Hartnup disease" "Hartnup disease is a rare metabolic disorder belonging to the neutral aminoacidurias and characterized by abnormal renal and gastrointestinal transport of neutral amino acids (tryptophan, alanine, asparagine, glutamine, histidine, isoleucine, leucine, phenylalanine, serine, threonine, tyrosine and valine)." "" + "disorder of neutral amino acid transport" "An acquired metabolic disease that is has its basis in the disruption of neutral amino acid transport." "" + "obsolete deafness-enamel hypoplasia-nail defects syndrome" "" "true" + "congenital heart block" "Heart block that occurs on or before 28 days of life." "" + "heart, malformation of" "" + "hemangiomatosis, cutaneous, with associated features" "" + "pulmonary venoocclusive disease 2" "A rare form of pulmonary arterial hypertension (PAH) characterized by a capillary infiltration of the pulmonary interstitium, bronchioles and pleura leading to elevated pulmonary arterial resistance and right heart failure. PCH is potentially fatal." "" + "pulmonary venoocclusive disease" "A disorder characterized by pulmonary venous constriction or occlusion, resulting in pulmonary hypertension." "" + "isolated hemihyperplasia" "Isolated hemihyperplasia is a rare overgrowth syndrome characterized by an asymmetric regional body overgrowth, involving at least one limb, and associated with an increased risk of developing embryonal tumors, principally nephroblastoma and hepoblastoma." "" + "mullerian derivatives-lymphangiectasia-polydactyly syndrome" "Mullerian derivatives-lymphangiectasia-polydactyly syndrome is characterised by prenatal linear growth deficiency, hypertrophied alveolar ridges, redundant nuchal skin, postaxial polydactyly and cryptorchidism. Mullerian duct remnants, lymphangiectasis, and renal anomalies are also present. Three cases have been described. A small penis was observed in two of these cases. The syndrome is likely to be an autosomal recessive or X-linked trait. All the reported patients died neonatally of hepatic failure." "" + "hemolytic anemia with thermal sensitivity of red cells" "" + "hemolytic uremic syndrome, atypical, susceptibility to, 1" "" + "atypical hemolytic-uremic syndrome" "Atypical hemolytic-uremic syndrome (aHUS) is a thrombotic microangiopathy characterized by mechanical hemolytic anemia, thrombocytopenia, and renal dysfunction." "" + "hemosiderosis, pulmonary, with deficiency of gamma-a globulin" "" + "Hennekam lymphangiectasia-lymphedema syndrome 1" "Any Hennekam syndrome in which the cause of the disease is a mutation in the CCBE1 gene." "" + "Hennekam syndrome" "Hennekam syndrome is characterised by the association of lymphoedema, intestinal lymphangiectasia, intellectual deficit and facial dysmorphism." "" + "hepatic veno-occlusive disease-immunodeficiency syndrome" "Hepatic veno-occlusive disease-immunodeficiency syndrome is characterized by the association of severe hypogammaglobulinemia, combined T and B cell immunodeficiency, absent lymph node germinal centers, absent tissue plasma cells and hepatic veno-occlusive disease." "" + "hepatic veno-occlusive disease" "Hepatic veno-occlusive disease (hepatic VOD) is a condition resulting from toxic injury to the hepatic sinusoidal capillaries that leads to obstruction of the small hepatic veins." "" + "congenital bile acid synthesis defect 2" "Congenital bile acid synthesis defect type 2 (BAS defect type 2) is an anomaly of bile acid synthesis characterized by severe and rapidly progressive cholestatic liver disease, and malabsorption of fat and fat-soluble vitamins." "" + "non-spherocytic hemolytic anemia due to hexokinase deficiency" "Nonspherocytic hemolytic anemia due to hexokinase deficiency (NSHA due to HK1 deficiency) is a very rare conditionmainly characterized by severe, chronic hemolysis, beginning in infancy. Approximately 20 cases of this condition have been described to date. Signs and symptoms of hexokinase deficiency are very similar to those of pyruvate kinase deficiency but anemia is generally more severe. Some affected individuals reportedly have had various abnormalities in addition to NSHA including multiple malformations, panmyelopathy, and latent diabetes.Itcan be caused by mutations in the HK1 gene and is inherited in an autosomal recessive manner. Treatment may include red cell transfusions for those with severe anemia." "" + "Mowat-Wilson syndrome" "Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly syndrome characterized by a distinct facial phenotype, intellectual disability, epilepsy, Hirschsprung disease (HSCR) and variable congenital malformations." "" + "monogenic epilepsy" "" + "Hirschsprung disease-hearing loss-polydactyly syndrome" "An extremely rare malformative association, described in only two siblings to date, and characterized by Hirschsprung disease (defined by the presence of an aganglionic segment of variable extent in the terminal part of the colon that leads to the symptoms of intestinal obstruction including constipation and abdominal distension), polydactyly of hands and/or feet, unilateral renal agenesis, hypertelorism and congenital deafness. There have been no further descriptions in the literature since 1988." "" + "intestinal motility disease" "A disease that has its basis in the disruption of intestinal motility." "" + "Hirschsprung disease with ulnar polydactyly, polysyndactyly of big toes, and ventricular septal defect" "" + "Hirschsprung disease-nail hypoplasia-dysmorphism syndrome" "Hirschsprung disease - nail hypoplasia - dysmorphism is a fatal malformative disorder that is characterized by Hirschsprung disease, hypoplastic nails, distal limb hypoplasia and minor craniofacial dysmorphic features (flat facies, upward slanting palpebral fissures, narrow philtrum, narrow, high arched palate, micrognathia, low set ears with abnormal helices). Hydronephrosis has also been reported. There have been no further descriptions of Hirschsprung disease - nail hypoplasia - dysmorphism syndrome in the literature since 1988." "" + "histidinemia" "Histidinemia is a rare metabolic disorder characterized by elevated histidine levels in blood, urine, and cerebrospinal fluid, generally with no clinical repercussions." "" + "inborn disorder of histidine metabolism" "An acquired metabolic disease that is has its basis in the disruption of histidine metabolic process." "" + "histidinuria due to a renal tubular defect" "" + "familial lipochrome histiocytosis" "" + "nodular lymphocyte predominant Hodgkin lymphoma" "A monoclonal B-cell neoplasm characterized by a nodular, or a nodular and diffuse proliferation of scattered large neoplastic cells known as popcorn or lymphocyte predominant cells (LP cells)- formerly called L&H cells for lymphocytic and/or histiocytic Reed-Sternberg cell variants. The LP cells lack CD15 and CD30 in nearly all instances. Patients are predominantly male, frequently in the 30-50 year age group. Most patients present with limited stage disease (localized peripheral lymphadenopathy, stage I or II). (WHO 2008)" "" + "holoprosencephaly 1" "The most severe form of holoprosencephaly in which there is a complete absence of midline forebrain division resulting in the presence of fused hemispheres and a single ventricle (alobar holoprosencephaly). It is mapped to chromosome 21q22." "" + "Holzgreve-Wagner-Rehder syndrome" "A syndrome characterized by Potter sequence, heart defect, cleft palate, polydactyly, and skeletal defects." "" + "classic homocystinuria" "Classical homocystinuria due to cystathionine beta-synthase (CbS) deficiency is characterized by the multiple involvement of the eye, skeleton, central nervous system, and vascular system." "" + "amino acid or protein metabolism disease with epilepsy" "True" + "homocystinuria due to methylene tetrahydrofolate reductase deficiency" "Homocystinuria due to methylene tetrahydrofolate reductase (MTHFR) deficiency is a metabolic disorder characterised by neurological manifestations." "" + "methylcobalamin deficiency type cblE" "An autosomal recessive condition caused by mutation(s) in the MTRR gene, encoding methionine synthase reductase. It is characterized by homocystinuria and megaloblastic anemia." "" + "homocystinuria without methylmalonic aciduria" "Homocystinuria without methylmalonic aciduria is an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, encephalopathy and, sometimes, developmental delay, and associated with homocystinuria and hyperhomocysteinemia. There are three types of homocystinuria without methylmalonic aciduria; cblE, cblG and cblD-variant 1 (cblDv1)." "" + "Hooft disease" "" + "autosomal recessive humeroradial synostosis" "Autosomal recessive form of humeroradial synostosis (disease)." "" + "humeroradial synostosis with craniofacial anomalies" "" + "Hutterite cerebroosteonephrodysplasia syndrome" "" + "multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome" "" + "hydrocephalus, nonsyndromic, autosomal recessive 1" "Any congenital hydrocephalus in which the cause of the disease is a mutation in the CCDC88C gene." "" + "congenital hydrocephalus" "Hydrocephalus that is present at birth." "" + "autosomal recessive hydrocephalus due to congenital stenosis of aqueduct of Sylvius" "" + "X-linked hydrocephalus with stenosis of the aqueduct of Sylvius" "A form of L1 syndrome caused by changes in the L1CAM gene characterized by severe hydrocephalus mostly with prenatal onset, signs of intracranial hypertension, adducted thumbs, spasticity, and severe intellectual deficit. HSAS represents the severe end of the spectrum and is associated with poor prognosis." "" + "growth delay-hydrocephaly-lung hypoplasia syndrome" "Growth delay - hydrocephaly - lung hypoplasia, also named Game-Friedman-Paradice syndrome, is a rare developmental disorder described in 4 sibs so far and characterized by delayed fetal growth, hydrocephaly with patent aqueduct of Sylvius, underdeveloped lungs and various other anomalies such as small jaw, intestinal malrotation, omphalocele, shortness of lower limbs, bowed tibias and foot deformities." "" + "hydrocephaly-tall stature-joint laxity syndrome" "Hydrocephaly-tall stature-joint laxity syndrome is a multiple congenital anomalies syndrome described in two sisters and characterized by the presence of hydrocephalus (onset in infancy), tall stature, joint laxity, and thoracolumbar kyphosis. There have been no further descriptions in the literature since 1989." "" + "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1" "An autosomal recessive muscular dystrophy caused by mutations in the POMT1 gene, encoding protein O-mannosyl-transferase 1. It is associated with characteristic brain and eye malformations, profound mental retardation, and early death." "" + "myopathy caused by variation in POMT1" "Any myopathy in which the cause of the disease is a variation in the POMT1 gene." "" + "hydrolethalus syndrome 1" "Any hydrolethalus syndrome in which the cause of the disease is a mutation in the HYLS1 gene." "" + "normal pressure hydrocephalus" "A form of compensated hydrocephalus characterized clinically by a slowly progressive gait disorder (see gait disorders, neurologic), progressive intellectual decline, and urinary incontinence. Spinal fluid pressure tends to be in the high normal range. This condition may result from processes which interfere with the absorption of csf including subarachnoid hemorrhage, chronic meningitis, and other conditions. (From Adams et al., Principles of Neurology, 6th ed, pp631-3)" "" + "McKusick-Kaufman syndrome" "McKusick-Kaufman syndrome is a very rare, genetic developmental disorder presenting in the neonatal period characterized by genitourinary malformations, polydactyly, and more rarely, congenital heart disease or gastrointestinal malformations." "" + "urofacial syndrome type 1" "" + "non-immune hydrops fetalis" "Non-immune hydrops fetalis (NIHF), a form of HF, is a severe fetal condition defined as the excessive accumulation of fetal fluid within the fetal extravascular compartments and body cavities, and is the end-stage of a wide variety of disorders." "" + "hydrops fetalis" "Hydrops fetalis is a severe and challenging fetal condition usually defined as the excessive accumulation of fetal fluid within the fetal extravascular compartments and body cavities that manifests as edema, pleural and pericardial effusion and ascites. It is the end-stage of a wide variety of disorders. The cause may be immunologic (immune hydrops fetalis, IHF) or non immunologic (non-immune hydrops fetalis, NIHF), depending on the presence or absence of maternal antibodies against fetal red cell antigens (ABO incompatibility or rhesus (Rh) incompatibility)." "" + "L-2-hydroxyglutaric aciduria" "L-2-hydroxyglutaric aciduria is a primarily neurological form of 2-hydroxyglutaric aciduria characterized by psychomotor retardation, cerebellar ataxia and variable macrocephaly or epilepsy." "" + "2-hydroxyglutaric aciduria" "2-Hydroxyglutaric aciduria is a group of neurometabolic disorders with a wide clinical spectrum ranging from severe neonatal presentations to progressive forms, and asymptomatic cases, characterized biochemically by increased levels of 2-hydroxyglutaric acid in the plasma, cerebrospinal fluid and urine." "" + "3-hydroxyisobutyric aciduria" "3 hydroxyisobutyric aciduria is characterised by ketoacidotic episodes, cerebral anomalies and facial dysmorphism. It is an organic aciduria that involves valine metabolism. Thirteen cases have been described in the literature so far. Transmission is thought to be autosomal recessive." "" + "valine metabolism disease" "A disease that has its basis in the disruption of valine metabolic process." "" + "encephalopathy due to hydroxykynureninuria" "Encephalopathy due to hydroxykynureninuria is characterised by psychomotor retardation and nonprogressive encephalopathy associated with urinary excretion of large amounts of kynurenine, 3-hydroxykynurenine, and xanthurenic acid. It has been described in less than 30 patients. Other manifestations may include muscular hypertonia, headaches and stereotyped gestures. This disorder is transmitted as an autosomal recessive trait. It is caused by a defect in kynureninase, an enzyme of the tryptophane catabolic pathway." "" + "inborn disorder of tryptophan metabolism" "An acquired metabolic disease that is has its basis in the disruption of tryptophan metabolic process." "" + "seizures-intellectual disability due to hydroxylysinuria syndrome" "Seizures-intellectual disability due to hydroxylysinuria syndrome is characterised by hydroxylysinuria, myoclonic and motor seizures and intellectual deficit. It has been described in a brother and sister born to consanguineous parents and in one unrelated patient." "" + "hydroxyprolinemia" "" + "hymen, imperforate" "" + "carbamoyl phosphate synthetase I deficiency disease" "Carbamoyl-phosphate synthetase 1 deficiency (CPS1D) is a rare and severe disorder of urea cycle metabolism most commonly characterized by either a neonatal-onset of severe hyperammonemia that occurs few days after birth and manifests with lethargy, vomiting, hypothermia, seizures, coma and death or a presentation outside the newborn period at any age with (sometimes) milder symptoms of hyperammonemia." "" + "hyperammonemia due to N-acetylglutamate synthase deficiency" "N-acetylglutamate synthase (NAGS) deficiency is a urea cycle disorder leading to hyperammonaemia." "" + "hyper-beta-alaninemia" "Hyperbetaalaninemia is a very rare metabolic condition.Hyperbetaalaninemia refers to thebuild-upof protein building blocks, called beta amino acids, in the body. The excess beta amino acidsare neurotoxic to the body. Signs and symptoms of hyperbetaalaninemia includeconvulsions (rapid and uncontrollable shaking), lethargy, and encephalopathy.Hyperbetaalaninemia is thought to be due to a loss ofa functional form of the enzyme,beta-alanine-alpha-ketoglutarate transaminase.Treatment with oral pyridoxine wasdemonstrated to be helpful in one case." "" + "Rotor syndrome" "Rotor syndrome (RT) is a benign, inherited liver disorder characterized by chronic, predominantly conjugated, nonhemolytic hyperbilirubinemia with normal liver histology." "" + "Dubin-Johnson syndrome" "Dubin-Johnson syndrome (DJS) is a benign, inherited liver disorder characterized clinically by chronic, predominantly conjugated, hyperbilirubinemia and histopathologically by black-brown pigment deposition in parenchymal liver cells." "" + "hyperbilirubinemia, conjugated, type 3" "" + "hyperbilirubinemia, shunt, primary" "" + "transient familial neonatal hyperbilirubinemia" "" + "Leydig cell hypoplasia, type 1" "Any Leydig cell hypoplasia in which the cause of the disease is a mutation in the LHCGR gene." "" + "hyperleucine-Isoleucinemia" "" + "hyperlexia" "" + "familial lipoprotein lipase deficiency" "Familial lipoprotein lipase deficiency is a rare genetic disorder is which a person lacks the enzyme lipoprotein lipase, a protein needed to break down fat molecules. Deficiency of this enzyme prevents affected individuals from properly digesting certain fats. This results in the accumulation of fatty droplets called chylomicrons in the blood and an increase in the blood concentration of triglycerides. Symptoms include episodes of abdominal pain, recurrent inflammation of the pancreas (pancreatitis), abnormal enlargement of the liver and/or spleen (hepatosplenomegaly), and the development of skin lesions known as erruptive xanthomas. Familial lipoprotein lipase deficiency is caused by changes (mutations) in the LPL gene. It is inherited in an autosomal recessive pattern. Treatment aims to control symptoms and blood triglyceride levels with a very low-fat diet. Treatment for individual symptoms (i.e. pancreatitis) involves following established treatment guidelines." "" + "hyperlysinemia" "Hyperlysinaemia is a lysine metabolism disorder characterised by elevated levels of lysine in the cerebrospinal fluid and blood. Variable degrees of saccharopinuria are also present." "" + "hyperlysinemia due to defect in lysine transport into mitochondria" "" + "hyperlysinuria with hyperammonemia" "" + "hypermetabolism due to defect in mitochondria" "" + "hyperopia, high" "" + "ornithine translocase deficiency" "Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (triple H syndrome) is a disorder of urea cycle metabolism characterized by either a neonatal-onset with manifestations of lethargy, poor feeding, vomiting and tachypnea or, more commonly, presentations in infancy, childhood or adulthood with chronic neurocognitive deficits, acute encephalopathy and/or chronic liver dysfunction." "" + "juvenile Paget disease" "Juvenile Paget disease is a very rare form of Paget disease of the bone characterized by a general increase in bone turnover with increased bone resorption and deposition, resulting in cortical and trabecular thickening, and clinically presenting as progressive skeletal deformities, growth impairment, fractures, vertebral collapse, skull enlargement and sensorineural hearing loss." "" + "hyperostosis corticalis generalisata" "Hyperostosis corticalis generalisata, also known as van Buchem disease, is a rare craniotubular hyperostosis characterized by hyperostosis of the skull, mandible, clavicles, ribs and diaphyses of the long bones, as well as the tubular bones of the hands and feet. Clinical manifestations include increased skull thickness with cranial nerve entrapment causing inconsistent cranial nerve palsies." "" + "hyperparathyroidism, neonatal self-limited primary, with hypercalciuria" "" + "neonatal severe primary hyperparathyroidism" "Neonatal severe primary hyperparathyroidism (NSHPT) is characterized by severe hypercalcemia (> 3.5 mM) from birth and associated with major hyperparathyroidism." "" + "primary bone dysplasia with defective bone mineralization" "True" + "hyperphosphatasia with intellectual disability syndrome 1" "Any hyperphosphatasia-intellectual disability syndrome in which the cause of the disease is a mutation in the PIGV gene." "" + "hyperphosphatasia-intellectual disability syndrome" "" + "hyperphosphatemia, polyuria, and seizures" "" + "hyperprolinemia type 1" "Hyperprolinaemia type I is an inborn error of proline metabolism characterised by elevated levels of proline in the plasma and urine. The prevalence is unknown. The disorder is generally considered to be benign but associations with renal abnormalities, epileptic seizures, and other neurological manifestations, as well as certain forms of schizophrenia have been reported. It is transmitted as an autosomal recessive trait and is caused by mutations in the proline dehydrogenase or proline oxidase gene (PRODH or POX, 22q11.2)." "" + "hyperprolinemia" "Hyperprolinemia is when there isan excess of a particular protein building block (amino acid), called proline, in the blood. This condition generally occurs when proline is not broken down properly by the body. There are two inherited forms:hyperprolinemia type1 and hyperprolinemia type 2. People with hyperprolinemia type I often do not show any symptoms, although they have proline levels in their blood between 3 and 10 times the normal level. Less commonly, affected individuals can experience seizures, intellectual disability, or other neurological or psychiatric problems. Hyperprolinemia is caused by mutations in the PRODH gene and is inherited in an autosomal recessive pattern." "" + "hyperprolinemia type 2" "Hyperprolinemia type 2 is an autosomal recessive proline metabolism disorder due to pyroline-5-carboxylate dehydrogenase deficiency. The condition is often benign but clinical signs may include seizures, intellectual deficit and mild developmental delay." "" + "acrofrontofacionasal dysostosis 2" "A very rare syndrome associating an acro-fronto-facio-nasal dysostosis with genitourinary anomalies." "" + "hypertelorism and tetralogy of fallot" "" + "hypertelorism, microtia, facial clefting syndrome" "Hypertelorism-microtia-facial clefting syndrome, or HMC syndrome, is a very rare syndrome characterized by the combination of hypertelorism, cleft lip and palate and microtia." "" + "cervical hypertrichosis-peripheral neuropathy syndrome" "Cervical hypertrichosis peripheral neuropathy is a rare syndrome characterized by the association of congenital hypertrichosis in the anterior cervical region with peripheral sensory and motor neuropathy. It has been described in three members of the same family and in one unrelated boy. Associated features in the familial cases include retinal anomalies, spina bifida, kyphoscoliosis and hallux valgus, while that in the non-familial case includes developmental delay. An autosomal recessive mode of inheritance is suggested. There have been no further descriptions in the literature since 1993." "" + "hypertrichotic osteochondrodysplasia Cantu type" "Cantu syndrome is a rare disorder characterized by congenital hypertrichosis, osteochondrodysplasia, cardiomegaly, and dysmorphism." "" + "hypertrophic neuropathy and cataract" "" + "hyperuricemia, infantile, with abnormal behavior and normal hypoxanthine guanine phosphoribosyltransferase" "" + "hypervitaminosis a, susceptibility to" "" + "acquired chronic primary adrenal insufficiency" "An instance of chronic primary adrenal insufficiency that is acquired during the lifetime of the individual." "" + "autoimmune polyendocrine syndrome type 1" "Autoimmune polyendocrinopathy type 1, or APECED syndrome, is a genetic disease that manifests in childhood or early adolescence with a combination of chronic mucocutaneous candidiasis, hypoparathyroidism and autoimmune adrenal failure." "" + "autoimmune polyendocrinopathy" "A group of diverse conditions that are characterized by spontaneous, multi-organ autoimmunity, which target both endocrine (adrenal, gonad, pancreatic islet cells, parathyroid, pituitary, thyroid) and non-endocrine (gastrointestinal, integumentary, lymphatic) tissues." "" + "immunodeficiency syndrome with autoimmunity" "True" + "genetic hypoparathyroidism" "Genetic hypoparathyroidism." "" + "autoimmune hypoparathyroidism" "An autoimmune form of hypoparathyroidism." "" + "acquired primary ovarian failure" "An instance of primary ovarian failure that is acquired during the lifetime of the individual." "" + "scurvy" "Scurvy is a condition that develops in people who do not consume an adequate amount of vitamin C in their diet. Although scurvy is relatively rare in the United States, it continues to be a problem in malnourished populations around the world (such as impoverished, underdeveloped third world countries). Early features of the condition include general weakness, fatigue and aching limbs. If left untreated, more serious problems can develop such as anemia, gum disease, and skin hemorrhages. Symptoms generally develop after at least 3 months of severe or total vitamin C deficiency. Scurvy can be cured with vitamin C supplements taken by mouth. Once recovery is complete, dietary modifications to ensure the 'recommended daily intake' of vitamin C is reached will prevent relapse. Except in the case of severe dental disease, permanent damage from scurvy does not usually occur." "" + "immunodeficiency, common variable, 2" "" + "glycogen storage disease due to hepatic glycogen synthase deficiency" "Glycogen synthetase deficiency, or glycogen storage disease (GSD) type 0, is a genetically inherited anomaly of glycogen metabolism and a form of GSD characterized by fasting hypoglycemia. This is not a glycogenosis, strictly speaking, as the enzyme deficiency decreases glycogen reserves." "" + "glycogen storage disease due to glycogen synthase deficiency" "True" + "hypoglycemia, leucine-induced" "" + "hypoinsulinemic hypoglycemia and body hemihypertrophy" "" + "hypergonadotropic hypogonadism-cataract syndrome" "This syndrome is characterized by the association of hypergonadotropic hypogonadism and cataracts with onset during adolescence. It has been described in three brothers from a consanguineous family." "" + "hypogonadism with low-grade mental deficiency and microcephaly" "" + "Woodhouse-Sakati syndrome" "Woodhouse-Sakati syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia." "" + "primary hypergonadotropic hypogonadism-partial alopecia syndrome" "This syndrome is characterized by primary hypergonadotropic hypogonadism and partial alopecia." "" + "hypogonadism, male" "" + "hypohidrosis with abnormal palmar dermal Ridges" "" + "hypokalemic alkalosis, familial, with specific renal tubulopathy" "" + "Bartter disease type 2" "Any Bartter syndrome in which the cause of the disease is a mutation in the KCNJ1 gene." "" + "Bartter syndrome" "Bartter syndrome is a group of rare renal tubular disease characterized by impaired salt reabsorption in the thick ascending limb of Henle's loop and clinically by the association of hypokalemic alkalosis, hypercalciuria/nephrocalcinosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II." "" + "antenatal Bartter syndrome" "A phenotypic variant of Bartter syndrome presenting antenatally with maternal polyhydramnios, pre-term delivery and postnatally with polyuria, and nephrocalcinosis. Hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II are characteristically associated. Genotypically they comprise Type 1 and Type 2 Bartter syndrome." "" + "hypomandibular faciocranial dysostosis" "Hypomandibular faciocranial dysostosis is a cranial malformation characterized by facial dysmorphism (proptosis, frontal bossing, midface and zygomatic arches hypoplasia, short nose with anteverted nostrils, microstomia with persistent buccopharyngeal membrane, severe hypoglossia with glossoptosis, severe mandibular hypoplasia, and low set ears) associated with laryngeal hypoplasia and craniosynostosis. Other variable features include cleft palate, optic nerve coloboma and choanal stenosis." "" + "hypoparathyroidism-retardation-dysmorphism syndrome" "Sanjad-Sakati syndrome (SSS), also known as hypoparathyroidism - intellectual disability-dysmorphism, is a rare multiple congenital anomaly syndrome, mainly occurring in the Middle East and the Arabian Gulf countries, characterized by intrauterine growth restriction at birth, microcephaly, congenital hypoparathyroidism (that can cause hypocalcemic tetany or seizures in infancy), severe growth retardation, typical facial features (long narrow face, deep-set eyes, beaked nose, floppy and large ears, long philtrum, thin lips and micrognathia), and mild to moderate intellectual deficiency. Ocular findings (i.e. nanophthalmos, retinal vascular tortuosity and corneal opacification/clouding) and superior mesenteric artery syndrome have also been reported. Although SSS shares the same locus with the autosomal recessive form of Kenny-Caffey syndrome, the latter differs from SSS by its normal intelligence and skeletal features." "" + "obsolete infantile hypophosphatasia" "Infantile hypophosphatasia (I-HPP) is a very rare, severe form of hypophosphatasia characterized by infantile rickets without elevated serum alkaline phosphatase (ALP) activity and a wide range of clinical manifestations due to hypomineralization." "" "true" + "obsolete childhood hypophosphatasia" "Childhood-onset hypophosphatasia is a rare, mildform of hypophosphatasia characterized by onset after six months of age and widely variable clinical features from low bone mineral density for age, to unexplained fractures,skeletal deformities,and rickets with short stature and waddling gait." "" "true" + "hypophosphatemia, renal, with intracerebral calcifications" "" + "hypophosphatemic rickets, autosomal recessive, 1" "Any autosomal recessive hypophosphatemic rickets in which the cause of the disease is a mutation in the DMP1 gene." "" + "autosomal recessive hypophosphatemic rickets" "Autosomal recessive hypophosphatemic rickets (ARHR) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia and slow growth." "" + "hereditary hypophosphatemic rickets with hypercalciuria" "Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia and hypercalciuria associated with rickets and/or osteomalacia." "" + "hypopituitarism, congenital, with central diabetes insipidus" "" + "hypoplastic left heart syndrome 1" "Any hypoplastic left heart syndrome in which the cause of the disease is a mutation in the GJA1 gene." "" + "hypoproteinemia, hypercatabolic" "" + "MHC class I deficiency" "Immunodeficiency by defective expression of HLA class 1 is a very rare, primary, genetic, immunodeficiency disorder characterized by partial or complete absence of human leukocyte antigen class I expression resulting in a non-specific clinical picture of impaired immune response and susceptibility to infections." "" + "hypospadias-intellectual disability, Goldblatt type syndrome" "Hypospasdias B intellectual deficit, Goldblatt type is a very rare multiple congenital anomalies syndrome described in three brothers of one South-African family, and characterized by hypospadias and intellectual deficit, in association with mirocephaly, craniofacial dysmorphism, joint laxity and beaked nails." "" + "congenital hypothalamic hamartoma syndrome" "Hypothalamic hamartomas (HH) are rare, tumor-like malformations that occur during fetal development and are present at birth. The lesions usually do not change in size or spread to other locations. Both the type and severity of symptoms vary greatly among patients with hypothalamic hamartomas. Common symptoms include frequent gelastic seizures (spontaneous laughing, giggling and/or smirking) or dacrystic seizures (crying or grunting); developmental delays; and/or precocious puberty. Additional symptoms may include cognitive impairment; emotional and behavioral difficulties; and endocrine disturbances. These symptoms often start early in life but are frequently misdiagnosed. For some patients, endocrine (hormonal) disturbances such as central precocious puberty may be the only symptom. These patients can often be treated successfully with medications. For some, however, HH can be disabling. For those with HH and epilepsy, it is common for the disorder to progress and for different types of seizures to develop. The seizures associated with HH often cannot be well-controlled with the standard seizure medications. For some, additional treatment such as surgical removal, radiosurgery, or thermoablation may be indicated. Though hypothalamic hamartomas can occur in patients with certain genetic disorders (such as Pallister-Hall syndrome), the majority of cases are sporadic." "" + "Bamforth-Lazarus syndrome" "Bamforth-Lazarus syndrome is a very rare syndrome of congenital hypothyroidism characterized by thyroid dysgenesis (in most cases athyreosis), cleft palate and spiky hair, with or without choanal atresia, and bifid epiglottis. Facial dysmorphism and porencephaly have been reported in isolated cases." "" + "hypouricemia, hypercalcinuria, and decreased bone density" "" + "autosomal recessive congenital ichthyosis 2" "An autosomal recessive condition caused by mutation(s) in the ALOX12B gene, encoding arachidonate 12-lipoxygenase, 12R-type. It is characterized by dry, thickened, scaly skin." "" + "self-healing collodion baby" "Self-healing collodion baby (SHCB) is a minor variant of autosomal recessive congenital ichthyosis (ARCI) characterized by the presence of a collodion membrane at birth that heals within the first weeks of life." "" + "congenital non-bullous ichthyosiform erythroderma" "Congenital ichthyosiform erythroderma (CIE) is a variant of autosomal recessive congenital ichthyosis (ARCI), a rare epidermal disease, characterized by fine, whitish scales on a background of erythematous skin over the whole body." "" + "ichthyosiform erythroderma, corneal involvement, and hearing loss" "" + "autosomal recessive congenital ichthyosis 1" "Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the TGM1 gene." "" + "autosomal recessive congenital ichthyosis" "Autosomal recessive form of inherited ichthyosis." "" + "ichthyosis congenita with biliary atresia" "" + "autosomal recessive congenital ichthyosis 4B" "Harlequin ichthyosis (HI) is the most severe variant of autosomal recessive congenital ichthyosis (ARCI). It is characterized at birth by the presence of large, thick, plate-like scales over the whole body associated with severe ectropion, eclabium, and flattened ears, that later develops into a severe scaling erythroderma." "" + "autosomal recessive congenital ichthyosis 4A" "Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the ABCA12 gene." "" + "ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome" "Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome is an ectodermal dysplasia syndrome characterized by severe generalized lamellar icthyosis at birth with alopecia, eclabium, ectropion and intellectual disability. Although similar to Sjogren-Larsson syndrome, this syndrome lacks the presence of neurologic or macular changes. There have been no further descriptions in the literature since 1987." "" + "ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome" "Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome is characterised by ichthyosis, hepatosplenomegaly and late-onset cerebellar ataxia. It has been described in two brothers. Transmission is either autosomal recessive or X-linked." "" + "ichthyosis-intellectual disability-dwarfism-renal impairment syndrome" "Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome is characterised by nonbullous congenital ichthyosis, intellectual deficit, dwarfism and renal impairment. It has been described in four members of one Iranian family. Transmission is autosomal recessive." "" + "ichthyosis, split hairs, and amino aciduria" "" + "iminoglycinuria" "Iminoglycinuria is a metabolic disorder resulting from defective renal tube reabsorption of proline, hydroxyproline and glycine. The prevalence is estimated at around 1 in 15 000. The disorder is usually asymptomatic and is identified fortuitously by detection of increased levels of the imino acids and glycine in the urine. It is transmitted as an autosomal recessive trait." "" + "ciliary dyskinesia with defective radial spokes" "" + "ciliary dyskinesia with excessively long cilia" "" + "Nezelof syndrome" "" + "Vici syndrome" "A very rare and severe congenital multisystem disorder characterized by the principal features of agenesis of the corpus callosum, cataracts, oculocutaneous hypopigmentation, cardiomyopathy and combined immunodeficiency." "" + "immunodeficiency-centromeric instability-facial anomalies syndrome 1" "Any immunodeficiency-centromeric instability-facial anomalies syndrome in which the cause of the disease is a mutation in the DNMT3B gene." "" + "immunodeficiency, partial combined, with absence of HLA Determinants and beta-2-microglobulin from lymphocytes" "" + "Immunoerythromyeloid hypoplasia" "" + "reticular dysgenesis" "Reticular dysgenesis is the most severe form of severe combined immunodeficiency (SCID) and is characterized by bilateral sensorineural deafness and a lack of innate and adaptive immune functions leading to fatal septicemia within days after birth if not treated." "" + "immunoglobulin d level in plasma, low" "" + "Schimke immuno-osseous dysplasia" "Schimke immuno-osseous dysplasia (SIOD) is a multisystem disorder characterized by spondyloepiphyseal dysplasia and disproportionate short stature, facial dysmorphism, T-cell immunodeficiency, and glomerulonephritis with nephrotic syndrome." "" + "immuno-osseous dysplasia" "" + "malformative syndrome with dentinogenesis imperfecta" "True" + "channelopathy-associated congenital insensitivity to pain, autosomal recessive" "A syndrome characterized by indifference to pain despite the ability to distinguish noxious from non-noxious stimuli. Absent corneal reflexes and intellectual disability may be associated. Familial forms with autosomal recessive and autosomal dominant patterns of inheritance have been described. (Adams et al., Principles of Neurology, 6th ed, p1343)" "" + "indolylacroyl glycinuria with intellectual disability" "" + "male infertility due to large-headed multiflagellar polyploid spermatozoa" "Male infertility due to large-headed multiflagellar polypoid spermatozoa is a male infertility due to sperm disorder characterized by the presence, in sperm, of a very high percentage of spermatozoa with enlarged head, irregular head shape, multiple flagella, and abnormal midpiece and acrosome. It is generally associated with severe oligoasthenozoospermia and a high rate of sperm chromosomal abnormalities (polyploidy, aneuploidy)." "" + "male infertility with teratozoospermia due to single gene mutation" "Male infertility with teratozoospermia due to single gene mutation is a rare, genetic male infertility due to sperm disorder characterized by the presence of spermatozoa with abnormal morphology, such as macrozoospermia or globozoospermia, in over 85% of sperm, resulting from mutation in a single gene known to cause teratozoospermia. It is a heterogeneous group that includes a wide range of abnormal sperm phenotypes affecting, solely or simultaneously, head, neck, midpiece, and/or tail." "" + "inosine phosphorylase deficiency, immune defect due to" "" + "internal carotid arteries, hypoplasia of" "" + "immunodeficiency with defective T-cell response to interleukin 1" "" + "multiple intestinal atresia" "A rare form of intestinal atresia characterized by the presence of numerous atresic segments in the small bowel (duodenum) or large bowel and leading to symptoms of intestinal obstruction: vomiting, abdominal bloating and inability to pass meconium in newborns." "" + "obsolete neuronal intestinal pseudoobstruction" "" "true" + "natal teeth-intestinal pseudoobstruction-patent ductus syndrome" "" + "pseudotumor cerebri" "Idiopathic intracranial hypertension is a neurological disorder characterized by isolated increased intracranial pressure manifesting with recurrent and persistent headaches, nausea, vomiting, progressive and transient obstruction of the visual field, papilledema. Visual loss can be irreversible." "" + "benign recurrent intrahepatic cholestasis type 1" "Benign recurrent intrahepatic cholestasis 1 (BRIC1) is characterized by episodes of liver dysfunction called cholestasis, during which the liver cells have a reduced ability to release a digestive fluid called bile. These episodes can last from weeks to months, and the time between them, during which there are usually no symptoms, can vary from weeks to years.Most people with BRIC1have their first episode of cholestasisintheir teens or twenties. Symptoms oftenpresent with severe itchiness, followed by yellowing of the skin and whites of the eyes (jaundice) a few weeks later. BRIC1 is caused by mutations in the ATP8B1 gene. This condition is inherited in an autosomal recessive pattern.BRIC1generally does not cause lasting damage to the liver. However, in rare cases, episodes of liver dysfunction may develop into a more severe, permanent form of liver disease known as progressive familial intrahepatic cholestasis (PFIC). BRIC and PFIC are sometimes considered to be part of a spectrum of intrahepatic cholestasis disorders of varying severity." "" + "benign recurrent intrahepatic cholestasis" "Benign recurrent intrahepatic cholestasis (BRIC) is a hereditary liver disorder characterized by intermittent episodes of intrahepatic cholestasis, generally without progression to chronic liver damage. BRIC is now believed to belong to a clinical spectrum of intrahepatic cholestatic disorders that ranges from the mild intermittent attacks in BRIC to the severe, chronic and progressive cholestasis seen in progressive familial intrahepatic cholestasis (PFIC)." "" + "Baraitser-Winter syndrome 1" "Any Baraitser-Winter cerebrofrontofacial syndrome in which the cause of the disease is a mutation in the ACTB gene." "" + "Baraitser-Winter cerebrofrontofacial syndrome" "Baraitser-Winter syndrome (BWS) is a malformation syndrome, characterized by facial dysmorphism (hypertelorism with ptosis, broad bulbous nose, ridged metopic suture, arched eyebrows, progressive coarsening of the face), ocular coloboma, pachygyria and/or band heterotopias with antero-posterior gradient, progressive joint stiffening, and intellectual deficit of variable severity, often with severe epilepsy. Pachygyria - epilepsy - intellectual disability - dysmorphism (Fryns-Aftimos syndrome (FA)) corresponds to the appearance of BWS in elderly patients." "" + "intrinsic factor and r binder, combined congenital deficiency of" "" + "hereditary intrinsic factor deficiency" "Congenital intrinsic factor deficiency (IFD) is a rare disorder of vitamin B12 (cobalamin) absorption that is characterized by megaloblastic anemia and neurological abnormalities." "" + "acetylation, slow" "" + "isotretinoin-like syndrome" "Isotretinoin-like syndrome is a phenocopy of the isotretinoin embryopathy." "" + "isovaleric acid, inability to smell" "" + "isovaleric acidemia" "Isovaleric acidemia (IVA) is an autosomal recessively inherited organic aciduria characterized by a deficiency in isovaleryl-CoA dehydrogenase, that has wide clinical variability and that can present in infancy with acute manifestations of vomiting, failure to thrive, seizures, lethargy, a characteristic ''sweaty feet'' odor, acute pancreatitis and mild to severe developmental delay or in childhood with metabolic acidosis (brought on by prolonged fasting, an increased intake of protein-rich food or infections) and that can be fatal if not treated immediately. Chronic intermittent presentations and asymptomatic patients have also been reported." "" + "atresia of small intestine" "Atresia of small intestine is a special form of intestinal atresia with absence of mesentery, which is most likely due to an intrauterine intestinal vascular accident. Newborns are usually preterm infants with low birth-weights, that encounter feeding difficulties (including vomiting with initial feeds, which may later worsened and the abdomen becomes progressively distended) as well as failure to thrive. Affected children present disrupted bowel loops assuming a spiral configuration resembling an 'apple peel' and may have less than half of the normal length of the small bowel and a physiologically short bowel. Atresia of small intestine is characterized by jejunal atresia near the ligament of Treitz, foreshortened bowel, and a large mesenteric gap. The bowel distal to the atresia is precariously supplied. Atresia of small intestine may be a manifestation of cystic fibrosis. The most important cause of mortality is short bowel syndrome, encountered in 65% of cases." "" + "Stromme syndrome" "Stromme syndrome is an autosomal recessive congenital disorder affecting multiple systems with features of a ciliopathy. Affected individuals typically have some type of intestinal atresia, variable ocular abnormalities, microcephaly, and sometimes involvement of other systems, including renal and cardiac. In some cases, the condition is lethal in early life, whereas other patients show normal survival with or without mild cognitive impairment (summary by Filges et al., 2016)." "" + "nephropathy-associated ciliopathy" "" + "combined immunodeficiency due to DOCK8 deficiency" "Combined immunodeficiency due to dedicator of cytokinesis 8 protein (DOCK8) deficiency is a form of T and B cell immunodeficiency characterized by recurrent cutaneous viral infections, susceptibility to cancer and elevated serum levels of immunoglobulin E (IgE)." "" + "Johanson-Blizzard syndrome" "Johanson-Blizzard syndrome (JBS) is a multiple congenital anomaly characterized by exocrine pancreatic insufficiency, hypoplasia/aplasia of the nasal alae, hypodontia, sensorineural hearing loss, growth retardation, anal and urogenital malformations, and variable intellectual disability." "" + "Joubert syndrome with oculorenal defect" "Joubert syndrome with oculorenal defect is a rare subtype of Joubert syndrome and related disorders (JSRD) characterized by the neurological features of JS associated with both renal and ocular disease." "" + "Jumping Frenchmen of Maine" "" + "hypogonadotropic hypogonadism 3 with or without anosmia" "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the PROKR2 gene." "" + "kapur-Toriello syndrome" "Kapur-Toriello syndrome is an extremely rare syndrome characterized by facial dysmorphism, severe intellectual deficiency, cardiac and intestinal anomalies, and growth retardation." "" + "primary ciliary dyskinesia 1" "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAI1 gene." "" + "oculocerebrofacial syndrome, Kaufman type" "" + "autosomal recessive Kenny-Caffey syndrome" "An autosomal recessive form of Kenny-Caffey syndrome due to mutation(s) in the TBCE gene, encoding tubulin-specific chaperone E. This condition is characterized by hypoparathyroidism with hypocalcemia, marked growth retardation, craniofacial anomalies, absent diploic space in the skull, cortical thickening of long bones with medullary stenosis, and small hands and feet." "" + "keratoconus and congenital hip dysplasia" "" + "keratoconus posticus circumscriptus" "" + "hereditary palmoplantar keratoderma, Gamborg-Nielsen type" "Hereditary palmoplantar keratoderma, Gamborg-Nielsen type is characterised by the presence of diffuse palmoplantar keratoderma without associated symptoms. The syndrome has been described in multiple families from the northernmost county of Sweden (Norrbotten). The palmoplantar keratoderma found in the Gamborg-Nielsen type disease is milder than that found in Mal de Meleda but more severe than that found in Thost-Unna palmoplantar keratoderma. Transmission is autosomal recessive." "" + "autosomal recessive isolated diffuse palmoplantar keratoderma" "Autosomal recessive form of isolated diffuse palmoplantar keratoderma." "" + "Papillon-Lefevre disease" "Papillon-Lefevre syndrome (PLS) is a rare ectodermal dysplasia characterized by palmoplantar keratoderma associated with early-onset periodontitis." "" + "functional neutrophil defect" "" + "Haim-Munk syndrome" "Haim-Munk syndrome (HMS) is characterized by palmoplantar hyperkeratosis, severe early-onset periodontitis, onychogryposis, pes planus, arachnodactyly and acroosteolysis." "" + "succinyl-CoA:3-ketoacid CoA transferase deficiency" "Succinyl-CoA:3-ketoacid CoA transferase deficiency (SCOTD) is a defect in ketone body utilization characterized by severe, potentially fatal intermittent episodes of ketoacidosis." "" + "Richards-Rundle syndrome" "Richards-Rundle syndrome is an extremely rare neurodegenerative disorder characterized by progressive spinocerebellar ataxia, sensorineural hearing loss, and hypergonadotropic hypogonadism associated with additional neurological manifestations (such as peripheral muscle wasting, nystagmus, intellectual disability or dementia) and ketoaciduria." "" + "obsolete Ketoadipicaciduria" "" "true" + "Keutel syndrome" "Keutel syndrome is characterised by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism." "" + "Kniest-like dysplasia with pursed lips and ectopia lentis" "" + "Kifafa seizure disorder" "" + "lethal Kniest-like dysplasia" "Lethal Kniest-like dysplasia is a severe lethal skeletal dysplasia. It has been described in two sibs (one male and one female) born to nonconsanguineous parents. It is characterized by dumbbell-shaped long bones with markedly shortened diaphyses and metaphyseal irregularities." "" + "Krabbe disease" "A lysosomal disorder that affects the white matter of the central and peripheral nervous systems. It includes infantile, late-infantile/juvenile and adult forms." "" + "kuru, susceptibility to" "" + "metabolic myopathy due to lactate transporter defect" "Metabolic myopathy due to lactate transporter defect is a rare metabolic myopathy characterized by muscle cramping and/or stiffness after exercise (especially during heat exposure), post-exertional rhabdomyolysis and myoglobinuria, and elevation of serum creatine kinase." "" + "pyruvate dehydrogenase E2 deficiency" "Pyruvate dehydrogenase E2 deficiency is a very rare form of pyruvate dehydrogenase deficiency (PDHD) characterized by variable lactic acidosis and neurological dysfunction, mainly appearing during childhood." "" + "pyruvate dehydrogenase deficiency" "Pyruvate dehydrogenase deficiency (PDHD) is a rare neurometabolic disorder characterized by a wide range of clinical signs with metabolic and neurological components of varying severity. Manifestations range from often fatal, severe, neonatal lactic acidosis to later-onset neurological disorders. Six subtypes related to the affected subunit of the PDH complex have been recognized with significant clinical overlap: PDHD due to E1-alpha, E1-beta, E2 and E3 deficiency, PDHD due to E3-binding protein deficiency, and PDH phosphatase deficiency." "" + "pyruvate dehydrogenase E3-binding protein deficiency" "Pyruvate dehydrogenase E3-binding protein deficiency is a rare mild form of pyruvate dehydrogenase deficiency (PDHD) characterized by variable lactic acidosis and neurological dysfunction." "" + "mitochondrial DNA depletion syndrome 9" "Fatal infantile lactic acidosis with methylmalonic aciduria is a rare neurometabolic disease characterized by infantile onset of severe encephalomyopathy, lactic acidosis and elevated methylmalonic acid urinary excretion. Clinically it manifests with severe psychomotor delay, hypotonia, failure to thrive, feeding difficulties and dystonia. Epilepsy and multiple congenital anomalies may be associated." "" + "mitochondrial DNA depletion syndrome, encephalomyopathic form" "Mitochondrial DNA depletion syndrome, encephalomyopathic form is a group of mitochondrial DNA maintenance syndrome diseases characterized by predominantly neuromuscular manifestations with typically infantile onset of hypotonia, lactic acidosis, psychomotor delay, progressive hyperkinetic-dystonic movement disorders, external ophtalmoplegia, sensosineural hearing loss, generalized seizures and variable renal tubular dysfunction. It may be associated with a broad range of other clinical features." "" + "lactic aciduria due to D-lactic acid" "" + "specific granule deficiency" "" + "defective phagocytic cell engulfment" "" + "Lambert syndrome" "Lambert syndrome is a very rare syndrome described in four sibs of one French family and characterized by branchial dysplasia (malar hypoplasia, macrostomia, preauricular tags and meatal atresia), club feet, inguinal herniae and cholestasis due to paucity of interlobular bile ducts and intellectual deficit." "" + "Lambotte syndrome" "" + "obsolete Laron syndrome with immunodeficiency" "" "true" + "Larsen-like syndrome, B3GAT3 type" "Larsen-like syndrome, B3GAT3 type is a rare, genetic, primary bone dysplasia characterized by laxity, dislocations and contractures of the joints, short stature, foot deformities (e.g. clubfeet), broad tips of fingers and toes, short neck, dysmorphic facial features (hypertelorism, downslanting palpebral fissures, upturned nose with anteverted nares, high arched palate) and various cardiac malformations. Severe disease is associated with multiple fractures, osteopenia, arachnodactyly and blue sclerae. A broad spectrum of additional features, including scoliosis, radio-ulnar synostosis, mild developmental delay, and various eye disorders (glaucoma, amblyopia, hyperopia, astigmatism, ptosis), are also reported." "" + "lethal Larsen-like syndrome" "Larsen-like syndrome, lethal type, is characterised by multiple joint dislocation and respiratory insufficiency due to tracheomalacia and/or lung hypoplasia. It has been described in less than ten patients. Transmission is thought to be autosomal recessive. Brain dysplasia has been described in some patients and could result from systemic hypoxic-ischemic insults during the second half of pregnancy, although genetic factors have not been ruled out." "" + "laryngo-onycho-cutaneous syndrome" "LOC syndrome is a subtype of junctional epidermolysis bullosa (JEB) characterized by an altered cry in the neonatal period and by aberrant production of granulation tissue in particular affecting the upper airway tract, conjunctiva and periungual/subungual sites." "" + "Laurence-Moon syndrome" "A very rare genetic multisystemic disorder characterized by pituitary dysfunction, ataxia, peripheral neuropathy, spastic paraplegia, and chorioretinal dystrophy." "" + "Norum disease" "Familial LCAT (lecithin-cholesterol acyltransferase) deficiency (FLD) is a form of lecithin-cholesterol acyltransferase deficiency (LCAT) characterized clinically by corneal opacities, hemolytic anemia, and renal failure, and biochemically by severely decreased HDL cholesterol and complete deficiency of the LCAT enzyme." "" + "absence deformity of leg-cataract syndrome" "Absence deformity of leg B cataract is a very rare syndromic limb malformation described in two distantly related boys. It is characterized by absence deformity of the left leg, progressive scoliosis, short stature, congenital cataract associated with dysplasia of the optic nerve. No intellectual deficit has been observed." "" + "Donohue syndrome" "Leprechaunism is a congenital form of extreme insulin resistance (a group of syndromes that also includes Rabson-Mensenhall syndrome, type A insulin-resistance syndrome, and acquired type B insulin-resistance syndrome) characterized by intrauterine and mainly postnatal severe growth retardation." "" + "leprosy, susceptibility to, 3" "Any leprosy in which the cause of the disease is a mutation in the TLR2 gene." "" + "letterer-Siwe disease" "A multifocal, multisystem form of Langerhans-cell histiocytosis. There is involvement of multiple organ systems including the bones, skin, liver, spleen, and lymph nodes. Patients are usually infants presenting with fever, hepatosplenomegaly, lymphadenopathy, bone and skin lesions, and pancytopenia." "" + "Langerhans cell histiocytosis specific to childhood" "Langerhans cell histiocytosis that occurs during childhood." "" + "3-hydroxy-3-methylglutaric aciduria" "3-hydroxy-3-methylglutaric aciduria (3HMG) is an organic aciduria, due to deficiency of 3-hydroxy-3-methylglutaryl-CoA-lyase (a key enzyme in ketogenesis and leucine metabolism) usually presenting in infancy with episodes of metabolic decompensation triggered by periods of fasting or infections, which when left untreated are life-threatening and may lead to neurological sequelae." "" + "disorder of fatty acid oxidation and ketogenesis" "" + "leukemia, acute myelocytic, with polyposis coli and colon cancer" "" + "Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome" "Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome is a rare ectodermal dysplasia syndrome characterized by congenital generalized melanoleukoderma, hypodontia and hypotrichosis associated with infantilism, intellectual disability and growth delay. There have been no further descriptions in the literature since 1961." "" + "Lichtenstein syndrome" "Lichstenstein syndrome is characterised by frequent infections associated with osteoporosis, a tendency for fractures and osseous anomalies. It has been described in two monozygotic twin brothers. Transmission is autosomal recessive." "" + "intellectual disability-spasticity-ectrodactyly syndrome" "Intellectual disability-spasticity-ectrodactyly syndrome is a rare intellectual disability syndrome characterized by severe intellectual disability, spastic paraplegia (with wasting of the lower limbs) and distal transverse defects of the limbs (e.g. ectrodactyly, syndactyly, clinodactyly of the hands and/or feet)." "" + "split hand-foot malformation 3" "The distal limb deficiencies-micrognathia syndrome is characterized by the combination of symmetric severe distal limb reduction deficiencies affecting all four limbs (oligodactyly), microretrognathia, and microstomia with or without cleft palate." "" + "partial duplication of the long arm of chromosome 10" "" + "fibular aplasia, tibial campomelia, and oligosyndactyly syndrome" "" + "lipase deficiency, combined" "A rare disorder caused by mutation in the LMF1 gene resulting in combined lipase deficiency with concomitant hypertriglyceridemia and associated disorders." "" + "chylomicron retention disease" "Chylomicron retention disease (CRD) is a type of familial hypocholesterolemia characterized by malnutrition, failure to thrive, growth failure, vitamin E deficiency and hepatic, neurologic and ophthalmologic complications." "" + "pyruvate dehydrogenase E3 deficiency" "Pyruvate dehydrogenase E3 deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD) characterized by either early-onset lactic acidosis and delayed development, later-onset neurological dysfunction or liver disease." "" + "maple syrup urine disease" "An autosomal recessive inherited disorder caused by mutations in the BCKDHA, BCKDHB, DBT, and DLD genes. It is characterized by a deficiency of branched-chain alpha-keto acid dehydrogenase complex, leading to accumulation of metabolites in the body fluids. The name of the disease derives from the sweet odor of the urine in infants, reminiscent of maple syrup. Signs and symptoms usually appear in infancy and include lethargy and developmental delays. If untreated, it may lead to seizures, coma, and death." "" + "inherited lipoic acid biosynthesis defect" "An acquired metabolic disease that is has its basis in the disruption of lipoate biosynthetic process." "" + "lipoid proteinosis" "Lipoid proteinosis (LP) is a rare genodermatosis characterized clinically by mucocutaneous lesions, hoarseness developing in early childhood and, at times, neurological complications." "" + "obsolete lip prints" "" "true" + "Miller-Dieker lissencephaly syndrome" "A rare syndrome caused by deletion of genetic material in the short arm of chromosome 17. It is characterized by an abnormally smooth brain with fewer folds and grooves. It results in intellectual disability, developmental delay, seizures, spasticity, hypotonia, and feeding difficulties. Affected individuals have distinctive facial features that include a prominent forehead, midface hypoplasia, small, upturned nose, low-set ears, small jaw, and thick upper lip." "" + "classic lissencephaly" "" + "Dahlberg-Borer-Newcomer syndrome" "Dahlberg-Borer-Newcomer syndrome is a very rare ectodermal dysplasia syndrome, described in 2 adult brothers, characterized by the association of hypoparathyroidism, nephropathy, congenital lymphedema, mitral valve prolapse and brachytelephalangy. Additional features include mild facial dysmorphism, hyperthricoses, and nail abnormalities." "" + "chronic mucocutaneous candidiasis due to inhibition of lymphoblastic transformation" "" + "obsolete lymphedema, congenital recessive" "" "true" + "chronic mucocutaneous candidiasis due to intrinsic defect in lymphoblastic transformation" "" + "lymphoid interstitial pneumonia" "Interstitial pneumonia characterized by the presence of bibasilar pulmonary interstitial infiltrates composed of lymphocytes and plasma cells. It may be associated with autoimmune and lymphoproliferative disorders. Signs and symptoms include fever, cough, and dyspnea. Symptomatic patients may require immunosuppressive treatment." "" + "lymphoid system deterioration, progressive" "" + "lymphoblastic leukemia, acute, with lymphomatous features" "" + "chronic mucocutaneous candidiasis due to lymphokine deficiency" "" + "lymphopenic hypergammaglobulinemia, antibody deficiency, autoimmune hemolytic anemia, and glomerulonephritis" "" + "lysine malabsorption syndrome" "" + "prominent glabella-microcephaly-hypogenitalism syndrome" "Prominent glabella B microcephaly B hypogenitalism is a very rare syndrome described in two sibs and characterized by prenatal onset of growth deficiency, microcephaly, hypoplastic genitalia, and birth onset of convulsions." "" + "macrocephaly/megalencephaly syndrome, autosomal recessive" "" + "macroepiphyseal dysplasia with osteoporosis, wrinkled skin, and aged appearance" "" + "macrosomia adiposa congenita" "" + "macrosomia-microphthalmia-cleft palate syndrome" "Macrosomia-microphthalmia-cleft palate syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by early macrosomia, bilateral severe microphthalmia and a protuberant abdomen with hepatomegaly. Additional reported features include brachycephaly, large fontanelles, prominent forehead, upturned nose and median cleft palate. Cyanotic apneic spells and overwhelming infection lead to death within the first 6 months of life. There have been no further descriptions in the literature since 1989." "" + "renal hypomagnesemia 5 with ocular involvement" "Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement (FHHNCOI) is a form of familial primary hypomagnesemia (FPH), characterized by excessive magnesium and calcium renal wasting, bilateral nephrocalcinosis, progressive renal failure and severe ocular abnormalities." "" + "familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis" "Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is a form of familial primary hypomagnesemia (FPH), characterized by renal magnesium (Mg) and calcium (Ca) wasting, nephrocalcinosis, kidney failure and, in some cases, severe ocular impairment. Two subtypes of FHHNC are described: FHHNC with severe ocular involvement (FHHNCOI) and without severe ocular involvement (FHHN)." "" + "oculocerebrorenal syndrome" "Oculocerebrorenal syndrome of Lowe (OCRL) is a multisystem disorder characterized by congenital cataracts, glaucoma, intellectual disabilities, postnatal growth retardation and renal tubular dysfunction with chronic renal failure." "" + "severe early-childhood-onset retinal dystrophy" "Severe early childhood onset retinal dystrophy (SECORD) is an inherited retinal dystrophy, characterized by a severe congenital night blindness, progressive retinal dystrophy and nystagmus. Best corrected visual acuity can reach 0.3 in the first decade of life and can pertain well into the second decade of life. Blindness is often complete by the age of 30 years. An overlap with Leber congenital amaurosis (LCA) occurs when patients are characterized by their visual acuity and panretinal dystrophy." "" + "Stargardt disease" "Stargardt disease, also known as Stargardt 1 (STGD1), is an autosomal recessive form of retinal dystrophy that is usually characterized by a progressive loss of central vision associated with irregular macular and perimacular yellow-white fundus flecks, and a so-called ''beaten bronze'' atrophic central macular lesion." "" + "renal hypomagnesemia 3" "Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement (FHHN) is a form of familial primary hypomagnesemia (FPH), characterized by recurrent urinary tract infections, nephrolithiasis, bilateral nephrocalcinosis, renal magnesium (Mg) wasting, hypercalciuria and kidney failure." "" + "magnesium, elevated red cell" "" + "mal de Meleda" "Mal de Melada (MdM) is a diffuse palmoplantar keratoderma initially reported from of the Island of Meleda characterized by symmetric palmoplantar hyperkeratosis that progressively extends to the dorsal surfaces of hands and feet (transgradiens). The disease can be associated to hyperhidrosis, lichenoid plaques and perioral erythema." "" + "Plasmodium falciparum blood infection level" "" + "3MC syndrome 3" "Any 3MC syndrome in which the cause of the disease is a mutation in the COLEC10 gene." "" + "3MC syndrome" "3MC syndrome describes a rare developmental disorder, that unifies the overlapping autosomal recessive disorders previously known as Carnevale, Mingarelli, Malpuech and Michels syndromes, characterized by a spectrum of developmental anomalies that include distinctive facial dysmorphism (i.e. hypertelorism, blepharophimosis, blepharoptosis, highly arched eyebrows), cleft lip and/or palate, craniosynostosis, learning disability, radioulnar synostosis and genital and vesicorenal anomalies. Less common features reported include anterior chamber defects, cardiac anomalies (e.g. ventricular septal defect), caudal appendage, umbilical hernia/omphalocele and diastasis recti." "" + "malocclusion and short stature" "" + "malonic aciduria" "Malonic aciduria is a metabolic disorder caused by deficiency of malonyl-CoA decarboxylase (MCD)." "" + "metabolic disease due to other fatty acid oxidation disorder" "True" + "mandibuloacral dysplasia with type A lipodystrophy" "A rare, autosomal recessive inherited disorder caused by mutations in the LMNA gene. It is characterized by growth retardation, craniofacial abnormalities with mandibular hypoplasia, skeletal abnormalities with progressive osteolysis of the distal phalanges and clavicles, and mottled or patchy skin pigmentation. The affected individuals have a marked acral loss of adipose tissue with normal or increased adipose tissue in the neck and trunk." "" + "mandibuloacral dysplasia" "Mandibuloacral dysplasia (MAD) is a rare genetic bone disorder characterized by growth delay, postnatal development of craniofacial anomalies including mandibular hypoplasia, progressive acral osteolysis, mottled or patchy pigmentation, skin atrophy, and partial or generalized lipodystrophy." "" + "Treacher Collins syndrome 3" "Any Treacher-Collins syndrome in which the cause of the disease is a mutation in the POLR1C gene." "" + "mandibulofacial dysostosis with mental deficiency" "" + "oculotrichoanal syndrome" "" + "alpha-mannosidosis" "Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit." "" + "cataract associated with a metabolic disease" "True" + "beta-mannosidosis" "Beta-mannosidosis is a very rare lysosomal storage disease characterized by developmental delay of varying severity and hearing loss, but that can manifest a wide phenotypic heterogeneity." "" + "inborn disorder of branched-chain amino acid metabolism" "An acquired metabolic disease that is has its basis in the disruption of branched-chain amino acid metabolic process." "" + "Marden-Walker syndrome" "Marden-Walker syndrome (MWS) is a malformation syndrome characterized by multiple joint contractures (arthrogryposis), a mask-like face with blepharophimosis, micrognathia, high-arched or cleft palate, low-set ears, decreased muscular bulk, kyphoscoliosis and arachnodactyly." "" + "microcephaly-glomerulonephritis-marfanoid habitus syndrome" "This syndrome is characterised by intellectual deficit, marfanoid habitus, microcephaly, and glomerulonephritis." "" + "marfanoid habitus-autosomal recessive intellectual disability syndrome" "Marfanoid habitus B intellectual deficit, autosomal recessive is a very rare multiple congenital anomalies syndrome described in four sibs and characterized by intellectual deficit, flat face and some skeletelal features of Marfan syndrome such as tall stature, dolichostenomelia, arm span larger than height, arachnodactyly of hands and feet, little subcutaneous fat, muscle hypotonia and intellectual deficit." "" + "Marinesco-Sjogren syndrome" "Marinesco-Sjogren syndrome (MSS) belongs to the group of autosomal recessive cerebellar ataxias. Cardinal features of MSS are cerebellar ataxia, congenital cataract, and delayed psychomotor development." "" + "cerebellar ataxia with peripheral neuropathy" "True" + "cerebral disease with cataract" "True" + "mast syndrome" "Autosomal recessive spastic paraplegia type 21 is a complex type of hereditary spastic paraplegia characterized by an onset in adolescence or adulthood of slowly progressive spastic paraparesis associated with the additional manifestations of apraxia, cognitive and speech decline (leading to dementia and akinetic mutism in some cases), personality disturbances and extrapyramidal (e.g. oromandibular dyskinesia, rigidity) and cerebellar (i.e. dysdiadochokinesia and incoordination) signs. Subtle abnormalities (e.g. developmental delays) may be noted earlier in childhood. A thin corpus callosum and white matter abnormalities are equally reported on magnetic resonance imaging." "" + "pure or complex autosomal recessive spastic paraplegia" "" + "Hennekam-Beemer syndrome" "Hennekam-Beemer syndrome is characterized by the association of skin mastocytosis (appearing as diffuse pigmentation), short stature, microcephaly, conductive hearing loss, and dysmorphic features. It has been described in only two (female) cases: one with normal mental development born to consanguineous parents and the other with severe psychomotor retardation born to unrelated parents. The mode of inheritance is most likely autosomal recessive." "" + "McDonough syndrome" "A rare, multiple congenital anomalies/dysmorphic syndrome characterized by facial dysmorphsim (prominent superciliary arcs, synophrys, strabismus, large, anteverted ears, large nose, malocclusion of teeth), delayed psychomotor development, intellectual disability and congenital heart defects (e.g. pulmonic stenosis, patent ductus arteriosus, atrial septal defect). Additional features include thorax deformation (pectus excavatum/carinatum), kyphoscoliosis, diastasis recti and cryptorchidism." "" + "Meckel syndrome, type 1" "Any Meckel syndrome in which the cause of the disease is a mutation in the MKS1 gene." "" + "Meckel syndrome" "Meckel syndrome (MKS) is a rare, lethal, genetic, multiple congenital anomaly disorder characterized by the triad of brain malformation mainly occipital encephalocele, large polycystic kidneys, and polydactyly as well as associated abnormalities that may include cleft lip/palate, cardiac and genital anomalies, central nervous system (CNS) malformations, liver fibrosis, and bone dysplasia." "" + "autosomal recessive familial Mediterranean fever" "Autosomal recessive form of familial Mediterranean fever." "" + "megaepiphyseal dwarfism" "" + "megalencephaly with dysmyelination" "" + "thiamine-responsive megaloblastic anemia syndrome" "Thiamine-responsive megaloblastic anemia (TRMA) is characterized by a triad of megaloblastic anemia, non-type I diabetes mellitus, and sensorineural deafness." "" + "vitamin B12- and folate-independent constitutional megaloblastic anemia" "" + "megalocornea" "" + "megalocornea-intellectual disability syndrome" "Megalocornea-intellectual disability syndrome is a rare intellectual disability syndrome most commonly characterized by megalocornea, congenital hypotonia, varying degrees of intellectual disability, psychomotor/developmental delay, seizures, and mild facial dysmorphism (including round face, frontal bossing, antimongoloid slant of the eyes, epicanthal folds, large low set ears, broad nasal base, anteverted nostrils, and long upper lip). Interfamilial and intrafamilial clinical variability has been reported." "" + "neurocutaneous melanocytosis" "Neurocutaneous melanocytosis (NCM) is a rare congenital neurological disorder characterized by abnormal aggregations of nevomelanocytes within the central nervous system (leptomeningeal melanocytosis) associated with large or giant congenital melanocytic nevi (CMN). NCM can be asymptomatic or present as variably severe and progressive neurological impairment, sometimes resulting in death." "" + "Frank-Ter Haar syndrome" "Frank-ter Haar syndrome (formerly considered as an autosomal recessive form of Melnick-Needles syndrome) is defined by megalocornea, multiple skeletal anomalies, characteristic facial dysmorphism (wide fontanels, prominent forehead, hypertelorism, prominent eyes, full cheeks and micrognathia) and developmental delay." "" + "otopalatodigital syndrome spectrum disorder" "Otopalatodigital syndrome spectrum disorder is a primary bone dysplasia and encompasses a group of congenital anomalies that are characterized by skeletal dysplasia of varying clinical severity and an X linked dominant pattern of inheritance. This group include otopalatodigital syndrome type 1 and 2 (OPD1, OPD2) which are characterized in affected males by cleft palate, conductive hearing loss, craniofacial abnormalities and skeletal dysplasia; Melnick-Needles syndrome (MNS) which displays skeletal deformities in females and embryonic or perinatal lethality in most males; frontometaphyseal dysplasia (FMD); and terminal osseous dysplasia - pigmentary defects." "" + "intellectual disability, autosomal recessive 1" "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the PRSS12 gene." "" + "autosomal recessive non-syndromic intellectual disability" "Autosomal recessive form of non-syndromic intellectual disability." "" + "intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome" "Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome is characterised by moderate intellectual deficit, craniofacial dysmorphism (including broad nose with coloboma of the alea nasi, deep-set eyes, prognathism), hypergonadotropic hypogonadism, eunuchoid habitus, type 1 diabetes mellitus, and epilepsy. It has been described in four patients (three brothers and their sister). This syndrome is probably transmitted as an autosomal recessive trait." "" + "Mietens syndrome" "Mietens syndrome is a very rare syndrome consisting of corneal opacity, nystagmus, strabismus, flexion contracture of the elbows with dislocation of the head of the radius and abnormally short ulnae and radii." "" + "blepharophimosis - intellectual disability syndrome, Ohdo type" "Ohdo blepharophimosis syndrome (OBS) is a multiple congenital malformation syndrome characterized by blepharophimosis, ptosis, dental hypoplasia, hearing impairment and intellectual disability." "" + "intellectual disability, Buenos-Aires type" "Intellectual disability, Buenos-Aires type is a rare intellectual disability syndrome characterized by growth retardation, microcephaly, characteristic facial features (including narrow forehead, bushy eyebrows, hypertelorism, small, downward-slanting palpebral fissures with blepharoptosis, malformed and low-set ears, broad straight nose, thin upper lip, and a wide, tented mouth), developmental delay, intellectual disability, speech disorder, and multiple organ malformations (e.g. ventricular septal defect, megaloureter, dilated renal pelvis). Additional manifestations reported include neurocutaneous lesions (including palmoplantar hyperkeratosis), internal hydrocephalus, and bilateral partial soft-tissue syndactyly of second and third toe." "" + "encephalopathy due to beta-mercaptolactate-cysteine disulfiduria" "" + "mesangial sclerosis, diffuse renal, with ocular abnormalities" "" + "mesoaxial hexadactyly and cardiac malformation" "" + "Langer mesomelic dysplasia" "Langer mesomelic dysplasia (LMD) is characterized by severe disproportionate short stature with mesomelic and rhizomelic shortening of the upper and lower limbs." "" + "mesomelic dwarfism-cleft palate-camptodactyly syndrome" "Mesomelic dwarfism-cleft palate-camptodactyly syndrome is characterised by mesomelic shortening and bowing of the limbs, camptodactyly, skin dimpling and cleft palate with retrognathia and mandibular hypoplasia. It has been described in a brother and sister born to consanguineous parents. Transmission is autosomal recessive." "" + "metachromatic leukodystrophy due to saposin b deficiency" "" + "metachromatic leukodystrophy, juvenile form" "Metachromatic leukodystrophy is an inherited condition characterized by the accumulation of fats called sulfatides in cells, especially cells of the nervous system. This accumulation results in progressive destruction of white matter of the brain, which consists of nerve fibers covered by myelin.Affected individuals experience progressive deterioration of intellectual functions and motor skills, such as the ability to walk. They also develop loss of sensation in the extremities, incontinence, seizures, paralysis, inability to speak, blindness, and hearing loss. Eventually they lose awareness of their surroundings and become unresponsive. This condition is inherited in an autosomal recessive pattern and is caused by mutations in the ARSA and PSAP genes." "" + "metaphyseal acroscyphodysplasia" "Metaphyseal acroscyphodysplasia is an extremely rare form of metaphyseal dysplasia characterized by the distinctive radiological sign of cone-shaped upper tibial and lower femoral epiphyses embedded in large cup-shaped metaphyses, associated with short stature and micromelia. Upper limb involvement includes brachydactyly and phalangeal and metacarpal cone-shaped epiphyses. The association of metaphyseal acroscyphodysplasia with psychomotor delay and alopecia has also been reported in some cases." "" + "spondylometaphyseal dysplasia, Sedaghatian type" "Spondylometaphyseal dysplasia (SEMD), Sedaghatian type is a neonatal lethal form of spondylometaphyseal dysplasia characterized by severe metaphyseal chondrodysplasia, mild rhizomelic shortness of the upper limbs, and mild platyspondyly." "" + "metaphyseal chondrodysplasia, Kaitila type" "Metaphyseal chondrodysplasia, Kaitila type is a rare multiple metaphyseal dysplasia disease characterized by disproportionate short stature, short limbs and digits, tracheobronchial malacia and progressive thoracolumbar scoliosis. Radiographic imaging shows progression from marked metaphyseal dysplasia of tubular bones in childhood to short and broad bones with mild dysplasia of the joints in adulthood. There have been no further descriptions in the literature since 1982." "" + "cartilage-hair hypoplasia" "Cartilage-hair hypoplasia is a disease affecting the bone metaphyses causing small stature from birth." "" + "metaphyseal chondrodysplasia, Pena type" "" + "metaphyseal chondrodysplasia, Spahr type" "" + "metaphyseal chondrodysplasia-retinitis pigmentosa syndrome" "" + "metaphyseal dysostosis-intellectual disability-conductive deafness syndrome" "Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome is characterised by metaphyseal dysplasia, short-limb dwarfism, mild intellectual deficit and conductive hearing loss, associated with repeated episodes of otitis media in childhood. It has been described in three brothers born to consanguineous Sicilian parents. Variable manifestations included hyperopia and strabismus. The mode of inheritance is autosomal recessive." "" + "metaphyseal dysplasia, anetoderma, and optic atrophy" "" + "metaphyseal dysplasia without hypotrichosis" "" + "metaphyseal modeling abnormality, skin lesions, and spastic paraplegia" "" + "3-hydroxyisobutyryl-CoA hydrolase deficiency" "Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency is characterised by delayed motor development, hypotonia and progressive neurodegeneration. To date, it has been described in four boys. The syndrome is caused by mutations affecting the two alleles of the HIBCH gene, encoding 3-hydroxyisobutyryl-CoA hydrolase. The mode of transmission has not yet been established." "" + "methemoglobin reductase deficiency" "" + "hereditary methemoglobinemia" "Methemoglobinemia inherited in an autosomal recessive pattern. It is caused by deficiency of the enzyme NADH methemoglobin reductase or the presence of abnormal hemoglobin M. It presents with cyanosis early in life. There is no evidence of cardiopulmonary disease present." "" + "methemoglobinemia type 4" "Any methemoglobinemia in which the cause of the disease is a mutation in the CYB5A gene." "" + "methemoglobinemia due to deficiency of methemoglobin reductase" "" + "methionine adenosyltransferase deficiency" "Hypermethioninemia due to methionine adenosyltransferase deficiency is a very rare metabolic disorder resulting in isolated hepatic hypermethioninemia that is usually benign due to partial inactivation of enzyme activity. Rarely patients have been found to have an odd odor or neurological disorders such as brain demyelination." "" + "methionine malabsorption syndrome" "" + "methylcobalamin deficiency type cblG" "Methylcobalamin deficiency cbl G type is a rare condition that occurs when the body is unable to process certain amino acids (building blocks of protein) properly. In most cases, signs and symptoms develop during the first year of life; however, the age of onset can range from infancy to adulthood. Common features of the condition include feeding difficulties, lethargy, seizures, poor muscle tone (hypotonia), developmental delay, microcephaly (unusually small head size), and megaloblastic anemia. Methylcobalamin deficiency cbl G type is caused by changes (mutations) in the MTR gene and is inherited in an autosomal recessive manner. Treatment generally includes regular doses of hydroxycobalamin (vitamin B12). Some affected people may also require supplementation with folates and betaine." "" + "3-methylglutaconic aciduria type 1" "3-methylglutaconic aciduria (3-MGA) type I is an inborn error of leucine metabolism with a variable clinical phenotype ranging from mildly delayed speech to psychomotor retardation, coma, failure to thrive, metabolic acidosis and dystonia." "" + "3-methylglutaconic aciduria" "A group of five inherited disorders caused by mutations in the AUH, DNAJC19, OPA3, and TAZ genes. The disorders are characterized by impairment in the function of mitochondria, resulting in the accumulation and excretion of 3-methylglutaconic acid, and the presence of 3-methylglutaric acid in the urine." "" + "3-methylglutaconic aciduria type 4" "3-methylglutaconic aciduria (3-MGA) type IV, or unclassified 3-MGA, is a clinically heterogeneous disorder characterised by increased 3-methylglutaconic acid excretion in individuals that cannot be classified as having one of the other forms of 3-MGA (3-MGA I, II or III)." "" + "methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency" "Vitamin B12-unresponsive methylmalonic acidemia is an inborn error of vitamin B12 (cobalamin) metabolism characterized by recurrent ketoacidotic crises or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12. There are two types of vitamin B12-unresponsive methylmalonic acidemia: mut0 and mut-." "" + "vitamin B12-responsive methylmalonic acidemia type cblA" "An autosomal recessive form of methylmalonic aciduria, caused by mutation(s) in the MMAA gene, encoding MMAA protein." "" + "vitamin B12-responsive methylmalonic acidemia" "Vitamin B12-responsive methylmalonic acidemia (MA) is an inborn error of vitamin B12 (cobalamin) metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which responds to vitamin B12. There are three types: cblA, cblB and cblD-variant 2 (cblDv2)." "" + "vitamin B12-responsive methylmalonic acidemia type cblB" "An autosomal recessive form of methylmalonic aciduria, caused by mutation(s) in the MMAB gene, encoding cob(I)yrinic acid a,c-diamide adenosyltransferase, mitochondrial." "" + "methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency" "Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency is a rare inborn error of metabolism disease characterized by mild to moderate, persistent elevation of methylmalonic acid in plasma, urine and cerebrospinal fluid. Clinical presentation may include acute metabolic decompensation with metabolic acidosis (presenting with vomiting, dehydration, confusion, hallucinations), nonspecific neurological symptoms, or may also be asymptomatic." "" + "microcephalic primordial dwarfism, Toriello type" "Microcephalic primordial dwarfism, Toriello type is characterised by growth retardation with prenatal onset, cataracts, microcephaly, intellectual deficit, immune deficiency, delayed ossification and enamel hypoplasia. It has been described in two siblings. Transmission is autosomal recessive." "" + "microcephaly 1, primary, autosomal recessive" "Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the MCPH1 gene." "" + "autosomal recessive primary microcephaly" "Autosomal recessive primary microcephaly (MCPH) is a rare genetically heterogeneous disorder of neurogenic brain development characterized by reduced head circumference at birth with no gross anomalies of brain architecture and variable degrees of intellectual impairment." "" + "microcephaly-cardiomyopathy syndrome" "A syndrome characterised by severe intellectual deficit, microcephaly and dilated cardiomyopathy. Hand and foot anomalies have also been reported. The syndrome has been described in three individuals. Transmission is autosomal recessive." "" + "microcephaly-micromelia syndrome" "" + "Say-Barber-Miller syndrome" "Say-Barber-Miller syndrome is characterised by the association of unusual facial features, microcephaly, developmental delay, and severe postnatal growth retardation." "" + "immunodeficiency predominantly affecting antibody production" "" + "microcephaly-cervical spine fusion anomalies syndrome" "Microcephaly-cervical spine fusion anomalies syndrome is characterized by microcephaly, facial dysmorphism (beaked nose, low-set ears, downslanting palpebral fissures, micrognathia), mild intellectual deficit, short stature, and cervical spine fusion anomalies producing spinal cord compression. It has been described in two brothers born to consanguineous parents. Transmission is likely to be autosomal recessive." "" + "Jawad syndrome" "Jawad syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by congenital microcephaly wih facial dysmorphism (sloping forehead, prominent nose, mild retrognathia), moderate to severe, non-progressive intellectual disability and symmetrical digital malformations of variable degree, including brachydactyly of the fifth fingers with single flexion crease, clinodactyly, syndactyly, polydactyly and hallux valgus. Congenital anonychia and white café au lait-like spots on the skin of hands and feet are also associated." "" + "Nijmegen breakage syndrome" "Nijmegen breakage syndrome is a rare genetic disease presenting at birth with microcephaly, dysmorphic facial features, becoming more noticeable with age, growth delay, and later-onset complications such as malignancies and infections." "" + "microcephaly and chorioretinopathy 1" "An autosomal recessive disorder caused by mutation(s) in the TUBGCP6 gene, encoding gamma-tubulin complex component 6. It is characterized by microcephaly and chorioretinopathy." "" + "diencephalic-mesencephalic junction dysplasia syndrome 1" "" + "diencephalic-mesencephalic junction dysplasia syndrome" "" + "pseudo-TORCH syndrome" "Congenital intrauterine infection-like syndrome is characterised by the presence of microcephaly and intracranial calcifications at birth accompanied by neurological delay, seizures and a clinical course similar to that seen in patients after intrauterine infection with Toxoplasma gondii, Rubella, Cytomegalovirus, Herpes simplex (so-called TORCH syndrome), or other agents, despite repeated tests revealing the absence of any known infectious agent." "" + "Galloway-Mowat syndrome" "Galloway syndrome is characterized by the association of nephrotic syndrome and central nervous system anomalies." "" + "microcolon" "A rare congenital abnormality characterized by the presence of an abnormally small colon. It is the result of intestinal underutilization during fetal development." "" + "Desbuquois dysplasia 1" "Any Desbuquois dysplasia in which the cause of the disease is a mutation in the CANT1 gene." "" + "Desbuquois dysplasia" "Desbuquois syndrome (DBQD) is an osteochondrodysplasia characterized by severe micromelic dwarfism, facial dysmorphism, joint laxity with multiple dislocations, vertebral and metaphyseal abnormalities and advanced carpotarsal ossification. Two forms have been distinguished on the basis of the presence (type 1) or the absence (type 2) of characteristic hand anomalies. A variant form of DBQD, Kim variant, has also been described and is characterized by short stature and articular, minor facial and significant hand anomalies." "" + "microphthalmia, isolated, with coloboma 4" "" + "isolated microphthalmia 1" "A microphthalmia that has material basis in variation in the chromosomal region 14q32." "" + "microphthalmia with hyperopia, retinal degeneration, macrophakia, and dental anomalies" "" + "microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma" "" + "microtia with meatal atresia and conductive deafness" "" + "microvillus inclusion disease" "Microvillus inclusion disease (MVID) is a very rare, severe, malabsorbative syndrome characterized clinically by protracted or intractable neonatal secretory diarrhea and histologically by inclusion bodies on the intestinal epithelium." "" + "congenital enteropathy involving intestinal mucosa development" "" + "mitochondrial DNA depletion syndrome 3" "Any mitochondrial DNA depletion syndrome in which the cause of the disease is a mutation in the DGUOK gene." "" + "mitochondrial myopathy with a defect in mitochondrial-protein transport" "" + "obsolete mitochondrial myopathy with lactic acidosis" "" "true" + "obsolete mitochondrial complex I deficiency, nuclear type" "" "true" + "obsolete mitochondrial complex II deficiency" "" "true" + "orofaciodigital syndrome type II" "Oral-facial-digital (OFD) type 2 is characterized by hand and feet deformities, facial deformities, midline cleft of the upper lip and tongue hamartomas." "" + "sulfite oxidase deficiency due to molybdenum cofactor deficiency type A" "" + "sulfite oxidase deficiency due to molybdenum cofactor deficiency" "" + "sulfite oxidase deficiency due to molybdenum cofactor deficiency type B" "" + "chronic mucocutaneous candidiasis due to monocyte chemotactic disorder" "" + "Monosomy 7 myelodysplasia and leukemia syndrome 1" "" + "monosomy 7 myelodysplasia and leukemia syndrome" "" + "Morquio syndrome C" "" + "mucopolysaccharidosis type 4" "Mucopolysaccharidosis type IV (MPS IV) is a lysosomal storage disease belonging to the group of mucopolysaccharidoses, and characterised by spondylo-epiphyso-metaphyseal dysplasia. It exists in two forms, A and B." "" + "peripheral motor neuropathy-dysautonomia syndrome" "Peripheral motor neuropathy-dysautonomia syndrome is characterised by distal, slowly progressive muscular weakness, childhood-onset amyotrophy, autonomic dysfunction characterized by profuse sweating, distal cyanosis related to cold weather, orthostatic hypotension, and esophageal achalasia. It has been described in two sisters. Inheritance appears to be autosomal recessive." "" + "moyamoya disease 1" "" + "Moyamoya disease" "Moyamoya disease (MMD) is a rare intracranial arteriopathy involving progressive stenosis of the cerebral vasculature located at the base of the brain causing transient ischemic attacks or strokes." "" + "mucolipidosis type II" "Mucolipidosis II (MLII) is a slowly progressive lysosomal disorder characterized by growth retardation, skeletal abnormalities, facial dysmorphism, stiff skin, developmental delay and cardiomegaly." "" + "mucolipidosis" "A group of inherited lysosomal storage diseases characterized by accumulation of lipids and carbohydrates in the tissues, resulting in mental disabilities and skeletal malformations." "" + "obsolete pseudo-Hurler polydystrophy" "" "true" + "mucolipidosis type III gamma" "Mucolipidosis III gamma (ML 3 gamma) is a very rare lysosomal disease, that has most often been observed in the Middle East, characterized by a progressive slowing of the growth rate in early childhood; stiffness and pain in shoulders, hips, and finger joints; a gradual, mild coarsening of facial features; and by a slower progression, milder clinical course and longer life expectancy than that seen in mucolipidosis II and mucolipidosis III alpha/beta. Cognitive function is normal or only slightly impaired and retinitis pigmentosa has been reported in a few patients. Many survive into early adulthood, but ultimately succumb to cardiorespiratory insufficiency." "" + "mucolipidosis type IV" "A lysosomal storage disease characterised clinically by psychomotor retardation and visual abnormalities including corneal clouding, retinal degeneration, or strabismus." "" + "obsolete mucopolysaccharidoses, unclassified types" "" "true" + "Sanfilippo syndrome type A" "A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme heparan sulfate sulfatase. It is characterized by behavioral changes, sleep disturbances, mental developmental delays and seizures." "" + "mucopolysaccharidosis type 3" "Mucopolysaccharidosis type III (MPS III) is a lysosomal storage disease belonging to the group of mucopolysaccharidoses and characterised by severe and rapid intellectual deterioration." "" + "Sanfilippo syndrome type B" "A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme N-acetyl-alpha-D-glucosaminidase. It is characterized by behavioral changes, sleep disturbances, and mental developmental delays." "" + "Sanfilippo syndrome type C" "A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme acetyl-CoA:alpha-glucosaminide acetyltransferase. It is characterized by behavioral changes, sleep disturbances, and mental developmental delays." "" + "Sanfilippo syndrome type D" "A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme N-acetylglucosamine-6-sulfatase. It is characterized by behavioral changes, sleep disturbances and mental developmental delays." "" + "mucopolysaccharidosis type 4A" "A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme galactosamine-6-sulfatase. It is characterized by skeletal and central nervous system deficits." "" + "mucopolysaccharidosis type 4B" "A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme beta galactosidase. It is characterized by skeletal dysplasia and short stature." "" + "mucopolysaccharidosis type 6" "Mucopolysaccharidosis type 6 (MPS 6) is a lysosomal storage disease with progressive multisystem involvement, associated with a deficiency of arylsulfatase B (ASB) leading to the accumulation of dermatan sulfate." "" + "mucopolysaccharidosis type 7" "Mucopolysaccharidosis type VII (MPS VII) is a very rare lysosomal storage disease belonging to the group of mucopolysaccharidoses." "" + "mucus inspissation of respiratory tract" "" + "mulibrey nanism" "A prenatal onset growth disorder with multiorgan manifestations." "" + "disorder of defective peroxisome oxidative status" "Any peroxisomal single enzyme/protein defect that has its basis in the disruption of peroxisome oxidation." "" + "biotinidase deficiency" "Biotinidase deficiency is a late-onset form of multiple carboxylase deficiency, an inborn error of biotin metabolism that, if untreated, is characterized by seizures, breathing difficulties, hypotonia, skin rash, alopecia, hearing loss and delayed development." "" + "multiple carboxylase deficiency" "Multiple carboxylase deficiency (MCD) is a term used to describe inborn errors of biotin metabolism characterized by reduced activities of biotin-dependent enzymes resulting in a wide spectrum of symptoms, including feeding difficulty, breathing difficulties, lethargy, seizures, skin rash, alopecia, and developmental delay." "" + "holocarboxylase synthetase deficiency" "Holocarboxylase synthetase (HCS) deficiency is a life-threatening early-onset form of multiple carboxylase deficiency, an inborn error of biotin metabolism, that, if untreated, is characterized by vomiting, tachypnea, irritability, lethargy, exfoliative dermatitis, and seizures that can worsen to coma." "" + "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3" "An autosomal recessive muscular dystrophy caused by mutations in the POMGNT1 gene. It is associated with characteristic brain and eye malformations, profound mental retardation, and death usually in the first years of life." "" + "muscle-eye-brain disease" "A rare, congenital muscular dystrophy due to dystroglycanopathy characterized by early onset muscular dystrophy, severe muscular hypotonia, severe mental retardation and typical brain and eye malformations, including pachygyria, polymicrogyria, agyria, brainstem and cerebellar structural anomalies, severe myopia, glaucoma, optic nerve and retinal hypoplasia. Patients may present with seizures, macrocephaly or microcephaly, microphthalmia, and congenital contractures. Depending on the severity, limited motor function is acquired. Less severe cases have been reported." "" + "lethal multiple pterygium syndrome" "Multiple pterygium syndrome lethal type is a very rare genetic condition affecting the skin, muscles and skeleton. It is characterized by minor facial abnormalities, prenatal growth deficiency, spine defects, joint contractures, and webbing (pterygia)of the neck, elbows, back of the knees, armpits, and fingers. Fetuses with this condition are usually not born. Some of the prenatal complications include cystic hygroma, hydrops, diaphragmatic hernia, polyhydramnios, underdevelopment of the heart and lungs, microcephaly, bone fusions, joint dislocations, spinal fusion, andbone fractures. Both X-linked and autosomal recessive inheritance have been proposed. Mutations in the CHRNG, CHRNA1, and CHRND genes have been found to cause this condition." "" + "spinal muscular atrophy, type 1" "Proximal spinal muscular atrophy type 1 (SMA1) is a severe infantile form of proximal spinal muscular atrophy characterized by severe and progressive muscle weakness and hypotonia resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei." "" + "proximal spinal muscular atrophy" "Proximal spinal muscular atrophies are a group of neuromuscular disorders characterized by progressive muscle weakness resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei." "" + "lethal congenital contracture syndrome 1" "Lethal congenital contracture syndrome type 1 is a rare, genetic arthrogryposis syndrome characterized by total fetal akinesia (detectable since the 13th week of gestation) accompanied by hydrops, micrognathia, pulmonary hypoplasia, pterygia and multiple joint contractures (usually flexion contractures in the elbows and extension in the knees), leading invariably to death before the 32nd week of gestation. Lack of anterior horn motoneurons, severe atrophy of the ventral spinal cord and severe skeletal muscle hypoplasia are characteristic neuropathological findings, with no evidence of other organ structural anomalies." "" + "lethal congenital contracture syndrome" "A syndrome characterized by congenital nonprogressive joint contractures. The contractures can involve the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension limitations evident at birth." "" + "intellectual disability-myopathy-short stature-endocrine defect syndrome" "Intellectual disability-myopathy-short stature-endocrine defect syndrome is a rare congenital myopathy syndrome characterized by nonprogressive myopathy (manifesting with mild facial and generalized weakness, bilateral ptosis, and severe lumbar lordosis), severe intellectual disability, short stature, and sexual infantilism (due to hypogonadotropic hypogonadism). The presence of a small pituitary fossa was also noted. There have been no further descriptions in the literature since 1985." "" + "spinal muscular atrophy, type III" "Proximal spinal muscular atrophy type 3 (SMA3) is a relatively mild form of proximal spinal muscular atrophy characterized by muscle weakness and hypotonia resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei." "" + "spinal muscular atrophy, type II" "Proximal spinal muscular atrophy type 2 (SMA2) is a chronic infantile form of proximal spinal muscular atrophy characterized by muscle weakness and hypotonia resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei." "" + "muscular dystrophy, adult-onset, with leukoencephalopathy" "" + "autosomal recessive limb-girdle muscular dystrophy type 2A" "Autosomal recessive limb-girdle muscular dystrophy type 2A (LGMD2A) is a subtype of autosomal recessive limb girdle muscular dystrophy characterized by a variable age of onset of progressive, typically symmetrical and selective weakness and atrophy of proximal shoulder- and pelvic-girdle muscles (gluteus maximus, thigh adductors, and muscles of the posterior compartment of the limbs are most commonly affected) without cardiac or facial involvement. Clinical manifestations include exercise intolerance, a waddling gait, scapular winging and calf pseudo-hypertrophy." "" + "qualitative or quantitative defects of calpain" "" + "autosomal recessive limb-girdle muscular dystrophy type 2B" "Autosomal recessive limb-girdle muscular dystrophy type 2B (LGMD2B) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by an onset in late adolescence or early adulthood of slowly progressive, proximal weakness and atrophy of shoulder and pelvic girdle muscles. Cardiac and respiratory muscles are not involved. Hypertrophy of the calf muscles and highly elevated serum creatine kinase levels are frequently observed." "" + "qualitative or quantitative defects of dysferlin" "" + "autosomal recessive limb-girdle muscular dystrophy type 2C" "Autosomal recessive limb-girdle muscular dystrophy type 2C (LGMD2C) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a childhood onset of progressive shoulder and pelvic girdle muscle weakness and atrophy frequently associated with calf hypertrophy, diaphragmatic weakness, and/or variable cardiac abnormalities. Mild to moderate elevated serum creatine kinase levels and positive Gowers sign are reported." "" + "qualitative or quantitative defects of gamma-sarcoglycan" "" + "neuromuscular disease with dilated cardiomyopathy" "True" + "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4" "Fukuyama type muscular dystrophy (FCMD) is a congenital progressive muscular dystrophy characterized by brain malformation (cobblestone lissencephaly), dystrophic changes in skeletal muscle, severe intellectual deficit, epilepsy and motor impairment." "" + "myopathy caused by variation in FKTN" "Any myopathy in which the cause of the disease is a variation in the FKTN gene." "" + "arthrogryposis due to muscular dystrophy" "" + "congenital muscular dystrophy-infantile cataract-hypogonadism syndrome" "Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome is characterized by congenital muscular dystrophy, infantile cataract and hypogonadism. It has been described in seven individuals from an isolated Norwegian village and in one unrelated individual. Transmission appears to be autosomal recessive." "" + "Ullrich congenital muscular dystrophy 1" "" + "collagen 6-related myopathy" "A qualitative or quantitative defect of collagen 6 disorder that covers a wide spectrum of musculoskeletal phenotypes caused by dominant and recessive mutations in the three major collagen VI genes: COL6A1, COL6A2, and COL6A3. These variants lead to a variety of overlapping phenotypes, ranging from severe congenital muscle weakness, hypotonia, torticollis and contractures with loss or non-development of ambulation on one end and childhood to adult onset mild muscle weakness, stiffness, and joint hyperlaxity on the other." "" + "muscular dystrophy, congenital, with rapid progression" "" + "autosomal recessive limb-girdle muscular dystrophy type 2H" "Autosomal recessive limb-girdle muscular dystrophy type 2H (LGMD2H) is a mild subtype of autosomal recessive limb girdle muscular dystrophy characterized by slowly progressive proximal muscle weakness and wasting of the pelvic and shoulder girdles with onset that usually occurs during the second or third decade of life. Clinical presentation is variable and can include calf psuedohypertrophy, joint contractures, scapular winging, muscle cramping and/or facial and respiratory muscle involvement." "" + "qualitative or quantitative defects of TRIM32" "" + "muscular hypertonia, lethal" "" + "Miyoshi myopathy" "A distal myopathy, characterized by weakness in the distal lower extremity posterior compartment (gastrocnemius and soleus muscles) and associated with difficulties in standing on tip toes." "" + "autosomal recessive distal myopathy" "Autosomal recessive form of distal myopathy." "" + "musk, inability to smell" "" + "myasthenia, congenital, refractory to acetylcholinesterase inhibitors" "" + "immune-mediated acquired neuromuscular junction disease" "" + "channelopathy" "A disease caused by disturbed function of ion channel subunits or the proteins that regulate them." "" + "congenital myasthenic syndrome 6" "Congenital myasthenic syndrome caused by mutation(s) in the CHAT gene, encoding choline O-acetyltransferase. It is inherited in an autosomal recessive manner." "" + "presynaptic congenital myasthenic syndrome" "" + "congenital myasthenic syndrome 10" "Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the DOK7 gene." "" + "postsynaptic congenital myasthenic syndrome" "" + "mycosis fungoides" "Classical mycosis fungoides is the most common type of mycosis fungoides (MF), a form of cutaneous T-cell lymphoma, and is characterized by slow progression from patches to more infiltrated plaques and eventually to tumors." "" + "mycosis fungoides and variants" "Mycosis fungoides (MF) and its variants represent the most common forms of cutaneous T-cell lymphomas. The term MF is restricted to the classical form characterized by the slow progression of patches, plaques and tumors, and to variants with a similar indolent course." "" + "acquired aplastic anemia" "An instance of aplastic anemia that is acquired during the lifetime of the individual." "" + "myeloperoxidase deficiency" "" + "myeloproliferative disease, autosomal recessive" "" + "juvenile myoclonic epilepsy" "Juvenile myoclonic epilepsy is the most common hereditary idiopathic generalized epilepsy syndrome and is characterized by myoclonic jerks of the upper limbs on awakening, generalized tonic-clonic seizures manifesting during adolescence and triggered by sleep deprivation, alcohol intake, and cognitive activities, and typical absence seizures (30% of cases)." "" + "Lafora disease" "Lafora disease (LD) is a rare, inherited, severe, progressive myoclonic epilepsy characterized by myoclonus and/or generalized seizures, visual hallucinations (partial occipital seizures), and progressive neurological decline." "" + "progressive myoclonus epilepsy" "A rare group of disorders characterized by the development of myoclonic and tonic-clonic epileptic seizures associated with progressive degeneration of the nervous system." "" + "Unverricht-Lundborg syndrome" "Unverricht-Lundborg disease (ULD) is a rare progressive myoclonic epilepsy disorder characterized by action- and stimulus-sensitive myoclonus, and tonic-clonic seizures with ataxia, but with only a mild cognitive decline over time." "" + "action myoclonus-renal failure syndrome" "Action myoclonus-renal failure syndrome (AMRF) is a rare epilepsy syndrome characterized by progressive myoclonus epilepsy in association with primary glomerular disease. Patients present with neurologic symptoms (including tremor, action myoclonus, tonic-clonic seizures, later ataxia and dysarthria) that may precede, occur simultaneously or be followed by renal manifestations including proteinuria that progresses to nephrotic syndrome and end-stage renal disease. In some patients, sensorimotor peripheral neuropathy, sensorineural hearing loss and dilated cardiomyopathy are associated symptoms." "" + "Carey-Fineman-Ziter syndrome" "Carey-Fineman-Ziter (CFZ) syndrome is a rare condition characterized by the association of hypotonia, Moebius sequence (bilateral congenital facial palsy with impairment of ocular abduction), Pierre-Robin sequence (micrognathia, glossoptosis, and high-arched or cleft palate), unusual face, and growth delay." "" + "myopathy, granulovacuolar lobular, with electrical myotonia" "" + "myopathy due to malate-aspartate shuttle defect" "" + "myopathy with abnormal lipid metabolism" "" + "carnitine palmitoyl transferase II deficiency, myopathic form" "The myopathic form of carnitine palmitoyltransferase II (CPT II) deficiency, an inherited metabolic disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the most common and the least severe form of CPT II deficiency." "" + "carnitine palmitoyltransferase II deficiency" "Carnitine palmitoyltransferase II (CPT II) deficiency is an inherited metabolic disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA). Three forms of CPT II deficiency have been described: a myopathic form, a severe infantile form and a neonatal form." "" + "carnitine palmitoyl transferase 1A deficiency" "Carnitine palmitoyltransferase 1A (CPT-1A) deficiency is an inborn error of metabolism that affects mitochondrial oxidation of long chain fatty acids (LCFA) in the liver and kidneys, and is characterized by recurrent attacks of fasting-induced hypoketotic hypoglycemia and risk of liver failure." "" + "inherited fatty acid metabolism disorder" "A group of genetic disorders that result from the inability to produce or use an enzyme required to oxidize fatty acids, resulting in an inability to generate energy from fatty acid sources." "" + "hereditary myopathy with lactic acidosis due to ISCU deficiency" "Aconitase deficiency is characterised by myopathy with severe exercise intolerance and deficiencies of skeletal muscle succinate dehydrogenase and aconitase." "" + "mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes" "True" + "myopathy with giant abnormal mitochondria" "" + "myopathy, myosin storage, autosomal recessive" "" + "hyaline body myopathy" "" + "myopathy, centronuclear, 2" "Any centronuclear myopathy in which the cause of the disease is a mutation in the BIN1 gene." "" + "autosomal recessive centronuclear myopathy" "Autosomal recessive centronuclear myopathy (AR-CNM) is an inherited neuromuscular disorder defined by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy." "" + "congenital myotonia" "" + "congenital fiber-type disproportion myopathy" "A rare genetic disorder caused by mutations in the TPM3, ACTA1, RYR1 or SEPN1 genes. It is inherited in an autosomal dominant or recessive pattern and rarely in an X-linked pattern. It manifests with myopathy throughout the body, particularly in the muscles of the shoulders, upper arms, hips, and thighs. Affected individuals may have contractures, lordosis, or scoliosis. In a minority of cases mild to severe breathing problems may occur." "" + "qualitative or quantitative defects of alpha-actin" "" + "qualitative or quantitative defects of selenoprotein N1" "" + "qualitative or quantitative defects of tropomyosin" "" + "TPM3-related myopathy" "TPM3-related myopathy is a disorder of the musculoskeletal system that covers a wide spectrum of phenotypes and is caused by pathogenic variants in the skeletal muscle γ-Tropomyosin gene. These variants lead to a variety of overlapping adult onset and congenital myopathies characterized by muscle weakness, hypotonia, motor delay, myopathic facies, scoliosis, and sometimes respiratory involvement. Histologic findings on skeletal muscle biopsy are variable with nemaline and intranuclear bodies, cap-like lesions, fiber-type disproportion, and dystrophic features even in patients with the same mutation." "" + "congenital multicore myopathy with external ophthalmoplegia" "An autosomal recessive condition caused by mutation(s) in the RYR1 gene, encoding ryanodine receptor 1. It may be characterized clinically by neonatal hypotonia, delayed motor development, and generalized muscle weakness, and amyotrophy. Pathologically, the absence of mitochondria and focal disorganization of the sarcomere appear as \"minicores\" on ATPase staining as a result of focal defects in oxidative activity." "" + "multiminicore myopathy" "Multi-minicore Disease (MmD) is a hereditary neuromuscular disorder characterized by multiple cores on muscle biopsy and clinical features of a congenital myopathy." "" + "myopia 18, autosomal recessive" "" + "myosclerosis" "Myosclerosis is a rare, genetic, non-dystrophic myopathy characterized by early, diffuse, progressive muscle and joint contractures that result in severe limitation of movement of axial, proximal, and distal joints, walking difficulties in early childhood and toe walking. Patients typically present thin, sclerotic muscles with a woody consistency, mild girdle and proximal limb weakness with moderate distal weakness and scoliosis. Muscle biopsy shows partial collagen VI deficiency at the myofiber basement membrane and absent collagen VI around most endomysial/perimysial capillaries." "" + "myotonia congenita, autosomal recessive" "Autosomal recessive form of myotonia congenita." "" + "Richieri Costa-da Silva syndrome" "" + "Schwartz-Jampel syndrome" "A rare, genetic neuromuscular disease characterized by permanent myotonia, mask-like facies (with blepharospasm, narrow palpebral fissures, small mouth with pursed lips and puckered chin) , and chondrodysplasia (variably manifesting with short stature, pectus carinatum, kyphoscoliosis, bowing of long bones, epiphyseal, metaphyseal, and hip dysplasia)." "" + "myxedema" "A condition characterized by severe hypothyroidism that is caused by autoimmune thyroid gland disorders, surgical reduction of thyroid tissue, radiation exposure, and viral infections. Signs and symptoms include generalized fatigue, lethargy, increased body weight, pale, edematous and thickened skin, low blood pressure, constipation and cold intolerance." "" + "familial atrial myxoma" "" + "inherited cardiac tumor" "An instance of heart cancer that is caused by a modification of the individual's genome." "" + "Keipert syndrome" "Keipert syndrome is a rare multiple congenital anomalies syndrome characterized by facial dysmorphism (hypertelorism, broad and high nasal bridge, depressed nasal ridge, short columella, underdeveloped maxilla, and prominent cupid-bow upper lip vermillion), mild to severe congenital sensorineural hearing loss, and skeletal abnormalities consisting of brachytelephalangy and broad thumbs and halluces with large, rounded epiphyses. Additional manifestations that have been reported include pulmonary valve stenosis, voice hoarseness and renal agenesis." "" + "Nathalie syndrome" "Nathalie syndrome is characterised by deafness, cataract, muscular atrophy, skeletal abnormalities, growth retardation, underdeveloped secondary sexual characteristics, and electrocardiographic abnormalities. It has been described in a Dutch family: in three sisters (one named Nathalie) and their brother." "" + "Bailey-Bloch congenital myopathy" "Bailey-Bloch congenital myopathy is a neuromuscular disorder characterized by weakness, arthrogryposis, kyphoscoliosis, short stature, cleft palate, ptosis and susceptibility to malignant hyperthermia during anesthesia." "" + "mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies" "Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies is a group of clinically heterogeneous diseases, commonly defined by lack of cellular energy due to defects of oxidative phosphorylation (OXPHOS), resulting from pathogenic mutations in the nuclear DNA. Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies includes diseases classified according to defects in: genes encoding structural components of OXPHOS complexes (such as Leigh syndrome, coenzyme Q10 deficiency); genes encoding assembly factors of OXPHOS complexes (such as GRACILE syndrome); genes altering the stability of mitochondrial DNA (such as autosomal dominant progressive external ophthalmoplegia, mitochondrial DNA depletion syndrome); mitochondrial protein synthesis." "True" + "supranuclear oculomotor palsy" "Oculomotor palsy that arises from lesions in the supranuclear pathways controlling extraocular movement." "" + "mitochondrial disease with eye involvement" "True" + "nail-patella-like renal disease" "Nail-patella-like renal disease is a severe nephropathy characterised by renal dysfunction, proteinuria, oedema and microscopic haematuria. It has been described in three brothers, two of which died from end-stage renal insufficiency." "" + "nemaline myopathy 2" "An autosomal recessive inherited myopathy caused by mutations in the NEB gene. It is characterized by generalized hypotonia and skeletal muscle weakness." "" + "proteosome-associated autoinflammatory syndrome" "" + "atelosteogenesis type II" "Atelosteogenesis II is a lethal perinatal bone dysplasia characterized by limb shortening, normal sized skull with cleft palate, hitchhiker thumbs, distinctive facial dysmorphism and radiographic skeletal features, caused by mutations in the diastrophic dysplasia sulfate transporter gene." "" + "nephronophthisis 1" "Progressive tubulointerstitial nephritis inherited in an autosomal recessive manner. It is caused by mutations in the NPHP1 gene. Patients present with anemia, polyuria, and polydipsia during childhood. The progressive bilateral kidney damage results in renal failure." "" + "nephronophthisis" "Progressive tubulointerstitial injury, inherited in an autosomal recessive pattern, caused by mutations in genes involved in ciliary function, which may result in an end stage renal failure." "" + "nephropathy - deafness - hyperparathyroidism syndrome" "Nephropathy-deafness-hyperparathyroidism syndrome is characterised by renal failure without haematuria, parathyroid hyperplasia and sensorineural deafness. It has been described in five children born to consanguineous patents. The mode of inheritance appears to be autosomal recessive." "" + "obsolete nephrosialidosis" "" "true" + "nephrosis-deafness-urinary tract-digital malformations syndrome" "Nephrosis-deafness-urinary tract-digital malformations syndrome is characterised by anomalies of the urinary tract, thumbs and big toes, deafness and nephrosis. It has been described in five brothers. The mode of transmission has not been clearly established but seems to be either autosomal recessive or X-linked dominant." "" + "congenital nephrotic syndrome, Finnish type" "Congenital nephrotic syndrome, Finnish type is characterised by protein loss beginning during foetal life." "" + "nephrotic syndrome, type 4" "Nephrotic syndrome within the first three motnhs of life, characterized initially by increased mesangial matrix, with or without hypertrophy and hyperplasia of podocytes, and eventual glomerular sclerosis." "" + "hyperinsulinemic hypoglycemia, familial, 1" "Any hyperinsulinemic hypoglycemia in which the cause of the disease is a mutation in the ABCC8 gene." "" + "Netherton syndrome" "Netherton syndrome (NS) is a skin disorder characterized by congenital ichthyosiform erythroderma (CIE), a distinctive hair shaft defect (trichorrhexis invaginata; TI) and atopic manifestations." "" + "autosomal ichthyosis syndrome with prominent hair abnormalities" "True" + "genetic keratinization disorder associated with ocular features" "True" + "obsolete eyebrow/eyelashes structural anomaly" "" "true" + "Neu-Laxova syndrome 1" "Any Neu-Laxova syndrome in which the cause of the disease is a mutation in the PHGDH gene." "" + "galactosialidosis" "A lysosomal storage disease characterized by coarse facial features, macular ''cherry red spot'', and dysostosis multiplex. Clinical presentation can be heterogenous ranging from a severe, early-onset, rapidly progressive infantile form to late onset, slowly progressive juvenile/adult form." "" + "metabolic disease with macular cherry-red spot" "True" + "sialidosis type 2" "Sialidosis type 2 (ST-2) is a rare lysosomal storage disease, and the severe, early onset form of sialidosis characterized by a progressively severe mucopolysaccharidosis-like phenotype (coarse facies, dysostosis multiplex, hepatosplenomegaly), macular cherry-red spots as well as psychomotor and developmental delay. ST-2 displays a broad spectrum of clinical severity with antenatal/congenital, infantile and juvenile presentations." "" + "sialidosis" "Sialidosis is a lysosomal storage disease, belonging to the group of oligosaccharidoses or glycoproteinoses, with a wide clinical spectrum that is divided into two main clinical subtypes: sialidosis type I, the milder, non dysmorphic form of the disease characterized by gait abnormalities, progressive visual loss, bilateral macular cherry red spots and myoclonus, that presents in adolescence or adulthood (second or third decade of life); and sialidosis type II the more severe, early onset form, characterized by a progressive and severe mucopolysaccharidosis-like phenotype with coarse facies, visceromegaly, dysostosis multiplex, and developmental delay. Bilateral macular cherry red spots are also present. Sialidosis type II has been further divided into congenital (with hydrops fetalis), infantile and juvenile presentations." "" + "obsolete infantile neuroaxonal dystrophy" "" "true" + "neurofaciodigitorenal syndrome" "Neurofaciodigitorenal syndrome is a rare, multiple developmental anomalies syndrome characterized by neurological abnormalities (including megalencephaly, hypotonia, intellectual disability, abnormal EEG), dysmorphic facial features (high prominent forehead, grooved nasal tip, ptosis, ear anomalies) and acrorenal defects (such as triphalangism, broad halluces, unilateral renal agenesis). Additionally, intrauterine growth restriction, short stature and congenital heart defects may be associated. There have been no further descriptions in the literature since 1997." "" + "neuroblastoma, susceptibility to" "" + "neuroectodermal melanolysosomal disease" "Elejalde syndrome (ES) is characterized by silvery to leaden hair, bronze skin colour in sun-exposed areas and severe neurological impairment." "" + "neurologic disease, infantile multisystem, with osseous fragility" "" + "neuronal ceroid lipofuscinosis 1" "A condition associated with mutation(s) in the PPT1 gene, encoding palmitoyl-protein thioesterase 1. The condition is one of a group of genetically heterogeneous neurodegenerative disorders, characterized by accumulation of intracellular lipopigments." "" + "infantile neuronal ceroid lipofuscinosis" "A form of neuronal ceroid lipofuscinosis (NCL) characterized by onset during the second half of the first year of life and rapid mental and motor deterioration leading to loss of all psychomotor abilities." "" + "neuronal ceroid lipofuscinosis 5" "Neuronal ceroid lipofuscinosis 5 (CLN5-NCL) is a rare condition that affects the nervous system. Signs and symptoms of the condition generally develop between ages 4.5 and 7 years, although later onset cases have been reported. Affected people may experience loss of muscle coordination (ataxia), seizures that do not respond to medications, muscle twitches (myoclonus), visual impairment, and cognitive/motor decline. It occurs predominantly in the Finnish population. CLN5-NCL is caused by changes (mutations) in the CLN5 gene and is inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms." "" + "hereditary sensory and autonomic neuropathy type 4" "Hereditary sensory and autonomic neuropathy, type 4 (HSAN4) is an inherited disorder characterized by anhidrosis, insensitivity to pain, self-mutilating behavior and episodes of fever." "" + "Navajo neurohepatopathy" "" + "hereditary sensory and autonomic neuropathy with spastic paraplegia" "This syndrome is characterized by the association of an axonal sensory and autonomic neuropathy with spastic paraplegia." "" + "autosomal recessive complex spastic paraplegia" "Autosomal recessive form of complex hereditary spastic paraplegia." "" + "giant axonal neuropathy 1" "Giant axonal neuropathy (GAN) is a degenerative disorder that is characterised by a progressive motor and sensitive peripheral and central nervous system neuropathy." "" + "neuropathy, hereditary motor and sensory, with excessive myelin folding complex, autosomal recessive" "" + "neuropathy, hereditary sensory, atypical" "A hereditary sensory neuropathy characterized by late onset of sensory ataxia without ulcerating acropathy or autonomic abnormalities." "" + "neuropathy, painful" "" + "obsolete neurovisceral storage disease with Curvilinear bodies" "" "true" + "neutropenia, lethal congenital, with eosinophilia" "" + "neutrophil actin dysfunction" "Solitary or multiple, slightly raised, pigmented lesions with irregular borders, usually measuring more than 0.6cm in greatest dimension. Morphologically, there is melanocytic atypia and the differential diagnosis from melanoma may be difficult. Patients are at an increased risk for the development of melanoma." "" + "Niemann-Pick disease type A" "Niemann-Pick disease type A is a very severe subtype of Niemann-Pick disease, an autosomal recessive lysosomal disease, and is characterized clinically by onset in infancy or early childhood with failure to thrive, hepatosplenomegaly, and rapidly progressive neurodegenerative disorders." "" + "Niemann-Pick disease, type C1" "Type C Niemann-Pick disease associated with a mutation in the gene NPC1, encoding Niemann-Pick C1 protein." "" + "Niemann-Pick disease type C" "NPC is a complex lipid storage disease mainly characterized by the accumulation of unesterified cholesterol in the late endosomal/lysosomal compartment." "" + "congenital stationary night blindness 1B" "Any congenital stationary night blindness in which the cause of the disease is a mutation in the GRM6 gene." "" + "mosaic variegated aneuploidy syndrome 1" "Any mosaic variegated aneuploidy syndrome in which the cause of the disease is a mutation in the BUB1B gene." "" + "Norman-Roberts syndrome" "Lissencephaly syndrome, Norman-Roberts type is characterised by the association of lissencephaly type I with craniofacial anomalies (severe microcephaly, a low sloping forehead, a broad and prominent nasal bridge and widely set eyes) and postnatal growth retardation." "" + "microlissencephaly" "Microlissencephaly describes a heterogenous group of a rare cortical malformations characterized by lissencephaly in combination with severe congenital microcephaly, presenting with spasticity, severe developmental delay, and seizures and with survival varying from days to years." "" + "cystic hygroma" "A benign lymphatic neoplasm usually arising from the neck and characterized by cystic dilation of the lymphatic vessels." "" + "common cystic lymphatic malformation" "" + "nystagmus, congenital, autosomal recessive" "" + "obesity-hypoventilation syndrome" "Hypoventilation syndrome in very obese persons with excessive adipose tissue around the abdomen and diaphragm is characterized by diminished to absent ventilatory chemoresponsiveness; chronic hypoxia; hypercapnia; polycythemia; and long periods of sleep during day and night (hypersomnolence). It is a condition often related to obstructive sleep apnea but can occur separately." "" + "ocular motor apraxia, Cogan type" "Ocular motor apraxia, Cogan type is characterised by impairment of voluntary horizontal eye movements and compensatory head thrust. Around 50 cases have been described so far. The oculomotor manifestations tend to improve with age but the syndrome may also be associated with learning and speech difficulties, or, in some cases, cerebral malformations. Both sporadic and familial forms have been described, with sporadic forms being more frequent. The mode of transmission of the familial form has not yet been clearly established. A gene located on the long arm of chromosome 2, near to the NPHP1 gene involved in nephronophthisis, may be associated with ocular motor apraxia, Cogan type." "" + "ocular myopathy with curare sensitivity" "" + "oculocerebral hypopigmentation syndrome of Preus" "" + "oculocerebral hypopigmentation syndrome, Cross type" "Oculocerebral hypopigmentation syndrome, Cross type is a rare congenital syndrome characterized by cutaneous and ocular hypopigmentation, various ocular anomalies (e.g. corneal and lens opacity, spastic ectropium, and/or nystagmus), growth deficiency, intellectual deficit and other progressive neurologic anomalies such as spastic tetraplegia, hyperreflexia, and/or athetoid movements. The clinical picture varies among patients and may also include other anomalies such as urinary tract abnormalities, Dandy-Walker malformations, and/or bilateral inguinal hernia." "" + "oculodentodigital dysplasia, autosomal recessive" "Autosomal recessive form of oculodentodigital dysplasia." "" + "oculo-palato-cerebral syndrome" "Oculopalatocerebral syndrome is characterised by the association of four anomalies: intellectual deficit, microcephaly, palate anomalies and ocular abnormalities." "" + "3MC syndrome 1" "Any 3MC syndrome in which the cause of the disease is a mutation in the MASP1 gene." "" + "oculotrichodysplasia" "Oculotrichodysplasia is characterised by retinitis pigmentosa, trichodysplasia, dental anomalies, and onychodysplasia. It has been described in two siblings (brother and sister) born to first cousin parents. Transmission appears to be autosomal recessive." "" + "oculorenocerebellar syndrome" "" + "odonto-onycho-dermal dysplasia" "A form of ectodermal dysplasia characterised by hyperkeratosis and hyperhidrosis of the palms and soles, atrophic malar patches, hypodontia, conical teeth, onychodysplasia, and dry and sparse hair." "" + "cloacal exstrophy" "A major birth defect representing the severe end of the spectrum of the exstrophy-epispadias complex (EEC) characterized by omphalocele, exstrophy, imperforate anus and spinal defects (also referred to as the OEIS complex), often associated with other malformations." "" + "bladder exstrophy-epispadias-cloacal exstrophy complex" "A spectrum of genitourinary malformations ranging in severity from epispadias (E) and classical bladder exstrophy (CEB) to exstrophy of the cloaca (EC) as the most severe form. Depending on severity, the EEC may involve the urinary system, the musculoskeletal system, the pelvis, the pelvic floor, the abdominal wall, the genitalia and sometimes the spine and the anus." "" + "Oguchi disease-1" "Any Oguchi disease in which the cause of the disease is a mutation in the SAG gene." "" + "Oguchi disease" "Oguchi disease is an autosomal recessive retinal disorder characterized by congenital stationary night blindness and the Mizuo-Nakamura phenomenon." "" + "spermatogenic failure 1" "" + "Oliver syndrome" "Oliver syndrome is a very rare syndrome characterized by intellectual deficit, postaxial polydactyly, and epilepsy." "" + "olivopontocerebellar atrophy II, autosomal recessive" "" + "autosomal recessive omodysplasia" "Autosomal recessive form of omodysplasia." "" + "lethal omphalocele-cleft palate syndrome" "Lethal omphalocele-cleft palate syndrome is characterized by the association of omphalocele and cleft palate. It has been described in three daughters of normal unrelated parents. They were all diagnosed at birth. One had omphalocele, posterior cleft palate, and uterus bicornuatus; she died at 2 months. The second had omphalocele, cleft uvula, and hydrocephalus and died at 4 months; the third had omphalocele and cleft palate and died at 1 year. This syndrome is likely to be inherited as an autosomal recessive condition." "" + "Onychotrichodysplasia and neutropenia" "" + "ophthalmoplegia totalis with ptosis and miosis" "" + "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1" "Any autosomal recessive progressive external ophthalmoplegia in which the cause of the disease is a mutation in the POLG gene." "" + "autosomal recessive progressive external ophthalmoplegia" "Autosomal recessive form of progressive external ophthalmoplegia." "" + "ophthalmoplegic neuromuscular disorder with abnormal mitochondria" "" + "opsismodysplasia" "Opsismodysplasia is a skeletal dysplasia characterized by congenital dwarfism and facial dysmorphism." "" + "optic atrophy 6" "" + "autosomal recessive optic atrophy" "" + "3-methylglutaconic aciduria type 3" "3-methylglutaconic aciduria type III (MGA III) is an organic aciduria characterised by the association of optic atrophy and choreoathetosis with 3-methylglutaconic aciduria." "" + "optic atrophy, hearing loss, and peripheral neuropathy, autosomal recessive" "" + "Charcot-Marie-Tooth disease X-linked recessive 5" "X-linked Charcot-Marie-Tooth disease type 5 is a rare, genetic, peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the infancy- to childhood-onset of: 1) progressive distal muscle weakness and atrophy (first appearing and more prominent in the lower extremities than the upper) which usually manifests with foot drop and gait disturbance, 2) bilateral, profound, prelingual sensorineural hearing loss and 3) progressive optic neuropathy. Females are asymptomatic and do not display the phenotype." "" + "nonarteritic anterior ischemic optic neuropathy, susceptibility to" "" + "Opticocochleodentate degeneration" "" + "oral sensibility, disturbance of" "" + "ichthyosis-oral and digital anomalies syndrome" "Ichthyosis-oral and digital anomalies syndrome is characterised by ichthyosis, unusual facies (small mouth with a thin upper lip and lower lip with a midline groove) and digital anomalies (tapered fingers with a lack of distal flexion creases and wide spacing between the second and third fingers). It has been described in two sibs born to first cousin parents. Transmission appears to be autosomal recessive." "" + "orofaciodigital syndrome III" "Oral-facial-digital syndrome, type 3 is characterized by anomalies of the mouth, eyes and digits, associated with severe intellectual deficit." "" + "orofaciodigital syndrome IV" "Oral-facial-digital syndrome, type 4 is characterized by lingual hamartoma, postaxial polysyndactyly of hands and feet, and mesomelic shortening of the legs with supinate equinovarus feet." "" + "orofaciodigital syndrome IX" "Oral-facial-digital syndrome, type 9 is characterized by highly arched palate with bifid tongue and bilateral supernumerary lower canines, hamartomatous tongue, multiple frenula, hypertelorism, telecanthus, strabismus, broad and/or bifid nasal tip, short stature, bifid halluces, forked metatarsal, poly- and syndactyly, mild intellectual deficit and specific retinal abnormalities (bilateral optic disc coloboma and retinal dysplasia with partial detachment)." "" + "ornithine aminotransferase deficiency" "A very rare inherited retinal dystrophy characterized by progressive chorioretinal atrophy, myopia and early cataract." "" + "inborn disorder of ornithine metabolism" "An acquired metabolic disease that is has its basis in the disruption of ornithine metabolic process." "" + "orotic aciduria" "An extremely rare autosomal recessive inherited disorder caused by mutations in the UMPS gene. It is characterized by deficiency of the activity of the pyrimidine pathway enzyme uridine 5'-monophosphate (UMP) synthase. Clinical manifestations include growth retardation, anemia, and increased excretion of orotic acid in the urine." "" + "intellectual disability-cataracts-calcified pinnae-myopathy syndrome" "Intellectual disability-cataracts-calcified pinnae-myopathy syndrome is a rare, genetic intellectual disability syndrome characterized by macrocephaly, hypotonia, dysmorphic facial features (wide forehead, ptosis, downslanting palpebral fissures, enlarged and calcified external ears, large jaw), sparse body hair, tall stature, and intellectual disability. Hearing loss, insulin-resistant diabetes, and progressive distal muscle wasting (leading to joint contractures) have also been reported in adulthood. Rare manifestations include behavioral abnormalities (aggression and restlessness), hypothyroidism, cerebral calcification, ataxia, and peripheral neuropathy." "" + "obsolete pachydermoperiostosis" "" "true" + "Blount disease, adolescent" "" + "familial osteodysplasia, Anderson type" "Familial osteodysplasia, Anderson type is a rare, genetic dysostosis disorder characterized by craniofacial bone abnormalities (i.e. midface hypoplasia, broad, flat nasal bridge, narrow, thin prognathic mandible with pointed chin, malocclusion, partial dental agenesis) associated with additional osseous anomalies, including scoliosis, calvarial thinning, pointed spinous processes, clinodactyly and abnormal phalanges. Elevated erythrocyte sedimentation rate, hyperuricemia and hypertension have also been reported. There have been no further descriptions in the literature since 1982." "" + "osteodysplasty, precocious, of Danks, Mayne, and Kozlowski" "" + "congenital osteogenesis imperfecta-microcephaly-cataracts syndrome" "Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome is characterised by multiple fractures in the prenatal period, microcephaly and bilateral cataracts. It has been described in three infants all of whom died in utero or a few hours after birth. The mode of inheritance appears to be autosomal recessive." "" + "osteogenesis imperfecta type 3" "Osteogenesis imperfecta type III is a severe type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. The main signs of type III include very short stature, a triangular face, severe scoliosis, grayish sclera, and dentinogenesis imperfecta (DI)." "" + "osteogenesis imperfecta type 9" "Any osteogenesis imperfecta in which the cause of the disease is a mutation in the PPIB gene." "" + "Bruck syndrome 1" "Any Bruck syndrome in which the cause of the disease is a mutation in the FKBP10 gene." "" + "Bruck syndrome" "Bruck syndrome is characterised by the association of osteogenesis imperfecta and congenital joint contractures." "" + "osteoid osteoma" "A small, benign, bone-forming neoplasm that can arise from any bone but more frequently affects the long bones. The central portion of the neoplasm (nidus) contains differentiated osteoblasts which produce osteoid and sometimes bone. The lesion is usually surrounded by hypervascular sclerotic bone and has limited growth potential. Clinical signs and symptoms include pain and localized tenderness, at the site of the lesion. The pain may be intense but in the majority of cases it is completely alleviated by non-steroidal anti-inflammatory drugs. Prognosis is excellent and recurrences are rare." "" + "benign osteogenic neoplasm" "A non-metastasizing bone-forming neoplasm. This category includes osteoma, osteoid osteoma, and osteoblastoma." "" + "multicentric osteolysis, nodulosis, and arthropathy" "A rare, autosomal recessive inherited syndrome caused by mutations in the MMP2 gene. It is characterized by the presence of multiple, painless subcutaneous nodules, osteolysis particularly in the hands and feet, osteoporosis, and arthropathy." "" + "Torg-Winchester syndrome" "True" + "autosomal recessive distal osteolysis syndrome" "Autosomal recessive distal osteolysis syndrome is an early-onset distal osteolysis characterised by severe resorption of the hands and feet and absence of the distal and middle phalanges. It has been described in a son and daughter born to consanguineous parents. Other manifestations include distal muscular hypertrophy, flexion contractures, short stature, mild intellectual deficit and characteristic facies (maxillary hypoplasia, exophthalmos, and a broad nasal tip). It is transmitted as an autosomal recessive trait." "" + "osteoma of middle ear" "" + "osteomalacia, sclerosing, with cerebral calcification" "" + "chronic recurrent multifocal osteomyelitis" "Chronic non bacterial osteomyelitis (CNO), also known as chronic recurrent multifocal osteomyelitis (CRMO), is a chronic autoinflammatory syndrome that is characterized by multiple foci of painful swelling of bones, mainly in the metaphyses of the long bones, in addition to the pelvis, the shoulder girdle and the spine." "" + "pyogenic autoinflammatory syndrome" "" + "osteopenia-intellectual disability-sparse hair syndrome" "Kaler-Garrity-Stern syndrome is a rare syndrome, described in two sisters of Mennonite descent, characterized by sparse hair, osteopenia, intellectual disability, minor facial abnormalities, joint laxity and hypotonia. There have been no further descriptions in the literature since 1992." "" + "autosomal recessive osteopetrosis 1" "Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the TCIRG1 gene." "" + "autosomal recessive osteopetrosis" "An autosomal recessive form of osteopetrosis caused by mutation(s) in at least 8 genes related to osteoclast function. This condition is characterized by the failure of osteoclasts to resorb bone, resulting in impaired bone modeling/remodeling, and skeletal fragility despite increased bone mass; it is also associated with hematopoietic insufficiency, hypocalcemia, disturbed tooth eruption, nerve entrapment syndromes, and growth impairment. Some cases are also associated with progressive neurological deterioration." "" + "autosomal recessive osteopetrosis 2" "Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the TNFSF11 gene." "" + "autosomal recessive osteopetrosis 5" "Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the OSTM1 gene." "" + "infantile osteopetrosis with neuroaxonal dysplasia" "This syndrome is characterized by osteopetrosis, agenesis of the corpus callosum, cerebral atrophy and a small hippocampus." "" + "autosomal recessive osteopetrosis 3" "Osteopetrosis with renal tubular acidosis is a rare disorder characterized by osteopetrosis, renal tubular acidosis (RTA), and neurological disorders related to cerebral calcifications." "" + "obsolete idiopathic juvenile osteoporosis" "" "true" + "osteoporosis-pseudoglioma syndrome" "Osteoporosis pseudoglioma syndrome is a very rare autosomal recessive disorder characterized by congenital or infancy-onset blindness and severe juvenile-onset osteoporosis and spontaneous fractures." "" + "lethal osteosclerotic bone dysplasia" "Lethal osteosclerotic bone dysplasia is defined by generalized osteosclerosis with periosteal bone formation, characteristic facial dysmorphism, brain abnormalities including intracerebral calcifications, and neonatal lethal course." "" + "otoonychoperoneal syndrome" "" + "primary hyperoxaluria type 1" "A rare disorder of glyoxylate metabolism characterized by the accumulation of oxalate due to a deficiency of the peroxisomal hepatic enzyme L-alanine: glyoxylate aminotransferase (AGT). Clinical presentation is variable, ranging from occasional symptomatic nephrolithiasis to nephrocalcinosis and end-stage renal disease with systemic involvement." "" + "alanine glyoxylate aminotransferase deficiency" "Any disorder of plasmalogen biosynthesis in which the cause of the disease is a mutation in the AGXT gene." "" + "primary hyperoxaluria type 2" "Primary hyperoxaluria (PH) type 2 is a rare disorder of glyoxylate metabolism caused by the deficiency of the enzyme glyoxylate reductase/hydropyruvate reductase (GR/HPR) characterized by a childhood onset with clinical manifestations that include recurrent nephrolithiasis, nephrocalcinosis and end-stage renal disease with subsequent systemic oxalosis." "" + "5-oxoprolinase deficiency" "5-Oxoprolinase deficiency is clinically a very heterogeneous condition characterized by 5-oxoprolinuria." "" + "PA polymorphism of alpha-2-globulin" "" + "pachyonychia congenita, autosomal recessive" "" + "palant cleft palate syndrome" "" + "pallidal degeneration, progressive, with retinitis pigmentosa" "" + "obsolete pancreatic insufficiency, combined exocrine" "" "true" + "subacute sclerosing panencephalitis" "Subacute sclerosing panencephalitis (SSPE) is a chronic progressive encephalitis that develops a few years after measles infection and presents with a demyelination of the cerebral cortex." "" + "chronic encephalitis" "Chronic form of encephalitis." "" + "pancreatitis, sclerosing cholangitis, and sicca complex" "" + "choroid plexus papilloma" "Papilloma of the choroid plexus is a rare benign type of choroid plexus tumor, accounting for 1% of all brain tumors, often occurring in the fourth ventricle (in adults) and the lateral ventricle (in children) but sometimes arising ectopically in the brain parenchyma, and presenting with nausea, vomiting, papilledema, abnormal eye movements, as well as enlarged head circumference, seizures and gait impairment due to an increase in intracranial pressure." "" + "benign choroid plexus neoplasm" "" + "Parana hard-skin syndrome" "A rare disorder characterized by rigid, thick skin that covers the entire body and affects movements. The movement of the chest and abdomen is severely restricted. Affected individuals develop respiratory insufficiency which may lead to death." "" + "progressive supranuclear palsy-parkinsonism syndrome" "PSP-parkinsonism (PSP-P) is an atypical variant of progressive supranuclear palsy (PSP), a rare late-onset neurodegenerative disease." "" + "atypical progressive supranuclear palsy syndrome" "Atypical progressive supranuclear palsy (atypical PSP) is a group of clinical syndromes associated with underlying PSP-tau pathology, that do not conform to the classic presentation of PSP (Richardson syndrome), a rare late-onset neurodegenerative disease. The group comprises PSP-Parkinsonism (PSP-P), PSP-Pure akinesia with gait freezing (PSP-PAGF), PSP-corticobasal syndrome (PSP-CBS) and PSP-progressive non fluent aphasia (PSP-PNFA)." "" + "Partington-Anderson syndrome" "" + "PEHO syndrome" "PEHO (Progressive encephalopathy with Edema, Hypsarrhythmia and Optic atrophy) syndrome is a rare neurodegenerative disorder belonging to the group of infantile progressive encephalopathies." "" + "Pelger-Huet-like anomaly and episodic fever with abdominal pain" "" + "hypomyelinating leukodystrophy 3" "Any leukodystrophy in which the cause of the disease is a mutation in the AIMP1 gene." "" + "Pelizaeus-Merzbacher-like disease" "Pelizaeus-Merzbacher like disease (PMLD) is an autosomal recessive leukodystrophy sharing identical clinical and radiological features as X-linked Pelizaeus-Merzbacher disease (PMD)." "" + "pellagra-like syndrome" "" + "pelviscapular dysplasia" "Pelviscapular dysplasia (Cousin syndrome) is characterized by the association of pelviscapular dysplasia with epiphyseal abnormalities, congenital dwarfism and facial dysmorphism." "" + "pentosuria" "Pentosuria is an inborn error of metabolism which is characterized by the excretion of 1 to 4 g of the pentose L-xylulose in the urine per day." "" + "disorders of pentose/polyol metabolism" "" + "pericardial effusion, chronic" "Chronic form of pericardial effusion (disease)." "" + "dissecting cellulitis of the scalp" "Dissecting cellulitis of the scalp is a rare chronic suppurative dermatosis of the scalp that mainly affects black men and that is characterized by multiple painful inflammatory follicular and perifollicular nodules, pustules, and abscesses that interconnect via sinus tracts and eventually result in scarring alopecia." "" + "hyperimmunoglobulinemia D with periodic fever" "Hyperimmunoglobinemia D with periodic fever (HIDS) is a rare autoinflammatory disease characterized by periodic attacks of fever and a systemic inflammatory reaction (cervical lymphadenopathy, abdominal pain, vomiting, diarrhea, arthralgias and skin signs)." "" + "mevalonate kinase deficiency" "" + "periodontitis, chronic, adult" "" + "peripheral neuropathy, ataxia, focal necrotizing encephalopathy, and spongy degeneration of brain" "" + "constitutional megaloblastic anemia due to vitamin B12 metabolism disorder" "True" + "Imerslund-Grasbeck syndrome" "Imerslund-Grasbeck syndrome (IGS) or selective vitamin B12 (cobalamin) malabsorption with proteinuria is a rare autosomal recessive disorder characterized by vitamin B12 deficiency commonly resulting in megaloblastic anemia, which is responsive to parenteral vitamin B12 therapy and appears in childhood." "" + "peroneus tertius muscle, absence of" "" + "d-bifunctional protein deficiency" "A genetic disorder that affects the ability of the body to effectively break down fat from our diet. It is typically characterized by hypotonia (low muscle tone) and seizures in the newborn period. Other symptoms include unusual facial features and an enlarged liver (hepatomegaly). Most babies with this condition nevergain anydevelopmental skills and do not survive past the age of 2. DBP deficiency is caused by mutations in the HSD17B4 gene and is inherited in an autosomal recessive manner. Some researchers have suggested classifying DBP deficiency into three subtypes, depending on how severely the mutation in the HSD17B4 gene affects the function of the gene and the protein that it codes for. Almost all individuals with types I, II, and III have similar signs and symptoms. A fourth subtype has additionally been proposed for individuals that have less severe symptoms. While there is no cure for DBP deficiency, treatment is focused on improving nutrition and growth, controlling symptoms, and limiting the progression of liver disease." "" + "disorder of peroxisomal beta oxidation" "" + "Peters plus syndrome" "Peters plus syndrome is an autosomal recessively inherited syndromic developmental defect of the eye characterized by a variable phenotype including Peters anomaly and other anterior chamber eye anomalies, short limbs, limb abnormalities (i.e. rhizomelia and brachydactyly), characteristic facial features (upper lip with cupid bow, short palpebral fissures), cleft lip/palate, and mild to severe developmental delay/intellectual disability. Other associated abnormalities reported in some patients include congenital heart defects (i.e. hypoplastic left heart, absence of right pulmonary vein, bicuspid pulmonary valve), genitourinary anomalies (hydronephrosis, renal hypoplasia, renal and ureteral duplication, multicystic dysplastic kidneys, glomerulocystic kidneys) and congenital hypothyroidism." "" + "persistent Mullerian duct syndrome" "Persistent Mullerian duct syndrome (PMDS) is a rare disorder of sex development (DSD) characterized by the persistence of Müllerian derivatives, the uterus and/or fallopian tubes, in otherwise normally virilized boys." "" + "46,XY disorder of sex development of endocrine origin" "" + "Pfeiffer-Palm-Teller syndrome" "Pfeiffer-Palm-Teller syndrome is a very rare dysmorphic syndrome described in two sibs and characterized by a short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice, cup-shaped ears, and narrow palpebral fissures with epicanthal folds, and intellectual deficit." "" + "PHAVER syndrome" "Phaver syndrome is a very rare syndrome characterized by the association of limb Pterygia, Heart anomalies, Autosomal recessive inheritance, Vertebral defects, Ear anomalies and Radial defects." "" + "phenformin 4-hydroxylation" "" + "phenylketonuria" "Phenylketonuria (PKU) is the most common inborn error of amino acid metabolism and is characterized by mild to severe mental disability in untreated patients." "" + "disorder of phenylalanine metabolism" "" + "dihydropteridine reductase deficiency" "Dihydropteridine reductase (DHPR) deficiency is a severe form of hyperphenylalaninemia (HPA) due to impaired regeneration of tetrahydrobiopterin (BH4), leading to decreased levels of neurotransmitters (dopamine, serotonin) and folate in cerebrospinal fluid, and causing neurological symptoms such as psychomotor delay, hypotonia, seizures, abnormal movements, hypersalivation, and swallowing difficulties." "" + "hyperphenylalaninemia due to tetrahydrobiopterin deficiency" "Hyperphenylalaninemia (HPA) due to tetrahydrobiopterin (BH4) deficiency, also known as malignant HPA is an amino acid disorder with neonatal onset that is clinically characterized by the classic manifestations of phenylketonuria (PKA) and that later on is clinically differentiated by neurologic symptoms such as microcephaly, intellectual disability, central hypotonia, delayed motor development, peripheral spasticity and seizures, that develop and persist despite an established metabolic control of plasma phenylalanine." "" + "tetrahydrobiopterin metabolic process disease" "A disease that has its basis in the disruption of tetrahydrobiopterin metabolic process." "" + "BH4-deficient hyperphenylalaninemia A" "An autosomal recessive condition caused by mutation(s) in the PTS gene, encoding 6-pyruvoyl tetrahydrobiopterin synthase. It is characterized by BH4-defecient hyperphenylalanemia, depletion of dopamine and serotonin, and progressive cognitive and motor deficits." "" + "phosphoenolpyruvate carboxykinase deficiency, mitochondrial" "" + "phosphoenolpyruvate carboxykinase deficiency" "Phosphoenolpyruvate carboxykinase (PEPCK) deficiency is a gluconeogenesis disorder that results from impairment in the enzyme PEPCK, and comprising cytosolic (PEPCK1) and mitochondrial (PEPCK2) forms of enzyme deficiency. Onset of symptoms is neonatal or a few months after birth and includes hypoglycemia associated with acute episodes of severe lactic acidosis, progressive neurological deterioration, severe liver failure, renal tubular acidosis and Fanconi syndrome. Patients also present progressive multisystem damage with failure to thrive, muscular weakness and hypotonia, developmental delay with seizures, spasticity, lethargy, microcephaly and cardiomyopathy. To date, there is no conclusive evidence of the existence of an isolated form of this disorder." "" + "glycogen storage disease due to phosphoglycerate mutase deficiency" "A rare, autosomal recessive, inherited disorder caused by mutation of the PGAM2 gene. It is characterized by non-spherocytic hemolytic anemia, exercise-induced cramping, myoglobinuria, and presence of tubular aggregates on muscle biopsy." "" + "phosphoenolpyruvate carboxykinase deficiency, cytosolic" "PEPCK1 deficiency is a rare inborn error of metabolism disorder, characterized by the deficiency of the enzyme PEPCK1, one of the enzymes needed for gluconeogenesis, the process by which organisms produce sugars (namely glucose) from non-carbohydrate precursors (such as amino acids). The symptoms described in the few cases reported in the medical literature suggest that there may be variation in the severity of the symptoms ranging from severe early-onset cases, to milder late-onset presentations. In severe cases symptoms may include persistent and very low levels of blood's sugar in newborns (neonatal hypoglycemia), failure to thrive, build-up of lactic acid in the blood (lactic acidosis), liver enlargement (hepatomegaly) and liver failure leading to neurological degeneration. Milder cases present during childhood with fewer and less serious liver problems. Infections and fasting may trigger the symptoms. PEPCK1 deficiency inheritance is autosomal recessive. It is caused by mutations in the PEPCK1 gene. Some researchers believe that the severity of the disease depend upon the mutations resulting in less or more PEPCK1 activity (the more active the enzyme is, the less severe the disease is, and vice versa). Treatment depend on the symptoms and may include giving extra carbohydrates during heavy exercise and illness or other times of fasting (formal sick day regimen) by the dietitian.PEPCK1 is the cytosolic form of the phosphoenolpyruvate carboxykinase (PEPCK) enzyme, the other being the mitochondrial (PEPCK2)." "" + "lethal congenital glycogen storage disease of heart" "Any glycogen storage disease in which the cause of the disease is a mutation in the PRKAG2 gene." "" + "hypertrophic cardiomyopathy 6" "Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the PRKAG2 gene." "" + "glycogen storage disease IXb" "Glycogen storage disease (GSD) due to liver and muscle phosphorylase kinase (PhK) deficiency is a benign inborn error of glycogen metabolism. It is the mildest form of GSD due to PhK deficiency." "" + "glycogen storage disease due to phosphorylase kinase deficiency" "Glycogen storage disease (GSD) due to phosphorylase kinase deficiency is a group of inborn errors of glycogen metabolism that is clinically and genetically heterogeneous. This group comprises GSD due to liver phosphorylase kinase (PhK) deficiency, GSD due to muscle PhK deficiency and GSD due to liver and muscle PhK deficiency." "True" + "glycogen storage disease due to liver phosphorylase kinase deficiency" "A benign form of phosphorylase kinase deficiency caused by variants in PHKA2 or PHKG2 and characterized by hepatomegaly, growth retardation, and mild delay in motor development during childhood." "" + "isolated Pierre-Robin syndrome" "Pierre-Robin syndrome (or Pierre-Robin sequence) is characterised by triad of orofacial morphological anomalies consisting of retrognathism, glossoptosis and a posterior median velopalatal cleft." "" + "pili torti" "Pili torti is a hair shaft abnormality characterized by flat hair that is twisted at irregular intervals. Hair is normal at birth but progressively stops growing long and becomes fragile. Pili torti can be isolated or occur in association with syndromes such as Menkes disease or Bazex syndrome." "" + "pili torti-developmental delay-neurological abnormalities syndrome" "Pili torti-developmental delay-neurological abnormalities syndrome is characterized by growth and developmental delay, mild to moderate neurologic abnormalities, and pili torti. It has been described in a brother and his sister born to consanguineous Puerto Rican parents." "" + "Bjornstad syndrome" "Bjrnstad syndrome is characterized by congenital sensorineural hearing loss and pili torti. Less than fifty cases have been reported so far. The hearing loss usually becomes evident very early in life, often in the first year. Pili torti, a condition in which the hair shaft is flattened and twisted, makes the hair very brittle and patients develop hair loss in the first two years of life. Bjrnstad syndrome is transmitted as an autosomal recessive condition. It is caused by mutations in the BCS1L gene. Mutations in this gene also cause GRACILE syndrome." "" + "pilodental dysplasia-refractive errors syndrome" "Pilodental dysplasia-refractive errors syndrome is a rare ectodermal dysplasia syndrome characterized by dysplastic abnormalities of the hair and teeth (including hypodontia, abnormally shaped teeth, scalp hypotrichosis and pili annulati), follicular hyperkeratosis on the trunk and limbs, and hyperopia. Intensified delineation, reticular hyperpigmentation of the nape and astigmatism have also been reported. There have been no further descriptions in the literature since 1985." "" + "Rabson-Mendenhall syndrome" "Rabson-Mendenhall syndrome belongs to the group of extreme insulin-resistance syndromes (which also includes leprechaunism, the lipodystrophies, and the type A and B insulin resistance syndromes)." "" + "achromatopsia 3" "Any achromatopsia in which the cause of the disease is a mutation in the CNGB3 gene." "" + "CNGB3 retinopathy" "A retinopathy caused by biallelic variants in the CNGB3 gene." "" + "isolated growth hormone deficiency type IA" "An isolated growth hormone deficiency characterized by autosomal recessive inheritance of severe dwarfism with onset by 6 months of age and variable development of antibodies to growth hormone following exogenous supplementation that has material basis in null mutations in the GH1 gene on chromosome 17q23.3." "" + "Laron syndrome" "Laron syndrome is a congenital disorder characterized by marked short stature associated with normal or high serum growth hormone (GH) and low serum insulin-like growth factor-1 (IGF-I) levels which fail to rise after exogenous GH administration." "" + "growth hormone insensitivity syndrome" "Growth hormone insensitivity syndrome (GHIS) is a group of diseases characterized by marked short stature associated with normal or elevated growth hormone (GH) concentrations, which fail to respond to exogenous GH administration. GHIS comprises growth delay due to IGF-1 deficiency, growth delay due to IGF-1 resistance, Laron syndrome, short stature due to STAT5b deficiency and primary acid-labile subunit (ALS) deficiency." "" + "pituitary hormone deficiency, combined, 2" "Any combined pituitary hormone deficiencies, genetic form in which the cause of the disease is a mutation in the PROP1 gene." "" + "panhypopituitarism" "Insufficient production of all the anterior pituitary hormones." "" + "short stature due to growth hormone qualitative anomaly" "Short stature due to growth hormone qualitative anomaly is characterised by growth retardation and short stature (despite the presence of normal or slightly elevated levels of immunoreactive growth hormone, GH), low concentrations of insulin-like growth factor-I (IGF-I) and a significant increase in growth rate following recombinant GH therapy. Prevalence is unknown but only a few cases have been reported in the literature. The syndrome is caused by various mutations in the GH1 gene (17q22-q24) that result in structural GH anomalies and a biologically inactive molecule. Transmission is autosomal recessive." "" + "short stature-pituitary and cerebellar defects-small sella turcica syndrome" "Short stature-pituitary and cerebellar defects-small sella turcica syndrome is characterised by short stature, anterior pituitary hormone deficiency, small sella turcica, and a hypoplastic anterior hypophysis associated with pointed cerebellar tonsils. It has been described in three generations of a large French kindred. Ectopia of the posterior hypophysis was observed in some patients. The syndrome is transmitted as a dominantly inherited trait and is caused by a germline mutation within the LIM-homeobox transcription factor LHX4 gene (1q25)." "" + "pituitary dwarfism with large sella turcica" "" + "plasma clot retraction factor, deficiency of" "" + "alpha-2-plasmin inhibitor deficiency" "Congenital alpha2 antiplasmin deficiency is a rare hemorrhagic disorder caused by congenital deficiency of alpha2 antiplasmin, leading to dysregulated fibrinolysis and is characterized by a hemorrhagic tendency presenting from childhood with prolonged bleeding and ecchymoses following minor trauma and spontaneous bleeding episodes (often in unusual locations like diaphysis of long bones). Congenital alpha2 antiplasmin deficiency is inherited in an autosomal recessive manner." "" + "platelet prostacyclin receptor defect" "" + "Scott syndrome" "Scott syndrome is an extremely rare congenital hemorrhagic disorder characterized by hemorrhagic episodes due to impaired platelet coagulant activity." "" + "pleoconial myopathy with salt craving" "" + "desquamative interstitial pneumonia" "A rare idiopathic interstitial pneumonia characterized by accumulation of macrophages in alveolar spaces and interstitial inflammation. It usually occurs in smokers. Some patients develop progressive interstitial lung fibrosis." "" + "polycystic kidney, cataract, and congenital blindness" "" + "autosomal recessive polycystic kidney disease" "Autosomal recessive polycystic kidney disease (ARPKD) is an inherited disorder characterised by the development of cysts affecting the collecting ducts. It is frequently associated with hepatic involvement." "" + "Gillessen-Kaesbach-Nishimura syndrome" "" + "ALG9-CDG" "A form of congenital disorders of N-linked glycosylation characterized by progressive microcephaly, hypotonia, developmental delay, drug-resistant infantile epilepsy, and hepatomegaly. Additional features that may be observed include failure to thrive, pericardial effusion, renal cysts, skeletal dysplasia, facial dysmorphism (frontal bossing, hypertelorism, depressed nasal bridge, low-seated ears, large mouth) and hydrops fetalis. The disease is caused by loss-of-function mutations in the gene ALG9 (11q23)." "" + "acquired polycythemia vera" "Polycythemia vera (PV) is an acquired myeloproliferative disorder characterized by an elevated absolute red blood cell mass caused by uncontrolled red blood cell production, frequently associated with uncontrolled white blood cell and platelet production." "" + "erythroid neoplasm" "" + "Chuvash polycythemia" "Chuvash erythrocytosis is a rare, genetic, congenital secondary polycythemia disorder characterized by increased hemoglobin, hematocrit and erythropoietin serum levels and normal oxygen affinity, which usually manifests with headache, dizziness, dyspnea and/or plethora. Patients present an increased risk of hemorrhage, thrombosis and early death." "" + "congenital secondary polycythemia" "" + "polydactyly, postaxial, type A5" "" + "short-rib thoracic dysplasia 6 with or without polydactyly" "A group of rare, autosomal recessive inherited disorders characterized by a constricted thoracic cage, short ribs, and a 'trident' appearance of the acetabular roof. Polydactyly may or may not be present. Other abnormalities include cleft lip and palate and abnormalities of the brain, eye, heart, liver, pancreas, intestine, kidney, and genitalia." "" + "short rib-polydactyly syndrome, Majewski type" "" + "postaxial polydactyly-dental and vertebral anomalies syndrome" "Postaxial polydactyly-dental and vertebral anomalies syndrome is a rare, genetic, developmental defect during embryogenesis syndrome characterized by postaxial polydactyly and other abnormalities of the hands and feet (e.g. brachydactyly, broad toes), hypoplasia and fusion of the vertebral bodies, as well as dental abnormalities (fused teeth, macrodontia, hypodontia, short roots). There have been no further descriptions in the literature since 1977." "" + "polymyoclonus, infantile" "" + "adult polyglucosan body disease" "Adult polyglucosan body disease (APBD) is a glycogen storage disease of adults characterized by progressive upper and lower motor neuron dysfunction, progressive neurogenic bladder and cognitive difficulties that can lead to dementia." "" + "polysaccharide, storage of unusual" "" + "polyhydramnios, chronic idiopathic" "" + "polysyndactyly-cardiac malformation syndrome" "Polysyndactyly-cardiac malformation syndrome is characterized by polysyndactyly, hexadactyly (duplication of the first toe) and complex cardiac malformation (including atrial and ventricular septal defect, single ventricle, aortic dextroposition, or dilation of the right heart). It has been described in six patients from three unrelated families. Other manifestations were present in some patients (i.e. facial dysmorphism, hepatic cysts)." "" + "Bartsocas-Papas syndrome" "Bartsocas-Papas syndrome is a rare, inherited, popliteal pterygium syndrome characterized by severe popliteal webbing, microcephaly, a typical face with short palpebral fissures, ankyloblepharon, hypoplastic nose, filiform bands between the jaws and facial clefts, oligosyndactyly, genital abnormalities, and additional ectodermal anomalies (i.e. absent hair, eyebrows, lashes, nails). It is often fatal in the neonatal period, but patients living until childhood have been reported." "" + "cutaneous porphyria" "Congenital erythropoietic porphyria, or Günther disease, is a form of erythropoietic porphyria characterized by very severe and mutilating photodermatosis." "" + "anemia due to erythrocyte enzyme disorder" "Any form of anemia that results from the absence of, or the defective action of, any enzyme involved in erythropoiesis." "" + "postaxial acrofacial dysostosis" "Postaxial acrofacial dysostosis (POADS) is a type of acrofacial dysostosis characterised by mandibular and malar hypoplasia, small and cup-shaped ears, lower lid ectropion, and symmetrical postaxial limb deficiencies with absence of the fifth digital ray and ulnar hypoplasia." "" + "Gitelman syndrome" "Gitelman syndrome (GS), also referred to as familial hypokalemia-hypomagnesemia, is characterized by hypokalemic metabolic alkalosis in combination with significant hypomagnesemia and low urinary calcium excretion." "" + "urban-Rogers-Meyer syndrome" "This syndrome is characterized by intellectual deficit, short stature, obesity, genital abnormalities, and hand and/or toe contractures. It has been described in two brothers and in one isolated case. The patients also present with generalized osteoporosis and a history of frequent fractures. This syndrome is similar to Prader-Willi syndrome, but the hand contractures and osteoporosis, together with the lack of hypotonia, indicate this is a different entity." "" + "prenatal bowing" "" + "Prepapillary vascular loops" "" + "pterin-4 alpha-carbinolamine dehydratase 1 deficiency" "Pterin-4 alpha-carbinolamine dehydratase 1 (PCBD1) deficiency is considered a transient and benign form of hyperphenylalaninemia due to tetrahydrobiopterin deficiency, characterized by muscular hypotonia, irritability (detected by EEG), slow acquisition of psychomotor skills, age-dependent movement disorders, including dystonia and an accompanying excretion of 7-substituted pterins. Neurological developement is normal with dietary control of blood phenyalanine. PCBD1 is inherited in an autosomal recessive manner." "" + "progesterone resistance" "" + "Wiedemann-Rautenstrauch syndrome" "Wiedemann-Rautenstrauch syndrome is a very rare disorder with features of premature aging recognizable at birth, decreased subcutaneous fat, hypotrichosis, relative macrocephaly and dysmorphism." "" + "prolactin deficiency, isolated" "" + "prolactin deficiency with obesity and enlarged testes" "" + "prune belly syndrome with pulmonic stenosis, intellectual disability, and deafness" "" + "pseudodiastrophic dysplasia" "Pseudodiastrophic dysplasia is characterized by rhizomelic shortening of the limbs and severe clubfoot deformity, in association with elbow and proximal interphalangeal joint dislocations, platyspondyly, and scoliosis. It has been described in about 10 patients. An autosomal recessive inheritance has been suggested. Pseudodiastrophic dysplasia differs from diastrophic dysplasia on the basis of clinical, radiographic, and histopathologic findings. Clubfoot can be treated by surgical therapy, and neonatal contractures and scoliosis can be relieved by physical therapy. Several of the reported patients died in the neonatal period or during infancy." "" + "46,XX disorder of sex development-skeletal anomalies syndrome" "" + "46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency" "Decreased activity of the steroidogenic enzyme, 17-beta-hydroxysteroid dehydrogenase, associated with mutation(s) in the HSD17B3 gene, leading to reduced testosterone production." "" + "46,XY disorder of sex development" "Differences of sex development in individuals with 46,XY karyotype." "" + "46,XY disorder of sex development due to testicular steroidogenesis defect" "True" + "autosomal recessive pseudohypoaldosteronism type 1" "Generalized pseudohypoaldosteronism type 1 (generalized PHA1) is a severe form of primary mineralocorticoid resistance with systemic involvement and salt loss in multiple organs." "" + "fundus dystrophy, pseudoinflammatory, recessive form" "" + "peroxisomal acyl-CoA oxidase deficiency" "Peroxisomal acyl-CoA oxidase deficiency is a rare neurodegenerative disorder that belongs to the group of inherited peroxisomal disorders and is characterized by hypotonia and seizures in the neonatal period and neurological regression in early infancy." "" + "peroxisomal disease with epilepsy" "True" + "Acrootoocular syndrome" "Acro-oto-ocular syndrome is a very rare disorder associating pseudopapilledema (optic disc swelling not secondary to increased intracranial pressure), mixed hearing loss, facial dysmorphism and limb extremity anomalies." "" + "holoprosencephaly-postaxial polydactyly syndrome" "Holoprosencephaly-postaxial polydactyly syndrome associates, in chromosomally normal neonates, holoprosencephaly, severe facial dysmorphism, postaxial polydactyly and other congenital abnormalities, suggestive of trisomy 13." "" + "Pseudouridinuria and mental defect" "" + "46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency" "A rare disorder of sex development (DSD) due to a defect in metabolizing testosterone to dihydrotestosterone and characterized by incomplete intrauterine masculinization which ranges from a female genitalia with a blind vaginal pouch to a fully male phenotype with pseudovaginal posterior hypospadias and micropenis." "" + "46,XY disorder of sex development due to a defect in testosterone metabolism by peripheral tissue" "True" + "vitamin D-dependent rickets, type 1" "Hypocalcemic vitamin D-dependent rickets (VDDR-I) is an early-onset hereditary vitamin D metabolism disorder characterized by severe hypocalcemia leading to osteomalacia and rachitic bone deformations, and moderate hypophosphatemia." "" + "hypocalcemic rickets" "Hypocalcemic rickets is a group of genetic diseases characterized by hypocalcemia and rickets. It comprises hypocalcemic vitamin D dependent rickets (VDDR-I) and hypocalcemic vitamin D resistant rickets (HVDRR)." "" + "vitamin D-dependent rickets" "" + "pseudoxanthoma elasticum (inherited or acquired)" "An inherited disorder that causes calcium and other minerals to accumulate in the elastic fibers of the skin, eyes, and blood vessels, and less frequently in other areas such as the digestive tract." "" + "autosomal recessive multiple pterygium syndrome" "A rare congenital disorder, this is the non-lethal variant of multiple pterygium syndrome, characterized by orthopedic and craniofacial abnormalities, pterygium and akinethesia. The majority of cases are autosomal dominant." "" + "3MC syndrome 2" "Any 3MC syndrome in which the cause of the disease is a mutation in the COLEC11 gene." "" + "pulmonary alveolar microlithiasis" "Pulmonary alveolar microlithiasis is a disorder in which tiny fragments (microliths) of calcium phosphate gradually accumulate in the small air sacs (alveoli) of the lungs. These deposits eventually cause widespread damage to the alveoli and surrounding lung tissue (interstitial lung disease). People with this disorder may also develop a persistent cough and difficulty breathing (dyspnea), especially during physical exertion. Chest pain that worsens when coughing, sneezing, or taking deep breaths is another common feature. People with pulmonary alveolar microlithiasismay also develop calcium phosphate deposits in other organs and tissue of the body. Though the course of the disease can be variable,many casesslowly progress to lung fibrosis, respiratory failure, or cor pulmonale. The only effective therapy is lung transplantation. In some cases, pulmonary alveolar microlithiasis is caused by mutations in the SLC34A2 gene and inherited in an autosomal recessive manner." "" + "neonatal acute respiratory distress due to SP-B deficiency" "" + "primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies" "Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies is a group of interstitial lung diseases (ILD) induced by genetic mutations disrupting surfactant function and gas exchange in the lung. The disorders caused by these mutations affect full-term infants and older children and exhibit considerable overlap in their clinical and histologic presentation." "True" + "pulmonary arteriovenous malformation" "Pulmonary arteriovenous malformation (PAVM) describes an anatomic communication between a pulmonary artery and a pulmonary vein leading to a right to left extracardiac shunt that can be asymptomatic or can lead to varying manifestations such as dyspnea, hemoptysis, and neurological symptoms." "" + "pulmonary atresia-intact ventricular septum syndrome" "Pulmonary atresia with intact ventricular septum (PA-IVS) is a rare form of cyanotic congenital heart malformation characterized by severe cyanosis and tachypnea. PA-IVS presents significant morphologic diversity: at the end of the spectrum are patients with a mildly hypoplastic and tripartite right ventricle (RV) and mild tricuspid valve (TV) hypoplasia, and at the other end are patients with severe RV and TV hypoplasia, often with RV-dependent coronary circulation." "" + "pulmonary artery or pulmonary branch anomaly" "" + "hypoplastic right heart syndrome" "Hypoplastic right-heart syndrome (HRHS) is a rare, cyanotic congenital heart malformation caused by underdevelopment of the right-sided heart structures (tricuspid valve, RV, pulmonary valve, and pulmonary artery) commonly associated with an atrial septal defect, ostium secundum type. Pulmonary blood flow is diminished and right-to-left shunting occurs at the atrial level, leading to dyspnea, fatigue, atrial arrhythmias, right-sided heart failure, hypoxemia, repeated miscarriages that were mostly due to hypoxemia and cyanosis. Two subtypes of HRHS have been characterized: pulmonary atresia-intact ventricular septum and right ventricular hypoplasia." "" + "pulmonary bullae causing pneumothorax" "" + "congenital pulmonary lymphangiectasia" "Congenital pulmonary lymphangiectasia (PL) is a rare developmental disorder involving the lung and characterized by pulmonary subpleural, interlobar, perivascular, and peribronchial lymphatic dilatation." "" + "alveolar capillary dysplasia with misalignment of pulmonary veins" "A rare and fatal developmental lung disease characterized by respiratory distress in neonates due to refractory hypoxemia and severe pulmonary arterial hypertension." "" + "congenital pulmonary veins anomaly" "Aberrant drainage of one or more of the pulmonary veins which causes the return of oxygen-rich blood to the right atrium." "" + "pulmonary hypertension, primary, autosomal recessive" "" + "familial primary pulmonary hypoplasia" "Primary pulmonary hypoplasia is a rare, isolated, genetic developmental defect during embryogenesis characterized by congential malformation of pulmonary parenchyma with absence of other anomalies. Neonatally patients present with decreased breath sounds, small lung volume and severe respiratory distress that is not responsive to aggressive treatment (including surfactant instillation/ mechanical respiratory support). It is usually not compatible with life." "" + "pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis" "Pulmonary veno-occlusive disease and/or pulmonary capillary hemangiomatosis (PVOD and/or PCH) constitutes a rare subgroup of pulmonary arterial hypertension (PAH) characterized by obliterative fibrosis of the small pulmonary veins and venules and/or capillary infiltration of the pulmonary interstitium leading to increased pulmonary vascular resistance and right ventricular dysfunction." "" + "pulmonic stenosis" "" + "congenital pulmonary valve stenosis" "Congenital pulmonary stenosis (PS) is a congenital heart malformation that is characterized by a right ventricular outflow obstruction with a clinical presentation that may vary from critical stenosis presenting in the neonatal period to asymptomatic mild stenosis. The obstruction in PS can be at the valvular, subpulmonary, or supravalvular levels (valvular, subpulmonary, supravalvular PS)." "" + "pulmonic stenosis and congenital nephrosis" "" + "pycnodysostosis" "Pycnodysostosis is a genetic lysosomal disease characterized by short stature, increased density of the bones (osteosclerosis/osteopetrosis), and brittle bones. Other features may include underdevelopment of the tips of the fingers with absent or small nails, an abnormal collarbone (clavicle), distinctive facial features including a large head with a small face and chin, underdeveloped facial bones, a high forehead, and dental abnormalities.Pycnodysostosis is an autosomal recessive condition caused by mutations in the gene that codes the enzyme cathepsin K (CTSK) on chromosome 1q21. The diagnosis of pycnodysostosis is based on physical features and X-ray findings. Molecular genetic testing is available. Treatment should address the symptoms found in each patient and may include orthopedic monitoring, treatment of fractures, appropriate dental care, and craniofacial surgery." "" + "Pygmy" "" + "pyknoachondrogenesis" "Pyknoachondrogenesis is a lethal skeletal osteochondrodysplasia characterized by severe generalized osteosclerosis." "" + "pyloric atresia" "" + "pyridoxine-dependent epilepsy" "Pyridoxine-dependent epilepsy (PDE) is a rare neurometabolic disease characterized by recurrent intractable seizures in the prenatal, neonatal and postnatal period that are resistant to anti-epileptic drugs (AEDs) but that are responsive to pharmacological dosages of pyridoxine (vitamin B6)." "" + "inborn disorder of pyridoxine metabolism" "An acquired metabolic disease that is has its basis in the disruption of pyridoxine metabolic process." "" + "hemolytic anemia due to pyrimidine 5' nucleotidase deficiency" "Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency is a rare, hereditary, hemolytic anemia due to an erythrocyte nucleotide metabolism disorder characterized by mild to moderate hemolytic anemia associated with basophilic stippling and the accumulation of high concentrations of pyrimidine nucleotides within the erythrocyte. Patients present with variable features of jaundice, splenomegaly, hepatomegaly, gallstones, and sometimes require transfusions. Rare cases of mild development delay and learning difficulties are reported." "" + "hemolytic anemia due to an erythrocyte nucleotide metabolism disorder" "True" + "glutathione synthetase deficiency with 5-oxoprolinuria" "" + "pyropoikilocytosis, hereditary" "An autosomal recessive inherited severe hemolytic anemia. It is a subtype of hereditary elliptocytosis and is characterized by partial spectrin deficiency." "" + "pyruvate carboxylase deficiency disease" "Pyruvate carboxylase (PC) deficiency is a rare neurometabolic disorder characterized by metabolic acidosis, failure to thrive, developmental delay, and recurrent seizures at an early age in severely affected patients." "" + "pyruvate kinase deficiency of red cells" "Hemolytic anemia due to red cell pyruvate kinase (PK) deficiency is a metabolic disorder characterized by a variable degree of chronic nonspherocytic hemolytic anemia." "" + "radiculoneuropathy, fatal neonatal" "" + "radioulnar synostosis-developmental delay-hypotonia syndrome" "Radioulnar synostosis-developmental delay-hypotonia syndrome, also known as Der Kaloustian-McIntosh-Silver syndrome, is an extremely rare syndrome with synostosis described in about 4 patients to date with clinical manifestations including congenital unilateral radioulnar synostosis, generalized hypotonia, developmental delay, and dysmorphic facial features (long face, prominent nose and ears)." "" + "congenital radioulnar synostosis" "Congenital radioulnar synostosis is a rare bone disorder that may be isolated or associated with other disorders and that is characterized by failure of segmentation of the radius and ulna during embryological development, causing limited rotational movements of the forearm, which may lead to difficulties with some activities of daily living." "" + "leukocyte adhesion deficiency type II" "Leukocyte adhesion deficiency type II (LAD-II) is a form of LAD characterized by recurrent bacterial infections, severe growth delay and severe intellectual deficit." "" + "Ramon syndrome" "" + "rapadilino syndrome" "RAPADILINO syndrome is a syndrome for which the acronym indicates the principal signs: RA for radial ray defect, PA for both patellae hypoplasia or aplasia and cleft or highly arched palate, DI for diarrhea and dislocated joints, LI for little size and limb malformations, NO for long, slender nose and normal intelligence." "" + "red skin pigment anomaly of new guinea" "" + "Reese retinal dysplasia" "" + "adult Refsum disease" "A very rare, clinically variable, multisystemic metabolic disease, characterized by anosmia, early-onset retinitis pigmentosa and possible neurological manifestations, including neuropathy, and cerebellar ataxia, deafness, ichthyosis, skeletal abnormalities, and cardiac arrhythmia. It is characterized biochemically by accumulation of phytanic acid in plasma and tissues." "" + "phytanoyl-CoA hydroxylase deficiency" "Any disorder of peroxisomal alpha oxidation in which the cause of the disease is a mutation in the PHYH gene." "" + "peroxisome biogenesis disorder type 3B" "A genetic disorder characterized by abnormalities in the breakdown of phytanic acid. It results in accumulation of phytanic acid in the blood, brain and other tissues. Signs and symptoms include retinitis pigmentosa which may lead to blindness, hearing problems and deafness, hypotonia, ataxia, nystagmus, facial deformities, and mental and growth retardation." "" + "peroxisome biogenesis disorder due to PEX12 defect" "Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX12 gene." "" + "inflammatory bowel disease 1" "Any inflammatory bowel disease in which the cause of the disease is a mutation in the NOD2 gene." "" + "renal and mullerian duct hypoplasia" "" + "Senior-Loken syndrome 1" "Any Senior-Loken syndrome in which the cause of the disease is a mutation in the NPHP1 gene." "" + "Senior-Loken syndrome" "Senior-Loken syndrome (SLSN) is a very rare autosomal recessive oculo-renal disease characterized by the association of nephronophthisis (NPHP), a chronic kidney disease, with retinal dystrophy." "" + "Ulbright-Hodes syndrome" "Ulbright-Hodes syndrome is characterised by renal dysplasia, growth retardation, phocomelia or mesomelia, radiohumeral fusion, rib abnormalities, anomalies of the external genitalia and a potter-like facies. The syndrome has been described in three infants (one pair of sibs and an unrelated case), all of whom died shortly after birth from respiratory distress resulting from pulmonary hypoplasia and oligohydramnios caused by renal dysplasia. The mode of transmission appears to be autosomal recessive." "" + "short-rib thoracic dysplasia 9 with or without polydactyly" "An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the IFT140 gene on chromosome 16p13." "" + "retinal ciliopathy" "" + "Perlman syndrome" "Perlman syndrome is characterized principally by polyhydramnios, neonatal macrosomia, bilateral renal tumours (hamartomas with or without nephroblastomatosis), hypertrophy of the islets of Langerhans and facial dysmorphism." "" + "NPHP3-related Meckel-like syndrome" "" + "renal tubular acidosis 3" "" + "renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss" "" + "autosomal recessive distal renal tubular acidosis" "Autosomal recessive distal renal tubular acidosis (AR dRTA) is an inherited form of distal renal tubular acidosis (dRTA) characterized by hypokalemic hyperchloremic metabolic acidosis. Deafness often occurs either early or later on in life but may be absent or never be diagnosed." "" + "renal-genital-middle ear anomalies" "" + "renal tubular dysgenesis of genetic origin" "An instance of renal tubular dysgenesis that is caused by a modification of the individual's genome." "" + "renal tubular dysgenesis" "Renal tubular dysgenesis is a rare disorder of the fetus characterized by absent or poorly developed proximal tubules of the kidneys, persistent oligohydramnios, leading to Potter sequence (facial dysmorphism with large and flat low-set ears, lung hypoplasia arthrogryposis and limb positioning defects), and skull ossification defects. It can be acquired during fetal development due to drugs taken by the mother or certain disorders (twin-twin transfusion syndrome, TTTS) or inherited in an autosomal recessive manner." "" + "newborn respiratory distress syndrome" "Infant acute respiratory distress syndrome is a lung disorder that affects premature infants caused by developmental insufficiency of surfactant production and structural immaturity of the lungs. The symptoms usually appear shortly after birth and may include tachypnea, tachycardia, chest wall retractions (recession), expiratory grunting, nasal flaring and cyanosis during breathing efforts." "" + "primary interstitial lung disease specific to childhood due to alveolar structure disorder" "True" + "pediatric acute respiratory distress syndrome" "Acute respiratory distress syndromet that occurs in pediatric patients and includes findings of new infiltrates (unilateral or bilateral) consistent with acute parenchymal disease, edema not fully explained by fluid overload or cardiac failure, and may present as new acute lung disease in setting of chronic lung disease and/or heart disease, and perinatal lung disease is excluded." "" + "respiratory underresponsiveness to hypoxia and hypercapnia" "" + "familial hemophagocytic lymphohistiocytosis type 1" "Familial Hemophagocytic lymphohistiocytosis (FHL) is a rare primary immunodeficiency characterized by a macrophage activation syndrome with an onset usually occurring within a few months or less common several years after birth." "" + "genetic hemophagocytic lymphohistiocytosis" "Genetic hemophagocytic lymphohistiocytosis." "" + "reticulum cell sarcoma" "An antiquated term that refers to a non-Hodgkin lymphoma composed of diffuse infiltrates of large, often anaplastic lymphocytes." "" + "retinal degeneration and epilepsy" "" + "Knobloch syndrome" "Knobloch syndrome (KS) is defined by vitreoretinal and macular degeneration, and occipital encephalocele." "" + "retinal degeneration-nanophthalmos-glaucoma syndrome" "Retinal degeneration-nanophthalmos-glaucoma syndrome is characterized by progressive pigmentary retinal degeneration (with nyctalopia and visual field restriction), cystic macular degeneration and angle closure glaucoma. It has been described in seven members of one family. Patients also have hyperopia and nanophthalmos. The mode of transmission is autosomal recessive." "" + "patterned dystrophy of the retinal pigment epithelium" "" + "retinal telangiectasia and hypogammaglobulinemia" "" + "obsolete retinitis pigmentosa type 1" "" "true" + "retinitis pigmentosa inversa with deafness" "" + "retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome" "Retinitis pigmentosa - intellectual disability - deafness - hypogenitalism is an extremely rare syndromic retinitis pigmentosa characterized by pigmentary retinopathy, diabetes mellitus with hyperinsulinism, acanthosis nigricans, secondary cataracts, neurogenic deafness, short stature mild hypogonadism in males and polycystic ovaries with oligomenorrhea in females. Inheritance is thought to be autosomal recessive. It can be distinguished from Alstrom syndrome by the presence of intellectual disability and the absence of renal insufficiency. There have been no further descriptions in the literature since 1993." "" + "late-adult onset retinitis pigmentosa" "A retinitis pigmentosa that is characterized by onset of symptoms in the fifth or sixth decade of life." "" + "retinohepatoendocrinologic syndrome" "Retinohepatoendocrinologic syndrome is characterized by total colorblindness caused by progressive cone dystrophy, degenerative liver disease, and endocrine dysfunction (hypothyroidism, diabetes, repeated abortions or infertility). It has been described in six females from two sibships with a high degree of consanguinity, and in a male from another family." "" + "retinopathy, pigmentary, and intellectual disability" "" + "autosomal recessive pericentral pigmentary retinopathy" "A retinitis pigmentosa that is characterized autosomal recessive inheritance of pigmentary retinal degeneration with onset in the infancy but slower rates of progression than other forms of retinopathy." "" + "retinoschisis of fovea" "" + "obsolete enhanced S-cone syndrome" "" "true" + "Revesz syndrome" "Revesz syndrome is a rare severe phenotypic variant of dyskeratosis congenita (DC) with an onset in early childhood, characterized by features of DC (e.g. skin hyper/hypopigmentation, nail dystrophy, oral leukoplakia, high risk of bone marrow failure (BMF) and cancer, developmental delay sparse and fine hair) in conjunction with bilateral exudative retinopathy, and intracranial calcifications." "" + "obsolete Rh deficiency syndrome" "" "true" + "myoglobinuria, acute recurrent, autosomal recessive" "" + "genetic recurrent myoglobinuria" "Genetic recurrent myoglobinuria is an inborn error of metabolism characterized by abnormal urinary excretion of myoglobin due to acute destruction of skeletal muscle fibers." "" + "alveolar rhabdomyosarcoma" "A rapidly growing malignant mesenchymal neoplasm. It is characterized by the presence of round cells with myoblastic differentiation and a fibrovascular stroma resembling an alveolar growth pattern. The tumor usually presents in the extremities." "" + "obsolete rheumatic fever-related antigen" "" "true" + "rhizomelic syndrome, Urbach type" "Rhizomelic syndrome, Urbach type is a rare primary bone dysplasia characterized by upper limbs rhizomelia and other skeletal anomalies (e.g. short stature, dislocated hips, digitalization of the thumb with bifid distal phalanx), craniofacial features (e.g. microcephaly, large anterior fontanelle, fine and sparse scalp hair, depressed nasal bridge, high arched palate, micrognathia, short neck), congenital heart defects (e.g. pulmonary stenosis), delayed psychomotor development and mild flexion contractures of elbows. Radiologic evaluation may reveal flared epiphyses, platyspondyly and/or digital anomalies." "" + "Roberts syndrome" "Roberts syndrome (RBS) is characterized by pre- and postnatal growth retardation, severe symmetric limb reduction defects, craniofacial anomalies and severe intellectual deficit. SC phocomelia is a milder form of RBS." "" + "Roberts-SC phocomelia syndrome" "A rare genetic syndrome with an autosomal recessive pattern of inheritance. It is caused by a mutation in the ESCO2 gene. Clinical signs at birth include multiple limb and facial abnormalities." "" + "obsolete dysostosis of genetic origin with limb anomaly as a major feature" "True" "true" + "Richieri Costa-Pereira syndrome" "Richieri Costa-Pereira syndrome is characterized by short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies (including hypoplastic thumbs), and clubfoot. It has been described in 14 Brazilian families and in one unrelated French patient. Prominent low set ears and a highly arched palate were also observed. Transmission is autosomal recessive." "" + "autosomal recessive Robinow syndrome" "Autosomal recessive Robinow syndrome (RRS) is the less common type of Robinow syndrome (RS) characterized by short-limb dwarfism, costovertebral segmentation defects and abnormalities of the head, face and external genitalia." "" + "rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction" "" + "ectodermal dysplasia-blindness syndrome" "Ectodermal dysplasia-blindness syndrome is characterized by intellectual deficit, blindness caused by ocular malformations (microphthalmia, microcornea and sclerocornea), short stature, dysmorphic facial features (narrow nasal bridge and prominent ears), hypotrichosis, and malaligned teeth. It has been described in two siblings (brother and sister) and is likely to be transmitted as an autosomal recessive trait." "" + "Rothmund-Thomson syndrome" "Rothmund-Thomson syndrome (RTS) is a genodermatosis presenting with a characteristic facial rash (poikiloderma) associated with short stature due to pre- and postnatal growth delay, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, juvenile cataracts, skeletal abnormalities, radial ray defects, premature aging and a predisposition to certain cancers." "" + "Rowley-Rosenberg syndrome" "" + "secondary entropion" "" + "saccharopinuria" "Saccharopinuria is a disorder of lysine metabolism associated with hyperlysinaemia and lysinuria." "" + "Sandhoff disease" "Sandhoff disease is a lysosomal storage disorder from the GM2 gangliosidosis family and is characterised by central nervous system degeneration." "" + "GM2 gangliosidosis" "A group of recessively inherited diseases characterized by the intralysosomal accumulation of G(M2) GANGLIOSIDE in the neuronal cells. Subtypes include mutations of enzymes in the BETA-N-ACETYLHEXOSAMINIDASES system or G(M2) ACTIVATOR PROTEIN leading to disruption of normal degradation of GANGLIOSIDES, a subclass of ACIDIC GLYCOSPHINGOLIPIDS." "" + "microbrachycephaly-ptosis-cleft lip syndrome" "Microbrachycephaly-ptosis-cleft lip syndrome is characterised by the association of intellectual deficit, microbrachycephaly, hypotelorism, palpebral ptosis, a thin/long face, cleft lip, and anomalies of the lumbar vertebra, sacrum and pelvis. It has been described in two Brazilian sisters. Transmission appears to be autosomal recessive." "" + "sarcosinemia" "Sarcosinemia is a metabolic disorder characterized by an increased concentration of sarcosine in plasma and urine due to sarcosine dehydrogenase deficiency." "" + "glycine metabolism disease" "A disease that has its basis in the disruption of glycine metabolic process." "" + "obsolete SC phocomelia syndrome" "" "true" + "Schinzel-Giedion syndrome" "Schinzel-Giedion syndrome (SGS) is an ectodermal dysplasia syndrome chiefly characterized by a distinctive facial dysmorphism, hydronephrosis, severe developmental delay, typical skeletal malformations, and genital and cardiac anomalies." "" + "schizencephaly" "Schizencephaly is a rare congenital cerebral malformation characterized by the presence of linear clefts in one or both hemispheres of the brain, extending from the lateral ventricles to the pial surface of the cortex, and that lead to a variety of neurological symptoms such as epilepsy, motor deficits, and psychomotor retardation." "" + "cerebral malformation with epilepsy" "True" + "encephaloclastic disorder" "" + "autoimmune polyendocrinopathy type 2" "Autoimmune polyglandular syndrome of likely polygenic etiology characterized by the presence of primary adrenal insufficiency in association with autoimmune thyroiditis and/or type 1 diabetes mellitus; this condition is not associated with mucocutaneous candidiasis." "" + "schneckenbecken dysplasia" "Schneckenbecken dysplasia (or chondrodysplasia with snail-like pelvis) is a prenatally lethal spondylodysplastic dysplasia." "" + "disorder of O-xylosyl/N-acetylgalactosaminylglycan synthesis" "" + "craniometadiaphyseal dysplasia, wormian bone type" "Craniometadiaphyseal dysplasia, wormian bone type is an extremely rare craniotubular bone dysplasia syndrome described in fewer than 10 patients to date. Clinical manifestations include macrocephaly, frontal bossing, malar hypoplasia, prominent mandible and dental hypoplasia. Other skeletal anomalies include abnormal bone modeling in tubular bones, multiple wormian bones and deformities of chest, pelvis and elbows. An increased risk of fractures is noted." "" + "sclerosteosis 1" "Any sclerosteosis in which the cause of the disease is a mutation in the SOST gene." "" + "sclerosteosis" "Sclerosteosis is a very rare serious sclerosing hyperostosis syndrome characterized clinically by variable syndactyly and progressive skeletal overgrowth (particularly of the skull), resulting in distinctive facial features (mandibular overgrowth, frontal bossing, midfacial hypoplasia), cranial nerve entrapment causing facial palsy and deafness, and potentially lethal elevation of intracranial pressure." "" + "sea-blue histiocyte syndrome" "A rare, inherited or acquired syndrome characterized by the presence of histiocytes in the bone marrow which contain granules stained blue with hematoxylin-eosin stain, mild thrombocytopenia and purpura, and splenomegaly." "" + "second metatarsal-metacarpal syndrome" "" + "secretory component deficiency" "" + "congenital generalized lipodystrophy type 2" "Any congenital generalized lipodystrophy in which the cause of the disease is a mutation in the BSCL2 gene." "" + "Berardinelli-Seip congenital lipodystrophy" "Berardinelli-Seip congenital lipodystrophy (BSCL) is characterized by the association of lipoatrophy, hypertriglyceridemia, hepatomegaly and acromegaloid features. BSCL belongs to the group of extreme insulin resistance syndromes, which also includes leprechaunism, Rabson-Mendenhall syndrome, acquired generalized lipodystrophy, and types A and B insulin resistance." "" + "seizures, benign familial neonatal, autosomal recessive" "" + "senile plaque formation" "" + "combined immunodeficiency due to ZAP70 deficiency" "Combined immunodeficiency due to ZAP70 deficiency is a very rare, severe, genetic, combined immunodeficiency disorder characterized by lymphocytosis, decreased peripheral CD8+ T-cells, and presence of normal circulating CD4+ T-cells, leading to immune dysfunction." "" + "Beemer-Langer syndrome" "Short rib-polydactyly syndrome (SRPS), Beemer-Langer type is an extremely rare type of SRPS developing prenatally or immediately after birth and characterized by short and narrow thorax with horizontally oriented ribs. Other bone features include small iliac bones, short tubular bones, bowing of long bones and rarely pre- and post-axial polydactyly. Brain defects are common and some cases of cleft lip, absent internal genitalia and renal, biliary and pancreatic cysts have been reported. The course is rapidly fatal." "" + "short stature-obesity syndrome" "" + "SHORT syndrome" "SHORT syndrome is a rare inherited condition of multiple anomalies whose name stands for short stature, hyperextensibility of joints, ocular depression, Rieger anomaly and teething delay which, along with mild intrauterine growth restriction, partial lipodystrophy, delayed bone age, hernias and progeroid appearance, are manifestations of the disease." "" + "syndromic hyperopia" "A hyperopia that is part of a larger syndrome." "" + "free sialic acid storage disease, infantile form" "" + "free sialic acid storage disease" "Free sialic acid storage disease (free SASD), is a group of lysosomal storage diseases characterized by a spectrum of clinical manifestations including neurological and developmental disorders with severity ranging from the milder phenotype, Salla disease (SD), to the most severe phenotype, infantile free sialic acid storage disease (ISSD)." "" + "sialuria" "Sialuria is an extremely rare metabolic disorder described in fewer than 10 patients to date and characterized by variable signs and symptoms, mostly in infancy, including transient failure to thrive, slightly prolonged neonatal jaundice, equivocal or mild hepatomegaly, microcytic anemia, frequent upper respiratory infections, gastroenteritis, dehydration and flat and coarse facies. Learning difficulties and seizures may occur in childhood." "" + "disorder of sialic acid metabolism" "" + "situs inversus" "A congenital condition in which there is complete right-to-left reversal of the position of the major thoracic and abdominal organs (that is, they are arranged in a mirror image of the normal positioning)." "" + "Sjogren syndrome" "An autoimmune disorder in which immune cells attack and destroy the glands that produce tears and saliva. Sjögren syndrome is also associated with rheumatic disorders such as rheumatoid arthritis or systemic lupus erythematosus. The hallmark symptoms of Sjögren syndrome are dry mouth and dry eyes. In addition, Sjogren syndrome may cause skin, nose, and vaginal dryness. It also may affect other organs of the body including the kidneys, blood vessels, lungs, liver, pancreas, and brain" "" + "IgG4-related dacryoadenitis and sialadenitis" "IgG4-related dacryoadenitis and sialoadenitis (Mikulicz disease) is an IgG4-related sclerosing disease characterized by persistent, usually painless, bilateral enlargement of the lacrimal, parotid, and submandibular glands associated with elevated levels of serum immunoglobulin (Ig) G4 and with lymphocyte and IgG4-positive plasmacyte infiltration. It predominantly causes mouth and eye dryness but can also affect other organs such as the lungs, liver, and kidneys, and be accompanied by complications such as autoimmune pancreatitis (AIP), retroperitoneal fibrosis, and tubulointerstitial nephritis." "" + "Sjogren-Larsson syndrome" "A neurocutaneous disorder caused by an inborn error of lipid metabolism and characterized by congenital ichthyosis, intellectual deficit, and spasticity." "" + "Sjogren-Larsson-like ichthyosis without CNS or eye involvement" "" + "generalized peeling skin syndrome" "Generalized peeling skin syndrome (PSS) is a form of PSS presenting with a generalized distribution. It comprises two sub-types: the non-inflammatory (PSS type A) and the inflammatory (PSS type B) form. PSS type A is characterized by generalized white scaling with superficial peeling of the skin, while PSS type B is characterized by superficial patchy peeling of the entire skin with underlying erythroderma, associated with pruritus, and atopy." "" + "peeling skin syndrome" "Peeling skin syndrome (PSS) refers to a group of rare autosomal recessive forms of ichthyosis that is characterized clinically by superficial, asymptomatic, spontaneous peeling of the skin and histologically by a shedding of the outer layers of the epidermis. PSS presents with either an acral (acral PSS) or a generalized distribution (generalized PSS type A (non inflammatory) or B (inflammatory)). Some cases remain difficult to classify, suggesting that there could be additional subtypes of PSS." "" + "anosmia for butyl mercaptan" "" + "Smith-Lemli-Opitz syndrome" "Smith-Lemli-Opitz syndrome (SLOS) is characterized by multiple congenital anomalies, intellectual deficit, and behavioral problems." "" + "46,XY disorder of sex development due to a cholesterol synthesis defect" "True" + "cholesterol biosynthetic process disease" "A disease that has its basis in the disruption of cholesterol biosynthetic process." "" + "congenital secretory sodium diarrhea 3" "Any secretory diarrhea in which the cause of the disease is a mutation in the SPINT2 gene." "" + "congenital sodium diarrhea" "Congenital sodium diarrhea is characterized by severe watery diarrhea containing high concentrations of sodium, hyponatremia and metabolic acidosis." "" + "sodium-potassium-ATPase activity of red cell" "" + "growth delay due to insulin-like growth factor I resistance" "Growth delay due to IGF-I resistance is characterised by variable intrauterine and postnatal growth retardation and elevated serum IGF-I levels. Addition features include variable degrees of intellectual deficit, microcephaly and dysmorphism (broad nasal bridge and tip, smooth philtrum, thin upper and everted lower lips, short fingers, clinodactyly, wide-set nipples and pectus excavatum)." "" + "congenital heart defect-round face-developmental delay syndrome" "Heart defect B round face B congenital developmental delay is very rare syndrome described in three sibs of one Japanese family and characterized by congenital heart disease, round face with depressed nasal bridge, small mouth, short stature, and relatively dark skin and typical dermatoglyphic anomalies, and intellectual deficit." "" + "ataxia, spastic, childhood-onset, autosomal recessive, with optic atrophy and intellectual disability" "" + "Charlevoix-Saguenay spastic ataxia" "Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a neurodegenerative disorder characterised by early-onset cerebellar ataxia with spasticity, a pyramidal syndrome and peripheral neuropathy." "" + "autosomal recessive cerebellar ataxia" "Autosomal recessive cerebellar ataxias (ARCA) are a heterogeneous group of rare neurological disorders involving both the central and peripheral nervous system (and in some cases other systems and organs), and characterized by degeneration or abnormal development of the cerebellum and spinal cord and, in most cases, early onset occurring before the age of 20 years." "" + "autosomal recessive spastic ataxia" "Autosomal recessive form of spastic ataxia." "" + "spastic diplegia and intellectual disability" "" + "hereditary spastic paraplegia 17" "Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the BSCL2 gene." "" + "hereditary spastic paraplegia 15" "Autosomal recessive spastic paraplegia type 15 is a complex form of hereditary spastic paraplegia characterized by a childhood to adulthood onset of slowly progressive lower limb spasticity (resulting in gait disturbance, extensor plantar responses and decreased vibration sense) associated with mild intellectual disability, mild cerebellar ataxia, peripheral neuropathy (with distal upper limb amyotrophy) and retinal degeneration. Thin corpus callosum is a common imaging finding." "" + "obsolete paraplegia-brachydactyly-cone-shaped epiphysis syndrome" "This syndrome is characterized by slowly progressive spastic paraplegia, skeletal anomalies of the hands and feet with brachydactyly type E, cone-shaped epiphyses, abnormal metaphyseal phalangeal pattern profile, sternal anomaly (pectus carinatum or excavatum), dysarthria, and mild intellectual deficit. It has been reported in five patients, among which there were two sets of identical twins. The significance of the relationship between the twinning process and the condition is not clear. The mode of inheritance is unknown but single-gene transmission seems likely." "" "true" + "hereditary spastic paraplegia 23" "Autosomal recessive spastic paraplegia type 23 (SPG23) is a rare, complex type of hereditary spastic paraplegia that presents in childhood with progressive spastic paraplegia, associated with peripheral neuropathy, skin pigment abnormalities (i.e. vitiligo, hyperpigmentation, diffuse lentigines), premature graying of hair, and characteristic facies (i.e. thin with ''sharp'' features). The SPG23 phenotype has been mapped to a locus on chromosome 1q24-q32." "" + "hereditary spastic paraplegia 5A" "Autosomal recessive spastic paraplegia type 5A (SPG5A) is a form of hereditary spastic paraplegia characterized by either a pure phenotype of slowly progressive spastic paraplegia of the lower extremities with bladder dysfunction and pes cavus or a complex presentation with additional manifestations including cerebellar signs, nystagmus, distal or generalized muscle atrophy and cognitive impairment. Age of onset is highly variable, ranging from early childhood to adulthood. White matter hyperintensity and cerebellar and spinal cord atrophy may be noted, on brain magnetic resonance imaging, in some patients." "" + "spastic paraplegia with myoclonic epilepsy" "" + "spastic paraplegia-glaucoma-intellectual disability syndrome" "Spastic paraplegia-glaucoma-intellectual disability syndrome is characterized by progressive spastic paraplegia, glaucoma and intellectual deficit. It has been described in two families. The second described sibship was born to consanguineous parents. The mode of inheritance is autosomal recessive." "" + "spastic pseudosclerosis" "" + "spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome" "Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome is characterized by nonprogressive spastic paraplegia, retinitis pigmentosa, and intellectual deficit. It has been described in two brothers born to consanguineous parents." "" + "spermatogenic failure 4" "Any azoospermia in which the cause of the disease is a mutation in the SYCP3 gene." "" + "hereditary spherocytosis type 3" "Any hereditary spherocytosis in which the cause of the disease is a mutation in the SPTA1 gene." "" + "spinal muscular atrophy with intellectual disability" "" + "spinal muscular atrophy with microcephaly and mental subnormality" "" + "spinal muscular atrophy, type IV" "Proximal spinal muscular atrophy type 4 (SMA4) is the adult-onset form of proximal spinal muscular atrophy characterized by muscle weakness and hypotonia resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei." "" + "spinal muscular atrophy, Ryukyuan type" "" + "scapuloperoneal spinal muscular atrophy, autosomal recessive" "" + "obsolete spinal muscular atrophy, type I, with congenital bone fractures" "" "true" + "infantile onset spinocerebellar ataxia" "Infantile-onset spinocerebellar ataxia (IOSCA) is a hereditary neurological disorder with early and severe involvement of both the peripheral and central nervous systems. It has only been described in Finnish families." "" + "autosomal recessive cerebellar ataxia-blindness-deafness syndrome" "" + "autosomal recessive syndromic cerebellar ataxia" "" + "spinocerebellar ataxia-dysmorphism syndrome" "Spinocerebellar ataxia-dysmorphism is marked by characteristic facies associated with dysarthria, delayed psychomotor development, ataxia, scoliosis and foot deformities. Three cases have been described and transmission appears to be autosomal recessive." "" + "corneal-cerebellar syndrome" "A rare, genetic, neurological disorder characterized by the association of slowly progressive spinocerebellar degeneration and corneal dystrophy, manifesting with bilateral corneal opacities (which lead to severe visual impairment), mild intellectual disability, ataxia, gait disturbances, and tremor. Additional manifestations include facial dysmorphism (i.e. triangular face, ptosis, low-set, posteriorly angulated ears, and micrognathia), as well as mild upper motor neuron involvement with hypertonia, lower limb hyperreflexia and extensor plantar responses. There have been no further descriptions in the literature since 1985." "" + "spastic ataxia-corneal dystrophy syndrome" "Mousa-AlDin-AlNassar syndrome is characterised by the presence of spastic ataxia in association with bilateral congenital cataract, corneal dystrophy, and nonaxial myopia." "" + "spinocerebellar degeneration with slow eye movements" "" + "familial isolated congenital asplenia" "Familial isolated congenital asplenia is a rare, non-syndromic, potentially life-threatening visceral malformation characterized by the absence of normal spleen function, resulting in a primary immunodeficiency. Typically, the condition manifests with severe, recurrent, overwhelming infections (especially pneumococcal sepsis) in otherwise apparently healthy infants. In adults with no history of severe sepsis in infancy, thrombocytosis may be the presenting sign. Howell-Jolly bodies on blood smears and an absent spleen on abdominal ultrasound examination are highly suggestive associated findings." "" + "splenoportal vascular anomalies" "" + "spondyloepimetaphyseal dysplasia, sponastrime type" "A rare genetic disorder characterized by bone marrow failure, spinal abnormalities, saddle nose, and metaphysical striation." "" + "spondylocostal dysostosis-anal and genitourinary malformations syndrome" "Spondylocostal dysostosis-anal and genitourinary malformations syndrome is characterised by the association of spondylocostal dysostosis with anal and genitourinary malformations (anal atresia and agenesis of external and internal genitalia). To date, only four cases have been described in the literature. Autosomal recessive inheritance has been suggested." "" + "brachyolmia type 1, Hobaek type" "" + "autosomal recessive brachyolmia" "Brachyolmia, recessive type is a form of brachyolmia, a group of rare genetic skeletal disorders, characterized by short-trunked short stature with platyspondyly and scoliosis. Corneal opacities and precocious calcification of the costal cartilage are rare syndromic components. Premature pubarche may occur." "" + "obsolete spondyloenchondrodysplasia" "" "true" + "spondyloepiphyseal dysplasia tarda, autosomal recessive" "Autosomal recessive form of spondyloepiphyseal dysplasia tarda." "" + "spondyloepiphyseal dysplasia tarda, Kohn type" "Spondyloepiphyseal dysplasia tarda, Kohn type is characterized by short trunk dwarfism, progressive involvement of the spine and epiphyses and mild-to-moderate intellectual deficit." "" + "brachyolmia type 1, toledo type" "" + "spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures" "Any spondyloepimetaphyseal dysplasia with joint laxity in which the cause of the disease is a mutation in the B3GALT6 gene." "" + "spondyloepimetaphyseal dysplasia with joint laxity" "A form of skeletal dysplasia characterized by severe dwarfism, generalized articular hypermobility, and progressive spinal malalignment." "" + "spondyloepimetaphyseal dysplasia, Irapa type" "Spondyloepimetaphyseal dysplasia, Irapa type is characterized by disproportionate short-trunked short stature, pectus carinatum, short arms, short and broad hands, short metatarsals, flat and broad feet, coxa vara, genu valgum, osteoarthritis, arthrosis and moderate-to-serious gait impairment." "" + "spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome" "Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome is a rare, genetic primary bone dysplasia disorder characterized by disproportionate short stature with shortening of upper and lower limbs, short and broad fingers with short hands, narrowed chest with rib abnormalities and pectus excavatum, abnormal chondral calcifications (incl. larynx, trachea and costal cartilages) and facial dysmorphism (frontal bossing, hypertelorism, prominent eyes, short flat nose, wide nostrils, high-arched palate, long philtrum). Platyspondyly (esp. of cervical spine) and abnormal epiphyses and metaphyses are observed on radiography. Atlantoaxial instability causing spinal compression and recurrent respiratory disease are potential complications that may result lethal." "" + "spondyloperipheral dysplasia-short ulna syndrome" "An autosomal dominant condition caused by mutation(s) in the COL2A1 gene, encoding collagen alpha-1(II) chain. It is characterized by short stature, pugilistic facies, midface hypoplasia, spondyloepiphyseal dysplasia, kyphosis, short ulna, and absent styloid process. Mutation(s) in the same gene are responsible for Kniest dysplasia." "" + "Canavan disease" "A neurodegenerative disorder; its spectrum varies between severe forms with leukodystrophy, macrocephaly and severe developmental delay, and a very rare mild/juvenile form characterized by mild developmental delay." "" + "inborn aminoacylase deficiency" "An acquired metabolic disease that is has its basis in the disruption of aminoacylase activity." "" + "familial infantile bilateral striatal necrosis" "The familial form of infantile bilateral striatal necrosis (IBSN), a syndrome of bilateral symmetric spongy degeneration of the caudate nucleus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis." "" + "infantile bilateral striatal necrosis" "Several syndromes of bilateral symmetric spongy degeneration of the caudate nucleaus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis. IBSN can be familial or sporadic." "" + "subaortic stenosis, membranous" "" + "discrete fixed membranous subaortic stenosis" "" + "subaortic stenosis-short stature syndrome" "" + "succinic semialdehyde dehydrogenase deficiency" "Succinic semialdehyde dehydrogenase (SSADH) deficiency is a rare neurometabolic disorder of gamma-aminobutyric acid (GABA) metabolism with a nonspecific clinical presentation (ranging from mild to severe) with the most frequent symptoms being cognitive impairment with prominent deficit in expressive language, hypotonia, ataxia, epilepsy, and behavioral dysregulation." "" + "sucrosuria, hiatus hernia and intellectual disability" "" + "Schilder disease" "Schilder's disease is a progressive demyelinating disorder of the central nervous system." "" + "multiple sclerosis variant" "" + "obsolete sudden infant death syndrome" "Sudden infant death syndrome (SIDS) is the unexpected, sudden death of a child under age 1 which cannot be explained after a thorough investigation is conducted. Infants who are affected by the condition generally appear healthy with no suspicious signs and symptoms prior to the incident. It is the leading cause of death in infants age 1 to 12 months old. The exact underlying cause of SIDS is unknown; however, scientists suspect that it is likely a multifactorial condition (associated with the effects of multiple genes in combination with lifestyle and environmental factors). Although there is no guaranteed way to prevent SIDS, the American Academy of Pediatrics has a published list of recommendationsfor risk reduction. Please click on the link to access this resource." "" "true" + "Sugarman brachydactyly" "Sugarman brachydactyly is a rare, genetic, congenital limb malformation characterized by brachydactyly of fingers, with major proximal phalangeal shortening and immobile proximal interphalangeal joints, as well as dorsally and proximally placed, non-articulating great toes (with or without angulation). Radiographic findings of hands include bilateral double first metacarpals and biphalangeal fifth fingers. There have been no further descriptions in the literature since 1982." "" + "mucosulfatidosis" "Multiple sulfatase deficiency (MSD) is a very rare and fatal lysosomal storage disease characterized by a clinical phenotype that combines the features of different sulfatase deficiencies (whether lysosomal or not) that can have neonatal (most severe), infantile (most common) and juvenile (rare) presentations with manifestations including hypotonia, coarse facial features, mild deafness, skeletal anomalies, ichthyosis, hepatomegaly, developmental delay, progressive neurologic deterioration and hydrocephalus." "" + "isolated sulfite oxidase deficiency" "" + "encephalopathy due to sulfite oxidase deficiency" "Encephalopathy due to sulfite oxidase deficiency is a rare neurometabolic disorder characterized by seizures, progressive encephalopathy and lens dislocation." "" + "Summitt syndrome" "Summitt syndrome is an extremely rare disorder originally described in two brothers and characterized by mild to severe craniosynostosis and syndactyly, obesity, and normal intelligence. Acrocephaly, brachydactyly, clinodactyly, mild syndactyly of the hands and feet, genu valgum and marked obesity were later described in another patient. There have been no further descriptions in the literature since 1979. Summitt syndrome could be a variant of Carpenter syndrome." "" + "Cold-induced sweating syndrome 1" "Crisponi syndrome (CS) is a severe disorder characterized by muscular contractions at birth, intermittent hyperthermia, facial abnormalities and camptodactyly." "" + "cold-induced sweating syndrome" "Cold-induced sweating syndrome (CISS) is characterized by profuse sweating (involving the chest, face, arms and trunk) induced by cold ambient temperature." "" + "Filippi syndrome" "Filippi syndrome is characterised by microcephaly, cutaneous syndactyly of the fingers and toes, intellectual deficit, growth retardation and a characteristic facies (high and broad nasal bridge, thin alae nasi, micrognathia and a high frontal hairline). So far, less than 25 cases have been reported. Cryptorchidism, polydactyly, and teeth and hair anomalies may also be present. Transmission is autosomal recessive." "" + "syndesmodysplasic dwarfism" "" + "spondylocarpotarsal synostosis syndrome" "Spondylocarpotarsal synostosis (SCT) syndrome is a skeletal dysplasia clinically characterized by postnatal progressive vertebral fusions frequently manifesting as block vertebrae, contributing to an undersized trunk and a disproportionate short stature, scoliosis, lordosis, carpal and tarsal synostosis, with club feet and a mild facial dysmorphism." "" + "ataxia-tapetoretinal degeneration syndrome" "" + "tardive dyskinesia" "" + "Tatsumi factor deficiency" "" + "taurodontism" "Taurodontism is a dental anomaly characterized by an elongated pulp chamber, displaced toward the apical floor of the tooth with no constriction at the level of the cemento-enamel junction, and short roots. It most frequently affects permanent molar teeth. Taurodontism increases the risk of pulp exposure. It can be isolated or associated with certain syndromes such as Down syndrome, amelogenesis imperfecta, and Klinefelter syndrome." "" + "Tay-Sachs disease AB variant" "GM2 gangliosidosis, AB variant is an extremely rare, severe genetic disorder characterized by progressive neurological decline due to ganglioside activator deficiency." "" + "Tay-Sachs disease" "GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency." "" + "Teebi-Shaltout syndrome" "Teebi-Shaltout syndrome is a rare, genetic, development defect during embryogenesis malformation syndrome characterized by association of characteristic facial features (including abnormal head shape with narrow forehead, hypertelorism, telecanthus, small earlobes, broad nasal bridge and tip, underdeveloped ala nasi, small/wide mouth and high/cleft palate), ectodermal dysplasia (including oligodontia with delayed dentition, slow growing hair and reduced sweating) and skeletal abnormalities including camptodactyly and caudal appendage. Short stature and abnormal palmar creases are additional clinical features." "" + "taurodontia-absent teeth-sparse hair syndrome" "This syndrome is characterised by congenital absence of the teeth, and sparse or absent hair. Taurodontia is also present in the majority of cases. The syndrome has been described in less than 15 patients from different families." "" + "teeth, fused" "" + "non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome" "Noneruption of teeth - maxillary hypoplasia - genu valgum is an extremely rare syndrome that is characterized by multiple unerupted permanent teeth, hypoplasia of the alveolar process and of the maxillo-zygomatic region, severe genu valgum and deformed ears." "" + "teratoma, pineal" "" + "testes, rudimentary" "" + "obsolete testicular regression syndrome" "" "true" + "gonadal germ cell tumor" "" + "tetraamelia with ectodermal dysplasia and lacrimal duct abnormalities" "" + "tetraamelia-multiple malformations syndrome" "Tetraamelia - multiple malformations is an extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent." "" + "odontotrichomelic syndrome" "Odontotrichomelic syndrome is characterised by malformations of all four extremities, hypoplastic nails, ear anomalies, hypotrichosis, abnormal dentition, hyperhidrosis and nasolacrimal duct obstruction. So far, it has been described in less than 10 patients. Transmission is autosomal recessive." "" + "thalamic degeneration, symmetric infantile" "" + "thalidomide susceptibility" "" + "thanatophoric dysplasia, Glasgow variant" "" + "thoracic dysplasia-hydrocephalus syndrome" "" + "thoracomelic dysplasia" "" + "3M syndrome 1" "Any 3-M syndrome in which the cause of the disease is a mutation in the CUL7 gene." "" + "inherited threoninemia" "" + "obsolete Glanzmann's thrombasthenia" "" "true" + "thrombocytopenia 3" "" + "thrombocytopenia-absent radius syndrome" "Thrombocytopenia-absent radius (TAR) syndrome is a very rare congenital malformation syndrome characterized by bilateral radial aplasia and thrombocytopenia." "" + "congenital thrombotic thrombocytopenic purpura" "Congenital thrombotic thrombocytopenic purpura is the hereditary form of thrombotic thrombocytopenic purpura (TTP) characterized by profound peripheral thrombocytopenia, microangiopathic hemolytic anemia (MAHA) and single or multiple organ failure of variable severity." "" + "thrombotic thrombocytopenic purpura" "Thrombotic thrombocytopenic purpura (TTP) is an aggressive and life-threatening form of thrombotic microangiopathy (TMA) characterized by profound peripheral thrombocytopenia, microangiopathic hemolytic anemia (MAHA) and organ failure of variable severity and is comprised of congenital TTP and acquired TTP." "" + "absent thumb-short stature-immunodeficiency syndrome" "Absent thumb-short stature-immunodeficiency is an exceedingly rare, autosomal recessive immune disease characterized by thumb aplasia, short stature with skeletal abnormalities, and combined immunodeficiency described in three sibships from two possibly related families. The skeletal abnormalities included unfused olecranon and the immunodeficiency manifested with severe chickenpox and chronic candidiasis. No new cases have been reported since 1978." "" + "thumb, distal hyperextensibility of" "" + "upper limb defect-eye and ear abnormalities syndrome" "Upper limb defect - eye and ear abnormalities syndrome associates upper limb defects (hypoplastic thumb with hypoplasia of the metacarpal bone and phalanges and delayed bone maturation), developmental delay, central hearing loss, unilateral poorly developed antihelix, bilateral choroid coloboma and growth retardation." "" + "thymic aplasia with fetal death" "" + "thymoma, familial" "An instance of thymoma (disease) that is caused by an inherited modification of the individual's genome." "" + "thyrocerebrorenal syndrome" "Thyrocerebrorenal syndrome is characterized by renal, neurologic, thyroid disease, associated with thrombocytopenia. It has been described in a brother and his sister. Intelligence was normal. It is transmitted as an autosomal recessive trait." "" + "thymic-renal-anal-lung dysplasia" "This syndrome is characterised by intrauterine growth retardation, renal dysgenesis and a unilobed or absent thymus." "" + "dihydropyrimidine dehydrogenase deficiency" "Dihydropyrimidine dehydrogenase (DPD) deficiency isaconditionin which the body cannot break down the nucleotides thymine and uracil. DPD deficiency can have a wide range of severity; some individuals may have various neurological problems, while others have no signsand symptoms. Signs and symptoms in severely affected individuals begin in infancy and may include seizures, intellectual disability, microcephaly, increased muscle tone (hypertonia), delayed motor skills, and autistic behavior. All individuals with the condition, regardless of the presence or severity of symptoms, are at risk for severe, toxic reactions to drugs called fluoropyrimidines which are used to treat cancer. Individuals with no symptoms may be diagnosed only by laboratory testing or after exposure to fluoropyrimidines. DPD deficiency is caused by mutations in the DPYD gene and is inherited in an autosomal recessive manner." "" + "thyroid hormone resistance, generalized, autosomal recessive" "A rare, autosomal recessive inherited disorder usually caused by mutations in the THRB gene. It is characterized by a defective physiological resistance to thyroid hormones, resulting in the elevation of thyroxin and triiodothyronine in the serum." "" + "familial thyroid dyshormonogenesis" "A type of primary congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth, which results from inborn errors of thyroid hormone synthesis." "" + "primary congenital hypothyroidism without thyroid developmental anomaly" "Primary congenital hypothyroidism without thyroid developmental anomaly is a type of primary congenital hypothyroidism in which the thyroid gland is anatomically normal." "True" + "thyroid dyshormonogenesis 2A" "Thyroid peroxidase system defect due to presumed mutation(s) in the TPO gene, resulting in decreased activity of thyroid peroxidase." "" + "Pendred syndrome" "Pendred syndrome (PDS) is a clinically variable genetic disorder characterized by bilateral sensorineural hearing loss and euthyroid goiter." "" + "thyroid dyshormonogenesis 3" "Any familial thyroid dyshormonogenesis in which the cause of the disease is a mutation in the TG gene." "" + "thyroid dyshormonogenesis 4" "Any familial thyroid dyshormonogenesis in which the cause of the disease is a mutation in the IYD gene." "" + "thyroid dyshormonogenesis 5" "Any familial thyroid dyshormonogenesis in which the cause of the disease is a mutation in the DUOXA2 gene." "" + "isolated thyroid-stimulating hormone deficiency" "Isolated thyroid-stimulating hormone (TSH) deficiency is a type of central congenital hypothyroidism, a permanent thyroid deficiency that is present from birth, characterized by low levels of thyroid hormones due to a deficiency in TSH synthesis." "" + "central congenital hypothyroidism" "Central or secondary congenital hypothyroidism is a type of permanent congenital hypothyroidism characterized by permanent thyroid hormone deficiency that is present from birth and secondary to a disorder in the thyroid-stimulating hormone (TSH) - thyrotropin-releasing hormone (TRH) system." "" + "isolated thyrotropin-releasing hormone deficiency" "Hypothyroidism due to dysfunction of the hypothalamus, assumed to result in reduced secretion of thyrotropin- releasing hormone." "" + "tiglic acidemia" "" + "hypothyroidism due to TSH receptor mutations" "Hypothyroidism due to thyroid-stimulating hormone (TSH) receptor mutations is a type of primary congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth due to thyroid resistance to TSH." "" + "lethal restrictive dermopathy" "Restrictive dermopathy (RD) is a neonatal lethal genetic disease characterized by very tight and thin skin with erosions and scaling, associated to a typical facial dysmorphism, arthrogryposis multiplex, fetal akinesia or hypokinesia deformation sequence (FADS) and pulmonary hypoplasia without neurological abnormalities." "" + "tibial hemimelia" "Tibial hemimelia is a rare congenital anomaly characterized by deficiency of the tibia with a relatively intact fibula." "" + "hemimelia" "Hemimelia is a limb malformation characterized by the absence or gross shortening of the lower portion of one or more of the limbs. The condition is designated according to which bone of the distal arm or leg is absent or defective and includes fibular, radial, tibial, or ulnar hemimelia. Hemimelia ranges in severity." "" + "tibia, absence of, with congenital deafness" "" + "Kerion celsi" "A rare inflammatory and suppurating type of tinea capitis, a skin infection caused by Trichophyton or Microsporum fungi, that predominantly affects the scalp and that is characterized by the development of painful crusty lesions covered with follicular pustules and surrounded by erythematous alopecic areas, that can later evolve into abscesses and leave permanent cicatricial alopecia. Lesions can be associated with regional lymphadenopathy." "" + "tongue, pigmented fungiform papillae of" "" + "Mounier-Kuhn syndrome" "Mounier-Kuhn syndrome, also known as idiopathic tracheobronchomegaly, is a congenital disorder characterized by marked dilatation of the trachea and proximal bronchi that leads to impaired airway secretion clearance and recurrent lower respiratory tract infections." "" + "transcobalamin II deficiency" "Transcobalamin deficiency (TC) is a disorder of cobalamin transport that usually presents during the first few months of life and is characterized by megaloblastic anemia, failure to thrive, vomiting, weakness and pancytopenia." "" + "tricarboxylic acid cycle, defect of" "" + "trichomegaly-retina pigmentary degeneration-dwarfism syndrome" "Trichomegaly-retina pigmentary degeneration-dwarfism syndrome, also known as Oliver-McFarlane syndrome, is an extremely rare genetic disorder characterized by hair abnormalities, severe chorioretinal atrophy, hypopituitarism, short stature, and intellectual disability." "" + "trichoodontoonychial dysplasia" "Trichoodontoonychial dysplasia is a rare ectodermal dysplasia syndrome characterized by severe generalized hypotrichosis, parietal alopecia, secondary anodontia resulting from enamel hypoplasia, onychodystrophy, bone deficiency in the frontoparietal region and skin manifestations (incl. nevus pigmentosus, papules, ephelides, palmoplantar keratosis, supernumerary nipples, abnormal dermatoglyphics). There have been no further descriptions in the literature since 1983." "" + "trigonocephaly-bifid nose-acral anomalies syndrome" "Trigonocephaly-bifid nose-acral anomalies syndrome is characterized by trigonocephaly, brachycephaly, bulbous nose (bifid at the tip), micrognathia, macrostomia, hypotonia and relatively broad metatarsals and phalanges." "" + "Dorfman-Chanarin disease" "" + "neutral lipid storage disease" "Neutral lipid storage disease (NLSD) refers to a group of diseases characterized by a deficit in the degradation of cytoplasmic triglycerides and their accumulation in cytoplasmic lipid vacuoles in most tissues of the body. The group is heterogeneous: currently cases of NLSD with icthyosis (NLSDI/Dorfman-Chanarin disease) and NLSD with myopathy (NLSDM/neutral lipid storage myopathy) can be distinguished." "" + "Troyer syndrome" "Autosomal recessive spastic paraplegia type 20 (SPG20) is a type of complex hereditary spastic paraplegia characterized by an onset in infancy of progressive spastic paraparesis associated with distal amyotrophy, psuedobulbar palsy, motor and cognitive delays, mild cerebellar signs (dysarthria, dysdiadochokinesia, mild intention tremor), short stature and subtle skeletal abnormalities (pes cavus, mild talipes equinovarus, kyphoscoliosis). SPG20 is due to mutations in the SPG20 gene (13q13.1), which encodes the protein spartin." "" + "Tryptophanuria with dwarfism" "" + "T-substance anomaly" "" + "mismatch repair cancer syndrome 1" "A rare childhood cancer predisposition syndrome caused by biallelic inheritance of mutations in MLH1, MSH2, MSH6, or PMS2 genes. It is characterized by the development of childhood cancers, usually hematological malignancies and/or brain tumors, and colorectal cancers with multiple intestinal polyps. The majority of patients show signs of neurofibromatosis type 1." "" + "mismatch repair cancer syndrome" "" + "obsolete immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells" "" "true" + "tyrosinemia type II" "Tyrosinemia type 2 is an inborn error of tyrosine metabolism characterized by hypertyrosinemia with oculocutaneous manifestations and, in some cases, intellectual deficit." "" + "tyrosinemia type I" "Tyrosinemia type 1 (HTI) is an inborn error of tyrosine catabolism caused by defective activity of fumarylacetoacetate hydrolase (FAH) and is characterized by progressive liver disease, renal tubular dysfunction, porphyria-like crises and a dramatic improvement in prognosis following treatment with nitisinone." "" + "tyrosinemia type III" "Tyrosinemia type 3 is an inborn error of tyrosine metabolism characterised by mild hypertyrosinemia and increased urinary excretion of 4-hydroxyphenylpyruvate, 4-hydroxyphenyllactate and 4-hydroxyphenylacetate." "" + "Tyrosinosis" "" + "phocomelia, Schinzel type" "Schinzel phocomelia syndrome, also called limb/pelvis hypoplasia/aplasia syndrome, is characterized by skeletal malformations affecting the ulnae, pelvic bones, fibulae and femora. As the phenotype is similar to that described in the malformation syndrome known as Al-Awadi/Raas-Rothschild syndrome, they are thought to be the same disorder." "" + "ulna hypoplasia-intellectual disability syndrome" "Ulna hypoplasia - intellectual deficit is a very rare syndrome characterized by mesomelic shortness of the forearms, bilateral clubfeet, aplasia or hypoplasia of all nails and severe psychomotor retardation." "" + "ulnar agenesis and endocardial fibroelastosis" "" + "urocanic aciduria" "Encephalopathy due to urocanase deficiency is an extremely rare histidine metabolism disorder characterized by urocanic aciduria and other variable manifestations including intellectual deficit and intermittent ataxia in the 4 cases reported to date." "" + "Usher syndrome type 1" "A syndrome characterized by congenital, bilateral, severe sensorineural hearing loss, abnormalities in the vestibular system, and adolescent-onset retinitis pigmentosa." "" + "Usher syndrome" "A syndromic diseae characterized by the association of sensorineural deafness (usually congenital) with retinitis pigmentosa and progressive vision loss." "" + "Usher syndrome type 2A" "Any Usher syndrome in which the cause of the disease is a mutation in the USH2A gene." "" + "Usher syndrome type 2" "A syndrome characterized by congenital, bilateral sensorineural hearing loss that is mild to moderate in the low frequencies and severe to profound in the higher frequencies, no abnormalities in the vestibular system, and retinitis pigmentosa." "" + "Usher syndrome type 3A" "Any Usher syndrome in which the cause of the disease is a mutation in the CLRN1 gene." "" + "Usher syndrome type 3" "A syndrome characterized by postlingual progressive hearing loss, abnormalities in the vestibular system, and onset of retinitis pigmentosa symptoms usually by the second decade of life." "" + "Usher syndrome type 1C" "A form of Usher syndrome type I that is caused by homozygous or compound heterozygous mutation in the gene encoding harmonin on chromosome 11p15. It is inherited in an autosomal recessive manner." "" + "VACTERL with hydrocephalus" "VACTERL is an acronym for Vertebral anomalies, Anal atresia, Congenital cardiac disease, tracheoesophageal fistula, Renal anomalies, and Limb defects. VACTERL associated with hydrocephalus has rarely been reported and is thought to be an autosomal recessive anomaly. The condition is described as a uniformly lethal or developmentally devastating disorder distinct from the VATER association." "" + "Mayer-Rokitansky-Kuster-Hauser syndrome type 1" "Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1, a form of MRKH syndrome, is an isolated form of congenital aplasia of the uterus and 2/3 of the vagina occurring in otherwise phenotypically normal females." "" + "Mayer-Rokitansky-Kuster-Hauser syndrome" "Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome describes a spectrum of Mullerian duct anomalies characterized by congenital aplasia of the uterus and upper 2/3 of the vagina in otherwise phenotypically normal females. It can be classified as either MRKH syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations)." "" + "Valinemia" "Valinemia is a very rare metabolic disorder characterized by abnormally high levels of the amino acid valine in the blood and urine.Infants with valinemia reportedly experience lack of appetite, vomiting, and failure to thrive. In some cases, the condition may be life-threatening. Low muscle tone (hypotonia), excessive drowsiness, hyperactivity, and developmental delay have also been reported. Valinemia is caused by a deficiency of the enzymevaline transaminase, which is needed for the breakdown (metabolism) of valine in the body. It is inherited in an autosomal recessive manner, although the gene responsible for the condition is not yet known. Treatment includes adiet low in valine (introduced during early infancy) which usually improves symptoms and brings valine levels to normal." "" + "van Bogaert-Hozay syndrome" "" + "orofaciodigital syndrome type 6" "Joubert syndrome with orofaciodigital defect (or oral-facial-digital syndrome type 6, OFD6) is a very rare subtype of Joubert syndrome and related disorders (JSRD) characterized by the neurological features of JS associated with orofacial anomalies and often polydactyly." "" + "Joubert syndrome 17" "Any Joubert syndrome in which the cause of the disease is a mutation in the CPLANE1 gene." "" + "vascular hyalinosis" "A syndrome characterized by progressive hyalinosis involving capillaries and often arterioles and small veins of the digestive tract, kidneys, and idiopathic cerebral calcifications. It has been described in three sisters born to non-consanguineous parents. All three patients also had poikilodermia and greying hair, as well as severe diarrhoea, rectal bleeding, malabsorption and subarachnoid hemorrhage." "" + "congenital bilateral aplasia of vas deferens from CFTR mutation" "An autosomal recessive disorder that is associated with mutation(s) in the CFTR gene, encoding cystic fibrosis transmembrane conductance regulator. Mutation(s) in the same gene are associated with cystic fibrosis." "" + "congenital bilateral absence of vas deferens" "Congenital bilateral absence of the vas deferens (CBAVD) is a condition leading to male infertility." "" + "isolated right ventricular hypoplasia" "Isolated right ventricular hypoplasia (IRVH) is a rare congenital heart malformation characterized by underdevelopment of the right ventricle associated with patent foramen ovale or interauricular communication and normally developed tricuspid and pulmonary valves. IRVH manifests with severe cyanosis, congestive heart failure, and in severe cases, death in early infancy." "" + "autosomal recessive spondylocostal dysostosis" "Autosomal recessive spondylocostal dysostosis (ARSD) is a rare condition of variable severity associated with vertebral and rib segmentation defects and characterised by a short neck with limited mobility, winged scapulae, a short trunk, and short stature with multiple vertebral anomalies at all levels of the spine." "" + "oculogastrointestinal muscular dystrophy" "Oculogastrointestinal muscular dystrophy is an extremely rare autosomal recessively inherited neuromuscular disease characterized by ocular manifestations such as ptosis and diplopia followed by chronic diarrhea, malnutrion and intestinal peudo-obstruction." "" + "hypercarotenemia and vitamin A deficiency, autosomal recessive" "" + "methylmalonic aciduria and homocystinuria type cblF" "A form of methylmalonic acidemia with homocystinuria, an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. The disorder is caused by mutations in the LMBRD1 gene (6q13) and is transmitted in an autosomal recessive manner." "" + "methylmalonic acidemia with homocystinuria" "Methylmalonic acidemia with homocystinuria is an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. There are four complementation classes of cobalamin defects (cblC, cblD, cblF and cblJ) that are responsible for methylmalonic acidemia - homocystinuria (methylmalonic acidemia - homocystinuria cblC, cblD cblF and cblJ)." "" + "methylmalonic aciduria and homocystinuria type cblC" "A form of methylmalonic acidemia with homocystinuria, an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. cblC type methylmalonic acidemia with homocystinuria is caused by mutations in the MMACHC gene (1p36.3) and is transmitted in an autosomal recessive manner." "" + "methylmalonic aciduria and homocystinuria type cblD" "A form of methylmalonic acidemia with homocystinuria, an inborn error of vitamin B12 (cobalamin) metabolism characterized by variable biochemical, neurological and hematological manifestations." "" + "vitamin D-dependent rickets, type 2A" "Rickets caused by a defect in the VDR gene, encoding the vitamin D receptor. This form of rickets is characterized by hypocalcemia, elevated 1,25-dihydroxyvitamin D (calcitriol) concentrations and may also manifest with alopecia." "" + "vitamin D-dependent rickets, type 2" "Hypocalcemic vitamin D-resistant rickets (HVDRR) is a hereditary disorder of vitamin D action characterized by hypocalcemia, severe rickets and in many cases alopecia." "" + "vitamin K-dependent clotting factors, combined deficiency of, type 1" "Combined vitamin K-dependent clotting factors deficiency (VKCFD) is a congenital bleeding disorder resulting from variably decreased levels of coagulation factors II, VII, IX and X, as well as natural anticoagulants protein C, protein S and protein Z." "" + "familial isolated deficiency of vitamin E" "Ataxia with vitamin E deficiency (AVED) is a neurodegenerative disease belonging to the inherited cerebellar ataxias. It is mainly characterized by progressive spino-cerebellar ataxia, loss of proprioception, areflexia, and is associated with a marked deficiency in vitamin E." "" + "vitiligo, progressive, with intellectual disability and urethral duplication" "" + "pontocerebellar hypoplasia type 2A" "" + "pontocerebellar hypoplasia type 2" "Pontocerebellar hypoplasia type 2 (PCH2) is the most common subtype of pontocerebellar hypoplasia characterized by neonatal onset and a lack of voluntary motor development and later progressive microencephaly, generalized clonus, development of chorea and spasticity. The majority of patients will not reach puberty." "" + "von Willebrand disease 3" "Type 3 von Willebrand disease (type 3 VWD) is the most severe form of VWD characterized by a bleeding disorder associated with a total or near-total absence of Willebrand factor (von Willebrand factor; VWF) in the plasma and cellular compartments, also leading to a profound deficiency of plasmatic factor VIII (FVIII)." "" + "Waardenburg syndrome type 4A" "A subtype of Waardenburg syndrome type 4 (Waardenburg-Shah syndrome) caused by mutations in EDNRB." "" + "Waardenburg-Shah syndrome" "Waardenburg-Shah syndrome (WSS) is a neurocristopathy characterized by the association of Waardenburg syndrome (sensorineural hearing loss and pigmentary abnormalities) and Hirschsprung disease." "" + "Weaver syndrome" "Weaver syndrome (WVS) is a rare, multisystem disorder characterized by tall stature, a typical facial appearance (hypertelorism, retrognathia) and variable intellectual disability. Additional features may include camptodactyly, soft doughy skin, umbilical hernia, and a low hoarse cry." "" + "Weill-Marchesani syndrome 1" "Any Weill-Marchesani syndrome in which the cause of the disease is a mutation in the ADAMTS10 gene." "" + "Weill-Marchesani syndrome" "Weill-Marchesani syndrome (WMS) is a rare condition characterized by short stature, brachydactyly, joint stiffness, and characteristic eye abnormalities including microspherophakia, ectopia of the lens, severe myopia, and glaucoma." "" + "obsolete Weissenbacher-Zweymuller syndrome" "" "true" + "Werner syndrome" "Werner syndrome (WS) is a rare inherited syndrome characterized by premature aging with onset in the third decade of life and with cardinal clinical features including bilateral cataracts, short stature, graying and thinning of scalp hair, characteristic skin disorders and premature onset of additional age-related disorders." "" + "whistling face syndrome, recessive form" "" + "white forelock with malformations" "White forelock with malformations is a multiple congenital anomalies syndrome characterized by poliosis, distinct facial features (epicanthal folds, hypertelorism, posterior rotation of ears, prominent philtrum, high-arched palate) and congenital anomalies/malformations of the eye (blue sclera), cardiopulmonary (atrial septal defect, prominent thoracic and abdominal veins), and skeletal (clinodactyly, syndactyly of the fingers and 2nd and 3rd toes) systems. There have been no further descriptions in the literature since 1980." "" + "Wilson disease" "Wilson disease is a very rare inherited multisystemic disease presenting non-specific neurological, hepatic, psychiatric or osseo-muscular manifestations due to excessive copper deposition in the body." "" + "metal transport or utilization disorder with epilepsy" "True" + "Winchester syndrome" "" + "obsolete Wiskott-Aldrich syndrome" "" "true" + "intellectual disability, Wolff type" "Intellectual disability, Wolff type is a rare intellectual disability syndrome characterized by severe intellectual disability, characteristic facial features (low anterior hairline, upward slanting palpebral fissures, ocular hypertelorism, broad, bulbous nose, large ears with helix incompletely developed, thick lips, and micrognathia) and additional anomalies including peripheral joint contractures, delayed skeletal maturation, bilateral cleft lip and palate, strabismus, terminal hypoplasia of fingers, hypospadias, and bilateral inguinal hernias." "" + "lysosomal acid lipase deficiency" "Lysosomal acid lipase deficiency is a lipid storage disease that can result in 1) an early-onset severe form, Wolman disease, or 2) a less severe form, cholesteryl ester storage disease, of cholesteryl ester accumulation in the body (liver, spleen, macrophages). Wolman disease is characterized by neonatal abdominal distension, major or even massive hepatosplenomegaly and calcified adrenal glands, cholesteryl ester storage disease presents with microvesicular steatosis leading to hepatomegaly and hypercholesterolaemia with subsequent liver failure and accelerated atherosclerosis." "" + "Wolman disease" "Wolman disease represents the most severe manifestation of lysosomal acid lipase deficiency. Milder phenotypes as a whole are referred to as cholesterol ester storage disease. The acid lipase enzyme plays an essential role in lysosomal hydrolysis of both esterified cholesterol and triglycerides of lipoproteic origin. In Wolman disease, the rarest form of acid lipase deficiency, these lipids accumulate in most tissues." "" + "Wolman disease with hypolipoproteinemia and acanthocytosis" "" + "hypotrichosis 8" "Any hypotrichosis in which the cause of the disease is a mutation in the LPAR6 gene." "" + "hypotrichosis simplex" "Hypotrichosis simplex (HS) or hereditary hypotrichosis simplex (HHS) is characterized by reduced pilosity over the scalp and body (with sparse, thin, and short hair) in the absence of other anomalies." "" + "woolly hair-hypotrichosis-everted lower lip-outstanding ears syndrome" "" + "syndrome with woolly hair" "True" + "wrinkly skin syndrome" "Wrinkly skin syndrome (WSS) is characterized by wrinkling of the skin of the dorsum of the hands and feet, an increased number of palmar and plantar creases, wrinkled abdominal skin, multiple skeletal abnormalities (joint laxity and congenital hip dislocation), late closing of the anterior fontanel, microcephaly, pre- and postnatal growth retardation, developmental delay and facial dysmorphism (a broad nasal bridge, downslanting palpebral fissures and hypertelorism)." "" + "xanthinuria type I" "A rare autosomal recessive disorder of purine metabolism characterized by the isolated deficiency of xanthine dehydrogenase, causing hyperxanthinemia with low or absent uric acid and xanthinuria, leading to urolithiasis, hematuria, renal colic and urinary tract infections, while some patients are asymptomatic and others suffer from kidney failure. Less common manifestations include arthropathy, myopathy and duodenal ulcer." "" + "hereditary xanthinuria" "Hereditary xanthinuria is a purine metabolism disorder due to inherited deficiency of the xanthine dehydrogenase/oxidase enzyme and is characterized by very low (or undetectable) concentrations of uric acid in blood and urine and very high concentration of xanthine in urine, leading to urolithiasis." "" + "xeroderma pigmentosum group A" "Any xeroderma pigmentosum in which the cause of the disease is a mutation in the XPA gene." "" + "xeroderma pigmentosum group C" "An autosomal recessive inherited disorder caused by mutations in the XPC gene. This disease is characterized by increased sensitivity to sunlight with the development of carcinomas at an early age and is caused by a defect in nucleotide excision repair." "" + "xeroderma pigmentosum group D" "Any xeroderma pigmentosum in which the cause of the disease is a mutation in the ERCC2 gene." "" + "xeroderma pigmentosum-Cockayne syndrome complex" "Xeroderma pigmentosum/Cockayne syndrome complex (XP/CS complex) is characterized by the cutaneous features of xeroderma pigmentosum (XP) together with the systemic and neurological features of Cockayne syndrome (CS)." "" + "xeroderma pigmentosum group E" "An autosomal recessive genetic disorder caused by mutations in the DDB2 gene. This disease exhibits the mildest degree of sun sensitivity of all xeroderma pigmentosum complementation groups, although individuals are at high risk for skin cancer." "" + "xeroderma pigmentosum variant type" "Xeroderma pigmentosum variant is a milder subtype of xeroderma pigmentosum (XP), a rare genetic photodermatosis characterized by severe sun sensitivity and an increased risk of skin cancer." "" + "xeroderma pigmentosum group F" "Any xeroderma pigmentosum in which the cause of the disease is a mutation in the ERCC4 gene." "" + "xeroderma pigmentosum group G" "Any xeroderma pigmentosum in which the cause of the disease is a mutation in the ERCC5 gene." "" + "de Sanctis-Cacchione syndrome" "A rare autosomal recessive inherited syndrome. It is characterized by xeroderma pigmentosum, mental retardation, dwarfism, hypogonadism, and neurologic abnormalities." "" + "46,XX sex reversal 2" "" + "46,XX testicular disorder of sex development" "46,XX testicular disorder of sex development (46,XX testicular DSD) is characterized by male external genitalia, ranging from normal to ambiguous with associated testosterone deficiency." "" + "xylosidase deficiency" "" + "Young syndrome" "Young syndrome is characterised by the association of obstructive azoospermia with recurrent sinobronchial infections." "" + "CHIME syndrome" "CHIME syndrome is a rare ectodermal dysplasia syndrome characterized by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy." "" + "inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation" "" + "X-linked Opitz G/BBB syndrome" "X-linked form of Opitz G/BBB syndrome." "" + "ichthyosis, X-linked, without steroid sulfatase deficiency" "" + "recessive X-linked ichthyosis" "Recessive X-linked ichthyosis (RXLI) is a genodermatosis belonging to the Mendelian Disorders of Cornification (MeDOC) and characterized by generalized hyperkeratosis and scaling of the skin." "" + "corpus callosum agenesis-abnormal genitalia syndrome" "Corpus callosum agenesis-abnormal genitalia syndrome is a rare, genetic developmental defect during embryogenesis syndrome characterized by agenesis of the corpus callosum, mild to severe neurological manifestations (intellectual disability, developmental delay, epilepsy, dystonia), and urogenital anomalies (hypospadias, cryptorchidism, renal dysplasia, ambiguous genitalia). Additionally, skeletal anomalies (limb contractures, scoliosis), dysmorphic facial features (large eyes, prominent supraorbital ridges, synophris) and optic atrophy have been observed." "" + "ARX-related encephalopathy-brain malformation spectrum" "" + "Dent disease type 1" "Dent disease type 1 is a type of Dent disease with predominantly renal manifestations." "" + "Dent disease" "Dent disease is a rare genetic renal tubular disease characterized by manifestations of proximal tubule dysfunction." "" + "46,XY sex reversal 2" "" + "retinitis pigmentosa 3" "Any retinitis pigmentosa in which the cause of the disease is a mutation in the RPGR gene." "" + "RPGR retinopathy" "A retinopathy caused by a variant in the X-linked gene, RPGR." "" + "hearing loss, X-linked 3" "" + "X-linked nonsyndromic hearing loss" "X-linked form of nonsyndromic deafness." "" + "alopecia, congenital" "A congenital condition characterized by the absence of hair on the scalp or entire body. The lack of hair is rarely absolute and is usually accompanied by incompletely grown, lanugo-like hair. It affects males twice as much as females and a familial tendency is common." "" + "alopecia totalis" "Alopecia totalis is a form of alopecia areata, an inflammatory disease of the hair follicle, characterized by a complete loss of hair of the entire scalp which becomes glabrous." "" + "intellectual disability, X-linked 23" "" + "non-syndromic X-linked intellectual disability" "Nonspecific X-linked intellectual deficiencies (MRX) belong to the family of sex-linked intellectual deficiencies (XLMR). In contrast to syndromic or specific X-linked intellectual deficiencies (MRXS), which also present with associated physical, neurological and/or psychiatric manifestations, intellectual deficiency is the only symptom of MRX." "" + "intellectual disability, X-linked 20" "" + "intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked" "Intestinal pseudo-obstruction is a condition characterized by impairment of the muscle contractions that move food through the digestive tract. The condition may arise from abnormalities of the gastrointestinal muscles themselves (myogenic) or from problems with the nerves that control the muscle contractions (neurogenic). When intestinal pseudo-obstruction occurs by itself, it is called primary or idiopathic (unknown cause) intestinal pseudo-obstruction. The disorder can also develop as a complication of another medical condition; in these cases, it is called secondary intestinal pseudo-obstruction. Individuals with this condition have symptoms that resemble those of an intestinal blockage (obstruction) but without any obstruction. It may be acute or chronic and is characterized by the presence of dilation of the bowel on imaging. The causes may be unknown or due to alterations (mutations) in the FLNA gene, other genes or are secondary to other conditions. It may be inherited in some cases. Intestinal pseudoobstruction neuronal chronic idiopathic X-linked is caused by alterations (mutations) in the FLNA gene which is located in the X chromosome. There is no specific treatment but several medications and procedures may be used to treat the symptoms." "" + "congenital short bowel syndrome" "Congenital short bowel syndrome is a rare intestinal disorder of neonates of unknown etiology. Patients are born with a short small bowel (less than 75 cm in length) that compromises proper intestinal absorption and leads chronic diarrhea, vomiting and failure to thrive." "" + "chronic intestinal pseudoobstruction" "Chronic intestinal pseudo-obstruction (CIPO) is a rare gastrointestinal motility disorder characterized by recurring episodes resembling mechanical obstruction in the absence of organic, systemic, or metabolic disorders, and without any physical obstruction being detected by X-ray or during surgery. CIPO develops predominantly in children and may be present at birth." "" + "heterotopia, periventricular, X-linked dominant" "" + "periventricular nodular heterotopia" "Periventricular nodular heterotopia (PNH) is a brain malformation, due to abnormal neuronal migration, in which a subset of neurons fails to migrate into the developing cerebral cortex and remains as nodules that line the ventricular surface. Classical PNH is a rare X-linked dominant disorder far more frequent in females who present normal intelligence to borderline intellectual deficit, epilepsy of variable severity and extra-central nervous system signs, especially cardiovascular defects or coagulopathy. The disorder is generally associated with prenatal lethality in males." "" + "obsolete body length, mouse, human homolog" "" "true" + "X-linked intellectual disability-psychosis-macroorchidism syndrome" "" + "intellectual disability, X-linked 14" "" + "X-linked intellectual disability-plagiocephaly syndrome" "X-linked intellectual disability-plagiocephaly syndrome is characterised by severe intellectual deficit, brachycephaly, plagiocephaly, prominent forehead and coarse facial features. It has been described in two males from one family. Two females belonging to the same family displayed moderate intellectual deficit but no craniofacial dysmorphism." "" + "hearing loss, X-linked 4" "Any X-linked nonsyndromic deafness in which the cause of the disease is a mutation in the SMPX gene." "" + "lissencephaly type 1 due to doublecortin gene mutation" "Type 1 lissencephaly due to doublecortin (DCX) gene mutations is a semi-dominant X-linked disease characterised by intellectual deficiency and seizures that are more severe in male patients." "" + "subcortical band heterotopia" "A developmental brain abnormality characterized by atypical migration of neurons during cortical development." "" + "obsolete androgen insensitivity syndrome" "" "true" + "congenital stationary night blindness 2A" "Any congenital stationary night blindness in which the cause of the disease is a mutation in the CACNA1F gene." "" + "X-linked congenital stationary night blindness" "X-linked congenital stationary night blindness (XLCSNB) is a disorder of the retina. People with this condition typically experience night blindness and other vision problems, including loss of sharpness (reduced visual acuity), severe nearsightedness (myopia), nystagmus,and strabismus. Color vision is typically not affected. These vision problems are usually evident at birth, but tend to be stable (stationary) over time. There aretwo major types of XLCSNB: the complete form and the incomplete form. Bothtypes have very similar signs and symptoms. However, everyone with the complete form has night blindness, while not all people with the incomplete form have night blindness. The types are distinguished by their genetic cause." "" + "fetal akinesia syndrome, X-linked" "" + "X-linked immunoneurologic disorder" "X-linked immunoneurologic disorder is characterized by immune deficiency and neurological disorders in females, and by neonatal death in males." "" + "CGF1" "" + "X-linked cone-rod dystrophy 2" "" + "X-linked cone-rod dystrophy" "X-linked form of cone-rod dystrophy." "" + "developmental and epileptic encephalopathy, 9" "Female restricted epilepsy with intellectual disability is a rare X-linked epilepsy syndrome characterized by febrile or afebrile seizures (mainly tonic-clonic, but also absence, myoclonic, and atonic) starting in the first years of life and, in most cases, developmental delay and intellectual disability of variable severity. Behavioral disturbances (e.g. autistic features, hyperactivity, and aggressiveness) are also frequently associated. This disease affects exclusively females, with male carriers being unaffected, despite an X-linked inheritance." "" + "developmental and epileptic encephalopathy" "A complex neurodevelopmental disorder characterized by a range of developmental delays and epileptic encephalopathy phenotypes. Seizure onset is variable and intellectual disability is variable in presence and severity." "" + "X-linked intellectual disability-epilepsy syndrome" "" + "X-linked complex neurodevelopmental disorder" "A complex neurodevelopmental disorder that is transmitted via X-linked inheritance, and is characterized by intellectual disability, autism and epilepsy." "" + "X-linked cerebral adrenoleukodystrophy" "A peroxisomal disease characterized by severe inflammatory demyelination in the brain, and often associated with adrenal insufficiency." "" + "syndromic neurometabolic disease with X-linked intellectual disability" "True" + "adrenoleukodystrophy" "A peroxisomal disorder resulting in cerebral demyelination, axonal dysfunction in the spinal cord leading to spastic paraplegia, adrenal insufficiency and in some cases testicular insufficiency." "" + "X-linked spondyloepimetaphyseal dysplasia" "X-linked form of spondyloepimetaphyseal dysplasia." "" + "obsolete X-linked B cell surface antigen, mouse, homolog-like 1" "" "true" + "intellectual disability, X-linked 49" "" + "intellectual disability, X-linked 50" "" + "intellectual disability, X-linked, with panhypopituitarism" "" + "X-linked intellectual disability with hypopituitarism" "An X-linked intellectual disability in which the cause of the disease is a mutation in the SOX3 gene, with variable phenotypes including growth hormone deficiency due to hypopituitarism. It is undetermined if SOX3 is the only gene associated with this disease." "" + "migraine, familial typical, susceptibility to, 2" "" + "obsolete hematopoietic stem cell kinetics, control of" "" "true" + "diabetes mellitus, insulin-dependent, X-linked, susceptibility to" "" + "intellectual disability, X-linked 21" "Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the IL1RAPL1 gene." "" + "prostate cancer, hereditary, X-linked 1" "" + "familial prostate carcinoma" "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." "" + "MEHMO syndrome" "MEHMO syndrome is characterised by severe intellectual deficit, epilepsy, microcephaly, hypogenitalism, and obesity. Growth delay and diabetes are also present. To date, it has been described in seven boys, all of whom died within the first two years of life. The causative gene has been localised to the 21.1-22.13p region of the X chromosome and the syndrome appears to result from mitochondrial dysfunction." "" + "retinitis pigmentosa 24" "A retinitis pigmentosa that has material basis in variation in the chromosome region Xq26-q27." "" + "arthrogryposis, congenital, lower limb, X-linked" "" + "microphthalmia, syndromic 2" "" + "microphthalmia, Lenz type" "Lenz microphthalmia syndrome is a very rare X-linked inherited form of syndromic microphthalmia characterized by unilateral or bilateral microphthalmia (and/or clinical anophthalmia) with or without coloboma in addition to a range of extraocular manifestations such as microcephaly, malformed ears, dental abnormalities (i.e. irregular shape of incisors), skeletal anomalies (duplicated thumbs, syndactyly, clinodactyly, camptodactyly), urogenital anomalies (hypospadias, cryptorchidism, renal dysgenesis, hydroureter) and mild to severe intellectual disability. It is allelic to two disorders: oculofaciocardiodental syndrome and premature aging appearance-developmental delay-cardiac arrhythmia syndrome." "" + "hypotonia, congenital nystagmus, ataxia, and abnormal auditory brainstem responses" "" + "Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome" "" + "partial deletion of the long arm of chromosome X" "" + "Simpson-Golabi-Behmel syndrome type 2" "Simpson-Golabi-Behmel syndrome (SGBS) type 2 is an extremely rare and severe, early-lethal form of SGBS, an overgrowth-multiple anomalies syndrome, characterized by hydrops fetalis, macrocephaly, facial dysmorphism (hypertelorism, low-set, posteriorly angulated ears, short and broad nose with anteverted nares, prominent philtrum, large mouth with thin upper vermilion border, high-arched and cleft palate), short neck, redundant skin, skeletal defects (involving upper and lower limbs), hypoplastic nails, gastrointestinal and genitourinary anomalies, hypotonia and neurologic impairment. Severe intellectual disability, obesity and infections (pneumonia, sepsis) have been reported." "" + "Simpson-Golabi-Behmel syndrome" "Simpson-Golabi-Behmel syndrome is a rare X-linked multiple congenital anomalies syndrome, characterized by pre- and postnatal overgrowth, distinctive craniofacial features, variable congenital malformations, organomegaly and an increased tumor risk." "" + "intellectual disability, X-linked 58" "Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the TSPAN7 gene." "" + "episodic muscle weakness, X-linked" "" + "X-linked lissencephaly with abnormal genitalia" "X-linked lissencephaly with abnormal genitalia (XLAG) is a severe neurological disorder that only manifests in genotypic males and includes lissencephaly with posterior-to-anterior gradient and only moderate increase in thickness of the cortex, absent corpus callosum, neonatal-onset severe epilepsy, hypothalamic dysfunction including defective temperature regulation, and ambiguous genitalia with micropenis and cryptorchidism. XLAG differs considerably from classical lissencephaly, as the resulting cortical thickness is only 6-7 mm in XLAG, rather than 15-20 mm seen in classical lissencephaly due to mutations of the PAFAH1B1 or DCX genes. In 2002, mutations in the X-linked aristaless-related homeobox gene (ARX ; Xp21.3) were identified in individuals with XLAG and in some of their female relatives. Mouse Arx and human ARX are highly expressed in both dorsal and ventral telencephalon, including the neocortical ventricular zone and germinal zone of the ganglionic eminence, with less intense signals in the subventricular zone, cortical plate, hippocampus, basal ganglia and ventral thalamus. Arx-deficient mice showed deficient tangential migration and abnormal differentiation of GABAergic interneurons in the ganglionic eminence and neocortex, as well as abnormal testicular differentiation. These characteristics include some of the clinical features of XLAG in humans. The ARX mutations in XLAG patients were predominantly premature termination mutations (large deletions, frameshift, nonsense mutations, splice site mutations) while the missense mutations were less common and located essentially in the homeobox domain. Patients carrying nonconservative missense mutations within the homeobox, showed less severe XLAG, while conservative substitution in the homeodomain caused Proud syndrome (ACC with abnormal genitalia). A non conservative missense mutation near the C-terminal aristaless domain caused unusually severe XLAG with microcephaly and mild cerebellar hypoplasia. The ARX mutations are also associated with a spectrum of milder phenotypes, without macroscopic malformations of the brain, such as X-linked infantile spasms, a syndrome featuring mental retardation associated with distal dystonic movements (Partington syndrome), autistic features and nonsyndromicintellectual deficit." "" + "Coats disease" "Coats disease (CD) is an idiopathic disorder characterized by retinal telangiectasia with deposition of intraretinal or subretinal exudates, potentially leading to retinal detachment and unilateral blindness. CD is classically an isolated and unilateral condition affecting otherwise healthy young children." "" + "secondary dysgenetic glaucoma" "A hereditary disease that is associated with congenital ocular anomalies such as conditions associated with mesodermal dysgenesis of the neural crest, phakomatoses characterized by hamartomas, metabolic disorders, mitotic disorders, and other congenital disorders and associated with acquired conditions such as tumors, uveitis, and trauma." "" + "syndromic X-linked intellectual disability 7" "Syndromic X-linked intellectual disability 7, also called MRXS7, is characterized by X-linked intellectual deficit, obesity, hypogonadism, and tapering fingers." "" + "X-linked myotubular myopathy-abnormal genitalia syndrome" "X-linked myotubular myopathy-abnormal genitalia syndrome is a rare chromosomal anomaly, partial deletion of the long arm of chromosome X, characterized by a combination of clinical manifestations of X-linked myotubular myopathy and a 46,XY disorder of sex development. Patients present with severe form of congenital myopathy and abnormal male genitalia." "" + "X-linked centronuclear myopathy" "X-linked myotubular myopathy (XLMTM) is an inherited neuromuscular disorder defined by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy." "" + "obsolete syndromic X-linked intellectual disability type 10" "" "true" + "lymphoma, Hodgkin, X-linked pseudoautosomal" "" + "testicular germ cell tumor 1" "" + "spondyloepimetaphyseal dysplasia, Bieganski type" "Spondyloepimetaphyseal dysplasia, Bieganski type is a rare primary bone dysplasia disorder characterized by infantile-onset, progressive, multiple skeletal deformities in association with slowly progressive central and peripheral neurodegeneration. Patients present short stature, coarse facies, psychomotor regression and cognitive impairment. Imaging shows abnormally-shaped vertebral bodies, small, flat epiphyses, and widened metaphyses, as well as cerebral and cerebellar atrophy and progressive axonal-hypomyelinating neuropathy." "" + "radioulnar synostosis, radial ray abnormalities, and severe malformations in the male" "" + "syndromic X-linked intellectual disability Shashi type" "X-linked intellectual disability, Shashi type is characterised by moderate intellectual deficit, obesity, macroorchidism and a characteristic facies (large ears, a prominent lower lip and puffy eyelids). It has been described in nine boys from two families. Transmission is X-linked and the causative gene has been localised to the q21.3-q27 region of the X chromosome." "" + "Christianson syndrome" "Christianson syndrome is a very rare form of syndromic intellectual deficit characterized by microcephaly, severe developmental delay or regression, hypotonia, abnormal movements, and early-onset seizures." "" + "terminal osseous dysplasia-pigmentary defects syndrome" "Terminal osseous dysplasia-pigmentary defects syndrome is characterised by malformation of the hands and feet, pigmentary skin lesions on the face and scalp and digital fibromatosis." "" + "ptosis, hereditary congenital 2" "" + "Danon disease" "Glycogen storage disease due to LAMP-2 (Lysosomal-Associated Membrane Protein 2) deficiency is a lysosomal glycogen storage disease characterised by severe cardiomyopathy and variable degrees of muscle weakness, frequently associated with intellectual deficit." "" + "mycobacterium tuberculosis, susceptibility to, X-linked" "" + "syndromic X-linked intellectual disability Lubs type" "Distal Xq duplications refer to chromosomal disorders resulting from involvement of the long arm of the X chromosome (Xq). Clinical manifestations vary widely depending on the gender of the patient and on the gene content of the duplicated segment. The prevalence of Xq duplications remains unknown." "" + "partial duplication of the long arm of chromosome X" "Chromosome Xq duplication is a chromosome abnormality that affects many different parts of the body. People with this condition have an extra copy of the genetic material located on the long arm (q) of the X chromosome in each cell. The severity of the condition and the associated signs and symptoms vary based on the size and location of theduplication;the genes involved; and the sex of the affected person. In general, males are typically more severely affected than females and often experience intellectual disability, developmental delay, short stature, abnormalities of the reproductive organs, anddistinctive craniofacial features. Many females with this duplication do not have any symptoms or are only affected with short stature; however, some may be just as severely affected as males with the condition. Most cases are inherited in an X-linked manner, often from a mother with no signs or symptoms of the condition. Treatment is based on the signs and symptoms present in each person." "" + "Armfield syndrome" "X-linked intellectual disability, Armfield type is characterised by intellectual deficiency, short stature, seizures, and small hands and feet. It has been described in six males from three generations of one family. Three of them also had cataracts/glaucoma and two of them had cleft palate. The locus has been mapped to the terminal 8 Mb of Xq28." "" + "syndromic X-linked intellectual disability Abidi type" "X-linked intellectual disability, Abidi type is characterized by X-linked intellectual deficit and mild variable manifestations, including short stature, small head circumference, sloping forehead, hearing loss, abnormally shaped ears, and small testes. It has been described in eight affected males from three generations." "" + "syndromic X-linked intellectual disability Siderius type" "" + "hereditary spastic paraplegia 16" "A hereditary spastic paraplegia that has material basis in variation in the chromosome region Xq11.2." "" + "pure or complex X-linked spastic paraplegia" "" + "adrenomyodystrophy" "Adrenomyodystrophy is an extremely rare genetic endocrine disease characterized by primary adrenal insufficiency, dystrophic myopathy, hepatic steatosis, severe psychomotor delay, megalocornea, failure to thrive, chronic constipation, and terminal bladder ectasia which can lead to death. There have been no further descriptions in the literature since 1982." "" + "intellectual disability, X-linked 72" "" + "goiter, multinodular 2" "" + "obsolete androgen insensitivity syndrome due to coactivator deficiency" "" "true" + "Uruguay Faciocardiomusculoskeletal syndrome" "" + "ectodermal dysplasia and immune deficiency" "" + "hypohidrotic ectodermal dysplasia" "A genetic disorder of ectoderm development characterized by malformation of ectodermal structures such as skin, hair, teeth and sweat glands. It comprises three clinically almost indistinguishable subtypes with impaired sweating as the key symptom: Christ-Siemens-Touraine (CST) syndrome (X-linked), autosomal recessive (AR), and autosomal dominant (AD) HED, as well as a fourth rare subtype with immunodeficiency as the key symptom (HED with immunodeficiency)." "" + "X-linked severe congenital neutropenia" "This syndrome is an immunodeficiency syndrome characterized by recurrent major bacterial infections, severe congenital neutropenia, and monocytopenia. It has been described in five males spanning three generations of one family. It is transmitted as an X-linked recessive trait and is caused by mutations in the WAS gene, encoding the WASP protein." "" + "anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome" "This syndrome is characterized by severe immunodeficiency, osteopetrosis, lymphedema and anhidrotic ectodermal dysplasia." "" + "immunodeficiency 61" "" + "FG syndrome 2" "Any FG syndrome in which the cause of the disease is a mutation in the FLNA gene." "" + "Lesch-Nyhan syndrome" "Lesch-Nyhan syndrome (LNS) is the most severe form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency, a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO), neurological troubles, and behavioral problems." "" + "hypoxanthine-guanine phosphoribosyltransferase deficiency" "Hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency is a hereditary disorder of purine metabolism associated with uric acid overproduction and a continuum spectrum of neurological manifestations depending on the degree of the enzyme deficiency." "" + "hypoxanthine guanine phosphoribosyltransferase partial deficiency" "Kelley-Seegmiller syndrome (KSS) is the mildest form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency, a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO) leading to urolithiasis, and early-onset gout." "" + "intellectual disability, X-linked 53" "" + "obsolete thrombocythemia, X-linked" "" "true" + "Ito hypomelanosis" "Hypomelanosis of Ito (HI) is a multisystemic neurocutaneous condition with hypopigmented skin lesions along the Blaschko lines." "" + "obsolete colobomatous microphthalmia" "" "true" + "Graves disease, susceptibility to, X-linked 1" "" + "creatine transporter deficiency" "X-linked creatine transporter deficiency (CRTR-D) is a creatine deficiency syndrome characterized clinically by global developmental delay/ intellectual disability (DD/ID) with prominent speech/language delay, autistic behavior and seizures." "" + "X-linked intellectual disability, Cabezas type" "X-linked intellectual disability, Cabezas type is characterised by intellectual deficit, muscle wasting, short stature, a prominent lower lip, small testes, kyphosis and joint hyperextensibility. An abnormal gait, tremor, decreased fine motor coordination and impaired speech are also present. The syndrome has been described in six boys from three generations of the same family. Transmission is X-linked and the causative gene has been localised to the q24-q25 region of the X chromosome." "" + "intellectual disability, X-linked 73" "" + "thrombocytopenia, X-linked, with or without dyserythropoietic anemia" "An X-linked condition caused by mutation(s) in the GATA1 gene, encoding erythroid transcription factor. It is characterized by thrombocytopenia, as well as abnormal platelet function and morphology. Dyserythropoietic anemia of variable severity may also be present." "" + "intellectual disability, X-linked 42" "" + "osteopathia striata with cranial sclerosis" "Osteopathia striata with cranial sclerosis (OS-CS) is a bone dysplasia characterized by longitudinal striations of the metaphyses of the long bones, sclerosis of the craniofacial bones, macrocephaly, cleft palate and hearing loss." "" + "dilated cardiomyopathy 3B" "Any dilated cardiomyopathy in which the cause of the disease is a mutation in the DMD gene." "" + "Duchenne and Becker muscular dystrophy" "Duchenne and Becker muscular dystrophies (DMD and BMD) are neuromuscular diseases characterized by progressive muscle wasting and weakness due to degeneration of skeletal, smooth and cardiac muscle." "" + "radial ray deficiency, X-linked" "" + "intellectual disability, X-linked 63" "Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the ACSL4 gene." "" + "polymicrogyria, bilateral perisylvian, X-linked" "" + "bilateral perisylvian polymicrogyria" "" + "T-B+ severe combined immunodeficiency due to gamma chain deficiency" "Severe combined immunodeficiency (SCID) due to gamma chain deficiency, also called SCID-X1, is a form of SCID characterized by severe and recurrent infections, associated with diarrhea and failure to thrive." "" + "T-B+ severe combined immunodeficiency" "T-B+ severe combined immunodeficiency (SCID) is a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes with presence of B lymphocytes, resulting in early-onset severe respiratory viral, bacterial or fungal infections, diarrhea and failure to thrive." "" + "FG syndrome 3" "" + "intellectual disability, X-linked, with or without seizures, arx-related" "" + "FG syndrome 4" "Any FG syndrome in which the cause of the disease is a mutation in the CASK gene." "" + "syndromic X-linked intellectual disability Hedera type" "X-linked intellectual disability, Hedera type is a rare X-linked intellectual disability syndrome characterized by an onset in infancy of delayed motor and speech milestones, generalized tonic-clonic seizures and drop attacks, and mild to moderate intellectual disability. Additional, less common manifestations include scoliosis, ataxia (resulting in progressive gait disturbance), and bilateral pes planovalgus. Physical appearance is normal with no dysmorphic features reported." "" + "ATP6AP2-related disorder" "Variants in the gene ATP6AP2 have been associated with a multitude of diseases, including X-linked syndromic ID Hedera type, X-linked parkinsonism-spasticity syndrome, and congenital disorder of glycosylation type 2R. Phenotypes include global developmental delay, intellectual disability, progressive neurologic decline, spasticity, seizures, infantile onset of liver failure, recurrent infections, dysmorphic features, and features of parkinsonism (rigidity, resting tremor, bradykinesia). These phenotypes do not appear in all individuals with one of the above disease assertions, but many are overlapping phenotypes." "" + "retinitis pigmentosa 23" "Any retinitis pigmentosa in which the cause of the disease is a mutation in the OFD1 gene." "" + "autism, susceptibility to, X-linked 1" "" + "autism, susceptiblity to" "" + "intellectual disability, X-linked 2" "" + "Atkin-Flaitz syndrome" "Atkin-Flaitz syndrome is characterised by moderate to severe intellectual deficit, short stature, macrocephaly, and characteristic facies. It has been described in 11 males and three females from three successive generations of the same family. The males also presented with postpubertal macroorchidism. Transmission is X-linked." "" + "intellectual disability, X-linked 81" "" + "X-linked intellectual disability, Stocco dos Santos type" "" + "intellectual disability, X-linked 46" "Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the ARHGEF6 gene." "" + "HSD10 mitochondrial disease" "HSD10 disease is a rare, life-threatening neurometabolic disease characterized by a progressive neurodegenerative course, epilepsy, retinopathy and progressive cardiomyopathy." "" + "alpha-thalassemia-myelodysplastic syndrome" "Alpha-thalassemia-myelodysplastic syndrome (ATMDS) is an acquired form of alpha-thalassemia characterized by a myelodysplastic syndrome (MDS) or more rarely a myeloproliferative disease (MPD) associated with hemoglobin H disease (HbH)." "" + "intellectual disability, X-linked 77" "" + "primary ciliary dyskinesia-retinitis pigmentosa syndrome" "Primary ciliary dyskinesia - retinitis pigmentosa is an X-linked ciliary dysfunction of both respiratory epithelium and photoreceptors of the retina leading to ocular disorders (mild night blindness, constriction of the visual field, and scotopic and photopic ERG responses reduced to 30-60%) associated with primary ciliary dyskinesia manifestations (chronic bronchorrhea with bronchoectasis and chronic sinusitis) and sensorineural hearing loss." "True" + "coronary heart disease, susceptibility to, 3" "" + "X-linked intellectual disability-cubitus valgus-dysmorphism syndrome" "An X-linked syndromic intellectual disability characterised by moderate intellectual deficit, marked cubitus valgus, mild microcephaly, a short philtrum, deep-set eyes, downslanting palpebral fissures and multiple nevi. Less than ten individuals have been described so far. Transmission is thought to be X-linked recessive." "" + "corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome" "Agenesis of the corpus callosum - intellectual deficit - coloboma - micrognathia syndrome is a developmental anomalies syndrome characterized by coloboma of the iris and optic nerve, facial dysmorphism (high forehead, microretrognathia, low-set ears), intellectual deficit, agenesis of the corpus callosum (ACC), sensorineural hearing loss, skeletal anomalies and short stature." "" + "severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome" "Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome is a rare genetic neurological disorder characterized by intrauterine growth retardation, failure to thrive, infantile onset of sensorineural deafness, severe global developmental delay or absent psychomotor development, paraplegia or quadriplegia with dystonia and pyramidal signs, microcephaly, ocular abnormalities (strabismus, optic atrophy), mildly dysmorphic features (deep-set eyes, prominent nasal bridge, micrognathia), seizures and abnormalities of brain morphology (hypomyelinating white matter changes, cerebral atrophy)." "" + "X-linked cone-rod dystrophy 3" "" + "orofaciodigital syndrome VIII" "Oral-facial-digital syndrome, type 8 is characterized by tongue lobulation, hypoplasia of the epiglottis, median cleft upper lip, broad or bifid nasal tip, hypertelorism or telecanthus, bilateral preaxial and postaxial polydactyly, abnormal tibiae and/or radii, duplication of the halluces, short stature, and mild intellectual deficit." "" + "X-linked intellectual disability-cerebellar hypoplasia syndrome" "X-linked intellectual deficit-cerebellar hypoplasia, also known as OPHN1 syndrome, is a rare syndromic form of cerebellar dysgenesis characterized by moderate to severe intellectual deficit and cerebellar abnormalities." "" + "X-linked distal spinal muscular atrophy type 3" "X-linked distal spinal muscular atrophy type 3 is a rare distal hereditary motor neuropathy characterized by slowly progressive atrophy and weakness of distal muscles of hands and feet with normal deep tendon reflexes or absent ankle reflexes and minimal or no sensory loss, sometimes mild proximal weakness in the legs and feet and hand deformities in males." "" + "X-linked distal hereditary motor neuropathy" "X-linked form of distal hereditary motor neuropathy." "" + "X-linked epilepsy-learning disabilities-behavior disorders syndrome" "X-linked epilepsy-learning disabilities-behavior disorders syndrome is characterized by epilepsy, learning difficulties, macrocephaly, and aggressive behaviour. It has been described in males from a four-generation kindred. It is transmitted as an X-linked recessive trait and is likely to be caused by mutations in the gene encoding synapsin I (Xp11.3-q12)." "" + "Asperger syndrome, X-linked, susceptibility to, 1" "" + "autism, susceptibility to, X-linked 2" "A class of genetic disorders resulting in intellectual disability that is associated either with mutations of genes located on the X chromosome or aberrations in the structure of the X chromosome (sex chromosome aberrations)." "" + "autism, susceptibility to, X-linked 3" "" + "Asperger syndrome, X-linked, susceptibility to, 2" "" + "intellectual disability, X-linked 45" "Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the ZNF81 gene." "" + "obsolete ocular albinism" "" "true" + "obsolete MRX52" "" "true" + "intellectual disability, X-linked 84" "" + "dyslexia, susceptibility to, 9" "" + "ovarian dysgenesis 2" "Any primary ovarian failure in which the cause of the disease is a mutation in the BMP15 gene." "" + "premature ovarian failure 2A" "Any primary ovarian failure in which the cause of the disease is a mutation in the DIAPH2 gene." "" + "Fanconi anemia complementation group B" "Fanconi anemia caused by mutations of the FANCB gene. This gene encodes the protein for complementation group B." "" + "intellectual disability, X-linked 82" "" + "deafness-intellectual disability, Martin-Probst type syndrome" "Deafness-intellectual disability syndrome, Martin-Probst type is characterised by severe bilateral deafness, intellectual deficit, umbilical hernia and abnormal dermatoglyphics. It has been described in three males from three generations of one family. Mild facial dysmorphism (telangiectasias, hypertelorism, dental anomalies and a wide nasal root) was also present. Short stature, pancytopaenia, microcephaly, and renal and genitourinary anomalies were present in some of the patients. The mode of transmission is X-linked recessive and the causative gene has been localised to the q1-21 region of the X chromosome." "" + "Allan-Herndon-Dudley syndrome" "Allan-Herndon-Dudley syndrome (AHDS) is an X-linked intellectual disability syndrome with neuromuscular involvement characterized by infantile hypotonia, muscular hypoplasia, spastic paraparesis with dystonic/athetoic movements, and severe cognitive deficiency." "" + "complex hereditary spastic paraplegia" "A hereditary spastic paraplegia that is part of a larger syndrome." "" + "peripheral hypothyroidism" "Peripheral hypothyroidism is a type of permanent congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth, that results from peripheral defects in thyroid hormone metabolism." "" + "syndromic X-linked intellectual disability Claes-Jensen type" "" + "nephrogenic syndrome of inappropriate antidiuresis" "Nephrogenic syndrome of inappropriate antidiuresis (NSIAD) is a rare genetic disorder of water balance, closely resembling the far more frequent syndrome of inappropriate antidiuretic secretion (SIAD), and characterized by euvolemic hypotonic hyponatremia due to impaired free water excretion and undetectable or low plasma arginine vasopressin (AVP) levels." "" + "obsolete MRX78" "" "true" + "hypophosphatemic rickets, X-linked recessive" "Any X-linked hypophosphatemic rickets in which the cause of the disease is a mutation in the CLCN5 gene." "" + "X-linked hypophosphatemic rickets" "" + "Dent disease type 2" "Dent disease type 2 is a type of Dent disease in which patients have the manifestations of Dent disease type 1 associated with extra-renal features." "" + "parkinson disease 12" "" + "intellectual disability, X-linked 30" "Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the PAK3 gene." "" + "glycogen storage disease IXd" "A benign form of phosphorylase kinase deficiency caused by variants in PHKA1, characterized by exercise intolerance, myalgia, muscle cramps, myoglobinuria, and progressive muscle weakness." "" + "intellectual disability, X-linked 91" "Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the ZDHHC15 gene." "" + "X-linked intellectual disability-retinitis pigmentosa syndrome" "X-linked intellectual disability-retinitis pigmentosa syndrome is characterized by moderate intellectual deficit and severe, early-onset retinitis pigmentosa. It has been described in five males spanning three generations of one family. Some patients also had microcephaly. It is transmitted as an X-linked recessive trait." "" + "partial monosomy of the short arm of chromosome X" "" + "myopathy, congenital, with fiber-type disproportion, X-linked" "" + "FG syndrome 5" "" + "SHOX-related short stature" "SHOX-related short stature is a primary bone dysplasia characterized by a height that is 2 standard deviations below the corresponding mean height for a given age, sex and population group, in the absence of obvious skeletal abnormalities and other diseases and with normal developmental milestones. Patients present normal bone age with normal limbs, shortening of the extremities (significantly lower extremities-trunk and sitting height-to-height ratios), normal hGH values, normal karyotype, and Leri-Weill dyschondrosteosis-like radiological signs (e.g. triangularization of distal radial epiphyses, pyramidalization of distal carpal row, and lucency of the distal radius on the ulnar side). Mesomelic disproportions and Madelung deformity are not apparent at a young age, but may develop later in life or never." "" + "immunodeficiency without anhidrotic ectodermal dysplasia" "" + "nystagmus 5, congenital, X-linked" "" + "Cornelia de Lange syndrome 2" "An X-linked inherited form of Cornelia De Lange syndrome caused by mutations in the SMC1A gene mapped to chromosome Xp11.22. Patients have a milder form of the syndrome compared to patients with the NIPBL gene mutation." "" + "Aland island eye disease" "An X-linked recessive retinal disease characterized by fundus hypopigmentation, decrased visual acuity, nystagmus, astigmatism, progressive axial myopia, defective dark adaptation and protanopia." "" + "obsolete Clark-Baraitser syndrome" "" "true" + "premature ovarian failure 2B" "Any primary ovarian failure in which the cause of the disease is a mutation in the POF1B gene." "" + "retinitis pigmentosa 34" "A retinitis pigmentosa that has material basis in variation in the chromosome region Xq28." "" + "developmental and epileptic encephalopathy, 8" "" + "obsolete Brooks-Wisniewski-brown syndrome" "" "true" + "myopia 13, X-linked" "" + "X-linked hereditary sensory and autonomic neuropathy with hearing loss" "This syndrome is characterized by the association of an axonal sensory and autonomic neuropathy with hearing loss." "" + "auditory neuropathy" "A hearing disorder characterized by impaired transmission of signals through the auditory nerve, resulting in mild to severe hearing loss and poor speech perception." "" + "Brunner syndrome" "Monoamine oxidase-A deficiency is a very rare recessive X-linked biogenic amine metabolism disorder characterized clinically by mild intellectual deficit, impulsive aggressiveness, and sometimes violent behavior and presenting from childhood." "" + "inborn disorder of neurotransmitter metabolism and transport" "" + "cataract, ataxia, short stature, and intellectual disability" "" + "Tn polyagglutination syndrome" "" + "fragile X-associated tremor/ataxia syndrome" "Fragile X-associated tremor/ataxia syndrome (FXTAS) is a rare neurodegenerative disorder characterized by adult-onset progressive intention tremor and gait ataxia." "" + "fragile X syndrome" "A genetic syndrome caused by mutations in the FMR1 gene which is responsible for the expression of the fragile X mental retardation 1 protein. This protein participates in neural development. This syndrome is manifested with mental, emotional, behavioral, physical, and learning disabilities." "" + "hypospadias 1, X-linked" "" + "X-linked lymphoproliferative disease due to XIAP deficiency" "A condition of decreased or absent presence of baculoviral IAP repeat-containing protein 4. Deficiency of this protein is associated with X-linked lymphoproliferative syndrome 2." "" + "X-linked lymphoproliferative syndrome" "X-linked lymphoproliferative disease is a hereditary immunodeficiency characterized, in the majority of cases, by an inadequate immune response to infection with the Epstein-Barr virus (EBV)." "" + "immunodeficiency 33" "Any immunodeficiency disease in which the cause of the disease is a mutation in the IKBKG gene." "" + "X-linked mendelian susceptibility to mycobacterial diseases" "X-linked (XR) Mendelian susceptibility to mycobacterial diseases (MSMD) describes a rare group of immunodeficiencies due to specific mutations in the inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma (IKBKG) or the cytochrome b-245, beta polypeptide (CYBB) genes. They are characterized by mycobacterial infections, occuring in males." "" + "obsolete invasive pneumococcal disease, recurrent isolated, 2" "" "true" + "rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked" "" + "rolandic epilepsy-speech dyspraxia syndrome" "Rolandic epilepsy-speech dyspraxia syndrome is a rare, genetic epilepsy characterized by speech disorder (including a range of symptoms from dysarthria, speech dyspraxia, receptive and expressive language delay/regression and acquired aphasia to subtle impairments of conversational speech) and epilepsy (mostly focal and secondary generalized childhood-onset seizures, sometimes with aura). Mild to severe intellectual disability may also be observed." "" + "X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency" "Any X-linked mendelian susceptibility to mycobacterial diseases in which the cause of the disease is a mutation in the CYBB gene." "" + "ocular albinism with late-onset sensorineural deafness" "Ocular albinism with late-onset sensorineural deafness (OASD), is a rare, X-linked inherited type of ocular albinism described in one African kindred (7 males over 3 generations) to date, characterized by severe visual impairment, translucent pale-blue iridies, a reduction in the retinal pigment and moderately severe deafness by middle age (fourth to fifth decade of life). It is unclear whether it is allelic to X-linked recessive ocular albinism or a contiguous gene syndrome." "" + "ocular albinism" "Albinism affecting the eye in which pigment of the hair and skin is normal or only slightly diluted. The classic type is X-linked (Nettleship-Falls), but an autosomal recessive form also exists. Ocular abnormalities may include reduced pigmentation of the iris, nystagmus, photophobia, strabismus, and decreased visual acuity." "" + "angioma serpiginosum, X-linked" "" + "glycogen storage disease due to phosphoglycerate kinase 1 deficiency" "Phosphoglycerate kinase (PGK) deficiency is a metabolic disorder characterized by variable combinations of nonspherocytic hemolytic anemia, myopathy, and various central nervous system abnormalities." "" + "intellectual disability, X-linked 93" "Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the BRWD3 gene." "" + "obsolete leukoencephalopathy-metaphyseal chondrodysplasia syndrome" "" "true" + "phosphoribosylpyrophosphate synthetase superactivity" "Phosphoribosylpyrophosphate (PRPP) synthetase superactivity is an X-linked disorder of purine metabolism associated with hyperuricemia and hyperuricosuria, comprised of two forms: an early-onset severe form characterized by gout, urolithiasis, and neurodevelopmental anomalies (severe PRPP synthetase superactivity) and a mild late-onset form with no neurologic involvement (mild PRPP synthetase superactivity)." "" + "developmental and epileptic encephalopathy, 2" "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the CDKL5 gene." "" + "atypical Rett syndrome" "Atypical Rett syndrome (atypical RTT) is a neurodevelopmental disorder that is diagnosed when a child presents with a Rett-like syndrome but does not fulfill all the diagnostic criteria for typical Rett syndrome (classic/typical RTT)." "" + "West syndrome" "West syndrome (or infantile spasms) is characterised by the association of clusters of axial spasms, psychomotor retardation and an hypsarrhythmic interictal EEG pattern. It is the most frequent type of epileptic encephalopathy. It may occur in otherwise healthy infants and in those with abnormal cognitive development." "" + "CDKL5 disorder" "A monogenic disease that has material basis in mutation in the CDKL5 gene." "" + "severe neonatal-onset encephalopathy with microcephaly" "An X-linked recessive condition caused by mutation(s) in the MECP2 gene, encoding methyl-CpG-binding protein 2. It is characterized by severe neonatal encephalopathy." "" + "neonatal epilepsy syndrome" "" + "syndromic X-linked intellectual disability 14" "Any X-linked syndromic intellectual disability in which the cause of the disease is a mutation in the UPF3B gene." "" + "chromosome Xp21 deletion syndrome" "" + "inborn glycerol kinase deficiency" "An acquired metabolic disease that is has its basis in the disruption of glycerol kinase activity." "" + "X-linked scapuloperoneal muscular dystrophy" "X-linked scapuloperoneal muscular dystrophy (X-linked SPMD) is a skeletal muscle disease characterized by late onset, co-occurrence of scapular and peroneal muscle weakness, and scapular winging." "" + "X-linked myopathy with postural muscle atrophy" "X-linked myopathy with postural muscle atrophy is a rare progressive muscular dystrophy characterized by an adult-onset scapulo-axio-peroneal myopathy. Clinical presentation includes shoulder girdle atrophy, scapular winging, axial muscular atrophy of postural muscles combined with a generalized hypertrophy. Typically, neck rigidity, rigid spine, Achilles tendon shortening, and respiratory insufficiency later in disease course are present." "" + "syndromic X-linked intellectual disability 94" "A syndromic X-linked intellectual disability characterized by moderate intellectual disability with variable occurrence of asthenic body habitus, dysmorphic features, autistic features, macrocephaly, seizures, myoclonic jerks, and hyporeflexia that has material basis in mutation in the GRIA3 gene on chromosome Xq25." "" + "X-linked intellectual disability due to GRIA3 anomalies" "" + "albinism-hearing loss syndrome" "A syndromic genetic hearing loss is characterised by congenital nerve deafness and piebaldness with no ocular albinism. It has been described in one large pedigree. Transmission is X-linked with affected males presenting with profound sensorineural deafness and severe pigmentary abnormalities of the skin, and carrier females presenting with variable hearing impairment without any pigmentary changes. The causative gene has been mapped to Xq26.3-q27.1." "" + "X-linked non progressive cerebellar ataxia" "X-linked non progressive cerebellar ataxia is a rare hereditary ataxia characterized by delayed early motor development, severe neonatal hypotonia, non-progressive ataxia and slow eye movements, presenting normal cognitive abilities and absence of pyramidal signs. Frequently patients also manifest intention tremor, mild dysphagia, and dysarthria. Brain MRI reveals global cerebellar atrophy with absence of other malformations or degenerations of the central and peripheral nervous systems." "" + "prostate cancer, hereditary, X-linked 2" "" + "chromosome Xp11.22 duplication syndrome" "" + "intellectual disability, X-linked syndromic, Turner type" "X-linked intellectual disability, Turner type is characterised by moderate to severe intellectual deficit in boys and moderate intellectual deficit in girls. It has been described in 14 members from four generations of one family. Macrocephaly was reported and holoprosencephaly may also be present (two family members). The mode of transmission is X-linked semi-dominant." "" + "syndactyly-telecanthus-anogenital and renal malformations syndrome" "This syndrome is characterised by the association of toe syndactyly, facial dysmorphism including telecanthus (abnormal distance between the eyes) and a broad nasal tip, urogenital malformations and anal atresia." "" + "syndromic X-linked intellectual disability Shrimpton type" "X-linked intellectual disability, Shrimpton type is characterised by the association of severe intellectual deficit with microcephaly, strabismus and short stature. It has been described in three boys from two unrelated families. Transmission is X-linked recessive and the causative gene has been localised to the q12-Xq21.31 region of the X-chromosome." "" + "alopecia, androgenetic, 2" "" + "pyloric stenosis, infantile hypertrophic, 4" "" + "X-linked intellectual disability-craniofacioskeletal syndrome" "X-linked intellectual disability-craniofacioskeletal syndrome is a rare, hereditary, syndromic intellectual disability characterized by craniofacial and skeletal abnormalities in association with mild intellectual disability in females and early postnatal lethality in males. In addition to mild cognitive impairment, females present with microcephaly, short stature, skeletal features and extra temporal lobe gyrus. In males, intrauterine growth impairment, cardiac and urogenital anomalies have been reported." "" + "intellectual disability, X-linked 95" "" + "myopathy, reducing body, X-linked, early-onset, severe" "" + "reducing body myopathy" "Reducing body myopathy (RBM) is a rare muscle disorder marked by progressive muscle weakness and the presence of characteristic inclusion bodies in affected muscle fibres." "" + "myopathy, reducing body, X-linked, childhood-onset" "" + "deafness, cataract, retinitis pigmentosa, and sperm abnormalities" "" + "syndromic X-linked intellectual disability Najm type" "Najm type X-linked intellectual deficit is a rare cerebellar dysgenesis syndrome characterized by variable clinical manifestations ranging from mild intellectual deficit with or without congenital nystagmus, to severe cognitive impairment associated with cerebellar and pontine hypoplasia/atrophy and abnormalities of cortical development." "" + "hereditary spastic paraplegia 34" "X-linked spastic paraplegia type 34 is a pure form of hereditary spastic paraplegia characterized by late childhood- to early adulthood-onset of slowly progressive spastic paraplegia with spastic gait and lower limb hyperreflexia, brisk tendon reflexes and ankle clonus. Lower limb pain and reduced lower limb vibratory sense is also reported in some older adult patients." "" + "X-linked pure spastic paraplegia" "" + "obsolete X-linked sideroblastic anemia" "" "true" + "X-linked erythropoietic protoporphyria" "X-linked form of erythropoietic protoporphyria." "" + "Bruton-type agammaglobulinemia" "X-linked agammaglobulinemia (XLA) is a clinically variable form of isolated agammaglobulinemia, an inherited immunodeficiency disorder, and is characterized in affected males by recurrent bacterial infections during infancy." "" + "isolated agammaglobulinemia" "Isolated agammaglobulinemia (IA) is the non-syndromic form of agammaglobulinemia, a primary immunodeficiency disease, and is characterized by deficient gamma globulins and associated predisposition to frequent and recurrent infections from infancy." "" + "Alzheimer disease 16" "An Alzheimer's disease that is characterized by an associated with a risk allele in in the PCDH11X gene on chromosome Xq21.3." "" + "hypospadias 2, X-linked" "" + "surfactant metabolism dysfunction, pulmonary, 4" "" + "hereditary pulmonary alveolar proteinosis" "Congenital pulmonary alveolar proteinosis is a very rare primary interstitial lung disease due to pulmonary surfactant accumulation within the alveolar macrophages and alveoli, characterized by a variable clinical course ranging from an asymptomatic clinical presentation and spontaneous remission, to symptoms such as dyspnea and cough, or to severe respiratory failure." "" + "Lisch epithelial corneal dystrophy" "Lisch epithelial corneal dystrophy (LECD) is a very rare form of superficial corneal dystrophy characterized by feather-shaped opacities and microcysts in the corneal epithelium arranged in a band-shaped and sometimes whorled pattern, occasionally with impaired vision." "" + "X-linked endothelial corneal dystrophy" "X-linked endothelial corneal dystrophy (XECD) is a rare subtype of posterior corneal dystrophy characterized by congenital ground glass corneal clouding or a diffuse corneal haze, and blurred vision in male patients." "" + "syndromic X-linked intellectual disability Raymond type" "A syndromic X-linked intellectual disability characterized by intellectual disability and marfanoid habitus that has material basis in mutation in the ZDHHC9 gene on chromosome Xq26.1." "" + "chromosome Xp11.23-p11.22 duplication syndrome" "A form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures." "" + "partial duplication of the short arm of chromosome X" "" + "intellectual disability, X-linked 96" "Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the SYP gene." "" + "intellectual disability, X-linked 97" "Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the ZNF711 gene." "" + "Joubert syndrome 10" "Any Joubert syndrome in which the cause of the disease is a mutation in the OFD1 gene." "" + "thrombophilia, X-linked, due to factor 9 defect" "A hemostatic disorder characterized by a tendency to thrombosis that has X-linked recessive inheritance, and can be caused by a gain-of-function mutation in the gene encoding factor IX (F9)." "" + "systemic lupus erythematosus, susceptibility to, 15" "" + "nystagmus 6, congenital, X-linked" "" + "chromosome Xq28 duplication syndrome" "" + "severe X-linked mitochondrial encephalomyopathy" "Severe X-linked mitochondrial encephalomyopathy is an extremely rare mitochondrial respiratory chain disease resulting in a neurodegenerative disorder characterized by psychomotor delay, hypotonia, areflexia, muscle weakness and wasting in the two patients reported to date." "" + "paroxysmal nocturnal hemoglobinuria 1" "Any paroxysmal nocturnal hemoglobinuria in which the cause of the disease is a mutation in the PIGA gene." "" + "inherited paroxysmal nocturnal hemoglobinuria" "An instance of paroxysmal nocturnal hemoglobinuria that is inherited." "" + "cardiomyopathy, fatal fetal, due to myocardial calcification" "" + "autism, susceptibility to, X-linked 4" "" + "CK syndrome" "" + "46,XX sex reversal 3" "" + "macular degeneration, X-linked atrophic" "" + "X-linked dyserythropoetic anemia with abnormal platelets and neutropenia" "" + "GATA1-Related X-Linked Cytopenia" "X-Linked cytopenia characterized by anemia and/or thrombocytopenia. Additional features including platelet dysfunction, dyserythropoesis, mild beta-thalassemia, neutropenia, or congenital erythropoetic porphyria may be present. These GATA1 variants are germline as opposed to GATA1 variants seen in leukemia." "" + "obsolete McLeod syndrome" "" "true" + "X-linked cone dysfunction syndrome with myopia" "X-linked cone dysfunction syndrome with myopia is characterised by moderate to high myopia associated with astigmatism and deuteranopia. Less than 10 families have been described so far. Transmission is X-linked recessive and the locus has been mapped to Xq28." "" + "intellectual disability, X-linked 19" "Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the RPS6KA3 gene." "" + "moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome" "Moyamoya angiopathy - short stature - facial dysmorphism - hypergonadotropic hypogonadism is a very rare, hereditary, neurological, dysmorphic syndrome characterized by moyamoya disease, short stature of postnatal onset, and stereotyped facial dysmorphism." "" + "autism, susceptibility to, X-linked 5" "" + "intellectual disability, X-linked 89" "" + "intellectual disability, X-linked 41" "Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the GDI1 gene." "" + "intellectual disability, X-linked 90" "Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the DLG3 gene." "" + "intellectual disability, X-linked 92" "" + "intellectual disability, XMEN-linked 88" "" + "X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia" "X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia is a rare combined T and B cell immunodeficiency characterized by recurrent sinopulmonary and viral infections, persistent elevated Epstein-Barr virus (EBV) viremia and increased susceptibility to EBV-associated B-cell lymphoproliferative disorders. Immunological analyses show normal lymphocyte count or mild to moderate lymphopenia, inverted CD4:CD8 T-cell ratio and hypogammaglobulinemias." "" + "renal cell carcinoma, Xp11-associated" "" + "MIT family translocation renal cell carcinoma" "MiT family translocation renal cell carcinoma (t-RCC) is a rare subtype of renal cell carcinoma with recurrent genetic abnormalities, harboring rearrangements of the TFE3 (Xp11 t-RCC) or TFEB [t(6;11) t-RCC] genes. The t(6;11) t-RCC has distinctive histologic features of biphasic appearance with larger epitheloid and smaller eosinophilic cells. The symptoms are usually non-specific and include hematuria, flank pain, palpable abdominal mass and/or systemic symptoms of anemia, fatigue and fever." "" + "Ogden syndrome" "Ogden syndrome is a rare, genetic progeroid syndrome characterized by a variable phenotype including postnatal growth delay, severe global developmental delay, hypotonia, non-specific dysmorphic facies with aged appearance and cryptorchidism, as well as cardiac arrthymias and skeletal anomalies. Patients typically present with widely opened fontanels, mainly truncal hypotonia, a waddling gait with hypertonia of the extremities, small hands and feet, broad great toes, scoliosis and redundant skin with lack of subcutaneous fat." "" + "NAA10-related syndrome" "NAA10-related syndrome is an X-linked syndromic intellectual disability in which the cause of the disease is a mutation in the NAA10 gene. Patients with variants in the NAA10 gene demonstrate symptoms such as developmental delay, intellectual disability, autism spectrum disorder, hypotonia, facial dysmorphism, cardiac anomalies, and/or skeletal anomalies." "" + "hypospadias 4, X-linked" "" + "amyotrophic lateral sclerosis type 15" "Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the UBQLN2 gene." "" + "syndromic X-linked intellectual disability 17" "Intellectual disability-alacrima-achalasia syndrome is a rare, genetic intellectual disability syndrome characterized by delayed motor and cognitive development, absence or severe delay in speech development, intellectual disability, and alacrima. Achalasia/dysphagia and mild autonomic dysfunction (i.e. anisocoria) have also been reported in some patients. The phenotype is similar to the one observed in autosomal recessive Triple A syndrome, but differs by the presence of intellectual disability in all affected individuals." "" + "syndromic X-linked intellectual disability Nascimento type" "X-linked intellectual disability, Nascimento type is a rare X-linked intellectual disability syndrome characterized by intellectual disability (with severe speech impairment), a myxedematous appearance, dysmorphic facial features (including large head, synophrys, prominent supraorbital ridges, almond-shaped and deep-set eyes, large ears, wide mouth with everted lower lip and downturned lip corners), low posterior hairline, short, broad neck, marked general hirsutism and abnormal hair whorls, skin changes (e.g. dry skin or hypopigmented spots), widely spaced nipples, obesity, micropenis, onychodystrophy and seizures." "" + "syndromic X-linked intellectual disability Chudley-Schwartz type" "A syndromic X-linked intellectual disability characterized by moderate intellectual disability, seizures, dysmorphic facial features and in some older patients slowly progressive unsteady gait and progressive weakness that has material basis in variation in the chromosomal region Xq21.33-q23." "" + "X-linked dominant chondrodysplasia, Chassaing-Lacombe type" "X-linked dominant chondrodysplasia Chassaing-Lacombe type is a rare genetic bone disorder characterized by chondrodysplasia, intrauterine growth retardation (IUGR), hydrocephaly and facial dysmorphism in the affected males." "" + "X-linked cerebral-cerebellar-coloboma syndrome syndrome" "X-linked cerebral-cerebellar-coloboma syndrome is a rare, genetic syndrome with a cerebellar malformation as major feature characterized by cerebellar vermis hypo- or aplasia, ventriculomegaly, agenesis of corpus callosum and abnormalities of the brainstem and cerebral cortex in association with ocular coloboma. Clinically, patients show hydrocephalus at birth, neonatal hypotonia with abnormal breathing pattern, ocular abnormalities with impaired vision, severe psychomotor delay, and seizures." "" + "Kabuki syndrome 2" "" + "multiple congenital anomalies-hypotonia-seizures syndrome 2" "Any multiple congenital anomalies/dysmorphic syndrome-intellectual disability in which the cause of the disease is a mutation in the PIGA gene." "" + "multiple congenital anomalies-hypotonia-seizures syndrome" "" + "Xq27.3q28 duplication syndrome" "Xq27.3q28 duplication syndrome is a recently described syndrome characterized by short stature, hypogonadism, developmental delay and facial dysmorphism." "" + "aneurysm, intracranial berry, 5" "" + "epsilon-trimethyllysine hydroxylase deficiency" "" + "obsolete Baratela-Scott syndrome" "" "true" + "Cornelia de Lange syndrome 5" "" + "developmental and epileptic encephalopathy, 36" "" + "X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome" "A syndromic X-linked intellectual disability characterized by intellectual disability, delayed psychomotor development, seizures, large joint contractures, cardiac abnormalities, and abnormal positioning of the thumbs that has material basis in mutation in the CLIC2 gene on chromosome Xq28." "" + "linear skin defects with multiple congenital anomalies 2" "Any microphthalmia with linear skin defects syndrome in which the cause of the disease is a mutation in the COX7B gene." "" + "linear skin defects with multiple congenital anomalies" "A genetic condition that affects the eyes and skin. It is mainly found in females and is characterized by small or poorly developed eyes (microphthalmia) and characteristic linear skin markings on the head and neck. The signs and symptoms of this condition may include abnormalities of the brain, heart, and genitourinary system. Other symptoms may include short stature, developmental delay, and finger and toenails that do not grow normally (nail dystrophy). MLS syndrome is typically caused by either a deletion of certain genetic material on the p (short) arm of the X chromosome or by a mutation in the HCCS gene. In some cases, it may be caused by mutations in the COX7B and NDUFB11 genes, (also located on the X chromosome). According to the mutated gene, the disease may be classified in three subtypes. This condition is inherited in an X-linked manner and is thought to result in serious early developmental concerns in males, leading to almost no males with this condition surviving to delivery.Although there is no specific treatment or cure for MLS syndrome, there may be ways to manage the symptoms. A team of doctors is often needed to figure out the treatment options based on each person's symptoms." "" + "X-linked central congenital hypothyroidism with late-onset testicular enlargement" "An X-linked recessive syndrome caused by loss-of-function mutation(s) in IGSF1, encoding immunoglobulin superfamily member 1. This condition can result in central hypothyroidism, macroorchidism, delayed puberty, and variable prolactin deficiency." "" + "neurodegeneration with brain iron accumulation 5" "Beta-propeller protein-associated neurodegeneration (BPAN), also known as static encephalopathy of childhood with neurodegeneration in adulthood, is a rare form of neurodegeneration with brain iron accumulation (NBIA) characterized by early-onset developmental delay and further neurological deterioration in early adulthood." "" + "blepharophimosis - intellectual disability syndrome, MKB type" "The Maat-Kievit-Brunner type of Ohdo syndrome is a rare condition characterized by intellectual disability and distinctive facial features. It has only been reported in males." "" + "MED12-related intellectual disability syndrome" "An X-linked syndromic intellectual disability that that includes subtypes of the heterogeneous, eponymously named Lujan-Fryns syndrome, X-linked Ohdo syndrome, and Optiz-Kaveggia/ FG syndrome, which is caused by mutations in the gene MED12. The common and most penetrant phenotype shared amongst these disease entities is intellectual disability, with dysgenesis or agenesis of the corpus callosum, blepharophimosis, and marfanoid habitus having variable phenotypic expressivity." "" + "SLC35A2-CDG" "SLC35A2-CDG is a congenital disorder of glycosylation characterized by severe or profound global developmental delay, early epileptic encephalopathy, muscular hypotonia, dysmorphic features (coarse facies, thick eyebrows, broad nasal bridge, thick lips, inverted nipples), variable ocular defects and brain morphological abnormalities on brain MRI (cerebral atrophy, thin corpus callosum)." "" + "Charcot-Marie-Tooth disease X-linked dominant 6" "X-linked Charcot-Marie-Tooth disease type 6 is a rare, genetic, principally axonal, peripheral sensorimotor neuropathy characterized by an X-linked dominant inheritance pattern and the childhood-onset of slowly progressive, moderate to severe, distal muscle weakness and atrophy of the lower extremities, as well as distal, panmodal sensory abnormalities, bilateral foot deformities (pes cavus, clawed toes), absent ankle reflexes and gait abnormalities (steppage gait). Females are usually asymptomatic or only present mild manifestations (mild postural hand tremor, mild wasting of hand intrinsic muscles)." "" + "Charcot-Marie-Tooth disease type X" "A subtype of Charcot-Marie-Tooth disease with genetic defects on the X chromosome." "" + "anemia, nonspherocytic hemolytic, due to G6PD deficiency" "" + "angioedema" "Swelling involving the deep dermis, subcutaneous, or submucosal tissues, representing localized edema. Angioedema often occurs in the face, lips, tongue, and larynx." "" + "X-linked parkinsonism-spasticity syndrome" "X-linked parkinsonism-spasticity syndrome is a rare genetic neurological disorder characterized by parkinsonian features (including resting or action tremor, cogwheel rigidity, hypomimia and bradykinesia) associated with variably penetrant spasticity, hyperactive deep tendon reflexes and Babinski sign." "" + "X-linked intellectual disability, Cantagrel type" "X-linked Mental retardation Cantagrel type is characterised by marked neonatal hypotonia, progressive quadriparesia, severely delayed developmental milestones (walking at 3 years of age), gastroesophageal reflux, stereotypic movements of the hands, esotropia and infantile autism." "" + "hearing loss, X-linked 6" "Any X-linked nonsyndromic deafness in which the cause of the disease is a mutation in the COL4A6 gene." "" + "X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome" "X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome is a rare syndromic microphthalmia disorder characterized by microphthalmia with coloboma (which may involve the iris, cilary body, choroid, retina and/or optic nerve), microcephaly, short stature and intellectual disability. Other eye abnormalities such as pendular nystagmus, esotropia and ptosis may also be present. Additional associated abnormalities include kyphoscoliosis, anteverted pinnae with minimal convolutions, diastema of the incisors and congenital pes varus." "" + "Olmsted syndrome, X-linked" "" + "Olmsted syndrome" "" + "intellectual disability, X-linked 99" "Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the USP9X gene." "" + "intellectual disability, X-linked 100" "Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the KIF4A gene." "" + "intellectual disability, X-linked 101" "Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the MID2 gene." "" + "SSR4-CDG" "(Xq28)." "" + "X-linked acrogigantism due to Xq26 microduplication" "" + "familial infantile gigantism" "" + "pituitary adenoma, growth hormone-secreting, 2" "Any pituitary gland adenoma in which the cause of the disease is a mutation in the GPR101 gene." "" + "acromegaly" "Acromegaly is an acquired disorder related to excessive production of growth hormone (GH) and characterized by progressive somatic disfigurement (mainly involving the face and extremities) and systemic manifestations." "" + "Diamond-Blackfan anemia 14 with mandibulofacial dysostosis" "Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the TSR2 gene." "" + "linear skin defects with multiple congenital anomalies 3" "Any microphthalmia with linear skin defects syndrome in which the cause of the disease is a mutation in the NDUFB11 gene." "" + "trichothiodystrophy 5, nonphotosensitive" "Any nonphotosensitive trichothiodystrophy in which the cause of the disease is a mutation in the RNF113A gene." "" + "X-linked intellectual disability-short stature-overweight syndrome" "X-linked intellectual disability-short stature-overweight syndrome is a multiple congenital anomalies syndrome characterized by borderline to severe intellectual disability, speech delay, short stature, elevated body mass index, a pattern of truncal obesity (reported in older males), and variable neurologic features (e.g. hypotonia, tremors, gait disturbances, behavioral problems, and seizure disorders). Less common manifestations include microcephaly, microorchidism and/or microphallus. Dysmorphic features have been reported in some patients but no consitent pattern has been noted." "" + "intellectual disability, X-linked 102" "An inherited condition caused by mutation(s) in the DDX3X gene, encoding ATP-dependent RNA helicase DDX3X. It is characterized by severe intellectual disability and variable neurologic features." "" + "MEND syndrome" "" + "Ritscher-Schinzel syndrome 2" "Any Ritscher-Schinzel syndrome in which the cause of the disease is a mutation in the CCDC22 gene." "" + "intellectual disability, X-linked, syndromic 33" "Any X-linked syndromic intellectual disability in which the cause of the disease is a mutation in the TAF1 gene." "" + "syndromic X-linked intellectual disability 34" "Macrocephaly-intellectual disability-left ventricular non compaction syndrome is a rare, genetic, syndromic intellectual disability characterized by motor and cognitive developmental delay with language impairment, macrocephaly, hypotonia, dysmorphic facial features (including long face, slanting palpebral fissures and prominent, flattened nose) and left ventricular noncompaction cardiomyopathy. Patients also present skeletal abnormalities (e.g. scoliosis, finger clinodactyly, pes planus), slender build and shy behavior. Strabismus and various neurological signs (including ataxia, tremor and hyperreflexia) may be associated, as well as epilepsy, autism and MRI findings showing a small cerebellum and abnormalities of the corpus callosum. A phenotypic variant with no cardiac involvement has been reported." "" + "intellectual disability, X-linked 99, syndromic, female-restricted" "Any X-linked syndromic intellectual disability in which the cause of the disease is a mutation in the USP9X gene." "" + "Bartter disease type 5" "Any Bartter syndrome in which the cause of the disease is a mutation in the MAGED2 gene." "" + "immunodeficiency 47" "Any primary immunodeficiency disease in which the cause of the disease is a mutation in the ATP6AP1 gene." "" + "intellectual disability-balding-patella luxation-acromicria syndrome" "Intellectual disability-balding-patella luxation-acromicria syndrome is characterised by severe intellectual deficit, patella luxations, acromicria, hypogonadism, facial dysmorphism (including midface hypoplasia and premature frontotemporal balding). It has been described in three unrelated males." "" + "intellectual disability, X-linked 61" "Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the RLIM gene." "" + "Xq25 microduplication syndrome" "" + "intellectual disability, X-linked 103" "Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the KLHL15 gene." "" + "intellectual disability, X-linked 104" "Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the FRMPD4 gene." "" + "intellectual disability, X-linked 105" "Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the USP27X gene." "" + "vas deferens, congenital bilateral aplasia of, X-linked" "" + "intellectual disability, X-linked, syndromic, bain type" "" + "obsolete intellectual disability, X-linked, syndromic, Borck type" "" "true" + "combined immunodeficiency due to moesin deficiency" "" + "Meester-Loeys syndrome" "" + "midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis" "" + "ciliary dyskinesia, primary, 36, X-linked" "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the PIH1D3 gene." "" + "Wiskott-Aldrich syndrome" "Wiskott-Aldrich syndrome (WAS) is a primary immunodeficiency disease characterized by microthrombocytopenia, eczema, infections and an increased risk for autoimmune manifestations and malignancies." "" + "alpha thalassemia-X-linked intellectual disability syndrome" "X-linked alpha thalassaemia mental retardation (ATR-X) syndrome in males is associated with profound developmental delay, facial dysmorphism, genital abnormalities and alpha thalassaemia. Female carriers are usually physically and intellectually normal." "" + "ATR-X-related syndrome" "" + "X-linked Alport syndrome" "X-linked form of Alport syndrome." "" + "amelogenesis imperfecta type 1E" "Any amelogenesis imperfecta in which the cause of the disease is a mutation in the AMELX gene." "" + "X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2" "An amelogenesis imperfecta associated with mutation in a gene in the Xq22-q28 region." "" + "X-linked reticulate pigmentary disorder" "X-linked reticulate pigmentary disorder is an extremely rare skin disease described in only four families to date and characterized in males by diffuse reticulate brown hyperpigmentated skin lesions developing in early childhood and a variety of systemic manifestations (recurrent pneumonia, corneal opacification, gastrointestinal inflammation, urethral stricture, failure to thrive, hypohidrosis, digital clubbing, and unruly hair and flared eyebrows), while in females, there is only cutaneous involvement with the development in early childhood of localized brown hyperpigmented skin lesions following the lines of Blaschko. This disease was first considered as a cutaneous amyloidosis, but amyloid deposits are an inconstant feature." "" + "X-linked sideroblastic anemia with ataxia" "X-linked sideroblastic anemia and ataxia (XLSA-A) is a rare syndromic, inherited form of sideroblastic anemia in which the cause of the disease is a mutation in the ABCB7 gene and is characterized by mild to moderate anemia (with hypochromia and microcytosis) and early-onset, non- or slowly progressive spinocerebellar ataxia." "" + "unspecified inborn mitochondrial disorder" "" + "X-linked sideroblastic anemia 1" "" + "neural tube defects, X-linked" "" + "isolated spina bifida" "A spina bifida (disease) that is not part of a larger syndrome." "" + "Fabry disease" "Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." "" + "obsolete microphthalmia-ankyloblepharon-intellectual disability syndrome" "" "true" + "X-linked spinocerebellar ataxia type 3" "X-linked spinocerebellar ataxia type 3 is a form of spinocerebellar degeneration characterized by onset in infancy of hypotonia, ataxia, sensorineural deafness, developmental delay, esotropia, and optic atrophy, and by a progressive course leading to death in childhood. It has been described one family with at least six affected males from five different sibships (connected through carrier females). It is transmitted as an X-linked recessive trait." "" + "obsolete anus, imperforate" "" "true" + "contractures-ectodermal dysplasia-cleft lip/palate syndrome" "Contractures - ectodermal dysplasia - cleft lip/palate is an ectodermal dyplasia syndrome characterized by severe arthrogryposis, multiple ectodermal dysplasia features, cleft lip/palate, facial dysmorphism, growth deficiency and a moderate delay of psychomotor development. Ectodermal dysplasia manifestations include sparse, brittle and hypopigmented hair, xerosis, multiple nevi, small conical shaped teeth and hypodontia, and facial dysmorphism with blepharophimosis, deep-set eyes and micrognathia." "" + "infantile-onset X-linked spinal muscular atrophy" "A rare form of spinal muscular atrophy characterized by the neonatal onset of severe hypotonia, areflexia, profound weakness, multiple congenital contractures, facial dysmorphic features (myopathic face with open, tent-shaped mouth), cryptorchidism, and mild skeletal abnormalities (i.e. kyphosis, scoliosis), that is often preceded by polyhydramnios and reduced fetal movements in utero and followed by bone fractures shortly after birth. SMAX2 patients often have a limited life span, often succumbing to the disease within 2 years, as muscle weakness is progressive and chest muscle involvement eventually leads to ventilatory insufficiency and respiratory failure." "" + "Arts syndrome" "Lethal ataxia with deafness and optic atrophy (also known as Arts syndrome) is characterized by intellectual deficit, early-onset hypotonia, ataxia, delayed motor development, hearing impairment and loss of vision due to optic atrophy." "" + "X-linked spinocerebellar ataxia type 4" "Spinocerebellar ataxia, X-linked, type 4 is characterised by ataxia, pyramidal tract signs and adult-onset dementia. It has been described in three generations of one large family. The disease manifests during early childhood with delayed walking and tremor. The pyramidal signs appear progressively and by adulthood memory problems and dementia gradually become apparent. Transmission is X-linked but the causative gene has not yet been identified. The disease is usually fatal during the sixth decade of life." "" + "Bazex-Dupre-Christol syndrome" "Bazex-Dupre-Christol syndrome is a rare genodermatosis (hereditary skin disease) with a predisposition to early-onset basal cell carcinomas." "" + "tubulin, beta" "" + "Borjeson-Forssman-Lehmann syndrome" "Borjeson-Forssman-Lehmann syndrome (BFLS) is a rare X-linked obesity syndrome characterized by intellectual deficit, truncal obesity, characteristic facial features, hypogonadism, tapered fingers and short toes." "" + "Mononen-Karnes-Senac syndrome" "Mononen-Karnes-Senac syndrome is characterized by skeletal dysplasia associated with finger malformations (brachydactyly with short and abducted thumbs, short index fingers, and markedly short and abducted great toes), variable mild short stature, and mild bowleg with overgrowth of the fibula. It has been described in two males, their mothers, and a maternal aunt. Females are less severely affected than males. X-linked dominant inheritance is suggested." "" + "X-linked mandibulofacial dysostosis" "X-linked mandibulofacial dysostosis is an extremely rare multiple congenital abnormality syndrome that is characterized by microcephaly, malar hypoplasia with downslanting palpebral fissures, highly arched palate, apparently low-set and protruding ears, micrognathia, short stature, bilateral hearing loss, and learning disability. Occasionally, additional features have been observed such as bilateral cryptorchidism, cardiac valvular lesions, body asymmetry, and pectus excavatum." "" + "bullous dystrophy, macular type" "Bullous dystrophy, macular type is a genetic disorder characterised by formation of bullae without traumatic origin, alopecia, hyperpigmentation, acrocyanosis, short stature, microcephaly, intellectual deficit, tapering fingers and nail abnormalities. Two families (one of whom was Dutch and the other Italian) have been described up to now, in which only males were affected. Transmission is X-linked recessive. The bullous dystrophy locus has been mapped to Xq26.3 in the Italian family and to Xq27.3 in the Dutch family." "" + "X-linked calvarial hyperostosis" "" + "qualitative or quantitative defects of dystrophin" "" + "Barth syndrome" "Barth syndrome (BTHS) is an inborn error of phospholipid metabolism characterized by dilated cardiomyopathy (DCM), skeletal myopathy, neutropenia, growth delay and organic aciduria." "" + "mitochondrial disease with dilated cardiomyopathy" "True" + "cataract 40" "Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the NHS gene." "" + "Nance-Horan syndrome" "Nance-Horan syndrome (NHS) is characterized by the association in male patients of congenital cataracts with microcornea, dental anomalies and facial dysmorphism." "" + "central incisors, absence of" "" + "X-linked progressive cerebellar ataxia" "" + "spinocerebellar ataxia, X-linked 2" "" + "Charcot-Marie-Tooth disease X-linked dominant 1" "Charcot-Marie-Tooth neuropathy that is inherited in an X-linked manner, and is associated with mutation(s) in the GJB1 gene, encoding gap junction beta-1 protein. The condition is characterized by moderate to severe motor and sensory neuropathy in males, and mild to no symptoms in females." "" + "Charcot-Marie-Tooth disease X-linked recessive 2" "X-linked Charcot-Marie-Tooth disease type 2 is a rare, genetic, peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the infantile- to childhood-onset of progressive, distal muscle weakness and atrophy (more prominent in the lower extremities than in the upper extremities), pes cavus, and absent tendon reflexes. Sensory impairment and intellectual disability has been reported in some individuals." "" + "Charcot-Marie-Tooth disease X-linked recessive 3" "X-linked Charcot-Marie-Tooth disease type 3 is a rare, genetic, peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the childhood- to adolescent-onset of progressive, distal muscle weakness and atrophy (beginning in the lower extremities and then affecting the upper extremities), as well as distal, pansensory loss in the upper and lower extremities, pes cavus, and absent or reduced distal tendon reflexes. Pain and paresthesia are frequently the initial sensory symptoms. Spastic paraparesis (manifested by clasp-knife sign, hyperactive deep-tendon reflexes, and Babinski sign) has also been reported." "" + "Charcot-Marie-Tooth peroneal muscular atrophy, X-linked, with aplasia cutis congenita" "" + "Charcot-Marie-Tooth peroneal muscular atrophy and Friedreich ataxia, combined" "" + "Abruzzo-Erickson syndrome" "Abruzzo-Erikson syndrome is a multiple congenital anomalies syndrome characterized by a cleft palate, ocular coloboma, hypospadias, mixed conductive-sensorineural hearing loss, short stature, and radio-ulnar synostosis." "" + "X-linked chondrodysplasia punctata 1" "Brachytelephalangic chondrodysplasia punctata (BCDP) is a form of nonrhizomelic chondrodysplasia punctata, a primary bone dysplasia, characterized by hypoplasia of the distal phalanges of the fingers, nasal hypoplasia, epiphyseal stippling appearing in the first year of life, and mild and nonrhizomelic shortness of the long bones." "" + "X-linked chondrodysplasia punctata" "X-linked form of chondrodysplasia punctata." "" + "choroideremia-deafness-obesity syndrome" "Choroideremia-deafness-obesity syndrome is an X-linked retinal dystrophy characterized by choroideremia, causing in affected males progressive nyctalopia and eventual central blindness. Obesity, moderate intellectual disability and congenital mixed (sensorineural and conductive) deafness are also observed. Female carriers show typical retinal changes indicative of the choroideremia carrier state." "" + "MASA syndrome" "MASA syndrome (Mental retardation, Aphasia, Spastic paraplegia, Adducted thumbs) is a historical term used to describe a phenotype now considered to be part of the X-linked L1 clinical spectrum (L1 syndrome). MASA is characterized by mild to moderate intellectual deficit, delayed development of speech, hypotonia progressing to spasticity or spastic paraplegia, adducted thumbs, and mild to moderate distension of the cerebral ventricles." "" + "L1 syndrome" "L1 syndrome is a mild to severe congenital X-linked developmental disorder characterized by hydrocephalus of varying degrees of severity, intellectual deficit, spasticity of the legs, and adducted thumbs. The syndrome represents a spectrum of disorders including: X-linked hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS), MASA syndrome, X-linked complicated hereditary spastic paraplegia type 1, and X-linked complicated corpus callosum agenesis." "" + "X-linked complex spastic paraplegia" "" + "cleft palate with or without ankyloglossia, X-linked" "X-linked cleft palate and ankyloglossia is a rare, genetic developmental defect during embryogenesis syndrome characterized by the association of complete, partial or submucous cleft palate and ankyloglossia. Patients may also present abnormal uvula (e.g. absent, bifid, shortened or laterally deviated), short lingual frenulum and dental anomalies (e.g. buccal crossbite, absent and/or misshapen teeth). Digital abnormalities, such as mild clinodactyly and/or syndactyly, have also been reported." "" + "Coffin-Lowry syndrome" "Coffin-Lowry syndrome (CLS) is a rare genetic neurological disorder characterized by psychomotor and growth retardation, facial dysmorphism, digit abnormalities, and progressive skeletal changes." "" + "colonic atresia" "Colonic atresia is a congenital intestinal malformation resulting in a non-latent segment of the colon and characterized by lower intestinal obstruction manifesting with abdominal distention and failure to pass meconium in newborns." "" + "blue cone monochromacy" "Blue cone monochromatism (BCM) is a recessive X-linked disease characterized by severely impaired color discrimination, low visual acuity, nystagmus, and photophobia, due to dysfunction of the red (L) and green (M) cone photoreceptors. BCM is as an incomplete form of achromatopsia." "" + "red-green color blindness" "Deuteranopia is a type of color vision deficiency where the green photoreceptors are absent. It affects hue discrimination in the same way as protanopia, but without the dimming effect. Like protanopia, it is hereditary, sex-linked, and found in about 1% of the male population." "" + "red color blindness" "Protanopia is a severe type of color vision deficiency caused by the complete absence of red retinal photoreceptors. Protans have difficulties distinguishing between blue and green colors and also between red and green colors. It is a form of dichromatism in which the subject can only perceive light wavelengths from 400 to 650 nm, instead of the usual 700 nm. Pure reds cannot be seen, instead appearing black; purple colors cannot be distinguished from blues; more orange-tinted reds may appear as very dim yellows, and all orange-yellow-green shades of too long a wavelength to stimulate the blue receptors appear as a similar yellow hue. It is hereditary, sex-linked, and present in 1% of males." "" + "X-linked cone-rod dystrophy 1" "" + "cone dystrophy, X-linked, with tapetal-like sheen" "" + "Aicardi syndrome" "Aicardi syndrome is a rare neurodevelopmental disorder defined by the triad of agenesis of the corpus callosum (total or partial), typical chorioretinal lacunae and infantile spasms that affect almost exclusively females." "" + "X-linked complicated corpus callosum dysgenesis" "X-linked complicated corpus callosum dysgenesis is a historical term used to describe a phenotype now considered to be part of the L1 clinical spectrum (L1 syndrome). The disorder is characterized by variable spastic paraplegia, mild to moderate intellectual deficit, and dysplasia, hypoplasia or aplasia of the corpus callosum." "" + "craniofrontonasal syndrome" "Craniofrontonasal dysplasia is an X-linked malformation syndrome characterized by facial asymmetry (particularly orbital), body asymmetry, midline defects (hypertelorism, frontal bossing, broad grooved or bifid nasal tip, cleft lip and/or palate, high arched palate), skeletal anomalies (clavicle pseudoarthrosis, coronal craniosynostosis, various digital and limb anomalies including syndactyly, clinodactyly of the 5th finger, broad thumbs) and ectodermal dysplasias (dental anomalies, grooved nails, wiry hair). Contrary to most X-linked disorders, females are much more severely affected whereas males are asymptomatic or present with a mild phenotype, frequently only displaying hypertelorism." "" + "otopalatodigital syndrome type 2" "Otopalatodigital syndrome type 2 (OPD2) is a severe form of otopalatodigital syndrome spectrum disorder, and is characterized by dysmorphic facies, severe skeletal dysplasia affecting the axial and appendicular skeleton, extraskeletal anomalies (including malformations of the brain, heart, genitourinary system, and intestine) and poor survival." "" + "otopalatodigital syndrome" "Otopalatodigital (OPD) syndrome is a form of frontootopalatodigital syndrome, characterized by deafness, cleft palate, and characteristic digital anomalies. OPD syndrome is divided into two forms based on severity: the milder form designated OPD type 1 (OPD1), and the more severe and often lethal form designated OPD type 2 (OPD2). OPD is an X-linked disorder. Two other genetic disorders with features overlapping OPD, frontometaphyseal dysplasia (FMD) and osteodysplasty, Melnick-Needles type (MNS) have been described; thus OPD1, OPD2, FMD, and MNS are allelic disorders." "" + "occipital horn syndrome" "Occipital horn syndrome (OHS) is a mild form of Menkes disease (MD), a syndrome characterized by progressive neurodegeneration and connective tissue disorders due to a copper transport defect." "" + "cutis verticis gyrata, thyroid aplasia, and intellectual disability" "" + "syndromic X-linked intellectual disability 5" "X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (XDIBS), or Pettigrew syndrome is a central nervous system malformation characterized by severe intellectual deficit, early hypotonia with progression to spasticity and contractures, choreoathetosis, seizures, dysmorphic face (long face with prominent forehead), and brain imaging abnormalities such as Dandy-Walker malformation, and iron deposition." "" + "deafness-hypogonadism syndrome" "This syndrome is characterized by the association of congenital mixed hearing loss with perilymphatic gusher (Gusher syndrome or DFN3), hypogonadism and abnormal behavior." "" + "X-linked mixed hearing loss with perilymphatic gusher" "X-linked mixed deafness with perilymphatic gusher, also known as X-linked deafness type 2, is a rare form of non-syndromic genetic deafnesss affecting males and characterized by pathognomonic inner ear anomalies and conductive and profound sensorineural hearing loss. The inner ear anomalies are described as dilatation of the internal auditory meatus and fistulous connection between the cochlear basal turn and internal auditory canal resulting in perilympatic gusher on attempted mobilization of a fixed stapes. Obligate female carriers may suffer from mild to moderate hearing loss." "" + "hearing loss, X-linked 1" "" + "deafness dystonia syndrome" "Mohr-Tranebjaerg syndrome (MTS) is an X-linked recessive neurodegenerative syndrome characterized by clinical manifestations commencing with early childhood onset hearing loss, followed by adolescent onset progressive dystonia or ataxia, visual impairment from early adulthood onwards and dementia from the 4th decade onwards." "" + "mitochondrial protein import disorder" "" + "X-linked corneal dermoid" "X-linked corneal dermoid (X-CND) is an exceedingly rare, benign, congenital, corneal tumor characterized by bilateral opacification of the cornea with superficial grayish layers and irregular raised whitish plaques, as well as fine blood vessels covering the central cornea, and intact peripheral corneal borders.No other ocular or systemic abnormality is noted. The pattern of inheritance described in the affected family is consistent with X-linked transmission." "" + "immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome" "Immunodysregulation - polyendocrinopathy - enteropathy - X-linked (IPEX) syndrome is a severe congenital systemic autoimmune disease characterized by refractory diarrhea, endocrinopathies, cutaneous involvement, and infections." "" + "autoimmune enteropathy" "Severe-immune mediated enteropathy describes a variety of intestinal disorders that can range from a serious, early-onset systemic disease (IPEX) to a mild isolated gastrointestinal disease. In children it manifests with severe diarrhea and dehydration in the presence of characteristic antibodies (anti-enterocyte and anti-goblet cell) and in adults with chronic diarrhea, malabsorption and weight loss." "" + "diabetes insipidus, nephrogenic, X-linked" "" + "obsolete diabetes insipidus, neurohypophyseal type, X-linked inheritance" "" "true" + "Dyggve-Melchior-Clausen syndrome, X-linked" "X-linked form of Dyggve-Melchior-Clausen disease." "" + "dyskeratosis congenita, X-linked" "X-linked form of dyskeratosis congenita." "" + "DKC1-related disorder" "Any dyskeratosis congenita in which the cause of the disease is a mutation in the DKC1 gene." "" + "X-linked hypohidrotic ectodermal dysplasia" "An X-linked form of ectodermal dysplasia which results from mutations of the gene encoding ectodysplasin." "" + "X-linked Ehlers-Danlos syndrome" "Ehlers-Danlos syndromes (EDS) form a heterogeneous group of hereditary connective tissue diseases characterized by joint hyperlaxity, cutaneous hyperelasticity and tissue fragility. EDS type V is characterised by hyperextensible skin but tissue fragility and joint hyperlaxity are mild. This form of EDS is very rare and has been described in only two families so far. Other reported features include congenital heart disease, hernias and short stature. Transmission is X-linked recessive." "" + "epidermodysplasia verruciformis, X-linked" "X-linked form of epidermodysplasia verruciformis." "" + "exudative vitreoretinopathy 2, X-linked" "Any exudative vitreoretinopathy in which the cause of the disease is a mutation in the NDP gene." "" + "Aarskog-Scott syndrome, X-linked" "Aarskog-Scott syndrome (AAS) is a rare developmental disorder characterized by facial, limbs and genital features, and a disproportionate acromelic short stature." "" + "FG syndrome 1" "Any FG syndrome in which the cause of the disease is a mutation in the MED12 gene." "" + "fingerprint body myopathy" "Fingerprint body myopathy is a congenital benign muscle disorder characterised by congenital hypotonia and weakness and by the presence of numerous fingerprint bodies located at the periphery of the muscle fibers. Prevalence is unknown. Less than 20 patients have been described. Few sporadic cases have been observed, as well as cases of recessive transmission." "" + "focal dermal hypoplasia" "Goltz syndrome or focal dermal hypoplasia is characterized by a polymorphic cutaneous disorder and highly variable anomalies affecting the eyes, teeth, skeleton and the central nervous, urinary, gastrointestinal and cardiovascular systems." "" + "obsolete Frontometaphyseal dysplasia" "" "true" + "inherited genitourinary tract anomalies" "" + "Sertoli cell-only syndrome" "Sertoli cell-only syndrome (SCO syndrome) is a cause of male infertility. In SCO syndrome, only Sertoli cells (cells that nurture the immature sperm) line the seminiferous tubules (tubes inside the testicles where sperm develop). Therefore, there are not any sperm cells present in the seminiferous tubules. Men typically learn they are affected between ages 20-40 years when being evaluated for infertility and are found to have no sperm production (azoospermia). Other signs and symptoms are rare, but in some cases there could be an underlying cause of SCO syndrome that causes other symptoms, such as Klinefelter syndrome. Most cases of SCO syndrome are idiopathic (of unknown cause), but causes may include deletions of genetic information on regions of the Y-chromosome, especially on the azoospermia factor (AZF) region of Y-chromosome. Other causes include exposure to chemicals or toxins, history of radiation therapy, and history of severe trauma. Diagnosis of SCO syndrome is confirmed with testicular biopsy. Although there is currently no effective treatment, assisted reproductive technology may assist some men with SCO syndrome in being able to have children." "" + "membranoproliferative glomerulonephritis, X-linked" "" + "primary membranoproliferative glomerulonephritis" "A rare glomerular disease characterized by a pattern of glomerular injury on kidney biopsy with characteristic light microscopic changes: mesangial hypercellularity, endocapillary proliferation, and thickening of the glomerular basement membrane (GBM). On the basis of immunofluorescence (IF) the disorder is divided into C3 glomerulopathy (C3G) or immunoglobulin-mediated membranoproliferative glomerulonephritis. Through electron microscopy C3G is further divided into Dense deposit disease, with highly electrondense deposits in the glomerular basement membrane, and C3 glomerulonephritis, with mesangial, intramembranous, subendothelial and subepithelial deposits. Secondary causes (autoimmune, infectious, malignancies) are excluded." "" + "glutamyl ribose-5-phosphate storage disease" "" + "glycogen storage disease IXa1" "Any glycogen storage disease in which the cause of the disease is a mutation in the PHKA2 gene, with no PHK activity in liver or erythrocytes." "" + "granulomas, congenital cerebral" "" + "granulomatous disease, chronic, X-linked" "" + "obsolete gynecomastia, familial" "An instance of gynecomastia that is caused by an inherited modification of the individual's genome." "" "true" + "hemophilia A" "Hemophilia A is the most common form of hemophilia characterized by spontaneous or prolonged hemorrhages due to factor VIII deficiency." "" + "hemophilia" "Hemophilia is a genetic disorder characterized by spontaneous hemorrhage or prolonged bleeding due to factor VIII or IX deficiency." "" + "hemophilia A with vascular abnormality" "" + "hemophilia B" "Hemophilia B is a form of hemophilia characterized by spontaneous or prolonged hemorrhages due to factor IX deficiency." "" + "hemopoietic proliferation" "" + "hernia, anterior diaphragmatic" "" + "heterotaxy, visceral, 1, X-linked" "X-linked visceral heterotaxy type 1 is a very rare form of heterotaxy that has only been reported in a few families. Heterotaxy is the right/left transposition of thoracic and/or abdominal organs. This condition is caused by mutations in the ZIC3 gene, is inherited in an X-linked recessive fashion, and is usually seen in males. Physical features include heart abnormalities such as dextrocardia, transposition of great vessels, ventricular septal defect, patent ductus arteriosus, pulmonic stenosis ; situs inversus, and missing (asplenia) and/or extra spleens (polysplenia).Affected individualscan also experience abnormalities in the development of the midline of the body, which can cause holoprosencephaly, myelomeningocele, urological anomalies, widely spaced eyes (hypertelorism), cleft palate, and abnormalities of the sacral spine and anus. Heterotaxia with recurrent respiratory infections are called primary ciliary dyskinesia." "" + "Hhhh syndrome" "" + "obsolete Hirschsprung disease with type d brachydactyly" "" "true" + "holoprosencephaly-hypokinesia-congenital contractures syndrome" "Holoprosencephaly-hypokinesia syndrome is an extremely rare and fatal central nervous system malformation occurring during embryogenesis, presenting prenatally with holoprosencephaly and fetal hypokinesia as major features. Other manifestations include microcephaly, multiple contractures and intrauterine growth restriction. An X-linked recessive inheritance has been suggested." "" + "hydrocephaly-cerebellar agenesis syndrome" "This syndrome is characterised by infantile hypotonia followed by onset of ataxia, cataract and intellectual deficit by preschool age. Cerebral atrophy was also reported." "" + "inborn disorder of glycerol metabolism" "An acquired metabolic disease that is has its basis in the disruption of glycerol metabolic process." "" + "X-linked congenital generalized hypertrichosis" "X-linked congenital generalized hypertrichosis is an extremely rare type of hypertrichosis lanuginosa congenita, a congenital skin disease, which is characterized by hair overgrowth on the entire body in males, and mild and asymmetric hair overgrowth in females. It is associated with a mild facial dysmorphism (anterverted nostrils, moderate prognathism), and, in a kindred, it was also associated with dental anomalies and deafness." "" + "isolated growth hormone deficiency type III" "" + "obsolete hypogonadism, male" "" "true" + "male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome" "This syndrome is characterized by hypergonadotropic hypogonadism, intellectual deficit, congenital skeletal anomalies involving the cervical spine and superior ribs, and diabetes mellitus." "" + "familial isolated hypoparathyroidism due to agenesis of parathyroid gland" "Hypoparathyroidism in which the inheritance is recessive and linked to the q26-q27 region of the X chromosome. The parathyroid glands are usually incompletely developed (parathyroid dysgenesis) or absent (parathyroid agenesis)." "" + "X-linked dominant hypophosphatemic rickets" "X-linked hypophosphatemia (XLH) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia, and diminished growth." "" + "X-linked dominant disease" "X-linked dominant form of disease." "" + "hypouricemia, familial renal, due to tubular hypersecretion" "" + "CHILD syndrome" "CHILD syndrome (Congenital Hemidysplasia with Ichthyosiform nevus and Limb Defects, CS) is an X-linked dominant genodermatosis characterized by unilateral inflammatory and scaling skin lesions with ipsilateral visceral and limb anomalies." "" + "X-linked ichthyosis syndrome" "X-linked form of inherited ichthyosis syndromic form." "" + "ichthyosis" "Disorders of cornification that are characterized by visible scaling and/or hyperkeratosis of most or all of the skin. Inherited ichthyoses, defined as the generalized form of Mendelian disorders of cornification, affect most or all of the skin. This etiologically and phenotypically heterogenous group of conditions is caused by mutations in various different genes important for keratinocyte differentiation and epidermal barrier function. Acquired forms of ichthyosis can be observed with certain autoimmune, inflammatory, metabolic, endocrine, or infectious diseases or with malignancies." "" + "sterol metabolism disorder" "An acquired metabolic disease that is has its basis in the disruption of sterol metabolic process." "" + "ichthyosis and male hypogonadism" "" + "obsolete IFAP/BRESHECK syndrome" "" "true" + "immunodeficiency, X-linked, with deficiency of 115,000 Dalton surface glycoprotein" "" + "hyper-IgM syndrome type 1" "Hyper IgM Syndrome Type 1 (HIGM-1) is the X-linked variant of the Hyper-IgM syndrome. The affected individuals are virtually always male, because males only have one X chromosome, received from their mothers. Their mothers are not symptomatic, even though they are carriers of the allele, because the trait is recessive. Male offspring of these women have a 50% chance of inheriting their mother's mutant allele." "" + "hyper-IgM syndrome with susceptibility to opportunistic infections" "" + "lymphoproliferative syndrome" "A disorder characterized by proliferation of lymphocytes at various stages of differentiation. Lymphoproliferative disorders can be neoplastic (clonal, as in lymphomas and leukemias) or reactive (polyclonal, as in infectious mononucleosis)." "" + "immunoglobulin M, level of" "" + "impacted teeth, multiple" "" + "imprinting gene related to retinoblastoma" "" + "incontinentia pigmenti" "Incontinentia pigmenti (IP) is a rare X-linked dominant multi-systemic ectodermal dysplasia usually lethal in males and presenting neonatally in females with a bullous rash along Blashko's lines (BL) followed by verrucous plaques evolving over time to hyperpigmented swirling patterns. It is further characterized by teeth abnormalities, alopecia, nail dystrophy and affects occasionally the retina and the central nervous system (CNS)." "" + "precancerous lesion of palpebral epidermis" "A precancerous condition that involves the skin of eyelid." "" + "developmental and epileptic encephalopathy, 1" "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the ARX gene." "" + "iris hypoplasia with glaucoma" "" + "jaundice, familial obstructive, of infancy" "" + "hypogonadotropic hypogonadism 1 with or without anosmia" "The X-linked inherited form of Kallmann syndrome caused by mutation of the KAL1 gene mapped to chromosome Xp22.3." "" + "Kallmann syndrome with spastic paraplegia" "" + "keratosis follicularis spinulosa decalvans, X-linked" "" + "keratosis follicularis-dwarfism-cerebral atrophy syndrome" "Keratosis follicularis-dwarfism-cerebral atrophy syndrome is characterized by generalized keratosis follicularis, severe proportionate dwarfism and cerebral atrophy. It has been described in six males from one family (three boys and three maternal uncles). Generalized alopecia and microcephaly were also present." "" + "Leber optic atrophy, susceptibility to" "" + "Leber hereditary optic neuropathy" "Leber's hereditary optic neuropathy (LHON) is a mitochondrial neurodegenerative disease affecting the optic nerve and often characterized by sudden vision loss in young adult carriers." "" + "Lesch-Nyhan phenotype with normal HGPRT" "" + "proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis" "" + "renal disease with cataract" "True" + "macular dystrophy, X-linked" "" + "spermatogenic failure, X-linked, 2" "Any azoospermia in which the cause of the disease is a mutation in the TEX11 gene." "" + "major affective disorder 2" "" + "isolated congenital megalocornea" "Isolated congenital megalocornea is a genetic, non-syndromic developmental defect of the anterior eye segment characterized by bilateral enlargement of the corneal diameter (>12.5 mm) and a deep anterior eye chamber, without an elevation in intraocular pressure. It can manifest with mild to moderate myopia as well as photophobia and iridodonesis (due to iris hypoplasia). Associated complications include lens dislocation, retinal detachment, presenile cataract development, and secondary glaucoma." "" + "corneogoniodysgenesis" "" + "Melnick-Needles syndrome" "Melnick-Needles syndrome (MNS) belongs to the otopalatodigital syndrome spectrum disorder and is associated with a short stature, facial dysmorphism, osseous abnormalities involving the majority of the axial and appendicular skeleton resulting in impaired speech and masticatory problems." "" + "Menkes disease" "Menkes disease (MD) is a usually severe multisystemic disorder of copper metabolism, characterized by progressive neurodegeneration and marked connective tissue anomalies as well as typical sparse abnormal steely hair." "" + "X-linked intellectual disability-seizures-psoriasis syndrome" "X-linked intellectual disability-seizures-psoriasis syndrome has been described in four male cousins. The mode of inheritance is thought to be X-linked recessive." "" + "Renpenning syndrome" "Renpenning syndrome is an X-linked intellectual disability syndrome (XLMR) characterized by intellectual deficiency, microcephaly, leanness and mild short stature." "" + "Partington syndrome" "A rare neurological condition that is primarily characterized by mild to moderate intellectual disability and dystonia of the hands. Other signs and symptoms may include dysarthria, behavioral abnormalities, recurrent seizures and/or an unusual gait (style of walking). Partington syndrome usually occurs in males; when it occurs in females, the signs and symptoms are often less severe. It is caused by changes (mutations) in the ARX gene and is inherited in an X-linked recessive manner. Treatment is based on the signs and symptoms present in each person." "" + "ARX-related epileptic encephalopathy" "" + "X-linked intellectual disability with marfanoid habitus" "The Lujan-Fryns syndrome or X-linked mental retardation (XLMR) with marfanoid habitus syndrome is a syndromic X-linked form of intellectual disability, associated with tall, marfanoid stature, distinct facial dysmorphism and behavioral problems." "" + "intellectual disability, X-linked 1" "An X-linked dominant condition caused by mutation(s) in the IQSEC2 gene, encoding IQ motif and SEC7 domain-containing protein 2. It is characterized by substantially impaired intellectual functioning and behavioral abnormalities." "" + "methylmalonic acidemia with homocystinuria, type cblX" "" + "syndromic X-linked intellectual disability 12" "X-linked intellectual disability, Wilson type is characterised by severe intellectual deficit with mutism, epilepsy, growth retardation and recurrent infections. It has been described in three males from three generations of one family. The causative gene has been localised to the 11p region of the X chromosome." "" + "FRAXE intellectual disability" "FRAXE is a form of nonsyndromic X-linked mental retardation (NS-XLMR) characterized by mild intellectual deficit. FRAXE is the most common form of NS-XLMR." "" + "intellectual disability, X-linked 9" "Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the FTSJ1 gene." "" + "severe X-linked intellectual disability, Gustavson type" "Severe X-linked intellectual disability, Gustavson type is characterised by X-linked mental retardation, microcephaly, optical atrophy with impaired vision or blindness, a severe hearing defect, facial dysmorphology, spasticity, epileptic seizures and restricted joint movement. It has been described in seven children from two generations of a Swedish family. All patients died in during early childhood." "" + "paraplegia-intellectual disability-hyperkeratosis syndrome" "Paraplegia-intellectual disability-hyperkeratosis syndrome is characterized by intellectual deficit, spasticity in the lower limbs (spastic paraplegia), pes cavus deformity of both feet, an abnormal gait, and palmar and plantar hyperkeratosis. It has been reported in four brothers. The mother of the affected boys had normal intelligence, plantar hyperkeratosis and a strong facial resemblance to her retarded sons. Her three daughters were normal. This syndrome most likely an X-linked recessive condition." "" + "X-linked intellectual disability-hypotonic face syndrome" "Mental retardation-hypotonic facies covers a group of X-linked syndromes characterized by severe intellectual deficit and facial dysmorphism, with variable other features." "" + "syndromic X-linked intellectual disability Snyder type" "Snyder-Robinson syndrome (SRS) is an X-linked intellectual disability syndrome, including also hypotonia, an unsteady gait, osteoporosis, kyphoscoliosis and facial asymmetry. Severe generalized psychomotor evolving to moderate to profound global intellectual disability is also observed." "" + "Wilson-Turner syndrome" "Wilson-Turner syndrome (WTS) is a very rare X-linked multisystem genetic disease characterized by intellectual disability, truncal obesity, gynecomastia, hypogonadism, dysmorphic facial features, and short stature." "" + "obsolete Miles-Carpenter syndrome" "" "true" + "Prieto syndrome" "This syndrome is characterised by intellectual deficit associated with facial dysmorphism, patella luxation, and abnormal growth of the teeth." "" + "skeletal dysplasia-intellectual disability syndrome" "Skeletal dysplasia-intellectual disability syndrome combines skeletal anomalies (short stature, ridging of the metopic suture, fusion of cervical vertebrae, thoracic hemivertebrae, scoliosis, sacral hypoplasia and short middle phalanges) and mild intellectual deficit. It has been described in four male cousins in three sibships. Glucose intolerance was present in three cases, and imperforated anus in one case. Carrier females had minor manifestations (fusion of cervical vertebrae and glucose intolerance). Transmission seems to be X-linked." "" + "syndactyly type 8" "Syndactyly type 8 is a rare, genetic, non-syndromic, congenital limb malformation characterized by unilateral or bilateral fusion of the fourth and fifth metacarpals with no other associated abnomalities. Patients present shortened fourth and fifth metacarpals with excessive separation between their distal ends, resulting in marked ulnar deviation of the little finger and an inability to bring the fifth finger in parallel with the other fingers." "" + "X-linked intellectual disability-spastic quadriparesis syndrome" "" + "microphthalmia, syndromic 1" "" + "modifier, X-linked, for Neurofunctional defects" "" + "mucopolysaccharidosis type 2" "A lysosomal storage disease leading to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive coarse facial features, short stature, cardio-respiratory involvement and skeletal abnormalities. It manifests as a continuum varying from a severe to an attenuated form without neuronal involvement." "True" + "muscular dystrophy, cardiac type" "" + "muscular dystrophy, Hemizygous lethal type" "" + "muscular dystrophy, Mabry type" "" + "muscular dystrophy, progressive Pectorodorsal" "" + "Duchenne muscular dystrophy" "Duchenne muscular dystrophy (DMD) is a neuromuscular disease characterized by rapidly progressive muscle weakness and wasting due to degeneration of skeletal, smooth and cardiac muscle." "" + "X-linked Emery-Dreifuss muscular dystrophy" "X-linked form of Emery-Dreifuss muscular dystrophy." "" + "qualitative or quantitative defects of emerin" "" + "myelolymphatic insufficiency" "" + "myoclonic epilepsy, progressive, X-linked" "" + "qualitative or quantitative defects of myotubularin" "" + "X-linked myopathy with excessive autophagy" "X-linked myopathy with excessive autophagy is a childhood-onset X-linked myopathy characterised by slow progression of muscle weakness and unique histopathological findings." "" + "myopia 1, X-linked" "" + "N syndrome" "N syndrome is characterised by intellectual deficit, deafness, ocular anomalies, T-cell leukaemia, cryptorchidism, hypospadias and spasticity." "" + "nephrolithiasis, X-linked recessive, with renal failure" "" + "hereditary sensory neuropathy X-linked" "A hereditary sensory neuropathy characterized by X-linked inheritance of slowly progressing neuropathy with onset in the first or second decade of life." "" + "Charcot-Marie-Tooth disease X-linked recessive 4" "X-linked Charcot-Marie-Tooth disease type 4 is a rare, genetic, axonal, peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the neonatal- to early childhood-onset of severe, slowly progressive, distal muscle weakness and atrophy (in particular of the peroneal group), as well as sensory impairment (with the lower extremities being more affected than the upper extremities), pes cavus, areflexia and hammertoes. Sensorineural hearing loss and cognitive impairment may also be associated. Females are asymptomatic and do not display the phenotype." "" + "congenital stationary night blindness 1A" "Any congenital stationary night blindness in which the cause of the disease is a mutation in the NYX gene." "" + "Norrie disease" "Norrie disease (ND) is a rare X-linked genetic vitreoretinal condition characterized by abnormal retinal development with congenital blindness. Common associated manifestations include sensorineural hearing loss and developmental delay, intellectual disability and/or behavioral disorders." "" + "nuclear ribonucleic acid" "" + "nystagmus 1, congenital, X-linked" "Any congenital nystagmus in which the cause of the disease is a mutation in the FRMD7 gene." "" + "nystagmus, myoclonic" "" + "occipital hair, white lock of" "" + "omphalocele, X-linked" "" + "ophthalmoplegia, external, and myopia" "" + "optic atrophy 2" "Early-onset X-linked optic atrophy is a rare form of hereditary optic atrophy, seen in only 4 families to date, with an onset in early childhood, characterized by progressive loss of visual acuity, significant optic nerve pallor and occasionally additional neurological manifestations, with females being unaffected." "" + "optic atrophy--spastic paraplegia syndrome" "" + "obsolete opticoacoustic nerve atrophy with dementia" "" "true" + "orofaciodigital syndrome I" "Oral-facial-digital syndrome type 1 (OFD1) is a rare neurodevelopmental disorder in the ciliopathy group that is lethal in males and characterized by variable anomalies including external malformations (craniofacial and digital), and possible involvement of the central nervous system (CNS) and of viscera (kidneys, pancreas and ovaries) in females." "" + "ornithine carbamoyltransferase deficiency" "Ornithine transcarbamylase deficiency (OTCD) is a disorder of urea cycle metabolism and ammonia detoxification characterized by either a severe, neonatal-onset disease found almost exclusively in males, or later-onset (partial) forms of the disease. Both present with episodes of hyperammonemia that can be fatal and which can lead to neurological complications." "" + "otopalatodigital syndrome type 1" "Otopalatodigital syndrome type 1 (OPD1) is the mildest form of otopalatodigital syndrome spectrum disorder, and is characterized by a generalized skeletal dysplasia, mild intellectual disability, conductive hearing loss, and typical facial anomalies." "" + "ouabain resistance" "" + "premature ovarian failure 1" "Any primary ovarian failure in which the cause of the disease is a mutation in the FMR1 gene." "" + "Paine syndrome" "" + "Pallister-W syndrome" "W syndrome is characterised by intellectual deficit, epileptic seizures and facial dysmorphism. Skeletal anomalies are also often present. To date, it has been described in six male patients. The mode of transmission appears to be X-linked dominant." "" + "early-onset parkinsonism-intellectual disability syndrome" "Early-onset parkinsonism with intellectual deficit is a basal ganglia disorder characterised by parkinsonian-type symptoms (postural changes, tremor, rigidity), megalencephaly and variable intellectual deficit. Other signs are frontal bossing, persistent frontal lobe reflexes, strabismus and seizures. It has been described in three generations of one family. Transmission is X-linked, and the gene is located on chromosomal region Xq27.3-qter." "" + "Pierre Robin syndrome-faciodigital anomaly syndrome" "This syndrome is characterised by the association of Pierre Robin sequence (retrognathia, cleft palate and glossoptosis) with facial dysmorphism (high forehead with frontal bossing) and digital anomalies (tapering fingers, hyperconvex nails, clinodactyly of the fifth fingers and short distal phalanges, finger-like thumbs and easily subluxated first metacarpophalangeal joints).Growth and mental development were normal." "" + "TARP syndrome" "A rare developmental defect during embryogenesis syndrome characterized by Robin sequence (micrognathia, glossoptosis, and cleft palate), atrial septal defect, persistence of the left superior vena cava, and talipes equinovarus. The phenotype is variable, some patients present with further dysmorphic characteristics (e.g. hypertelorism, ear abnormalities) while others do not have any key findings. Additional features, such as syndactyly, polydactyly, or brain anomalies (e.g. cerebellar hypoplasia), have also been reported. The syndrome is almost invariably lethal with affected males either dying prenatally or living just a few months." "" + "panhypopituitarism, X-linked" "" + "properdin deficiency, X-linked" "Properdin deficiency is a rare, hereditary, primary immunodeficiency due to a complement cascade protein anomaly characterized by significantly increased susceptibility to Neisseria species infections. It only affects males, typically presenting with severe or fulminant meningococcal disease." "" + "obsolete pseudohermaphroditism, incomplete male, type 1" "" "true" + "X-linked lethal multiple pterygium syndrome" "X-linked form of lethal multiple pterygium syndrome." "" + "pyruvate dehydrogenase E1-alpha deficiency" "Pyruvate dehydrogenase E1-alpha deficiency is the most frequent form of pyruvate dehydrogenase deficiency (PDHD) characterized by variable lactic acidosis, impaired psychomotor development, hypotonia and neurological dysfunction." "" + "absent radius-anogenital anomalies syndrome" "Absent radius-anogenital anomalies syndrome is a rare, genetic limb reduction defects syndrome characterized by bilateral radial aplasia/hypoplasia manifesting with absent/short forearms in association with anogenital abnormalities (e.g. hypospadias or imperforate anus). Additional features reported include hydrocephalus and absent preaxial digits. There have been no further descriptions in the literature since 1993." "" + "radiation sensitivity of natural killer activity" "" + "partial androgen insensitivity syndrome" "Partial androgen insensitivity syndrome (PAIS) is a disorder of sex development (DSD) distinct from complete AIS (CAIS) characterized by the presence of abnormal genital development in a 46,XY individual with normal testis development and partial responsiveness to age-appropriate levels of androgens." "" + "androgen insensitivity syndrome" "Androgen insensitivity syndrome (AIS) is a disorder of sex development (DSD) characterized by the presence of female external genitalia, ambiguous genitalia or variable defects in virilization in a 46,XY individual with absent or partial responsiveness to age-appropriate levels of androgens. It comprises two clinical subgroups: complete AIS (CAIS) and partial AIS (PAIS)." "" + "reticuloendotheliosis, X-linked" "" + "X-linked retinal dysplasia" "" + "retinitis pigmentosa 2" "Any retinitis pigmentosa in which the cause of the disease is a mutation in the RP2 gene." "" + "RP2 retinopathy" "A retinopathy caused by variants in the X-linked gene, RP2." "" + "obsolete RP6" "" "true" + "X-linked retinoschisis" "A genetic ocular disease that is characterized by reduced visual acuity in males due to juvenile macular degeneration." "" + "Rett syndrome" "Rett syndrome (RTT) is a severe neurodevelopmental disorder affecting the central nervous system." "" + "Russell-silver syndrome, X-linked" "" + "SCARF syndrome" "SCARF syndrome is characterised by the association of skeletal abnormalities, cutis laxa, craniostenosis, ambiguous genitalia, psychomotor retardation and facial abnormalities. So far, it has been described in two males (maternal first cousins). The mode of inheritance was suggested to be X-linked recessive." "" + "X-linked intellectual disability, Schimke type" "X-linked mental retardation, Schimke type, is characterised by intellectual deficit, growth retardation with short stature, deafness and ophthalmoplegia. Choreoathetosis with muscle spasticity generally appears during childhood. It has been described in four boys, three of whom were from the same family. Transmission is X-linked." "" + "combined immunodeficiency, X-linked" "" + "spastic paraparesis-deafness syndrome" "Spastic paraparesis-deafness syndrome is a chronic neurodegenerative disorder characterised by spastic paraparesis (beginning at about 10 years of age) and hearing deficits." "" + "hereditary spastic paraplegia 2" "Spastic paraplegia type 2 (SPG2) is an X-linked leukodystrophy characterized primarily by spastic gait and autonomic dysfunction. When additional central nervous system (CNS) signs, such as intellectual deficit, ataxia, or extrapyramidal signs, are present, the syndrome is referred to as complicated SPG." "" + "spatial visualization, aptitude for" "" + "Kennedy disease" "Kennedy's disease, also known as bulbospinal muscular atrophy (BSMA), is a rare X-linked recessive motor neuron disease characterized by proximal and bulbar muscle wasting." "" + "bulbospinal muscular atrophy of adulthood" "A bulbospinal muscular atrophy that occurs in an adult." "" + "split hand-foot malformation 2" "A split-hand/foot malformation that has material basis in variation in the chromosome region Xq26." "" + "spondyloepiphyseal dysplasia tarda, X-linked" "X-linked spondyloepiphyseal dysplasia tarda is an inherited skeletal disorder that affects males only. Physical characteristics include moderate short-stature (dwarfism); moderate to severe spinal deformities; barrel-chest; disproportionately short trunk and neck;disproportionatelylong arms,and premature osteoarthritis, especially in the hip joints. Final male adult height ranges from 4 feet 10 inches to 5 feet 6 inches. Other skeletal features of this condition include decreased mobility of the elbow and hip joints, arthritis, and abnormalities of the hip joint which causes the upper leg bones to turn inward. This condition is caused by mutations in the TRAPPC2 gene and is inherited in an X-linked recessive pattern." "" + "spondylometaphyseal dysplasia, Golden type" "Spondylometaphyseal dysplasia, Golden type is a rare primary bone dysplasia disorder characterized by severe short stature, coarse facies, thoracolumbar kyphoscoliosis and enlarged joints with contractures. Psychomotor delay and intellectual disability may also be associated. Radiographic features include flat vertebral bodies, lacy ossification of the metaphyses of long bones and iliac crests, and marked sclerosis of the skull base." "" + "Taqi polymorphism" "" + "taurodontism, microdontia, and dens invaginatus" "" + "tooth agenesis, selective, X-linked, 1" "Any tooth agenesis in which the cause of the disease is a mutation in the EDA gene." "" + "pentalogy of Cantrell" "Pentalogy of Cantrell (POC) is a lethal multiple congenital anomalies syndrome, characterized by the presence of 5 major malformations: midline supraumbilical abdominal wall defect, lower sternal defect, diaphragmatic pericardial defect, anterior diaphragmatic defect and various intracardiac malformations. Ectopia cordis (EC) is often found in fetuses with POC." "" + "thrombocytopenia 1" "" + "hereditary thrombocytopenia with normal platelets" "" + "thrombocytopenia with elevated serum IgA and renal disease" "" + "beta-thalassemia-X-linked thrombocytopenia syndrome" "Beta-thalassemia - X-linked thrombocytopenia is a form of beta-thalassemia characterized by splenomegaly and petechiae, moderate thrombocytopenia, prolonged bleeding time due to platelet dysfunction, reticulocytosis and mild beta-thalassemia." "" + "beta-thalassemia with other manifestations" "Beta-thalassemias with other manifestations are a group of beta-thalassemias associated with another disorder." "True" + "thumbs, congenital Clasped" "" + "X-linked dystonia-parkinsonism" "X-linked dystonia-parkinsonism (XDP) is a neurodegenerative movement disorder characterized by adult-onset parkinsonism that is frequently accompanied by focal dystonia, which becomes generalized over time, and that has a highly variable clinical course." "" + "torticollis-keloids-cryptorchidism-renal dysplasia syndrome" "Torticollis-keloids-cryptorchidism-renal dysplasia syndrome is an extremely rare developmental defect during embryogenesis malformation syndrome characterized by congenital muscular torticollis associated with skin anomalies (such as multiple keloids, pigmented nevi, epithelioma), urogenital malformations (including cryptorchidism and hypospadias) and renal dysplasia (e.g. chronic pyelonephritis, renal atrophy). Additional reported features include varicose veins, intellectual disability and musculoskeletal anomalies." "" + "trigonocephaly-short stature-developmental delay syndrome" "Trigonocephaly-short stature-developmental delay syndrome is characterised by short stature, trigonocephaly and developmental delay. It has been described in three males. Moderate intellectual deficit was reported in one of the males and the other two patients displayed psychomotor retardation. X-linked transmission has been suggested but autosomal recessive inheritance can not be ruled out." "" + "ulnar hypoplasia-split foot syndrome" "Ulnar hypoplasia-split foot syndrome is characterised by the association of severe ulnar hypoplasia, absence of fingers two to five, and split-foot. It has been described in four males belonging to two generations of the same family. X-linked recessive inheritance is suggested, but autosomal dominant transmission cannot be excluded." "" + "unique green phenomenon" "" + "VACTERL association, X-linked, with or without hydrocephalus" "" + "cardiac valvular dysplasia, X-linked" "" + "van den Bosch syndrome" "Van den Bosch syndrome is characterized by intellectual deficit, choroideremia, acrokeratosis verruciformis, anhidrosis, and skeletal deformities. It has been observed in a single kindred. The syndrome is transmitted as an X-linked recessive trait and may be caused by a small X-chromosome deletion." "" + "vesicoureteral reflux, X-linked" "" + "Von Willebrand disease, X-linked form" "" + "widow's peak syndrome" "" + "Wieacker-Wolff syndrome" "A severe X-linked recessive neurodevelopmental disorder characterized by severe contractures (arthrogryposis) and intellectual disability." "" + "Wieacker-Wolff syndrome (spectrum)" "" + "Wildervanck syndrome" "Wildervanck syndrome is characterized by the triad of cervical vertebral fusion (Klippel-Feil anomaly), bilateral abducens palsy with retracted eyes (Duane syndrome) and congenital perceptive deafness." "" + "XH antigen" "" + "retinitis pigmentosa Y-linked" "Y-linked form of retinitis pigmentosa." "" + "lymphoma, Hodgkin, Y-linked pseudoautosomal" "" + "spermatogenic failure, Y-linked, 1" "" + "partial chromosome Y deletion" "Male sterility due to chromosome Y deletion is characterized by a severe deficiency of spermatogenesis. Chromosome Y deletions are a frequent genetic cause of male infertility." "" + "hearing loss, Y-linked 1" "" + "nonsyndromic deafness, Y-linked" "" + "46,XY disorder of gonadal development" "" + "obsolete 46,XX sex reversal 1" "" "true" + "spermatogenic failure, Y-linked, 2" "" + "hairy ears, Y-linked" "" + "ubiquitin-activating enzyme, Y-linked" "" + "Leber optic atrophy and dystonia" "" + "myopathy and diabetes mellitus" "" + "maternally-inherited mitochondrial myopathy" "" + "striatonigral degeneration, infantile, mitochondrial" "" + "retinitis pigmentosa-deafness syndrome" "An Usher syndrome characterized by retinitis pigmentosa and onset of sensorineural hearing impairment in the teens that has material basis in mutation in the MTTS2 gene in the mitochondrial genome." "" + "hypomagnesemia, hypertension, and hypercholesterolemia, mitochondrial" "" + "cardiomyopathy, infantile hypertrophic" "" + "cyclic vomiting syndrome" "A rare abnormality of the neuroendocrine system that is characterized by episodic nausea and vomiting." "" + "prelingual non-syndromic genetic hearing loss" "Prelingual non-syndromic genetic deafness is a rare, genetically highly heterogeneous otorhinolaryngologic disease, resulting from inner and/or middle ear or hearing nerve anomalies, typically characterized by bilateral, severe to profound hearing loss (mean sensorineural hearing impairment of 60 dB or more for 500-, 1,000-, and 2,000-Hz frequency tones in the better ear) which occurs before the onset of speech development and is not associated with visible external ear abnormalities or any other medical problems. It is usually nonprogressive and impedes oral language acquisition." "" + "postlingual non-syndromic genetic hearing loss" "Postlingual non-syndromic genetic deafness is a rare, genetically highly heterogeneous otorhinolaryngologic disease, resulting from inner and/or middle ear or hearing nerve anomalies, typically characterized by progressive, bilateral, moderate to profound hearing loss (mean sensorineural hearing impairment equal to 40 dB or more for 500-, 1,000-, and 2,000-Hz frequency tones in the better ear) which occurs after the onset of speech development and is not associated with visible external ear abnormalities or any other medical problems. Language development is not initially significantly delayed." "" + "mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA" "True" + "mitochondrial myopathy with reversible cytochrome C oxidase deficiency" "" + "ataxia and polyneuropathy, adult-onset" "" + "myopathy, lactic acidosis, and sideroblastic anemia 3" "" + "Alzheimer disease, susceptibility to, mitochondrial" "" + "chloramphenicol toxicity" "" + "maternally-inherited diabetes and deafness" "Maternally inherited diabetes and deafness (MIDD) is a mitochondrial disorder characterized by maternally transmitted diabetes and sensorineural deafness." "" + "chronic diarrhea with villous atrophy" "Chronic diarrhea with villous atrophy is a rare, genetic gastroenterological disease characterized by the early onset of chronic diarrhea, vomiting, anorexia, lactic acidosis, renal insuficiency and hepatic involvement (mild elevation of liver enzymes, steatosis, hepatomegaly). Partial villous atrophy (with eosinophilic infiltration) is observed on intestinal biopsy. Although diarrhea may resolve, the development of neurologic symptoms (cerebellar ataxia, sensorineural deafness, seizures), retinitis pigmentosa and muscle weakness may complicate disease course and lead to death. There have been no further descriptions in the literature since 1994." "" + "mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA" "True" + "Kearns-Sayre syndrome" "Kearns-Sayre syndrome (KSS) is a mitochondrial disease characterized by progressive external ophthalmoplegia (PEO), pigmentary retinitis and an onset before the age of 20 years. Common additional features include deafness, cerebellar ataxia and heart block." "" + "MELAS syndrome" "MELAS (Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke) syndrome is a rare progressive multisystemic disorder characterized by encephalomyopathy, lactic acidosis, and stroke-like episodes. Other features include endocrinopathy, heart disease, diabetes, hearing loss, and neurological and psychiatric manifestations." "" + "MERRF syndrome" "A condition that can be caused by mutation(s) in more than one mitochondrial gene. It is characterized by myoclonic epilepsy and ragged-red fibers present on muscle biopsy." "" + "myoglobinuria, recurrent" "An inborn error of metabolism characterized by abnormal urinary excretion of myoglobin due to acute destruction of skeletal muscle fibers. The exact prevalence remains unknown. In the majority of cases, the disease manifests in childhood and is often triggered by exertion or infection (febrile illness). Hypertonia, muscle stiffness and muscle pain, impaired kidney function and elevated levels of serum creatine kinase are common clinical features. Mutations in the mitochondrial DNA-encoded cytochrome C oxidase genes (MT-CO1 and MT-CO2) should be considered in patients with recurrent myoglobinuria. Recently, mutations in the LPIN1 gene (chromosome 2p21) have been reported to have a causative role in three patients with recurrent episodes of myoglobinuria, originating from consanguineous families. The disorder may occur sporadically, or be inherited in either a recessive or dominant manner." "" + "lethal infantile mitochondrial myopathy" "Lethal infantile mitochondrial myopathy is a rare mitochondrial oxidative phosphorylation disorder characterized by progressive generalized hypotonia, progressive external ophthalmoplegia and severe lactic acidosis, which results in early fatality (days to months after birth). Patients may present with lethargy and areflexia and may associate additional features, such as cardiomyopathy, renal dysfunction, liver involvement and seizures." "" + "nephropathy, chronic tubulointerstitial" "" + "NARP syndrome" "Neuropathy, Ataxia, and Retinitis Pigmentosa (NARP) syndrome is a clinically heterogeneous progressive condition characterized by a combination of proximal neurogenic muscle weakness, sensory-motor neuropathy, ataxia, and pigmentary retinopathy." "" + "Parkinson disease, mitochondrial" "" + "Pearson syndrome" "Pearson syndrome is characterized by refractory sideroblastic anemia, vacuolization of bone marrow precursors and exocrine pancreatic dysfunction." "" + "proximal tubulopathy-diabetes mellitus-cerebellar ataxia syndrome" "Proximal tubulopathy-diabetes mellitus-cerebellar ataxia syndrome is characterised by onset of proximal tubulopathy in the first year of life, followed by progressive development during childhood of skin anomalies (erythrocyanosis and abnormal pigmentation), blindness, osteoporosis, cerebellar ataxia, mitochondrial myopathy, deafness and diabetes mellitus." "" + "mitochondrial oxidative phosphorylation disorder due to a duplication of mitochondrial DNA" "True" + "aminoglycoside-induced hearing loss" "" + "Wolfram syndrome, mitochondrial form" "" + "spondylocamptodactyly syndrome" "Spondylo-camptodactyly syndrome is characterized by camptodactyly, flattened cervical vertebral bodies and variable degrees of thoracic scoliosis." "" + "pancreatic hypoplasia-diabetes-congenital heart disease syndrome" "Pancreatic hypoplasia-diabetes-congenital heart disease syndrome is characterized by partial pancreatic agenesis, diabetes mellitus, and heart anomalies (including transposition of the great vessels, ventricular or atrial septal defects, pulmonary stenosis, or patent ductus arteriosis)." "" + "Eiken syndrome" "Eiken syndrome is a rare familial skeletal dysplasia characterized by multiple epiphyseal dysplasia, with extremely retarded ossification. It has been described in 6 members of a unique consanguineous family." "" + "obsolete BRCATA" "" "true" + "bladder exstrophy" "Bladder exstrophy (or classic bladder exstrophy; CEB) is a congenital genitourinary malformation belonging to the spectrum of the exstrophy-epispadias complex (EEC) and is characterized by an evaginated bladder plate, epispadias and an anterior defect of the pelvis, pelvic floor and abdominal wall." "" + "retinitis pigmentosa 13" "Any retinitis pigmentosa in which the cause of the disease is a mutation in the PRPF8 gene." "" + "autosomal recessive nonsyndromic hearing loss 2" "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the MYO7A gene." "" + "fatal familial insomnia" "Fatal familial insomnia (FFI) is a very rare form of prion disease characterized by subacute onset of insomnia showing as a reduced overall sleep time, autonomic dysfunction, and motor disturbances." "" + "familial chronic myelocytic leukemia-like syndrome" "A chronic myeloid leukemia characterized by chronic myelocytic leukemia in early infancy and absence of the BCR/ABL fusion gene (Philadelphia chromosome)." "" + "vitamin D hydroxylation-deficient rickets, type 1B" "An autosomal recessive form of rickets caused by inactivating mutation(s) in the CYP2R1 gene, encoding vitamin D 25-hydroxylase, the hepatic enzyme that converts vitamin D to 25-hydroxyvitamin D, the precursor of 1,25-dihydroxyvitamin D (calcitriol). The condition is characterized by reduced serum concentrations of 25-hydroxyvitamin D, hypophosphatemia, hypocalcemia with secondary hyperparathyroidism and elevated serum alkaline phosphatase, and by failure to thrive, seizures, muscle weakness, and rickets." "" + "macrocytosis, familial" "" + "pancreatic beta cell agenesis with neonatal diabetes mellitus" "" + "chondrodysplasia-pseudohermaphroditism syndrome" "Chondrodysplasia - disorder of sex development is an extremely rare disorder of sex development, reported in only two siblings (one terminated in pregnancy) to date, characterized by the clinical features of 46,XY complete gonadal dysgenesis (normal external female genitalia, lack of pubertal development, primary amenorrhea, and hypergonadotrophic hypogonadism) in association with severe dwarfism with generalized chondrodysplasia (bell-shaped thorax, micromelia, brachydactyly). Other reported features in the live sibling included eye anomalies (hypoplastic irides, myopia, coloboma of optic discs), dysmorphic features (deep-set eyes, upslanting palpebral fissures, puffy eyelids, large ears and mouth, mild prognathism), muscular hypoplasia, mild intellectual deficiency and severe microcephaly with cerebellar vermis hypoplasia. An autosomal recessive inheritance has been suggested." "" + "spondyloepiphyseal dysplasia tarda with characteristic facies" "" + "Qazi Markouizos syndrome" "Qazi-Markouizos syndrome is characterised principally by non-progressive central hypotonia, chronic constipation, severe psychomotor retardation, abnormal dermatoglyphics, dysharmonic skeletal maturation and disproportionate muscle fibres. Seizures or an abnormal electroencephalograph were also reported. To date, the syndrome has been reported in three unrelated Puerto Rican boys." "" + "autosomal dominant nonsyndromic hearing loss 2A" "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the KCNQ4 gene." "" + "retinitis pigmentosa 12" "Any retinitis pigmentosa in which the cause of the disease is a mutation in the CRB1 gene." "" + "Stargardt disease 3" "" + "autosomal recessive juvenile Parkinson disease 2" "A group of disorders which feature impaired motor control characterized by bradykinesia, muscle rigidity; tremor; and postural instability. Parkinsonian diseases are generally divided into primary parkinsonism (see parkinson disease), secondary parkinsonism (see parkinson disease, secondary) and inherited forms. These conditions are associated with dysfunction of dopaminergic or closely related motor integration neuronal pathways in the basal ganglia." "" + "familial developmental dysphasia" "Familial developmental dysphasia is a severe form of developmental verbal apraxia characterized by a deficit in spontaneous speech, writing, grammatical judgment and repetition, defective articulation, moderate to severe degree of dyspraxia, a reduced use of consonant clusters, and comprehension delay. Hearing and intelligence are normal." "" + "specific language disorder" "" + "Warburg micro syndrome 1" "Any Warburg micro syndrome in which the cause of the disease is a mutation in the RAB3GAP1 gene." "" + "Warburg micro syndrome" "Micro syndrome is an autosomal recessive disorder caracterised by ocular and neurodevelopmental defects and by microgenitalia. It presents with severe intellectual disability, microcephaly, congenital cataract, microcornea, microphthalmia, agenesis/hypoplasia of the corpus callosum, and hypogenitalism." "" + "rhizomelic chondrodysplasia punctata type 3" "Any rhizomelic chondrodysplasia punctata in which the cause of the disease is a mutation in the AGPS gene." "" + "alkylglycerone-phosphate synthase deficiency" "Any disorder of plasmalogen biosynthesis in which the cause of the disease is a mutation in the AGPS gene." "" + "disorder of sex development-intellectual disability syndrome" "Verloes-Gillerot-Fryns syndrome is a rare association of malformations." "" + "atrioventricular defect-blepharophimosis-radial and anal defect syndrome" "Atrioventricular defect-blepharophimosis-radial and anal defect syndrome is a rare, genetic multiple congenital anomaly syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects." "" + "childhood absence epilepsy" "Childhood absence epilepsy (CAE) is a familial generalized pediatric epilepsy, characterized by very frequent (multiple per day) absence seizures, usually occurring in children between the ages of 4 and 10 years, with, in most cases, a good prognosis." "" + "retinitis pigmentosa 14" "Any retinitis pigmentosa in which the cause of the disease is a mutation in the TULP1 gene." "" + "retinitis pigmentosa 11" "Any retinitis pigmentosa in which the cause of the disease is a mutation in the PRPF31 gene." "" + "CARASIL syndrome" "CARASIL is a hereditary cerebral small vessel disease characterized by early-onset gait disturbances, premature scalp alopecia, ischemic stroke, acute mid to lower back pain and progressive cognitive disturbances leading to severe dementia." "" + "cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2" "Any CADASIL in which the cause of the disease is a mutation in the HTRA1 gene." "" + "HTRA1-related cerebral small vessel disease" "" + "neuronal ceroid lipofuscinosis 8" "Any neuronal ceroid lipofuscinosis in which the cause of the disease is a mutation in the CLN8 gene." "" + "familial caudal dysgenesis" "Familial caudal dysgenesis is a rare, genetic, developmental defect during embryogenesis disorder characterized by varying degrees of caudal dysgenesis, ranging from a single umbilical artery or imperforate anus to full sirenomelia, in several members of the same family. Phenotype includes lumbosacral agenesis, anal atresia or ectopia, genitourinary abnormalities, components of VATER or VACTERL association, and facial dysmorphism (flat facies, abnormal ears, bilateral epicanthic folds, depressed nasal bridge, micrognathia). Additional features reported include cardiovascular (e.g. endocardial cushion defect, hypoplasia of pulmonary artery) and skeletal (kyphosis, hemipelvis) anomalies." "" + "caudal regression-sirenomelia spectrum" "Caudal regression-sirenomelia spectrum is a group of rare genetic developmental defect during embryogenesis disorders characterized by varying degrees of caudal abdomen, pelvic, renal, anorectal, urogenital and/or lumbosacral spine malformations, with or without lower limb fusion. Phenotype is highly variable ranging from minor forms with isolated coccygeal agenesis to severe forms presenting with a single rudimentary limb. Central nervous system anomalies have also been reported." "" + "Bardet-Biedl syndrome 3" "" + "Hirschsprung disease, susceptibility to, 2" "Any Hirschsprung disease in which the cause of the disease is a mutation in the EDNRB gene." "" + "hirschsprung disease, susceptibility to, 5" "" + "pterygium colli-intellectual disability-digital anomalies syndrome" "Pterygium colli-intellectual disability-digital anomalies syndrome is characterized by pterygium colli, digital anomalies (abnormal small thumbs, widened interphalangeal joints, and broad terminal phalanges), and craniofacial abnormalities (brachycephaly, epicanthic folds, angulated eyebrows, upward slanting of the palpebral fissures, ptosis, hypertelorism, and prominent low-set, posteriorly rotated ears). It has been described in a woman and her son, but the manifestations were much less severe in the mother. The son also had intellectual deficit. The inheritance is either X-linked dominant or autosomal dominant." "" + "nanophthalmos 1" "" + "primary hyperparathyroidism" "Hyperfunction of the parathyroid glands resulting in the overproduction of parathyroid hormone. It is caused by parathyroid adenoma, parathyroid hyperplasia, parathyroid carcinoma, and multiple endocrine neoplasia. It is associated with hypercalcemia and hypophosphatemia. Signs and symptoms include weakness, fatigue, nausea, vomiting, constipation, depression, bone pain, osteoporosis, cystic bone lesions, and kidney stones." "" + "gonadal agenesis" "A congenital disorder characterized by the complete absence of gonadal tissue." "" + "autosomal dominant congenital benign spinal muscular atrophy" "Autosomal dominant congenital benign spinal muscular atrophy is a rare distal hereditary motor neuropathy, with a variable clinical phenotype, typically characterized by congenital, non-progressive, predominantly distal, lower limb muscle weakness and atrophy and congenital (or early-onset) flexion contractures of the hip, knee and ankle joints. Reduced or absent lower limb deep tendon reflexes, skeletal anomalies (bilateral talipes equinovarus, scoliosis, kyphoscoliosis, lumbar hyperlordisis), late ambulation, waddling gait, joint hyperlaxity and/or bladder and bowel dysfuntion are usually also associated." "" + "pachygyria-intellectual disability-epilepsy syndrome" "Pachygyria-intellectual disability-epilepsy syndrome is a rare, genetic neurological disorder characterized by the presence of diffuse pachygyria and arachnoid cysts, psychomotor developmental delay and intellectual disability. Seizures (absence, atonic and generalized tonic-clonic) and, on occasion, headache are also associated." "" + "Waardenburg syndrome type 2B" "" + "multiple cutaneous and mucosal venous malformations" "Mucocutaneous venous malformations (VMCMs) are hereditary vascular malformations characterized by the presence of small, multifocal, bluish-purple venous lesions involving the skin and mucosa." "" + "dyslexia, susceptibility to, 2" "" + "epiphyseal dysplasia, multiple, 2" "Any multiple epiphyseal dysplasia in which the cause of the disease is a mutation in the COL9A2 gene." "" + "multiple epiphyseal dysplasia due to collagen 9 anomaly" "Multiple epiphyseal dysplasia due to collagen 9 anomaly is a rare primary bone dysplasia disorder characterized by normal or mild short stature, early-onset pain and/or stiffness of the joints (mainly affecting knees but also elbows, wrists, ankles and fingers, with relative sparing of the hips) and early degenerative joint disease. Other skeletal anomalies (incl. varus or valgus deformities, osteochondritis dissecans, abnormal carpal shape, free articular bodies) and mild myopathy have also been reported." "" + "obsolete macrothrombocytopenia and progressive sensorineural deafness" "" "true" + "exostoses, multiple, type III" "" + "spinocerebellar ataxia type 4" "Spinocerebellar ataxia type 4 (SCA4) is a very rare progressive and untreatable subtype of type I autosomal dominant cerebellar ataxia (ADCA type I) characterized by ataxia with sensory neuropathy." "" + "spinocerebellar ataxia type 5" "Spinocerebellar ataxia type 5 (SCA5) is a rare subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by the early-onset of cerebellar signs with eye movement abnormalities and a very slow disease progression." "" + "palmoplantar keratoderma, Bothnian type" "" + "Tessier number 4 facial cleft" "" + "oblique facial cleft" "" + "oculomaxillofacial dysostosis" "Oculomaxillofacial dysostosis is a rare, genetic bone developmental disorder characterized by short stature, orbital region and ocular abnormalities (e.g. asymmetric orbits, anophthalmia, down-slanted and S-shaped palpebral fissures, sparse eyebrows/eyelashes, abnormal eyelids, ectropion, symblepharon, corneal leukoma), abnormal nose (e.g. broad and abnormally modeled nasal root, bridge and tip, lateral deviation), malar hypoplasia, cleft lip/palate, and oblique facial clefts. Intellectual disability, microcephaly, micrognathia and limb anomalies (e.g. hemimelia, abnormal scapular girdle, brachydactyly, syndactyly, broad halluces) have also been reported." "" + "Lowry-MacLean syndrome" "Lowry-MacLean syndrome is a very rare syndrome characterized by microcephaly, craniosynostosis, glaucoma, growth failure and visceral malformations." "" + "chromosome 8Q12.1-q21.2 deletion syndrome" "" + "Helicobacter pylori infection, susceptibility to" "" + "Toriello-Lacassie-Droste syndrome" "Oculo-ectodermal syndrome (OES) is characterized by the association of epibulbar dermoids and aplasia cutis congenital." "" + "short tarsus-absence of lower eyelashes syndrome" "Short tarsus - absence of lower eyelashes is a very rare syndrome characterized by the association of thin and short upper and lower tarsus and absence of the lower eyelashes." "" + "autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis" "Polycystic kidney disease with tuberous sclerosis (PKD-TSC) is characterised by early-onset and severe polycystic kidney disease with various manifestations of tuberous sclerosis (multiple angiomyolipomas, lymphangioleiomyomatosis and periventricular calcifications of the central nervous system)." "" + "semantic dementia" "Semantic dementia (SD) is a form of frontotemporal dementia (FTD), characterized by the progressive, amodal and profound loss of semantic knowledge (combination of visual associative agnosia, anomia, surface dyslexia or dysgraphia and disrupted comprehension of word meaning) and behavioral abnormalities, attributable to the degeneration of the anterior temporal lobes." "" + "progressive non-fluent aphasia" "Progressive non-fluent aphasia (PNFA) is a form of frontotemporal dementia (FTD), characterized by agrammatism, laborious speech, alexia, and agraphia, frequently accompanied by apraxia of speech (AOS). Language comprehension is relatively preserved." "" + "behavioral variant of frontotemporal dementia" "Behavioral variant of frontotemporal dementia (bv-FTD) is a form of frontotemporal dementia (FTD), characterized by progressive behavioral impairment and a decline in executive function with frontal lobe-predominant atrophy." "" + "macrocephaly-spastic paraplegia-dysmorphism syndrome" "Macrocephaly-spastic paraplegia-dysmorphism syndrome is a rare syndrome of multiple congenital anomalies characterized by macrocephaly (of post-natal onset) with large anterior fontanelle, progressive complex spastic paraplegia, dysmorphic facial features (broad and high forehead, deeply set eyes, short philtrum with thin upper lip, large mouth and prominent incisors), seizures, and intellectual deficit of varying severity. Inheritance appears to be autosomal recessive." "" + "atrioventricular septal defect 3" "Any atrioventricular septal defect in which the cause of the disease is a mutation in the GJA1 gene." "" + "atrioventricular septal defect" "A spectrum of septal defects involving the atrial septum; ventricular septum; and the atrioventricular valves (tricuspid valve; bicuspid valve). These defects are due to incomplete growth and fusion of the endocardial cushions which are important in the formation of two atrioventricular canals, site of future atrioventricular valves." "" + "autosomal recessive nonsyndromic hearing loss 3" "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the MYO15A gene." "" + "type 1 diabetes mellitus 3" "A type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 15q26." "" + "type 1 diabetes mellitus 4" "A type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 11q13." "" + "type 1 diabetes mellitus 5" "Any type 1 diabetes mellitus in which the cause of the disease is a mutation in the SUMO4 gene." "" + "type 1 diabetes mellitus 7" "A type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 2q31." "" + "pseudoaminopterin syndrome" "Pseudoaminopterin syndrome is a developmental anomalies syndrome that resembles the aminopterin embryopathy without history of fetal exposure to aminopterin. It is characterized by skull (craniosynostosis and poorly mineralized cranial vault), dysmorphic (ocular hypertelorism, palpebral fissure anomalies, micrognathia cleft lip and/or high arched palate and small and low set/rotated ears) and limb (brachydactyly, syndactyly and clinodactyly) anomalies, associated with mild-to-moderate intellectual deficit and short stature." "" + "PARC syndrome" "PARC syndrome is a rare genetic developmental defect during embryogenesis syndrome characterized by the association of congenital poikiloderma (P), generalized alopecia (A), retrognathism (R) and cleft palate (C). There have been no further descriptions in the literature since 1990." "" + "rippling muscle disease 1" "" + "inherited rippling muscle disease" "Rippling muscle disease is a rare, genetic, neuromuscular disorder characterized by muscle hyperirritability triggered by stretch, percussion or movement. Patients present wave-like, electrically-silent muscle contractions (rippling), muscle mounding, painful muscle stiffness and muscle hypertrophy, usually with elevated serum creatine kinase." "" + "motor neuron disease with dementia and ophthalmoplegia" "" + "tibial muscular dystrophy" "Tibial muscular dystrophy (TMD) is a distal myopathy characterized by weakness of the muscles of the anterior compartment of lower limbs, appearing in the fourth to seventh decade of life." "" + "autosomal dominant distal myopathy" "Autosomal dominant form of distal myopathy." "" + "qualitative or quantitative defects of titin" "" + "succinic acidemia" "" + "parotid salivary glands, polycystic dysgenetic disease of" "" + "band heterotopia of brain" "" + "enteropathy, familial, with villous edema and immunoglobulin G2 deficiency" "" + "pachydermodactyly, familial" "" + "recessive aplasia cutis congenita of limbs" "Recessive aplasia cutis congenita of limbs is an extremely rare variant of aplasia cutis congenita (ACC) characterized by the congenital absence of skin on the upper and/or lower limbs, with these lesions usually healing spontaneously resulting in a hypotrichotic scar. Recessive ACC of limbs may be associated with junctional epidermolysis bullosa. The inheritance was hypothesized to be autosomal recessive. There have been no further descriptions in the literature since 1980." "" + "Charcot-Marie-Tooth disease type 5" "Hereditary motor and sensory neuropathy type 5 is a rare axonal hereditary motor and sensory neuropathy characterized by slowly progressive distal muscle weakness and atrophy with or without sensory loss resulting in difficulty in walking, foot drop and pes cavus, that may be associated with pyramidal signs (extensor plantar responses, mild increase in tone, brisk tendon reflexes), muscle cramps, pain and spasticity." "" + "hereditary spastic paraplegia 6" "Autosomal dominant spastic paraplegia type 6 (SPG6) is a form of hereditary spastic paraplegia which usually presents in late adolescence or early adulthood as a pure phenotype of lower limb spasticity with hyperreflexia and extensor plantar responses, as well as mild bladder disturbances and pes cavus. Rarely, it can present as a complex phenotype with additional manifestations including epilepsy, variable peripheral neuropathy and/or memory impairment." "" + "CODAS syndrome" "Codas syndrome is a multiple congenital anomalies syndrome characterized by Cerebral, Ocular, Dental, Auricular and Skeletal anomalies." "" + "telangiectasia, hereditary hemorrhagic, type 2" "Any hereditary hemorrhagic telangiectasia in which the cause of the disease is a mutation in the ACVRL1 gene." "" + "mesomelia-synostoses syndrome" "Mesomelia-Synostoses syndrome (MSS) is a syndromal osteochondrodysplasia due to a contiguous gene deletion syndrome, characterized by progressive bowing of forearms and forelegs leading to mesomelia, progressive intracarpal or intratarsal bone fusion and fusion of metacarpal bones with proximal phalanges, ptosis, hypertelorism, abnormal soft palate, congenital heart defect, and ureteral anomalies." "" + "aphalangy-syndactyly-microcephaly syndrome" "Aphalangy-syndactyly-microcephaly is an extremely rare malformation syndrome characterized by the association of partial distal aphalangia with syndactyly, duplication of metatarsal IV, microcephaly, and mild intellectual disability." "" + "pectus excavatum-macrocephaly-dysplastic nails syndrome" "Pectus excavatum-macrocephaly-dysplastic nails syndrome is a rare multiple congenital anomalies syndrome characterized by relative macrocephaly, pectus excavatum, short stature, nail dysplasia, and motor developmental delay (that resolves during childhood). There have been no further descriptions in the literature since 1992." "" + "muscular dystrophy, scapulohumeral" "" + "angiokeratoma corporis diffusum with arteriovenous fistulas" "" + "2q37 microdeletion syndrome" "Deletion 2q37 or monosomy 2q37 is a chromosomal anomaly involving deletion of chromosome band 2q37 and manifests as three major clinical findings: developmental delay, skeletal malformations and facial dysmorphism." "" + "partial deletion of the long arm of chromosome 2" "Chromosome 2q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 2. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 2q deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person." "" + "isolated anterior cervical hypertrichosis" "Anterior cervical hypertrichosis is a rare form of localised hypertrichosis characterised by hair growth near the laryngeal prominence during childhood." "" + "endometriosis of uterus" "The growth of endometrial tissue inside the muscular wall of the uterine corpus. Clinical manifestations include pain, dysmenorrhea, and menorrhagia." "" + "arterial dissection-lentiginosis syndrome" "Arterial dissection-lentiginosis is a rare association syndrome, reported in several members of two families to date, and characterized by arterial dissection, occurring at an early age and presenting with a range of manifestations depending on the vascular territory involved (ex. headache, dysphasia, hemiparesis), in association with cystic medial necrosis and multiple lentigines (brown and black in color and mainly affecting the skin of the trunk and extremities)." "" + "acrocardiofacial syndrome" "Acro-cardio-facial syndrome (ACFS) is a rare genetic disorder characterized by split-hand/split-foot malformation (SHFM), facial anomalies, cleft lip/palate, congenital heart defect (CHD), genital anomalies, and intellectual deficit." "" + "lethal hemolytic anemia-genital anomalies syndrome" "Waters-West syndrome is characterized by the association of lethal non-spherocytic, non-immune hemolytic anemia with abnormalities of the external genitalia (micropenis and hypospadias), flat occiput, dimpled earlobes, deep plantar creases, and increased space between the first and second toes. It has been described only once in two brothers who died a few hours after birth. The second-born infant had massive ascites and hepatosplenomegaly. The mother had two spontaneous abortions (at 6 and 12 weeks gestation) but gave birth to a normal girl, suggesting an autosomal or X-linked recessive mode of inheritance. Although the parents were not known to be consanguineous, they shared a French-Canadian and American Indian ethnic origin." "" + "obsolete mitochondrial myopathy and sideroblastic anemia" "" "true" + "malignant hyperthermia, susceptibility to, 4" "" + "maturity-onset diabetes of the young type 3" "Monogenic diabetes caused by inactivating mutation(s) in the gene HNF1A, encoding hepatocyte nuclear factor 1-alpha." "" + "ABCD syndrome" "An autosomal recessive disease that is characterized by albinism, black lock, cell migration disorder of the neurocytes of the gut and sensorineural deafness and has material basis in a mutation in the endothelin B receptor gene (EDNRB)." "" + "pigment dispersion syndrome" "Pigment-dispersion syndrome is an eye disorder that occurs when pigment granules that normally adhere to the back of the iris (the colored part of the eye) flake off into the clear fluid produced by the eye (aqueous humor). These pigment granules may flow towards the drainage canals of the eye, slowly clogging them and raising the pressure within the eye (intraocular pressure or IOP). This rise in eye pressure can cause damage to the optic nerve (the nerve in the back of the eye that carries visual images to the brain). If the optic nerve becomes damaged, pigment-dispersion syndrome becomes pigmentary glaucoma. This happens in about 30% of cases. Pigment-dispersion syndrome commonly presents between the second and fourth decades, which is earlier than other types of glaucoma. While men and women are affected in equal numbers, men develop pigmentary glaucoma up to 3 times more often than women. Myopia (nearsightedness) appears to be an important risk factor in the development of pigment-dispersion syndrome and is present in up to 80% of affected individuals. The condition may be sporadic or follow an autosomal dominant pattern of inheritance with reduced penetrance. At least one gene locus on chromosome 7 has been identified. Pigment-dispersion syndrome can be treated with eye drops or other medications. In some cases, laser surgery may be performed." "" + "schizophrenia 3" "A schizophrenia that has material basis in an autosomal dominant mutation of SCZD3 on chromosome 6p23." "" + "Autosomal dominant epilepsy with auditory features" "A rare, genetic, familial partial epilepsy disease characterized by focal seizures associated with prominent ictal auditory symptoms, and/or receptive aphasia, presenting in two or more family members and having a relatively benign evolution." "" + "autosomal dominant nocturnal frontal lobe epilepsy 1" "Any autosomal dominant nocturnal frontal lobe epilepsy in which the cause of the disease is a mutation in the CHRNA4 gene." "" + "autosomal dominant nocturnal frontal lobe epilepsy" "Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is a seizure disorder characterized by intermittent dystonia and/or choreoathetoid movements that occur during sleep. The clusters of nocturnal motor seizures are often stereotyped and brief." "" + "intrauterine growth retardation with increased mitomycin c sensitivity" "" + "HEC syndrome" "HEC syndrome is characterised by communicating hydrocephalus, endocardial fibroelastosis (EFE), and congenital cataracts. It has been described in two children, both of whom died a few months after birth (the first as a result of a respiratory infection and the second due to cardiac complications). The aetiology of the syndrome is unknown but a viral or genetic origin has been proposed." "" + "spondyloepiphyseal dysplasia, Reardon type" "Spondyloepiphyseal dysplasia, Reardon type is an extremely rare type of spondyloepiphyseal dysplasia described in several members of a single family to date and characterized by short stature, vertebral and femoral abnormalities, cervical instability and neurologic manifestations secondary to anomalies of the odontoid process." "" + "craniosynostosis, Adelaide type" "" + "craniosynostosis" "Craniosynostosis is defined as the premature fusion of one or more cranial sutures leading to secondary distortion of skull shape resulting in skull deformities with a variable presentation. Craniosynostosis may occur in an isolated setting or as part of a syndrome." "" + "setting-Sun phenomenon, familial benign" "" + "cone-rod dystrophy 1" "" + "orofacial cleft 11" "Any orofacial cleft in which the cause of the disease is a mutation in the BMP4 gene." "" + "cleft lip/palate" "Cleft lip and palate is a fissure type embryopathy extending across the upper lip, nasal base, alveolar ridge and the hard and soft palate." "" + "familial hypertryptophanemia" "Familial hypertryptophanemia is characterized by intellectual deficit associated with behavioral problems: periodic mood swings, exaggerated affective responses and abnormal sexual behavior. Twelve cases have been reported so far. Congenital abnormalities in tryptophan metabolism appear to be responsible for the tryptophanemia and tryptophanuria." "" + "loose anagen syndrome" "Loose anagen syndrome is a rare benign hair disorder affecting predominantly blond females in childhood and characterized by the presence of hair that can be easily and painlessly pulled out. Most of the hair is in the anagen phase and lacks an external epithelial sheath. Hair grows back quickly and the condition improves spontaneously with aging. Loose anagen hair can be associated with other anomalies, such as coloboma." "" + "UV-sensitive syndrome 1" "Any UV-sensitive syndrome in which the cause of the disease is a mutation in the ERCC6 gene." "" + "UV-sensitive syndrome" "UV-sensitive syndrome is a condition that is characterized by sensitivity to the ultraviolet (UV) rays in sunlight. Even a small amount of sun exposure can cause a sunburn in affected individuals. In addition, these individuals can have freckles, dryness, or changes in coloring (pigmentation) on sun-exposed areas of skin after repeated exposure. Some people with UV-sensitive syndrome have small clusters of enlarged blood vessels just under the skin (telangiectasia), usually on the cheeks and nose. Although UV exposure can cause skin cancers, people with UV-sensitive syndrome do not have an increased risk of developing these forms of cancer compared with the general population." "" + "enuresis, nocturnal, 1" "Nocturnal enuresis with at least 3 nightly episodes in children older than 7 years, where the child has always had the disorder." "" + "prolactin-producing pituitary gland adenoma" "Prolactinoma is a usually benign neoplasm of the pituitary gland that results in hyperprolactinemia. The most common clinical manifestations are amenorrhea and infertility in women; and impotence, decreased libido and infertility in men." "" + "fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement" "Any congenital fibrosis of extraocular muscles in which the cause of the disease is a mutation in the TUBB3 gene." "" + "Caroli disease" "Caroli disease (CD) is a rare congenital liver disease characterized by non-obstructive cystic dilatations of the intra-hepatic and rarely extra-hepatic bile ducts." "" + "carnitine palmitoyl transferase II deficiency, severe infantile form" "The severe infantile form of carnitine palmitoyltransferase II (CPT II) deficiency, an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the early-onset form of the disease." "" + "autosomal dominant nonsyndromic hearing loss 4A" "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the MYH14 gene." "" + "polycystic kidney disease 3 with or without polycystic liver disease" "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the GANAB gene." "" + "chondrocalcinosis 1" "" + "epilepsy, idiopathic generalized, susceptibility to, 1" "" + "varicella, severe recurrent" "" + "nasal dermoid cyst" "A dermoid cyst that involves the nose." "" + "facial dermoid cyst" "Facial dermoid cyst is a rare, benign cutaneous neoplasm containing keratinized epithelium and dermal derivatives, such as hair follicles, sweat and sebaceous glands, smooth muscle or fibroadipose tissue, which usually manifests as a firm, nonpulsatile mass, often with a sinus opening or a hair-bearing punctum, most commonly located in the periorbital and nasal area." "" + "Satoyoshi syndrome" "Satoyoshi syndrome is a rare syndrome characterized by progressive, painful, intermittent muscle spasms. These muscle spasms usually start between 6-15 years old. Other symptoms of the syndrome may include diarrhea and an inability of the digestive tract to absorb certain foods, especially carbohydrates (malabsorption). People affected by Satoyoshi syndrome may also have loss of hair on the head and body (alopecia universalis), short stature, and skeletal abnormalities. Women with Satoyoshi syndrome may not have a menstrual cycle (amenorrhea). In all published cases, only one person in a family has Satoyoshi syndrome. This is even true when the person with Satoyoshi syndrome comes from a large family. Satoyoshi syndrome seems to be more common in Japan. The exact cause of the syndrome is unknown, but some researchers think it may be an autoimmune disease. Satoyoshi syndrome can be diagnosed when a doctor sees symptoms that are consistent with the syndrome. The diagnosis can be confirmed by a variety of laboratory tests. Treatment for Satoyoshi syndrome includes medication to suppress the immune system." "" + "proximal myopathy with focal depletion of mitochondria" "" + "non-dystrophic myopathy" "A group of rare skeletal muscle ion-channel disorders caused by genetic mutations in the sodium and chloride channel genes. It is characterized by altered membrane excitability resulting in skeletal muscle stiffness. This group of myotonias is distinct from myotonic dystrophy because of the absence of systemic features or progressive weakness." "" + "D-2-hydroxyglutaric aciduria" "D-2-hydroxyglutaric aciduria (D-2-HGA) is a rare clinically variable neurological form of 2-hydroxyglutaric aciduria characterized biochemically by elevated D-2-hydroxyglutaric acid (D-2-HG) in the urine, plasma and cerebrospinal fluid." "" + "velo-facial-skeletal syndrome" "Velo-facial-skeletal syndrome is a very rare multiple congenital anomalies syndrome characterized by short stature, facial dysmorphism (elongated face, hypertelorism, broad and high nasal bridge, mild epicanthus, posteriorly angulated ears, narrow and high-arched palate), skeletal anomalies (mesomelic brachymelia, short broad hands, prominent finger pads, short stubby thumbs, hyperextensibility of small joints, small feet), hypernasality and normal intelligence. Delayed bone age has also been reported." "" + "familial hypocalciuric hypercalcemia 3" "Any familial hypocalciuric hypercalcemia in which the cause of the disease is a mutation in the AP2S1 gene." "" + "orofacial cleft 3" "" + "isolated cleft lip" "Isolated cleft lip is a fissure type embryopathy extending from the upper lip to the nasal base." "" + "dwarfism, familial, with muscle spasms" "" + "craniosynostosis 4" "Any craniosynostosis in which the cause of the disease is a mutation in the ERF gene." "" + "anophthalmia plus syndrome" "Anophthalmia plus syndrome is a very rare multiple congenital anomaly syndrome characterized by the presence of anophthalmia or severe microphthalmia, cleft lip/palate, facial cleft and sacral neural tube defects, along with various additional anomalies including congenital glaucoma, iris coloboma, primary hyperplastic vitreous, hypertelorism, low-set ears, clinodactyly, choanal atresia/stenosis, dysgenesis of sacrum, tethering of spinal cord, syringomyelia, hypoplasia of corpus callosum, cerebral ventriculomegaly and endocrine abnormalities. An autosomal recessive inheritance has been suggested." "" + "vitamin D-dependent rickets, type 2B" "Rickets caused by a post-receptor defect in the vitamin D signaling pathway producing vitamin D resistance due to constitutive overexpression of a nuclear ribonucleoprotein that competes with the vitamin D receptor-retinoid X receptor dimer binding with DNA vitamin D response elements. This condition has a similar phenotype to vitamin D receptor deficiency rickets including elevated 1,25-dihydroxyvitamin D (calcitriol) concentrations." "" + "progressive bifocal chorioretinal atrophy" "Progressive bifocal chorioretinal atrophy (PBCRA) is an early-onset chorioretinal dystrophy characterized by large atrophic macular and nasal retinal lesions, nystagmus, myopia, poor vision, and slow disease progression." "" + "autosomal recessive nonsyndromic hearing loss 4" "An autosomal recessive nonsyndromic deafness that has material basis in mutation in the SLC26A4 gene on chromosome 7q22." "" + "obsolete DFNB5" "" "true" + "obsolete neuronopathy, distal hereditary motor, type 5A" "" "true" + "frontotemporal dementia and/or amyotrophic lateral sclerosis 7" "Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the CHMP2B gene." "" + "isoproterenol-mediated vasodilatation" "" + "T-B+ severe combined immunodeficiency due to JAK3 deficiency" "Severe combined immunodeficiency (SCID) T-B+ due to JAK3 deficiency is a form of SCID characterized by severe and recurrent infections, associated with diarrhea and failure to thrive." "" + "low phospholipid associated cholelithiasis" "Low phospholipid associated cholelithiasis is a rare genetic hepatic disease characterized by cholesterol gallstones and intrahepatic stones developing before the age of 40 years." "" + "inherited susceptibility to asthma" "" + "nocturnal enuresis, 2" "Nocturnal enuresis where the child has been dry for at least 6 months but enuresis has recurred." "" + "obsolete eukaryotic translation elongation factor 1 alpha-1-like 14" "" "true" + "schizophrenia 4" "A schizophrenia that has material basis in an autosomal dominant mutation of PRODH on chromosome 22q11.21." "" + "mitochondrial import-stimulating factor" "" + "retinitis pigmentosa 17" "Any retinitis pigmentosa in which the cause of the disease is a mutation in the CA4 gene." "" + "Budd-Chiari syndrome" "Budd-Chiari syndrome (BCS) is caused by obstruction of hepatic venous outflow involving either the hepatic veins or the terminal segment of the inferior vena cava." "" + "cataract 10 multiple types" "Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CRYBA1 gene." "" + "Charcot-Marie-Tooth disease type 2B" "Autosomal dominant Charcot-Marie-Tooth disease type 2B (CMT2B) is a severe form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2B onset, in the 2nd or 3rd decade, is characterized by ulcerations and infections of feet. Symmetric and distal weakness develops mostly in the legs together with a severe symmetric distal sensory loss, tendon reflexes are only reduced at ankles and foot deformities, including pes cavus or planus and hammer toes, appear in childhood." "" + "type 1 diabetes mellitus 8" "A type 1 diabetes mellituss that has material basis in mutation of the locus at chromosome 6q25-q27." "" + "dilated cardiomyopathy 1B" "A dilated cardiomyopathy that has material basis in variation in the chromosome region 9q13." "" + "hereditary hyperferritinemia with congenital cataracts" "Hereditary hyperferritinemia with congenital cataracts is characterized by the association of early onset (although generally absent at birth) cataract with persistently raised plasma ferritin concentrations in the absence of iron overload." "" + "Fanconi anemia complementation group E" "Fanconi anemia caused by mutations of the FANCE gene. This is a protein coding gene. It is required for the nuclear accumulation of FANCC and provides a critical bridge between the FA complex and FANCD2." "" + "Wiskott-Aldrich syndrome, autosomal dominant form" "" + "ectodermal dysplasia with intellectual disability and syndactyly" "" + "enamel hypoplasia, cataracts, and aqueductal stenosis" "" + "agonadism, 46,XY, with intellectual disability, short stature, retarded bone age, and multiple extragenital malformations" "" + "cardiac arrhythmia, ankyrin-B-related" "" + "van den Ende-Gupta syndrome" "Van den Ende-Gupta syndrome is a very rare syndrome characterized by blepharophimosis, arachnodactyly, joint contractures, and characteristic dysmorphic features." "" + "protocadherin 3" "" + "obesity due to prohormone convertase I deficiency" "Prohormone convertase-I deficiency is the rarest form of monogenic obesity. The disorder is characterised by severe childhood obesity, hypoadrenalism, reactive hypoglycaemia, and elevated circulating levels of certain prohormones." "" + "genetic non-syndromic obesity" "" + "obesity due to congenital leptin resistance" "True" + "diffuse nonepidermolytic palmoplantar keratoderma" "A rare, genetic, isolated diffuse palmoplantar keratoderma characterized by diffuse, mild to thick, finely demarcated hyperkeratosis of palms and soles. Additional clinical findings include knuckle pad-like keratoses on fingers, hyperkeratosis of umbilicus and areolae, diffuse dry skin, hyperhidrosis, hangnails and frequent fungal infections. Histological examination of lesions reveals orthokeratotic hyperkeratosis, acanthosis, hypergranulosis, and mild lymphocyte infiltrations in the upper dermis with no evidence of epidermolysis." "" + "autosomal dominant nonsyndromic hearing loss 6" "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the WFS1 gene." "" + "epiphyseal dysplasia, multiple, 3" "Any multiple epiphyseal dysplasia in which the cause of the disease is a mutation in the COL9A3 gene." "" + "autosomal recessive nonsyndromic hearing loss 6" "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the TMIE gene." "" + "achondrogenesis type IB" "Achondrogenesis type 1B (ACG1B), a form of achondrogenesis, is a rare lethal skeletal dysplasia characterized by severe micromelia with very short fingers and toes, a flat face, a short neck, thickened soft tissue around the neck, hypoplasia of the thorax, protuberant abdomen, a hydropic fetal appearance and distinctive histological features of the cartilage." "" + "autosomal recessive nonsyndromic hearing loss 7" "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the TMC1 gene." "" + "glaucoma 3, primary infantile, B" "" + "cone-rod dystrophy 5" "Any cone-rod dystrophy in which the cause of the disease is a mutation in the PITPNM3 gene." "" + "cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies" "" + "infundibulopelvic stenosis-multicystic kidney syndrome" "Infundibulopelvic stenosis-multicystic kidney syndrome is a rare, genetic renal malformation syndrome characterized by variable degrees of malformation in the pelvicalyceal system (including unilateral or bilateral calyceal dilatation, infundibular stenosis, hypoplasia or stenosis of the renal pelvis) which lead to multicystic kidney. Clinically it exhibits abdominal, lumbar or flank pain, recurrent urinary tract infections, hypertension, proteinuria and often progresses to renal insufficiency. Calyceal dilatation and hydronephrosis are frequently seen on imaging." "" + "hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome" "This syndrome is characterised principally by Sprengel anomaly (upward displacement of the scapula) and hydrocephaly. Other anomalies such as psychomotor retardation, psychosis, brachydactyly, and costovertebral dysplasia may also be present." "" + "autosomal dominant nonsyndromic hearing loss 5" "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the GSDME gene." "" + "nephrotic syndrome, type 2" "Any nephrotic syndrome in which the cause of the disease is a mutation in the NPHS2 gene." "" + "familial idiopathic steroid-resistant nephrotic syndrome" "Familial idiopathic steroid-resistant nephrotic syndrome is characterized by a nephrotic syndrome with often early onset." "" + "arrhythmogenic right ventricular dysplasia 2" "Any familial isolated arrhythmogenic right ventricular dysplasia in which the cause of the disease is a mutation in the RYR2 gene." "" + "KRT14-related epidermolysis bullosa simplex" "KRT14-related epidermolysis bullosa simplex (EBS-AR KRT14) is a basal subtype of epidermolysis bullosa simplex EBS characterized by generalized or, less frequently, localized acral blistering." "" + "Brody myopathy" "Brody myopathy is a hereditary condition that affects the skeletal muscles (muscles used for movement). Symptoms typically begin in childhood and are characterized by muscle cramping and stiffening (myopathy) after exercise or other strenuous activity. These symptoms can worsen in cold temperatures and are usually painless, however, some individuals may have mild discomfort. Some cases of Brody myopathy are caused by mutations in the ATP2A1 gene. The cause of Brody myopathy for individuals not found to have an ATP2A1 gene mutation remains unknown. Brody myopathy is usually inherited in an autosomal recessive manner with a few reported cases of autosomal dominant inheritance. While there is no one treatment for Brody myopathy, certain muscle relaxants, such as dantrolene and blood pressure medications called calcium channel blockers, such as verapamil may be useful. Some researchers suggest that individuals found to have an ATP2A1 gene mutation have a slightly different disorder in which symptoms appear at an earlier age. They use the disease term 'Brody disease' for individuals with an identifiedmutation versus 'Brody syndrome' for those that do not. More research may help clarify whether these are two different disorders or a variation of the same disorder." "" + "qualitative or quantitative defects of protein SERCA1" "" + "portal vein, cavernous transformation of" "" + "Timothy syndrome" "Timothy syndrome is a multi-system disorder characterized by cardiac, hand, facial and neurodevelopmental features that include QT prolongation, webbed fingers and toes, flattened nasal bridge, low-set ears, small upper jaw, thin upper lip, and characteristic features of autism or autistic spectrum disorders." "" + "midline malformations, multiple, with limb abnormalities and hypopituitarism" "" + "absent tibia-polydactyly-arachnoid cyst syndrome" "Tibia absent - polydactyly - arachnoid cyst syndrome is a very rare constellation of multiple anomalies, including absence or hypoplasia of the tibia." "" + "ichthyosis-intellectual disability syndrome with large keratohyalin granules in the skin" "" + "dystonia 9" "A dystonia characterized by autosomal dominant inheritance of paroxysmal choreoathetosis and progressive spastic paraplegia, episodes are often precipitated by alcohol, fatigue, or emotional stress that has material basis in heterozygous mutation in the SLC2A1 gene on chromosome 1p34." "" + "paroxysmal dystonia" "" + "Usher syndrome type 1D" "A form of Usher syndrome type I that is caused by homozygous or compound heterozygous mutation in the gene encoding cadherin-23 (CDH23) on chromosome 10q22. It is inherited in an autosomal recessive manner." "" + "epilepsy, familial adult myoclonic, 1" "" + "benign adult familial myoclonic epilepsy" "Benign adult familial myoclonic epilepsy (BAFME) is an inherited epileptic syndrome characterized by cortical hand tremors, myoclonic jerks and occasional generalized or focal seizures with a non-progressive or very slowly progressive disease course, and no signs of early dementia or cerebellar ataxia." "" + "autosomal recessive nonsyndromic hearing loss 9" "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the OTOF gene." "" + "autosomal recessive nonsyndromic hearing loss 8" "An autosomal recessive nonsyndromic deafness that has material basis in mutation in the TMPRSS3 gene on chromosome 21q22." "" + "aplasia cutis-myopia syndrome" "Aplasia cutis-myopia syndrome is characterised by the association of aplasia cutis congenita with high myopia, congenital nystagmus and cone-rod dysfunction. It has been described in two siblings (brother and sister). Transmission is autosomal dominant." "" + "Mayer-Rokitansky-Küster-Hauser syndrome type 2" "Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 2, a form of MRKH syndrome, is characterized by congenital aplasia of the uterus and upper 2/3 of the vagina that is associated with at least one other malformation such as renal, vertebral, or, less commonly, auditory and cardiac defects. The acronym MURCS (MCllerian duct aplasia, Renal dysplasia, Cervical Somite anomalies) is also used." "" + "obsolete Cd4/CD8 T-cell ratio" "" "true" + "laterality defects, autosomal dominant" "" + "Ayme-Gripp syndrome" "" + "Harrod syndrome" "Harrod syndrome is characterized by the association of intellectual deficit, facial dysmorphism (a highly arched palate, pointed chin, and small mouth, hypotelorism, a long nose and large protruding ears), arachnodactyly, hypogenitalism (undescended testes and hypospadias) and failure to thrive." "" + "micromelic dwarfism, Fryns type" "" + "Charcot-Marie-Tooth disease type 1C" "Any Charcot-Marie-Tooth disease type 1 in which the cause of the disease is a mutation in the LITAF gene." "" + "hereditary hemorrhagic telangiectasia type 3" "" + "supranuclear palsy, progressive, 1" "Classical progressive supranuclear palsy, also known as Richardson's syndrome, is the most common clinical variant of progressive supranuclear palsy (PSP), a rare late-onset neurodegenerative disease characterized by postural instability, progressive rigidity, supranuclear gaze palsy and mild dementia." "" + "progressive supranuclear palsy" "Progressive supranuclear palsy (PSP) is a rare late-onset neurodegenerative disease characterized by supranuclear gaze palsy, postural instability, progressive rigidity, and mild dementia." "" + "ALG3-CDG" "A form of congenital disorders of N-linked glycosylation characterized by severe neurological involvement, including hypotonia, developmental delay, intellectual disability, postnatal microcephaly, and progressive brain and cerebellar atrophy. Epilepsy with hypsarrythmia is frequently reported. Additional features that may be observed include failure to thrive, arthrogryposis multiplex congenita (AMC), vision impairment (optic atrophy, iris coloboma) and facial dysmorphism (hypertelorism with a broad nasal bridge, large and thick ears, thin lips, micrognathia). The disease is caused by loss of function mutations of the gene ALG3 (3q27.3)." "" + "fallot complex-intellectual disability-growth delay syndrome" "Fallot complex - intellectual deficit - growth delay is a rare disorder characterized by tetralogy of Fallot, minor facial anomalies, and severe intellectual deficiency and growth delay." "" + "guanylate cyclase 2E" "" + "Brugada syndrome 1" "Any Brugada syndrome in which the cause of the disease is a mutation in the SCN5A gene." "" + "Brugada syndrome" "A genetically heterogeneous condition characterized by complete or incomplete right bundle branch block accompanied by ST elevation in leads V1-V3. There is a high incidence of ventricular arrhythmia that may result in sudden death." "" + "neuropathy, hereditary motor and sensory, type 6A" "Any hereditary motor and sensory neuropathy type 6 in which the cause of the disease is a mutation in the MFN2 gene." "" + "hereditary motor and sensory neuropathy type 6" "" + "dilated cardiomyopathy 1E" "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the SCN5A gene." "" + "lissencephaly type 3-metacarpal bone dysplasia syndrome" "This syndrome is characterised by severe microcephaly, agyria, agenesis of the corpus callosum, cerebellar hypoplasia, facial dysmorphology and epiphyseal stippling of the metacarpal bones. It has been described in two brothers. The syndrome is transmitted as an autosomal recessive trait and may be an allelic variant of Neu-Laxova syndrome and Lissencephaly type III with cystic dilations of the cerebellum and foetal akinesia sequence." "" + "trisomy 18-like syndrome" "" + "hereditary spastic paraplegia 9A" "" + "autosomal dominant spastic paraplegia type 9" "Any autosomal dominant complex spastic paraplegia in which the cause of the disease is a mutation in the ALDH18A1 gene." "" + "diaphragmatic defect-limb deficiency-skull defect syndrome" "This syndrome is characterized by the association of classical diaphragmatic hernia (Bochdalek type) with severe lung hypoplasia, and variable associated malformations. It has been reported only once in four successive foetuses (two females and two males) born to a nonconsanguineous couple. The spectrum of malformations is wide and includes, besides diaphragmatic hernia and hypoplastic lungs (present in the four foetuses), omphalocele (one case), severe limb hypoplasia (two cases), syndactyly of the toes (two cases), extra spleen (one case), and an ossification defect of the skull (one case). Inheritance seems either to be autosomal recessive or due to a gonadal mosaicism in one parent. Prenatal diagnosis of diaphragmatic hernia and severe lung hypoplasia detected on ultrasonography made the parents opt for termination of the four pregnancies." "" + "cleft lip/palate-intestinal malrotation-cardiopathy syndrome" "Cleft lip/palate - intestinal malrotation - cardiopathy is a multiple congenital anomaly syndrome described in 5 patients to date, characterized by flat face, hypertelorism, flat occiput, upward slanting palpebral fissures, cleft palate, micrognathia, short neck, and severe congenital heart defects which were lethal in 3 of the 5 patients reported. Malrotation of the intestine, bilateral clinodactyly, bilobed tongue, short fourth metatarsals and bifid thumbs were reported in individual cases. There have been no further descriptions in the literature since 1997." "" + "muscular dystrophy, congenital, with severe central nervous system atrophy and absence of large myelinated fibers" "" + "Matthew-Wood syndrome" "Matthew-Wood syndrome is a rare clinical entity including as main characteristics anophthalmia or severe microphthalmia, and pulmonary hypoplasia or aplasia." "" + "skeletal dysplasia-epilepsy-short stature syndrome" "Skeletal dysplasia-epilepsy-short stature syndrome is characterized by moderate to severe intellectual deficit, seizures, short stature, and skeletal dysplasia. It has been described in seven patients. Other manifestations can be associated (retinal abnormalities, brachydactyly, prognathism, dental malocclusion). It is transmitted as an autosomal recessive trait." "" + "African iron overload" "African iron overload is a rare disorder described in sub-Saharan African populations and is characterized by iron overload due to excess dietary iron intake and possibly genetic factors, leading to hepatic portal fibrosis and micronodular cirrhosis." "" + "autosomal dominant hypocalcemia 1" "Any autosomal dominant hypocalcemia in which the cause of the disease is a mutation in the CASR gene." "" + "autosomal dominant hypocalcemia" "Autosomal dominant hypocalcemia (AD hypocalcemia) is a disorder of calcium homeostasis characterized by variable degrees of hypocalcemia with abnormally low levels of parathyroid hormone (PTH) and persistant normal or elevated calciuria." "" + "pleuropulmonary blastoma" "A malignant neoplasm affecting the lungs and/or the pleura. Pleuropulmonary blastoma is seen in children. Microscopically, the tumor may show features of chondrosarcoma, leiomyosarcoma, rhabdomyosarcoma, liposarcoma, or undifferentiated sarcoma. In approximately 25% of patients with pleuropulmonary blastoma, there are other lesions or neoplasms that may affect patients or their families, including lung or kidney cysts, and ovarian or testicular neoplasms. Heterozygous germline mutations in DICER1 gene have been identified in families harboring pleuropulmonary blastomas." "" + "cataract 24" "A cataract that has material basis in variation in the region 17p13." "" + "early-onset anterior polar cataract" "" + "type 1 diabetes mellitus 11" "A type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 14q24.3-q31." "" + "Naxos disease" "Naxos disease is a recessively inherited condition with arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) and a cutaneous phenotype, characterised by peculiar woolly hair and palmoplantar keratoderma." "" + "arrhythmogenic right ventricular cardiomyopathy" "Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a heart muscle disease that consists in progressive dystrophy of primarily the right ventricular myocardium with fibro-fatty replacement and ventricular dilation, and that is clinically characterized by ventricular arrhythmias and a risk of sudden cardiac death." "" + "cardioectodermal syndrome" "Cardioectodermal syndromes are those in which phenotypic manifestations occur in the heart, skin, and/or hair. Variation in the genes of interest may occur in both an autosomal dominant inheritance pattern, or in an autosomal recessive inheritance pattern which may result in an earlier and/or more severe phenotypic presentation." "" + "brachyolmia-amelogenesis imperfecta syndrome" "Autosomal recessive brachyolmia-amelogenesis imperfecta syndrome is an exceedingly rare form of brachyolmia, characterized by mild platyspondyly, broad ilia, elongated femoral necks with coxa valga, scoliosis, and short trunked short stature associated with amelogenesis imperfecta of both primary and permanent dentition." "" + "alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome" "This syndrome is characterized by the association of total alopecia (present at birth), mild intellectual deficit and hypergonadotropic hypogonadism." "" + "osteoporosis-oculocutaneous hypopigmentation syndrome" "Osteoporosis-oculocutaneous hypopigmentation syndrome is characterised by osteoporosis and congenital oculocutaneous hypopigmentation. Three cases have been described in the literature. The mode of inheritance appears to be autosomal recessive." "" + "neuronal intestinal dysplasia, type B" "" + "Potocki-Shaffer syndrome" "Potocki-Shaffer syndrome is characterized by multiple exostoses, parietal foramina, enlargement of the anterior fontanelle and occasionally intellectual deficit and mild cranio-facial anomalies. To date, 23 individuals from 14 families have been reported. The syndrome is caused by contiguous gene deletions on the short arm of chromosome 11 (11p11.2)." "" + "hereditary mixed polyposis syndrome" "Hereditary mixed polyposis syndrome (HMPS) describes an autosomal dominantly inherited large-bowel disease characterized by the presence of a mixture of hyperplastic, atypical juvenile and adenomatous polyps that are associated with an increased risk of developing colorectal cancer if left untreated." "" + "dermatitis herpetiformis, familial" "Dermatitis herpetiformis is a rare, chronic, skin disorder characterized by groups of severely itchy blisters and raised skin lesions. These are more common on the knees, elbows, buttocks and shoulder blades. The slow onset of symptoms usually begins during adulthood, but children can also be affected. Other symptoms mayinclude fluid-filled sores; red lesions that resemble hives; and itchiness, rednessand burning. The exact cause of this disease is not known,but it is frequently associated with the inability to digest gluten. People with this disease are typically treated with the drug dapsone." "" + "Cayman type cerebellar ataxia" "Cerebellar ataxia, Cayman type is characterised by psychomotor retardation, hypotonia and cerebellar dysfunction (nystagmus, ataxic gait, truncal ataxia, dysarthric speech and intention tremor), associated with cerebellar hypoplasia." "" + "diabetes mellitus, noninsulin-dependent, 1" "" + "autosomal recessive limb-girdle muscular dystrophy type 2F" "Autosomal recessive limb-girdle muscular dystrophy type 2F (LGMD2F) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a variable age of onset of progressive weakness and wasting of the proximal skeletal muscles of the shoulder and pelvic girdles, frequently associated with progressive respiratory muscle impairment and cardiomyopathy. Calf hypertrophy, muscle cramps and elevated serum creatine kinase levels are also observed. Neuropsychomotor development is usually normal." "" + "qualitative or quantitative defects of delta-sarcoglycan" "" + "myeloid tumor suppressor" "" + "epithelial basolateral chloride conductance regulator, rabbit, homolog of" "" + "autosomal dominant nonsyndromic hearing loss 10" "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the EYA4 gene." "" + "autosomal dominant nonsyndromic hearing loss 11" "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the MYO7A gene." "" + "type 1 diabetes mellitus 13" "A type 1 diabetes mellituss that has material basis in mutation of the locus at chromosome 2q34." "" + "odontomicronychial dysplasia" "Odontomicronychial dysplasia is a rare, hereditary ectodermal dysplasia syndrome characterized by involvement of teeth and nails - precocious eruption and shedding of deciduous dentition, precocious eruption of secondary dentition with short, rhomboid roots, and short, thin, slow growing nails." "" + "RASopathy" "Developmental syndromes caused by germline mutations (or in rare cases by somatic mosaicism) in genes that alter the Ras subfamily and mitogen-activated protein kinases that control signal transduction." "" + "porencephaly-cerebellar hypoplasia-internal malformations syndrome" "Porencephaly-cerebellar hypoplasia-internal malformations syndrome is rare central nervous system malformation syndrome characterized by bilateral porencephaly, absence of the septum pellucidum and cerebellar hypoplasia with absent vermis. Additionally, dysmorphic facial features (hypertelorism, epicanthic folds, high arched palate, prominent metopic suture), macrocephaly, corneal clouding, situs inversus, tetralogy of Fallot, atrial septal defects and/or seizures have been observed." "" + "renal dysplasia, cystic, susceptibility to" "" + "cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome" "Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss (CAPOS syndrome) is a rare autosomal dominant neurological disorder characterized by early onset cerebellar ataxia, associated with areflexia, progressive optic atrophy, sensorineural deafness, a pes cavus deformity, and abnormal eye movements." "" + "atrophia maculosa varioliformis cutis, familial" "" + "spinal dysplasia, Anhalt type" "" + "ectodermal dysplasia with natal teeth, Turnpenny type" "Ectodermal dysplasia with natal teeth, Turnpenny type is characterised by hypo- or oligodontia and acanthosis nigricans. It has been described in four generations of one family. Onset generally occurs during adolescence. Some patients were born with multiple teeth. Hair anomalies (sparse body and scalp hair) were also reported. Inheritance is autosomal dominant." "" + "Martinez-Frias syndrome" "" + "myelodysplasia, immunodeficiency, facial dysmorphism, short stature, and psychomotor delay" "" + "ectrodactyly of lower limbs, congenital heart defect, and micrognathia" "" + "MMEP syndrome" "A congenital syndromic form of split-hand/foot malformation (SHFM). It is characterized by microcephaly, microphthalmia, ectrodactyly of the lower limbs and prognathism. Intellectual deficit has been reported. MMEP syndrome is considered to be a very rare condition, although the exact prevalence remains unknown. The etiology is not completely understood. Disruption of the sorting nexin 3 gene (SNX3; 6q21) has been shown to play a causative role in MMEP, although this was not confirmed in recent studies." "" + "short stature, Brussels type" "This syndrome is characterised by short stature presenting in the neonatal period associated with osteochondrodysplastic lesions and facial dysmorphism." "" + "deafness-epiphyseal dysplasia-short stature syndrome" "This syndrome is characterised by sensorineural deafness, short stature, femoral epiphyseal dysplasia, umbilical and inguinal hernias and developmental delay (growth retardation and mild intellectual deficit)." "" + "epilepsy-microcephaly-skeletal dysplasia syndrome" "Epilepsy-microcephaly-skeletal dysplasia syndrome is characterized by the association of moderate to severe intellectual deficit, microcephaly, epilepsy, coarse face, hirsutism and skeletal abnormalities (scoliosis and retarded bone development). It has been described only once, in two sibs (one male and one female). This syndrome is likely to be an autosomal recessive condition and thus parents should be informed of a 25% risk of recurrence for other children." "" + "fine-Lubinsky syndrome" "Fine-Lubinsky syndrome is characterised by psychomotor delay, brachycephaly with flat face, small nose, microstomia, cleft palate, cataract, hearing loss, hypoplastic scrotum and digital anomalies." "" + "microcephaly-cardiac defect-lung malsegmentation syndrome" "Microcephaly - cardiac defect - lung malsegmentation syndrome is a very rare syndrome characterized by the combination of microcephaly, heart defects, renal hypoplasia, lung segmentation defects and cleft palate." "" + "lethal short-limb skeletal dysplasia, Al Gazali type" "" + "amelia cleft lip palate hydrocephalus iris coloboma" "" + "intellectual disability-sparse hair-brachydactyly syndrome" "Intellectual disability-sparse hair-brachydactyly syndrome is a very rare condition of unknown etiology consisting of short stature, hypotrichosis, brachydactyly with cone-shaped epiphyses, epilepsy and severe mental delay. After the initial delineation of this syndrome by Nicolaides and Baraitser in 1993, only five more patients were published in the literature up to now." "" + "autosomal recessive amelia" "Autosomal recessive amelia is characterised by the absence of the upper limbs and severe underdevelopment of the lower limbs. Minor facial abnormalities (depressed nasal root, upturned nose, infra-orbital creases, prominent cheeks and micrognathia) were also reported. The syndrome has been described in three foetuses born to non consanguineous parents." "" + "distal monosomy 10p" "Distal monosomy 10p is a rare chromosomal disorder in which the tip of the short arm (p arm) of chromosome 10 is deleted resulting in a variable phenotype depending on the size of the deletion. The deletion may involve only the terminal 10p15 band, or extend towards the centromere to bands 10p14 or 10p13." "" + "Wilms tumor 4" "" + "autosomal dominant nonsyndromic hearing loss 9" "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the COCH gene." "" + "holoprosencephaly-craniosynostosis syndrome" "Holoprosencephaly-craniosynostosis syndrome is a rare developmental defect during embryogenesis syndrome characterized by the association of primary craniosynostosis (usually involving the coronal and metopic sutures) with holoprosencephaly (ranging from alobar to, most commonly, semilobar) and various skeletal anomalies (typically, hand and feet anomalies including fifth digit clinodactyly, hypoplastic phalanges and cone-shaped epiphyses, small vertebral bodies, scoliosis, coxa valga and/or flexion deformities of hips). Craniofacial asymmetry, microcephaly, brachy/plagiocephaly, short stature and psychomotor delay are additional common features." "" + "chorea, remitting, with nystagmus and cataract" "" + "aprosencephaly cerebellar dysgenesis" "" + "midline cerebral malformation" "" + "hidrotic ectodermal dysplasia, Christianson-Fourie type" "Hidrotic ectodermal dysplasia, Christianson-Fourie type is a rare ectodermal dysplasia syndrome characterized by tricho- and onychodysplasia in association with cardiac rhythm abnormalities. Patients present with sparse scalp hair and eyelashes, absent or sparse eyebrows, dystrophic thickened nails (on fingers distal end may be lifted from the nail bed) and supraventricular tachicardia or sinus bradicardia." "" + "lethal chondrodysplasia, Seller type" "" + "Hunter-McAlpine craniosynostosis" "Hunter-McAlpine craniosynostosis is characterised by craniosynostosis, intellectual deficit, short stature, facial dysmorphism (oval face with almond-shaped palpebral fissures, droopy eyelids and a small nose) and minor distal anomalies. It has been described in 10 patients. Transmission is autosomal dominant and the syndrome is associated with partial duplication of the long arm of chromosome 5 (5q35-5qter)." "" + "Charcot-Marie-Tooth disease type 4B1" "Charcot-Marie-Tooth disease type 4B1 (CMT4B1) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by an early childhood-onset of severe, demyelinating sensorimotor neuropathy, various degrees of complex myelin outfoldings seen on peripheral nerve biopsy, very slow, and often undetectable, nerve conduction velocities, and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, sensory loss, and frequent pes cavus). Other reported features include facial weakness, vocal cord paresis, respiratory difficulties, and skeletal deformities (e.g. chest deformities, claw hands, pes equinovarus)." "" + "autosomal recessive nonsyndromic hearing loss 12" "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has material basis in mutation in the CDH23 gene on chromosome 10q22." "" + "type 1 diabetes mellitus 12" "Any type 1 diabetes mellitus in which the cause of the disease is a mutation in the CTLA4 gene." "" + "cervical ribs, Sprengel anomaly, anal atresia, and urethral obstruction" "" + "van Maldergem syndrome 1" "Any van Maldergem syndrome in which the cause of the disease is a mutation in the DCHS1 gene." "" + "van Maldergem syndrome" "Cerebrofacioarticular syndrome is a rare multiple congenital anomalies syndrome characterized by mild to severe intellectual disability, a distinctive facial gestalt (blepharophimosis, maxillary hypoplasia, telecanthus, microtia and atresia of the external auditory meatus) as well as skeletal and articular abnormalities (e.g. camptodactyly of the fingers, cutaneous syndactyly, talipes equinovarus, flexion contractures of the proximal interphalangeal joints, hip or elbow subluxation, joint laxity). Affected individuals also present neonatal hypotonia, variable respiratory manifestations, chronic feeding difficulties and gray matter heterotopia." "" + "hereditary thrombocytopenia and hematologic cancer predisposition syndrome" "The disorder is characterized by thrombocytopenia of varying severity and a predisposition to hematologic malignancies. It may be caused due to germ line variations in the RUNX1, ETV6 or ANKRD26 genes." "" + "isolated constitutional thrombocytopenia" "" + "diabetes mellitus, noninsulin-dependent, 2" "" + "diabetes mellitus, transient neonatal, 1" "" + "transient neonatal diabetes mellitus" "Transient neonatal diabetes mellitus (TNDM) is a genetically heterogeneous form of neonatal diabetes (NDM) characterized by hyperglycemia presenting in the neonatal period that remits during infancy but recurs in later life in most patients." "" + "autosomal dominant nonsyndromic hearing loss 7" "An autosomal dominant nonsyndromic deafness that is characterized by progressive high-tone hearing loss and has material basis in variation in the chromosome region 1q21-q23." "" + "retinitis pigmentosa 18" "Any retinitis pigmentosa in which the cause of the disease is a mutation in the PRPF3 gene." "" + "myofibrillar myopathy 1" "Desminopathy is a rare genetic skeletal muscle disease characterized by abnormal chimeric aggregates of desmin and other cytoskeletal proteins and granulofilamentous material at the ultrastructural level in muscle biopsies and variable clinical/ myopathological features, age of disease onset and rate of disease progression. Patients present with bilateral skeletal muscle weakness that starts in distal leg muscles and spreads proximally, sometimes involving trunk, neck flexors and facial muscles and often cardiomyopathy manifested by conduction blocks, arrhythmias, chronic heart failure, and sometimes tachyarrhythmia. Weakness eventually leads to wheelchair dependence. Respiratory insufficiency can be a major cause of disability and death, beginning with nocturnal hyperventilation with oxygen desaturation and progressing to daytime respiratory failure." "" + "microcephaly, corpus callosum dysgenesis, and cleft lip/palate" "" + "anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosis" "" + "rhizomelic dysplasia, Patterson-Lowry type" "Rhizomelic dysplasia, Patterson-Lowry type is a rare primary bone dysplasia characterized by short stature, severe rhizomelic shortening of the upper limbs associated with specific malformations of humeri (including marked widening and flattening of proximal metaphyses, medial flattening of the proximal epiphyses, and lateral bowing with medial cortical thickening of the proximal diaphyses), marked coxa vara with dysplastic femoral heads and brachimetacarpalia." "" + "progressive deafness with stapes fixation" "Stapes fixation (stapedovestibular ankylosis) is a hearing loss condition that appears as a consequence of annular ligament destruction followed by excessive connective tissue production during the healing process. This condition is mainly observed in otosclerosis, but is also found in chronic otitis media with tympanosclerosis, and other rare bone diseases such as Paget's disease and osteogenesis imperfecta (Lobstein disease)." "" + "dislocation of the hip-dysmorphism syndrome" "Dislocation of the hip-dysmorphism syndrome is a rare multiple congenital anomalies syndrome characterized by bilateral congenital dislocation of the hip, characteristic facial features (flat mid-face, hypertelorism, epicanthus, puffiness around the eyes, broad nasal bridge, carp-shaped mouth), and joint hyperextensibility. Congenital heart defects, congenital dislocation of the knee, congenital inguinal hernia, and vesicoureteric reflux have also been reported. There have been no further descriptions in the literature since 1995." "" + "oculoauriculofrontonasal syndrome" "" + "trichodental syndrome" "Trichodental syndrome is characterised by the association of fine, dry and short hair with dental anomalies. It has been described in less than 10 families. The mode of transmission is autosomal dominant." "" + "psoriasis 3, susceptibility to" "" + "Charcot-Marie-Tooth disease type 4D" "Charcot-Marie-Tooth disease type 4D (CMT4D) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by a childhood-onset of severe, progressive, demyelinating sensorimotor neuropathy manifesting with distal muscle weakness and atrophy, sensorineural hearing impairment leading to deafness (usually in third decade), severely reduced nerve conduction velocities, and skeletal, especially foot, deformities. Tongue atrophy has also been reported." "" + "severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive" "A rare, genetic T-B- severe combined immunodeficiency disorder due to null mutations in recombination activating gene (RAG) 1 and/or RAG2 resulting in less than 1% of wild type V(D)J recombination activity. Patients present with neonatal onset of life-threatening, severe, recurrent infections by opportunistic fungal, viral and bacterial micro-organisms, as well as skin rashes, chronic diarrhea, failure to thrive and fever. Immunologic observations include profound T- and B-cell lymphopenia, normal NK counts and low or absent serum immunoglobulins; some patients may have eosinophilia." "" + "inflammatory bowel disease 2" "An inflammatory bowel disease that has material basis in variation in the chromosome region 12p13.2-q24.1." "" + "congenital myasthenic syndrome 1A" "Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the CHRNA1 gene." "" + "patent ductus venosus" "" + "isolated hereditary congenital facial paralysis" "Isolated hereditary congenital facial paralysis (IHCFP) is an extremely rare neurological disorder presumed to result from maldevelopment of the facial nucleus and/or cranial nerve and has been reported in fewer than 10 families to date. It manifests as non-progressive, isolated, unilateral or bilateral, symmetrical or asymmetrical facial palsy. Involvement of the branches of the facial nerve can be unequal." "" + "Charcot-Marie-Tooth disease type 2D" "Autosomal dominant Charcot-Marie-Tooth disease type 2D (CMT2D) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by distal weakness primarily and predominantly occurring in the upper limbs and tendon reflexes absent or reduced in the arms and decreased in the legs. Progression is slow." "" + "ribbing disease" "Ribbing disease is a rare bone disease that causes bony growths on the long bones, such as the thigh bone and shine bone.Ribbing diseaseaffects women more frequently than men. The most common symptom is pain. A single studyof 14 patients found an association between Ribbing disease and impaired exercise tolerance and changes in heart function (i.e., increased prevalence of arrhythmia and changes in left ventricular systolic and diastolic function).The cause of the condition iscurrently unknown, although some cases appear to be genetic and inherited in an autosomal recessive fashion.Optimal treatment for the disease is largely unknown. There have been case reports describingtreatment of Ribbing diseasewith bisphosphonate pamidronate. Results have been mixed. The conditionoften resolves on its own; howevercases of progressive disease have been described." "" + "mucopolysaccharidosis type 9" "An autosomal recessive lysosomal storage disease caused by mutation(s) in the HYAL1 gene, encoding hyaluronidase-1. It is characterized by short stature and hyaluronidase deficiency." "" + "dilated cardiomyopathy 1C" "A dilated cardiomyopathy that has material basis in mutation in the LDB3 gene on chromosome 10q23.2." "" + "left ventricular noncompaction" "Left ventricular noncompaction (LVNC) is a rare cardiomyopathy characterized anatomically by prominent left ventricular trabeculae and deep intratrabecular recesses causing progressive systolic and diastolic dysfunction, conduction abnormalities, and occasionally thromboembolic events." "" + "dilated cardiomyopathy 1D" "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the TNNT2 gene." "" + "autosomal agammaglobulinemia" "Agammaglobulinemia, non-Bruton type (autosomal agammaglobulinemia) is a rare form of agammaglobulinemia, a primary immunodeficiency disease, and is characterized by variable immune dysfunction with frequent and recurrent bacterial infections and/or chronic diarrhea." "" + "Axenfeld-Rieger syndrome type 2" "An Axenfeld-Rieger syndrome that has material basis in deletions in the region 13q14." "" + "prostate cancer, hereditary, 1" "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." "" + "human HOXA1 syndromes" "Human HOXA1 syndromes is characterised by deafness, central hypoventilation, congenital ocular paralysis and developmental retardation. Cardiac anomalies and paralysis of the vocal chords may also be present. Six cases have been reported so far. Transmission is thought to be autosomal recessive." "" + "microcephaly, retinitis pigmentosa, and sutural cataract" "" + "peroxisome biogenesis disorder 1B" "" + "autosomal dominant nonsyndromic hearing loss 12" "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the TECTA gene." "" + "autosomal dominant nonsyndromic hearing loss 3A" "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the GJB2 gene." "" + "cataract 3 multiple types" "Any cataract (disease) in which the cause of the disease is a mutation in the CRYBB2 gene." "" + "alacrima, congenital, autosomal recessive" "" + "facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome" "Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome is a syndromic developmental defect of the eye characterized by dislocated or subluxated crystalline lenses, anterior segment abnormalities, and distinctive facial features such as flat cheeks and a prominent, beaked nose. Affected individuals may develop nontraumatic conjunctival cysts, also referred to as filtering blebs." "" + "congenital hypotrichosis with juvenile macular dystrophy" "A very rare syndrome characterized by sparse and short hair from birth followed by progressive macular degeneration leading to blindness." "" + "Stüve-Wiedemann syndrome" "A rare autosomal recessive congenital primary skeletal dysplasia, characterized by small stature, bowing of the long bones, camptodactyly, hyperthermic episodes, respiratory distress/apneic episodes and feeding difficulties that usually lead to early mortality." "" + "multiple epiphyseal dysplasia, Lowry type" "Multiple epiphyseal dysplasia, Lowry type is a rare primary bone dysplasia characterized by small, flat epiphyses (esp. the capital femoral epiphyses), rhizomelic shortening of limbs, cleft of secondary palate, micrognathia, mild joint contractures and facial dysmorphism (incl. mildly upward-slanting palpebral fissures, hypertelorism, broad nasal tip). Additionally reported features include scoliosis, genu valgum, mild pectus excavatum, platyspondyly, dislocated radial heads, brachydactyly, hypoplastic fibulae and talipes equinovarus." "" + "dyssegmental dysplasia-glaucoma syndrome" "This syndrome is characterised by Kniest dysplasia, spine abnormalities and severe dwarfism. Glaucoma has also been reported. The syndrome has been described in two unrelated children." "" + "horns in sheep" "" + "Wilms tumor 5" "Any Wilms tumor in which the cause of the disease is a mutation in the POU6F2 gene." "" + "Charcot-Marie-Tooth disease type 4C" "Charcot-Marie-Tooth disease type 4C (CMT4C) is a subtype of Charcot-Marie-Tooth type 4 characterized by childhood or adolescent-onset of a relatively mild, demyelinating sensorimotor neuropathy that contrasts with a severe, rapidly progressing, early-onset scoliosis, and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, sensory loss, and often foot deformity). A wide spectrum of nerve conduction velocities are observed and cranial nerve involvement and kyphoscoliosis have also been reported." "" + "familial multiple trichoepithelioma" "" + "spastic paraplegia and Evans syndrome" "" + "lung agenesis-heart defect-thumb anomalies syndrome" "Lung agenesis - heart defect - thumb anomalies is a very rare syndrome characterized by unilateral complete or partial lung agenesis, congenital cardiac defects and ipsilateral thumb anomalies." "" + "iris pigment epithelium anomalies" "" + "acute leukemia of ambiguous lineage" "An acute leukemia in which the blasts lack sufficient evidence to classify as myeloid or lymphoid or they have morphologic and/or immunophenotypic characteristics of both myeloid and lymphoid cells. (WHO, 2001)" "" + "secondary dysgenetic glaucoma associated with neural crest cell migration anomaly" "True" + "neural tube defects, folate-sensitive" "" + "paragangliomas 2" "Any paraganglioma in which the cause of the disease is a mutation in the SDHAF2 gene." "" + "type 1 diabetes mellitus 15" "A type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 6q21." "" + "spondyloepimetaphyseal dysplasia-abnormal dentition syndrome" "Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome is a rare primary bone dysplasia disorder characterized by the association of dental anomalies (oligodontia with pointed incisors) and generalized platyspondyly with epiphyseal and metaphyseal involvement. Thin tapering fingers and accentuated palmar creases are additional features." "" + "trichothiodystrophy 1, photosensitive" "" + "acute insulin response" "" + "obsolete Bartter disease type 1" "" "true" + "Sheldon-hall syndrome" "Sheldon-Hall syndrome (SHS) is a rare multiple congenital contracture syndrome characterized by contractures of the distal joints of the limbs, triangular face, downslanting palpebral fissures, small mouth, and high arched palate." "" + "glaucoma type 1C" "" + "sebaceous gland hyperplasia, familial presenile" "" + "tricho-oculo-dermo-vertebral syndrome" "" + "T-cell immunodeficiency, congenital alopecia, and nail dystrophy" "A severe combined immunodeficiency characterized by congenital alopecia, severe T-cell immunodeficiency, and ridging, pitting or curving of all nails that has material basis in homozygous mutation in the FOXN1 gene on chromosome 17q11-q12." "" + "deaf blind hypopigmentation syndrome, Yemenite type" "Yemenite deaf-blind hypopigmentation syndrome is an exceedingly rare genetic disorder characterized by cutaneous pigmentation anomalies, ocular disorders and hearing loss." "" + "curry-Jones syndrome" "Curry-Jones syndrome is a form of syndromic craniosynostosis, characterized by unilateral coronal craniosynostosis or multiple suture synostosis associated with complete or partial agenesis of the corpus callosum, preaxial polysyndactyly and syndactyly of hands and/or feet, along with anomalies of the skin (characteristic pearly white areas that become scarred and atrophic, abnormal hair growth around the eyes and/or cheeks, and on the limbs), eyes (iris colobomas, microphthalmia,) and intestine (congenital short gut, malrotation, dysmotility, chronic constipation, bleeding and myofibromas). Developmental delay and variable degrees of intellectual disability may also be observed. Multiple intra-abdominal smooth muscle hamartomas, trichoblastoma of the skin, occipital meningoceles and development of desmoplastic medulloblastoma have been reported." "" + "superior transverse scapular ligament, calcification of, familial" "" + "Quebec platelet disorder" "Quebec platelet syndrome (QPS) is a platelet granule disorder characterized by moderate to severe bleeding after trauma, surgery or obstetric interventions, frequent ecchymoses, mucocutaneous bleeding and muscle and joint bleeds." "" + "retinitis pigmentosa 19" "Any retinitis pigmentosa in which the cause of the disease is a mutation in the ABCA4 gene." "" + "systemic lupus erythematosus, susceptibility to, 1" "Any systemic lupus erythematosus in which the cause of the disease is a mutation in the TLR5 gene." "" + "preaxial hallucal polydactyly" "" + "diabetic embryopathy" "Diabetic embryopathy is characterized by congenital anomalies or foetal/neonatal complications in an infant that are linked to diabetes in the mother." "" + "benign familial neonatal-infantile seizures" "Benign familial neonatal-infantile seizures (BFNIS) is a benign familial epilepsy syndrome with an intermediate phenotype between benign familial neonatal seizures (BFNS) and benign familial infantile seizures (BFIS). So far, this syndrome has been described in multiple members of 10 families. Age of onset in these BFNIS families varied from 2 days to 6 months, with spontaneous resolution in most cases before the age of 12 months. Like BFNS and BFIS, seizures in BFNIS generally occur in clusters over one or a few days with posterior focal seizure onset. BFNIS is caused by mutations in the SCN2A gene (2q24.3), encoding the voltage-gated sodium channel alpha-subunit Na(V)1.2. Transmission is autosomal dominant." "True" + "benign familial infantile epilepsy" "Benign familial infantile epilepsy (BFIE) is a genetic epileptic syndrome characterized by the occurrence of afebrile repeated seizures in healthy infants, between the third and eighth month of life." "" + "folate level in erythrocytes" "" + "Ehlers-Danlos syndrome, musculocontractural type" "Ehlers-Danlos syndrome, musculocontractural type is a congenital form of Ehlers-Danlos syndrome characterized by distinct craniofacial features, multiple contractures, progressive joint and skin laxity, adduction-flexion contractures of the thumbs, talipes equinovarus, bruisability and multisystem fragility-related manifestations." "" + "cone-rod dystrophy 6" "Any cone-rod dystrophy in which the cause of the disease is a mutation in the GUCY2D gene." "" + "GUCY2D retinopathy" "Any inherited retinal dystrophy in which the cause of the disease is a mutation in the GUCY2D gene." "" + "ceroid lipofuscinosis, neuronal, 6A" "A rare condition that affects the nervous system. Signs and symptoms of the condition generally develop between ages 18 months and 8 years, although later onset cases have been reported. Affected people may experience loss of muscle coordination (ataxia), seizures that do not respond to medications, muscle twitches (myoclonus), visual impairment, and developmental regression (loss of previously acquired skills). It occurs predominantly in people of Portuguese, Indian, Pakistani, or Czech ancestry. CLN6-NCL is caused by changes (mutations) in the CLN6 gene and is inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms." "" + "colobomatous microphthalmia - obesity - hypogenitalism - intellectual disability syndrome" "" + "tetrasomy 12p" "Pallister-Killian syndrome (PKS) is a rare multiple congenital anomaly/intellectual deficit syndrome caused by mosaic tissue-limited tetrasomy for chromosome 12p." "" + "partial trisomy/tetrasomy of the short arm of chromosome 12" "" + "chromosomal disease with overgrowth" "True" + "chromosome 18q deletion syndrome" "A condition in which some or all of the cells of the body contain extra genetic material from chromosome 18. Clinical features of this condition may include the following: spina bifida, hearing loss, cleft lip, cleft palate, undescended testes, rocker bottom feet, micrognathia, low set ears, cardiac anomalies (ventricular septal defect, atrial septal defect, patent ductus arteriosus, tetralogy of Fallot), intellectual disability, holoprosencephaly, pituitary dysplasia, seizures, autoimmune disorders, hip dysplasia, and/or congenital cataracts." "" + "partial deletion of the long arm of chromosome 18" "True" + "Spondylospinal thoracic dysostosis" "Spondylospinal thoracic dysostosis is an extremely rare skeletal disorder characterized bya short, curved spine and fusion of the spinous processes, short thorax with 'crab-like' configuration of the ribs, underdevelopment of the lungs (pulmonary hypoplasia), severe arthrogryposis and multiple pterygia (webbing of the skin across joints), and underdevelopment of the bones of the mouth.This condition is believed to be inherited in an autosomal recessive manner.It does notappear to be compatible with life." "" + "premature aging syndrome, Okamoto type" "" + "acroosteolysis-keloid-like lesions-premature aging syndrome" "" + "exudative vitreoretinopathy 4" "" + "PHGDH deficiency" "3-Phosphoglycerate dehydrogenase deficiency (3-PGDH deficiency) is an autosomal recessive form of serine deficiency syndrome characterized clinically in the few reported cases by congenital microcephaly, psychomotor retardation and intractable seizures in the infantile form and by absence seizures, moderate developmental delay and behavioral disorders in the juvenile form" "" + "hyperinsulinemic hypoglycemia, familial, 2" "Any hyperinsulinemic hypoglycemia in which the cause of the disease is a mutation in the KCNJ11 gene." "" + "congenital isolated hyperinsulinism" "Congenital isolated hyperinsulinism (CHI), a rare endocrine disease is the most frequent cause of severe and persistent hypoglycemia in the neonatal period and early infancy and is characterized by an excessive or uncontrolled insulin secretion (inappropriate for the level of glycemia) and recurrent episodes of profound hypoglycemia requiring rapid and intensive treatment to prevent neurological sequelae. CHI comprises 2 different forms: diazoxide-sensitive diffuse hyperinsulinism and diazoxide-resistant hyperinsulinism." "" + "acrofacial dysostosis, Palagonia type" "Acrofacial dysostosis, Palagonia type is a very rare form of acrofacial dysostosis, reported in four members of a family from the Sicilian village of Palagonia, characterized by normal intelligence, shortness of stature, and mild acrofacial dysostosis (malar hypoplasia, micrognathia and webbing of digits with shortening of the fourth metacarpals) associated with oligodontia, normal or high arched palate, aplasia cutis verticis with pili torti, mild cutaneous syndactyly of digits 2-5, webbing of digits and shortening of the fourth metacarpals, and unilateral cleft lip. Features are similar to those seen in Zlotogora-Ogur syndrome, although the latter shows no sign of acrofacial dysostosis. There have been no further reports in the literature since 1997." "" + "vacuolar Neuromyopathy" "" + "progressive familial intrahepatic cholestasis type 2" "Progressive familial intrahepatic cholestasis type 2 (PFIC2), a type of progressive familial intrahepatic cholestasis (PFIC), is a severe, neonatal, hereditary disorder in bile formation that is hepatocellular in origin and not associated with extrahepatic features. Initially, PFIC2 was reported under the name Byler syndrome." "" + "benign recurrent intrahepatic cholestasis type 2" "" + "Gomez-Lopez-Hernandez syndrome" "Lopez-Hernandez syndrome, which may be classified among the neurocutaneous syndromes, associates abnormalities of the cerebellum (rhombencephalosynapsis), cranial nerves (trigeminal anesthesia), and scalp (alopecia). It has been reported in 11 individuals so far. Other features observed in patients were craniosynostosis, midfacial hypoplasia, bilateral corneal opacities, low-set ears, short stature, moderate intellectual impairment and ataxia. Hyperactivity, depression, self-injurious behaviour and bipolar disorder have also been reported." "" + "autoimmune lymphoproliferative syndrome type 1" "" + "autoimmune lymphoproliferative syndrome" "Autoimmune lymphoproliferative syndrome (ALPS) is a rare, inherited disorder characterized by non-malignant lymphoproliferation, multilineage cytopenias, and a lifelong increased risk of Hodgkin's and non-Hodgkin's lymphoma." "" + "autosomal dominant nonsyndromic hearing loss 13" "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the COL11A2 gene." "" + "autosomal recessive nonsyndromic hearing loss 15" "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the GIPC3 gene." "" + "sperm-specific antigen 1" "" + "cataract 14 multiple types" "Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the GJA3 gene." "" + "malignant hyperthermia, susceptibility to, 5" "Any malignant hyperthermia of anesthesia in which the cause of the disease is a mutation in the CACNA1S gene." "" + "malignant hyperthermia, susceptibility to, 6" "" + "glomerulopathy with fibronectin deposits 2" "Any fibronectin glomerulopathy in which the cause of the disease is a mutation in the FN1 gene." "" + "lymphedema-atrial septal defects-facial changes syndrome" "Lymphedema-atrial septal defects-facial changes syndrome is characterised by congenital lymphoedema of the lower limbs, atrial septal defect and a characteristic facies (a round face with a prominent forehead, a flat nasal bridge with a broad nasal tip, epicanthal folds, a thin upper lip and a cleft chin). It has been described in two brothers and a sister. Transmission appears to be autosomal recessive." "" + "type 1 diabetes mellitus 6" "A type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 18q21." "" + "type 1 diabetes mellitus 10" "Any type 1 diabetes mellitus in which the cause of the disease is a mutation in the IL2RA gene." "" + "keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome" "Keratosis linearis-ichthyosis congenita-sclerosing keratoderma (KLICK) syndrome is an inherited epidermal disorder characterized by palmoplantar keratoderma, linear hyperkeratotic papules on the flexural side of large joints (cord-like distribution around wrists, in antecubital and popliteal folds), hyperkeratotic plaques (on neck, axillae, elbows, wrists, and knees), mild ichthyosiform scaling, and sclerotic constrictions around fingers that present flexural deformities." "" + "inherited non-syndromic ichthyosis" "A inherited ichthyosis that is not part of a larger syndrome." "" + "autosomal recessive limb-girdle muscular dystrophy type 2G" "Autosomal recessive limb-girdle muscular dystrophy type 2G (LGMD2G) is a mild subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a variable onset (ranging from infancy to adolescence) of progressive proximal upper and lower limb muscle weakness and atrophy. Mild scapular winging, calf hypertrophy, and lack of respiratory and cardiac involvement are also observed." "" + "qualitative or quantitative defects of telethonin" "" + "odonto-tricho-ungual-digito-palmar syndrome" "Odonto-tricho-ungual-digito-palmar syndrome is characterised by neonatal teeth, trichodystrophy and malformations of the hands and feet. To date, it has been reported in 21 patients and is transmitted as an autosomal dominant trait." "" + "otofacioosseous-gonadal syndrome" "" + "thrombocythemia 2" "Familial thrombocytosis in which the cause of the disease is a mutation in the MPL gene." "" + "hyperzincemia with functional zinc depletion" "" + "Friedreich ataxia 2" "Any Friedreich ataxia with the locus FRDA2, which has linkage to chromosome 9p23-p11" "" + "Friedreich ataxia" "An inherited condition that affects the nervous system and causes movement problems. People with this condition develop impaired muscle coordination (ataxia) that worsens over time. Other features include the gradual loss of strength and sensation in the arms and legs, muscle stiffness (spasticity), and impaired speech. Many individuals have a form of heart disease called hypertrophic cardiomyopathy. Some develop diabetes, impaired vision, hearing loss, or an abnormal curvature of the spine (scoliosis). Most people with Friedreich ataxia begin to experience the signs and symptoms around puberty." "" + "intestinal hypomagnesemia 1" "Primary hypomagnesemia with secondary hypocalcemia (PHSH) is a form of familial primary hypomagnesemia (FPH), characterized by severe hypomagnesemia and secondary hypocalcemia associated with neurological symptoms, including generalized seizures, tetany and muscle spasms. PHSH may be fatal or may result in chronic irreversible neurological complications." "" + "familial primary hypomagnesemia with normocalcuria" "Familial primary hypomagnesemia with normocalcuria (FPHN) is a form of familial primary hypomagnesemia (FPH) which is characterized by low magnesium values but normal calcium values in the serum. The disorder consists of three distinct forms which are: autosomal recessive primary hypomagnesemia with normocalcuria and hypocalcemia (ARPHN), familial primary hypomagnesemia with normocalcuria and normocalcemia (FPHNN) and isolated autosomal dominant hypomagnesemia, Glaudemans type." "" + "ectodermal dysplasia 4, hair/nail type" "Any pure hair and nail ectodermal dysplasia in which the cause of the disease is a mutation in the KRT85 gene." "" + "pure hair and nail ectodermal dysplasia" "Pure hair and nail ectodermal dysplasia is characterised by the association of onychodystrophy and severe hypotrichosis, which is mainly limited to the scalp but may also affect the eyelashes and eyebrows. Less than 20 cases have been reported so far. The mode of transmission is autosomal dominant." "" + "infantile convulsions and choreoathetosis" "Infantile Convulsions and paroxysmal ChoreoAthetosis (ICCA) syndrome is a neurological condition characterized by the occurrence of seizures during the first year of life (Benign familial infantile epilepsy) and choreoathetotic dyskinetic attacks during childhood or adolescence." "" + "paroxysmal dyskinesia" "Paroxysmal dyskinesia (PD) is a rare heterogenous group of movement disorders manifesting as abnormal involuntary movements that recur episodically and last only a brief time. PD includes paroxysmal kinesigenic dyskinesia (PKD), paroxysmal non-kinesigenic dyskinesia (PNKD), paroxysmal exertion-induced dyskinesia (PED) and a variant form of PKD, infantile convulsion and choreoathetosis (ICCA syndrome)." "" + "benign partial infantile seizures" "" + "leishmaniasis, tegumentary, susceptibility to" "" + "broad terminal phalanges, familial" "" + "fibrosis of extraocular muscles, congenital, 2" "Any congenital fibrosis of extraocular muscles in which the cause of the disease is a mutation in the PHOX2A gene." "" + "trimethylaminuria" "A rare inborn error of metabolism characterized by the presence of large amounts of trimethylamine in urine, sweat, and breath, resulting in a fishy body odor in affected individuals." "" + "dimethylglycine dehydrogenase deficiency" "An extremely rare autosomal recessive glycine metabolism disorder characterized clinically in the single reported case to date by muscle fatigue and a fish-like odor. This is an n-of-1 use case where only one patient or family has been described with this disorder." "" + "Paget disease of bone 2, early-onset" "" + "childhood apraxia of speech" "" + "Thiel-Behnke corneal dystrophy" "Thiel-Behnke corneal dystrophy (TBCD) is a rare form of superficial corneal dystrophy characterized by sub-epithelial honeycomb-shaped corneal opacities in the superficial cornea, and progressive visual impairment." "" + "Usher syndrome type 1F" "A form of Usher syndrome type IF that can be caused by homozygous or compound heterozygous mutation in the protocadherin-15 gene (PCDH15) on chromosome 10q. It is inherited in an autosomal recessive manner." "" + "polydactyly, postaxial, type A2" "" + "arrhythmogenic right ventricular dysplasia 3" "An arrhythmogenic right ventricular dysplasia associated with variation in the region 14q12-q22." "" + "arrhythmogenic right ventricular dysplasia 4" "An arrhythmogenic right ventricular dysplasia associated with variation in the region 2q32.1-q32.3." "" + "nephronophthisis 2" "Any nephronophthisis in which the cause of the disease is a mutation in the INVS gene." "" + "capillary infantile hemangioma" "" + "autosomal recessive nonsyndromic hearing loss 18A" "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the USH1C gene." "" + "cone dystrophy 3" "Any cone dystrophy in which the cause of the disease is a mutation in the GUCA1A gene." "" + "Alzheimer disease 5" "" + "Usher syndrome type 1E" "A form of Usher syndrome type I that features a novel locus for USH1, USH1E, mapping to chromosome band 21q21. It is inherited in an autosomal recessive manner." "" + "amyotrophic lateral sclerosis type 5" "Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the SPG11 gene." "" + "hereditary thermosensitive neuropathy" "Hereditary thermosensitive neuropathy is a rare, demyelinating, hereditary motor and sensory neuropathy characterized by reversible episodes of ascending muscle weakness, paresthesias and areflexia triggered by a febrile episode, with or without pressure palsy." "" + "spondyloepimetaphyseal dysplasia, Missouri type" "Spondyloepimetaphyseal dysplasia, Missouri type is characterized by moderate-to-severe metaphyseal changes, mild epiphyseal involvement, rhizomelic shortening of the lower limbs with bowing of the femora and/or tibiae, coxa vara, genu varum and pear-shaped vertebrae in childhood." "" + "nephropathy, progressive tubulointerstitial, with cholestatic liver disease" "" + "primary sclerosing cholangitis" "Primary sclerosing cholangitis (PSC) is a rare, slowly progressive liver disease characterized by inflammation and destruction of the intra- and/or extra-hepatic bile ducts that lead to cholestasis, liver fibrosis, liver cirrhosis and ultimately liver failure." "" + "torsion dystonia 7" "A focal dystonia characterized by predomiantly cervical dystonia that has material basis in variation in the chromosome region 18p." "" + "tremor, hereditary essential, 2" "" + "RHYNS syndrome" "RHYNS syndrome is characterised by the association of retinitis pigmentosa, hypopituitarism, nephronophthisis, and skeletal dysplasia." "" + "Pierre Robin sequence with pectus excavatum and rib and scapular anomalies" "" + "obsolete cerebellar degeneration-related autoantigen 3" "" "true" + "medium chain 3-ketoacyl-Coa thiolase deficiency" "" + "ventriculomegaly with defects of the radius and kidney" "" + "xanthomatosis, susceptibility to" "" + "homozygous familial hypercholesterolemia" "" + "malignant atrophic papulosis" "Malignant atrophic papulosis (MAP) is a rare, chronic, thrombo-obliterative vasculopathy characterized by papular skin lesions with central porcelain-white atrophy and a surrounding teleangiectatic rim. Systemic lesions may affect the gastrointestinal tract and the central nervous system (CNS) and are potentially lethal." "" + "progeroid facial appearance with hand anomalies" "" + "mitochondrial intermembrane space protein Tim12, yeast, homolog of" "" + "axial spondylometaphyseal dysplasia" "Axial spondylometaphyseal dysplasia is a genetic disorder of bone growth. The term axial means towards the center of the body. Sphondylos is a Greek term meaning vertebra. Metaphyseal dysplasia refers to abnormalities at the ends of long bones.Axial spondylometaphyseal dysplasia primarily affects the bones of the chest, pelvis, spine,upper arms and upper legs, and results in shortened stature.For reasons not well understood,this rare skeletal dysplasia is also associated withearly and progressivevision loss. The underlying genetic cause of axial spondylometaphyseal dysplasia is currently unknown.It is thought to be inherited in an autosomal recessive fashion." "" + "sensorineural hearing loss, retinal pigment epithelium lesions, discolored teeth" "" + "Pierpont syndrome" "Pierpont syndrome is a rare subcutaneous tissue disorder characterized by axial hypotonia after birth, prolonged feeding difficulties, moderate to severe global developmental delay, seizures (in particular absence seizures), fetal digital pads, distinctive plantar fat pads anteromedial to the heels, deep palmar and plantar grooves. Additionally, distinct craniofacial dysmorphic features, notably a broad face with high forehead, high anterior hairline, narrow palpebral fissures that take on a crescent moon shape when smiling, broad nasal bridge and tip with anteverted nostrils, mild midfacial hypoplasia, long, smooth philtrum, thin upper lip vermillion, small, widely spaced teeth and flat occiput/microcephaly/brachycephaly, are also chararteristic. Over time, fat pads may become less prominent and disappear." "" + "progressive familial intrahepatic cholestasis type 3" "Progressive familial intrahepatic cholestasis type 3 (PFIC3), a type of progressive familial intrahepatic cholestasis (PFIC), is a late-onset hereditary disorder in bile formation that is hepatocellular in origin. Onset may occur from infancy to young adulthood." "" + "osteocraniostenosis" "Osteocraniostenosis is a lethal skeletal dysplasia characterized by a cloverleaf skull anomaly, facial dysmorphism, limb shortness, splenic hypo/aplasia and radiological anomalies including thin tubular bones with flared metaphyses and deficient calvarial mineralization." "" + "hemochromatosis type 2A" "Any hemochromatosis type 2 in which the cause of the disease is a mutation in the HJV gene." "" + "hemochromatosis type 2" "Hemochromatosis type 2 (juvenile) is the early-onset and most severe form of rare hereditary hemochromatosis (HH), a group of diseases characterized by excessive tissue iron deposition of genetic origin." "" + "desmosterolosis" "Desmosterolosis is a very rare sterol biosynthesis disorder characterized by multiple congenital anomalies, failure to thrive, and intellectual disability, with elevated levels of desmosterol." "" + "autosomal recessive congenital ichthyosis 11" "" + "Fried's tooth and nail syndrome" "" + "parkinson disease 3, autosomal dominant" "" + "Weyers ulnar ray/oligodactyly syndrome" "" + "glaucoma 1, open angle, D" "" + "amyotrophic lateral sclerosis type 4" "Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the SETX gene." "" + "monomelic amyotrophy" "Monomelic amyotrophy (MA) is a rare benign lower motor neuron disorder characterized by muscular weakness and wasting in the distal upper extremities during adolescence followed by a spontaneous halt in progression and a stabilization of symptoms." "" + "acquired motor neuron disease" "An instance of motor neuron disease that is acquired during the lifetime of the individual." "" + "severe combined immunodeficiency due to DCLRE1C deficiency" "Severe combined immunodeficiency (SCID) due to DCLRE1C deficiency is a type of SCID characterized by severe and recurrent infections, diarrhea, failure to thrive, and cell sensitivity to ionizing radiation." "" + "autosomal dominant nonsyndromic hearing loss 15" "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the POU4F3 gene." "" + "short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome" "" + "creases, infra-auricular cutaneous, with tall stature and advanced bone age" "" + "ethylmalonic encephalopathy" "Ethylmalonic acid encephalopathy (EE) is defined by elevated excretion of ethylmalonic acid (EMA) with recurrent petechiae, orthostatic acrocyanosis and chronic diarrhoea associated with neurodevelopmental delay, psychomotor regression and hypotonia with brain magnetic resonance imaging (MRI) abnormalities." "" + "ossification of the posterior longitudinal ligament of the spine" "A disorder characterized by benign depositions of calcium in the posterior longitudinal ligament. Signs and symptoms result from the compression of nerve roots and include motor and sensory disturbances in the lower and upper extremities, and pain in the neck and arms." "" + "febrile seizures, familial, 2" "" + "migraine, familial hemiplegic, 2" "Any familial or sporadic hemiplegic migraine in which the cause of the disease is a mutation in the ATP1A2 gene." "" + "Axenfeld-Rieger syndrome type 3" "Any Axenfeld-Rieger syndrome in which the cause of the disease is a mutation in the FOXC1 gene." "" + "anterior segment dysgenesis 3" "An iridogoniodysgenesis that results from alterations in the forkhead transcription factor gene (FOXC1)" "" + "auriculocondylar syndrome 1" "Any auriculocondylar syndrome in which the cause of the disease is a mutation in the GNAI3 gene." "" + "pelvic dysplasia-arthrogryposis of lower limbs syndrome" "" + "hyperinsulinism due to glucokinase deficiency" "Hyperinsulism due to glucokinase deficiency (HIGCK) is a form of diazoxide-sensitive diffuse hyperinsulinism, caused by a lowered threshold for insulin release, characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) and recurrent episodes of profound hypoglycemia induced by fasting and protein rich meals, requiring rapid and intensive treatment to prevent neurological sequelae." "" + "hyperlipidemia, combined, 1" "Any familial combined hyperlipidemia in which the cause of the disease is a mutation in the USF1 gene." "" + "chondrodysplasia punctata, brachytelephalangic, autosomal" "" + "colobomatous macrophthalmia-microcornea syndrome" "" + "major induction processes eye anomaly" "" + "megalencephaly-capillary malformation-polymicrogyria syndrome" "Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP) is a polymalfomative syndrome characterized by cutaneous capillary malformations, megalencephaly, cortical brain malformations (most distinctively polymicrogyria), abnormalities of somatic growth with body and brain asymmetry, developmental delay, and characteristic facial dysmorphism." "" + "overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes" "A disease caused by mosaic gain-of-function (GoF) of several genes in the MTOR pathway (MTOR, PIK3CA, PIK3R2 and AKT3) are functionally the same despite significant phenotypic variability. These GoF variants result in overgrowth due to an over-activation of key genes in this pathway. The phenotypic variability is generally attributed to the mosaic fraction and affected tissue types. For example, macrocephaly is noted if the variant is identified in the brain, but non symmetric overgrowth of that limb is noted when the variant is only present in the affected limb. The pathologies of the affected tissue often reveal similar characteristics such as cellular overgrowth. However, this is not always the case especially with focal cortical dysplasia. At times the characteristics pathologies are not present in the tissue but sampling biases are an issue. FCD resections often involve a very small area and so a very small amount of tissue is available for pathology and it is not guaranteed that lesional tissue is sent. Therefore, having a single disease term which can encompass the phenotypic variability yet provide a unifying molecular diagnosis name makes sense given the common functional mechanism." "" + "pseudoacromegaly with severe insulin resistance" "" + "Bartter disease type 4a" "Any Bartter syndrome in which the cause of the disease is a mutation in the BSND gene." "" + "grange syndrome" "Grange syndrome is characterised by stenosis or occlusion of multiple arteries (including the renal, cerebral and abdominal vessels), hypertension, brachysyndactyly, syndactyly, increased bone fragility, and learning difficulties or borderline intellectual deficit. Congenital heart defects were also reported in some cases." "" + "Marshall-Smith syndrome" "Marshall-Smith syndrome is a rare genetic disease characterized by tall stature and advanced bone age at birth." "" + "ichthyosis, hystrix-like, with hearing loss" "" + "megaconial type congenital muscular dystrophy" "" + "jejunal atresia with renal adysplasia" "" + "distal monosomy 13q" "Distal monosomy 13q is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 13, with a highly variable phenotype typically characterized by varying degrees of intellectual disability and developmental delay, as well as CNS malformations (e.g. holoprosencephaly, anencephaly, ventriculomegaly, Dandy-Walker malformation), ocular abnormalities (e.g. hypertelorism, microphthalmia, strabismus, aniridia, retinal dysplasia) and craniofacial dysmorphism (microcephaly, trigonocephaly, large and malformed ears, broad prominent nasal bridge, micrognathia). Cardiac, genitourinary, gastrointestinal and skeletal manifestations have also been reported." "" + "partial deletion of the long arm of chromosome 13" "A cytogenetic abnormality that refers to the allelic loss of all or part of the long arm of chromosome 13." "" + "torsion dystonia with onset in infancy" "A dystonia characterized by autosomal dominant inheritance of generalized dystonia with severe involvement of the legs, mild involvement of the face and arms, and onset in infancy." "" + "microcephaly, macrotia, and intellectual disability" "" + "facial dysmorphism, cleft palate, hearing loss, and camptodactyly" "" + "spondyloepimetaphyseal dysplasia, Shohat type" "Spondyloepimetaphyseal dysplasia congenita, Shohat type is characterized by severely disproportionate short stature, short limbs, small chest, short neck, thin lips, severe lumbar lordosis, marked genu varum, joint laxity, distended abdomen, mild hepatomegaly and splenomegaly." "" + "craniomicromelic syndrome" "Craniomicromelic syndrome is a very rare disorder characterized by intrauterine growth retardation, underossification of the skull with large fontanels, short limbs with absent phalanges and finger and toe syndactyly." "" + "brachydactyly, intraventricular septal defect, and deafness" "" + "mandibulofacial dysostosis-macroblepharon-macrostomia syndrome" "" + "emphysema, congenital, with deafness, penoscrotal web, and intellectual disability" "" + "MPI-CDG" "MPI-CDG is a form of congenital disorders of N-linked glycosylation, characterized by cyclic vomiting, profound hypoglycemia, failure to thrive, liver fibrosis, gastrointestinal complications (protein-losing enteropathy with hypoalbuminaemia, life-threatening intestinal bleeding of diffuse origin), and thrombotic events (protein C and S deficiency, low anti-thrombine III levels), whereas neurological development and cognitive capacity is usually normal. The clinical course is variable even within families. The disease is caused by loss of function of the gene MPI (15q24.1)." "" + "congenital disorder of glycosylation with intestinal involvement" "True" + "branchiootic syndrome 1" "Any branchiootic syndrome in which the cause of the disease is a mutation in the EYA1 gene." "" + "retinitis pigmentosa 22" "A retinitis pigmentosa that has material basis in variation in the chromosome region 16p12.3-p12.1." "" + "pancreatic lymphoma, familial" "An instance of pancreas lymphoma that is caused by an inherited modification of the individual's genome." "" + "spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability" "A spondyloepiphyseal dysplasia characterized by spondyloepiphyseal dysplasia, craniosynostosis, cataracts, cleft palate and intellectual deficit. This is an n-of-1 use case where only one patient or family has been described with this disorder." "" + "camptodactyly, myopia, and fibrosis of the medial rectus muscle of eye" "Camptodactyly-joint contractures-facial skeletal defects syndrome is characterised by the association of camptodactyly, multiple eye defects (fibrosis of the medial rectus muscle, severe myopia, ptosis and exophthalmos), scoliosis, flexion contractures and facial anomalies (arched eyebrows, facial asymmetry with an abnormal skull shape, a prominent nose, small mouth, low-set and dysplastic ears, and a low nuchal hairline)." "" + "skeletal dysplasia and progressive central nervous system degeneration, lethal" "" + "torsion dystonia 6" "Primary dystonia DYT6 type is characterized by focal, predominantly cranio-cervical dystonia with dysarthria and dysphagia, or limb dystonia in some cases." "" + "generalized isolated dystonia" "" + "tooth agenesis, selective, 2" "" + "myotonic dystrophy type 2" "Myotonic dystrophy type 2 (MD2), also known as proximal myotonic myopathy, is a very rare genetic multi-system disorder of late childhood or adult-onset characterized by mild myotonia, muscle weakness, and rarely cardiac conduction disorders." "" + "intellectual disability, severe, with spasticity and pigmentary tapetoretinal degeneration" "" + "renal tubular acidosis, distal, 3, with or without sensorineural hearing loss" "" + "psoriasis 2" "Any psoriasis in which the cause of the disease is a mutation in the CARD14 gene." "" + "prostate cancer, hereditary, 8" "" + "rigid spine muscular dystrophy 1" "An inherited muscular dystrophy caused by mutations in the SEPN1 gene. It is characterized by severe limitation in flexion of the dorsolumbar and cervical spine, due to contracture of the spinal extensors. It leads to loss of movement of the spine and the thoracic cage." "" + "rigid spine syndrome" "Rigid spine syndrome (RSS) is a slowly progressive childhood-onset congenital muscular dystrophy characterized by contractures of the spinal extensor muscles associated with abnormal posture (limitation of neck and trunk flexure), progressive scoliosis of the spine, early marked cervico-axial muscle weakness with relatively preserved strength and function of the extremities and progressive respiratory insufficiency." "" + "SELENON-related myopathy" "Myopathy caused by pathogenic variants in SELENON that is congenital or present early in childhood with neonatal hypotonia, delayed motor development, axial muscle weakness, scoliosis, and significant respiratory involvement. Spinal rigidity of varying severity is often present." "" + "retinitis pigmentosa 25" "Any retinitis pigmentosa in which the cause of the disease is a mutation in the EYS gene." "" + "H syndrome" "H syndrome is a systemic inherited histiocytosis, with characteristic cutaneous findings accompanying systemic manifestations. H syndrome refers to the major clinical findings of hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and occasionally, hyperglycemia/diabetes mellitus. Due to overlapping clinical features, H syndrome is now considered to include pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome (PHID), Faisalabad histiocytosis (FHC) and familial sinus histiocytosis with massive lymphadenopathy (FSHML)." "" + "Muenke syndrome" "Muenke syndrome is a syndromic craniosynostosis with significant phenotypic variability, usually characterized by coronal synostosis, midfacial retrusion, strabismus, hearing loss and developmental delay." "" + "acromesomelic dysplasia, Maroteaux type" "A rare autosomal recessive acromesomelic dysplasia characterized by severe dwarfism (adult height >120 cm), both axial and appendicular involvement (shortening of the middle and distal segments of limbs and vertebral shortening), and with normal facial appearance and intelligence. It is a less severe form than acromesomelic dysplasia, Grebe type and acromesomelic dysplasia, Hunter-Thomson type." "" + "orofacial cleft 2" "" + "obsolete leukoregulin" "" "true" + "obsolete bile duct cysts" "" "true" + "autosomal recessive nonsyndromic hearing loss 17" "An autosomal recessive nonsyndromic deafness that has material basis in variation between D7S2453 and D7S525 in the chromosome region 7q31." "" + "schizophrenia 6" "A schizophrenia that has material basis in an autosomal dominant mutation of SCZD6 on chromosome 8p21." "" + "congenital myasthenic syndrome 5" "Congenital myasthenic syndrome caused by mutation(s) in the COLQ gene, encoding acetylcholinesterase collagenic tail peptide. It is inherited in an autosomal recessive manner." "" + "synaptic congenital myasthenic syndrome" "" + "tumor suppressor gene on chromosome 11" "" + "mitochondrial DNA depletion syndrome 1" "" + "age related macular degeneration 1" "An age related macular degeneration associated with polymorphism in the hemicentin gene (HMCN1) on chromosome 1q25.3-q31.1." "" + "autosomal recessive nonsyndromic hearing loss 13" "An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 7q34-q36." "" + "craniosynostosis-anal anomalies-porokeratosis syndrome" "Craniosynostosis - anal anomalies - porokeratosis, or CDAGS, is a very rare condition characterized by craniosynostosis and clavicular hypoplasia, (C), delayed closure of the fontanel (D), anal anomalies (A), genitourinary malformations (G) and skin eruption (S)." "" + "spastic paraplegia, optic atrophy, microcephaly, and 10Y sex reversal" "" + "apraxia of eyelid opening" "" + "dislocated elbows, bowed tibias, scoliosis, deafness, cataract, microcephaly, and intellectual disability" "" + "congenital disorder of glycosylation type 1C" "A form of congenital disorders of N-linked glycosylation characterized by feeding problems, mild-to-moderate neurologic involvement with hypotonia, poor head control, developmental delay, ataxia, strabismus, and seizures, ranging from febrile convulsions to epilepsy. Retinal degeneration has also been reported. A minority of patients show other manifestations, particularly intestinal (such as protein-losing enteropathy) and liver involvement. The disease is caused by loss of function mutations of the gene ALG6 (1p31.3)." "" + "dermatitis, atopic" "" + "obsolete Homocysteinemia" "" "true" + "schizophrenia 5" "A schizophrenia that has material basis in a mutation on chromosome 6q13-q26." "" + "schizophrenia 7" "A schizophrenia that has material basis in an autosomal dominant mutation of SCZD7 on chromosome 13q32." "" + "Meckel syndrome, type 2" "Any Meckel syndrome in which the cause of the disease is a mutation in the TMEM216 gene." "" + "autosomal dominant nocturnal frontal lobe epilepsy 2" "An autosomal dominant nocturnal frontal lobe epilepsy that has material basis in variation in the chromosome region 15q24." "" + "schizophrenia 8" "A schizophrenia that has material basis in an autosomal dominant mutation of SCZD8 on chromosome 18p." "" + "Huntington disease-like 1" "Any neurodegenerative disease with chorea in which the cause of the disease is a mutation in the PRNP gene." "" + "myopia 3, autosomal dominant" "" + "pseudohypoparathyroidism type 1B" "Pseudohypoparathyroidism type 1B (PHP-1b) is a type of pseudohypoparathyroidism (PHP) characterized by localized resistance to parathyroid hormone (PTH) mainly in the renal tissues which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels. About 60-70% of patients also present with elevated TSH levels due to TSH resistance." "" + "type 1 diabetes mellitus 17" "A type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 10q25." "" + "focal segmental glomerulosclerosis 1" "Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the ACTN4 gene." "" + "cerebral cavernous malformation 2" "Any familial cerebral cavernous malformation in which the cause of the disease is a mutation in the CCM2 gene." "" + "famililal cerebral cavernous malformations" "A rare evolutive vascular malformation disorder characterized by closely clustered irregular dilated capillaries that can be asymptomatic or that can cause variable neurological manifestations such as seizures, non-specific headaches, progressive or transient focal neurologic deficits, and/or cerebral hemorrhages." "" + "muscular dystrophy, congenital, with cerebellar atrophy" "" + "schizophrenia 2" "A schizophrenia that has material basis in an autosomal dominant mutation of SCZD2 on chromosome 11q14-q21." "" + "gracile syndrome" "GRACILE syndrome is an inherited lethal mitochondrial disorder characterized by fetal growth restriction (GR), aminoaciduria (A), cholestasis (C), iron overload (I), lactacidosis (L), and early death (E)." "" + "familial gestational hyperthyroidism" "" + "hypertension, pregnancy-induced" "A hypertensive disorder that develops during pregnancy." "" + "long chain fatty acids, defect in transport of" "" + "glaucoma 1, open angle, F" "" + "thyroid carcinoma, nonmedullary, with or without cell oxyphilia" "" + "megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1" "Any megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome in which the cause of the disease is a mutation in the PIK3R2 gene." "" + "megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome" "Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome is characterized by megalencephaly, polymicrogyria, and hydrocephalus with variable polydactyly. It has been described in six unrelated patients. Intellectual deficit or slow development is also present. The mode of inheritance of this syndrome is unknown since all cases were sporadic." "" + "Graves disease, susceptibility to, 2" "" + "Osebold skeletal dysplasia/osteolysis syndrome" "" + "osteosclerotic chondrodysplasia, lethal, with intracellular inclusions" "" + "microcephaly, severe, with skeletal anomalies including posterior rib-Gap defects" "" + "Tonoki syndrome" "" + "activator of liver function 1" "" + "radioulnar synostosis-microcephaly-scoliosis syndrome" "Radioulnar synostosis-microcephaly-scoliosis syndrome, also known as GuiffrC)-Tsukahara syndrome, is an extremely rare syndrome characterized by the association of radioulnar synostosis with microcephaly, scoliosis, short stature and intellectual deficit." "" + "expansile bone lesions" "" + "Oroacral syndrome, Verloes-Koulischer type" "" + "arhinia, choanal atresia, and microphthalmia" "" + "obsolete hypospadias, hypertelorism, upper 51D coloboma, and mixed-type hearing loss" "" "true" + "Fanconi anemia complementation group F" "Fanconi anemia caused by mutations of the FANCF gene. This gene encodes a polypeptide with homology to the prokaryotic RNA-binding protein ROM." "" + "citrullinemia, type II, adult-onset" "Adult-onset citrullinemia type II is an inherited disorder that causes ammonia and other toxic substances to accumulate in the blood. The condition chiefly affects the nervous system, causing confusion, restlessness, memory loss, abnormal behaviors (such as aggression, irritability, and hyperactivity), seizures, and coma. These signs and symptoms can be life-threatening. The signs and symptoms appear during adulthood and are triggered by certain medications, infections, surgery, and alcohol intake.The features of adult-onset type II citrullinemia may also develop in people who as infants had a liver disorder called neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD). In many cases, the signs and symptoms of NICCD resolve within a year. Years or even decades later, however, some of these people develop the characteristic features of adult-onset type II citrullinemia.adult-onset citrullinemia type II is caused by mutations in the SLC25A13 gene. This condition is inherited in an autosomal recessive pattern." "" + "citrullinemia type II" "Citrullinemia type II is a severe subtype of citrin deficiency characterized clinically by adult onset (20 and 50 years of age), recurrent episodes of hyperammonemia and associated neuropsychiatric symptoms such as nocturnal delirium, confusion, restlessness, disorientation, drowsiness, memory loss, abnormal behavior (aggression, irritability, and hyperactivity), seizures, and coma." "" + "neuronal intranuclear inclusion disease" "Neuronal intranuclear inclusion disease (NIID) is a very rare multisystem neurodegenerative disorder characterized by the presence of eosinophilic intranuclear inclusions in neuronal and glial cells, and neuronal loss." "" + "obsolete autosomal dominant limb-girdle muscular dystrophy type 1E" "" "true" + "obsolete cerebral palsy, spastic quadriplegic, 1" "" "true" + "spinocerebellar ataxia type 10" "Spinocerebellar ataxia type 10 (SCA10) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by slowly progressive cerebellar syndrome and epilepsy, sometimes mild pyramidal signs, peripheral neuropathy and neuropsychological disturbances." "" + "congenital chylothorax" "Congenital chylothorax is a rare, potentially life-threatening neonatal condition characterized by the accumulation of chyle within the pleural space leading to respiratory distress, malnutrition and immunological compromise, either immediately after birth or within the first few weeks of life. Congenital chylothorax is the most common cause of pleural effusion in neonates; it can occur primarily due to developmental anomalies of the lymphatic duct or can be associated with chromosomal anomalies (e.g. Noonan syndrome, Turner syndrome and Down syndrome), hydrops fetalis, mediastinal neuroblastoma and other congenital malformations." "" + "Dyserythropoiesis, congenital, with ultrastructurally normal erythroblast heterochromatin" "" + "light fixation seizure syndrome" "" + "limb-mammary syndrome" "Limb-mammary syndrome (LMS) is a rare disease belonging to the group of ectodermal dysplasias." "" + "spondyloepimetaphyseal dysplasia with multiple dislocations" "A rare disorder caused by mutation in the KIF22 gene. It is characterized by short stature, midface retrusion, progressive knee malalignment, generalized ligamentous laxity, and mild spinal deformity." "" + "familial hemophagocytic lymphohistiocytosis 4" "Any genetic hemophagocytic lymphohistiocytosis in which the cause of the disease is a mutation in the STX11 gene." "" + "familial hemophagocytic lymphohistiocytosis 2" "Any genetic hemophagocytic lymphohistiocytosis in which the cause of the disease is a mutation in the PRF1 gene." "" + "Omenn syndrome" "An inflammatory condition characterized by erythroderma, desquamation, alopecia, chronic diarrhea, failure to thrive, lymphadenopathy, and hepatosplenomegaly, associated with severe combined immunodeficiency (SCID)." "" + "hereditary spastic paraplegia 8" "Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the WASHC5 gene." "" + "autosomal dominant pure spastic paraplegia" "Autosomal dominant form of pure hereditary spastic paraplegia." "" + "congenital tracheal stenosis" "" + "tracheal anomaly" "" + "microcephaly, facial abnormalities, micromelia, and intellectual disability" "" + "SLC35A1-CDG" "SLC35A1-CDG is an extremely rare form of CDG syndrome characterized clinically in the single reported case by repeated hemorrhagic incidents, including severe pulmonary hemorrhage." "" + "follicular atrophoderma, perioral pigmented, with milia and epidermoid cysts" "" + "parotitis, juvenile recurrent" "" + "facial dysmorphism, selective tooth agenesis, and choroid calcification" "" + "xanthinuria type II" "Type II xanthinuria, a type of classical xanthinuria, is a rare autosomal recessive disorder of purine metabolism characterized by the deficiency of both xanthine dehydrogenase and aldehyde oxidase, leading to the formation of urinary xanthine urolithiasis and leading, in some patients, to kidney failure. Other less common manifestations include arthropathy, myopathy and duodenal ulcer, while some patients remain asymptomatic." "" + "craniosynostosis with ectopia lentis" "" + "polydactyly" "A disease characterized by the presence of polydactyly, including syndromic and non-syndromic forms." "" + "non-syndromic polydactyly, syndactyly and/or hyperphalangy" "" + "osteoma of cranial vault, familial" "" + "autosomal dominant nonsyndromic hearing loss 17" "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the MYH9 gene." "" + "autosomal recessive nonsyndromic hearing loss 21" "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the TECTA gene." "" + "neuroendocrine carcinoma of salivary glands, sensorineural hearing loss, and enamel hypoplasia" "" + "atrial septal defect, secundum, with various cardiac and Noncardiac defects" "" + "situs inversus totalis with cystic dysplasia of kidneys and pancreas" "" + "cone-rod dystrophy 7" "Any cone-rod dystrophy in which the cause of the disease is a mutation in the RIMS1 gene." "" + "exostosis, Dupuytren subungual" "" + "eccrine syringofibroadenomatosis with eyelid abnormalities" "" + "syringofibroadenoma" "A rare, benign eccrine neoplasm usually arising on acral areas as a solitary papular or nodular lesion. Multiple lesions are referred as syringofibroadenomatosis. It is characterized by the presence of epithelial cuboidal cells forming anastomosing cords in a fibrovascular stroma." "" + "blue nevi, familial multiple" "" + "acromelic frontonasal dysostosis" "Acromelic frontonasal dysplasia (AFND) is a rare variant of frontonasal dysplasia characterized by distinct craniofacial (large fontanelle, hypertelorism, bifid nasal tip, nasal clefting, brachycephaly, median cleft face, carp-shaped mouth), brain (interhemispheric lipoma, agenesis of the corpus callosum), and limb (tibial hypoplasia/aplasia, club foot, symmetric preaxial polydactyly of the feet and bilateral clubbed and thickened nails of halluces) malformations as well as intellectual disability. Other manifestations sometimes reported include absent olfactory bulbs, hypopituitarism and cryptorchidism." "" + "autosomal recessive nonsyndromic hearing loss 14" "An autosomal recessive nonsyndromic deafness that has material basis in variation between D7S554 and D7S2459 in the chromosome region 7q31." "" + "prostate cancer/brain cancer susceptibility" "" + "myopathy, myofibrillar, 9, with early respiratory failure" "" + "TTN-related myopathy" "A disorder of the musculoskeletal system caused by pathogenic variants in the TTN gene encoding the titin protein expressed in striated muscle. These variants are associated with a variety of overlapping congenital and adult-onset myopathies characterized by non-progressive or progressive neck, axial, and limb weakness, joint contractures, early-onset respiratory insufficiency, facial weakness, congenital cardiac anomalies and/or early-onset dilated cardiomyopathy. Histologic findings on skeletal muscle biopsy reveal a wide range of structural abnormalities and can include increased internalized and central nuclei, minicores, and dystrophic changes." "" + "diabetes mellitus, noninsulin-dependent, 3" "" + "autosomal recessive nonsyndromic hearing loss 16" "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the STRC gene." "" + "blepharophimosis - intellectual disability syndrome, SBBYS type" "Blepharophimosis-intellectual disability syndrome, SBBYS type is characterised by the association of congenital hypothyroidism, facial dysmorphism (microcephaly, blepharophimosis, a bulbous nose, thin lip, low-set ears and micrognathia), postaxial polydactyly and severe intellectual deficit. Less than 20 cases have been reported so far. Cryptorchidism is present in affected males. Some patients also have cardiac anomalies (interventricular communication), hypotonia and growth delay. Autosomal recessive inheritance has been suggested." "" + "Acrodysplasia with ossification abnormalities, short stature, and fibular hypoplasia" "A hereditary disorder characterized by disproportionate short stature, a relatively large head, and a long triangular face early in life. This phenotype later evolves to one with in which the head is relatively small, the mandible is large and pointy. The affected individuals have normal cognitive abilities and lack any neurological deficits. Other typical features include a prominent nose, a voice with an unusual high-pitched sound, relatively small ears, curved digits (clinodactyly), short bones in fingers and toes (brachydactyly), small hands, underdeveloped (hypoplastic) fingernails, a waddling gait, and sparse hair post-pubertally." "" + "papillary thyroid Microcarcinoma" "A papillary carcinoma of the thyroid gland measuring 10mm or less in diameter. The survival rates of patients with this type of carcinoma are the same with those of the normal population." "" + "hypercholesterolemia, autosomal dominant, 3" "Any familial hypercholesterolemia in which the cause of the disease is a mutation in the PCSK9 gene." "" + "Stargardt disease 4" "Any Stargardt disease in which the cause of the disease is a mutation in the PROM1 gene." "" + "hydroa vacciniforme, familial" "An instance of hydroa vacciniforme that is caused by an inherited modification of the individual's genome." "" + "hydroa vacciniforme" "A rare skin disorder of unknown etiology affecting children. It is a photodermatitis, characterized by the formation of vesicles and scarring on sun exposed areas." "" + "microcephaly with simplified gyral pattern" "" + "urinary tract infections, recurrent, susceptibility to" "" + "hypercholesterolemia, familial, 4" "An autosomal recessive condition caused by mutation(s) in the LDLRAP1 gene, encoding low density lipoprotein receptor adaptor protein 1. The phenotype is similar to that of familial hypercholesterolemia, but generally considered to be a milder form of hypercholesterolemia." "" + "brittle bone disorder" "" + "ventricular fibrillation, paroxysmal familial, type 1" "" + "paroxysmal familial ventricular fibrillation" "A rare, genetic, cardiac rhythm disease characterized by ventricular fibrillation in the absence of any structural or functional heart disease, or known repolarization abnormalities. The presence of J waves is associated with a higher risk of nocturnal ventricular fibrillation events and a higher risk of recurrence." "" + "long QT syndrome 3" "An autosomal dominant condition caused by mutation(s) in the SCN5A gene, encoding sodium channel protein type 5 subunit alpha. It is characterized by a prolonged QT interval that may result in torsade de pointes, ventricular fibrillation and/or sudden cardiac death." "" + "obsolete CFM1" "" "true" + "obsolete medullary cystic kidney disease 2" "" "true" + "leukoencephalopathy with vanishing white matter" "A new leukoencephalopathy, the CACH syndrome (Childhood Ataxia with Central nervous system Hypomyelination) or VWM (Vanishing White Matter) was identified on clinical and MRI criteria. Classically, this disease is characterized by (1) an onset between 2 and 5 years of age, with a cerebello-spastic syndrome exacerbated by episodes of fever or head trauma leading to death after 5 to 10 years of disease evolution, (2) a diffuse involvement of the white matter on cerebral MRI with a CSF-like signal intensity (cavitation), (3) a recessive autosomal mode of inheritance, (4) neuropathologic findings consistent with a cavitating orthochromatic leukodystrophy with increased number of oligodendrocytes with sometimes ``foamy'' aspect." "" + "dominant beta-thalassemia" "Dominant beta-thalassemia is a form of beta-thalassemia resulting in moderate to severe anemia." "" + "sickle cell disease and related diseases" "" + "hematological disorder with renal involvement" "True" + "autoimmune lymphoproliferative syndrome type 2A" "A rare, primary immunodeficiency with an autosomal dominant pattern of inheritance but incomplete penetrance. It is caused by a mutation in the CASP10 (caspase-10) gene that leads to defective Fas-induced apoptosis. Disruption of Fas-induced apoptosis impairs lymphocyte homeostasis and immune tolerance. Characteristic laboratory findings include an increase in circulating, double-negative (CD4-/CD8-) T cells in the setting of immune-mediated anemia, thrombocytopenia and neutropenia. Clinical signs present in childhood include fatigue, pallor, bruising, hepatosplenomegaly and chronic, non-malignant, non-infectious lymphadenopathy. The clinical course is influenced by a strong association with other autoimmune disorders and an increased risk for developing Hodgkin and non-Hodgkin lymphoma." "" + "hypertension, essential, susceptibility to, 1" "" + "intervertebral disc degenerative disorder" "Any disease of a degenerative nature that affects the intervertebral disc." "" + "microvascular complications of diabetes, susceptibility to, 1" "Any microvascular complications of diabetes, susceptibility in which the cause of the disease is a mutation in the VEGFA gene." "" + "psoriasis 4, susceptibility to" "" + "obsolete cervical cancer" "" "true" + "autosomal dominant nonsyndromic hearing loss 16" "An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 2q23-q24.3." "" + "focal segmental glomerulosclerosis 2" "Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the TRPC6 gene." "" + "megalencephalic leukoencephalopathy with subcortical cysts" "Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a form of leukodystrophy that is characterized by infantile-onset macrocephaly, often with mild neurologic signs at presentation (such as mild motor delay), which worsen with time, leading to poor ambulation, falls, ataxia, spasticity, increasing seizures and cognitive decline. Brain magnetic resonance imaging reveals diffusely abnormal and mildly swollen white matter as well as subcortical cysts in the anterior temporal and frontoparietal regions." "" + "autosomal recessive nonsyndromic hearing loss 20" "An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 11q25-qter." "" + "hypoalphalipoproteinemia, primary, 1" "Any ypoalphalipoproteinemia in which the cause of the disease is a mutation in the ABCA1 gene." "" + "apolipoprotein A-I deficiency" "A rare lipoprotein metabolism disorder characterized biochemically by complete absence of apolipoprotein AI and extremely low plasma high density lipoprotein (HDL) cholesterol, and clinically by corneal opacities and xanthomas complicated with premature coronary heart disease (CHD)." "" + "obsolete keratosis pilaris atrophicans" "" "true" + "cone-rod dystrophy 3" "Any cone-rod dystrophy in which the cause of the disease is a mutation in the ABCA4 gene." "" + "keratoderma hereditarium mutilans with ichthyosis" "Keratoderma hereditarium mutilans with ichthyosis is a diffuse palmoplantar keratoderma, characterized by honeycomb palmoplantar hyperkeratosis associated with pseudoainhum of the fifth digit of the hand, ichthyosis and deafness. Keratoderma hereditarium mutilans with ichthyosis follows an autosomal dominant mode of transmission." "" + "autosomal dominant cerebellar ataxia, deafness and narcolepsy" "Autosomal dominant cerebellar ataxia, deafness and narcolepsy (ADCA-DN) is a polymorphic disorder and a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1) characterized by ataxia, sensorineural deafness and narcolepsy with cataplexy and dementia." "" + "dystrophic epidermolysis bullosa pruriginosa" "Dystrophic epidermolysis bullosa pruriginosa is a rare subtype of dystrophic epidermolysis bullosa (DEB) characterized by generalized or localized skin lesions associated with severe, if not intractable, pruritus." "" + "alpha thalassemia" "Alpha-thalassemia is an inherited hemoglobinopathy characterized by impaired synthesis of alpha-globin chains leading to a variable clinical picture depending on the number of affected alleles." "" + "alpha-thalassemia and related diseases" "" + "dilated cardiomyopathy 1G" "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the TTN gene." "" + "Alzheimer disease without neurofibrillary tangles" "" + "congenital cataracts-facial dysmorphism-neuropathy syndrome" "Congenital Cataracts Facial Dysmorphism Neuropathy (CCFDN) syndrome is a complex developmental disorder of autosomal recessive inheritance." "" + "partial duplication of the short arm of chromosome 16" "Chromosome 16p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 16. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 16p duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Most cases are not inherited, but people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person." "" + "left ventricular noncompaction 1" "Any left ventricular noncompaction in which the cause of the disease is a mutation in the DTNA gene." "" + "Caronte" "" + "poikiloderma with neutropenia" "A skin disease characterized by poikiloderma, hyperkeratotic nails, generalized hyperkeratosis on palms and soles, neutropenia, short stature, and recurrent pulmonary infections. It has material basis in mutation in the C16ORF57 gene on chromosome 16q13." "" + "cholesteatoma, congenital" "" + "facial paresis, hereditary congenital, 2" "" + "congenital hereditary facial paralysis-variable hearing loss syndrome" "Congenital hereditary facial paralysis-variable hearing loss syndrome is an extremely rare autosomal recessive disorder characterized by bilateral facial palsy with masked facies, sensorineural hearing loss, dysmorphic features (midfacial retrusion, low-set ears), and strabismus." "" + "hereditary spastic paraplegia 10" "Autosomal dominant spastic paraplegia type 10 (SPG10) is a rare type of hereditary spastic paraplegia that can present as either a pure form of spastic paraplegia with lower limb spasticity, hyperreflexia and extensor plantar responses, presenting in childhood or adolescence, or as a complex phenotype associated with additional manifestations including peripheral neuropathy with upper limb amyotrophy, moderate intellectual disability and parkinsonism. Deafness and retinitis pigmentosa were reported in one case." "" + "hepatic fibrosis, severe, susceptibility to, due to Schistosoma mansoni infection" "" + "Hirschsprung disease with heart defects, laryngeal anomalies, and preaxial polydactyly" "" + "Chudley-McCullough syndrome" "" + "familial encephalopathy with neuroserpin inclusion bodies" "" + "cataract 9 multiple types" "Any cataract (disease) in which the cause of the disease is a mutation in the CRYAA gene." "" + "Peters anomaly" "Peters anomaly (PA) is a congenital corneal opacity disorder characterized by a central corneal leukoma that obstructs the pupil leading to visual loss as well as absence of the posterior corneal stroma and Descemet membrane." "" + "corneoiridogoniodysgenesis" "" + "Leber congenital amaurosis 3" "Any Leber congenital amaurosis in which the cause of the disease is a mutation in the SPATA7 gene." "" + "generalized epilepsy with febrile seizures plus, type 1" "" + "generalized epilepsy with febrile seizures plus" "A familial epilepsy syndrome in which family members display a seizure disorder from the generalized epilepsy with febrile seizures plus spectrum which ranges from simple febrile seizures (FS) to the more severe phenotype of myoclonic-astatic epilepsy (MAE) or Dravet syndrome (DS)." "" + "hemochromatosis type 3" "Type 3 hemochromatosis is a form of rare hereditary hemochromatosis (HH), a group of diseases characterized by excessive tissue iron deposition of genetic origin." "" + "dyslexia, susceptibility to, 3" "" + "camera-Marugo-Cohen syndrome" "" + "short stature due to partial GHR deficiency" "Short stature due to partial GHR deficiency is a rare, genetic, endocrine disease characterized by idiopathic short stature due to diminished GHR function (decreased ligand binding or reduced availability of receptor), thus resulting in partial insensitivity to growth hormone." "" + "mitochondrial complex V (ATP synthase) deficiency, nuclear type 1" "Any mitochondrial proton-transporting ATP synthase complex deficiency in which the cause of the disease is a mutation in the ATPAF2 gene." "" + "mitochondrial proton-transporting ATP synthase complex deficiency" "A rare, genetic, mitochondrial oxidative phosphorylation disorder that may present with a wide range of symptoms (including muscular hypotonia, hypertrophic cardiomyopathy, psychomotor delay, encephalopathy, peripheral neuropathy, lactic acidosis, 3-methylglutaconic aciduria) and clinical syndromes (including NARP and MILS)." "" + "autosomal recessive proximal renal tubular acidosis" "Autosomal recessive proximal renal tubular acidosis (AR pRTA) is a rare form of proximal renal tubular acidosis (pRTA) characterized by an isolated defect in the proximal tubule leading to the decreased reabsorption of bicarbonate and consequentially to urinary bicarbonate wastage along with additional characteristic clinical features." "" + "autosomal recessive limb-girdle muscular dystrophy type 2E" "Autosomal recessive limb girdle muscular dystrophy type 2E (LGMD2E) is a subtype of autosomal recessive limb girdle muscular dystrophy characterized by a childhood to adolescent onset of progressive pelvic- and shoulder-girdle muscle weakness, particularly affecting the pelvic girdle (adductors and flexors of hip). Usually the knees are the earliest and most affected muscles. In advanced stages, involvement of the shoulder girdle (resulting in scapular winging) and the distal muscle groups are observed. Calf hypertrophy, cardiomyopathy, respiratory impairment, tendon contractures, scoliosis, and exercise-induced myoglobinuria may be observed." "" + "qualitative or quantitative defects of beta-sarcoglycan" "" + "Carney triad" "Carney's triad is a rare non-hereditary condition characterized by gastrointestinal stromal tumors (GIST, intramural mesenchymal tumors of the gastrointestinal tract with neuronal or neural crest cell origin), pulmonary chondromas and extraadrenal paragangliomas." "" + "gastrointestinal stromal tumor" "Gastrointestinal stromal tumor (GIST) is the most common mesenchymal neoplasm of the gastrointestinal (GI) tract, typically presenting in adults over the age of 40 (mean age 63), and only rarely in children, in various regions of the GI tract, most commonly the stomach or small intestine but also less commonly in the esophagus, appendix, rectum and colon. GISTs can be asymptomatic or present with various non-specific signs, depending on the location and size of tumor, such as loss of appetite, anemia, weight loss, fatigue, abdominal discomfort or fullness, nausea, vomiting, as well as an abdominal mass, blood in stool, and intestinal obstruction. GISTs can also be seen in familial syndromes such as Carney triad and neurofibromatosis type 1." "" + "dilated cardiomyopathy 1H" "A dilated cardiomyopathy that has material basis in variation in the chromosome region 2q14-q22." "" + "aceruloplasminemia" "Aceruloplasminemia is an adult-onset disorder of neurodegeneration with brain iron accumulation (NBIA) characterized by anemia, retinal degeneration, diabetes and various neurological symptoms." "" + "Ascaris lumbricoides infection, susceptibility to" "" + "ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3" "Any EEC syndrome in which the cause of the disease is a mutation in the TP63 gene." "" + "juvenile idiopathic arthritis" "Juvenile idiopathic arthritis (JIA) is the term used to describe a group of inflammatory articular disorders of unknown cause that begin before the age of 16 and last over 6 weeks. The term juvenile idiopathic arthritis was chosen to signify the absence of any known mechanism underlying the disorder and to highlight the necessity of excluding other types of arthritis occurring in well defined diseases (in particular arthritis occurring in association with infectious, inflammatory and haematooncologic diseases)." "" + "pulverulent cataract" "A cataract that has material basis in heterozygous mutation in the CRYGC gene on chromosome 2q33." "" + "MASS syndrome" "MASS (Mitral valve prolapse, Aortic enlargement, Skin and Skeletal findings) syndrome is a genetic disorder of connective tissue caused by mutations in the FBN1 gene. Connective tissue is the material between the cells of the body that gives tissues form and strength. Symptoms include mitral valve prolapse, nearsightedness, borderline and non-progressive aortic enlargement, and skin and skeletal findings that overlap with those seen in Marfan syndrome. Treatment is based on the individuals symptoms." "" + "blepharophimosis - intellectual disability syndrome, Verloes type" "" + "anemia, congenital hypoplastic, with multiple congenital anomalies/intellectual disability syndrome" "" + "psoriasis 5, susceptibility to" "" + "microcephaly 2, primary, autosomal recessive, with or without cortical malformations" "" + "autosomal recessive distal spinal muscular atrophy 1" "Spinal muscular atrophy with respiratory distress type 1 is a rare genetic motor neuron disease characterized by severe respiratory distress/respiratory failure in association with diaphragmatic eventration and palsy, as well as progressive, symmetrical, distal-to-proximal muscle weakness and atrophy (in lower limbs especially). Patients typically have a history of intrauterine growth retardation, low birth weight, feeble cry, weak suck and failure to thrive and present with inspiratory stridor, recurrent episodes of dyspnea or apnea, cyanosis and absent deep tendon reflexes. Kyphosis/scoliosis, foot deformities and joint contractures are frequently associated features." "" + "autosomal recessive distal hereditary motor neuropathy" "Autosomal recessive form of distal hereditary motor neuropathy." "" + "microcephaly 4, primary, autosomal recessive" "" + "spinocerebellar ataxia type 12" "Spinocerebellar ataxia type 12 (SCA12) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by the presence of action tremor associated with relatively mild cerebellar ataxia. Associated pyramidal and extrapyramidal signs and dementia have been reported." "" + "hypertension, essential, susceptibility to, 2" "" + "complex regional pain syndrome type 1" "Complex regional pain syndrome type 1 (CRPS1) is a form of complex regional pain syndrome in which the pain is disproportionate to any known inciting event and is characterized by continuous pain, allodynia, or hyperalgesia as well as edema, coloration (changes in skin blood flow), or abnormal sudomotor activity in the region of pain. Onset of CRPS1 symptoms may occur within a few days to a month after an injury or trauma to the affected limb." "" + "advanced sleep phase syndrome 1" "Any advanced sleep phase syndrome in which the cause of the disease is a mutation in the PER2 gene." "" + "advanced sleep phase syndrome" "Familial advanced sleep-phase syndrome (FASPS) is a very rare circadian rhythm sleep disorder characterized by very early sleep onset and offset possibly resulting in emotional and physical disruptions." "" + "febrile seizures, familial, 4" "Any febrile seizures, familial in which the cause of the disease is a mutation in the ADGRV1 gene." "" + "Duane retraction syndrome 2" "Any Duane retraction syndrome in which the cause of the disease is a mutation in the CHN1 gene." "" + "hereditary spastic paraplegia 11" "Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the SPG11 gene." "" + "myoclonic epilepsy, congenital deafness, macular dystrophy, and psychiatric disorders" "" + "obsolete epilepsy, familial focal, with variable foci" "" "true" + "PPARG-related familial partial lipodystrophy" "" + "Salla disease" "Salla disease is the mildest form of the free sialic acid storage disorders, which primarily affect the nervous system. Infants with Salla disease typically begin to experience poor muscle tone (hypotonia) during the first year of life,followed by slowly progressive neurological problems. Signs and symptoms include intellectual disability and developmental delay; seizures ; ataxia ; muscle spasticity; and involuntary slow movements of the limbs (athetosis). About one-third of affected children learn to walk. It is caused by mutations in the SLC17A5 gene and is inherited in an autosomal recessive manner. Treatment is generally symptomatic and supportive." "" + "breast-ovarian cancer, familial, susceptibility to, 1" "Any hereditary breast ovarian cancer syndrome in which the cause of the disease is a mutation in the BRCA1 gene." "" + "cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1" "Any fatal infantile encephalocardiomyopathy in which the cause of the disease is a mutation in the SCO2 gene." "" + "fatal infantile encephalocardiomyopathy" "Fatal infantile cytochrome C oxidase deficiency is a very rare mitochondrial disease characterized clinically by cardioencephalomyopathy resulting in death in infancy." "" + "hypotrichosis 7" "Any hypotrichosis in which the cause of the disease is a mutation in the LIPH gene." "" + "ulnar ray dysgenesis with postaxial polydactyly and renal cystic dysplasia" "" + "patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome" "Patent ductus arteriosus - bicuspid aortic valve - hand anomalies syndrome is a very rare heart-hand syndrome that is characterized by a variety of cardiovascular anomalies including patent arterial duct, bicuspid aortic valve and pseudocoarctation of the aorta in conjunction with hand anomalies such as brachydactyly and ulnar ray derivative i.e. fifth metacarpal hypoplasia. Transmission is most likely autosomal dominant." "" + "lissencephaly, familial, with cleft palate and cerebellar hypoplasia" "" + "nephronophthisis 3" "Any nephronophthisis in which the cause of the disease is a mutation in the NPHP3 gene." "" + "Leber congenital amaurosis 4" "Any Leber congenital amaurosis in which the cause of the disease is a mutation in the AIPL1 gene." "" + "AIPL1 retinopathy" "A retinopathy caused by biallelic variants in the AIPL1 gene." "" + "arrhythmogenic right ventricular dysplasia 5" "Any arrhythmogenic right ventricular cardiomyopathy in which the cause of the disease is a mutation in the TMEM43 gene." "" + "arrhythmogenic right ventricular dysplasia 6" "An arrhythmogenic right ventricular dysplasia associated with variation in the region 10p14-p12." "" + "generalized epilepsy with febrile seizures plus, type 2" "Any febrile seizures, familial in which the cause of the disease is a mutation in the SCN1A gene." "" + "pyogenic arthritis-pyoderma gangrenosum-acne syndrome" "A rare pleiotropic autoinflammatory disorder of childhood, primarily affecting the joints and skin." "" + "polyneuropathy, lethal neonatal, axonal sensorimotor, autosomal recessive" "A rare, genetic, autosomal recessive axonal hereditary motor and sensory neuropathy disease characterized by prenatal onset of a severe sensorimotor axonal polyneuropathy (reflected by reduced fetal movement and polyhydramnios), manifesting, at birth, with respiratory failure requiring mechanical ventilation, profound muscular hypotonia, rapidly progressing distal muscle weakness, and absent deep tendon reflexes, in the absence of contractures, leading to death before 8 months of age. Neuropathological findings show severe loss of large- and medium-sized myelinated fibers without signs of demyelination." "" + "spinocerebellar ataxia type 11" "Spinocerebellar ataxia type 11 (SCA11) is a subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by the early-onset of cerebellar signs, eye movement abnormalities and pyramidal signs." "" + "infundibulocystic basal cell carcinoma" "" + "distal myopathy, Welander type" "Welander distal myopathy (WDM) is a distal myopathy, characterized by weakness in the distal upper extremities, usually finger and wrist extensors which later progresses to all hand muscles and distal lower extremity, primarily in toe and ankle extensors." "" + "obsolete human herpesvirus type 6, integrated" "" "true" + "hereditary motor and sensory neuropathy, Okinawa type" "Hereditary motor and sensory neuropathy, Okinawa type is a rare, genetic, axonal hereditary motor and sensory neuropathy characterized by the adult-onset of slowly progressive, symmetric, proximal dominant muscle weakness and atrophy, painful muscle cramps, fasciculations and distal sensory impairment, mostly (but not exclusively) in individuals (and their descendents) from the Okinawa region in Japan. Absent deep tendon reflexes, elevated creatine kinase levels and autosomal dominant inheritance are also characteristic." "" + "congenital amegakaryocytic thrombocytopenia" "Congenital amegakaryocytic thrombocytopenia (CAMT) is a rare inherited bone marrow failure syndrome characterized by an isolated and severe decrease in the number of platelets and megakaryocytes during the first years of life that develops into bone marrow failure with pancytopenia later in childhood." "" + "hyperlipidemia, combined, 2" "" + "inflammatory bowel disease 3" "An inflammatory bowel disease that has material basis in variation in the chromosome region 6p21.3." "" + "epidermolysis bullosa simplex due to plakophilin deficiency" "Epidermolysis bullosa simplex due to plakophilin deficiency (EBS-PD) is a suprabasal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized superficial erosions and less commonly blistering." "" + "suprabasal epidermolysis bullosa simplex" "A form of epidermolysis bullosa simplex in which blistering occurs above the basal keratinocytes." "" + "Leber congenital amaurosis 5" "Any Leber congenital amaurosis in which the cause of the disease is a mutation in the LCA5 gene." "" + "LCA5 retinopathy" "A retinopathy caused by biallelic variants in the LCA5 gene." "" + "progressive familial heart block type IB" "Any progressive familial heart block in which the cause of the disease is a mutation in the TRPM4 gene." "" + "Charcot-Marie-Tooth disease type 4B2" "Charcot-Marie-Tooth disease type 4B2 (CMT4B2) is a subtype of Charcot-Marie-Tooth type 4 characterized by a severe, early childhood-onset of demyelinating sensorimotor neuropathy, early-onset glaucoma, focally folded myelin sheaths in the peripheral nerves, severely reduced nerve conduction velocities, and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, sensory loss, and frequent pes cavus). Severe visual impairment leading to visual loss has also been reported." "" + "tooth agenesis, selective, 3" "Any tooth agenesis in which the cause of the disease is a mutation in the PAX9 gene." "" + "growth and developintellectual disability, ocular ptosis, cardiac defect, and anal atresia" "" + "postural orthostatic tachycardia syndrome" "A condition characterized by development of symptoms while standing. It is an autonomic nervous system disorder and the symptoms are relieved once the person sits back down. Symptoms include heart." "" + "autosomal dominant nonsyndromic hearing loss 20" "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the ACTG1 gene." "" + "craniosynostosis 2" "A form of syndromic craniosynostosis, characterized by a highly variable craniosynostosis with frontal bossing, turribrachycephaly and cloverleaf skull anomaly. Hypoplasia of the supraorbital ridges, cleft palate, extra teeth and limb anomalies (triphalangeal thumb, 3-4 syndactyly of the hands, a short first metatarsal, middle phalangeal agenesis in the feet) have also been described. Associated problems include headache, poor vision, and seizures. Intelligence is normal." "" + "dilated cardiomyopathy 1I" "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the DES gene." "" + "polycystic bone disease" "" + "catecholaminergic polymorphic ventricular tachycardia 1" "Polymorphic ventricular tachycardia induced by adrenergic stress. It is inherited in an autosomal dominant pattern and is caused by mutations in the ryanodine receptor 2 (RYR2) gene." "" + "catecholaminergic polymorphic ventricular tachycardia" "Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a severe genetic arrhythmogenic disorder characterized by adrenergically induced ventricular tachycardia (VT) manifesting as syncope and sudden death." "" + "autosomal recessive congenital ichthyosis 5" "An autosomal recessive congenital ichthyosis characterized by fine white or greyish-white scales, hyperkeratosis, moderate acanthosis, and moderate parakeratosis that has material basis in homozygous mutation in the CYP4F22 gene on chromosome 19p13." "" + "congenital muscular dystrophy 1B" "Congenital muscular dystrophy type 1B is a rare, genetic neuromuscular disorder characterized by proximal and symmetrical muscle weakness (particularly of neck, sternomastoid, facial and diaphragm muscles), spinal rigidity, joint contractures (Achilles tendon, elbows, hands), generalized muscle hypertrophy and early respiratory failure (usually in the first decade of life). Patients typically present delayed motor milestones and grossly elevated serum creatine kinase levels, and with disease progression, forced expiratory abdominal squeeze and nocturnal hypoventilation." "" + "Huntington disease-like 3" "Huntington disease-like 3 is a rare Huntington disease-like syndrome characterized by childhood-onset progressive neurologic deterioration with pyramidal and extrapyramidal abnormalities, chorea, dystonia, ataxia, gait instability, spasticity, seizures, mutism, and (on brain MRI) progressive frontal cortical atrophy and bilateral caudate atrophy." "" + "microcephaly 3, primary, autosomal recessive" "Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CDK5RAP2 gene." "" + "hereditary spastic paraplegia 12" "Autosomal dominant spastic paraplegia type 12 is a pure form of hereditary spastic paraplegia characterized by a childhood- to adulthood-onset of slowly progressive lower limb spasticity and hyperreflexia of lower extremities, extensor plantar reflexes, distal sensory impairment, variable urinary dysfunction and pes cavus." "" + "diffuse panbronchiolitis" "Diffuse panbronchiolitis is a rare chronic inflammatory obstructive pulmonary disease primarily affecting the respiratory bronchioles throughout both lungs and inducing sinobronchial infection. Onset occurs in the second to fifth decade of life and manifests by chronic cough, exertional dyspnea, and sputum production. Most patients also have chronic paranasal sinusitis" "" + "epilepsy, idiopathic generalized, susceptibility to, 7" "" + "mandibulofacial dysostosis syndrome, Bauru type" "" + "Stickler syndrome type 2" "Stickler syndrome is an inherited vitreoretinopathy characterized by the association of ocular signs with more or less complete forms of Pierre-Robin sequence, bone disorders, and sensorineural deafness (10% of cases). Stickler syndrome type 2 is caused by mutations in the COL11A1 gene (1p21)." "" + "hyaluronan metabolism, defect 1N" "" + "obsolete Langerhans-cell histiocytosis" "" "true" + "mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis" "Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis is a type 2 collagen-related bone disorder characterized by precocious, generalized osteoarthritis (with onset as early as childhood) and mild, dysplastic spinal changes (flattening of vertebrae, irregular endplates and wedge-shaped deformities) resulting in a mildly short trunk." "" + "hereditary North American Indian childhood cirrhosis" "Hereditary North American Indian childhood cirrhosis is a severe autosomal recessive intrahepatic cholestasis that has only been described in aboriginal children from northwestern Quebec. Manifesting first as transient neonatal jaundice, the disease evolves into periportal fibrosis and cirrhosis during a period ranging from childhood to adolescence." "" + "schizophrenia 9" "A schizophrenia that has material basis in a mutation of DISC1 on chromosome 1q42.2." "" + "Okamoto syndrome" "Okamoto syndrome is characterised by congenital hydronephrosis, intellectual deficit, growth retardation, cleft palate, generalised hypotonia and a characteristic face. Cardiac anomalies have also been reported. To date, 6 cases have been reported." "" + "Becker nevus syndrome" "Becker nevus syndrome is characterized by the presence of a Becker nevus in association withunderdevelopment (hypoplasia)of the breast or other skin-related, muscular, or skeletal defects, all of which usually involve the same side of the bodyas the nevus (ipsilateral). Specific signs and symptoms in addition to the nevus may include ipsilateral breast hypoplasia;skeletal abnormalities such ashypoplasia of the shoulder girdle, scoliosis, fused ribs, and ipsilateral shortness of the arm; and several other features. Thecondition is thought to be sporadic (occurring in individuals with no history of the condition in the family). Treatment varies depending upon the specific symptoms present and the extent of the condition in the affected individual." "" + "wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia" "Skeletal dysplasia with wormian bone-multiple fractures-dentinogenesis imperfecta is a skeletal disorder, reported in three patients to date, characterized clinically by multiple fractures, wormian bones of the skull, dentinogenesis imperfecta and facial dysmorphism (hypertelorism, periorbital fullness). Although the signs are very similar to osteogenesis imperfecta, characteristic cortical defects in the absence of osteopenia and collagen abnormalities are considered to be distinctive. There have been no further descriptions in the literature since 1999." "" + "Wolfram syndrome 2" "Any Wolfram syndrome in which the cause of the disease is a mutation in the CISD2 gene." "" + "cortisone reductase deficiency 1" "Decreased activity of hexose-6-phosphatase due to autosomal recessive mutation(s) in the H6PD gene. This enzyme is necessary to generate NADPH, a cofactor in the 11-beta-hydroxysteroid dehydrogenase pathway required for conversion of cortisone to cortisol. The condition is characterized by hyperandrogenism as a result of increased adrenocorticotropic hormone stimulation of the adrenal gland due to failure of cortisol-mediated down-regulation, and is clinically indistinguishable from 11-beta HSD type 1 deficiency." "" + "NDE1-related microhydranencephaly" "NDE1-related microhydranencephaly is a rare, hereditary syndrome with a central nervous system malformation as major feature characterized by extreme microcephaly and growth restriction, severe motor delay and mental retardation, and typical radiological findings of gross dilation of the ventricles resulting from the absence (or severe delay in the development) of cerebral hemispheres, hypoplasia of the corpus callosum, cerebellum, and brainstem. Associated features are thin bones and scalp rugae." "" + "sporadic fetal brain disruption sequence" "Sporadic fetal brain disruption sequence is a rare, non-syndromic, central nervous system malformation disorder characterized by severe microcephaly (average occipitofrontal circumference -5.8 SD), overlapping sutures, keel-like occipital bone prominence, scalp rugae with normal hair pattern and signs of neurological impairment. Brain imaging may show ventriculomegaly, cortical tissue deficit, and hydranencephaly." "" + "familial hypobetalipoproteinemia 2" "Any hypobetalipoproteinemia in which the cause of the disease is a mutation in the ANGPTL3 gene." "" + "familial infantile myoclonic epilepsy" "" + "myoclonic epilepsy of infancy" "" + "diabetes mellitus, congenital autoimmune" "" + "lymphoma, non-Hodgkin, familial" "" + "low density lipoprotein cholesterol, mild elevation of" "" + "Bohring-Opitz syndrome" "Bohring-Opitz syndrome is characterised by intrauterine growth retardation (IUGR), failure to thrive, facial dysmorphism (prominent metopic suture and forehead nevus flammeus, a low frontal and temporal hairline with hirsutism, puffy cheeks, upslanting palpebral fissures, exophthalmos, hypertelorism, cleft lip and palate, retrognathia and low set ears), flexion deformities of the elbows and wrists, camptodactyly, ulnar deviation of the fingers, foot anomalies and severe developmental delay. Less than 20 patients have been described so far. Although the large majority of reported cases occurred sporadically, autosomal recessive inheritance has also been reported." "" + "clavicular hypoplasia, zygomatic arch hypoplasia, and micrognathia" "" + "palpebral piliary tumor" "" + "Alzheimer disease, familial early-onset, with coexisting amyloid and prion pathology" "" + "tricuspid atresia" "Tricuspid atresia is (TA) a rare congenital heart malformation characterized by the congenital agenesis of tricuspid valve leading to severe hypoplasia of right ventricle (functionally univentricular). TA is associated with normally related or transposed great vessels (TGV), an obligatory interatrial connection that is crucial for survival (patent foramen ovale or atrial septal defect, osteum secondum type), ventricular septal defect (in 90% cases), pulmonary outflow obstruction - pulmonary atresia, stenosis or hypoplasia (usually in TA with normally related vessels but also in TGV), aortic coarctation and/or aortic arch interruption (usually in TA with TGV)." "" + "obsolete papillary renal cell carcinoma" "" "true" + "early response to neural induction gene" "" + "pseudohyperaldosteronism type 2" "Hypertension due to gain-of-function mutations in the mineralocorticoid receptor is a rare genetic hypertension characterized by a familial severe hypertension with an onset before age 20 years, associated with suppressed plasma renin and low aldosterone levels in the presence of low or normal levels of the mineralocorticoid aldosterone, that is highly resistant to antihypertensive medication. During pregnancy, there is a marked exacerbation of hypertension, accompanied by low serum potassium levels and undetectable aldosterone levels, but without signs of preeclampsia, requiring early delivery." "" + "Wiedemann-Steiner syndrome" "Wiedemann-Steiner syndrome is a rare genetic condition characterized by distinctive facial features, hairy elbows, short stature, and intellectual disability. This condition is caused by changes (mutations) in the KMT2A gene (also known as the MLL gene). It is inherited in an autosomal dominant manner. Most cases result from new (de novo) mutations that occur only in an egg or sperm cell, or just after conception. Treatment is symptomatic and supportive and may include special education classes and speech and occupational therapies aimed at increasing motor functioning and language." "" + "autosomal dominant nonsyndromic hearing loss 23" "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the SIX1 gene." "" + "systemic lupus erythematosus, susceptibility to, 2" "" + "inflammatory bowel disease 7" "An inflammatory bowel disease that has material basis in variation in the chromosome region 1p36." "" + "hereditary spastic paraplegia 14" "A hereditary spastic paraplegia that has material basis in variation in the chromosome region 3q27-q28." "" + "Bardet-Biedl syndrome 6" "" + "Dianzani autoimmune lymphoproliferative disease" "Dianzani autoimmune lymphoproliferative disease (DALD) is a very rare disorder characterized by autoimmunity, lymphadenopathy and/or splenomegaly." "" + "Carney complex type 2" "" + "obsolete Sebastian syndrome" "" "true" + "Charcot-Marie-Tooth disease type 4E" "Charcot-Marie-Tooth disease type 4E (CMT4E) is a congenital, hypomyelinating subtype of Charcot-Marie-Tooth disease type 4 characterized by a Dejerine-Sottas syndrome-like phenotype (incl. hypotonia and/or delayed motor development in infancy), extremely slow nerve conduction velocities, potential respiratory dysfunction, cranial nerve involvement, and the typical CMT phenotype, i.e. distal muscle weakness and atrophy, sensory loss, and foot deformity." "" + "neuropathy, congenital hypomelinating" "" + "hyper-IgM syndrome type 2" "A hyper-IgM syndrome characterized by the absence of immunoglobulin class switch recombination, the lack of immunoglobulin somatic hypermutations, and lymph node hyperplasia caused by the presence of giant germinal centers." "" + "hyper-IgM syndrome without susceptibility to opportunistic infections" "" + "spinocerebellar ataxia type 13" "Spinocerebellar ataxia type 13 (SCA13) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by onset in childhood marked by delayed motor and cognitive development followed by mild progression of cerebellar ataxia." "" + "mesomelic dysplasia, Savarirayan type" "Mesomelic dysplasia, Savarirayan type is characterised by severely hypoplastic and triangular-shaped tibiae, and absence of the fibulae. So far, two sporadic cases have been described. Moderate mesomelia of the upper limbs, proximal widening of the ulnas, pelvic anomalies and marked bilateral glenoid hypoplasia were also reported." "" + "Noonan syndrome 2" "" + "hereditary spastic paraplegia 13" "Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the HSPD1 gene." "" + "temtamy preaxial brachydactyly syndrome" "An autosomal recessive disease that is characterized by brachydactyly, hyperphalangism of digits, facial dysmorphism, dental anomalies, sensorineural hearing loss, delayed motor and mental development, and growth retardation and has material basis in homozygous mutation in the CHSY1 gene." "" + "Charcot-Marie-Tooth disease type 4G" "Charcot-Marie-Tooth disease type 4G (CMT4G) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by early childhood onset of progressive distal muscle weakness and atrophy, delayed motor development, prominent distal sensory impairment, areflexia, moderately reduced nerve conduction velocities, and foot and hand deformities in Balkan (Russe) Gypsies." "" + "split hand-foot malformation 4" "Any split hand-foot malformation in which the cause of the disease is a mutation in the TP63 gene." "" + "optic atrophy 4" "" + "macrocephaly-autism syndrome" "An autosomal dominant disease characterized by macrocephaly, facial phenotypes including square outline with frontal bossing, 'dished-out' midface, biparietal narrowing, and long philtrum, developmental delay and autism that has material basis in heterozygous mutation in the PTEN gene on chromosome 10q23." "" + "frontoocular syndrome" "" + "nemaline myopathy 5" "Amish nemaline myopathy is a type of nemaline myopathy (NM) only observed in several families of the Amish community." "" + "qualitative or quantitative defects of troponin" "" + "congenital nemaline myopathy" "" + "spinocerebellar ataxia type 14" "Spinocerebellar ataxia type 14 (SCA14) is a rare mild subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by slowly progressive ataxia, dysarthria and nystagmus." "" + "dilated cardiomyopathy 1J" "An extremely rare autosomal dominant syndrome described in two families to date and characterized by moderate to severe sensorineural hearing loss manifesting during childhood, and associated with late-onset dilated cardiomyopathy that generally progresses to heart failure." "" + "psoriasis 6, susceptibility to" "" + "obsolete BRCA3" "" "true" + "paragangliomas 3" "Any paraganglioma in which the cause of the disease is a mutation in the SDHC gene." "" + "autosomal dominant nocturnal frontal lobe epilepsy 3" "Any autosomal dominant nocturnal frontal lobe epilepsy in which the cause of the disease is a mutation in the CHRNB2 gene." "" + "heterotaxy, visceral, 2, autosomal" "" + "cataract 31 multiple types" "Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CHMP4B gene." "" + "cerebral palsy, ataxic, autosomal recessive" "" + "hypotrichosis 1" "Any hypotrichosis in which the cause of the disease is a mutation in the APCDD1 gene." "" + "fibromatosis, gingival, with hypertrichosis and intellectual disability" "" + "TH-deficient dopa-responsive dystonia" "Autosomal recessive dopa-responsive dystonia (DYT5b) is a very rare neurometabolic disorder characterized by a spectrum of symptoms ranging from those seen in dopa-responsive dystonia (DRD) to progressive infantile encephalopathy." "" + "tyrosine hydroxylase deficiency" "Tyrosine hydroxylase (TH) deficiency is an autosomal recessive disorder characterized by a spectrum of phenotypic features, based on severity and response to levodopa. It can be broadly categorized into TH-deficient dopa-responsive dystonia (mild, with dramatic and sustained response to levodopa), TH-deficiency infantile parkinsonism with motor delay (severe, with incomplete response to levodopa), and TH-deficiency infantile encephalopathy (very severe, with little to no response to levodopa)." "" + "schizophrenia 10" "A schizophrenia that has material basis in an autosomal dominant mutation of SCZD10 on chromosome 15q15." "" + "autosomal recessive nonsyndromic hearing loss 26" "An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 4q31." "" + "deafness, nonsyndromic, modifier 1" "" + "radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome" "Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome is characterised by the association of proximal fusion of the radius and ulna with congenital amegakaryocytic thrombocytopaenia. Less than 10 cases have been reported in the literature so far. The syndrome is transmitted as an autosomal dominant trait and is caused by mutations in the HOXA11 gene (7p15)." "" + "basal cell carcinoma, susceptibility to, 1" "" + "radiation sensitivity/chromosome instability syndrome, autosomal dominant" "" + "Usher syndrome type 2C" "A form of Usher syndrome type 2 that features a heterozygous frameshift mutation in the GPR98 gene and a heterozygous frameshift mutation in the PDZD7 gene. It is inherited in an autosomal recessive manner." "" + "systemic lupus erythematosus, susceptibility to, 3" "" + "Alzheimer disease 6" "An Alzheimer's disease that is characterized by an associated with variation in the region 10q24." "" + "autosomal dominant Parkinson disease 4" "A late onset Parkinson disease that has material basis in heterozygous triplication of the alpha-synuclein gene (SNCA) on chromosome 4q22." "" + "fibromatosis, gingival, 2" "" + "cone-rod dystrophy 8" "A cone-rod dystrophy that has material basis in variation in the chromosome region 1q12-q24." "" + "metabolic syndrome X" "" + "abdominal obesity-metabolic syndrome quantitative trait locus 2" "" + "dilated cardiomyopathy 1K" "A dilated cardiomyopathy that has material basis in variation in the chromosome region 6q12-q16." "" + "autosomal dominant nonsyndromic hearing loss 25" "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the SLC17A8 gene." "" + "Charcot-Marie-Tooth disease type 2B1" "Charcot-Marie-Tooth disease, type 2B1 (CMT2B1, also referred to as CMT4C1) is an axonal CMT peripheral sensorimotor polyneuropathy." "" + "Charcot-Marie-Tooth disease type 2B2" "Charcot-Marie-Tooth disease, type 2B2 (CMT2B2, also referred to as CMT4C3) is an axonal CMT peripheral sensorimotor polyneuropathy that has been described in a large consanguineous Costa Rican family of Spanish ancestry." "" + "deafness, autosomal dominant 39, with dentinogenesis imperfecta 1" "" + "type 1 diabetes mellitus 18" "A type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 5q31.1-q33.1." "" + "psoriasis 7, susceptibility to" "" + "tetralogy of fallot syndrome, autosomal recessive" "" + "cerebrooculonasal syndrome" "Cerebro-oculo-nasal syndrome is a multisystem malformation syndrome that has been reported in about 10 patients. The clinical features include bilateral anophthalmia, abnormal nares, central nervous system anomalies, and neurodevelopmental delay." "" + "familial hyperaldosteronism type II" "Familial hyperaldosteronism type II (FH-II) is a heritable form of primary aldosteronism (PA) characterized by hypertension of varying severity, and non glucocticoid remediable hyperaldosteronism." "" + "myopathy, proximal, and ophthalmoplegia" "" + "familial papillary thyroid carcinoma with renal papillary neoplasia" "Familial papillary thyroid carcinoma with renal papillary neoplasia (fPTC/PRN) is an extremely rare inherited tumor syndrome within the familial nonmedullary thyroid cancer group (fNMTC)." "" + "late-onset retinal degeneration" "Late-onset retinal degeneration is an inherited retinal dystrophy characterized by delayed dark adaptation and nyctalopia and drusen deposits presenting in adulthood, followed by cone and rod degeneration that presents in the sixth decade of life, which leads to central vision loss. Anterior segment features such as peripupillary iris transillumination defects and abnormally long anterior zonular insertions are also observed. Choroidal neovascularization and glaucoma may occur in the late stages of the disease." "" + "cerebellar ataxia and hypergonadotropic hypogonadism" "" + "arrhythmogenic cardiomyopathy with woolly hair and keratoderma" "A cardioectodermal syndrome that is often associated with the gene DSP, encoding desmoplakin. Desmoplakin is a member of the plakin family of cell adhesion molecules that are responsible for the formation and maintenance of desmosomes. Variation in DSP is associated with cardiomyopathic manifestations that include: (1) seemingly isolated arrhythmogenic right ventricle cardiomyopathy (ARVC) that is atypical and can show left ventricle dominance, or be present in the left and right ventricle simultaneously; and (2) dilated cardiomyopathy. Cutaneous phenotypes including woolly hair and/or keratoderma can present along with the cardiomyopathy, but are noted as less penetrant features." "" + "multiple mitochondrial dysfunctions syndrome 1" "Any fatal multiple mitochondrial dysfunctions syndrome in which the cause of the disease is a mutation in the NFU1 gene." "" + "fatal multiple mitochondrial dysfunctions syndrome" "Multiple mitochondrial dysfunctions syndrome describes a group of rare inborn errors of energy metabolism due to defects in mitochondrial [4Fe-4S] protein assembly. Patients present with a neonatal/infancy onset of metabolic lactic acidosis (that may be associated with hyperglycinemia and other abnormal metabolic testing results), muscular hypotonia, absence of psychomotor development or developmental regression, as well as abnormal neuroimaging findings (including leukodystrophy, brain developmental defects, white matter abnormalities, cerebral atrophy), and other variable clinical features (e.g., optic atrophy, cardiomyopathy, pulmonary hypertension, seizures, and dysmorphic features). Early fatal outcome is usual." "" + "cerebral amyloid angiopathy, APP-related" "A cerebral amyloid angiopathy that has material basis in an autosomal dominant mutation of APP on chromosome 21q21.3." "" + "Fanconi anemia complementation group D1" "Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations is a rare cancer-predisposing syndrome, associated with the D1 subgroup of Fanconi anemia (FA), characterized by progressive bone marrow failure, cardiac, brain, intestinal or skeletal abnormalities and predisposition to various malignancies. Bone marrow suppression and the incidence of developmental abnormalities are less frequent than in other FA, but cancer risk is very high with the spectrum of childhood cancers including Wilms tumor, brain tumor (often medulloblastoma) and ALL/AML." "" + "autosomal recessive distal spinal muscular atrophy 2" "Distal hereditary motor neuropathy, Jerash type is a rare, genetic neuromuscular disease characterized by progressive, symmetrical, moderate to severe, distal muscle weakness and atrophy, without sensory involvement, first affecting the lower limbs (towards the end of the first decade) and then involving (within two years) the upper extremities. Patients typically develop foot drop, pes varus, hammer toes and claw hands. Pyramidal tract signs (e.g. brisk knee reflexes, positive Babinski sign, absent ankle reflexes) are initially associated but regress as disease stabilizes (~10 years after onset)." "" + "otosclerosis 2" "" + "cataract 25" "A cataract that has material basis in variation in the region 15q21-q22." "" + "early-onset sutural cataract" "" + "platelet-type bleeding disorder 12" "An inherited blood coagulation disease characterized by autosomal dominant inheritance of mildly increased bleeding, platelet aggregation defect, and impaired conversion of arachidonic acid to thromboxane A2 in platelets due to deficiency in PTGS1 activity." "" + "microphthalmia with coloboma 2" "" + "anisomastia" "" + "cataract 26 multiple types" "A cataract that has material basis in variation in the region 9q13-q22." "" + "exudative vitreoretinopathy 3" "" + "seizures, benign familial infantile, 2" "" + "ovarian dysgenesis, hypergonadotropic, with short stature and recurrent metabolic acidosis" "" + "nonsyndromic congenital nail disorder 7" "" + "atopic dermatitis 2" "Any atopic eczema in which the cause of the disease is a mutation in the FLG gene." "" + "atopic dermatitis 3" "An atopic dermatitis associated with variation in the region 20p." "" + "atopic dermatitis 4" "An atopic dermatitis associated with variation in the region 17q25.3." "" + "birdshot chorioretinopathy" "Birdshot chorioretinopathy is a posterior uveitis characterized by multiple cream-colored, hypopigmented choroidal lesions in the fundus and a strong association with HLA-A29 and clinically presenting with blurred vision, floaters, photopsia, scotoma and nyctalopia." "" + "non-infectious posterior uveitis" "" + "congenital myasthenic syndrome 4A" "A congenital myasthenic syndrome characterized by postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and prolonged opening and activity of the acetylcholine receptor channel that has material basis in heterozygous or rarely biallelic mutation in the CHRNE gene on chromosome 17p13." "" + "neonatal intrahepatic cholestasis due to citrin deficiency" "Neonatal intrahepatic cholestasis due to citrin deficiency is a mild subtype of citrin deficiency characterized clinically by low birth weight, failure to thrive, transient intrahepatic cholestasis, multiple aminoacidemia, galactosemia, hypoproteinemia, hepatomegaly, decreased coagulation factors, hemolytic anemia, variable but mostly mild liver dysfunction, and hypoglycemia." "" + "citrin deficiency" "Citrin deficiency is a rare autosomal recessive urea cycle defect characterized clinically by recurring episodes of hyperammonemia and associated neuropsychiatric symptoms in the adult-onset form (citrullinemia type II), and by transient cholestasis and variable hepatic dysfunction in the neonatal form (neonatal intrahepatic cholestasis due to citrin deficiency)." "" + "autosomal recessive nonsyndromic hearing loss 27" "An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 2q23-q31." "" + "GNE myopathy" "Nonaka distal myopathy (described in Japan) and the quadriceps-sparing autosomal recessive inclusion body myopathy type 2 (IBM2; independently described in Iranian Jews and later in other Jewish and non-Jewish populations) constitute the same pathological entity, distinguished by the sparing of quadriceps." "" + "qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase -" "" + "spondylo-ocular syndrome" "Spondylo-ocular syndrome is a very rare association of spinal and ocular manifestations that is characterized by dense cataracts, and retinal detachment along with generalized osteoporosis and platyspondyly. Mild craniofacial dysphormism has been reported including short neck, large head and prominent eyebrows." "" + "generalized basaloid follicular hamartoma syndrome" "Generalized basaloid follicular hamartoma syndrome is a rare, genetic skin disease characterized by multiple milium-like, comedone-like lesions and skin-colored to hyperpigmented, 1 to 2 mm-sized papules, associated with hypotrichosis and palmar/plantar pits. Lesions are usually first noticed on cheeks or neck and gradually increase in size and number to involve the scalp, face, ears, shoulders, chest, axillas, and upper arms. In severe cases, lower back, lower arms, and back of the legs can be involved. Mild hypohidrosis has also been reported." "" + "baby rattle pelvis dysplasia" "" + "narcolepsy 2, susceptibility to" "" + "atopic dermatitis 5" "An atopic dermatitis associated with variation in the region 13q12-q14." "" + "atopic dermatitis 6" "An atopic dermatitis associated with variation in the region 5q31-q33." "" + "short stature, intellectual disability, callosal agenesis, Heminasal hypoplasia, microphthalmia, and atypical clefting" "" + "glycine encephalopathy" "Glycine encephalopathy (GE) is an inborn error of glycine metabolism characterized by accumulation of glycine in body fluids and tissues, including the brain, resulting in neurometabolic symptoms of variable severity." "" + "autosomal recessive early-onset Parkinson disease 6" "Any Parkinson disease in which the cause of the disease is a mutation in the PINK1 gene." "" + "3-hydroxy-3-methylglutaryl-CoA synthase deficiency" "3-hydroxy-3-methylglutaryl-CoA synthase deficiency (HMG-CoA synthase deficiency) is a rare autosomal recessively inherited disorder of ketone body metabolism, reported in less than 20 patients to date, characterized clinically by episodes of decompensation (often associated with gastroenteritis or fasting) that present with vomiting, lethargy, hepatomegaly, non ketotic hypoglycemia and, in rare cases, coma. Patients are mostly asymptomatic between acute epidodes. HMG-CoA synthase deficiency requires an early diagnosis in order to avoid hypoglycemic crises that can lead to permanent brain damage or death." "" + "East Texas bleeding disorder" "" + "holoprosencephaly 6" "A holoprosencephaly that has material basis in variation in the chromosome region 2q37.1-q37.3." "" + "arthropathy, erosive" "" + "liver fibrocystic disease and polydactyly" "" + "crumpled helices and small mouth" "" + "metaphyseal dysplasia, Braun-Tinschert type" "Metaphyseal dysplasia, Braun-Tinschert type is characterised by metapyhseal undermodeling with broadening of the long bones and femora with an 'Erlenmeyer flask'' appearance, expansion and bowing of the radii with severe varus deformity and flat exostoses of the long bones at the metadiaphyseal junctions." "" + "acropectoral syndrome" "Acro-pectoral syndrome is characterized by a combination of distal limb abnormalities (syndactyly of all fingers and toes, preaxial polydactyly in the feet and/or hands) and upper sternum malformations. It has been described in 22 patients from a six-generation Turkish family. It is transmitted as an autosomal dominant trait and the causative gene is located at 7q36." "" + "nephrolithiasis, uric acid, susceptibility to" "" + "obsolete spinocerebellar ataxia, autosomal recessive 1" "" "true" + "transaldolase deficiency" "Transaldolase deficiency is an inborn error of the pentose phosphate pathway that presents in the neonatal or antenatal period with hydrops fetalis, hepatosplenomegaly, hepatic dysfunction, thrombocytopenia, anemia, and renal and cardiac abnormalities." "" + "inborn disorder of pentose phosphate metabolism" "" + "autosomal dominant nonsyndromic hearing loss 18" "An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 3q22." "" + "acromegaloid features, overgrowth, cleft palate, and hernia" "" + "autism, susceptibility to, 5" "" + "propionic acidemia" "Propionic acidemia (PA) is an organic aciduria caused by the deficient activity of the propionyl Coenzyme A carboxylase and is characterized by life threatening episodes of metabolic decompensation, neurological dysfunction and that may be complicated by cardiomyopathy." "" + "MOGS-CDG" "MOGS-CDG is a form of congenital disorders of N-linked glycosylation characterized by generalized hypotonia, craniofacial dysmorphism (prominent occiput, short palpebral fissures, long eyelashes, broad nose, high arched palate , retrognathia), hypoplastic genitalia, seizures, feeding difficulties, hypoventilation, severe hypogammaglobulinemia with generalized edema, and increased resistance to particular viral infections (particularly to enveloped viruses). The disease is caused by loss-of-function mutations in the gene MOGS (2p13.1)." "" + "retinitis pigmentosa 28" "Any retinitis pigmentosa in which the cause of the disease is a mutation in the FAM161A gene." "" + "hemochromatosis type 4" "Hemochromatosis type 4 (also called ferroportin disease) is a form of rare hereditary hemochromatosis (HH), a group of diseases characterized by excessive tissue iron deposition of genetic origin." "" + "amyotrophic lateral sclerosis type 21" "Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the MATR3 gene." "" + "Charcot-Marie-Tooth disease axonal type 2C" "Autosomal dominant Charcot-Marie-Tooth disease type 2C (CMT2C) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by the association of vocal cord anomalies, impairment of respiratory muscles and sensorineural hearing loss with the distal hands and feet weakness. Onset is between infancy and the 6th decade." "" + "rippling muscle disease" "A benign myopathy with symptoms and signs of muscular hyperexcitability. The typical finding is electrically silent muscle contractions provoked by mechanical stimuli and stretch" "" + "goiter, multinodular 3" "" + "Diamond-Blackfan anemia 2" "" + "Sener syndrome" "" + "neuroferritinopathy" "Neuroferritinopathy is a late-onset type of neurodegeneration with brain iron accumulation (NBIA) characterized by progressive chorea or dystonia and subtle cognitive deficits." "" + "Diamond-Blackfan anemia 15 with mandibulofacial dysostosis" "Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS28 gene." "" + "genitopatellar syndrome" "Genitopatellar syndrome is a rare congenital patellar anomaly syndrome characterized by patellar aplasia or hypoplasia associated with microcephaly, characteristic coarse facial features (microcephaly, bitemporal narrowing, large, broad nose with high nasal bridge, prominent cheeks and micro/retrognathia or prognathism), arthrogryposis of the hips and knees, urogenital abnormalities and intellectual deficiency." "" + "baculum, congenital absence of" "" + "carnitine acetyltransferase deficiency" "A disease arising from a defect of carnitine acetyltransferase causing disruption of whole-body glucose homeostasis and muscle-specific loss of function results in reduced metabolic control, which resembles the insulin resistant state." "" + "obsolete permanent neonatal diabetes mellitus" "" "true" + "pars planitis" "An inflammatory disorder of the cilliary body in the uvea that affects healthy, younger individuals who are often asymptomatic. It has a long clinical course with relapses and remissions. Symptoms include mildly decreased vision and floaters. It may be associated with autoimmune disorders." "" + "obsolete aneurysmal bone cysts" "" "true" + "laryngeal abductor paralysis with cerebellar ataxia and motor neuropathy" "" + "Alzheimer disease 7" "An Alzheimer's disease that is characterized by an associated with variation in the region 10p13." "" + "radiation-induced meningioma" "" + "AVSD 1" "" + "atrioventricular septal defect, susceptibility to, 2" "Any atrioventricular septal defect in which the cause of the disease is a mutation in the CRELD1 gene." "" + "intellectual disability, short stature, facial anomalies, and joint dislocations" "" + "Phelan-McDermid syndrome" "Monosomy 22q13 syndrome (deletion 22q13.3 syndrome or Phelan-McDermid syndrome) is a chromosome microdeletion syndrome characterized by neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, and minor dysmorphic features." "" + "chromosome 22q deletion" "" + "thyroid cancer, nonmedullary, 3" "" + "intellectual disability, microcephaly, growth retardation, joint contractures, and facial dysmorphism" "" + "paget disease of bone 4" "" + "autosomal dominant nonsyndromic hearing loss 24" "An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 4q35-qter." "" + "autosomal recessive early-onset Parkinson disease 7" "Any Parkinson disease in which the cause of the disease is a mutation in the PARK7 gene." "" + "heterotaxy, visceral, 3, autosomal" "" + "autosomal dominant nonsyndromic hearing loss 22" "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the MYO6 gene." "" + "inflammatory bowel disease 5" "An inflammatory bowel disease that has material basis in variation in the chromosome region 5q31." "" + "pathological gambling" "A disorder characterized by a preoccupation with gambling and the excitement that gambling with increasing risk provides. Pathological gamblers are unable to cut back on their gambling, despite the fact that it may lead them to lie, steal, or lose a significant relationship, job, or educational opportunity." "" + "juvenile primary lateral sclerosis" "Juvenile primary lateral sclerosis (JPLS) is a very rare motor neuron disease characterized by progressive upper motor neuron dysfunction leading to loss of the ability to walk with wheelchair dependence, and subsequently, loss of motor speech production." "" + "lateral sclerosis" "Primary lateral sclerosis (PLS) is an idiopathic non-familial motor neuron disease characterized by slowly progressive upper motor neuron dysfunction leading to spasticity, mild weakness in voluntary muscle movement, hyperreflexia, and loss of motor speech production." "" + "immunodeficiency due to CD25 deficiency" "" + "obsolete Lennox-Gastaut syndrome" "" "true" + "obsolete maturity-onset diabetes of the young" "" "true" + "maturity-onset diabetes of the young type 4" "Monogenic diabetes caused by inactivating mutation(s) in the PDX1 gene, encoding pancreas/duodenum homeobox protein 1. Homozygous PDX1 mutations result in permanent neonatal diabetes." "" + "maturity-onset diabetes of the young type 6" "Monogenic diabetes caused by inactivating mutation(s) in the gene NEUROD1, encoding neurogenic differentiation 1. In addition to diabetes, this condition may be associated with neurogenic anomalies. Homozygous NEUROD1 mutations result in permanent neonatal diabetes." "" + "hypotonia-cystinuria syndrome" "A rare syndrome including neonatal and infantile hypotonia and failure to thrive, cystinuria type 1 and nephrolithiasis, growth retardation due to growth hormone deficiency, and minor facial dysmorphism." "" + "homozygous 2p21 microdeletion syndrome" "" + "Ehlers-Danlos syndrome due to tenascin-X deficiency" "" + "Huntington disease-like 2" "Huntington disease-like 2 (HDL2) is a severe neurodegenerative disorder considered part of the neuroacanthocytosis syndromes characterized by a triad of movement, psychiatric, and cognitive abnormalities." "" + "persistent polyclonal B-cell lymphocytosis" "Persistent polyclonal B-cell lymphocytosis (PPBL) is a rare, generally benign, lymphoproliferative hematological disease characterized by: chronic, stable, persistent, polyclonal lymphocytosis of memory B-cell origin, the presence of binucleated lymphocytes in the peripheral blood, and a polyclonal increase in serum immunoglobulin M (IgM). Patients are most frequently asymptomatic or may present with mild splenomegaly." "" + "autosomal dominant nonsyndromic hearing loss 30" "An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 15q25-q26." "" + "Charcot-Marie-Tooth disease dominant intermediate B" "Autosomal dominant intermediate Charcot-Marie-Tooth disease type B is a rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both demyelination and axonal degeneration in nerve biopsies. It presents with mild to moderately severe, slowly progressive usual clinical features of Charcot-Marie-Tooth disease (muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities). Other findings include asymptomatic neutropenia and early-onset cataracts." "" + "autosomal dominant intermediate Charcot-Marie-Tooth disease" "Autosomal dominant form of intermediate Charcot-Marie-Tooth disease." "" + "Charcot-Marie-Tooth Disease, axonal, type 2GG" "Autosomal dominant intermediate Charcot-Marie-Tooth disease type A is a rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both demyelination and axonal degeneration in nerve biopsies. It presents with usual clinical features of Charcot-Marie-Tooth disease (progressive muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities) in the first to second decade of life with steady progression until the fourth decade, severe progression and stabilization afterwards." "" + "PHACE syndrome" "PHACE is an acronym used to describe a syndrome characterised by the association of posterior fossa brain malformations, large facial haemangiomas, anatomical anomalies of the cerebral arteries, aortic coarctation and other cardiac anomalies, and eye abnormalities. Sternal anomalies are also sometimes present, and in these cases the syndrome is referred to as PHACES. Two additional manifestations have recently been added to the clinical spectrum of PHACE syndrome: stenosis of the vessels at the base of the skull and segmental longitudinal dilations of the internal carotid artery." "" + "vascular tumor with associated anomalies" "True" + "obsolete genetic vascular tumor" "An instance of rare vascular tumor that is caused by a modification of the individual's genome." "" "true" + "Megarbane syndrome" "" + "homozygous 11P15-p14 deletion syndrome" "" + "autosomal recessive congenital ichthyosis 3" "Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the ALOXE3 gene." "" + "episodic ataxia type 4" "Episodic ataxia type 4 (EA4) is a very rare form of Hereditary episodic ataxia characterized by late-onset episodic ataxia, recurrent attacks of vertigo, and diplopia." "" + "episodic ataxia type 3" "Episodic ataxia type 3 (EA3) is a very rare form of Hereditary episodic ataxia characterized by vestibular ataxia, vertigo, tinnitus, and interictal myokymia." "" + "oculocutaneous albinism type 4" "Oculocutaneous albinism type 4 (OCA4) is a type of OCA characterized by varying degrees of skin and hair hypopigmentation, numerous ocular changes and misrouting of the optic nerves at the chiasm." "" + "vitiligo-associated multiple autoimmune disease susceptibility 1" "" + "polysubstance abuse, susceptibility to" "" + "DNA ligase IV deficiency" "LIG4 syndrome is a hereditary disorder associated with impaired DNA double-strand break repair mechanisms and characterized by microcephaly, unusual facial features, growth and developmental delay, skin anomalies, and pancytopenia, which is associated with combined immunodeficiency (CID)." "" + "Charcot-Marie-Tooth disease axonal type 2F" "Autosomal dominant Charcot-Marie-Tooth disease type 2F (CMT2F) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2F is characterized by symmetric weakness primarily occurring in the lower limbs (distal muscles in a majority of cases) and reaching the arms only after 5 to 10 years, occasional and predominantly distal sensory loss and reduced tendon reflexes. CMT2F presents with gait anomaly between the 1st and 6th decade and early onset is generally associated to a more severe phenotype which may include foot drop." "" + "muscular dystrophy-dystroglycanopathy type B5" "A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscular dystrophy with variable penetrance of intellectual disability and structural brain abnormalities that has material basis in homozygous or compound heterozygous mutation in the FKRP gene on chromosome 19q13.3." "" + "dyslexia, susceptibility to, 6" "" + "Camurati-Engelmann disease, type 2" "Camurati-Engelmann Disease not associated with TGFB1. This is an n-of-1 use case where only one patient or family has been described with this disorder." "" + "amyotrophic lateral sclerosis type 3" "" + "basal ganglia calcification, idiopathic, 2" "" + "glaucoma, normal tension, susceptibility to" "" + "spinocerebellar ataxia type 15/16" "Spinocerebellar ataxia type 15/16 (SCA15/16) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by cerebellar ataxia, tremor and cognitive impairment." "" + "melanoma, uveal, susceptibility to, 1" "" + "melanoma, uveal, susceptibility to, 2" "" + "Waardenburg syndrome type 2C" "A Waardenburg's syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and absence of lateral displacement of the inner canthus of each eye that has material basis in variation in the chromosome region 8p23." "" + "glycine N-methyltransferase deficiency" "Glycine N-methyltransferase deficiency (GNMT deficiency) is a very rare condition characterized by persistent and isolated excess levels of methionine in the blood (hypermethioninemia). The only clinical abnormalities are mild increase of the liver size (hepatomegaly) and chronic elevation of the transaminase levels in the blood without liver disease. Methionine may also be increased in urine. However, because elevated levels of methionine in the blood itself is a risk factor for development of neurological signs and symptoms, people with GNMT deficiency can have neurological problems when methionine levelsare greater than 800μmol/L. GNMT deficiency is caused by mutations in the GNMT gene. Inheritance is autosomal recessive. Treatment is not needed in most cases." "" + "inflammatory bowel disease 8" "An inflammatory bowel disease that has material basis in variation in the chromosome region 16p." "" + "inflammatory bowel disease 6" "An inflammatory bowel disease that has material basis in variation in the chromosome region 19p13." "" + "inflammatory bowel disease 4" "An inflammatory bowel disease that has material basis in variation in the chromosome region 14q11-q12." "" + "dilated cardiomyopathy 1L" "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the SGCD gene." "" + "spongiform encephalopathy with neuropsychiatric features" "" + "glaucoma 1, open angle, B" "" + "Kufor-Rakeb syndrome" "Kufor-Rakeb syndrome (KRS) is a rare genetic neurodegenerative disorder characterized by juvenile Parkinsonism, pyramidal degeneration (dystonia), supranuclear palsy, and cognitive impairment." "" + "familial dyskinesia and facial myokymia" "Familial dyskinesia and facial myokymia (FDFM) is a rare paroxysmal movement disorder, with childhood or adolescent onset, characterized by paroxysmal choreiform, dystonic, and myoclonic movements involving the limbs (mostly distal upper limbs), neck and/or face, which can progressively increase in both frequency and severity until they become nearly constant. Patients may also present with delayed motor milestones, perioral and periorbital dyskinesias, dysarthria, hypotonia, and weakness." "" + "autosomal dominant nonsyndromic hearing loss 36" "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the TMC1 gene." "" + "split hand-foot malformation 5" "Split-hand/foot malformation mapped to chromosome 2q31." "" + "specific language impairment 1" "" + "specific language impairment 2" "" + "van der Woude syndrome 2" "Any van der Woude syndrome in which the cause of the disease is a mutation in the GRHL3 gene." "" + "melanoma-pancreatic cancer syndrome" "" + "partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome" "" + "Seckel syndrome 2" "Any Seckel syndrome in which the cause of the disease is a mutation in the RBBP8 gene." "" + "acute hemorrhagic leukoencephalitis" "Acute hemorrhagic leukoencephalitis(AHL) is a veryrareform of acute disseminated encephalomyelitis that usuallyresults indeath. It is characterized by a brief but intense attack of inflammation in the brain and spinal cord that damages the myelin -- the protective covering of the nerve fibers. It may also cause bleeding in the brain, leading to damage of the white matter. Symptoms usually come on quickly, beginning with symptoms such as fever, neck stiffness, fatigue, headache, nausea vomiting,seizures, and coma.AHL has a very poor prognosis, with rapid deterioration and death usually occurring within days to one week after onset of symptoms because of severe inflammation in the brain. Although the exact cause is unclear,AHL usually followsaviral infection, or less often, vaccination for measles, mumps, or rubella. Some researchers think that an infection or vaccination can initiate an autoimmune process in the body thus leading to AHL." "" + "acute disseminated encephalomyelitis" "Acute disseminated encephalomyelitis (ADEM) is a demyelinating disorder of the central nervous system." "" + "hyperinsulinism-hyperammonemia syndrome" "Hyperinsulinism-hyperammonemia syndrome (HIHA) is a frequent form of diazoxide-sensitive diffuse hyperinsulinism, characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia), asymptomatic hyperammonemia and recurrent episodes of profound hypoglycemia induced by fasting and protein rich meals, requiring rapid and intensive treatment to prevent neurological sequelae. Epilepsy and cognitive deficit that are unrelated to hypoglycemia may also occur." "" + "primary ciliary dyskinesia 2" "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAAF3 gene." "" + "spermatogenic failure 3" "Any azoospermia in which the cause of the disease is a mutation in the SLC26A8 gene." "" + "non-syndromic male infertility due to sperm motility disorder" "Non-syndromic male infertility due to sperm motility disorder is a rare, genetic, non-syndromic male infertility disorder characterized by infertility due to sperm with defects in their cilia/flagella structure, leading to absent motility or reduced forward motility in fresh ejaculate. Reduced semen volume, oligospermia and an increased number of abnormally structured spermatozoa is often present." "" + "distal myopathy with anterior tibial onset" "" + "intellectual disability-obesity-prognathism-eye and skin anomalies syndrome" "" + "hemifacial myohyperplasia" "Hemifacial myohyperplasia (HMH) is a developmental disorder that frequently affects the right side of the face and is commonly seen in males. On the affected side of the face, there are usually enlarged tissues that lead to an abnormal jaw shape. Other features associated with HMH include enlargement of the brain, epilepsy, strabismus, genitourinary system disorders, intellectual disability, and dilation of the pupil on the affected side. Asymmetry of the face is more noticeable with age and remains until the end of adolescence when the asymmetry stabilizes. The cause of HMH is unknown; but theories suggest an imbalance in the endocrine system, neuronal abnormalities, chromosomal abnormalities, random events in twinning and fetal development, and vascular or lymphatic abnormalities." "" + "encephalopathy due to GLUT1 deficiency" "Glucose transporter type 1 (GLUT1) deficiency syndrome is characterized by an encephalopathy marked by childhood epilepsy that is refractory to treatment, deceleration of cranial growth leading to microcephaly, psychomotor retardation, spasticity, ataxia, dysarthria and other paroxysmal neurological phenomena often occurring before meals. Symptoms appear between the age of 1 and 4 months, following a normal birth and gestation." "" + "Crigler-Najjar syndrome type 2" "Type 2 Crigler-Najjar syndrome (CNS2) is a hereditary disorder of bilirubin metabolism characterized by unconjugated hyperbilirubinemia due to reduced and inducible activity of hepatic bilirubin glucuronosyltransferase (GT). CNS2 is a milder form of CNS than CNS1." "" + "peripheral arterial occlusive disease 1" "" + "anorexia nervosa, susceptibility to, 1" "" + "blepharospasm" "Involuntary twitching of the eyelid." "" + "stroke, susceptibility to, 1" "" + "fumaric aciduria" "Fumaric aciduria (FA), an autosomal recessive metabolic disorder, is most often characterized by early onset but non-specific clinical signs: hypotonia, severe psychomotor impairment, convulsions, respiratory distress, feeding difficulties and frequent cerebral malformations, along with a distinctive facies. Some patients present with only moderate intellectual impairment." "" + "familial digital arthropathy-brachydactyly" "Familial digital arthropathy-brachydactyly is characterised by the association of arthropathy of interphalangeal, metacarpophalangeal and metatarsophalangeal joints with brachydactyly of the middle and distal phalanges. It has been described in numerous members from five generations of one large family. Inheritance is autosomal dominant." "" + "parasomnia, sleep bruxism type" "" + "Cardioneuromyopathy with hyaline masses and nemaline rods" "" + "hyper-IgM syndrome type 3" "A form of Hyper IgM syndrome characterized by mutations of the CD40 gene. In this type, Immature B cells cannot receive signal 2 from helper T cells which is necessary to mature into mature B cells." "" + "Cree intellectual disability syndrome" "" + "parkinson disease 10" "" + "bilateral frontoparietal polymicrogyria" "Bilateral frontoparietal polymicrogyria (BFPP) is a sub-type of polymicrogyria (PMG), a cerebral cortical malformation characterized by excessive cortical folding and abnormal cortical layering, that involves the frontoparietal region of the brain and that presents with hypotonia, developmental delay, moderate to severe intellectual disability, pyramidal signs, epileptic seizures, non progressive cerebellar ataxia, dysconjugate gaze and/or strabismus." "" + "bilateral polymicrogyria" "Bilateral polymicrogyria is a rare cerebral malformation due to abnormal neuronal migration defined as a cerebral cortex with many excessively small convolutions. It presents with developmental delay, intellectual disability, seizures and various neurological impairments and may be isolated or comprise a clinical feature of many genetic syndromes. It may also be associated with perinatal cytomegalovirus infection." "" + "pancreatic cancer, susceptibility to, 1" "Any familial pancreatic carcinoma in which the cause of the disease is a mutation in the PALLD gene." "" + "Carney-Stratakis syndrome" "Carney-Stratakis syndrome is a recently described familial syndrome characterized by gastrointestinal stromal tumors (GIST) and paragangliomas, often at multiple sites." "" + "hirschsprung disease, susceptibility to, 6" "" + "hirschsprung disease, susceptibility to, 7" "" + "Alzheimer disease 4" "Alzheimer's disease with an early onset (starts before the age of 65). It is caused by mutations in the PSEN2 gene." "" + "primary intraosseous venous malformation" "Primary intraosseous venous malformation is a rare, genetic vascular anomaly characterized by severe blood vessel expansion (most frequently within the craniofacial bones) with painless bone enlargement (usually of mandibule, maxilla and/or orbital, nasal, and frontal bones), typically resulting in facial asymmetry and contour deformation. Midline abnormalities, such as diastasis recti, supraumbilical raphe, and hiatus hernia, are commonly associated. Additional features reported include gingival bleeding, ectopic tooth eruption, exophthalmos, loss of vision, nausea, and vomiting." "" + "infantile hemangioma of rare localization" "" + "duodenojejunal atresia with volvulus, absent dorsal mesentery, and absent superior mesenteric artery" "" + "symphalangism, distal, with microdontia, dental pulp stones, and narrowed zygomatic arch" "" + "dyslexia, susceptibility to, 5" "" + "Usher syndrome type 1G" "Any Usher syndrome in which the cause of the disease is a mutation in the USH1G gene." "" + "oculocutaneous albinism type 1B" "Oculocutaneous albinism type 1B (OCA1B) is a type of OCA1 characterized by skin and hair hypopigmentation, nystagmus, reduced iris and retinal pigment and misrouting of the optic nerves." "" + "obsolete insulinoma tumor suppressor gene locus" "" "true" + "COPD, severe early onset" "" + "nephronophthisis 4" "Any nephronophthisis in which the cause of the disease is a mutation in the NPHP4 gene." "" + "epilepsy, idiopathic generalized, susceptibility to, 2" "" + "familial hyperreninemic hypoaldosteronism type 2" "" + "familial hypoaldosteronism" "Aldosterone synthase deficiency is a rare inherited defect of the final step of aldosterone biosynthesis (conversion of deoxycorticosterone to aldosterone)." "" + "senior-loken syndrome 3" "" + "Senior-Loken syndrome 4" "Any Senior-Loken syndrome in which the cause of the disease is a mutation in the NPHP4 gene." "" + "brachydactyly type A1B" "" + "Hurler syndrome" "Hurler syndrome is the most severe form of mucopolysaccharidosis type 1 (MPS1), a rare lysosomal storage disease, characterized by skeletal abnormalities, cognitive impairment, heart disease, respiratory problems, enlarged liver and spleen, characteristic facies and reduced life expectancy." "" + "Hurler-Scheie syndrome" "Hurler-Scheie syndrome is the intermediate form of mucopolysaccharidosis type 1 (MPS1) between the two extremes Hurler syndrome and Scheie syndrome ; it is a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development." "" + "Scheie syndrome" "Scheie syndrome is the mildest form of mucopolysaccharidosis type 1 (MPS1), a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development." "" + "autosomal dominant nonsyndromic hearing loss 21" "An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 6p24.1-p22.3." "" + "autosomal recessive nonsyndromic hearing loss 22" "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the OTOA gene." "" + "T-box 24" "" + "autosomal dominant Parkinson disease 8" "Any Parkinson disease in which the cause of the disease is a mutation in the LRRK2 gene." "" + "multiple epiphyseal dysplasia type 5" "Multiple epiphyseal dysplasia type 5 is a multiple epiphyseal dysplasia characterized by an early-onset of pain and stiffness (involving knee and hip), progressive deformity of the extremities and precocious osteoarthritis associated with delayed and irregular ossification of epiphyses. Features specific to multiple epiphyseal dysplasia, type 5 include normal stature and lesser incidence of gait abnormalities. Radiographs reveal epiphyseal and metaphyseal irregularities. Multiple epiphyseal dysplasia type 5 follows an autosomal dominant mode of transmission." "" + "46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome" "" + "autosomal recessive nonsyndromic hearing loss 31" "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the WHRN gene." "" + "myasthenia gravis with thymus hyperplasia" "" + "obsolete familial aortic dissection" "" "true" + "aortic aneurysm, familial thoracic 2" "" + "distal spinal muscular atrophy type 3" "Distal spinal muscular atrophy type 3 is a rare neuromuscular disease characterized by progressive muscular weakness and atrophy predominantly affecting distal parts of limbs, later involvement of proximal and trunk muscles with marked hyperlordosis and late diaphragmatic dysfunction." "" + "B4GALT1-CDG" "B4GALT1-CDG is a congenital disorder of glycosylation characterised by macrocephaly due to Dandy-Walker malformation, hydrocephaly, hypotonia, myopathy and coagulation anomalies. To date, only one case has been reported. The syndrome is associated with mutations in the GALT1 gene (localised to region q13 of chromosome 9) leading to a deficiency in the Golgi apparatus enzyme beta-1,4-galactosyl transferase." "" + "anauxetic dysplasia" "A spondyloepimetaphyseal dysplasia that is characterized by the prenatal onset of extreme short stature, an adult height of less than 85 cm, hypodontia, and mild mental retardation." "" + "autosomal recessive nonsyndromic hearing loss 30" "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the MYO3A gene." "" + "nasopharyngeal carcinoma, susceptibility to, 1" "Any nasopharyngeal carcinoma in which the cause of the disease is a mutation in the TP53 gene." "" + "CINCA syndrome" "Chronic Infantile Neurological, Cutaneous, and Articular (CINCA) syndrome is characterised by skin rash, joint involvement, chronic meningitis with granulocytes and, in some cases, sensorineural hearing loss and ocular signs." "" + "Alzheimer disease 8" "An Alzheimer's disease that is characterized by an associated with variation in the region 20p12.2-q11.21." "" + "multiple epiphyseal dysplasia, Al-Gazali type" "Multiple epiphyseal dysplasia, Al-Gazali type is a skeletal dysplasia characterized by multiple epiphyseal dysplasia, macrocephaly and facial dysmorphism." "" + "laryngeal atresia, encephalocele, and limb deformities" "" + "specific language impairment 3" "" + "spinocerebellar ataxia type 17" "A rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by a variable clinical picture which can include dementia, psychiatric disorders, parkinsonism, dystonia, chorea, spasticity, and epilepsy." "" + "ALG12-CDG" "A form of congenital disorders of N-linked glycosylation characterized by facial dysmorphism (prominent forehead, large ears, thin upper lip), generalized hypotonia, feeding difficulties, moderate to severe developmental delay, progressive microcephaly, frequent upper respiratory tract infections due to impaired immunity with decreased immunoglobulin levels, and decreased coagulation factors. Additional features include hypogonadism with or without hypospadias in males, skeletal anomalies, seizures and cardiac anomalies in some cases. The disease is caused by loss of function mutations of the gene ALG12 (22q13.33)." "" + "Moyamoya disease 2" "Any Moyamoya disease in which the cause of the disease is a mutation in the RNF213 gene." "" + "hereditary spastic paraplegia 19" "Autosomal dominant spastic paraplegia type 19 is a pure form of hereditary spastic paraplegia characterized by a slowly progressive and relatively benign spastic paraplegia presenting in adulthood with spastic gait, lower limb hyperreflexia, extensor plantar responses, bladder dysfunction (urinary urgency and/or incontinence), and mild sensory and motor peripheral neuropathy." "" + "autosomal recessive limb-girdle muscular dystrophy type 2I" "Autosomal recessive limb-girdle muscular dystrophy type 2I (LGMD2I) is a subtype of autosomal recessive limb-girdle muscular dystrophy that presents a highly variable age of onset and phenotypic spectrum typically characterized by slowly progressive proximal weakness of the pelvic and shoulder girdle musculature (predominantly affecting the lower limbs), frequently associated with waddling gait, scapular winging, calf and tongue hypertrophy, exercise-induced myalgia, and myoglobinuria and/or elevated creatine kinase serum levels. Abdominal muscle weakness, cardiomyopathy, respiratory muscle involvement and various brain abnormalities have also been reported." "" + "cloverleaf skull-multiple congenital anomalies syndrome" "This newly described syndrome is characterized by cloverleaf skull, limb anomalies, facial dysmorphism and multiple congenital anomalies." "" + "familial meningioma" "A meningioma that is transmitted from the parents to an offspring." "" + "Amish lethal microcephaly" "Amish lethal microcephaly is a very rare syndrome characterized by extreme microcephaly and early death, within the first year." "" + "obsolete deafness, autosomal recessive" "" "true" + "thyroid dyshormonogenesis 6" "Any familial thyroid dyshormonogenesis in which the cause of the disease is a mutation in the DUOX2 gene." "" + "celiac disease, susceptibility to, 5" "" + "obsolete Dravet syndrome" "Dravet syndrome (DS) is a genetic epilepsy of childhood characterized by a variety of drug-resistant seizures often induced by fever, presenting in previously healthy children, and which frequently leads to cognitive and motor impairment." "" "true" + "anonychia-microcephaly syndrome" "Anonychia-microcephaly syndrome is a multiple congenital anomaly disorder characterized by anonychia congenita totalis and microcephaly, and normal intelligence along with some minor anomalies including single transverse palmar creases, fifth-finger clinodactyly and widely-spaced teeth." "" + "epilepsy, partial, with pericentral spikes" "" + "infantile-onset ascending hereditary spastic paralysis" "Infantile-onset ascending hereditary spastic paralysis (IAHSP) is a very rare motor neuron disease characterized by severe spasticity of the lower limbs in early life, progression of spasticity to the upper limbs in late childhood, and dysarthria." "" + "hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration" "" + "autosomal recessive nonsyndromic hearing loss 33" "An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 10p11.23-q21.1." "" + "glioma susceptibility 4" "" + "glioma susceptibility" "An inherited susceptibility or predisposition to developing glioma." "" + "spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1" "Spinocerebellar ataxia with axonal neuropathy type 1 is a rare, genetic neurological disorder characterized by a late childhood onset of slowly progressive cerebellar ataxia. Initial manifestations include weakness and atrophy of distal limb muscles, areflexia and loss of pain, vibration and touch sensations in upper and lower extremities. Gaze nystagmus, cerebellar dysarthria, peripheral neuropathy, stepagge gait and pes cavus develop as disease progresses. Cerebellar atrophy (especially of the vermis) is present in all affected individuals. Additional reported manifestations include seizures, mild brain atrophy, mild hypercholesterolemia and borderline hypoalbuminemia." "" + "spinocerebellar ataxia, autosomal recessive, with axonal neuropathy" "" + "hypercalciuria, absorptive, 1" "" + "hereditary spastic paraplegia 7" "Autosomal recessive spastic paraplegia type 7 is a form of hereditary spastic paraplegia characterized by an onset usually in adulthood (but ranging from 10-72 years) of progressive bilateral lower limb weakness and spasticity, sphincter dysfunction, decreased vibratory sense at the ankles and with additional manifestations including optical neuropathy, nystagmus, strabismus, decreased hearing, scoliosis, pes cavus, motor and sensory neuropathy, amyotrophy, blepharoptosis and ophthalmoplegia." "" + "autoimmune lymphoproliferative syndrome type 2B" "Autoimmune lymphoproliferative syndrome (ALPS) with recurrent viral infections is a rare genetic disorder characterized by lymphadenopathy and/or splenomegaly and recurrent infections due to herpes viruses." "" + "asthma-related traits, susceptibility to, 1" "Any inherited susceptibility to asthma in which the cause of the disease is a mutation in the PTGDR gene." "" + "osteofibrous dysplasia" "A benign, usually self-limited fibro-osseous lesion of the bone that affects infants and children. It usually arises from the cortical bone of the anterior mid-shaft of the tibia. Patients usually present with swelling or painless bowing of the tibia. Progression to adamantinoma has been reported in some cases." "" + "systemic lupus erythematosus with hemolytic anemia, susceptibility to, 1" "" + "cataract 27" "A cataract that has material basis in mutation in the region 2p12." "" + "obsolete mammographic density" "" "true" + "horizontal gaze palsy with progressive scoliosis" "Horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare congenital autosomal recessive disease, presenting in children and adolescents, and characterized by progressive scoliosis along with the absence of conjugate horizontal eye movements and associated with failure of the somatosensory and corticospinal neuronal tracts to decussate in the medulla." "" + "autosomal recessive cerebellar ataxia-saccadic intrusion syndrome" "Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome is a rare hereditary ataxia characterized by a progressive cerebellar ataxia associated with disruption of visual fixation by saccadic intrusions (overshooting horizontal saccades with macrosaccadic oscillations and increased velocity of larger saccades). It presents with progressive gait, trunk and limb ataxia with pyramidal tract signs (increased tendon reflexes and Babinski sign), myoclonic jerks, fasciculations, cerebellar dysarthria, sensorimotor axonal neuropathy with impaired joint position, vibration, temperature, pain sensations, pes cavus, and saccadic intrusions with characteristic overshooting horizontal saccades, macrosaccadic oscillations, and increased velocity of larger saccades, without other eye movement disturbances." "" + "Duane-radial ray syndrome" "A syndrome of multiple congenital anomalies and is characterized by ocular manifestations (uni- or bilateral Duane anomaly (95% of cases), congenital optic nerve hypoplasia or optic disc coloboma), bilateral deafness and radial ray malformation that can include thenar hypoplasia and/or hypoplasia or aplasia of the thumbs; hypoplasia or aplasia of the radii; shortening and radial deviation of the forearms; triphalangeal thumbs; and duplication of the thumb (preaxial polydactyly).The phenotype overlaps with other SALL4>/i> related disorders including acro-renal-ocular syndrome and Holt-Oram syndrome (see these terms). Transmission is autosomal dominant." "" + "polydactyly, postaxial, type A3" "" + "Smith-McCort dysplasia 1" "Any Smith-McCort dysplasia in which the cause of the disease is a mutation in the DYM gene." "" + "Smith-McCort dysplasia" "Smith-McCort dysplasia (SMC) is a rare spondylo-epi-metaphyseal dysplasia characterized by the clinical manifestations of coarse facies, short neck, short trunk dwarfism with barrel-shaped chest and rhizomelic limb shortening, as well as specific radiological features (i.e. generalized platyspondyly with double-humped vertebral end plates and iliac crests with a lace-like appearance) and normal intelligence. The clinical and skeletal features are similar to those seen in the allelic disorder Dyggve-Melchior-Clausen syndrome (DMC), but can be distinguished from this syndrome by the absence of intellectual deficiency and microcephaly in SMC." "" + "hypertension, essential, susceptibility to, 3" "" + "lathosterolosis" "Lathosterolosis is an extremely rare inborn error of sterol biosynthesis characterized by facial dysmorphism, congenital anomalies (including limb and kidney anomalies), failure to thrive, developmental delay and liver disease." "" + "coronary heart disease, susceptibility to, 1" "Any coronary artery disease in which the cause of the disease is a mutation in the CX3CR1 gene." "" + "isolated focal cortical dysplasia type II" "" + "isolated focal cortical dysplasia" "Isolated focal cortical dysplasia is a rare, genetic, non-syndromic cerebral malformation due to abnormal neuronal migration disorder characterized by variable-sized, focalized malformations located in any part(s) of the cerebral cortex, which manifests with drug-resistant epilepsy (usually leading to intellectual disability) and behavioral disturbances. Abnormal MRI findings (e.g. abnormal white and/or grey matter signal, blurred gray-white matter junction, localized volume loss, cortical thickening, abnormal gyral pattern, abnormal hippocampus) and variable histopathologic patterns are associated." "" + "spinocerebellar ataxia type 19/22" "Spinocerebellar ataxia type 19 (SCA19) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by mild cerebellar ataxia, cognitive impairment, low scores on the Wisconsin Card Sorting Test measuring executive function, myoclonus, and postural tremor." "" + "scoliosis, isolated, susceptibility to, 2" "" + "Meckel syndrome, type 3" "Any Meckel syndrome in which the cause of the disease is a mutation in the TMEM67 gene." "" + "Bartter disease type 3" "Classic Bartter syndrome is a type of Bartter syndrome, characterized by a milder clinical picture than the antenatal/infantile subtype, and presenting with failure to thrive, hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II." "" + "developmental malformations-deafness-dystonia syndrome" "Developmental malformations-deafness-dystonia syndrome is characterised by the association of midline malformations, sensory hearing loss, and a delayed-onset generalised dystonia syndrome." "" + "autism, susceptibility to, 8" "" + "streptococcus, group A, severity of infection by" "" + "glucocorticoid deficiency 2" "Any familial glucocorticoid deficiency in which the cause of the disease is a mutation in the MRAP gene." "" + "familial patent arterial duct" "Familial patent arterial duct is a rare, genetic, non-syndromic, congenital anomaly of the great arteries characterized by the presence of an isolated patent arterial duct (PDA) (i.e. failure of closure of ductus arteriosis after birth) in several members of the same family. Clinical presentation is similar to the sporadic form and may range from neonatal-onset tachypnea, diaphoresis and failure to thrive to adult-onset atrial arrhythmia, signs and symptoms of heart failure and cyanosis limited to the lower extremities." "" + "intellectual disability, autosomal recessive 2" "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the CRBN gene." "" + "coenzyme Q10 deficiency, primary, 1" "Any coenzyme Q10 deficiency in which the cause of the disease is a mutation in the COQ2 gene." "" + "Leigh syndrome with nephrotic syndrome" "" + "lissencephaly due to LIS1 mutation" "Lissencephaly due to LIS1 mutation is a cerebral malformation with epilepsy characterized predominantly by posterior isolated lissencephaly with developmental delay, intellectual disability and epilepsy that usually evolves from West syndrome to Lennox-Gastaut syndrome. Additional features include muscular hypotonia, acquired microcephaly, failure to thrive and poor control of airways leading to aspiration pneumonia." "" + "arrhythmogenic right ventricular dysplasia 8" "Any arrhythmogenic right ventricular cardiomyopathy in which the cause of the disease is a mutation in the DSP gene." "" + "autosomal dominant nonsyndromic hearing loss 44" "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the CCDC50 gene." "" + "spinocerebellar ataxia type 21" "Spinocerebellar ataxia type 21 (SCA21) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by slowly progressive cerebellar ataxia, mild cognitive impairment, postural and/or resting tremor, bradykinesia, and rigidity." "" + "spinocerebellar ataxia type 18" "Spinocerebellar ataxia type 18 (SCA18) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by sensory neuropathy and cerebellar ataxia." "" + "sensory ataxic neuropathy, dysarthria, and ophthalmoparesis" "A syndrome is characterised by adult-onset severe sensory ataxic neuropathy, dysarthria and chronic progressive external ophthalmoplegia." "" + "ataxia neuropathy spectrum" "" + "thyroid Hurthle cell carcinoma" "" + "vitamin K-dependent clotting factors, combined deficiency of, type 2" "Any congenital vitamin K-dependent coagulation factors combined deficiency in which the cause of the disease is a mutation in the VKORC1 gene." "" + "Bothnia retinal dystrophy" "A rare form of retinal dystrophy, seen mostly in Northern Sweden, presenting in early childhood with night blindness and progressive maculopathy with a decrease in visual acuity, eventually leading to blindness by adulthood. Retinal degeneration, without obvious bone spicule formation, accompanied by affected visual fields and the typical presence of retinitis punctata albescens in the posterior pole are also noted." "" + "Newfoundland cone-rod dystrophy" "Any cone-rod dystrophy in which the cause of the disease is a mutation in the RLBP1 gene." "" + "dilated cardiomyopathy 1M" "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the CSRP3 gene." "" + "biotin-responsive basal ganglia disease" "" + "Grn-related frontotemporal lobar degeneration with Tdp43 inclusions" "A frontotemporal dementia characterized by variable phenotypic expression typically including social, behavioral, or language deterioration, rather than memory or motor deficits and the presence of TARDBP-positive inclusions that has material basis in mutation in the GRN gene on chromosome 17q21.31." "" + "primary progressive aphasia" "Primary progressive aphasia (PPA) is a neurodegenerative disorder, characterized by a primary dissolution of language, with relative sparing of other mental faculties for at least the first 2 years of illness. PPA is recognized as the language variant in the frontotemporal dementia (FTD) spectrum of disorders. PPA can be classified into 3 subtypes based on specific speech and language features: semantic dementia (SD), progressive non-fluent aphasia (PNFA) and logopenic progressive aphasia (lv-PPA)." "" + "hypertrophic cardiomyopathy 25" "Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the TCAP gene." "" + "myoclonic dystonia 15" "A myoclonic dystonia characterized by autosomal dominant inheritance that has material basis in variation in the chromosome region 18p11." "" + "migraine with or without aura, susceptibility to, 3" "" + "bulimia nervosa, susceptibility to, 1" "" + "migraine without aura, susceptibility to, 4" "A migraine disorder characterized by episodes that occur in the absence of preceding focal neurological symptoms." "" + "migraine without aura" "A migraine disorder characterized by episodes that occur in the absence of preceding focal neurological symptoms." "" + "headache associated with sexual activity" "" + "psoriatic arthritis" "Joint inflammation associated with psoriasis." "" + "migraine with or without aura, susceptibility to, 5" "" + "migraine with or without aura, susceptibility to, 6" "" + "nonsyndromic congenital nail disorder 8" "Any inherited isolated nail anomaly in which the cause of the disease is a mutation in the COL7A1 gene." "" + "Camptosynpolydactyly, complex" "" + "secretory diarrhea, myopathy, and deafness" "" + "granular corneal dystrophy type II" "Type II granular corneal dystrophy (GCDII) is a rare form of stromal corneal dystrophy characterized by irregular-shaped well-demarcated granular deposits in the superficial central corneal stroma, and progressive visual impairment." "" + "spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome" "" + "atrial fibrillation, familial, 3" "Any familial atrial fibrillation in which the cause of the disease is a mutation in the KCNQ1 gene." "" + "familial atrial fibrillation" "An autosomal dominant heart condition that causes disruptions in the heart's normal rhythm. This condition is characterized by uncoordinated electrical activity in the heart's upper chambers (the atria), which causes the heartbeat to become fast and irregular." "" + "spastic paraplegia, ataxia, and intellectual disability" "" + "obsolete distal myopathy with early respiratory muscle involvement" "" "true" + "leprosy, susceptibility to, 2" "" + "breath-holding Spells" "" + "hereditary spastic paraplegia 24" "A hereditary spastic paraplegia that has material basis in variation in the chromosome region 13q14." "" + "prostate cancer aggressiveness quantitative trait locus on chromosome 19" "" + "immunodeficiency, common variable, 1" "" + "obsolete COL4A1-related familial vascular leukoencephalopathy" "A brain disease characterized by autosomal dominant inheritance of fragile small blood vessels in the brain, leukoencephalopathy, increased risk of stroke, seizure and migraine and in some cases Axenfeld-Riegar anomaly that has material basis in heterozygous mutation in the COL4A1 gene on chromosome 13q34." "" "true" + "pontocerebellar hypoplasia type 1A" "Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the VRK1 gene." "" + "pontocerebellar hypoplasia type 1" "Pontocerebellar hypoplasia type 1 (PCH1), also known as Norman's disease, is a clinically and genetically heterogeneous group of autosomal recessive disorders with a prenatal onset characterized by diffuse muscular atrophy secondary to pontocerebellar hypoplasia and spinal cord anterior horn cell degeneration resulting in early death." "" + "microphthalmia with cyst, bilateral facial clefts, and limb anomalies" "" + "lethal congenital contracture syndrome 2" "Lethal congenital contracture syndrome type 2 is a rare arthrogryposis syndrome characterized by multiple congenital contactures (typically extended elbows and flexed knees), micrognathia, anterior horn cell degeneration, skeletal muscle atrophy (mainly in the lower limbs), presence of a markedly distended urinary bladder and absence of hydrops, pterygia and bone fractures. Other craniofacial (e.g. cleft palate, facial palsy) and ocular (e.g. anisocoria, retinal detachment) anomalies may be additionally observed. The disease is usually neonatally lethal however, survival into adolescence has been reported." "" + "epidermolysis bullosa simplex superficialis" "Epidermolysis bullosa simplex superficialis (EBSS) is a suprabasal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized or acral superficial erosions in the absence of blisters." "" + "annular epidermolytic ichthyosis" "Annular epidermolytic ichthyosis (AEI) is a rare clinical variant of epidermolytic ichthyosis (EI) characterized by the presence of a blistering phenotype at birth and the development from early infancy of annular polycyclic erythematous scales on the trunk and extremities." "" + "autosomal dominant epidermolytic ichthyosis" "" + "Niemann-Pick disease type B" "Niemann-Pick disease type B is a mild subtype of Niemann-Pick disease, an autosomal recessive lysosomal disease, and is characterized clinically by onset in childhood with hepatosplenomegaly, growth retardation, and lung disorders such as infections and dyspnea" "" + "Griscelli syndrome type 2" "Griscelli syndrome type 2 (GS2) is a rare, inherited condition that affects the skin, hair, and immune system. People with GS2 have unusually light skin and silver-colored hair. They are also prone to recurrent infections and develop an immune condition called hemophagocytic lymphohistiocytosis (HLH). HLH can damage organs and tissues throughout the body, causing life-threatening complications. GS2 is caused by changes (mutations) in the RAB27A gene and is inherited in an autosomal recessive manner. The only current treatment that can extend survival is stem cell transplantation (a bone marrow transplant). Untreated, most children with GS2 do not survive past early childhood." "" + "Niemann-Pick disease, type C2" "Niemann-Pick disease type C2 is a rare metabolic condition that affects many different parts of the body. Although signs and symptoms can develop at any age (infancy through adulthood), most affected people develop features of the condition during childhood. Neimann-Pick disease type C2 may be characterized by ataxia (difficulty coordinating movements), vertical supranuclear gaze palsy (inability to move the eyes vertically), poor muscle tone, hepatosplenomegaly (enlarged liver and spleen), interstitial lung disease, intellectual decline, seizures, speech problems, and difficulty swallowing. Niemann-Pick disease type C2 is caused by changes (mutations) in the NPC2 gene and is inherited in an autosomal recessive manner. There is, unfortunately, no cure for Niemann-Pick disease type C2. Treatment is based on the signs and symptoms present in each person." "" + "neonatal ichthyosis-sclerosing cholangitis syndrome" "Neonatal ichthyosis-sclerosing cholangitis (NISCH syndrome) is a very rare complex ichthyosis syndrome characterized by scalp hypotrichosis, scarring alopecia, ichthyosis and sclerosing cholangitis." "" + "sclerosing cholangitis" "A chronic, autoimmune inflammatory liver disorder characterized by narrowing and scarring of the lumen of the bile ducts. It is often seen in patients with ulcerative colitis. Signs and symptoms include jaundice, fatigue, and malabsorption. It may lead to cirrhosis and liver failure." "" + "epilepsy, idiopathic generalized, susceptibility to, 11" "An inherited susceptibility or predisposition to developing epilepsy, idiopathic generalized, in which the cause of the disease is a mutation in the CLCN2 gene." "" + "juvenile absence epilepsy" "Juvenile absence epilepsy (JAE) is a genetic epilepsy with onset occurring around puberty. JAE is characterized by sporadic occurrence of absence seizures, frequently associated with a long-life prevalence of generalized tonic-clonic seizures (GTCS) and sporadic myoclonic jerks." "" + "autosomal dominant osteopetrosis 1" "Autosomal dominant osteopetrosis type I (ADO I) is a sclerosing bone disorder characterized by skeletal densification that predominantly involves the cranial vault." "" + "Worth syndrome" "A hyperostosis that has material basis in a mutation in the LRP5 gene which results in increased bone density and bony structures located in palate." "" + "neuronopathy, distal hereditary motor, type 7B" "Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the DCTN1 gene." "" + "candidiasis, familial, 3" "" + "keratosis palmoplantaris striata 3" "Any striate palmoplantar keratoderma in which the cause of the disease is a mutation in the KRT1 gene." "" + "skin fragility-woolly hair-palmoplantar keratoderma syndrome" "" + "Curly hair - acral keratoderma - caries syndrome" "Curly hair-acral keratoderma-caries syndrome is an extremely rare ectodermal dysplasia syndrome characterized by premature loss of curly, brittle, dry hair, premature loss of teeth due to caries, nail dystrophy with thickening of the finger- and toe-nails, acral keratoderma and hypohidrosis. Additionally, sparse eyebrows and eyelashes, receding frontal hairline and flattened malar region are associated. The severity of features appears to increase with age." "" + "hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome" "Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome is an extremely rare ectodermal dysplasia syndrome characterized by hypotrichosis universalis with mild to severe scarring alopecia, acro-osteolysis, onychogryphosis, thin and tapered fingertips, periodontitis and caries leading to premature teeth loss, linear or reticular palmoplantar keratoderma and erythematous, scaling, psoriasis-like skin lesions on arms and legs. Lingua plicata and ventricular tachycardia have also been observed." "" + "tubulointerstitial nephritis and uveitis syndrome" "An autoimmune disorder comprising tubulointerstitial nephritis and uveitis." "" + "torsion dystonia 13" "DYT13 type primary dystonia is characterized by focal or segmental dystonia with cranial, cervical, or upper limb involvement." "" + "cataract, congenital, with mental impairment and dentate gyrus atrophy" "" + "immunodeficiency 67" "An immunodeficiency associated with increased susceptibility to invasive infections caused by pyogenic bacteria." "" + "Charcot-Marie-Tooth disease type 2I" "Autosomal dominant Charcot-Marie-Tooth disease type 2I (CMT2I) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by a late onset with severe sensory loss (paresthesia and hypoesthesia) associated with distal weakness, mainly of the legs, and absent or reduced deep tendon reflexes." "" + "Charcot-Marie-Tooth disease type 1D" "A form of CMT1, caused by mutations in the EGR2 gene (10q21.1), with a variable severity and age of onset (from infancy to adulthood), that usually presents with gait abnormalities, progressive wasting and weakness of distal limb muscles, with possible later involvement of proximal muscles, foot deformity and severe reduction in nerve conduction velocity. Additional features may include scoliosis, cranial nerve deficits such as diplopia, and bilateral vocal cord paresis." "" + "febrile seizures, familial, 8" "A childhood absence epilepsy that is characterized by mutations in the GABRG2 gene, which cause a spectrum of seizure disorders, ranging from early-onset isolated febrile seizures (FS) to childhood absence epilepsy (CAE) to generalized epilepsy with febrile seizures plus, type 3 (GEFS+3), which tends to represent a more severe phenotype." "" + "epilepsy, idiopathic generalized, susceptibility to, 9" "Any generalised epilepsy in which the cause of the disease is a mutation in the CACNB4 gene." "" + "autosomal dominant nonsyndromic hearing loss 52" "An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 5q31.1-q32." "" + "Charcot-Marie-Tooth disease type 2E" "Autosomal dominant Charcot-Marie-Tooth disease type 2E (CMT2E) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2E onset is in the first to 6th decade with a gait anomaly and a leg weakness that reaches the arms secondarily. Tendon reflexes are reduced or absent and, after years, all patients have a pes cavus. Other signs may be present, including hearing loss and postural tremor." "" + "idiopathic hypereosinophilic syndrome" "" + "Parkinson disease 11, autosomal dominant, susceptibility to" "Any hereditary late onset Parkinson disease in which the cause of the disease is a mutation in the GIGYF2 gene." "" + "leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome" "Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome is characterised by ataxia, delayed dentition, hypomyelination and cerebral atrophy. So far, eight cases have been described." "" + "hypomyelinating leukodystrophy with or without oligondontia and/or hypogonadism" "True" + "Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive" "" + "Noonan syndrome-like disorder with loose anagen hair" "Noonan-like syndrome with loose anagen hair (NS/LAH) is a Noonan-related syndrome, characterized by facial anomalies suggestive of Noonan syndrome ; a distinctive hair anomaly described as loose anagen hair syndrome ; frequent congenital heart defects; distinctive skin features with darkly pigmented skin, keratosis pilaris, eczema or occasional neonatal ichtyosis ; and short stature, often associated with a GH deficiency and psychomotor delays." "" + "porokeratosis 4, disseminated superficial actinic type" "" + "Charcot-Marie-Tooth disease axonal type 2H" "Charcot-Marie-Tooth disease, type 2H (CMT2H, also referred to as CMT4C2) is an axonal CMT peripheral sensorimotor polyneuropathy associated with pyramidal involvement." "" + "Charcot-Marie-Tooth disease type 1F" "A form of CMT1, with a variable clinical presentation that can range from severe impairment with onset in childhood to mild impairment appearing during adulthood. CMT1F is characterized by a progressive peripheral motor and sensory neuropathy with distal paresis in the lower limbs that varies from mild weakness to complete paralysis of the distal muscle groups, absent tendon reflexes and reduced nerve conduction. CMT1F represents the ''demyelinating'' form of CMT2E and is caused by mutations in the NEFL gene (8p21.2).." "" + "Charcot-Marie-Tooth disease type 2J" "Autosomal dominant Charcot-Marie-Tooth disease type 2J (CMT2J) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by a relatively late onset, pupillary abnormalities and deafness, in most patients, associated with distal weakness and muscle atrophy." "" + "seizures, benign familial infantile, 3" "Any benign familial infantile epilepsy in which the cause of the disease is a mutation in the SCN2A gene." "" + "obsolete familial hypercholanemia" "" "true" + "congenital bile acid synthesis defect 1" "Congenital bile acid synthesis defect type 1 (BAS defect type 1) is the most common anomaly of bile acid synthesis characterized by variable manifestations of progressive cholestatic liver disease, and fat malabsorption." "" + "acrocapitofemoral dysplasia" "Acrocapitofemoral dysplasia is a recently delineated skeletal dysplasia, characterized clinically by short stature of variable degrees with short limbs, brachydactyly and narrow thorax." "" + "juvenile myelomonocytic leukemia" "A myelodysplastic/myeloproliferative neoplasm of childhood that is characterized by proliferation principally of the granulocytic and monocytic lineages. Myelomonocytic proliferation is seen in the bone marrow and the blood. The leukemic cells may infiltrate any tissue, however liver, spleen, lymph nodes, skin, and respiratory tract are the most common sites of involvement. (WHO, 2001)" "" + "chronic myelomonocytic leukemia" "A myelodysplastic/myeloproliferative neoplasm which is characterized by persistent monocytosis, absence of a Philadelphia chromosome and BCR/ABL fusion gene, fewer than 20 percent blasts in the bone marrow and blood, myelodysplasia, and absence of PDGFRA or PDGFRB rearrangement." "" + "obsolete autosomal dominant limb-girdle muscular dystrophy type 1C" "" "true" + "craniolenticulosutural dysplasia" "Craniolenticulosutural dysplasia (CLSD), also known as Boyadjiev-Jabs syndrome, is characterized by the specific association of large and late-closing fontanels, hypertelorism, early-onset cataract and mild generalized skeletal dysplasia." "" + "autosomal recessive nonsyndromic hearing loss 37" "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the MYO6 gene." "" + "Alzheimer disease 3" "Alzheimer's disease with an early onset (starts before the age of 65). It is caused by mutations in the PSEN1 gene." "" + "hypotrichosis-lymphedema-telangiectasia syndrome" "" + "mitral valve prolapse, myxomatous 2" "" + "Charcot-Marie-Tooth disease axonal type 2K" "Autosomal recessive Charcot-Marie-Tooth disease with hoarseness (ARCMT2K or CMT4C4) is a severe early-onset form of axonal CMT peripheral sensorimotor polyneuropathy." "" + "focal segmental glomerulosclerosis 3, susceptibility to" "Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the CD2AP gene." "" + "anxiety" "" + "autoimmune disease, susceptibility to, 1" "Any autoimmune disease in which the cause of the disease is a mutation in the FOXD3 gene." "" + "autosomal dominant nonsyndromic hearing loss 48" "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the MYO1A gene." "" + "aural atresia, congenital" "" + "nonimmune chronic idiopathic neutropenia of adults" "" + "osteoarthritis susceptibility 3" "Any osteoarthritis in which the cause of the disease is a mutation in the ASPN gene." "" + "panic disorder 2" "" + "congenital merosin-deficient muscular dystrophy 1A" "Congenital muscular dystrophy type 1A (MCD1A) belongs to a group of neuromuscular disorders with onset at birth or infancy characterized by hypotonia, muscle weakness and muscle wasting." "" + "LAMA2-related muscular dystrophy" "Any muscular dystrophy in which the cause of the disease is a mutation in the LAMA2 gene." "" + "psoriasis 9, susceptibility to" "" + "tufted angioma" "Tufted angioma is a very rare, benign, cutaneous, slow-growing, vascular tumor mostly developing in infancy or early childhood." "" + "caudal duplication" "Caudal duplication (CD) is a rare developmental anomaly in which structures derived from the embryonic cloaca and notochord are duplicated to varying extents." "" + "chromosome 1p36 deletion syndrome" "A chromosomal anomaly characterized by distinctive facial dysmorphic features, hypotonia, developmental delay, intellectual disability, seizures, heart defects, hearing impairment and prenatal onset growth deficiency." "" + "partial deletion of the short arm of chromosome 1" "Chromosome 1p deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the short arm (p) of chromosome 1. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 1p deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person." "" + "epilepsy, familial adult myoclonic, 2" "Any epilepsy, familial adult myoclonic in which the cause of the disease is a mutation in the ADRA2B gene." "" + "ovarian cancer, susceptibility to, 1" "" + "hypotrichosis 6" "Any hypotrichosis in which the cause of the disease is a mutation in the DSG4 gene." "" + "ALG2-CDG" "A form of congenital disorders of N-linked glycosylation characterized by iris coloboma, cataract, infantile spasms, developmental delay and abnormal coagulation factors. The disease is caused by loss-of-function mutations in the gene ALG2 (9q31.1). Transmission is autosomal recessive." "" + "dermatofibrosarcoma protuberans" "Dermatofibrosarcoma protuberans (DFSP) is a rare infiltrating soft tissue sarcoma, generally of low grade malignancy, arising from the dermis of the skin and characteristically associated with a specific chromosomal translocation t(17;22)." "" + "retinitis pigmentosa 30" "Any retinitis pigmentosa in which the cause of the disease is a mutation in the FSCN2 gene." "" + "microphthalmia with brain and digit anomalies" "Microphthalmia with brain and digit anomalies is characterised by anophthalmia or microphthalmia, retinal dystrophy, and/or myopia, associated in some cases with cerebral anomalies. It has been described in two families. Polydactyly may also be present. Linkage analysis allowed identification of mutations in the BMP4 gene, which has already been shown to play a role in eye development." "" + "peeling skin syndrome 4" "Any peeling skin syndrome in which the cause of the disease is a mutation in the CSTA gene." "" + "atrial septal defect 2" "Any atrial heart septal defect in which the cause of the disease is a mutation in the GATA4 gene." "" + "Spondyloenchondrodysplasia with immune dysregulation" "" + "mycobacterium tuberculosis, susceptibility to" "" + "mycobacterium tuberculosis, susceptibility to, 1" "" + "systemic lupus erythematosus with nephritis, susceptibility to, 1" "" + "systemic lupus erythematosus with nephritis, susceptibility to, 2" "" + "systemic lupus erythematosus with nephritis, susceptibility to, 3" "" + "Gaucher disease perinatal lethal" "Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD)." "" + "diaphanospondylodysostosis" "Diaphanospondylodysostosis is characterized by absent ossification of the vertebral bodies and sacrum associated with variable anomalies. It has been described in less than ten patients from different families. Manifestations include a short neck, a short wide thorax, a reduced number of ribs, a narrow pelvis, and inconstant anomalies such as myelomeningocele, cystic kidneys with nephrogenic rests, and cleft palate." "" + "obsolete HNP1" "" "true" + "pontocerebellar hypoplasia type 3" "Pontocerebellar hypoplasia type 3 (PCH3), also known as cerebellar atrophy with progressive microcephaly (CLAM) is a rare form of pontocerebellar hypoplasia with autosomal recessive transmission characterized neonatally by hypotonia and impaired swallowing and from infancy onward by seizures, optic atrophy and short stature, but none of the clinical findings are specific for PCH3." "" + "Thai symphalangism syndrome" "" + "infantile-onset autosomal recessive nonprogressive cerebellar ataxia" "" + "amyotrophic lateral sclerosis type 6" "Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the FUS gene." "" + "amyotrophic lateral sclerosis type 7" "" + "familial acute necrotizing encephalopathy" "Familial acute necrotizing encephalopathy or ADANE is a potentially fatal neurological disease characterised by neuropathological lesions principally involving the brainstem, thalamus and putamen." "" + "melanoma, cutaneous malignant, susceptibility to, 4" "" + "diabetes mellitus, noninsulin-dependent, 4" "" + "autism, susceptibility to, 3" "" + "retinal macular dystrophy type 2" "Retinal macular dystrophy type 2 is a rare, genetic macular dystrophy disorder characterized by slowly progressive ''bull's eye'' maculopathy associated, in most cases, with mild decrease in visual acuity and central scotomata. Usually, only the central retina is involved, however some cases of more widespread rod and cone anomalies have been reported. Rare additional features include empty sella turcica, impaired olfaction, renal infections, hematuria and recurrent miscarriages." "" + "bile and pancreatic ducts, complete absence of" "" + "sweet syndrome" "Sweet's syndrome (the eponym for acute febrile neutrophilic dermatosis) is characterized by a constellation of clinical symptoms, physical features, and pathologic findings which include fever, neutrophilia, tender erythematous skin lesions (papules, nodules, and plaques), and a diffuse infiltrate consisting predominantly of mature neutrophils that are typically located in the upper dermis." "" + "schizophrenia 11" "A schizophrenia that has material basis in a mutation on chromosome 10q22.3." "" + "hereditary sensory and autonomic neuropathy type 1B" "Hereditary sensory and autonomic neuropathy, type 1B (HSAN1B) is characterized by the association of type 1 HSAN with paroxysmal cough and gastroesophageal reflux (GOR)." "" + "Joubert syndrome 2" "Any Joubert syndrome in which the cause of the disease is a mutation in the TMEM216 gene." "" + "DPAGT1-CDG" "DPAGT1-CDG is a form of congenital disorders of N-linked glycosylation characterized by hypotonia, intractable seizures, developmental delay, microcephaly and severe fetal hypokinesia. Additional features that may be observed include apnea and respiratory deficiency, cataracts, joint contractures, vermian hypoplasia, dysmorphic features (esotropia, arched palate, micrognathia, finger clinodactyly, single flexion creases) and feeding difficulties. The disease is caused by loss-of-function mutations in the gene DPAGT1 (11q23.3)." "" + "familial temporal lobe epilepsy 2" "A temporal lobe epilepsy characterized by autosomal dominant inheritance of complex or partial seizures and childhood febrile seizures that has material basis in variation in the chromosome region 12q22-q23.3." "" + "periventricular heterotopia with microcephaly, autosomal recessive" "" + "heterotopia, periventricular, associated with chromosome 5P anomalies" "" + "autosomal recessive limb-girdle muscular dystrophy type 2D" "Autosomal recessive limb-girdle muscular dystrophy type 2D (LGMD2D) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by childhood onset of progressive proximal weakness of the shoulder and pelvic girdle muscles, resulting in difficulty walking, scapular winging, calf hypertrophy and contractures of the Achilles tendon, which lead to a tiptoe gait pattern. Cardiac and respiratory involvement is rare." "" + "qualitative or quantitative defects of alpha-sarcoglycan" "" + "ALG8-CDG" "A form of congenital disorders of N-linked glycosylation that is characterized by gastrointestinal symptoms (diarrhea, vomiting, feeding problems with failure to thrive, protein-losing enteropathy), edema and ascites (including hydrops fetalis), hepatomegaly, renal tubulopathy, coagulation anomalies due to thrombocytopenia, brain involvement (psychomotor delay, seizures, ataxia), facial dysmorphism (low-set ears and retrognathia), pes equinovarus, and muscular hypotonia. Cataracts may also be observed. Prognosis is usually poor. The disease is caused by loss-of-function mutations in the gene ALG8 (11q14.1), resulting in a block in the initial step of protein glycosylation." "" + "rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome" "" + "hyper-IgM syndrome type 5" "Any hyper-IgM syndrome in which the cause of the disease is a mutation in the UNG gene." "" + "ovarian hyperstimulation syndrome" "A complication of ovulation induction in infertility treatment. It is graded by the severity of symptoms which include ovary enlargement, multiple ovarian follicles; ovarian cysts; ascites; and generalized edema. The full-blown syndrome may lead to renal failure, respiratory distress, and even death. Increased capillary permeability is caused by the vasoactive substances, such as vascular endothelial growth factors, secreted by the overly-stimulated ovaries." "" + "zinc deficiency, transient neonatal" "" + "retinitis pigmentosa 7" "A retinitis pigmentosa that has material basis in mutation in the PRPH2 gene on chromosome 6p21." "" + "paternal uniparental disomy of chromosome 14" "" + "multiple congenital anomalies due to 14q32.2 maternally expressed gene defect" "Kagami-Ogata syndrome is a rare genetic disease characterized by polyhydramnios (mostly due to placentomegaly), fetal macrosomia, abdominal wall defects, skeletal abnormalities (including bell-shaped thorax, coat-hanger appearance of the ribs and decreased mid to wide thorax diameter ratio in infancy), feeding difficulties and impaired swallowing, dysmorphic features (hairy forehead, full cheeks, protruding philtrum, micrognathia), developmental delay and intellectual disability. Additional features may include kyphoskoliosis, joint contractures, diastasis recti, muscular hypotonia. There is increased risk of hepatoblastoma." "" + "uniparental disomy of paternal origin" "" + "uniparental disomy" "A condition characterized by the inheritance of a chromosome pair from one parent and no chromosomal copies from the other parent. It results in developmental abnormalities or rare recessive disorders." "" + "lipodystrophy-intellectual disability-deafness syndrome" "Lipodystrophy-intellectual disability-deafness syndrome is an extremely rare form of genetic lipodystrophy, reported in 3 patients from one family to date, characterized by generalized congenital lipodystrophy, low birth weight, progressive sensorineural deafness occurring in childhood, intellectual deficit, progressive osteopenia, delayed skeletal maturation, skeletal abnormalities described as slender, undermineralized tubular bones, and dense metaphyseal striations in the distal femur, ulna and radius of older patients. Autosomal recessive inheritance has been suggested." "" + "8q22.1 microdeletion syndrome" "The 8q22.1 microdeletion syndrome or Nablus mask-like facial syndrome is a rare microdeletion syndrome associated with a distinct facial appearance." "" + "CoQ-responsive OXPHOS deficiency" "" + "autoimmune thyroid disease, susceptibility to, 1" "" + "autoimmune thyroid disease, susceptibility to, 2" "" + "autoimmune thyroid disease, susceptibility to, 3" "" + "autoimmune thyroid disease, susceptibility to, 4" "" + "synpolydactyly type 2" "Any non-syndromic synpolydactyly in which the cause of the disease is a mutation in the FBLN1 gene." "" + "hyper-IgM syndrome type 4" "A form of Hyper IgM syndrome which is a defect in class switch recombination downstream of the AICDA gene that does not impair somatic hypermutation." "" + "tropical pancreatitis" "Tropical pancreatitis is a rare pancreatic disease of juvenile onset occurring mainly in tropical developing countries and characterized by chronic non-alcoholic pancreatitis manifesting with abdominal pain, steatorrhea and fibrocalculous pancreatopathy. It is also commonly associated with the development of pancreatic calculi and pancreatic cancer at a much higher frequency than seen in ordinary chronic pancreatitis." "" + "cone-rod dystrophy 13" "Any cone-rod dystrophy in which the cause of the disease is a mutation in the RPGRIP1 gene." "" + "neutrophil immunodeficiency syndrome" "A primary immunodeficiency characterized by neutrophilia with severe neutrophil dysfunction, leukocytosis, a predisposition to bacterial infections and poor wound healing, including an absence of pus in infected areas." "" + "seizures, benign familial neonatal, 3" "" + "autosomal recessive nonsyndromic hearing loss 38" "An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 6q26-q27." "" + "hereditary spastic paraplegia 25" "Autosomal recessive spastic paraplegia type 25 (SPG25) is a rare, complex type of hereditary spastic paraplegia characterized by adult-onset spastic paraplegia associated with spinal pain that radiates to the upper or lower limbs and is related to disk herniation (with minor spondylosis), as well as mild sensorimotor neuropathy. The SPG25 phenotype has been mapped to a locus on chromosome 6q23-q24.1." "" + "aspirin resistance" "" + "autosomal dominant nonsyndromic hearing loss 41" "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the P2RX2 gene." "" + "cataract - congenital heart disease - neural tube defect syndrome" "Cataract-congenital heart disease-neural tube defect syndrome is a multiple congenital anomaly syndrome characterized by sacral neural tube defects resulting in tethered cord, atrial and/or ventricular septal heart defects (that are detected in infancy), bilateral, symmetrical hyperopia, rapidly progressive early childhood cataracts, bilateral aphakic glaucoma, and abnormal facial features (low frontal hairline, small ears, short philtrum, prominent, widely spaced central incisors, and micrognathia). hypotonia, growth and developmental delay, seizures, and joint limitation are also reported." "" + "Hermansky-Pudlak syndrome 2" "A type of Hermansky-Pudlak syndrome (HPS), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and neutropenia." "" + "autosomal dominant slowed nerve conduction velocity" "Autosomal dominant slowed nerve conduction velocity is a hereditary demyelinating motor and sensory neuropathy characterized by slowed nerve conduction velocities, in the absence of clinically apparent neurological deficits, gait abnormalities or muscular atrophy, associated with a germline mutation in the ARGHEF10 gene." "" + "otosclerosis 3" "" + "mandibulofacial dysostosis with ptosis, autosomal dominant" "" + "autosomal recessive nonsyndromic hearing loss 40" "An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 22q11.21-q12.1." "" + "autosomal recessive nonsyndromic hearing loss 39" "An autosomal recessive disorder caused by mutations in the HGF gene, encoding hepatocyte growth factor receptor. It is characterized by profound deafness." "" + "parathyroid gland carcinoma" "Parathyroid carcinoma (PRTC) is a very rare, slow-growing, clinically serious endocrine tumor that generally develops in mid-adulthood. PRTC presents as a palpable painless mass in the neck and causes severe hypercalcemia and related symptoms, non-specific gastrointestinal manifestations, as well as renal and bone complications related to primary hyperparathyroidism (nephrolithiasis, impaired renal function, osteoporosis, bone pain, and pathologic fractures, etc.). Some PRTCs are however non-functioning tumors." "" + "malignant tumor of parathyroid gland" "A cancer that involves the parathyroid gland." "" + "growth failure, microcephaly, intellectual disability, cataracts, large joint contractures, osteoporosis, cortical dysplasia, and cerebellar atrophy" "" + "craniosynostosis with ocular abnormalities and hallucal defects" "" + "scimitar anomaly, multiple cardiac malformations, and craniofacial and central nervous system abnormalities" "" + "Lelis syndrome" "Lelis syndrome is characterised by the association of ectodermal dysplasia (hypotrichosis and hypohidrosis) with acanthosis nigricans." "" + "coronary heart disease, susceptibility to, 2" "" + "coronary heart disease, susceptibility to, 4" "" + "coronary artery disease, autosomal dominant, 1" "Any coronary artery disease in which the cause of the disease is a mutation in the MEF2A gene." "" + "Charcot-Marie-Tooth disease dominant intermediate C" "Autosomal dominant intermediate Charcot-Marie-Tooth disease type C is a rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 60 m/s). It presents with moderately severe, slowly progressive usual clinical features of Charcot-Marie-Tooth disease (muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, feet deformities, extensor digitorum brevis atrophy). Findings in nerve biopsies include age-dependent axonal degeneration, reduced number of large myelinated fibres, segmental remyelination, and no onion bulbs." "" + "glaucoma-ectopia-microspherophakia-stiff joints-short stature syndrome" "Glaucoma-ectopia-microspherophakia-stiff joints-short stature syndrome is characterized by progressive joint stiffness, glaucoma, short stature and lens dislocation. It has been described in three members of a family (the grandfather, his daughter and grandson). It is likely to be transmitted as an autosomal dominant trait. The acronym GEMSS (Glaucoma, Ectopia, Microspherophakia, Stiff joints, Short stature) was proposed as a name for the syndrome. This syndrome shows similarities to Moore-Federman syndrome." "" + "autosomal recessive intermediate Charcot-Marie-Tooth disease" "Autosomal recessive form of intermediate Charcot-Marie-Tooth disease." "" + "nystagmus 3, congenital, autosomal dominant" "" + "capillary malformation-arteriovenous malformation syndrome" "This syndrome is characterised by the association of multiple capillary malformations (CM) with an arteriovenous malformation (AVM) and arteriovenous fistulas." "" + "Parkes Weber syndrome" "Parkes Weber syndrome (PWS) is a rare congenital condition characterized by a large number of abnormal blood vessels.The main signs and symptoms of PWS typically include a capillary malformation on the skin; hypertrophy (excessive growth) ofthe bone and soft tissue of the affected limb; and multiple arteriovenousfistulas (abnormal connections between arteries and veins) which canpotentially lead to heart failure. There also may be pain in the affected limb and a difference in size between the limbs. Some cases of Parkes Weber syndrome result from mutations inthe RASA1 gene, andare inherited in an autosomal dominant manner. In these cases, affected people usually have multiple capillary malformations. People with PWS without multiple capillary malformations are unlikely to have mutations in the RASA1 gene; in these cases, the cause of the condition is often unknown. Management typically depends on the presence and severity of symptoms and may includeembolization or surgery in the affected limb." "" + "myopathy, myosin storage, autosomal dominant" "" + "spondyloepiphyseal dysplasia, Kimberley type" "Spondyloepiphyseal dysplasia, Kimberley type (SEDK) is characterized by short stature and premature degenerative arthropathy." "" + "aggrecan-related bone disorder" "" + "chromosome 22q11.2 microduplication syndrome" "The newly described 22q11.2 microduplication syndrome (dup22q11 syndrome) is the association of a broad clinical spectrum and a duplication of the region that is deleted in patients with DiGeorge or velocardiofacial syndrome (DG/VCFS), establishing a complementary duplication syndrome." "" + "partial duplication of the long arm of chromosome 22" "" + "myopia 17, autosomal dominant" "" + "orofacial cleft 4" "" + "autosomal dominant nonsyndromic hearing loss 49" "An autosomal dominant nonsyndromic deafness that is characterized by moderate loss for low and mid frequencies and mild loss for high frequencies and has material basis in variation in the chromosome region 1q21-q23." "" + "retinitis pigmentosa 26" "Any retinitis pigmentosa in which the cause of the disease is a mutation in the CERKL gene." "" + "branchiootic syndrome 3" "Any branchiootic syndrome in which the cause of the disease is a mutation in the SIX1 gene." "" + "obsolete myotonia, potassium-aggravated" "" "true" + "autoimmune disease, susceptibility to, 2" "" + "autoimmune disease, susceptibility to, 3" "" + "microcephaly 6, primary, autosomal recessive" "Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CENPJ gene." "" + "autosomal dominant nonsyndromic hearing loss 43" "An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 2p12." "" + "platelet-type bleeding disorder 10" "Any inherited bleeding disorder, platelet-type in which the cause of the disease is a mutation in the CD36 gene." "" + "Braddock syndrome" "Braddock syndrome is a rare malformation syndrome with multiple congenital abnormalities, described in 2 siblings, that is characterized by VACTERL -like association in combination with pulmonary hypertension, laryngeal webs, blue sclerae, abnormal ears, persistent growth deficiency and normal intellect." "" + "bradyopsia" "Bradyopsia is characterised by prolonged electroretinal response suppression leading to difficulties adjusting to changes in luminance, normal to subnormal acuity and photophobia." "" + "autosomal dominant limb-girdle muscular dystrophy type 1F" "Autosomal dominant limb-girdle muscular dystrophy type 1F (LGMD1F) is a subtype of autosomal dominant limb-girdle muscular dystrophy,with a variable age of onset, characterized by progressive, proximal weakness and wasting of the shoulder and pelvic musculature (with the pelvic girdle, and especially the ileopsoas muscle, being more affected) and frequent association of calf hypertrophy, dysphagia, arachnodactyly with or without finger contractures and/or distal and axial muscle involvement. Additional features include an abnormal gait, exercise intolerance, myalgia, fatigue and respiratory insufficiency. Cardiac conduction defects are typically not observed." "" + "muscular dystrophy, limb-girdle, autosomal dominant" "Autosomal dominant form of limb-girdle muscular dystrophy." "" + "craniosynostosis-intracranial calcifications syndrome" "Craniosynostosis-intracranial calcification is a form of syndromic craniosynostosis, characterized by pancraniosynostosis, head circumference below the mid-parental head circumference, mild facial dysmorphism (prominent supraorbital ridges, mild proptosis and maxillary hypoplasia) and calcification of the basal ganglia. The disease is associated with a favorable neurological outcome, normal intelligence and is inherited in an autosomal recessive manner." "" + "systemic lupus erythematosus, susceptibility to, 4" "" + "intellectual disability, autosomal recessive 3" "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the CC2D1A gene." "" + "speech-sound disorder" "" + "myocardial infarction, susceptibility to" "" + "inflammatory bowel disease 9" "An inflammatory bowel disease that has material basis in variation in the chromosome region 3p26." "" + "MUTYH-related attenuated familial adenomatous polyposis" "An autosomal recessive hereditary neoplastic syndrome caused by mutations in the MUTYH gene on chromosome 1p34.1. It is characterized by the presence of multiple colorectal polyps that may progress to carcinoma. Development of gastric and small intestinal polyps may also occur." "" + "attenuated familial adenomatous polyposis" "Attenuated familial adenomatous polyposis (AFAP) is a mild form of familial adenomatous polyposis characterized by the presence of fewer than 100 adenomatous colonic polyps, a more proximal colonic location, a delayed age of colorectal cancer (CRC) onset and a more limited expression of the extracolonic features." "" + "classic familial adenomatous polyposis" "Familial adenomatous polyposis (FAP) is characterized by the development of hundreds to thousands of adenomas in the rectum and colon during the second decade of life." "" + "hirschsprung disease, susceptibility to, 8" "" + "Reis-Bucklers corneal dystrophy" "Reis-Bücklers corneal dystrophy (RBCD), also known as granular corneal dystrophy type III, is a rare form of superficial corneal dystrophy characterized by bilateral symmetrical reticular opacities in the superficial central cornea, with progressive visual impairment." "" + "corneal dystrophy, lattice type 3A" "Lattice corneal dystrophy type 3A is rare condition that affects the cornea. It is characterized primarily by protein clumps in the clear, outer covering of the eye which cloud the cornea and impair vision. Affected people also experience recurrent corneal erosion (separation of certain layers of the cornea), which is associated with severe pain and sensitivity to bright light. Lattice corneal dystrophy type 3A is caused by changes (mutations) in the TGFBI gene and is inherited in an autosomal dominant manner. The condition is usually treated surgically." "" + "myopia 5, autosomal dominant" "" + "congenital corneal opacities, cornea guttata, and corectopia" "" + "alopecia universalis congenita, 10Y gonadal dysgenesis, and laryngomalacia" "" + "orofaciodigital syndrome VII" "" + "major depressive disorder 1" "" + "periodontitis, aggressive, 2" "" + "ALG1-CDG" "A severe form of congenital disorders of N-linked glycosylation characterized by severe developmental and psychomotor delay, muscular hypotonia, intractable early-onset seizures, and microcephaly. Additional features include altered blood coagulation with a high probability of hemorrhages or thromboses, nephrotic syndrome, ascites, hepatomegaly, cardiomyopathy, ocular manifestations (strabismus, nystagmus), and immunodeficiency. The disease is caused by loss-of-function mutations in the gene ALG1 (16p13.3)." "" + "aneurysm, intracranial berry, 2" "" + "schizophrenia 12" "A schizophrenia that has material basis in a mutation on chromosome 1p36.2." "" + "Larsen-like osseous dysplasia-short stature syndrome" "Larsen-like osseous dysplasia-short stature syndrome is a rare primary bone dysplasia characterized by a Larsen-like phenotype including multiple, congenital, large joint dislocations, craniofacial abnormalities (i.e. macrocephaly, flat occiput, prominent forehead, hypertelorism, low-set, malformed ears, flat nose, cleft palate), spinal abnormalities, cylindrical fingers, and talipes equinovarus, as well as growth retardation (resulting in short stature) and delayed bone age. Other reported clinical manifestations include severe developmental delay, hypotonia, clinodactyly, congenital heart defect and renal dysplasia." "" + "Leber congenital amaurosis 9" "Any Leber congenital amaurosis in which the cause of the disease is a mutation in the NMNAT1 gene." "" + "legionnaire disease, susceptibility to" "" + "myocardial infarction, susceptibility to, 2" "" + "polydactyly, postaxial, type A4" "" + "autosomal recessive nonsyndromic hearing loss 35" "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the ESRRB gene." "" + "dilated cardiomyopathy 1O" "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the ABCC9 gene." "" + "ulnar/fibula ray defect-brachydactyly syndrome" "Ulnar/fibula ray defect - brachydactyly syndrome is a very rare malformation syndrome characterized by ulnar hypoplasia associated with hypoplastic to absent fourth and/or fifth digits, fibular hypoplasia, short stature and facial dysmorphism." "" + "choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome" "Choanal atresia - deafness - cardiac defects - dysmorphism syndrome, also known as Burn-McKeown syndrome, is an extremely rare multiple congenital anomaly syndrome characterized by bilateral choanal atresia associated with a characteristic cranio-facial dysmorphism (hypertelorism with narrow palpebral fissures, coloboma of inferior eyelid with presence of eyelashes medial to the defect, prominent nasal bridge, thin lips, prominent ears), that can be accompanied by hearing loss, unilateral cleft lip, preauricular tags, cardiac septal defects and anomalies of the kidneys. The features of this syndrome overlaps considerably with those of the CHARGE syndrome." "" + "obsolete Stevens-Johnson syndrome" "" "true" + "atrial fibrillation, familial, 1" "" + "asthma-related traits, susceptibility to, 2" "Any inherited susceptibility to asthma in which the cause of the disease is a mutation in the NPSR1 gene." "" + "brachial palsy, familial congenital" "" + "keratoconus 3" "" + "obsolete autosomal dominant Charcot-Marie-Tooth disease type 2G" "" "true" + "congenital generalized lipodystrophy type 1" "Any congenital generalized lipodystrophy in which the cause of the disease is a mutation in the AGPAT2 gene." "" + "familial partial lipodystrophy, Kobberling type" "Familial partial lipodystrophy, Kobberling type, is a very rare form of familial partial lipodystrophy (FPLD) of unknown etiology characterized by lipoatrophy that is confined to the limbs and a normal or increased fat distribution of the face, neck, and trunk. Arterial hypertension and diabetes have also been associated. Inheritance is thought to be autosomal dominant." "" + "ribose-5-P isomerase deficiency" "Ribose-5-P isomerase deficiency is an extremely rare, hereditary, disorder of pentose phosphate metabolism characterized by progressive leukoencephalopathy and a highly increased ribitol and D-arabitol levels in the brain and body fluids. Clinical presentation includes psychomotor delay, epilepsy, and childhood-onset slow neurological regression with ataxia, spasticity, optic atrophy and sensorimotor neuropathy." "" + "mandibuloacral dysplasia with type B lipodystrophy" "" + "oligodontia-cancer predisposition syndrome" "" + "midface hypoplasia, obesity, developmental delay, and neonatal hypotonia" "" + "amyotrophic lateral sclerosis type 8" "Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the VAPB gene." "" + "Joubert syndrome 3" "Any Joubert syndrome in which the cause of the disease is a mutation in the AHI1 gene." "" + "Joubert syndrome with ocular defect" "Joubert syndrome with ocular defect is, along with pure JS, the most frequent subtype of Joubert syndrome and related disorders (JSRD) characterized by the neurological features of JS associated with retinal dystrophy." "" + "asperger syndrome, susceptibility to, 2" "" + "neuronopathy, distal hereditary motor, type 2B" "Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the HSPB1 gene." "" + "15q11q13 microduplication syndrome" "The 15q11-q13 microduplication (dup15q11-q13) syndrome is characterized by neurobehavioral disorders, hypotonia, cognitive deficit, language delay and seizures. Prevalence is unknown." "" + "partial duplication of the long arm of chromosome 15" "Chromosome 15q duplication is a chromosome abnormality that occurs when an extra (duplicate) copy of the genetic material located on the long arm (q) of chromosome 15 is present in each cell. The severity of the condition and the associated signs and symptoms vary based on the size and location of the duplication and which genes are involved. Common features shared by many people with this duplication include developmental delay; intellectual disability; hypotonia (low muscle tone); seizures ; high and/or cleft palate (roof of the mouth); scoliosis ; slow growth; communication difficulties; behavioral problems; and distinctive facial features. Most cases are not inherited, although affected people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person." "" + "asperger syndrome, susceptibility to, 1" "" + "autosomal dominant nonsyndromic hearing loss 28" "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the GRHL2 gene." "" + "aromatic L-amino acid decarboxylase deficiency" "Aromatic L-amino acid decarboxylase deficiency is a very rare, severe, genetic neurometabolic disorder associated with clinical manifestations related to underproduction of serotonin and dopamine, mainly hypotonia, hypokinesia, ptosis oculogyric crises, and signs of autonomic dysfunction." "" + "primary ciliary dyskinesia 3" "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAH5 gene." "" + "autosomal dominant nonsyndromic hearing loss 31" "An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 6p21.3." "" + "primary ciliary dyskinesia 4" "A primary ciliary dyskinesia that is characterized by partial absence of the inner dynein arms with variable occurrence of situs inversus and has material basis in variation in the chromosome region 15q13.1-q15.1." "" + "primary ciliary dyskinesia 5" "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the HYDIN gene." "" + "ichthyosis prematurity syndrome" "Ichthyosis prematurity syndrome is a rare, syndromic congenital ichthyosis characterized by premature birth (at gestational weeks 30-32, in general) in addition to thick, caseous and desquamating epidermis, neonatal respiratory asphyxia, and persistent eosinophilia. After the perinatal period, a spontaneous improvement in the health of affected patients is observed and skin features (vernix caseosa-like scale) evolve into a mild presentation of flat follicular hyperkeratosis with atopy." "" + "autosomal dominant nonsyndromic hearing loss 47" "An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 9p22-p21." "" + "autosomal recessive nonsyndromic hearing loss 32" "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has material basis in variation in the chromosome region 1p22.1-p13.3." "" + "hereditary sensory and autonomic neuropathy type 5" "Hereditary sensory and autonomic neuropathy, type 5 (HSAN5) is characterized by loss of pain perception and impaired temperature sensitivity, in the absence of any other major neurological anomalies." "" + "prostate cancer, hereditary, 3" "" + "prostate cancer, hereditary, 4" "" + "intellectual disability-brachydactyly-Pierre Robin syndrome" "Intellectual disability-brachydactyly-Pierre Robin syndrome is a rare developmental defect during embryogenesis characterized by mild to moderate intellectual disability and phsychomotor delay, Robin sequence (incl. severe micrognathia and soft palate cleft) and distinct dysmorphic facial features (e.g. synophris, short palpebral fissures, hypertelorism, small, low-set, and posteriorly angulated ears, bulbous nose, long/flat philtrum, and bow-shaped upper lip). Skeletal anomalies, such as brachydactyly, clinodactyly, small hands and feet, and oral manifestations (e.g. bifid, short tongue, oligodontia) are also associated. Additional features reported include microcephaly, capillary hemangiomas on face and scalp, ventricular septal defect, corneal clouding, nystagmus and profound sensorineural deafness." "" + "Charcot-Marie-Tooth disease axonal type 2L" "Autosomal dominant Charcot-Marie-Tooth disease type 2L (CMT2L) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. In the single family reported to date, CMT2L onset is between 15 and 33 years. Patients present with a symmetric distal weakness of legs and occasionally of the hands, absent or reduced tendon reflexes, distal legs sensory loss and frequently a pes cavus. Progression is slow." "" + "spondylocostal dysostosis 2, autosomal recessive" "" + "spinocerebellar ataxia type 20" "Spinocerebellar ataxia type 20 (SCA20) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by cerebellar dysarthria as the initial typical manifestation." "" + "AICA-ribosiduria" "AICA-ribosiduria is an extremely severe inborn error of purine biosynthesis characterized clinically in the single reported case to date by profound intellectual deficit, epilepsy, dysmorphic features of the knees, elbows, and shoulders and congenital blindness." "" + "major depressive disorder 2" "" + "glaucoma 1, open angle, J" "" + "glaucoma 1, open angle, K" "" + "spinocerebellar ataxia type 25" "Spinocerebellar ataxia type 25 (SCA25) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by cerebellar ataxia and prominent sensory neuropathy." "" + "acquired partial lipodystrophy" "Acquired partial lipodystrophy, or Barraquer-Simons syndrome, is characterised by the association of lipoatrophy of the upper part of the body and lipohypertrophy of the thighs." "" + "partial lipodystrophy" "Loss and redistribution of subcutaneous and/or visceral adipose tissue from specific regions of the body." "" + "acquired lipodystrophy" "An instance of lipodystrophy (disease) that is acquired during the lifetime of the individual." "" + "granulomatosis with polyangiitis" "A small-vessel necrotizing vasculitis characterised by the association of inflammation of the vessel wall and peri- and extravascular granulomatosis." "" + "Anti-neutrophil cytoplasmic antibody-associated vasculitis" "Group of systemic vasculitis with a strong association with anca. The disorders are characterized by necrotizing inflammation of small and medium size vessels, with little or no immune-complex deposits in vessel walls." "" + "microcephaly 5, primary, autosomal recessive" "Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the ASPM gene." "" + "neuropathy, hereditary sensory and autonomic, adult-onset, with anosmia" "" + "spondyloepimetaphyseal dysplasia, matrilin-3 type" "Spondyloepimetaphyseal dysplasia, matrilin-3 type is characterized by disproportionate early-onset dwarfism, bowing of the lower limbs, short, wide and stocky long bones with severe epiphyseal and metaphyseal changes, lumbar lordosis, hypoplastic iliac bones, flat ovoid vertebral bodies and normal hands." "" + "hypertension, essential, susceptibility to, 4" "" + "growth delay due to insulin-like growth factor type 1 deficiency" "Growth delay due to insulin-like growth factor I deficiency is characterised by the association of intrauterine and postnatal growth retardation with sensorineural deafness and intellectual deficit." "" + "hypertrophic cardiomyopathy 8" "Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the MYL3 gene." "" + "hypertrophic cardiomyopathy 10" "Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the MYL2 gene." "" + "epilepsy, idiopathic generalized, susceptibility to, 3" "" + "Ehlers-Danlos syndrome, Beasley-Cohen type" "" + "scoliosis, isolated, susceptibility to, 3" "" + "spinocerebellar ataxia type 8" "Spinocerebellar ataxia type 8 (SCA8) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I) characterized by cerebellar ataxia and cognitive dysfunction in almost three quarters of patients and pyramidal and sensory signs in approximately a third of patients." "" + "COG7-CDG" "COG7-CDG is a congenital disorder of glycosylation characterised by dysmorphism, skeletal dysplasia, hypotonia, hepatosplenomegaly, jaundice, cardiac insufficiency, recurrent infections and epilepsy. To date, it has been described in two infants, both of whom died within the first three months of life. The syndrome is caused by a mutation in the gene encoding COG-7 (chromosome 16), a subunit of the oligomeric Golgi complex." "" + "defect in conserved oligomeric Golgi complex" "" + "asperger syndrome, susceptibility to, 3" "" + "pyruvate dehydrogenase phosphatase deficiency" "Pyruvate dehydrogenase phosphatase deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD) characterized by lactic acidemia in the neonatal period." "" + "otosclerosis 5" "" + "moyamoya disease 3" "" + "congenital disorder of glycosylation type 1E" "The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type Ie is characterised by psychomotor delay, seizures, hypotonia, facial dysmorphism and microcephaly. Ocular anomalies are also very common." "" + "sudden infant death-dysgenesis of the testes syndrome" "Sudden infant death with dysgenesis of the testes (SIDDT) syndrome is a lethal condition in infants with dysgenesis of testes." "" + "hypomyelinating leukodystrophy 2" "Any leukodystrophy in which the cause of the disease is a mutation in the GJC2 gene." "" + "familial avascular necrosis of femoral head" "Avascular necrosis of femoral head (ANFH) is a severely disabling disease characterised by progressive groin pain, a limping gait, leg length discrepancy, collapse of the subchondral bone, limitation of hip function and eventual degeneration of the hip joint requiring total hip arthroplasty." "" + "primary avascular necrosis" "" + "autosomal recessive limb-girdle muscular dystrophy type 2J" "Autosomal recessive limb-girdle muscular dystrophy type 2J (LGMD2J) is a form of limb-girdle muscular dystrophy that usually has a childhood onset (but can range from the first to third decade of life) of severe progressive proximal weakness, eventually involving the distal muscles. Some patients may remain ambulatory but most are wheelchair dependant 20 years after onset." "" + "dextro-looped transposition of the great arteries 1" "Any dextro-looped transposition of the great arteries in which the cause of the disease is a mutation in the MED13L gene." "" + "dextro-looped transposition of the great arteries" "Congenitally uncorrected transposition of the great arteries (congenitally uncorrected TGA), also referred to as complete transposition, is a congenital cardiac malformation characterized by atrioventricular concordance and ventriculoarterial (VA) discordance." "" + "leukoencephalopathy, arthritis, colitis, and hypogammaglobulinema" "" + "myofibrillar myopathy 2" "Any autosomal dominant distal myopathy in which the cause of the disease is a mutation in the CRYAB gene." "" + "alpha-crystallinopathy" "" + "metaphyseal undermodeling, spondylar dysplasia, and overgrowth" "" + "colorectal cancer, susceptibility to, 1" "Any colorectal cancer in which the cause of the disease is a mutation in the GALNT12 gene." "" + "lateral semicircular canal malformation, familial, with external and middle ear abnormalities" "" + "myoclonic epilepsy, juvenile, susceptibility to, 3" "" + "restless legs syndrome, susceptibility to, 2" "" + "carnitine palmitoyl transferase II deficiency, neonatal form" "The neonatal form of carnitine palmitoyltransferase II (CPT II) deficiency, an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the lethal form of the disease which presents with multisystem failure." "" + "Carney complex - trismus - pseudocamptodactyly syndrome" "Carney complex-trismus-pseudocamptodactyly syndrome is a rare genetic heart-hand syndrome characterized by typical manifestations of the Carney complex (spotty pigmentation of the skin, familial cardiac and cutaneous myxomas and endocrinopathy) associated with trismus and distal arthrogryposis (presenting as involuntary contraction of distal and proximal interphalangeal joints of hands evident only on dorsiflexion of wrist and similar lower-limb contractures producing foot deformities)." "" + "muscular dystrophy-dystroglycanopathy type B6" "A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscular dystrophy with mental retardation and structural brain abnormalities that has material basis in homozygous or compound heterozygous mutation in the LARGE gene on chromosome 22q12." "" + "macular dystrophy, retinal, 3" "" + "obsolete pulmonary function" "" "true" + "orofacial cleft 6, susceptibility to" "Any orofacial cleft in which the cause of the disease is a mutation in the IRF6 gene." "" + "orofacial cleft 5" "Any orofacial cleft in which the cause of the disease is a mutation in the MSX1 gene." "" + "cleft lip and alveolus" "Cleft lip and alveolus is a fissure type embryopathy that involves the upper lip, nasal base and alveolar ridge in variable degrees." "" + "hereditary cryohydrocytosis with reduced stomatin" "" + "Waardenburg syndrome type 2D" "Any Waardenburg syndrome type 2 in which the cause of the disease is a mutation in the SNAI2 gene." "" + "macular degeneration, age-related, 3" "Any age-related macular degeneration in which the cause of the disease is a mutation in the FBLN5 gene." "" + "familial hemophagocytic lymphohistiocytosis 3" "Any genetic hemophagocytic lymphohistiocytosis in which the cause of the disease is a mutation in the UNC13D gene." "" + "coronary heart disease, susceptibility to, 5" "Any coronary artery disease in which the cause of the disease is a mutation in the KALRN gene." "" + "obsolete drug metabolism, poor, CYP2D6-related" "" "true" + "attention deficit-hyperactivity disorder, susceptibility to, 1" "" + "attention deficit-hyperactivity disorder, susceptibility to, 2" "" + "attention deficit-hyperactivity disorder, susceptibility to, 3" "" + "attention deficit-hyperactivity disorder, susceptibility to, 4" "" + "Alzheimer disease 9" "" + "myopia 6" "Any myopia in which the cause of the disease is a mutation in the SCO2 gene." "" + "choanal atresia" "Choanal atresia (CA) is a congenital anomaly of the posterior nasal airway characterized by the obstruction of one (unilateral) or both (bilateral) choanal aperture(s), with clinical manifestations ranging from acute respiratory distress to chronic nasal obstruction." "" + "myasthenic syndrome, congenital, 1B, fast-channel" "A congenital myasthenic syndrome characterized by defects in postsynaptic neuromuscular junctions with early-onset progressive muscle weakness that has material basis in mutation in the CHRNA1 gene on chromosome 2q." "" + "congenital myasthenic syndrome 4C" "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset muscle weakness, and low amplitude of the miniature endplate potential and current that has material basis in homozygous or compound heterozygous mutation in the CHRNE gene on chromosome 17p13." "" + "keratoconus 2" "" + "lung cancer susceptibility 1" "" + "spondylometaphyseal dysplasia-cone-rod dystrophy syndrome" "Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome is characterised by the association of spondylometaphyseal dysplasia (marked by platyspondyly, shortening of the tubular bones and progressive metaphyseal irregularity and cupping), with postnatal growth retardation and progressive visual impairment due to cone-rod dystrophy. So far, it has been described in eight individuals. Transmission appears to be autosomal recessive." "" + "susceptibility to respiratory infections associated with CD8alpha chain mutation" "Susceptibility to respiratory infections associated with CD8 alpha chain mutation is a rare primary immunodeficiency due to a defect in adaptive immunity characterized by the absence of CD8+ T cells with normal immunoglobulin and specific antibody titres in blood and susceptibility to recurrent respiratory bacterial and viral infections. Symptom severity range from fatal respiratory insufficiency to mild or asymptomatic phenotypes." "" + "patterned macular dystrophy 2" "Any patterned macular dystrophy in which the cause of the disease is a mutation in the CTNNA1 gene." "" + "severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive" "A severe combined immunodeficiency characterized by being T cell-negative, B cell-positive and natural killer cell-positive and that has material basis in homozygous or compound heterozygous mutation in the IL7R gene on chromosome 5p13 or the CD45 gene on chromosome 1q31." "" + "Meacham syndrome" "Meacham syndrome is a multiple malformation syndrome characterized by congenital diaphragmatic abnormalities, genital defects and cardiac malformations." "" + "BNAR syndrome" "BNAR syndrome is a very rare multiple congenital anomaly syndrome characterized by a bifid nose (with bulbous nasal tip but not associated with hypertelorism) with or without the presence of anal defects (i.e. anteriorly placed anus, rectal stenosis or atresia) and renal dysplasia (unilateral or bilateral renal agenesis) and without intellectual disability. BNAR syndrome is phenotypically related to Fraser syndrome and oculotrichoanal syndrome." "" + "autosomal dominant sensory ataxia 1" "Any hereditary ataxia in which the cause of the disease is a mutation in the RNF170 gene." "" + "sensory ataxia" "Any ataxia in which the causes of the disease is a perturbation of the sensory system, leading to its dysfunction." "" + "atrial fibrillation, familial, 2" "" + "dyslexia, susceptibility to, 8" "" + "premature ovarian failure 3" "" + "autosomal recessive nonsyndromic hearing loss 36" "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the ESPN gene." "" + "marfanoid habitus with situs inversus" "" + "mitochondrial trifunctional protein deficiency" "Mitochondrial trifunctional protein (TFP) deficiency (TFPD) is a disorder of fatty acid oxidation characterized by a wide clinical spectrum ranging from severe neonatal manifestations including cardiomyopathy, hypoglycemia, metabolic acidosis, skeletal myopathy and neuropathy, liver disease and death to a mild phenotype with peripheral polyneuropathy, episodic rhabdomyolysis and pigmentary retinopathy.." "" + "long chain 3-hydroxyacyl-CoA dehydrogenase deficiency" "Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) is a mitochondrial disorder of long chain fatty acid oxidation characterized in most patients by onset in infancy/ early childhood with hypoketotic hypoglycemia, metabolic acidosis, liver disease, hypotonia and frequently cardiac involvement with arrhythmias and/or cardiomyopathy." "" + "peripheral cone dystrophy" "" + "cataract 28" "A cataract that has material basis in variation in the region 6p12-q12." "" + "Emanuel syndrome" "Emanuel syndrome is a constitutional genomic disorder due to the presence of a supernumerary derivative 22 chromosome and characterized by severe intellectual disability, characteristic facial dysmorphism (micrognathia, hooded eyelids, upslanting downslanting parebral fissures, deep set eyes, low hanging columnella and long philtrum), congenital heart defects and kidney abnormalities." "" + "posterior column ataxia-retinitis pigmentosa syndrome" "Posterior column ataxia - retinitis pigmentosa is characterized by the association of progressive sensory ataxia and retinitis pigmentosa." "" + "FLVCR1 retinopathy with or without ataxia" "A disorder characterized by retinopathy with ataxia in most patients, caused by biallelic variants in the FLVCR1 gene." "" + "intellectual disability with optic atrophy, facial dysmorphism, microcephaly, and short stature" "" + "narcolepsy 3" "" + "arrhythmogenic right ventricular dysplasia 9" "Any familial isolated arrhythmogenic right ventricular dysplasia in which the cause of the disease is a mutation in the PKP2 gene." "" + "hereditary spastic paraplegia 27" "A hereditary spastic paraplegia that has material basis in variation in the chromosome region 10q22.1-q24.1." "" + "skeletal dysplasia, rhizomelic, with retinitis pigmentosa" "" + "melanoma, cutaneous malignant, susceptibility to, 3" "" + "Pierson syndrome" "Pierson syndrome is characterised by the association of congenital nephrotic syndrome and ocular anomalies with microcoria." "" + "LAMB2-related infantile-onset nephrotic syndrome" "LAMB2-related infantile-onset nephrotic syndrome is a rare primary glomerular disease due to homozygous mutations in LAMB2 gene, characterized by prenatal or early-onset progressive steroid-resistant nephrotic syndrome leading to renal failure, and variable ocular defects including myopia, fundus abnormalities, strabismus or nystagmus, without severe visual impairment or blindness. Patients present in early infancy with massive proteinuria, edema, hypertension, and hyperlipidemia. Psychomotor development is normal." "" + "spondylometaphyseal dysplasia, A4 type" "" + "Fanconi anemia complementation group I" "Fanconi anemia caused by mutations in the FANCI gene, encoding Fanconi anemia group I protein." "" + "Fanconi anemia complementation group J" "Fanconi anemia caused by mutations in the BRIP1 gene, encoding Fanconi anemia group J protein." "" + "neuronal ceroid lipofuscinosis 9" "Neuronal ceroid lipofuscinosis 9 (CLN9-NCL) is a rare condition that affects the nervous system. Signs and symptoms of the condition generally develop in early childhood (average age 4 years) and may include loss of muscle coordination (ataxia), seizures that do not respond to medications, muscle twitches (myoclonus), visual impairment, and developmental regression (the loss of previously acquired skills). The underlying genetic cause of CLN9-NCLis unknown but it appears to be inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms." "" + "obsolete Amish infantile epilepsy syndrome" "" "true" + "nephrotic syndrome - deafness - pretibial epidermolysis bullosa syndrome" "" + "hepatoencephalopathy due to combined oxidative phosphorylation defect type 1" "Hepatoencephalopathy due to combined oxidative phosphorylation deficiency type 1 is a rare, inherited mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by intrauterine growth retardation, metabolic decompensation with recurrent vomiting, persistent severe lactic acidosis, encephalopathy, seizures, failure to thrive, severe global developmental delay, poor eye contact, severe muscular hypotonia or axial hypotonia with limb hypertonia, hepatomegaly and/or liver dysfunction and/or liver failure, leading to fatal outcome in severe cases. Neuroimaging abnormalities may include corpus callosum thinning, leukodystrophy, delayed myelination and basal ganglia involvement." "" + "permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome" "Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome is characterized by neonatal diabetes mellitus associated with cerebellar and/or pancreatic agenesis." "" + "neonatal diabetes mellitus" "Neonatal diabetes mellitus presents as hyperglycemia, failure to thrive and, in some cases, dehydration and ketoacidosis which may be severe with coma, in a child within the first months of life." "" + "autosomal dominant limb-girdle muscular dystrophy type 1G" "Autosomal dominant limb-girdle muscular dystrophy (LGMD1G) is a mild subtype of autosomal dominant limb-girdle muscular dystrophy characterized by a typically adult onset of mild, progressive, proximal weakness of pelvic and shoulder girdle muscles and progressive, permanent finger and toes flexion limitation without flexion contractures. Normal to highly elevated creatine kinase serum levels are observed." "" + "aneurysm, intracranial berry, 3" "" + "arthrogryposis-severe scoliosis syndrome" "Distal arthrogryposis type 4 is an inherited developmental defect syndrome characterized by multiple congenital contractures of limbs, without primary neurologic and/or muscle disease that affects limb function, and a mild to severe scoliosis. Intelligence is normal." "" + "autosomal dominant auditory neuropathy 1" "Any auditory neuropathy in which the cause of the disease is a mutation in the DIAPH3 gene." "" + "PCWH syndrome" "Waardenburg-Shah syndrome, neurologic variant, also referred to as Peripheral demyelinating neuropathy, Central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease (PCWH), is characterized by the association of the features of WSS (sensorineural hearing loss, pigmentary abnormalities and Hirschsprung disease) with neurological features, namely, neonatal hypotonia, intellectual deficit (of variable severity), nystagmus, progressive spasticity, ataxia and epilepsy." "" + "posterior polymorphous corneal dystrophy 2" "Any posterior polymorphous corneal dystrophy in which the cause of the disease is a mutation in the COL8A2 gene." "" + "posterior polymorphous corneal dystrophy 3" "Any posterior polymorphous corneal dystrophy in which the cause of the disease is a mutation in the ZEB1 gene." "" + "obsolete tibia, bowing of, with pseudarthrosis and pectus excavatum" "" "true" + "malaria, mild, susceptibility to" "" + "malaria, susceptibility to" "" + "familial hyperthyroidism due to mutations in TSH receptor" "Familial non-autoimmune autosomal dominant hyperthyroidism (FNAH) is a rare hyperthyroidism characterized by mild to severe hyperthyroidism, presence of goiter, absence of features of autoimmunity, frequent relapses while on treatment and a positive family history." "" + "familial pseudohyperkalemia" "An inherited, mild, non-hemolytic subtype of hereditary stomatocytosis that is associated with a temperature-dependent anomaly in red cell membrane permeability to potassium that leads to high in vitro potassium levels in samples stored below 37°C. FP is not associated with additional hematological abnormalities, although affected individuals may show some mild abnormalities like macrocytosis." "" + "autosomal dominant striatal neurodegeneration type 1" "Autosomal dominant striatal degeneration is a neurologic disorder characterized by variable movement abnormalities due to dysfunction in the striatal part of the basal ganglia." "" + "Czech dysplasia, metatarsal type" "Czech dysplasia, metatarsal type is a form of skeletal dysplasia characterised by severe arthropathy beginning in childhood and hypoplasia/dysplasia of the third, fourth and/or fifth toes." "" + "umbilicus, familial flat" "" + "congenital reticular ichthyosiform erythroderma" "" + "branchiogenic deafness syndrome" "Branchiogenic deafness syndrome is a multiple congenital anomalies syndrome, described in one family to date, characterized by branchial cysts or fistulae; ear malformations; congenital hearing loss (conductive, sensorineural, and mixed); internal auditory canal hypoplasia; strabismus; trismus; abnormal fifth fingers; vitiliginous lesions, short stature; and mild learning disability. Renal and uretral abnormalities are absent." "" + "migraine with aura, susceptibility to, 7" "" + "MPDU1-CDG" "The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type If is characterised by psychomotor delay, seizures, failure to thrive, and cutaneous and ocular anomalies." "" + "Loeys-Dietz syndrome 1" "A rare autosomal dominant syndrome caused by mutations in the TGFBR1 gene. It is characterized by vascular abnormalities (aortic and arterial aneurysms, aortic dissection, and tortuosity of the arteries), hypertelorism, bifid uvula, and early fusion of the skull bones." "" + "Loeys-Dietz syndrome" "Loeys-Dietz syndrome is a rare genetic connective tissue disorder characterized by a broad spectrum of craniofacial, vascular and skeletal manifestations with four genetic subtypes described forming a clinical continuum." "" + "hereditary spastic paraplegia 26" "A rare, complex type of hereditary spastic paraplegia characterized by the onset in childhood/adolescence (ages 2-19) of progressive spastic paraplegia associated mainly with mild to moderate cognitive impairment and developmental delay, cerebellar ataxia, dysarthria, and peripheral neuropathy. Less commonly reported manifestations include skeletal abnormalities (i.e. pes cavus, scoliosis), dyskinesia, dystonia, cataracts, cerebellar signs (i.e. saccadic dysfunction, nystagmus, dysmetria), bladder disturbances, and behavioral problems. SPG26 is caused by mutations in the B4GALNT1 gene (12q13.3), encoding Beta-1, 4 N-acetylgalactosaminyltransferase 1." "" + "glucocorticoid deficiency 3" "" + "qualitative or quantitative defects of myotilin" "" + "foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome" "" + "Bruck syndrome 2" "Any Bruck syndrome in which the cause of the disease is a mutation in the PLOD2 gene." "" + "dandy-walker malformation with occipital cephalocele, autosomal dominant" "" + "spondyloepiphyseal dysplasia tarda, autosomal recessive, Leroy-Spranger type" "" + "Griscelli syndrome type 3" "A Griscelli syndrome characterized by isolated silvery gray sheen of the hair and hypopigmentation of the skin that has material basis in mutation in the MLPH or MYO5A genes." "" + "alpha-N-acetylgalactosaminidase deficiency type 1" "Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 1 is a very rare and severe type of NAGA deficiency characterized by infantile neuroaxonal dystrophy." "" + "alpha-N-acetylgalactosaminidase deficiency" "Alpha-N-acetylgalactosaminidase (NAGA) deficiency is a very rare lysosomal storage disease that is clinically and pathologically heterogeneous and is characterized by deficient NAGA activity." "" + "alpha-N-acetylgalactosaminidase deficiency type 2" "Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 2 is a very rare mild adult type of NAGA deficiency with the features of angiokeratoma corporis diffusum and mild sensory neuropathy." "" + "hypotrichosis, progressive patterned scalp, with wiry hair, onycholysis, and cleft lip/palate" "" + "febrile seizures, familial, 6" "" + "Senior-Loken syndrome 5" "Any Senior-Loken syndrome in which the cause of the disease is a mutation in the IQCB1 gene." "" + "febrile seizures, familial, 5" "" + "myopia 7" "" + "myopia 8" "" + "myopia 9" "" + "myopia 10" "" + "Charcot-Marie-Tooth disease type 2A2" "Autosomal dominant Charcot-Marie-Tooth disease type 2A2 (CMT2A2) is a subtype of Autosomal dominant Charcot-Marie-Tooth disease type 2 characterized by the childhood onset of distal weakness and areflexia (with earlier and more severe involvement of the lower extremities), reduced sensory modalities (primarily pain and temperature sensation), foot deformities, postural tremor, scoliosis and contractures. Optic atrophy, vocal cord palsy with dysphonia, sensorineural hearing loss, spinal cord abnormalities and hydrocephalus have also been reported." "" + "stuttering, familial persistent, 2" "" + "Li-Fraumeni syndrome 2" "Any Li-Fraumeni syndrome in which the cause of the disease is a mutation in the CHEK2 gene." "" + "obsolete LFS3" "" "true" + "autosomal recessive spinocerebellar ataxia 7" "Spinocerebellar ataxia autosomal recessive 7, also called SCAR7, is a slowly progressive hereditary form of spinocerebellar ataxia. Symptoms of SCAR7 can include difficulty walking and writing, speech difficulties (dysarthria), limb ataxia, and a decrease in the size of a region of the brain called the cerebellum (cerebellar atrophy). Of the few reported cases in the literature, some patients also had eye involvement that included nystagmus (in voluntary eye movements)and saccadic pursuit eye movements. Out of 5 affected siblings examined in a large Dutch family, 2 became wheelchair-dependent late in life. The severity of the symptoms varies from mild to severe. SCAR7 is caused by mutations in the TPP1 gene and is inherited in an autosomal recessive manner." "" + "keratoconus 4" "" + "nemaline myopathy 6" "Any nemaline myopathy in which the cause of the disease is a mutation in the KBTBD13 gene." "" + "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2" "Any progressive external ophthalmoplegia with mitochondrial DNA deletions in which the cause of the disease is a mutation in the SLC25A4 gene." "" + "nemaline myopathy 1" "Any nemaline myopathy in which the cause of the disease is a mutation in the TPM3 gene." "" + "nemaline myopathy 4" "Any nemaline myopathy in which the cause of the disease is a mutation in the TPM2 gene." "" + "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3" "Any progressive external ophthalmoplegia with mitochondrial DNA deletions in which the cause of the disease is a mutation in the TWNK gene." "" + "syncope, familial vasovagal" "" + "B-cell immunodeficiency, distal limb anomalies, and urogenital malformations" "" + "prostate cancer, hereditary, 5" "" + "developmental and epileptic encephalopathy, 3" "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SLC25A22 gene." "" + "spinocerebellar ataxia type 26" "Spinocerebellar ataxia type 26 (SCA26) is a very rare subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by late-onset and slowly progressive cerebellar signs (gait ataxia) and eye movement abnormalities." "" + "spinocerebellar ataxia type 27" "Spinocerebellar ataxia type 27 (SCA27) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by early-onset tremor, dyskinesia, and slowly progressive cerebellar ataxia." "" + "autosomal recessive limb-girdle muscular dystrophy type 2K" "Autosomal recessive limb-girdle muscular dystrophy type 2K (LGMD2K) is a form of limb-girdle muscular dystrophy characterized by the onset of slowly progressive proximal muscle weakness during childhood (with fatigue and difficulty running and climbing stairs) and developmental delay. Mild intellectual deficit and microcephaly, without any obvious structural brain abnormality, are found in all patients. Mild pseudohypertrophy and joint contractures of the ankles have also been reported." "" + "colorectal cancer, hereditary nonpolyposis, type 2" "Any hereditary nonpolyposis colon cancer in which the cause of the disease is a mutation in the MLH1 gene." "" + "Charcot-Marie-Tooth disease type 4H" "Charcot-Marie-Tooth disease, type 4H (CMT4H) is a demyelinating CMT peripheral sensorimotor polyneuropathy" "" + "MEDNIK syndrome" "MEDNIK syndrome, previously known as Erythrokeratodermia Variabilis type 3 (EKV3), is characterized by intellectual deficit, enteropathy, sensorineural hearing loss, peripheral neuropathy, lamellar and erythrodermic ichthyosis, and keratodermia (MEDNIK stands for Mental retardation, Enteropathy, Deafness, peripheral Neuropathy, Ichtyosis, Keratodermia)." "" + "rhabdoid tumor predisposition syndrome 1" "Any familial rhabdoid tumor in which the cause of the disease is a mutation in the SMARCB1 gene." "" + "familial rhabdoid tumor" "A neoplastic syndrome most often caused by mutations in the hSNF5/INI1 tumor suppressor gene. It is characterized by the development of an atypical teratoid/rhabdoid tumor in infancy and early childhood. This highly aggressive tumor develops in the central nervous system as an isolated lesion or in combination with extrarenal or renal rhabdoid tumor. Patients may also develop other central nervous system malignancies including medulloblastoma, supratentorial primitive neuroectodermal tumor, and choroid plexus carcinoma." "" + "multiple epiphyseal dysplasia, with severe proximal femoral dysplasia" "Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia is a rare primary bone dysplasia characterized by severe, early-onset dysplasia of the proximal femurs, with almost complete absence of the secondary ossification centers and abnormal development of the femoral necks (short and broad with irregular metaphyses). It is associated with gait abnormality, mild short stature, arthralgia, joint stiffness with limited mobility of the hips and irregular acetabula, and hip and knee pain. Coxa vara and mild spinal changes are also associated." "" + "multiple epiphyseal dysplasia, with miniepiphyses" "Multiple epiphyseal dysplasia, with miniepiphyses is a rare primary bone dysplasia disorder characterized by strikingly small secondary ossification centers (mini-epiphyses) in all or only some joints, resulting in severe bone dysplasia of the proximal femoral heads. Short stature, increased lumbar lordosis, genua vara and generalized joint laxity have also been reported." "" + "chromosome 18 pericentric inversion" "" + "hereditary spastic paraplegia 28" "Autosomal recessive spastic paraplegia type 28 is a pure form of hereditary spastic paraplegia characterized by a childhood or adolescent onset of slowly progressive, pure crural muscle spastic paraparesis which manifests with mild lower limb weakness, gait difficulties, extensor plantar responses, and hyperreflexia of lower extremities. Less common manifestations reported include cerebellar oculomotor disturbance with saccadic eye pursuit, pes cavus and scoliosis. Some patients also present pin and vibration sensory loss in distal legs." "" + "autosomal recessive pure spastic paraplegia" "Autosomal recessive form of pure hereditary spastic paraplegia." "" + "Cerebrorenodigital syndrome" "" + "epidermolysis bullosa simplex with circinate migratory erythema" "Epidermolysis bullosa simplex with circinate migratory erythema (EBS-migr) is a basal subtype of epidermolysis bullosa simplex (EBS) characterized by belt-like areas of erythema with multiple vesicles and small blisters at the advancing edge of erythema." "" + "colloid cysts of third ventricle" "Colloid cysts of the third ventricle are non-cancerous brain lesions. The third ventricle is a cavity in the brain that is filled with cerebral spinal fluid (CSF). Colloid cysts can cause blockages resulting in a build up of CSF in the brain (hydrocephalus) and increased pressure. Some colloid cysts are asymptomatic while others cause neurological symptoms, such as headaches, swelling of the optic nerve (papilledema), and drop attacks. When symptoms are present onset tends to be in the third to sixth decade of life. While uncommon, symptoms of colloid cyst can become life threatening." "" + "cataract 35" "A cataract that has material basis in variation in the region 19q13." "" + "autism, susceptibility to, 6" "" + "fibrosis of extraocular muscles, congenital, 3c" "" + "autoimmune disease, susceptibility to, 4" "" + "preeclampsia/eclampsia 2" "" + "preeclampsia/eclampsia 3" "" + "preeclampsia/eclampsia 4" "Any preeclampsia in which the cause of the disease is a mutation in the STOX1 gene." "" + "holoprosencephaly 8" "A holoprosencephaly that has material basis in variation in the chromosome region 14q13." "" + "chromosome 3q29 microdeletion syndrome" "3q29 microdeletion syndrome is a recurrent subtelomeric deletion syndrome with variable clinical manifestations including intellectual deficit and dysmorphic features." "" + "partial deletion of the long arm of chromosome 3" "" + "Tukel syndrome" "" + "mesoaxial synostotic syndactyly with phalangeal reduction" "Mesoaxial synostotic syndactyly (MSSD) with phalangeal reduction is a novel and distinct form of non-syndromic syndactyly including complete syndactyly of the 3rd and 4th fingers with synostoses of the corresponding metacarpals and associated single phalanges, syndactyly of the 2nd and 3rd toes and 5th finger clinodactyly." "" + "intellectual disability, keratoconus, febrile seizures, and sinoatrial block" "" + "autosomal recessive nonsyndromic hearing loss 48" "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the CIB2 gene." "" + "acromesomelic dysplasia, Demirhan type" "" + "fetal valproate syndrome" "Fetal valproate syndrome (FVS), is an anticonvulsant drug-related embryofetopathy that can occur when a fetus is exposed to valproic acid (VPA), characterized by distinct facial dysmorphism, congenital anomalies and developmental delay (especially in language and communication)." "" + "fetal anticonvulsant syndrome" "" + "generalized epilepsy-paroxysmal dyskinesia syndrome" "Generalized epilepsy-paroxysmal dyskinesia syndrome is characterised by the association of paroxysmal dyskinesia and generalised epilepsy (usually absence or generalised tonic-clonic seizures) in the same individual or family. The prevalence is unknown. Analysis in one of the reported families led to the identification of a causative mutation in the KCNMA1 gene (chromosome 10q22), encoding the alpha subunit of the BK channel. Transmission is autosomal dominant." "" + "myofibrillar myopathy 4" "Late-onset distal myopathy, Markesbery-Griggs type is a rare, genetic, non-dystrophic myofibrillar myopathy disorder characterized by late-adult onset of distal and/or proximal limb muscle weakness with initial involvement of posterior lower leg muscles, medial gastrocnemius and soleus. Patients present with ankle weakness followed by weakness of finger and wrist extensors and later on of proximal muscles. Ambulation is usually preserved. Late-onset associated cardiomyopathy and/or neuropathy has been reported in a minority of cases." "" + "qualitative or quantitative defects of protein ZASP" "" + "supranuclear palsy, progressive, 2" "" + "congenital muscular dystrophy merosin-positive" "The congenital muscle dystrophies are currently classified according to the genetic defects. Historically, congenital muscular dystrophies were classified in two broad groups: Classic CMD (which included the Merosin-deficient CMD and the Merosin-positive CMD) and the CMD with central nervous system (CNS) abnormalities (Fukuyama CMD, muscle-eye-brain disease and Walker-Warburg syndrome). Therefore, merosin-positive congenital muscle dystrophy (CMD) is now considered an old term which refers to a group of diseases without structural brain abnormalities that are caused by a variety of gene mutations, resulting in protein defects that do not affect the merosin protein. Itusually has a milder phenotype than the merosin-negative CMD dystrophy group and includes, among others: Classic CMD without distinguishing features Rigid spine syndrome associated with mutations in the selenoprotein N1 gene (SEPN1) CMD with hyperextensible distal joints (Ullrich type) CMD with intellectual disability or sensory abnormalities. The pattern of muscle weakness and wasting in the patients within this group of congenital muscular dystrophy conditions is worse in the proximal upper limb-girdle and trunk muscles. Lower limb muscles may be mildly involved. Muscle biopsy shows a dystrophic pattern with normal staining for dystrophin, laminin alpha-2 of merosin and the sarcoglycans." "" + "Goldberg-Shprintzen megacolon syndrome" "Goldberg-Shprintzen megacolon syndrome is a multiple malformation syndrome characterized by Hirschprung megacolon with microcephaly, hypertelorism, submucous cleft palate, short stature and learning disability." "" + "obsolete sarcoidosis, early-onset" "" "true" + "Al-Gazali syndrome" "An autosomal recessive syndrome characterized by joint contractures, skeletal abnormalities, anterior segment anomalies of the eye and early lethality." "" + "cleft palate, midfacial hypoplasia, triangular facies, and sensorineural hearing loss" "" + "nephropathy, progressive, with deafness" "" + "left ventricular noncompaction 2" "" + "myopathy, autophagic vacuolar, infantile-onset" "" + "Stickler syndrome, type I, nonsyndromic ocular" "" + "iridogoniodysgenesis and skeletal anomalies" "" + "myofibrillar myopathy 5" "Muscle filaminopathy is a rare myofibrillar myopathy characterized by slowly progressive, proximal skeletal muscle weakness, which is initially more prominent in lower extremities and involves upper extremities with disease progression. Patients present with difficulty climbing stairs, a waddling gait, marked winging of scapula, lower back pain, paresis of limb girdle musculature, hypo-/areflexia and/or mild facial muscle weakness in rare cases. Respiratory muscle weakness is common and cardiac anomalies (conduction blocks, tachycardia, diastolic dysfunction, left ventricular hypertrophy) have been reported in some cases." "" + "qualitative or quantitative defects of filamin C" "" + "CEDNIK syndrome" "CEDNIK syndrome is a neurocutaneaous syndrome characterized by severe developmental abnormalities of the nervous system and aberrant differentiation of the epidermis." "" + "immunoglobulin A deficiency 2" "Any selective IgA deficiency disease in which the cause of the disease is a mutation in the TNFRSF13B gene." "" + "hepatitis C virus, susceptibility to" "" + "autosomal recessive nonsyndromic hearing loss 23" "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the PCDH15 gene." "" + "obsolete drug metabolism, poor, Cyp2C19-related" "" "true" + "complement component 5 deficiency" "A rare genetic disorder with an autosomal recessive pattern of inheritance. It is caused by the ineffective or decreased biosynthesis of the fifth complement component, C5. C5 deficiency may also be acquired acutely post-infection. If C5 is adequately synthesized, its rapid depletion may result in a functional deficiency. Clinical signs of the inherited deficiency present within the second decade of life and are consistent with the signs of recurrent systemic infection. Deficiency of serum C5 and its major cleavage product, C5b, a component of the membrane attack complex, increases susceptibility to Neisserial infections." "" + "immunodeficiency due to a late component of complement deficiency" "A genetic deficiency of any membrane attack complex (MAC, also known as terminal component complex (TCC)) component of the complement system (C5, C6, C7, C8, C9). Deficiencies of the terminal complement pathway results in a predisposition to infections, such as invasive meningococcal disease or disseminated gonococcal infection." "" + "lipomyelomeningocele" "Lipomyelomeningocele is a rare neural tube closure defect characterized by a subcutaneous lipoma that extends through a defect in the lumbodorsal fascia, vertebral neural arch, and dura. This painless lesion can occur anywhere along the spinal canal but usually is found in the sacral or lumbar region. If left untreated it can cause tethered cord syndrome." "" + "SPOAN syndrome" "A rare, complex type of hereditary spastic paraplegia characterized by early-onset progressive spastic paraplegia presenting in infancy, associated with optic atrophy, fixation nystagmus, polyneuropathy occurring in late childhood/early adolescence leading to severe motor disability and progressive joint contractures and scoliosis. SPOAN syndrome is caused by mutations in the KLC2 gene (11q13.1), encoding kinesin light chain 2." "" + "spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder" "" + "omphalocele, diaphragmatic hernia, and radial ray defects" "" + "nanophthalmos 2" "Any nanophthalmia in which the cause of the disease is a mutation in the MFRP gene." "" + "isolated microphthalmia 5" "Any isolated microphthalmia in which the cause of the disease is a mutation in the MFRP gene." "" + "prostate cancer, hereditary, 6" "" + "mitochondrial DNA depletion syndrome, myopathic form" "Myopathic mitochondrial DNA (mtDNA) depletion syndrome is one of the main forms of mtDNA depletion syndrome that displays a broad phenotypic spectrum but that is most often characterized by hypotonia, proximal muscle weakness, facial and bulbar weakness and failure to thrive." "" + "parietal foramina 3" "" + "migraine with or without aura, susceptibility to, 8" "" + "photoparoxysmal response 2" "" + "photoparoxysmal response 3" "" + "cardiomyopathy, familial restrictive, 2" "" + "familial scaphocephaly syndrome, McGillivray type" "Familial scaphocephaly syndrome, McGillivray type is a rare newly described craniosynostosis syndrome characterized by scaphocephaly, macrocephaly, severe maxillary retrusion, and mild intellectual disability." "" + "Joubert syndrome with renal defect" "Joubert syndrome with renal defect is a rare subtype of Joubert syndrome and related disorders (JSRD) characterized by the neurological features of JS associated with renal disease, in the absence of retinopathy." "" + "parietal foramina 2" "Any parietal foramina in which the cause of the disease is a mutation in the ALX4 gene." "" + "fibrosis of extraocular muscles, congenital, with synergistic divergence" "" + "spondylomegaepiphyseal dysplasia with upper limb mesomelia, punctate calcifications, and deafness" "" + "short QT syndrome type 1" "Any short QT syndrome in which the cause of the disease is a mutation in the KCNH2 gene." "" + "short QT syndrome type 2" "Any short QT syndrome in which the cause of the disease is a mutation in the KCNQ1 gene." "" + "short QT syndrome type 3" "Any short QT syndrome in which the cause of the disease is a mutation in the KCNJ2 gene." "" + "distal 10q deletion syndrome" "Distal monosomy 10q is a chromosomal anomaly involving terminal deletion of the long arm of chromosome 10 and is characterized by facial dysmorphism, pre- and postnatal growth retardation, cardiac and genital anomalies, and developmental delay." "" + "partial monosomy of the long arm of chromosome 10" "" + "Majeed syndrome" "Majeed syndrome is a rare genetic multisystemic disorder characterized by the triad of chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia, and variable transient inflammatory dermatosis." "" + "constitutional dyserythropoietic anemia" "" + "visceral neuropathy, familial, 3, autosomal dominant" "" + "leukemia, chronic lymphocytic, susceptibility to, 1" "" + "major affective disorder 3" "" + "migraine, familial hemiplegic, 3" "Any familial or sporadic hemiplegic migraine in which the cause of the disease is a mutation in the SCN1A gene." "" + "Alzheimer disease 10" "An Alzheimer's disease that is characterized by an associated with variation in the region 7q36." "" + "holoprosencephaly 5" "Holoprosencephaly associated with mutations in the ZIC2 gene." "" + "semilobar holoprosencephaly" "Semilobar holoprosencephaly is one of the classical forms of holoprosencephaly (HPE) in which the left and right frontal and parietal lobes are fused and the interhemispheric fissure is only present posteriorly." "" + "septopreoptic holoprosencephaly" "Septopreoptic holoprosencephaly (HPE) is a very rare subtype of lobar HPE characterized by midline fusion limited to the septal and/or preoptic regions of the telencephalon without a significant frontal neocortical fusion." "" + "lobar holoprosencephaly" "Lobar holoprosencephaly is the mildest classical form of holoprosencephaly (HPE) characterized by separation of the right and left cerebral hemispheres and lateral ventricules with some continuity across the frontal neocortex, especially rostrally and ventrally." "" + "alobar holoprosencephaly" "Alobar holoprosencephaly is the most severe classical form of holoprosencephaly (HPE) characterized by a single brain ventricle and no interhemispheric fissure." "" + "midline interhemispheric variant of holoprosencephaly" "Midline interhemispheric variant of holoprosencephaly (MIH) or syntelencephaly is a form of holoprosencephaly (HPE) characterized by non-separation of the posterior frontal and parietal lobes, normally-formed callosal genu and splenium, absence of the callosal body, normally-separated hypothalamus and lentiform nucleus, and frequent heterotopic gray matter." "" + "lethal acantholytic epidermolysis bullosa" "Lethal acantholytic epidermolysis bullosa is a suprabasal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized oozing erosions, usually in the absence of blisters." "" + "Frias syndrome" "A rare partial deletion of the long arm of chromosome 14 characterized by ocular anomalies (anopthalmia/microphthalmia, ptosis, hypertelorism, exophthalmos), pituitary anomalies (pituitary hypoplasia/aplasia with growth hormone deficiency and growth retardation) and hand/foot anomalies (polydactyly, short digits, pes cavus). Other clinical features may include muscular hypotonia, psychomotor development delay/intellectual disability, dysmorphic signs (facial asymmetry, microretrognathia, high-arched palate, ear anomalies), congenital genitourinary malformations, hearing impairment. Smaller 14q22 deletions may have variable expression." "" + "partial deletion of the long arm of chromosome 14" "Chromosome 14q deletion is a chromosome abnormality that occurs when there is a missing (deleted) copy of genetic material on the long arm (q) of chromosome 14." "" + "Nguyen syndrome" "" + "autosomal recessive nonsyndromic hearing loss 42" "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the ILDR1 gene." "" + "autosomal recessive nonsyndromic hearing loss 46" "An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 18p11.32-p11.31." "" + "trichilemmal cyst" "" + "short stature and Facioauriculothoracic malformations" "" + "talo-patello-scaphoid osteolysis" "Talo-patello-scaphoid osteolysis is an extremely rare form of primary osteolysis, described in two sisters to date, characterized by bilateral osteolysis of the tali, scaphoids, and patellae (accompanied by periarticular swelling and pain) and short fourth metacarpals (brachydactyly type E), in the absence of renal disease. Autosomal recessive inheritance has been suggested." "" + "migraine with aura, susceptibility to, 9" "" + "short stature-delayed bone age due to thyroid hormone metabolism deficiency" "Short stature-delayed bone age due to thyroid hormone metabolism deficiency is a rare, genetic congenital hypothyroidism disorder characterized by mild global developmental delay in childhood, short stature, delayed bone age, and abnormal thyroid and selenium levels in serum (high total and free T4 concentrations, low T3, high reverse T3, normal to high TSH, decreased selenium). Intellectual disability, primary infertility, hypotonia, muscle weakness, and impaired hearing have also been reported." "" + "autosomal recessive nonsyndromic hearing loss 53" "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the COL11A2 gene." "" + "hereditary spastic paraplegia 29" "Autosomal dominant spastic paraplegia type 29 (SPG29) is a complex form of hereditary spastic paraplegia characterized by a spastic paraplegia presenting in adolescence, associated with the additional manifestations of sensorial hearing impairment due to auditory neuropathy and persistent vomiting due to a hiatal or paraesophageal hernia." "" + "obesity due to pro-opiomelanocortin deficiency" "Pro-opiomelanocortin (POMC) deficiency is a form of monogenic obesity resulting in severe early-onset obesity, adrenal insufficiency, red hair and pale skin." "" + "cataract 22 multiple types" "Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CRYBB3 gene." "" + "glaucoma 1, open angle, I" "" + "epilepsy, idiopathic generalized, susceptibility to, 4" "" + "celiac disease, susceptibility to, 4" "Any celiac disease in which the cause of the disease is a mutation in the MYO9B gene." "" + "celiac disease, susceptibility to, 2" "" + "celiac disease, susceptibility to, 3" "Any celiac disease in which the cause of the disease is a mutation in the CTLA4 gene." "" + "7q11.23 microduplication syndrome" "7q11.23 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 7 characterized by a highly variable phenotype that typically manifests with mild-moderate intellectual delay (patients could be in the normal range), speech disorders (particularly of expressive language), and distinctive craniofacial features (brachycephaly, broad forehead, straight eyebows, broad nasal tip, short piltrum, thin upper lip and facial asymmetry). hypotonia, developmental coordination disordes, behavioural problems (such as anxiety, ADHD and oppositional disorders) and various congenital anomalies, such as heart defects, diaphragmatic hernia, renal malformations and cryptorchidism, are frequently presented. Neurological abnormalities (visible on MRI) have been reported." "" + "partial duplication of the long arm of chromosome 7" "Chromosome 7q duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the long arm (q) of chromosome 7. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 7q duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Most cases are not inherited, but people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person." "" + "aortic aneurysm, familial abdominal, 2" "" + "Alzheimer disease 11" "An Alzheimer's disease that is characterized by an associated with variation in the region 9p22.1." "" + "acral peeling skin syndrome" "Acral peeling skin syndrome (PSS) is a form of PSS characterized by superficial peeling of the skin predominantly affecting the dorsa of the hands and feet." "" + "generalized epilepsy with febrile seizures plus, type 4" "" + "hamartoma, Precalcaneal congenital fibrolipomatous" "" + "maturity-onset diabetes of the young type 8" "Any maturity-onset diabetes of the young in which the cause of the disease is a mutation in the CEL gene." "" + "spondylocostal dysostosis 3, autosomal recessive" "Any autosomal recessive spondylocostal dysostosis in which the cause of the disease is a mutation in the LFNG gene." "" + "complement factor H deficiency" "" + "non-immunoglobulin-mediated membranoproliferative glomerulonephritis" "" + "zygodactyly type 1" "" + "vasculitis, lymphocytic, cutaneous small vessel" "" + "erythrocytosis, familial, 3" "Any familial polycythemia in which the cause of the disease is a mutation in the EGLN1 gene." "" + "autosomal dominant secondary polycythemia" "Autosomal dominant form of secondary polycythemia." "" + "platelet-type bleeding disorder 8" "P2Y12 defect is a rare hemorrhagic disorder characterized by mild to moderate bleeding diathesis with easy bruising, mucosal bleedings, and excessive post-operative hemorrhage due to defect of the platelet P2Y12 receptor resulting in selective impairment of platelet responses to adenosine diphosphate." "" + "autosomal recessive nonsyndromic hearing loss 28" "An autosomal recessive disorder caused by mutations in the TRIOBP gene, encoding TRIO and F-actin-binding protein. The condition is characterized by severe to profound sensorineural hearing loss." "" + "obsolete glomerulocystic kidney disease with hyperuricemia and isosthenuria" "" "true" + "glaucoma 1, open angle, G" "Any open-angle glaucoma in which the cause of the disease is a mutation in the WDR36 gene." "" + "leprosy, susceptibility to, 1" "" + "combined immunodeficiency due to partial RAG1 deficiency" "A form of combined T and B cell immunodeficiency (CID) characterized by severe and persistent cytomegalovirus (CMV) infection and autoimmune cytopenia." "" + "congenital nongoitrous hypothryoidism 3" "A congenital hypothyroidism characterized by autosomal dominant inheritance of resistance to thyrotropin that has material basis in variation in the chromosome region 15q25.3-q26.1." "" + "peripheral resistance to thyroid hormones" "Peripheral resistance to thyroid hormones may be a cause of permanent congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth." "" + "systemic lupus erythematosus, susceptibility to, 5" "" + "dilated cardiomyopathy 1P" "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the PLN gene." "" + "retinitis pigmentosa 32" "A retinitis pigmentosa that has material basis in variation in the chromosome region 1p21.3-p13.3." "" + "dilated cardiomyopathy 1Q" "A dilated cardiomyopathy that has material basis in variation in the chromosome region 7q22.3-q31.1." "" + "gallbladder disease 2" "" + "gallbladder disease 3" "" + "retinitis pigmentosa 31" "Any retinitis pigmentosa in which the cause of the disease is a mutation in the TOPORS gene." "" + "aminoacylase 1 deficiency" "Aminoacylase 1 deficiency (ACY1D) is an inborn error of metabolism marked by a characteristic pattern of urinary N-acetyl amino acid excretion and neurologic symptoms." "" + "systemic lupus erythematosus, susceptibility to, 6" "" + "autosomal recessive nonsyndromic hearing loss 51" "An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 11p13-p12." "" + "Noonan syndrome 3" "Any Noonan syndrome in which the cause of the disease is a mutation in the KRAS gene." "" + "obsolete hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features" "" "true" + "ectodermal dysplasia, sensorineural hearing loss, and distinctive facial features" "" + "brachyphalangy, polydactyly, and tibial aplasia/hypoplasia" "" + "autosomal recessive nonsyndromic hearing loss 47" "An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 2p25.1-p24.3." "" + "autosomal recessive nonsyndromic hearing loss 55" "An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 4q12-q13.2." "" + "asperger syndrome, susceptibility to, 4" "" + "fibromatosis, gingival, 3" "" + "asthma-related traits, susceptibility to, 3" "" + "autosomal dominant nonsyndromic hearing loss 53" "An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 14q11.2-q12." "" + "hyperinsulinism due to INSR deficiency" "Hyperinsulinemic hypoglycemia due to INSR deficiency is a very rare autosomal dominant form of familial hyperinsulinism characterized clinically in the single reported family by postprandial hypoglycemia, fasting hyperinsulinemia, and an elevated serum insulin-to-C peptide ratio, and a variable age of onset." "" + "familial hyperinsulinism" "An instance of hyperinsulinism (disease) that is caused by an inherited modification of the individual's genome." "" + "hyperinsulinemic hypoglycemia, familial, 4" "Any hyperinsulinemic hypoglycemia in which the cause of the disease is a mutation in the HADH gene." "" + "primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency" "The primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency is characterised by a specific natural-killer (NK) cell deficiency and susceptibility to viral diseases. It has been described in four children from a large inbred kindred. Three out of the four children reported developed a viral illness. The mode of transmission is most likely autosomal recessive. The causative gene has been localised to within a 12-Mb region on chromosome 8p11.23-q11.21." "" + "panic disorder 3" "" + "metaphyseal chondrodysplasia with cone-shaped epiphyses, normal hair, and normal hands" "" + "trichoscyphodysplasia" "" + "osteosclerosis-ichthyosis-premature ovarian failure syndrome" "This syndrome is characterised by sclerosing bone dysplasia, ichthyosis vulgaris and premature ovarian failure. The bone disorder affects all metaphyseal-diaphyseal regions of the long bones, the skull, and the metacarpals." "" + "myopia 11, autosomal dominant" "" + "myopia 12, autosomal dominant" "" + "arthrogryposis multiplex with deafness, inguinal hernias, and early death" "" + "neuronal ceroid lipofuscinosis 8 northern epilepsy variant" "Progressive epilepsy-intellectual deficit, Finnish type (also known as Northern epilepsy) is a subtype of neuronal ceroid lipofuscinosis (NCL) characterized by seizures, progressive decline of intellectual capacities and variable loss of vision." "" + "2-methylbutyryl-CoA dehydrogenase deficiency" "A rare organic aciduria characterized by impaired isoleucine degradation with increased plasma or whole blood C5 acylcarnitine levels (typically observed in newborn screening) and increased urinary excretion of N-methylbutyrylglycine. The condition is usually clinically asymptomatic, although patients with muscular hypotonia, developmental delay, and seizures (among others) have been reported." "" + "congenital brain dysgenesis due to glutamine synthetase deficiency" "" + "disorder of glutamine metabolism" "" + "multiple synostoses syndrome 2" "Any multiple synostoses syndrome in which the cause of the disease is a mutation in the GDF5 gene." "" + "cataract 18" "Any cataract in which the cause of the disease is a mutation in the FYCO1 gene." "" + "early-onset zonular cataract" "" + "exercise-induced hyperinsulinism" "Exercise-induced hyperinsulinism (EIHI) is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI) characterized by episodes of hypoglycemia induced by exercise due to an inappropriate lactate and pyruvate sensitivity in pancreatic beta-cells." "" + "brachydactyly, coloboma, and anterior segment dysgenesis" "" + "retinal cone dystrophy 3A" "" + "complex cortical dysplasia with other brain malformations 7" "Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the TUBB2B gene." "" + "bilateral frontal polymicrogyria" "Bilateral frontal polymicrogyria is one of the rarest subtypes of polymicrogyria. It is a symmetric and bilateral form (in both brain hemispheres) that only involves the frontal lobes without including the area located behind the Sylvius fissure or the area located behind the Rolando sulcus. Some researchers classify the condition into two different forms: bilateral frontal polymicrogyriaand the bilateral frontoparietal. Signs and symptoms included delayed motor and language milestones; spastic (stiffness) hemiparesis (weakness in one side of the body) or quadriparesis (weakness in all four limbs of the body); and mild to moderate intellectual disability. Seizures mayalsobe present. The frontoparietal form is caused by changes (mutations) in the GPR56 gene but the cause for the frontal form of polymicrogyira is still not known. Treatment is based on the signs and symptoms present in each person." "" + "cortical dysplasia-focal epilepsy syndrome" "An autosomal recessive condition caused by mutation(s) in the CNTNAP2 gene, encoding contactin-associated protein-like 2. It is characterized by normal development until the onset of intractable focal seizures at age 1-9. After the onset of seizures, language regression, intellectual disability, hyperactivity, and impulsive behaviors begin to occur. The majority of children eventually fulfill the criteria for autism spectrum disorder." "" + "Pitt-Hopkins-like syndrome" "Pitt-Hopkins-like syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by severe intellectual disability, lack of speech with normal, or mildly delayed, motor development, episodic breathing abnormalities, early-onset seizures and facial dysmorphism which only includes a wide mouth. Abnormal sleep-wake cycles, autistic behavior and stereotypic movements are commonly associated." "" + "congenital stromal corneal dystrophy" "Congenital stromal corneal dystrophy (CSCD) is an extremely rare form of stromal corneal dystrophy characterized by opaque flaky or feathery clouding of the corneal stroma, and moderate to severe visual loss." "" + "opioid dependence, susceptibility to, 1" "" + "systemic lupus erythematosus, susceptibility to, 7" "" + "systemic lupus erythematosus, susceptibility to, 8" "" + "polyposis syndrome, hereditary mixed, 2" "Any hereditary mixed polyposis syndrome in which the cause of the disease is a mutation in the BMPR1A gene." "" + "hyperparathyroidism 3" "" + "pyridoxal phosphate-responsive seizures" "Pyridoxal phosphate-responsive seizures is a very rare neonatal epileptic encephalopathy disorder characterized clinically by onset of severe seizures within hours of birth that are not responsive to anticonvulsants, but are responsive to treatment with pyridoxal phosphate." "" + "microphthalmia, isolated, with coloboma 3" "Any microphthalmia, isolated, with coloboma in which the cause of the disease is a mutation in the VSX2 gene." "" + "isolated microphthalmia 2" "Any isolated microphthalmia in which the cause of the disease is a mutation in the VSX2 gene." "" + "Finnish upper limb-onset distal myopathy" "Finnish upper limb-onset distal myopathy is a rare, genetic distal myopathy characterized by slowly progressive distal to proximal limb muscle weakness and atrophy, with characteristic early involvement of thenar and hypothenar muscles. Patients present with clumsiness of the hands and stumbling in the fourth to fifth decade of life, and later develop steppage gait and contractures of the hands. Progressive fatty degeneration affects intrinsic muscles of the hands, gluteus medium and both anterior and posterior compartment muscles of the distal lower extremities, with later involvement of forearm muscles, triceps, infraspinatus and the proximal lower limb muscles. Asymmetry of muscle involvement is common." "" + "giant axonal neuropathy 2" "Any giant axonal neuropathy in which the cause of the disease is a mutation in the DCAF8 gene." "" + "complement component 7 deficiency" "Any classic complement early component deficiency in which the cause of the disease is a mutation in the C7 gene." "" + "syndromic microphthalmia type 5" "Syndromic microphthalmia, type 5 is characterized by the association of a range of ocular anomalies (anophthalmia, microphthalmia and retinal abnormalities) with variable developmental delay and central nervous system malformations." "" + "neuronal ceroid lipofuscinosis 10" "A rare condition that affects the nervous system. Signs and symptoms of the condition can develop any time from birth to adulthood and may include progressive dementia, seizures, lack of muscle coordination, and vision loss. CLN10-NCL is caused by changes (mutations) in the CTSD gene and is inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms." "" + "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4" "Any progressive external ophthalmoplegia with mitochondrial DNA deletions in which the cause of the disease is a mutation in the POLG2 gene." "" + "Devriendt syndrome" "" + "heart-hand syndrome, Slovenian type" "A rare autosomal dominant form of heart-hand syndrome, first described in members of a Slovenian family, that is characterized by adult onset, progressive cardiac conduction disease, tachyarrhythmias that can lead to sudden death, dilated cardiomyopathy and brachydactyly, with the hands less severely affected than the feet. Muscle weakness and/or myopathic electromyographic findings have been observed in some cases." "" + "autosomal recessive nonsyndromic hearing loss 62" "An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 12p13.2-p11.23." "" + "age related macular degeneration 7" "Any age-related macular degeneration in which the cause of the disease is a mutation in the HTRA1 gene." "" + "autosomal recessive nonsyndromic hearing loss 49" "An autosomal recessive disorder caused by mutations in the MARVELD2 gene, encoding MARVEL domain-containing protein 2. The condition is characterized by profound prelingual deafness." "" + "autosomal recessive nonsyndromic hearing loss 44" "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the ADCY1 gene." "" + "type 1 diabetes mellitus 19" "A type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 2q24.3." "" + "MORM syndrome" "MORM syndrome is characterised by the association of intellectual deficit, truncal obesity, retinal dystrophy and micropenis. It has been described in 14 individuals from a consanguineous family. It is transmitted in an autosomal recessive manner. The causative locus has been mapped to chromosome region 9q34." "" + "obsolete heat-shock RNA 1" "" "true" + "corneal dystrophy, fuchs endothelial, 2" "" + "immunodeficiency 25" "Any severe combined immunodeficiency in which the cause of the disease is a mutation in the CD247 gene." "" + "T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta" "" + "Loeys-Dietz syndrome 2" "A rare autosomal dominant inherited disorder of connective tissue caused by mutations in either the TGFBR1 or TGFBR2 gene. Like Loeys-Dietz syndrome type I the disease is characterized by enlargement of the aorta and other arteries, and arterial tortuosity, but skeletal signs are typically less severe or absent in type 2. Skin abnormalities, such as velvety skin are often present in type 2." "" + "kyphoscoliosis 1" "" + "Aicardi-Goutieres syndrome 2" "Any Aicardi-Goutieres syndrome in which the cause of the disease is a mutation in the RNASEH2B gene." "" + "cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2" "Any dysequilibrium syndrome in which the cause of the disease is a mutation in the WDR81 gene." "" + "diaphragmatic hernia 3" "Any congenital diaphragmatic hernia in which the cause of the disease is a mutation in the ZFPM2 gene." "" + "Joubert syndrome 5" "Any Joubert syndrome in which the cause of the disease is a mutation in the CEP290 gene." "" + "CEP290 ciliopathy" "A ciliopathy caused by biallelic variants in the CEP290 gene." "" + "Senior-Loken syndrome 6" "Any Senior-Loken syndrome in which the cause of the disease is a mutation in the CEP290 gene." "" + "arrhythmogenic right ventricular dysplasia 10" "Any arrhythmogenic right ventricular cardiomyopathy in which the cause of the disease is a mutation in the DSG2 gene." "" + "3-methylglutaconic aciduria type 5" "A syndrome characterized by severe early onset (before the age of three years) dilated cardiomyopathy (DCM) with conduction defects (long QT syndrome), non-progressive cerebellar ataxia, testicular dysgenesis, and 3-methylglutaconic aciduria." "" + "neonatal diabetes mellitus with congenital hypothyroidism" "A rare genetic disease characterized by intrauterine growth retardation, permanent neonatal diabetes mellitus, and congenital hypothyroidism. Additional manifestations include congenital glaucoma, hepatic disease (hepatitis, fibrosis, and cirrhosis), polycystic kidneys, exocrine pancreatic dysfunction, sensorineural hearing impairment, developmental delay, and mild facial dysmorphism (such as flat nasal bridge, epicanthal folds, long philtrum, and low-set ears), among others" "" + "cataract 21 multiple types" "Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the MAF gene." "" + "pontocerebellar hypoplasia type 5" "Pontocerebellar hypoplasia type 5 (PCH5) is a very rare severe form of PCH with prenatal onset and characterized by fetal onset of clonus or seizures-like activity persisting in infancy and microencephaly leading to early postnatal death. There is significant overlap both in phenotype and in genotype between pontocerebellar hypoplasia types 4 and 5." "" + "Alagille syndrome due to a NOTCH2 point mutation" "" + "migraine with or without aura, susceptibility to, 10" "" + "migraine with or without aura, susceptibility to, 11" "" + "autosomal recessive nonsyndromic hearing loss 66" "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the DCDC2 gene." "" + "aneurysm, intracranial berry, 4" "" + "neurodegeneration with brain iron accumulation 2B" "" + "PLA2G6-associated neurodegeneration" "Any neurodegeneration with brain iron accumulation in which the cause of the disease is a mutation in the PLA2G6 gene." "" + "autosomal recessive nonsyndromic hearing loss 59" "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the PJVK gene." "" + "seborrhea-like dermatitis with psoriasiform elements" "" + "synpolydactyly type 3" "" + "hereditary spastic paraplegia 33" "Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the ZFYVE27 gene." "" + "spinocerebellar ataxia type 23" "Spinocerebellar ataxia type 23 (SCA23) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by gait ataxia, dysarthria, slowed saccades, ocular dysmetria, Babinski sign and hyperreflexia." "" + "spinocerebellar ataxia type 28" "Spinocerebellar ataxia type 28 (SCA28) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by juvenile onset, slowly progressive cerebellar ataxia due to Purkinje cell degeneration." "" + "esophagitis, eosinophilic, 1" "" + "autosomal recessive nonsyndromic hearing loss 65" "An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 20q13.2-q13.3." "" + "hereditary spastic paraplegia 31" "A rare type of hereditary spastic paraplegia usually characterized by a pure phenotype of proximal weakness of the lower extremities with spastic gait and brisk reflexes, with a bimodal age of onset of either childhood or adulthood (>30 years). In some cases, it can present as a complex phenotype with additional associated manifestations including peripheral neuropathy, bulbar palsy (with dysarthria and dysphagia), distal amyotrophy, and impaired distal vibration sense." "" + "alcohol sensitivity, acute" "Alcohol intolerance is characterized by immediate unpleasant reactions after drinking alcohol. The most common signs and symptoms of alcohol intolerance are stuffy nose and skin flushing. Alcohol intolerance is caused by a genetic condition in which the body is unable to break down alcohol efficiently, usually found in Asians. These individuals accumulate acetaldehyde, the primary metabolite of ethanol, because of a genetic polymorphism of aldehyde dehydrogenase (ALDH) that metabolizes acetaldehyde to nontoxic acetate. The only way to prevent alcohol intolerance reactions is to avoid alcohol. Alcohol intolerance isn't an allergy. However, in some cases, what seems to be alcohol intolerance may be a reaction to something in an alcoholic beverage, such as chemicals, grains or preservatives. Combining alcohol with certain medications also can cause reactions. In rare instances, an unpleasant reaction to alcohol can be a sign of a serious underlying health problem that requires diagnosis and treatment." "" + "Kleefstra syndrome" "A genetic disorder characterized by intellectual disability, childhood hypotonia, severe expressive speech delay and a distinctive facial appearance with a spectrum of additional clinical features." "" + "congenital primary aphakia" "Congenital primary aphakia (CPA) is characterised by an absence of the lens. The prevalence is unknown. CPA can be associated with variable secondary ocular defects (including aplasia/dysplasia of the anterior segment of the eye, microphthalmia, and in some cases absence of the iris, retinal dysplasia, or sclerocornea). CPA results from early developmental arrest, around the 4th-5th week of embryogenesis, which prevents the formation of any lens structure. Mutations in the FOXE3 gene were identified in three affected siblings born to consanguineous parents." "" + "pyloric stenosis, infantile hypertrophic, 2" "" + "hypertension, essential, susceptibility to, 5" "" + "hypertension, essential, susceptibility to, 6" "" + "autosomal recessive nonsyndromic hearing loss 67" "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the LHFPL5 gene." "" + "obsolete bulimia nervosa, susceptibility to, 2" "" "true" + "autosomal recessive frontotemporal pachygyria" "" + "retinitis pigmentosa 35" "Any retinitis pigmentosa in which the cause of the disease is a mutation in the SEMA4A gene." "" + "cone-rod dystrophy 10" "Any cone-rod dystrophy in which the cause of the disease is a mutation in the SEMA4A gene." "" + "hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency" "The combination of a propensity for venous thrombosis and seizures has been reported in two unrelated kindreds. Transmission is autosomal recessive. It results from a point mutation of PIGM, which reduces transcription of PIGM and blocks mannosylation of glycosylphosphatidylinositol (GPI), leading to partial but severe deficiency of GPI." "" + "Parkinson disease 13, autosomal dominant, susceptibility to" "Any young-onset Parkinson disease in which the cause of the disease is a mutation in the HTRA2 gene." "" + "cold-induced sweating syndrome 2" "Any cold-induced sweating syndrome in which the cause of the disease is a mutation in the CLCF1 gene." "" + "rhizomelic dysplasia, scoliosis, and retinitis pigmentosa" "" + "myopia 14" "" + "prostate cancer, hereditary, 7" "" + "Aicardi-Goutieres syndrome 3" "Any Aicardi-Goutieres syndrome in which the cause of the disease is a mutation in the RNASEH2C gene." "" + "Aicardi-Goutieres syndrome 4" "Any Aicardi-Goutieres syndrome in which the cause of the disease is a mutation in the RNASEH2A gene." "" + "right pulmonary artery, anomalous origin of, familial" "" + "autosomal dominant nocturnal frontal lobe epilepsy 4" "Any autosomal dominant nocturnal frontal lobe epilepsy in which the cause of the disease is a mutation in the CHRNA2 gene." "" + "cone dystrophy with supernormal rod response" "Cone dystrophy with supernormal rod response (CDSRR) is an inherited retinopathy, with an onset in the first or second decade of life, characterized by poor visual acuity (due to central scotoma), photophobia, severe dyschromatopsia, and occasionally, nystagmus. Night blindness usually develops later in the course of the disease, but it can also be apparent from childhood. A hallmark of CDSRR is the decreased and delayed dark-adapted response to dim flashes in electroretinographic recordings, which contrasts with the supernormal b-wave response at the highest levels of stimulation." "" + "hereditary spastic paraplegia 30" "Autosomal spastic paraplegia type 30 (SPG30) is a form of hereditary spastic paraplegia characterized by either a pure spastic paraplegia phenotype, usually presenting in the first or second decade of life, with spastic lower extremities, usteady spastic gait, hyperreflexia and extensor plantar responses, or as a complicated phenotype with the additional manifestations of distal wasting, saccadic ocular movements, mild cerebellar ataxia and mild, distal, axonal neuropathy." "" + "retinitis pigmentosa 33" "Any retinitis pigmentosa in which the cause of the disease is a mutation in the SNRNP200 gene." "" + "orofacial cleft 9" "" + "congenital malabsorptive diarrhea 4" "Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells is an exceedingly rare genetic gastroenterological disease characterized by severe malabsorptive diarrhea and a lack of intestinal enteroendocrine cells. Within the first weeks of life, patients present with vomiting, dehydration, and severe diarrhea unresponsive to various nutrients and formulas, and require home parenteral nutrition. Diabetes mellitus has also been reported." "" + "diabetes mellitus, transient neonatal, 2" "Any transient neonatal diabetes mellitus in which the cause of the disease is a mutation in the ABCC8 gene." "" + "mevalonic aciduria" "Mevalonic aciduria (MVA) is a rare, very severe form of mevalonate kinase deficiency (MKD) characterized by dysmorphic features, failure to thrive, psychomotor delay, ocular involvement, hypotonia, progressive ataxia, myopathy, and recurrent inflammatory episodes." "" + "peroxisomal disease" "A group of congenital disorders of lipid metabolism, caused by loss of the normal peroxisomes. Signs and symptoms include developmental delays, mental retardation, facial abnormalities, hepatomegaly, and hypotonia." "" + "West Nile virus, susceptibility to" "" + "cone-rod dystrophy 11" "Any cone-rod dystrophy in which the cause of the disease is a mutation in the RAX2 gene." "" + "prosopagnosia, hereditary" "An instance of prosopagnosia (disease) that is caused by an inherited modification of the individual's genome." "" + "autosomal recessive nonsyndromic hearing loss 68" "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the S1PR2 gene." "" + "preauricular tag, isolated, autosomal dominant, 1" "" + "alopecia-intellectual disability syndrome 2" "" + "hepatitis B virus, susceptibility to" "" + "cataract 23" "Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CRYBA4 gene." "" + "cone-rod synaptic disorder, congenital nonprogressive" "" + "macroglobulinemia, Waldenstrom, 2" "" + "Waldenstrom macroglobulinemia" "" + "restless legs syndrome, susceptibility to, 3" "" + "restless legs syndrome, susceptibility to, 4" "" + "testicular microlithiasis" "" + "spondyloepimetaphyseal dysplasia, Genevieve type" "Spondyloepimetaphyseal dysplasia, Geneviève type is a rare primary bone dysplasia characterized by severe developmental delay and skeletal dysplasia (including short stature, premature carpal ossification, platyspondyly, longitudinal metaphyseal striations, and small epiphyses), as well as moderate to severe intellectual disability and facial dysmorphism, including prominent forehead, mild synophrys, depressed nasal bridge, prominent bulbous nasal tip and full lips." "" + "Koolen de Vries syndrome" "Monosomy 17q21.31 (17q21.31 microdeletion syndrome) is a chromosomal anomaly characterized by developmental delay, childhood hypotonia, facial dysmorphism, and a friendly/amiable behavior." "" + "congenital stationary night blindness autosomal dominant 3" "A congenital stationary night blindness characterized by autosomal dominant inheritance that has material basis in heterozygous mutation in the GNAT1 gene on chromosome 3p21." "" + "congenital stationary night blindness autosomal dominant 1" "Any congenital stationary night blindness in which the cause of the disease is a mutation in the RHO gene." "" + "Buruli ulcer, susceptibility to" "" + "chilblain lupus 1" "Any chilblain lupus in which the cause of the disease is a mutation in the TREX1 gene." "" + "chilblain lupus" "A rare, chronic cutaneous lupus erythematosus disease characterized by red or violaceous, initially pruritic (evolving to painful) papules and plaques located on acral areas (especially dorsal aspects of fingers and toes, while the nose and ear involvement is uncommon), exacerbated by cold and damp conditions, with fissuring and ulceration occasionally observed. Coexistence of discoid lupus erythematosus lesions elsewhere on the body and occasional progression to systemic lupus erythematosus may be associated. Histological examination and direct immunofluorescence studies reveal nonspecific inflammatory lupus erythematosus changes while results of cryoglobulin and cold agglutinin studies are negative." "" + "familial chilblain lupus" "An instance of Chilblain lupus that is caused by an inherited modification of the individual's genome." "" + "mutagen sensitivity" "" + "normophosphatemic familial tumoral calcinosis" "" + "familial tumoral calcinosis" "Tumoral calcinosis is a phosphocalcic metabolism anomaly, particularly among younger age groups and characterized by the presence of calcified masses in the juxta-articular regions (hip, elbow, ankle and scapula) without joint involvement. Histologically, lesions dysplay collagen necrobiosis, followed by cyst formation and a foreign-body response with calcification Two forms of tumoral calcinosis have been described: normocalcemic tumoral calcinosis and familial tumoral calcinosis." "" + "thiopurine S-methyltransferase deficiency" "An acquired metabolic disease that is has its basis in the disruption of thiopurine S-methyltransferase activity." "" + "camptodactyly-tall stature-scoliosis-hearing loss syndrome" "Camptodactyly-tall stature-scoliosis-hearing loss syndrome is characterised by camptodactyly, tall stature, scoliosis, and hearing loss (CATSHL). It has been described in around 30 individuals from seven generations of the same family. The syndrome is caused by a missense mutation in the FGFR3 gene, leading to a partial loss of function of the encoded protein, which is a negative regulator of bone growth." "" + "pigmented nodular adrenocortical disease, primary, 2" "Any primary pigmented nodular adrenocortical disease in which the cause of the disease is a mutation in the PDE11A gene." "" + "primary pigmented nodular adrenocortical disease" "A form of bilateral adrenocortical hyperplasia that is often associated with adrenocorticotrophin hormone (ACTH) independent Cushing syndrome and is characterized by small to normal sized adrenal glands containing multiple small cortical pigmented nodules (less than 1 cm in diameter)." "" + "arrhythmogenic right ventricular dysplasia 11" "Any familial isolated arrhythmogenic right ventricular dysplasia in which the cause of the disease is a mutation in the DSC2 gene." "" + "retinal cone dystrophy 4" "Any cone dystrophy in which the cause of the disease is a mutation in the CACNA2D4 gene." "" + "agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome" "Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome combines agammaglobulinemia with marked microcephaly, significant developmental delay, craniosynostosis, a severe dermatitis, cleft palate, narrowing of the choanae, and blepharophimosis. It has been described in three siblings, two males and one female, born to nonconsanguineous parents. Transmission is probably autosomal recessive. It has been suggested that this syndrome represents a new form of agammaglobulinemia due to a defect in early B-cell maturation." "" + "pigmented nodular adrenocortical disease, primary, 1" "Any primary pigmented nodular adrenocortical disease in which the cause of the disease is a mutation in the PRKAR1A gene." "" + "combined oxidative phosphorylation defect type 2" "Combined oxidative phosphorylation defect type 2 is a rare mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by severe intrauterine growth retardation, neonatal limb edema and redundant skin on the neck (hydrops), developmental brain defects (corpus callosum agenesis, ventriculomegaly), brachydactyly, dysmorphic facial features with low set ears, severe intractable neonatal lactic acidosis with lethargy, hypotonia, absent spontaneous movements and fatal outcome. Markedly decreased activity of complex I, II + III and IV in muscle and liver have been determined." "" + "preterm premature rupture of the membranes" "A female reproductive system disease characterized by rupture of chorioamniotic membranes before 37 weeks of gestation." "" + "fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3" "Combined oxidative phosphorylation deficiency type 3 is an extremely rare clinically heterogenous disorder described in about 5 patients to date. Clinical signs included hypotonia, lactic acidosis, and hepatic insufficiency, with progressive encephalomyopathy or hypertrophic cardiomyopathy." "" + "maturity-onset diabetes of the young type 7" "Any maturity-onset diabetes of the young in which the cause of the disease is a mutation in the KLF11 gene." "" + "hypomyelinating leukodystrophy 5" "Hypomyelination-congenital cataract is characterized by the onset of cataract either at birth or in the first two months of life, delayed psychomotor development by the end of the first year of life and moderate intellectual deficit." "" + "glaucoma 1, open angle, M" "" + "mandibulofacial dysostosis-microcephaly syndrome" "Mandibulofacial dysostosis-microcephaly syndrome is a rare genetic multiple malformation disorder characterized by malar and mandibular hypoplasia, microcephaly, ear malformations with associated conductive hearing loss, distinctive facial dysmorphism, developmental delay, and intellectual disability." "" + "atypical Gaucher disease due to saposin C deficiency" "Any Gaucher disease in which the cause of the disease is a mutation in the PSAP gene." "" + "congenital myasthenic syndrome 12" "Any congenital myasthenic syndromes with glycosylation defect in which the cause of the disease is a mutation in the GFPT1 gene." "" + "congenital myasthenic syndromes with glycosylation defect" "" + "Rubinstein-Taybi syndrome due to 16p13.3 microdeletion" "Chromosome 16p13.3deletion syndrome is a chromosome abnormality that can affect many parts of the body. People with this condition are missing a small piece (deletion) of chromosome 16 at a location designated p13.3. Although once thought to be a severe form of Rubinstein-Taybi syndrome, it is now emerging as a unique syndrome. Signs and symptoms may include failure to thrive, hypotonia (reduced muscle tone), short stature, microcephaly (unusually small head), characteristic facial features, mild to moderate intellectual disability, organ anomalies (i.e. heart and/or kidney problems), and vulnerability to infections. Chromosome testing of both parents can provide information about whether the deletion was inherited. In most cases, parents do not have any chromosome abnormalities. However, sometimes one parent has a balanced translocation where a piece of a chromosome has broken off and attached to another one with no gain or loss of genetic material. The balanced translocation normally does not cause signs or symptoms, but it increases the risk for having a child with a chromosome abnormality like a deletion. Treatment is based on the signs and symptoms present in each person.To learn more about chromosome abnormalities in general, view our GARD fact sheet on Chromosome Disorders." "" + "chromosome 16p13.3 deletion syndrome" "" + "insulin-resistance syndrome type A" "Type A insulin-resistance syndrome belongs to the group of extreme insulin-resistance syndromes (which includes leprechaunism, the lipodystrophies, Rabson-Mendenhall syndrome and type B insulin resistance syndrome) and is characterized by the triad of hyperinsulinemia, acanthosis nigricans (skin lesions associated with insulin resistance), and signs of hyperandrogenism in females without lipodystrophy and who are not overweight." "" + "herpes simplex encephalitis" "Herpes simplex virus encephalitis (HSE) is caused by the infection of the central nervous system by Herpes simplex virus (HSV) that could have a devastating clinical course and a potentially fatal outcome particularly with delay or lack of treatment. HSV often involves the frontal and temporal lobes, usually asymmetrically, resulting in personality changes, cognitive impairment, aphasia, seizures, and focal weakness." "" + "obsolete infectious disease with dementia" "" "true" + "diabetes mellitus, transient neonatal, 3" "Any transient neonatal diabetes mellitus in which the cause of the disease is a mutation in the KCNJ11 gene." "" + "retinitis pigmentosa 36" "Any retinitis pigmentosa in which the cause of the disease is a mutation in the PRCD gene." "" + "corticosterone methyloxidase type 2 deficiency" "" + "Leber congenital amaurosis 12" "Any Leber congenital amaurosis in which the cause of the disease is a mutation in the RD3 gene." "" + "hereditary angioedema type 3" "Hereditary angioedema type 3 (HAE 3) is a form of hereditary angioedema characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway." "" + "hereditary angioedema" "Hereditary angioedema (HAE) is a genetic disease characterized by the occurrence of transitory and recurrent subcutaneous and/or submucosal edemas resulting in swelling and/or abdominal pain." "" + "hereditary angioedema with normal C1Inh" "" + "cataract 11 multiple types" "Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the PITX3 gene." "" + "hypogonadotropic hypogonadism 4 with or without anosmia" "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the PROK2 gene." "" + "Diamond-Blackfan anemia 3" "Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS24 gene." "" + "palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome" "Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome is characterised by sex reversal in males with a 46, XX (SRY-negative) karyotype, palmoplantar hyperkeratosis and a predisposition to squamous cell carcinoma. To date, five cases (four of whom were brothers) have been described. The aetiology is unknown." "" + "xeroderma pigmentosum group B" "Any xeroderma pigmentosum in which the cause of the disease is a mutation in the ERCC3 gene." "" + "hereditary hemorrhagic telangiectasia type 4" "" + "autism, susceptibility to, 7" "" + "combined oxidative phosphorylation defect type 4" "Combined oxidative phosphorylation defect type 4 is a rare mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by a neonatal onset of severe metabolic acidosis and respiratory distress, persistent lactic acidosis with episodes of metabolic crises, developmental regression, microcephaly, abnormal gaze fixation and pursuit, axial hypotonia with limb spasticity and reduced spontaneous movements. Neuroimaging studies reveal polymicrogyria, white matter abnormalities and multiple cystic brain lesions, including basal ganglia, and cerebral atrophy. Decreased activity of complex I and IV have been determined in muscle biopsy." "" + "holoprosencephaly, recurrent infections, and monocytosis" "" + "osteogenesis imperfecta type 7" "Any osteogenesis imperfecta in which the cause of the disease is a mutation in the CRTAP gene." "" + "split-hand/foot malformation with long bone deficiency 2" "" + "nemaline myopathy 7" "Any nemaline myopathy in which the cause of the disease is a mutation in the CFL2 gene." "" + "Joubert syndrome 6" "Any Joubert syndrome in which the cause of the disease is a mutation in the TMEM67 gene." "" + "age related macular degeneration 4" "Any age-related macular degeneration in which the cause of the disease is a mutation in the CFH gene." "" + "deafness with labyrinthine aplasia, microtia, and microdontia" "Deafness with labyrinthine aplasia, microtia, and microdontia (LAMM) is a genetic transmission deafness syndrome." "" + "psoriasis 8, susceptibility to" "" + "optic atrophy 5" "" + "brachydactyly-syndactyly syndrome" "Brachydactyly-syndactyly, Zhao type is a recently described syndrome associating a brachydactyly type A4 (short middle phalanges of the 2nd and 5th fingers and absence of middle phalanges of the 2nd to 5th toes) and a syndactyly of the 2nd and 3rd toes. Metacarpals and metatarsals anomalies are common." "" + "neutral lipid storage myopathy" "" + "nephrotic syndrome, type 3" "Any nephrotic syndrome in which the cause of the disease is a mutation in the PLCE1 gene." "" + "Noonan syndrome 4" "Any Noonan syndrome in which the cause of the disease is a mutation in the SOS1 gene." "" + "Kostmann syndrome" "Kostmann syndrome is a rare, severe, congenital neutropenia disorder characterized by a lack of mature neutrophils (absolute neutrophil counts less than 500 cells/mm3) associated with frequent, recurrent bacterial infections (e.g. otitis media, pneumonia, sinusitis, urinary tract infections, abscesses of skin and/or liver) and increased promyelocytes in the bone marrow. Periodontal disease, as well as neurological symptoms, such as cognitive impairment, severe neurodegeneration and epilepsy, have been reported in some patients." "" + "autosomal recessive severe congenital neutropenia" "" + "autosomal recessive ataxia, Beauce type" "A rare disorder characterised by a slowly progressive pure cerebellar ataxia associated with dysarthria. It has been described in 53 individuals from 26 families of Canadian origin. The mode of transmission is autosomal recessive. Positional cloning has led to the identification of several gene mutations." "" + "iris pattern" "" + "alopecia areata 2" "" + "multiple endocrine neoplasia type 4" "Multiple endocrine neoplasia type 4 (MEN4) is a very rare form of MEN, an inherited cancer syndrome, characterized by parathyroid and anterior pituitary tumors, possibly associated with adrenal, renal, and reproductive organ tumors." "" + "cerebrooculofacioskeletal syndrome 2" "Any COFS syndrome in which the cause of the disease is a mutation in the ERCC2 gene." "" + "cerebrooculofacioskeletal syndrome 4" "Any COFS syndrome in which the cause of the disease is a mutation in the ERCC1 gene." "" + "Cornelia de Lange syndrome 3" "Any Cornelia de Lange syndrome in which the cause of the disease is a mutation in the SMC3 gene." "" + "DK1-CDG" "DK1-CDG is characterised by muscular hypotonia and ichthyosis. It has been described in four children from two consanguineous families. All the affected children died during early infancy, two from dilated cardiomyopathy. The syndrome is caused by a deficiency in dolichol kinase 1 (DK1), an enzyme involved in the de novo biosynthesis of dolichol phosphate. The mutations identified in the DK1 gene led to a 96 to 98% reduction in DK activity." "" + "congenital disorder of glycosylation with dilated cardiomyopathy" "True" + "cardiomyopathy-hypotonia-lactic acidosis syndrome" "Cardiomyopathy-hypotonia-lactic acidosis syndrome is characterised by hypertrophic cardiomyopathy, muscular hypotonia and the presence of lactic acidosis at birth. It has been described in two sisters (both of whom died within the first year of life) from a nonconsanguineous Turkish family. The syndrome is caused by a homozygous point mutation in the exon 3A of the SLC25A3 gene encoding a mitochondrial membrane transporter." "" + "epiphyseal dysplasia, Baumann type" "" + "primary immunodeficiency syndrome due to p14 deficiency" "Primary immunodeficiency syndrome due to p14 deficiency is characterised by short stature, hypopigmentation, coarse facies and frequent bronchopulmonary Streptococcus pneumoniae infections." "" + "obsolete invasive pneumococcal disease, recurrent isolated, 1" "" "true" + "congenital anomalies of kidney and urinary tract 1" "Any congenital anomaly of kidney and urinary tract in which the cause of the disease is a mutation in the DSTYK gene." "" + "congenital anomaly of kidney and urinary tract" "A urinary system disease characterized by structural malformations in the kidney and/or urinary tract containing vesicoureteral reflux." "" + "holoprosencephaly 7" "Any holoprosencephaly in which the cause of the disease is a mutation in the PTCH1 gene." "" + "holoprosencephaly 9" "Any holoprosencephaly in which the cause of the disease is a mutation in the GLI2 gene." "" + "Polyosteolysis-hyperostosis syndrome" "" + "Fanconi anemia complementation group N" "Any Fanconi anemia in which the cause of the disease is a mutation in the PALB2 gene." "" + "autism, susceptibility to, 11" "" + "autism, susceptibility to, 12" "" + "osteoarthritis susceptibility 4" "" + "mitral valve prolapse, myxomatous 3" "" + "body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency" "Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency is a very rare genetic skin disease characterized by severe skin laxity affecting the trunk and limbs." "" + "primary ciliary dyskinesia 6" "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the NME8 gene." "" + "Sakoda complex" "" + "vesicoureteral reflux 2" "Any vesicoureteral reflux in which the cause of the disease is a mutation in the ROBO2 gene." "" + "Potocki-Lupski syndrome" "17p11.2 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 17, typically characterized by hypotonia, poor feeding, failure to thrive, developmental delay (particularly cognitive and language deficits), mild-moderate intellectual deficit, and neuropsychiatric disorders (behavioural problems, anxiety, attention deficit hyperactivity disorder, autistic spectrum disorder, bipolar disorder). Structural cardiovascular anomalies (dilated aortic root, bicommissural aortic valve, atrial/ventricular and septal defects) and sleep disturbance (obstructive and central sleep apnea) are also frequently associated." "" + "branchiootorenal syndrome 2" "Any branchio-oto-renal syndrome in which the cause of the disease is a mutation in the SIX5 gene." "" + "supranuclear palsy, progressive, 3" "" + "asthma-related traits, susceptibility to, 4" "" + "autism, susceptibility to, 13" "" + "autoimmune pulmonary alveolar proteinosis" "Pulmonary alveolar proteinosis (PAP) is a rare lung disease characterized by the accumulation of a lipoproteinaceous substance in the distal air spaces which positively stains with periodic acid-Schiff (PAS)." "" + "quantitative and/or qualitative congenital phagocyte defect" "" + "osteogenesis imperfecta type 8" "Any osteogenesis imperfecta in which the cause of the disease is a mutation in the P3H1 gene." "" + "interstitial lung disease due to ABCA3 deficiency" "Interstitial lung disease due to ABCA3 deficiency is a rare genetic respiratory disease characterized by a variable clinical outcome ranging from a fatal respiratory distress syndrome in the neonatal period to chronic interstitial lung disease developing in infancy or childhood with chronic cough, rapid breathing, shortness of breath and recurrent pulmonary infections. Clinical manifestations of respiratory failure include grunting, intercostal retractions, nasal flaring, cyanosis, and progressive dyspnea." "" + "tooth agenesis, selective, 5" "" + "systemic lupus erythematosus, susceptibility to, 9" "Any systemic lupus erythematosus in which the cause of the disease is a mutation in the CR2 gene." "" + "coronary heart disease, susceptibility to, 7" "Any coronary artery disease in which the cause of the disease is a mutation in the CD36 gene." "" + "coronary artery disease, autosomal dominant 2" "Any coronary artery disease in which the cause of the disease is a mutation in the LRP6 gene." "" + "hypertension, essential, susceptibility to, 7" "" + "neuronal ceroid lipofuscinosis 7" "Neuronal ceroid lipofuscinosis 7 (CLN7-NCL) is a rare condition that affects the nervous system. Signs and symptoms of the condition generally develop in early childhood (average age 5 years) and may include loss of muscle coordination (ataxia), seizures that do not respond to medications, muscle twitches (myoclonus), visual impairment, and developmental regression (the loss of previously acquired skills). CLN7-NCL is caused by changes (mutations) in the MFSD8 gene and is inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms." "" + "Pitt-Hopkins syndrome" "Pitt-Hopkins syndrome (PHS) is characterized by the association of intellectual deficit, characteristic facial dysmorphism and problems of abnormal and irregular breathing." "" + "XFE progeroid syndrome" "A syndrome characterized by aged bird-like facies, lack of subcutaneous fat, dwarfism, cachexia and microcephaly. Additional features include sun-sensitivity from birth, learning disabilities, hearing loss, and visual impairment. It has material basis in homozygous mutation in the ERCC4 gene on chromosome 16p13." "" + "osteogenesis imperfecta type 5" "Osteogenesis imperfecta type V is a moderate type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures with variable severity. OI type V is characterized by mild to moderate short stature, dislocation of the radial head, mineralized interosseous membranes, hyperplasic callus, white sclera and no dentinogenesis imperfecta (DI)." "" + "osteogenesis imperfecta type 11" "Any osteogenesis imperfecta in which the cause of the disease is a mutation in the FKBP10 gene." "" + "brain-lung-thyroid syndrome" "Brain-lung-thyroid syndrome is a rare disorder characterized by congenital hypothyroidism (CH), infant respiratory distress syndrome (IRDS) and benign hereditary chorea (BHC)." "" + "complement factor I deficiency" "" + "leprosy, susceptibility to, 4" "Any leprosy in which the cause of the disease is a mutation in the LTA gene." "" + "PSAT deficiency" "Phosphoserine aminotransferase deficiency is an extremely rare form of serine deficiency syndrome characterized clinically in the two reported cases to date by acquired microcephaly, psychomotor retardation, intractable seizures and hypertonia." "" + "neurometabolic disorder due to serine deficiency" "Serine-deficiency syndrome is a very rare infantile-onset potentially treatable neurometabolic disorder characterized clinically by microcephaly, neurodevelopmental disorders and seizures. Three serine-deficiency syndromes have been described: 3-phosphoglycerate dehydrogenase (3-PGDH) deficiency, 3-phosphoserine phosphatase (3-PSP) deficiency, and phosphoserine aminotransferase deficiency." "" + "prostate cancer, hereditary, 9" "" + "fibromatosis, gingival, 4" "" + "hypertension, essential, susceptibility to, 8" "" + "autism, susceptibility to, 9" "" + "autism, susceptibility to, 10" "" + "autosomal recessive nonsyndromic hearing loss 24" "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the RDX gene." "" + "episodic kinesigenic dyskinesia 2" "A dystonia characterized by autosomal dominant inheritance of recurrent brief involuntary hyperkinesias triggered by sudden movements that has material basis in variation in the chromosome region 16q13-q22.1." "" + "episodic kinesigenic dyskinesia" "Paroxysmal kinesigenic dyskinesia (PKD) is a form of paroxysmal dyskinesia, characterized by recurrent brief involuntary hyperkinesias, such as choreoathetosis, ballism, athetosis or dystonia, triggered by sudden movements." "" + "isolated microphthalmia 3" "Any isolated microphthalmia in which the cause of the disease is a mutation in the RAX gene." "" + "mycobacterium tuberculosis, susceptibility to, 2" "" + "asthma-related traits, susceptibility to, 5" "Any inherited susceptibility to asthma in which the cause of the disease is a mutation in the IRAK3 gene." "" + "autosomal recessive lower motor neuron disease with childhood onset" "A rare, genetic, neuromuscular disease characterized by proximal muscle weakness with an early involvement of foot and hand muscles following normal motor development in early childhood, a rapidly progressive disease course leading to generalized areflexic tetraplegia with contractures, severe scoliosis, hyperlordosis, and progressive respiratory insufficiency leading to assisted ventilation. Cranial nerve functions are normal and tongue wasting and fasciculations are absent. Milder phenotype with a moderate generalized weakness and slower disease progress was reported." "" + "generalized bulbospinal muscular atrophy" "" + "Alzheimer disease 12" "An Alzheimer's disease that is characterized by an associated with variation in the region 8p12-q22." "" + "inflammatory bowel disease 10" "Any inflammatory bowel disease in which the cause of the disease is a mutation in the ATG16L1 gene." "" + "polyhydramnios, megalencephaly, and symptomatic epilepsy" "" + "intellectual disability, autosomal recessive 12" "" + "intellectual disability, autosomal recessive 5" "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the NSUN2 gene." "" + "intellectual disability, autosomal recessive 6" "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the GRIK2 gene." "" + "intellectual disability, autosomal recessive 7" "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the TUSC3 gene." "" + "obsolete MRT8" "" "true" + "intellectual disability, autosomal recessive 9" "" + "intellectual disability, autosomal recessive 10" "" + "intellectual disability, autosomal recessive 11" "" + "prostate cancer, hereditary, 10" "" + "deafness-infertility syndrome" "Deafness-infertility syndrome (DIS) is a very rare syndrome associating sensorineural deafness and male infertility." "" + "partial deletion of the long arm of chromosome 15" "" + "male infertility due to sperm motility disorder" "True" + "leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome" "This disease is characterised by progressive cerebellar ataxia with pyramidal and spinal cord dysfunction, associated with distinctive MRI anomalies and increased lactate in the abnormal white matter." "" + "intellectual disability, autosomal recessive 4" "" + "acyl-CoA dehydrogenase 9 deficiency" "Acyl-CoA dehydrogenase 9 (ACAD9) deficiency is a rare disorder leading to a deficiency of complex I of the respiratory chain and is characterized by neurological dysfunction, hepatic failure and cardiomyopathy." "" + "retinitis pigmentosa 37" "Any retinitis pigmentosa in which the cause of the disease is a mutation in the NR2E3 gene." "" + "Meckel syndrome, type 4" "Any Meckel syndrome in which the cause of the disease is a mutation in the CEP290 gene." "" + "epilepsy, idiopathic generalized, susceptibility to, 13" "An inherited susceptibility or predisposition to developing juvenile myclonic epilepsy, idiopathic generalized epilepsy, or childhood absence epilepsy in which the cause of the disease is a mutation in the GABRA1 gene." "" + "coronary heart disease, susceptibility to, 8" "" + "paroxysmal nonkinesigenic dyskinesia 2" "A dystonia characterized by autosomal dominant inheritance of attacks of dystonic or choreathetotic movements precipitated by stress, fatigue, coffee or alcohol intake or menstruation that has material basis in variation in the chromosome region 2q31." "" + "paroxysmal nonkinesigenic dyskinesia" "Paroxysmal non-kinesigenic dyskinesia (PNKD) is a form of paroxysmal dyskinesia, characterized by attacks of dystonic or choreathetotic movements precipitated by stress, fatigue, coffee or alcohol intake or menstruation." "" + "Alzheimer disease 13" "An Alzheimer's disease that is characterized by an associated with variation in the region 1q21." "" + "Alzheimer disease 14" "An Alzheimer's disease that is characterized by an associated with variation in the region 1q25." "" + "obsolete Alzheimer disease 15" "" "true" + "obsolete malaria" "" "true" + "craniofacial dysplasia - osteopenia syndrome" "" + "COG8-CDG" "The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type IIh is characterised by severe psychomotor retardation, failure to thrive and intolerance to wheat and dairy products." "" + "restless legs syndrome, susceptibility to, 6" "" + "COG1-CDG" "COG1-CDG is an extremely rare form of CDG syndrome characterized clinically in the few cases reported to date by variable signs including microcephaly, growth retardation, psychomotor retardation and facial dysmorphism." "" + "microphthalmia-brain atrophy syndrome" "Microphthalmia-brain atrophy (MOBA) syndrome is a rare genetic neurodegenerative disorder characterized by congenital microphthalmia, sunken eyes, blindness, microcephaly, severe intellectual disability, progressive spasticity, and seizures. Psychomotor development is normal in the first 6-8 months of life and thereafter declines rapidly and continuously. Brain MRI reveals progressive and extensive degenerative changes, especially cortex, cerebellum, brainstem, and corpus callosum atrophy, with complete loss of cerebral white matter." "" + "hereditary spastic paraplegia 18" "A rare, complex type of hereditary spastic paraplegia characterized by progressive spastic paraplegia (presenting in early childhood) associated with delayed motor development, severe intellectual disability and joint contractures. A thin corpus callosum is equally noted on brain magnetic resonance imaging. SPG18 is caused by a mutation in the ERLIN2 gene (8p11.2) encoding the protein, Erlin-2." "" + "Charcot-Marie-Tooth disease type 4J" "Charcot-Marie-Tooth disease, type 4J (CMT4J) belongs to the genetically heterogeneous group of CMT peripheral sensorimotor polyneuropathy diseases." "" + "restless legs syndrome, susceptibility to, 5" "" + "major affective disorder 4" "" + "hereditary spastic paraplegia 32" "Autosomal recessive spastic paraplegia type 32 (SPG32) is a rare, complex type of hereditary spastic paraplegia characterized by a slowly progressive spastic paraplegia (with walking difficulties appearing at onset at 6-7 years of age) associated with mild intellectual disability. Brain imaging reveals thin corpus callosum, cortical and cerebellar atrophy, and pontine dysraphia. The SPG32 phenotype has been mapped to a locus on chromosome 14q12-q21." "" + "asphyxiating thoracic dystrophy 2" "Any Jeune syndrome in which the cause of the disease is a mutation in the IFT80 gene." "" + "glaucoma 1, open angle, N" "" + "glaucoma 1, open angle, H" "" + "obsolete generalized epilepsy with febrile seizures plus, type 3" "" "true" + "isobutyryl-CoA dehydrogenase deficiency" "An inborn error of valine metabolism. The prevalence is unknown. Only one symptomatic patient (with anaemia, failure to thrive, dilated cardiomyopathy and plasma carnitine deficiency) has been described so far, but several series of patients have been identified through newborn screening programs relying on detection of increased C(4)-carnitine levels by tandem mass spectrometry. The disorder is caused by mutations in the ACAD8 gene (11q25)." "" + "obsolete FTSD" "" "true" + "Cernunnos-XLF deficiency" "Cernunnos-XLF deficiency is a rare form of combined immunodeficiency characterized by microcephaly, growth retardation, and T and B cell lymphopenia." "" + "spastic ataxia 2" "Autosomal recessive spastic paraplegia type 58 is a rare, complex subtype of hereditary spastic paraplegia characterized by variable onset of slowly progressive lower limb spasticity and weakness and prominent cerebellar ataxia, associated with gait disturbances, dysarthria, increased deep tendon reflexes and extensor plantar responses. Additional features may include involuntary movements (i.e. clonus, tremor, fasciculations, chorea), decreased vibration sense, oculomotor abnormalities (e.g. nystagmus) and distal amyotrophy in the upper and lower limbs." "" + "spastic ataxia" "" + "autosomal recessive limb-girdle muscular dystrophy type 2L" "A form of limb-girdle muscular dystrophy most often characterized by an adult onset (but ranging from 11 to 51 years) of mainly proximal lower limb weakness, with difficulties standing on tiptoes being one of the initial signs. Proximal upper limb and distal lower limb weakness is also common as well as atrophy of the quadriceps (most commonly), biceps brachii, and lower leg muscles. However, calf hypertrophy has also been reported in some cases. LGMD2L progresses slowly, with most patients remaining ambulatory until late adulthood." "" + "qualitative or quantitative defects of fukutin" "" + "persistent hyperplastic primary vitreous, autosomal dominant" "" + "atrial septal defect 4" "Any atrial heart septal defect in which the cause of the disease is a mutation in the TBX20 gene." "" + "myoclonic epilepsy, juvenile, susceptibility to, 4" "" + "lethal congenital contracture syndrome 3" "Lethal congenital contracture syndrome type 3 is a rare arthrogryposis syndrome characterized by clinical features identical to Lethal congenital contracture syndrome type 2 (i.e. multiple congenital contactures (typically extended elbows and flexed knees), micrognathia, anterior horn cells degeneration, skeletal muscle atrophy (mainly in the lower limbs), in the absence of hydrops, pterygia or bone fractures), but without bladder enlargement." "" + "Mungan syndrome" "" + "brachydactyly type B2" "Brachydactyly type B2 is a rare, genetic congenital limb malformation disorder characterized by hypoplasia/aplasia of distal and/or middle phalanges in fingers and toes II-V (frequently severe in fingers/toes IV-V, milder in fingers/toes II-III) in association with proximal, and occasionally distal, symphalangism, fusion of carpal/tarsal bones and partial cutaneous syndactyly. Additional reported features include proximal placement of thumbs, sensorineural hearing loss and farsightedness." "" + "age related macular degeneration 9" "Any age-related macular degeneration in which the cause of the disease is a mutation in the C3 gene." "" + "susceptibility to visceral leishmaniasis, 2" "" + "susceptibility to visceral leishmaniasis, 3" "" + "Usher syndrome type 2D" "Any Usher syndrome in which the cause of the disease is a mutation in the WHRN gene." "" + "Plasmodium falciparum fever episodes quantitative trait locus 1" "" + "spastic ataxia 3" "Any autosomal recessive spastic ataxia in which the cause of the disease is a mutation in the MARS2 gene." "" + "cataract 33" "Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the BFSP1 gene." "" + "asthma-related traits, susceptibility to, 6" "" + "dilated cardiomyopathy 1W" "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the VCL gene." "" + "Tented eyebrows" "" + "Legius syndrome" "Legius syndrome, also known as NF1-like syndrome, is a rare, genetic skin pigmentation disorder characterized by multiple cafC)-au-lait macules with or without axillary or inguinal freckling." "" + "autosomal recessive nonsyndromic hearing loss 63" "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the LRTOMT gene." "" + "tremor, hereditary essential, 3" "" + "cholelithiasis" "The presence of calculi in the gallbladder." "" + "colorectal cancer, susceptibility to, 2" "" + "age related macular degeneration 10" "Any age-related macular degeneration in which the cause of the disease is a mutation in the TLR4 gene." "" + "corticosteroid-binding globulin deficiency" "Corticosteroid-binding globulin deficiency is a genetic disorder characterized by extreme tiredness (fatigue), particularly after physical exertion, and low blood pressure (hypotension). Corticosteroid-binding globulin (CBG) is a protein primarily produced in the liver that attaches to cortisol, a hormone with numerous functions, including maintaining blood sugar levels, protecting the body from stress, and suppressing inflammation.When cortisol is needed in the body, CBG delivers the cortisol where it is needed and releases it. Signs and symptoms of CBG deficiency vary. While some individuals may experience no symptoms, others are found to have a fatty liver and chronic pain. Some people with CBG deficiency also have chronic fatigue syndrome. CGB deficiency is caused by mutations in the SERPINA6 gene. The SERPINA6 gene is commonly also referred to as the CBG gene. Both autosomal dominant and autosomal recessive inheritance have been reported.While there is still no cure, treatment options will depend on the type and severity of symptoms present and may involve several specialists." "" + "autosomal recessive osteopetrosis 4" "Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the CLCN7 gene." "" + "atrial fibrillation, familial, 4" "Any familial atrial fibrillation in which the cause of the disease is a mutation in the KCNE2 gene." "" + "atrial fibrillation, familial, 5" "" + "autosomal recessive osteopetrosis 6" "Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the PLEKHM1 gene." "" + "nephronophthisis 7" "Any nephronophthisis in which the cause of the disease is a mutation in the GLIS2 gene." "" + "febrile seizures, familial, 7" "" + "susceptibility to infection due to TYK2 deficiency" "Any autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency in which the cause of the disease is a mutation in the TYK2 gene." "" + "autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency" "Autosomal recessive form of mendelian susceptibility to mycobacterial diseases due to a partial deficiency." "True" + "pontocerebellar hypoplasia type 6" "Pontocerebellar hypoplasia type 6 (PCH6) is a rare form of pontocerebellar hypoplasia characterized clinically at birth by hypotonia, clonus, epilepsy impaired swallowing and from infancy by progressive microencephaly, spasticity and lactic acidosis." "" + "arrhythmogenic right ventricular dysplasia 12" "Any familial isolated arrhythmogenic right ventricular dysplasia in which the cause of the disease is a mutation in the JUP gene." "" + "major affective disorder 5" "" + "major affective disorder 6" "" + "familial cavitary optic disc anomaly" "" + "cataract 17 multiple types" "Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CRYBB1 gene." "" + "premature ovarian failure 5" "Any primary ovarian failure in which the cause of the disease is a mutation in the NOBOX gene." "" + "Noonan syndrome 5" "Any Noonan syndrome in which the cause of the disease is a mutation in the RAF1 gene." "" + "LEOPARD syndrome 2" "Any Noonan syndrome with multiple lentigines in which the cause of the disease is a mutation in the RAF1 gene." "" + "renal tubular acidosis, distal, with nephrocalcinosis, short stature, intellectual disability, and distinctive facies" "" + "glycogen storage disease due to muscle and heart glycogen synthase deficiency" "Glycogen storage disease due to muscle and heart glycogen synthase deficiency is characterised by muscle and heart glycogen deficiency. It has been described in three siblings (two brothers and their younger sister). The older brother died at 10.5 years of age as a result of sudden cardiac arrest and the younger brother presented with hypertrophic cardiomyopathy, abnormal heart rate and blood pressure during exercise, and muscle fatigability. The sister showed no symptoms but a lack of glycogen was identified through muscle biopsy. The syndrome is caused by homozygous missense mutations in the gene encoding muscle glycogen synthase." "" + "Joubert syndrome 7" "Any Joubert syndrome in which the cause of the disease is a mutation in the RPGRIP1L gene." "" + "Meckel syndrome, type 5" "Any Meckel syndrome in which the cause of the disease is a mutation in the RPGRIP1L gene." "" + "otosclerosis 4" "" + "otosclerosis 7" "" + "Waardenburg syndrome type 2E" "Any Waardenburg syndrome type 2 in which the cause of the disease is a mutation in the SOX10 gene." "" + "autosomal recessive limb-girdle muscular dystrophy type 2M" "A form of limb-girdle muscular dystrophy characterized by an infantile onset of hypotonia, axial and proximal lower limb weakness (with severe weakness noted after febrile illnesses), cardiomyopathy and normal or reduced intelligence. Hypertrophy of calves, thighs, and triceps have also been reported in some cases." "" + "renal tubular acidosis, distal, 4, with hemolytic anemia" "Distal renal tubular acidosis (dRTA) with anemia is a very rare form of distal renal tubular acidosis (dRTA) characterized by a defect in renal acidification and hereditary hemolytic anemia." "" + "constitutional hemolytic anemia due to membrane defect" "A group of inherited hemolytic anemias caused by erythrocyte membrane defects. This includes hereditary pyropoikilocytosis, hereditary spherocytosis and hereditary elliptocytosis." "True" + "cataract 12 multiple types" "A cataract that has material basis in heterozygous mutation in the gene encoding beaded filament structural protein-2 (BFSP2) on chromosome 3q22." "" + "celiac disease, susceptibility to, 6" "" + "lissencephaly due to TUBA1A mutation" "Lissencephaly (LIS) due to TUBA1A mutation is a congenital cortical development anomaly due to abnormal neuronal migration involving neocortical and hippocampal lamination, corpus callosum, cerebellum and brainstem. A large clinical spectrum can be observed, from children with severe epilepsy and intellectual and motor deficit to cases with severe cerebral dysgenesis in the antenatal period leading to pregnancy termination due to the severity of the prognosis." "" + "dilated cardiomyopathy 1X" "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the FKTN gene." "" + "benign familial mesial temporal lobe epilepsy" "Benign familial mesial temporal lobe epilepsy is a rare epilepsy characterized by seizures with viscerosensory or experential auras, onset in adolescence or early adulthood and good prognosis. It is defined as at least 24 months of seizure freedom with or without antiepileptic medication." "" + "familial temporal lobe epilepsy 4" "A temporal lobe epilepsy characterized by autosomal dominant inheritance of occipitotemporal lobe epilepsy and migraine with visual aura and that has material basis in variation in the chromosome region 9q21-q22." "" + "familial febrile seizures 9" "" + "primary lateral sclerosis, adult, 1" "" + "microphthalmia, isolated, with coloboma 5" "Any microphthalmia, isolated, with coloboma in which the cause of the disease is a mutation in the SHH gene." "" + "hirschsprung disease, susceptibility to, 9" "" + "peripapillary atrophy, beta type" "" + "dystonia with cerebellar atrophy" "" + "spondylometaphyseal dysplasia, East African type" "" + "early-onset myopathy with fatal cardiomyopathy" "" + "migraine with or without aura, susceptibility to, 12" "" + "spondyloepiphyseal dysplasia, Cantu type" "Spondyloepiphyseal dysplasia, Cantu type is an extremely rare type of spondyloepiphyseal dysplasia described in about 5 patients to date and characterized by clinical signs including short stature, peculiar facies with blepharophimosis, upward slanted eyes, abundant eyebrows and eyelashes, coarse voice, and short hands and feet (brachymetacarpalia, brachymetatarsalia and brachyphalangia)." "" + "renal hypomagnesemia 4" "Any primary hypomagnesemia in which the cause of the disease is a mutation in the EGF gene." "" + "familial primary hypomagnesemia with normocalciuria and normocalcemia" "Familial primary hypomagnesemia with normocalciuria and normocalcemia (FPHNN) is a form of familial primary hypomagnesemia (FPH), characterized by low serum magnesium (Mg) values but inappropriate normal urinary Mg values (i.e. renal hypomagnesemia). The typical symptoms are weakness of the limbs, vertigo, headaches, seizures, brisk tendon reflexes and mild to moderate psychomotor delay." "" + "hypotonia with lactic acidemia and hyperammonemia" "This syndrome is characterised by severe hypotonia, lactic academia and congenital hyperammonaemia." "" + "encephalopathy due to prosaposin deficiency" "Encephalopathy due to prosaposin deficiency is a lysosomal storage disease belonging to the group of sphingolipidoses." "" + "Krabbe disease, atypical, due to saposin A deficiency" "" + "progressive myoclonic epilepsy type 3" "Any progressive myoclonic epilepsy in which the cause of the disease is a mutation in the KCTD7 gene." "" + "Dauwerse-Peters syndrome" "" + "Leber congenital amaurosis 10" "Any Leber congenital amaurosis in which the cause of the disease is a mutation in the CEP290 gene." "" + "familial cold autoinflammatory syndrome 2" "An autoinflammatory disease caused by mutations in the NLRP12 gene. It is characterized by periodic fevers beginning in the first year of life that are triggered by cold exposure. Episodes occur more than once per month." "" + "lipoprotein glomerulopathy" "" + "autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome" "Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome is characterised by the association of hematuria (without proteinuria) with extrarenal manifestations: retinal arterial tortuosities responsible for retinal haemorrhages, cardiac arrhythmia, Raynaud phenomena and congenital muscular contractures." "" + "mucocutaneous lymph node syndrome" "Kawasaki disease (KD) is a febrile, systemic, self-limiting vasculitis affecting children and characterized by inflammation in the medium sized vessels associated with coronary arterial aneurysms (CAA) that may be life threatening when untreated. KD is the most common cause of acquired heart disease in children in developed countries and is a risk factor for ischemic heart disease in adulthood." "" + "Brugada syndrome 2" "Any Brugada syndrome in which the cause of the disease is a mutation in the GPD1L gene." "" + "erythrocytosis, familial, 4" "Any familial polycythemia in which the cause of the disease is a mutation in the EPAS1 gene." "" + "aortic aneurysm, familial thoracic 6" "Any familial thoracic aortic aneurysm and aortic dissection in which the cause of the disease is a mutation in the ACTA2 gene." "" + "elliptocytosis 1" "Any hereditary elliptocytosis in which the cause of the disease is a mutation in the EPB41 gene." "" + "tremor, hereditary essential, and idiopathic normal pressure hydrocephalus" "" + "autosomal recessive bestrophinopathy" "Autosomal recessive bestrophinopathy (ARB) is a retinal dystrophy, characterized by central visual loss in the first 2 decades of life, associated with an absent electrooculogram (EOG) light rise and a reduced electroretinogram (ERG)." "" + "SERKAL syndrome" "SERKAL (SEx Reversion, Kidneys, Adrenal and Lung dysgenesis) syndrome is characterised by female to male sex reversal and developmental anomalies of the kidneys, adrenal glands and lungs." "" + "Temple-Baraitser syndrome" "Temple-Baraitser syndrome is a rare developmental anomalies syndrome characterized by severe intellectual disability and distal hypoplasia of digits, particularly of thumbs and halluces, with nail aplasia or hypoplasia. Facial dysmorphism with a pseudo-myopathic appearance has been reported, which may include high anterior hairline or low frontal hairline with central cowlick, flat forehead, ptosis, hypertelorism, downslanting palpebral fissures, epicanthal folds, ears with thick helices, broad depressed nasal bridge with anteverted nares, short columella, long philtrum, high-arched palate, broad mouth with thick vermilion border of the upper or the lower lip and downturned corners. Marked hypotonia, seizures and global developmental delay have been reported, associated with autistic spectrum disorder manifestations in some patients." "" + "long QT syndrome 9" "Any long QT syndrome in which the cause of the disease is a mutation in the CAV3 gene." "" + "long QT syndrome 10" "Any long QT syndrome in which the cause of the disease is a mutation in the SCN4B gene." "" + "long QT syndrome 11" "Any long QT syndrome in which the cause of the disease is a mutation in the AKAP9 gene." "" + "microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome" "This syndrome is characterised by the association of microtia, eye coloboma, and imperforation of the nasolacrimal duct." "" + "chromosome 22q11.2 deletion syndrome, distal" "Distal 22q11.2 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 22 with a highly variable phenotype characterized by prematurity, pre- and post-natal growth retardation, developmental delay (particularly speech), mild intellectual disability, variable cardiac defects, and minor skeletal anomalies (such as clinodactyly). Dysmorphic features include prominent forehead, arched eyebrows, deep set eyes, narrow upslanting palpebral fissures, ear abnormalities, hypoplastic alae nasi, smooth philtrum, down-turned mouth, thin upper lip, retro/micrognatia and pointed chin. For certain very distal deletions, there is a risk of developing malignant rhabdoid tumours." "" + "prostate cancer, hereditary, 12" "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." "" + "Brugada syndrome 3" "Any Brugada syndrome in which the cause of the disease is a mutation in the CACNA1C gene." "" + "Brugada syndrome 4" "Any Brugada syndrome in which the cause of the disease is a mutation in the CACNB2 gene." "" + "dilated cardiomyopathy 1Y" "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the TPM1 gene." "" + "dilated cardiomyopathy 1Z" "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the TNNC1 gene." "" + "dilated cardiomyopathy 2A" "A dilated cardiomyopathy that has material basis in mutation in the TNNI3 gene on chromosome 19q13." "" + "glycogen storage disease due to aldolase A deficiency" "Glycogen storage disease due to aldolase A deficiency is an extremely rare glycogen storage disease characterized by hemolytic anemia with or without myopathy or intellectual deficit. Myopathy can be severe enough to result in fatal rhabdomyolysis in some patients. A family with episodic rhabdomyolysis (triggerd by fever) without hemolytic anemia has recently been reported." "" + "primary ciliary dyskinesia 7" "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAH11 gene." "" + "mesomelic dysplasia, camera type" "" + "lethal arthrogryposis-anterior horn cell disease syndrome" "" + "aortic aneurysm, familial abdominal, 3" "" + "aneurysm, intracranial berry, 6" "" + "amyotrophic lateral sclerosis type 9" "Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the ANG gene." "" + "nanophthalmos 3" "" + "episodic ataxia type 7" "Episodic ataxia type 7 (EA7) is an exceedingly rare form of Hereditary episodic ataxia characterized by ataxia with weakness, vertigo, and dysarthria without interictal findings." "" + "proximal 16p11.2 microdeletion syndrome" "The proximal 16p11.2 microdeletion syndrome is a chromosomal anomaly characterized by developmental and language delays, mild intellectual disability, social impairments (autism spectrum disorders), mild variable dysmorphism and predisposition to obesity." "" + "lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome" "Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome is characterised by immune deficiency, gonadal dysgenesis and fatal lung fibrosis. So far, it has been described in two sisters born to consanguineous parents. Both karyotypes were normal female (46,XX). No genetic anomalies could be identified by comparative genome hybridization analysis of their genomes or by analysis of genes known to be associated with these types of anomalies." "" + "primary interstitial lung disease specific to childhood" "" + "prostate cancer, hereditary, 13" "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." "" + "camptodactyly syndrome, Guadalajara type 3" "Camptodactyly syndrome, Guadalajara type 3 is a rare, genetic bone development disorder characterized by hand camptodactyly associated with facial dysmorphism (flat face, hypertelorism, telecanthus, symblepharon, simplified ears, retrognathia) and neck anomalies (short neck with stricking pterygia, muscle sclerosis). Additional features include spinal defects (e.g. cervical and dorso-lumbar spina bifida occulta), congenital shortness of the sternocleidomastoid muscle, flexed wrists and thin hands and feet. Brain structural anomalies, multiple nevi, micropenis and mild intellectual disability are also observed. Imaging reveals increased bone traveculae, cortical thickening of long bones and delayed bone age." "" + "epilepsy, idiopathic generalized, susceptibility to, 5" "" + "chromosome 3q29 microduplication syndrome" "3q29 microduplication is a chromosomal abnormality associated with variable clinical findings including mild or moderate intellectual deficit and microcephaly." "" + "partial duplication of the long arm of chromosome 3" "Chromosome 3q duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on thelong arm (q) of chromosome 3. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 3q duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Chromosome 3q duplication can be de novo or inherited from a parent with a chromosomal rearrangement such as a balanced translocation. Treatment is based on the signs and symptoms present in each person." "" + "catecholaminergic polymorphic ventricular tachycardia 2" "Any catecholaminergic polymorphic ventricular tachycardia in which the cause of the disease is a mutation in the CASQ2 gene." "" + "epilepsy, childhood absence, susceptibility to, 6" "An inherited susceptibility or predisposition to developing child absence epilepsy or idiopathic generalized epilepsy, in which the cause of the disease is a mutation in the CACNA1H gene." "" + "RIDDLE syndrome" "An autosomal recessive disease characterized by increased radiosensitivity, immunodeficiency, mild motor control and learning difficulties, facial dysmorphism, and short stature that has material basis in homozygous or compound heterozygous mutation in the RNF168 gene on chromosome 3q29." "" + "lymphatic malformation 2" "" + "hereditary spastic paraplegia 37" "Autosomal dominant spastic paraplegia type 37 is a pure form of hereditary spastic paraplegia characterized by a childhood- to adulthood-onset of slowly progressive spastic gait, extensor plantar responses, brisk tendon reflexes in arms and legs, decreased vibration sense at ankles and urinary dysfunction. Ankle clonus is also reported in some patients." "" + "age related macular degeneration 11" "Any age-related macular degeneration in which the cause of the disease is a mutation in the CST3 gene." "" + "prostate cancer, hereditary, 11" "" + "prostate cancer, hereditary, 14" "" + "prostate cancer, hereditary, 15" "" + "asthma-related traits, susceptibility to, 7" "Any inherited susceptibility to asthma in which the cause of the disease is a mutation in the CHI3L1 gene." "" + "Stevenson-Carey syndrome" "" + "Hunter-Macdonald syndrome" "" + "chromosome 15q13.3 microdeletion syndrome" "15q13.3 microdeletion (microdel15q13.3) syndrome is characterized by a wide spectrum of neurodevelopmental disorders with no or subtle dysmorphic features." "" + "thrombocytopenia 4" "Any thrombocytopenia in which the cause of the disease is a mutation in the CYCS gene." "" + "celiac disease, susceptibility to, 7" "" + "celiac disease, susceptibility to, 8" "" + "celiac disease, susceptibility to, 9" "" + "celiac disease, susceptibility to, 10" "" + "celiac disease, susceptibility to, 11" "" + "celiac disease, susceptibility to, 12" "" + "celiac disease, susceptibility to, 13" "" + "RFT1-CDG" "RFT1-CDG is a form of congenital disorders of N-linked glycosylation characterized by poorly coordinated suck resulting in difficulty feeding and failure to thrive; myoclonic jerks with hypotonia and brisk reflexes progressing to a seizure disorder; roving eyes; developmental delay; poor to absent visual contact; and sensorineural hearing loss. Additional features that may be observed include coagulation factor abnormalities, inverted nipples and microcephaly. The disease is caused by mutations in the gene RFT1 (3p21.1)." "" + "autosomal recessive ataxia due to ubiquinone deficiency" "This syndrome is characterised by childhood-onset progressive ataxia and cerebellar atrophy." "" + "pyloric stenosis, infantile hypertrophic, 3" "" + "juvenile cataract-microcornea-renal glucosuria syndrome" "Juvenile cataract - microcornea - renal glucosuria is an extremely rare autosomal dominant association reported in a single Swiss family and characterized clinically by juvenile cataract associated with bilateral microcornea, and renal glucosuria without other renal tubular defects." "" + "hereditary spastic paraplegia 39" "This syndrome is characterised by progressive spastic paraplegia and distal muscle wasting." "" + "coronary heart disease, susceptibility to, 9" "" + "dystonia 16" "Dystonia 16 (DYT16) is a very rare and newly discovered movement disorder which is characterized by early-onset progressive limb dystonia, laryngeal and oromandibular dystonia, and parkinsonism." "" + "amyotrophic lateral sclerosis type 10" "Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the TARDBP gene." "" + "mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria" "Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria is characterised by the association of a mitochondrial encephalomyopathy and an aminoacidopathy. It has been described in two brothers presenting with developmental delay, neurological signs, deafness, exercise intolerance, lactic acidosis and elevation of several plasmatic amino acids. Mitochondria morphology was found to be abnormal on muscle biopsy. Transmission is likely to be linked to maternal mitochondrial DNA." "" + "mitochondrial DNA depletion syndrome 8a" "Any mitochondrial DNA depletion syndrome in which the cause of the disease is a mutation in the RRM2B gene." "" + "hypouricemia, renal, 2" "" + "ANE syndrome" "ANE syndrome is a rare, genetic, neuro-endocrino-cutaneous disorder characterized by highly variable degrees of alopecia, moderate to severe intellectual disability, progressive, late-onset motor deterioration and combined anterior pituitary hormone deficiency, manifesting with central hypogonadotropic hypogonadism, delayed or absent puberty, growth hormone deficiency (resulting in short stature), progressive central adrenal insufficiency and a hypoplastic anterior pituitary gland. Additional features include hypodontia, flexural reticulate hyperpigmentation, gynecomastia, microcephaly and kyphoscoliosis." "" + "hypophosphatemic rickets and hyperparathyroidism" "" + "retinitis pigmentosa 41" "Any retinitis pigmentosa in which the cause of the disease is a mutation in the PROM1 gene." "" + "otosclerosis 8" "" + "deafness, unilateral, with delayed endolymphatic hydrops" "" + "hypertrophic cardiomyopathy 11" "Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the ACTC1 gene." "" + "trichoepithelioma, multiple familial, 2" "" + "autism, susceptibility to, 15" "" + "oculoauricular syndrome" "Oculoauricular syndrome, Schorderet type is a rare, genetic developmental defect during embryogenesis characterized by various ophthalmic anomalies (including congenital microphthalmia, microcornea, cataract, anterior segment dysgenesis, ocular coloboma and early onset rod-cone dystrophy), and abnormal external ears (low-set pinna with crumpled helix, narrow intertragic incisure, abnormal bridge connecting the crus of the helix and the anthelix, narrow external acoustic meatus, and lobule aplasia)." "" + "diarrhea-vomiting due to trehalase deficiency" "This syndrome is characterised by diarrhoea and vomiting after ingestion of trehalose, a disaccharide found mainly in mushrooms." "" + "hypertrophic cardiomyopathy 12" "Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the CSRP3 gene." "" + "childhood onset GLUT1 deficiency syndrome 2" "Paroxysmal exertion-induced dyskinesia (PED) is a form of paroxysmal dyskinesia, characterized by painless attacks of dystonia of the extremities triggered by prolonged physical activities." "" + "ectodermal dysplasia and immunodeficiency 2" "" + "epidermolysis bullosa simplex with pyloric atresia" "Epidermolysis bullosa simplex with pyloric atresia (EBS-PA) is a basal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized severe blistering with widespread congenital absence of skin and pyloric atresia." "" + "dilated cardiomyopathy 1AA" "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the ACTN2 gene." "" + "histiocytoma, Angiomatoid fibrous" "A low malignant potential soft tissue neoplasm of uncertain differentiation. It typically affects young patients, presenting as a slowly growing nodular or cystic tumor mass, most often in the subcutaneous tissues of the extremities. Occasionally, patients have systemic symptoms (anemia, fever, and weight loss). This tumor has a relatively good prognosis. A minority of patients develop local recurrences. Metastases are rare." "" + "aneurysm, intracranial berry, 7" "" + "aneurysm, intracranial berry, 8" "" + "developmental and epileptic encephalopathy, 4" "Early infantile epileptic encephalopathy 4 (EIEE4) is a form of early infantile epileptic encephalopathy, which refers to a group of neurological conditions characterized by severe seizures beginning in infancy. EIEE4, specifically, is often associated with partial complex or tonic-clonic seizures, although other seizure types have been reported. Other signs and symptoms mayinclude intellectual disability, reduced muscle tone (hypotonia), hypsarrhythmia (an irregular pattern seen on EEG), dyskinesia (involuntary movement of the body), and spastic di- or quadriplegia. EIEE4 is caused by changes (mutations) in the STXBP1 gene and is inherited in an autosomal dominant manner. Treatment is based on the signs and symptoms present in each person. For example, certain medications are often prescribed to help control seizures, although they are not always effective in all people with the condition." "" + "Dravet syndrome" "Dravet syndrome is a channelopathy with epilepsy of with onset during the first year of life, typically 4-5 months, characterized by status epilepticus and a variety of drug-resistant seizures often induced by fever, presenting in previously healthy children, and which frequently leads to cognitive and motor impairment. Dravet differs from other channelopathies usually due to a mutation in SCN1A." "" + "retinitis pigmentosa 29" "A retinitis pigmentosa that has material basis in variation in the chromosome region 4q32-q34." "" + "diastasis recti and weakness of the linea alba" "" + "Coats plus syndrome" "Coats plus syndrome is a pleiotropic multisystem disorder characterized by retinal telangiectasia and exudates, intracranial calcification with leukoencephalopathy and brain cysts, osteopenia with predisposition to fractures, bone marrow suppression, gastrointestinal bleeding and portal hypertension. It is transmitted as an autosomal recessive disease." "" + "atrial fibrillation, familial, 6" "Any familial atrial fibrillation in which the cause of the disease is a mutation in the NPPA gene." "" + "Ewing sarcoma/peripheral primitive neuroectodermal tumor" "A spectrum of malignant tumors, affecting mostly males under age 20, characterized morphologically by the presence of small round cells. Ewing sarcoma and peripheral primitive neuroectodermal tumor represent the ends of a spectrum, with Ewing sarcoma lacking evidence of neural differentiation and the markers that characterize the peripheral primitive neuroectodermal tumor. Ewing sarcoma and peripheral primitive neuroectodermal tumor may share cytogenetic abnormalities, proto-oncogene expression, cell culture and immunohistochemical abnormalities. These tumors may occur in the soft tissues or the bones. Pain and the presence of a mass are the most common clinical symptoms." "" + "maturity-onset diabetes of the young type 9" "Any maturity-onset diabetes of the young in which the cause of the disease is a mutation in the PAX4 gene." "" + "colorectal cancer, susceptibility to, 3" "Any colorectal cancer in which the cause of the disease is a mutation in the SMAD7 gene." "" + "colorectal cancer, susceptibility to, 5" "" + "colorectal cancer, susceptibility to, 6" "" + "colorectal cancer, susceptibility to, 7" "" + "hypomyelinating leukodystrophy 4" "Any leukodystrophy in which the cause of the disease is a mutation in the HSPD1 gene." "" + "scoliosis, isolated, susceptibility to, 4" "" + "scoliosis, isolated, susceptibility to, 5" "" + "atrial fibrillation, familial, 7" "Any familial atrial fibrillation in which the cause of the disease is a mutation in the KCNA5 gene." "" + "inflammatory bowel disease 12" "An inflammatory bowel disease that has material basis in variation in the chromosome region 3p21.3" "" + "chromosome 10q23 deletion syndrome" "10q22.3q23.3 microdeletion syndrome is a rare partial autosomal monosomy characterized by a mild facial dysmorphism variably including macrocephaly, broad forehead, hypertelorism or hypotelorism, deep-set eyes, upslanting or downslanting palpebral fissures, low-set ears, flat nasal bridge, smooth philtrum, thin upper lip), cleft palate, cerebellar and cardiac malformations, psychomotor development delay, and behavioral abnormalities (attention deficit hyperactivity disorder, autism). Other rare features may include congenital breast aplasia, arachnodactyly, joint hyperlaxity, club feet, feeding difficulties, failure to thrive." "" + "inflammatory bowel disease 13" "Any inflammatory bowel disease in which the cause of the disease is a mutation in the ABCB1 gene." "" + "inflammatory bowel disease 14" "Any inflammatory bowel disease in which the cause of the disease is a mutation in the IRF5 gene." "" + "Crouzon syndrome-acanthosis nigricans syndrome" "Crouzon syndrome with acanthosis nigricans (CAN) is a very rare, clinically heterogeneous form of faciocraniostenosis with Crouzon-like features and premature synostosis of cranial sutures (Crouzon disease), associated with acanthosis nigricans (AN)." "" + "systemic lupus erythematosus, susceptibility to, 10" "Any systemic lupus erythematosus in which the cause of the disease is a mutation in the IRF5 gene." "" + "systemic lupus erythematosus, susceptibility to, 11" "Any systemic lupus erythematosus in which the cause of the disease is a mutation in the STAT4 gene." "" + "systemic lupus erythematosus, susceptibility to, 12" "" + "inflammatory bowel disease 15" "An inflammatory bowel disease that has material basis in variation in the chromosome region 10q21." "" + "inflammatory bowel disease 16" "An inflammatory bowel disease that has material basis in variation in the chromosome region 9q32." "" + "pyogenic bacterial infections due to MyD88 deficiency" "Pyogenic bacterial infection due to MyD88 deficiency is a primary immunodeficiency characterized by increased susceptibility to pyogenic bacterial infections, including invasive pneumococcal, invasive staphylococcal and pseudomonas disease." "" + "inflammatory bowel disease 17" "Any inflammatory bowel disease in which the cause of the disease is a mutation in the IL23R gene." "" + "inflammatory bowel disease 18" "An inflammatory bowel disease that has material basis in variation in the chromosome region 5p13.1." "" + "melanoma, cutaneous malignant, susceptibility to, 7" "" + "epilepsy, childhood absence, susceptibility to, 5" "Any childhood absence epilepsy in which the cause of the disease is a mutation in the GABRB3 gene." "" + "primary ciliary dyskinesia 8" "A primary ciliary dyskinesia that has material basis in variation in the chromosome region 15q24-q25." "" + "inflammatory bowel disease 19" "Any inflammatory bowel disease in which the cause of the disease is a mutation in the IRGM gene." "" + "generalized epilepsy with febrile seizures plus, type 6" "" + "autosomal recessive congenital ichthyosis 6" "Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the NIPAL4 gene." "" + "Meckel syndrome, type 6" "Any Meckel syndrome in which the cause of the disease is a mutation in the CC2D2A gene." "" + "Joubert syndrome 9" "Any Joubert syndrome in which the cause of the disease is a mutation in the CC2D2A gene." "" + "hypophosphatemic nephrolithiasis/osteoporosis 1" "" + "dominant hypophosphatemia with nephrolithiasis or osteoporosis" "" + "hypophosphatemic nephrolithiasis/osteoporosis 2" "" + "inflammatory bowel disease 20" "An inflammatory bowel disease that has material basis in variation in the chromosome region 10q23-q24." "" + "Fontaine progeroid syndrome" "A rare premature aging syndrome characterized by pre-and postnatal growth retardation, a congenital premature-aged appearance with distinctive craniofacial dysmorphism (wide calvaria with large open anterior fontanel and wide metopic suture, broad forehead, small face, micrognathia), markedly diminished subcutaneous fat, cutis laxa and wrinkled skin, without delay in psychomotor development. Scant, brittle hair, hypoplastic nails and delayed, abnormal dentition, as well as hypoplastic distal phalanges, umbilical hernia and eye abnormalities (myopia/hyperopia, strabismus), are also commonly associated." "" + "bilateral microtia-deafness-cleft palate syndrome" "This syndrome is characterized by the association of bilateral microtia with severe to profound hearing impairment, and cleft palate." "" + "Joubert syndrome 8" "Any Joubert syndrome in which the cause of the disease is a mutation in the ARL13B gene." "" + "Birk-Barel syndrome" "Birk-Barel syndrome is an inherited condition characterized by intellectual disability, hypotonia, hyperactivity, and unusual facial features. The condition is caused by mutations in the KCNK9 gene on chromosome 8. This condition demonstrates dominant inheritance with paternal imprinting, which means that a mutation in the maternal gene will result in disease, but a mutation in the paternal gene will have no effect (imprinted with paternal silencing)." "" + "porokeratosis 5, disseminated superficial actinic type" "" + "primary CD59 deficiency" "" + "autosomal recessive osteopetrosis 7" "Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the TNFRS11A gene." "" + "thrombophilia due to protein C deficiency, autosomal recessive" "" + "premature ovarian failure 6" "Any primary ovarian failure in which the cause of the disease is a mutation in the FIGLA gene." "" + "attention deficit-hyperactivity disorder, susceptibility to, 5" "" + "attention deficit-hyperactivity disorder, susceptibility to, 6" "" + "chromosome 2q32-q33 deletion syndrome" "2q32q33 microdeletion syndrome is a recently described syndrome characterized by a variable phenotype involving moderate to severe intellectual deficit, significant speech delay, persistent feeding difficulties, growth retardation and dysmorphic features." "" + "SATB2 associated disorder" "A syndromic intellectual disability disorder that is characterized by significant neurodevelopmental disabilities with limited to absent speech, behavioral issues, and craniofacial anomalies. Most distinctive features are neurodevelopmental with invariably severely limited speech, cleft or high arched palate, dental anomalies (crowding, macrodontia, abnormal shape), and behavioral issues with or without bone or brain anomalies." "" + "Pseudofolliculitis barbae" "" + "hereditary spastic paraplegia 35" "Autosomal recessive spastic paraplegia type 35 is a rare form of hereditary spastic paraplegia characterized by childhood (exceptionally adolescent) onset of a complex phenotype presenting with lower limb (followed by upper limb) spasticity with hyperreflexia and extensor plantar responses, with additional manifestations including progressive dysarthria, dystonia, mild cognitive decline, extrapyramidal features, optic atrophy and seizures. White matter abnormalities and brain iron accumulation have also been observed on brain magnetic resonance imaging." "" + "hereditary spastic paraplegia 38" "A hereditary spastic paraplegia that has material basis in variation in the chromosome region 4p16-p15." "" + "thrombophilia due to protein S deficiency, autosomal dominant" "Autosomal dominant form of hereditary thrombophilia due to congenital protein S deficiency." "" + "hereditary thrombophilia due to congenital protein S deficiency" "Congenital protein S deficiency is an inherited coagulation disorder characterized by recurrent venous thrombosis symptoms due to reduced synthesis and/or activity levels of protein S." "" + "obsolete thrombotic disorder due to an acquired coagulation factors defect" "An instance of rare thrombotic disorder due to a coagulation factors defect that is acquired during the lifetime of the individual." "True" "true" + "intellectual disability, autosomal dominant 22" "Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the ZBTB18 gene." "" + "chromosome 2q31.2 deletion syndrome" "" + "Jervell and Lange-Nielsen syndrome 2" "Any Jervell and Lange-Nielsen syndrome in which the cause of the disease is a mutation in the KCNE1 gene." "" + "long QT syndrome 5" "Any long QT syndrome in which the cause of the disease is a mutation in the KCNE1 gene." "" + "thrombophilia, familial, due to decreased release of tissue plasminogen activator" "" + "Ehlers-Danlos syndrome, spondylocheirodysplastic type" "Ehlers-Danlos syndrome, spondylocheirodysplastic type is a subtype of Ehlers-Danlos syndrome characterized by skeletal dysplasia comprising platyspondyly with moderate short stature, osteopenia and widened metaphyses, in addition to hyperextensible, thin, easily bruised skin, hypermobility of small joints with tendency to contractures, prominent eyes with bluish sclerae, wrinkled palms, atrophy of the thenar muscle and tapering fingers." "" + "porokeratosis 6, disseminated superficial actinic type" "" + "inflammatory bowel disease 21" "An inflammatory bowel disease that has material basis in variation in the chromosome region 18p11." "" + "heparin cofactor 2 deficiency" "" + "major affective disorder 8" "" + "Cowden syndrome 2" "Any Cowden disease in which the cause of the disease is a mutation in the SDHB gene." "" + "schizophrenia 14" "A schizophrenia that has material basis in a mutation on chromosome 2q32.1." "" + "hypogonadotropic hypogonadism 5 with or without anosmia" "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the CHD7 gene." "" + "major affective disorder 7" "" + "major affective disorder 9" "" + "acute promyelocytic leukemia" "Acute promyelocytic leukemia (APL) is an aggressive form of acute myeloid leukemia (AML), characterized by arrest of leukocyte differentiation at the promyelocyte stage, due to a specific chromosomal translocation t(15;17) in myeloid cells. APL manifests with easy bruising, hemorrhagic diathesis and fatigue." "" + "acute myeloid leukemia with recurrent genetic anomaly" "A group of acute myeloid leukemias characterized by recurrent genetic abnormalities, mainly balanced translocations. (WHO, 2001)" "True" + "systemic lupus erythematosus, susceptibility to, 13" "" + "SRD5A3-CDG" "SRD5A3-CDG is a rare, non X-linked congenital disorder of gyclosylation due to steroid 5 alpha reductase type 3 deficiency characterized by a highly variable phenotype typically presenting with severe visual impairment, variable ocular anomalies (such as optic nerve hypoplasia/atrophy, iris and optic nerve coloboma, congenital cataract, glaucoma), intellectual disability, cerebellar abnormalities, nystagmus, hypotonia, ataxia, and/or ichthyosiform skin lesions. Other reported manifestations include retinitis pigmentosa, kyphosis, congenital heart defects, hypertrichosis and abnormal coagulation." "" + "inflammatory bowel disease 22" "An inflammatory bowel disease that has material basis in variation in the chromosome region 17q21.2." "" + "inflammatory bowel disease 23" "An inflammatory bowel disease that has material basis in variation in the chromosome region 1q32.1." "" + "sarcoidosis, susceptibility to, 2" "Any sarcoidosis in which the cause of the disease is a mutation in the BTNL2 gene." "" + "sarcoidosis, susceptibility to, 3" "" + "pontocerebellar hypoplasia type 2B" "Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the TSEN2 gene." "" + "pontocerebellar hypoplasia type 2C" "Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the TSEN34 gene." "" + "bone fragility with contractures, arterial rupture, and deafness" "A rare, genetic disease, caused by lack of lysyl hydrohylase 3 (LH3) activity, characterized by multiple tissue and organ involvement, including skeletal abnormalities (club foot, progressive scoliosis, osteopenia, pathologic fractures), ocular involvement (flat retinae, myopia, cataracts) and hair, nail and skin anomalies (coarse, abnormally distributed hair, skin blistering, reduced palmar creases, hypoplastic nails). Patients also present intrauterine growth retardation, facial dysmorphism (flat facial profile, low-set ears, shallow orbits, short and upturned nose, downturned corners of mouth) and joint flexion contractures. Growth and developmental delay, bilateral sensorineural deafness, friable diaphragm and later-onset spontaneous vascular ruptures are additional reported features." "" + "osteoarthritis susceptibility 5" "Any osteoarthritis in which the cause of the disease is a mutation in the GDF5 gene." "" + "osteoarthritis susceptibility 6" "" + "torsion dystonia 17" "A dystonia characterized by autosomal recessive inheritance of progressive dystonia, dysphonia, dysarthria and neck torticollis that has material basis in variation in the chromosome region 20p11.2-q13.12." "" + "psoriasis 10, susceptibility to" "" + "congenital factor XI deficiency" "Congenital factor XI deficiency is an inherited bleeding disorder characterized by reduced levels and activity of factor XI (FXI) resulting in moderate bleeding symptoms, usually occurring after trauma or surgery." "" + "factor XI deficiency" "A coagulation disorder characterized by the partial or complete absence of factor XI activity in the blood." "" + "narcolepsy 4, susceptibility to" "" + "alopecia, androgenetic, 3" "" + "cardiomyopathy, familial restrictive, 3" "Any familial isolated restrictive cardiomyopathy in which the cause of the disease is a mutation in the TNNT2 gene." "" + "inherited prekallikrein deficiency" "An instance of prekallikrein deficiency that is caused by an inherited modification of the individual's genome." "" + "prekallikrein deficiency" "A condition characterized by the congenital or acquired deficiency of prekallikrein. This deficiency is usually not associated with bleeding. The congenital deficiency is very rare. Acquired deficiency may occur in diffuse intravascular coagulation, infections, and sickle cell disease." "" + "autosomal dominant nonsyndromic hearing loss 27" "An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 4q12-q13.1." "" + "autosomal recessive nonsyndromic hearing loss 45" "An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 1q43-q44." "" + "epilepsy, progressive myoclonic, 1B" "Any progressive myoclonic epilepsy in which the cause of the disease is a mutation in the PRICKLE1 gene." "" + "hypomyelinating leukodystrophy 6" "Hypomyelination with atrophy of basal ganglia and cerebellum (H-ABC) is characterized by slowly progressive spasticity, extrapyramidal movement disorders (dystonia, choreoathetosis and rigidity), cerebellar ataxia, moderate to severe cognitive deficit, and anarthria/dysarthria." "" + "primary ciliary dyskinesia 9" "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAI2 gene." "" + "blindness - scoliosis - arachnodactyly syndrome" "This syndrome associates progressive visual loss with scoliosis or kyphoscoliosis and arachnodactyly of the fingers and toes." "" + "complement component 6 deficiency" "Any classic complement early component deficiency in which the cause of the disease is a mutation in the C6 gene." "" + "skeletal defects, genital hypoplasia, and intellectual disability" "" + "age-related hearing impairment 1" "" + "pseudohypoparathyroidism type 1C" "Pseudohypoparathyroidism type 1c (PHP1c) is a rare type of pseudohypoparathyroidism (PHP) characterized by resistance to parathyroid hormone (PTH) and other hormones, which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, a constellation of clinical features collectively termed Albright's hereditary osteodystrophy (AHO), but normal activity of the stimulatory protein G (Gs alpha)." "" + "pseudopseudohypoparathyroidism" "Pseudopseudohypoparathyroidism (pseudo-PHP) is a disease characterized by a constellation of clinical features collectively termed Albright hereditary osteodystrophy (AHO) but no evidence of resistance to parathyroid hormone (PTH), which is seen in other forms of pseudohypoparathyroidism (PHP)." "" + "Wilms tumor, aniridia, genitourinary anomalies, intellectual disability, and obesity syndrome" "A sub-phenotype of WAGR that includes obesity, and is associated with mutation(s) in the BDNF gene." "" + "chromosome 1q21.1 deletion syndrome" "1q21.1 microdeletion syndrome is a newly described recurrent deletion syndrome with variable clinical manifestations but without the clinical picture of thrombocytopenia - absent radius (TAR) syndrome." "" + "partial deletion of the long arm of chromosome 1" "True" + "chromosome 1q21.1 duplication syndrome" "Chromosome 1q21.1 duplication syndrome is a rare condition caused by the presence of an extra copy of a small piece of chromosome 1 in the cells of the body. Signs and symptoms can vary widely among affected individuals. Some individuals have no symptoms, while others may have features such as a large head size (macrocephaly); mild to moderate developmental delay and learning difficulties; autism or autistic-like behavior; heart problems; seizures; and/or and distinctive facial features. This condition can occur sporadically as a de novo mutation (by chance) or can be inherited in an autosomal dominant manner from a parent. Treatment depends on the signs and symptoms present in each individual." "" + "partial duplication of the long arm of chromosome 1" "" + "chromosome 2p16.1-p15 deletion syndrome" "2p15p16.1 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism." "" + "partial deletion of the short arm of chromosome 2" "" + "specific language impairment 4" "" + "primary ciliary dyskinesia 10" "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAAF2 gene." "" + "type 1 diabetes mellitus 20" "Any type 1 diabetes mellitus in which the cause of the disease is a mutation in the HNF1A gene." "" + "type 1 diabetes mellitus 21" "A type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 6q25." "" + "type 1 diabetes mellitus 22" "Any type 1 diabetes mellitus in which the cause of the disease is a mutation in the CCR5 gene." "" + "pyloric stenosis, infantile hypertrophic, 5" "" + "congenital generalized lipodystrophy type 3" "Any congenital generalized lipodystrophy in which the cause of the disease is a mutation in the CAV1 gene." "" + "Diamond-Blackfan anemia 4" "Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS17 gene." "" + "Diamond-Blackfan anemia 5" "Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPL35A gene." "" + "amelogenesis imperfecta hypomaturation type 2A2" "Any amelogenesis imperfecta in which the cause of the disease is a mutation in the MMP20 gene." "" + "chromosome 1q41-q42 deletion syndrome" "1q41q42 microdeletion syndrome is a chromosomal anomaly characterized by a severe developmental delay and/or intellectual disability, typical facial dysmorphic features, brain anomalies, seizures, cleft palate, clubfeet, nail hypoplasia and congenital heart disease." "" + "hereditary spastic paraplegia 42" "Autosomal dominant spastic paraplegia type 42 is a pure form of hereditary spastic paraplegia characterized by slowly progressive spastic paraplegia of lower extremities with an age of onset ranging from childhood to adulthood and patients presenting with spastic gait, increased tendon reflexes in lower limbs, extensor plantar response, weakness and atrophy of lower limb muscles and, in rare cases, pes cavus. No abnormalities are noted on magnetic resonance imaging." "" + "Compton-North congenital myopathy" "" + "autosomal recessive severe congenital neutropenia due to G6PC3 deficiency" "" + "focal segmental glomerulosclerosis 4, susceptibility to" "Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the APOL1 gene." "" + "myopia 16, autosomal dominant" "" + "breast-ovarian cancer, familial, susceptibility to, 2" "Any hereditary breast ovarian cancer syndrome in which the cause of the disease is a mutation in the BRCA2 gene." "" + "leukemia, chronic lymphocytic, susceptibility to, 3" "" + "leukemia, chronic lymphocytic, susceptibility to, 4" "" + "leukemia, chronic lymphocytic, susceptibility to, 5" "" + "Diamond-Blackfan anemia 6" "Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPL5 gene." "" + "Diamond-Blackfan anemia 7" "Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPL11 gene." "" + "Diamond-Blackfan anemia 8" "Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS7 gene." "" + "inflammatory bowel disease 24" "An inflammatory bowel disease that has material basis in variation in the chromosome 20q13." "" + "inflammatory bowel disease 25" "Any inflammatory bowel disease in which the cause of the disease is a mutation in the IL10RB gene." "" + "immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome" "Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome is a rare immune dysregulation disease with immunodeficiency characterized by severe, progressive infantile onset inflammatory bowel disease with pancolitis, perianal disease (ulceration, fistulae), recurrent respiratory, genitourinary and cutaneous infections, arthritis and a high risk of B-cell lymphoma." "" + "lung cancer susceptibility 3" "" + "retinitis pigmentosa 46" "Any retinitis pigmentosa in which the cause of the disease is a mutation in the IDH3B gene." "" + "chromosome 17P13.3, telomeric, duplication syndrome" "" + "amyotrophic lateral sclerosis type 11" "Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the FIG4 gene." "" + "intellectual disability, autosomal dominant 3" "Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the CDH15 gene." "" + "intellectual disability, autosomal dominant 4" "Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the KIRREL3 gene." "" + "chromosome 6pter-p24 deletion syndrome" "Distal monosomy 6p is responsible for a distinct chromosome deletion syndrome with a recognizable clinical picture including intellectual deficit, ocular abnormalities, hearing loss, and facial dysmorphism." "" + "partial deletion of the short arm of chromosome 6" "" + "aneurysm, intracranial berry, 9" "" + "aneurysm, intracranial berry, 10" "" + "colorectal cancer, susceptibility to, 8" "" + "colorectal cancer, susceptibility to, 9" "" + "colorectal cancer, susceptibility to, 10" "Any colorectal cancer in which the cause of the disease is a mutation in the POLD1 gene." "" + "colorectal cancer, susceptibility to, 11" "" + "lung cancer susceptibility 4" "" + "multiple sclerosis, susceptibility to, 2" "" + "multiple sclerosis, susceptibility to, 3" "" + "multiple sclerosis, susceptibility to, 4" "" + "psoriasis 11, susceptibility to" "" + "intellectual disability, autosomal dominant 5" "Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the SYNGAP1 gene." "" + "type 1 diabetes mellitus 23" "A type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 4q27." "" + "microvascular complications of diabetes, susceptibility to, 2" "Any microvascular complications of diabetes, susceptibility in which the cause of the disease is a mutation in the EPO gene." "" + "microvascular complications of diabetes, susceptibility to, 3" "Any microvascular complications of diabetes, susceptibility in which the cause of the disease is a mutation in the ACE gene." "" + "chromosome 15q26-qter deletion syndrome" "Distal monosomy 15q is a rare chromosomal anomaly syndrome characterized by pre- and postnatal growth restriction, developmental delay, variable degrees of intellectual disability, hand and foot anomalies (e.g. brachy-/clinodactyly, talipes equinovarus, nail hypoplasia, proximally placed digits) and mild craniofacial dysmorphism (incl. microcephaly, triangular face, broad nasal bridge, micrognathia). Neonatal lymphedema, heart malformations, aplasia cutis congenita, aortic root dilatation, and autistic spectrum disorder have also been reported." "" + "seizures, benign familial infantile, 4" "" + "microvascular complications of diabetes, susceptibility to, 4" "Any microvascular complications of diabetes, susceptibility in which the cause of the disease is a mutation in the IL1RN gene." "" + "hemolytic anemia due to adenylate kinase deficiency" "Hemolytic anemia due to adenylate kinase deficiency is a rare hemolytic anemia due to an erythrocyte nucleotide metabolism disorder characterized by moderate to severe chronic nonspherocytic hemolytic anemia that may require regular blood transfusions and/or splenectomy and may be associated with psychomotor impairment." "" + "inborn disorder of purine or pyrimidine metabolism" "" + "Usher syndrome type 1H" "An Usher syndrome type 1 that has material basis in variation in the chromosome region 15q22-q23." "" + "microvascular complications of diabetes, susceptibility to, 5" "Any microvascular complications of diabetes, susceptibility in which the cause of the disease is a mutation in the PON1 gene." "" + "microvascular complications of diabetes, susceptibility to, 6" "Any microvascular complications of diabetes, susceptibility in which the cause of the disease is a mutation in the SOD2 gene." "" + "microvascular complications of diabetes, susceptibility to, 7" "Any microvascular complications of diabetes, susceptibility in which the cause of the disease is a mutation in the HFE gene." "" + "febrile seizures, familial, 10" "" + "inflammatory bowel disease 26" "An inflammatory bowel disease that has material basis in variation in the chromosome region 12q15." "" + "autosomal dominant nonsyndromic hearing loss 59" "An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 11p14.2-q12.3." "" + "autosomal dominant nonsyndromic hearing loss 3B" "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the GJB6 gene." "" + "autosomal dominant nonsyndromic hearing loss 2B" "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the GJB3 gene." "" + "autosomal recessive nonsyndromic hearing loss 1B" "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the GJB6 gene." "" + "primary ciliary dyskinesia 11" "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the RSPH4A gene." "" + "primary ciliary dyskinesia 12" "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the RSPH9 gene." "" + "endocrine-cerebro-osteodysplasia syndrome" "Endocrine-cerebro-osteodysplasia (ECO) syndrome is characterized by various anomalies of the endocrine, cerebral, and skeletal systems resulting in neonatal mortality." "" + "hereditary spherocytosis type 4" "Any hereditary spherocytosis in which the cause of the disease is a mutation in the SLC4A1 gene." "" + "episodic ataxia type 6" "Episodic ataxia type 6 (EA6) is an exceedingly rare form of Hereditary episodic ataxia with varying degrees of ataxia and associated findings including slurred speech, headache, confusion and hemiplegia." "" + "cone-rod dystrophy 12" "Any cone-rod dystrophy in which the cause of the disease is a mutation in the PROM1 gene." "" + "PHARC syndrome" "Fiskerstrand type peripheral neuropathy is a slowly-progressive Refsum-like disorder associating signs of peripheral neuropathy with late-onset hearing loss, cataract and pigmentary retinopathy that become evident during the third decade of life." "" + "disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement" "True" + "hereditary spherocytosis type 5" "Any hereditary spherocytosis in which the cause of the disease is a mutation in the EPB42 gene." "" + "bilateral parasagittal parieto-occipital polymicrogyria" "" + "agammaglobulinemia 6, autosomal recessive" "Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the CD79B gene." "" + "hypogonadotropic hypogonadism 6 with or without anosmia" "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FGF8 gene." "" + "microcephaly 7, primary, autosomal recessive" "Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the STIL gene." "" + "Leber congenital amaurosis 13" "Any Leber congenital amaurosis in which the cause of the disease is a mutation in the RDH12 gene." "" + "Kahrizi syndrome" "An autosomal recessive disease that is characterized by mental retardation, cataracts, coloboma, kyphosis, and coarse facial features and has material basis in mutation in the SRD5A3 gene." "" + "pancreatic insufficiency-anemia-hyperostosis syndrome" "This syndrome is characterized by exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis." "" + "dyschromatosis universalis hereditaria 2" "" + "dopa-responsive dystonia due to sepiapterin reductase deficiency" "Dopa responsive dystonia (DRD) due to sepiapterin reductase deficiency (SRD) is a very rare neurometabolic disorder characterized by dystonia with diurnal fluctuations, axial hypotonia, oculogyric crises, and delays in motor and cognitive development." "" + "myopia 15, autosomal dominant" "" + "AGAT deficiency" "L-Arginine:glycine amidinotransferase (AGAT) deficiency is a very rare type of creatine deficiency sydrome characterized by global developmental delay, intellectual disability, and myopathy." "" + "creatine biosynthetic process disease" "A disease that has its basis in the disruption of creatine biosynthetic process." "" + "cholestasis-pigmentary retinopathy-cleft palate syndrome" "Cholestasis- pigmentary retinopathy- cleft palate is a syndrome of multiple congenital malformations, characterized by an association of cleft lip and palate, patchy pigmentary retinopathy (cat's paw), obstructive liver disease (cholestasis, portal hypertension etc.) and obstructive renal disease (ectopic ureteric insertion, obstruction, vesicouretral reflux and hydronephrosis). Gastrointestinal tract involvement (malrotation, gastresophageal reflux etc.) and cardiac involvement (coarctation of aorta, pulmonary artery stenosis etc) have also been reported. An overlap with Kabuki syndrome is debated." "" + "faciocardiomelic syndrome" "" + "guanidinoacetate methyltransferase deficiency" "Guanidinoacetate methyltransferase (GAMT) deficiency is a creatine deficiency syndrome characterized by global developmental delay/intellectual disability (DD/ID), prominent speech delay, autistic/hyperactive behavioral disorders, seizures, and various types of pyramidal and/or extra-pyramidal manifestations." "" + "porphyria due to ALA dehydratase deficiency" "Porphyria of doss or deficiency of delta-aminolevulinic acid dehydratase (DALAD) is an extremely rare form of acute hepatic porphyria characterized by neuro-visceral attacks without cutaneous manifestations." "" + "obsolete synesthesia" "" "true" + "cone-rod dystrophy 9" "Any cone-rod dystrophy in which the cause of the disease is a mutation in the ADAM9 gene." "" + "isolated congenital hypoglossia/aglossia" "Isolated aglossia and hypoglossia are terms covering the spectrum from partial to total absence of the tongue. These congenital malformations have been classified as part of the group of oromandibular-limb hypogenesis syndromes (OLHS)." "" + "hypoglossia/aglossia" "" + "hypotonia, seizures, and precocious puberty" "" + "EAST syndrome" "SeSAME syndrome is characterized by seizures, sensorineural deafness, ataxia, intellectual deficit, and electrolyte imbalance (hypokalemia, metabolic alkalosis, and hypomagnesemia)." "" + "channelopathy with epilepsy" "True" + "isolated growth hormone deficiency type IB" "An isolated growth hormone deficiency characterized by autosomal recessive inheritance of low but detectable levels of GH, short stature, significantly retarded bone age, and a positive response and immunologic tolerance to growth hormone therapy that has material basis in mutation in the GH1 or GHRHR genes on chromosomes 17q23.3 and 7p14.3, respectively." "" + "combined immunodeficiency due to ORAI1 deficiency" "A form of combined immunodeficiency due to Calcium release activated Ca2+ (CRAC) channel dysfunction characterized by recurrent infections, congenital myopathy, ectodermal dysplasia and anhydrosis." "" + "combined immunodeficiency due to CRAC channel dysfunction" "Combined immunodeficiency (CID) due to Ca2+ release activated Ca2+(CRAC) channel dysfunction is a form of CID characterized by recurrent infections, autoimmunity, congenital myopathy and ectodermal dysplasia. It comprises two sub-types that are due to mutations in the ORAI1 and STIM1 genes: CID due to ORAI1 deficiency and CID due to STIM1 deficiency." "" + "combined immunodeficiency due to STIM1 deficiency" "Aform of combined immunodeficiency due to Calcium release activated Ca2+(CRAC) channel dysfunction characterized by recurrent infections, autoimmunity, congenital myopathy and ectodermal dysplasia." "" + "Megarbane-Jalkh syndrome" "" + "autosomal recessive nonsyndromic hearing loss 71" "An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 8p22-p21.3." "" + "atrial septal defect 5" "Any atrial heart septal defect in which the cause of the disease is a mutation in the ACTC1 gene." "" + "inflammatory bowel disease 27" "An inflammatory bowel disease that has material basis in variation in the chromosome region 13q13.3" "" + "question mark ears, isolated" "" + "spondyloepimetaphyseal dysplasia, aggrecan type" "Spondyloepimetaphyseal dysplasia, aggrecan type is a new form of skeletal dysplasia characterized by severe short stature, facial dysmorphism and characteristic radiographic findings." "" + "Brugada syndrome 5" "Any Brugada syndrome in which the cause of the disease is a mutation in the SCN1B gene." "" + "leukocyte adhesion deficiency 3" "Leukocyte adhesion deficiency type III (LAD-III) is a form of LAD characterized by both severe bacterial infections and a severe bleeding disorder." "" + "hypotrichosis 5" "A hypotrichosis that has material basis in a mutation on chromosome 1p21.1-q21.3." "" + "keratosis follicularis spinulosa decalvans, autosomal dominant" "" + "obsolete spondyloepimetaphyseal dysplasia, Pakistani type" "" "true" + "narcolepsy 5, susceptibility to" "" + "sterile multifocal osteomyelitis with periostitis and pustulosis" "An autoinflammatory disease caused by mutations in the IL1RN gene, which encodes the IL1 receptor antagonist. It presents in infancy, and is characterized by systemic inflammation, pustular rash, bone pain, sterile osteitis, and periostitis." "" + "restless legs syndrome, susceptibility to, 7" "" + "orofacial cleft 12" "" + "chronic thromboembolic pulmonary hypertension" "Chronic thromboembolic pulmonary hypertension (CTEPH) is characterized by the persistence of thromboemboli in the form of organized tissue obstructing the pulmonary arteries. The consequence is an increase in pulmonary vascular resistance (PVR) resulting in pulmonary hypertension (PH) and progressive right heart failure." "" + "chromosome 6q24-q25 deletion syndrome" "6q25 microdeletion syndrome is a recently described syndrome characterized by developmental delay, facial dysmorphism and hearing loss." "" + "partial deletion of the long arm of chromosome 6" "Chromosome 6q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 6. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 6q deletion include developmental delay, intellectual disability, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person." "" + "subepithelial mucinous corneal dystrophy" "Subepithelial mucinous corneal dystrophy (SMCD) is a very rare form of superficial corneal dystrophy characterized by frequent recurrent corneal erosions in the first decade of life, with progressive loss of vision." "" + "posterior amorphous corneal dystrophy" "Posterior amorphous corneal dystrophy (PACD) is a very rare form of stromal corneal dystrophy characterized by irregular amorphous sheet-like opacities in the posterior corneal stroma and in Descemet membrane and mildly impaired vision." "" + "adenosine monophosphate deaminase deficiency" "Adenosine monophosphate (AMP) deaminase deficiency is a metabolic disorder for which two forms have been described. Lack of activity of the erythrocyte isoform of AMP deaminase has been described in subjects with low plasma uric acid levels without obvious clinical relevance and will not be described further. Myoadenylate deaminase deficiency is an inherited disorder of muscular energy metabolism with a lack of AMP deaminase activity in skeletal muscle. It is characterised by exercise-induced muscle pain, cramps and/or early fatigue." "" + "cerebellar ataxia type 9" "" + "dilated cardiomyopathy 1BB" "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the DSG2 gene." "" + "chromosome 5Q14.3 deletion syndrome, distal" "" + "epilepsy, idiopathic generalized, susceptibility to, 8" "Any generalised epilepsy in which the cause of the disease is a mutation in the CASR gene." "" + "cerebral palsy, spastic quadriplegic, 2" "Any spastic quadriplegia in which the cause of the disease is a mutation in the KANK1 gene." "" + "spastic quadriplegic cerebral palsy" "A type of spastic cerebral palsy characterized by increased muscle tone of all four extremities." "" + "keratosis palmoplantaris striata 2" "Any striate palmoplantar keratoderma in which the cause of the disease is a mutation in the DSP gene." "" + "orofaciodigital syndrome XI" "Orofaciodigital syndrome type 11 is an extremely rare, sporadic form of Orofaciodigital syndrome (OFDS) with only a few reported cases, and characterized by facial (blepharophimosis, bulbous nasal tip, broad nasal bridge, downslanting palpebral fissures and low set ears) and skeletal (post-axial polydactyly and fusion of vertebrae) malformations along with severe intellectual disability, deafness and congenital heart defects." "" + "Zechi-Ceide syndrome" "" + "Giacheti syndrome" "" + "CLOVES syndrome" "CLOVE syndrome is characterized by Congenital Lipomatous Overgrowth, progressive, complex and mixed truncal Vascular malformations, and Epidermal nevi." "" + "3M syndrome 2" "Any 3-M syndrome in which the cause of the disease is a mutation in the OBSL1 gene." "" + "atypical hemolytic-uremic syndrome with MCP/CD46 anomaly" "" + "atypical hemolytic-uremic syndrome with I factor anomaly" "" + "atypical hemolytic-uremic syndrome with B factor anomaly" "" + "atypical hemolytic-uremic syndrome with C3 anomaly" "" + "atypical hemolytic-uremic syndrome with thrombomodulin anomaly" "" + "mycobacterium tuberculosis, susceptibility to, 3" "" + "glycogen storage disease due to muscle beta-enolase deficiency" "Muscle beta-enolase deficiency is a glycolysis disorder reported in one patient to date and characterized clinically by exercise intolerance and myalgia due to severe enolase deficiency in muscle." "" + "glycogen storage disease due to lactate dehydrogenase M-subunit deficiency" "A condition that affects how the body breaks down sugar to use as energy in muscle cells. People withthis conditionexperience fatigue, muscle pain, and cramps during exercise (exercise intolerance). In some people,high-intensity exercise or other strenuous activity leads to the breakdown of muscle tissue (rhabdomyolysis), which can lead to myoglobinuria (rust-colored urine indicating breakdown of muscle tissue) and kidney damage. A skin rash may also develop. The severity of the signs and symptoms varies greatly among affected individuals. Lactate dehydrogenase A deficiency is caused by mutations in the LDHA gene. This condition is inherited in an autosomal recessive pattern." "" + "glycogen storage disease due to lactate dehydrogenase deficiency" "" + "hereditary spastic paraplegia 50" "Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the AP4M1 gene." "" + "AP4-related intellectual disability and spastic paraplegia" "A disorder that presents with spastic paraplegia and intellectual disability in which the cause of the disease is a mutation in the AP4B1 gene." "" + "DPM3-CDG" "DPM3-CDG is an extremely rare form of CDG syndrome characterized clinically in the single reported case by muscle weakness, waddling gait and dilated cardiomyopathy." "" + "lethal polymalformative syndrome, Boissel type" "" + "autosomal recessive cutis laxa type 2B" "Autosomal recessive cutis laxa type 2B is a rare, hereditary, developmental defect with connective tissue involvement characterized by cutis laxa of variable severity, in utero growth restriction, congenital hip dislocation and joint hyperlaxity, wrinkling of the skin, in particular the dorsum of hands and feet, and progeroid facial features. Hypotonia, developmental delay, and intellectual disability are common. In addition, cataracts, corneal clouding, wormian bones, lipodystrophy and osteopenia have been reported." "" + "autosomal recessive cutis laxa type 2" "Autosomal recessive cutis laxa, type 2 (ARCL2) appears to cover a spectrum of connective tissue disorders characterized by the association of wrinkled, redundant and sagging inelastic skin with growth and developmental delay, and skeletal anomalies. The spectrum ranges from patients with classic ARCL2 (ARCL, DebrC) type) to patients with a milder form of the disease, wrinkled skin syndrome (WSS)." "" + "retinitis pigmentosa 42" "Any retinitis pigmentosa in which the cause of the disease is a mutation in the KLHL7 gene." "" + "microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type" "Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type is a rare syndrome with cardiac malformations, characterized by prenatal-onset growth retardation (low birth weight and short stature), hypotonia, developmental delay and intellectual disability associated with microcephaly and craniofacial (low anterior hairline, hypotelorism, thick lips with carp-shaped mouth, high-arched palate, low-set ears), cardiac (conotruncal heart malformations such as tetralogy of Fallot) and skeletal (hypoplastic thumbs and first metacarpals) abnormalities." "" + "microcephaly, growth retardation, cataract, hearing loss, and unusual appearance" "" + "Stargardt macular degeneration, absent or hypoplastic corpus callosum, intellectual disability, and dysmorphic features" "" + "developmental and epileptic encephalopathy, 39" "A rare mitochondrial substrate carrier disorder characterized by severe muscular hypotonia, seizures (with or without episodic apnea) beginning in the first year of life, and arrested psychomotor development (affecting mainly motor skills). Severe spasticity with hyperreflexia has also been reported. Global cerebral hypomyelination is a characteristic imaging feature of this disease." "" + "neonatal-onset developmental and epileptic encephalopathy" "A complex neurodevelopmental disorder characterized by a neonatal onset of recurrent seizures, an abnormal neonatal electroencephalographic background with multifocal epileptiform discharges, excessive discontinuity, and/or burst-suppression patterns, and encephalopathy. Seizures may be pharmacoresistant or responsive. Developmental delays persist but vary in severity. In some individuals, subsequent evolution to other epileptic encephalopathy syndromes (e.g. West syndrome) may occur." "" + "psoriasis 12, susceptibility to" "" + "cystic leukoencephalopathy without megalencephaly" "Cystic leukoencephalopathy without megalencephaly is characterised by non-progressive leukoencephalopathy, bilateral cysts in the anterior part of the temporal lobe, cerebral white matter anomalies and severe psychomotor impairment. Less than 50 patients have been described in the literature so far. Inheritance is most likely autosomal recessive." "" + "Aicardi-Goutieres syndrome 5" "Any Aicardi-Goutieres syndrome in which the cause of the disease is a mutation in the SAMHD1 gene." "" + "autosomal recessive Parkinson disease 14" "A rare neurodegenerative disease usually presenting before the age of 30 and which is characterized by dystonia, L-dopa-responsive parkinsonism, pyramidal signs and rapid cognitive decline." "" + "myofibrillar myopathy 6" "Selcen type muscular dystrophy is characterized by progressive limb and axial muscle weakness associated with cardiomyopathy and severe respiratory insufficiency during adolescence. The disease manifests during childhood and progresses rapidly." "" + "long QT syndrome 12" "Any long QT syndrome in which the cause of the disease is a mutation in the SNTA1 gene." "" + "ventricular fibrillation, paroxysmal familial, 2" "Any ventricular fibrillation in which the cause of the disease is a mutation in the DPP6 gene." "" + "multiple synostoses syndrome 3" "Any multiple synostoses syndrome in which the cause of the disease is a mutation in the FGF9 gene." "" + "premature ovarian failure 7" "Any primary ovarian failure in which the cause of the disease is a mutation in the NR5A1 gene." "" + "46,XY sex reversal 3" "" + "cataract 34 multiple types" "Any cataract (disease) in which the cause of the disease is a mutation in the FOXE3 gene." "" + "age-related hearing impairment 2" "" + "autosomal recessive optic atrophy, OPA7 type" "" + "spermatogenic failure 7" "" + "Emery-Dreifuss muscular dystrophy 4, autosomal dominant" "Any autosomal dominant Emery-Dreifuss muscular dystrophy in which the cause of the disease is a mutation in the SYNE1 gene." "" + "autosomal dominant Emery-Dreifuss muscular dystrophy" "Autosomal dominant form of Emery-Dreifuss muscular dystrophy." "" + "Emery-Dreifuss muscular dystrophy 5, autosomal dominant" "Any autosomal dominant Emery-Dreifuss muscular dystrophy in which the cause of the disease is a mutation in the SYNE2 gene." "" + "palmoplantar keratoderma, nonepidermolytic, focal 1" "Any nonepidermolytic palmoplantar keratoderma in which the cause of the disease is a mutation in the KRT16 gene." "" + "encephalocraniocutaneous lipomatosis" "A rare neoplastic syndrome characterized by the presence of unilateral lipomas of the cranium, face and neck, and ipsilateral cerebral malformations." "" + "herpes simplex encephalitis, susceptibility to, 2" "" + "postinfectious encephalitis" "" + "attention deficit-hyperactivity disorder, susceptibility to, 7" "" + "Santos syndrome" "" + "type 1 diabetes mellitus 24" "A type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 10q23.31." "" + "primary biliary cholangitis 2" "" + "primary biliary cholangitis 3" "" + "lymphoproliferative syndrome 1" "A condition of decreased or absent presence or activity of IL2-inducible t-cell kinase. Deficiency of this protein is associated with lymphoproliferative syndrome 1, an autosomal recessive primary immunodeficiency characterized by onset in early childhood of Epstein-Barr virus (EBV)-associated immune dysregulation, manifest as lymphoma, lymphomatoid granulomatosis, hemophagocytic lymphohistiocytosis, Hodgkin disease, and/or hypogammaglobulinemia.." "" + "autosomal recessive lymphoproliferative disease" "A rare combined T and B cell immunodeficiency with a predisposition to lymphoproliferative syndrome. It is characterized by persistent symptomatic EBV-viremia and hypogammaglobulinemia variably presenting with fever, lymphadenopathy and systemic inflammatory conditions including hepatitis, pneumonia and sepsis. It may be associated with lymphoma, hemophagocytic lymphohistiocytosis, and aplastic anemia." "" + "Hirschsprung disease-ganglioneuroblastoma syndrome" "" + "neuroblastoma, susceptibility to, 3" "Any neuroblastoma in which the cause of the disease is a mutation in the ALK gene." "" + "neuroblastoma, susceptibility to, 4" "" + "neuroblastoma, susceptibility to, 5" "" + "neuroblastoma, susceptibility to, 6" "" + "bronchiectasis with or without elevated sweat chloride 2" "Any bronchiectasis in which the cause of the disease is a mutation in the SCNN1A gene." "" + "follicular lymphoma, susceptibility to, 1" "" + "follicular lymphoma" "Follicular lymphoma is a form of non-Hodgkin lymphoma characterized by a proliferation of B cells whose nodular structure of follicular architecture is preserved." "" + "schizophrenia 13" "A schizophrenia that has material basis in a mutation on chromosome 15q13." "" + "chromosome 19q13.11 deletion syndrome" "The 19q13.11 microdeletion is characterized by several major features including pre and postnatal growth retardation, slender habitus, severe postnatal feeding difficulties, microcephaly, intellectual deficit with speech disturbance, hypospadias and ectodermal dysplasia presented by scalp aplasia, thin and sparse hair, eyebrows and eyelashes, thin and dry skin and dysplasic nails." "" + "partial deletion of the long arm of chromosome 19" "" + "glycogen storage disease IXc" "A liver PhK deficiency caused by variants in the PHKG2 gene" "" + "glioma susceptibility 2" "Any malignant glioma in which the cause of the disease is a mutation in the PTEN gene." "" + "glioma susceptibility 3" "Any malignant glioma in which the cause of the disease is a mutation in the BRCA2 gene." "" + "glioma susceptibility 5" "" + "glioma susceptibility 6" "" + "glioma susceptibility 7" "" + "glioma susceptibility 8" "" + "noise induced hearing loss" "A condition in which a person loses the ability to hear due to exposure to high intensity sound." "" + "non-acquired combined pituitary hormone deficiencies without extra-pituitary malformations" "True" + "atrial fibrillation, familial, 8" "" + "basal cell carcinoma, susceptibility to, 2" "" + "basal cell carcinoma, susceptibility to, 3" "" + "epilepsy, idiopathic generalized, susceptibility to, 10" "An inherited susceptibility or predisposition to developing epilepsy, idiopathic generalized, in which the cause of the disease is a mutation in the GABRD gene." "" + "basal cell carcinoma, susceptibility to, 4" "" + "basal cell carcinoma, susceptibility to, 5" "" + "basal cell carcinoma, susceptibility to, 6" "" + "atopic dermatitis 7" "An atopic dermatitis associated with variation in the region 11q13.5." "" + "leukemia, acute lymphocytic, susceptibility to, 1" "" + "leukemia, acute lymphocytic, susceptibility to, 2" "" + "neurodegenerative syndrome due to cerebral folate transport deficiency" "" + "acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins" "Acute infantile liver failure due to mtDNA-encoded proteins synthesis defect is a very rare mitochondrial respiratory chain deficiency described in fewer than 10 infants, primarily of middle Eastern descent, and characterized clinically by transient but life-threatening liver failure with elevated liver enzymes, jaundice, vomiting, coagulopathy, hyperbilirubinemia, and lactic acidemia." "" + "bronchiectasis with or without elevated sweat chloride 3" "Any bronchiectasis in which the cause of the disease is a mutation in the SCNN1G gene." "" + "metaphyseal anadysplasia 2" "Any metaphyseal anadysplasia in which the cause of the disease is a mutation in the MMP9 gene." "" + "metaphyseal anadysplasia" "Metaphyseal anadysplasia is a very rare form of metaphyseal dysplasia characterized by short stature, rhizomelic micromelia and a mild varus deformity of the legs evident from the first months of life, that is associated with radiological features of severe metaphyseal changes (irregularities, widening and marginal blurring) in long bones, most prominent in proximal femurs, and generalized osteopenia, and that usually spontaneously resolves by the age of three years. Severe autosomal dominant and milder recessive variants have been observed." "" + "autosomal dominant nonsyndromic hearing loss 50" "An autosomal dominant nonsyndromic deafness that is characterized postlingual onset in the second decade of life with flat progressive hearing loss and has material basis in mutation in the MIRN96 gene on chromosome 7q32." "" + "RIN2 syndrome" "RIN2 syndrome, formerly known as macrocephaly, alopecia, cutis laxa and scoliosis (MACS) syndrome, is a very rare inherited connective tissue disorder characterized by macrocephaly, sparse scalp hair, soft-redundant and hyperextensible skin, joint hypermobility, and scoliosis. Patients have progressive facial coarsening with downslanted palpebral fissures, upper eyelid fullness/infraorbital folds, thick/everted vermillion, gingival overgrowth and abnormal position of the teeth. Rarer manifestations such as abnormal high-pitched voice, bronchiectasis, hypergonadotropic hypergonadism and brachydactyly have also been reported." "" + "congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome" "" + "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5" "Any progressive external ophthalmoplegia with mitochondrial DNA deletions in which the cause of the disease is a mutation in the RRM2B gene." "" + "Nijmegen breakage syndrome-like disorder" "Nijmegen breakage syndrome-like disorder is a rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by growth retardation, short stature, developmental delay, intellectual disability, craniofacial dysmorphism (i.e. severe microcephaly, sloping forehead, prominent eyes, broad nasal ridge, hypoplastic nasal septum, epicanthal folds), spontaneous chromosomal instability, cellular hypersensitivity to ionizing radiation and radioresistant DNA synthesis, without severe infections, immunodeficiency or cancer predisposition. Additional reported features include mild spasticity, slight and nonprogressive ataxia, hyperopia, multiple pigmented nevi, widely spaced nipples, and clinodactyly." "" + "autosomal recessive nonsyndromic hearing loss 77" "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the LOXHD1 gene." "" + "46,XY sex reversal 5" "" + "glaucoma 3, primary congenital, C" "" + "glaucoma 3, primary congenital, D" "" + "atrial septal defect 6" "Any atrial heart septal defect in which the cause of the disease is a mutation in the TLL1 gene." "" + "pelvic organ prolapse, susceptibility to, 2" "" + "CLAPO syndrome" "CLAPO syndrome is a newly described syndrome consisting of capillary malformation of the lower lip (C), lymphatic malformation of the face and neck (L), asymmetry of face and limbs (A) and partial or generalized overgrowth (O)." "" + "obsolete Bartter syndrome, type 4B" "" "true" + "asphyxiating thoracic dystrophy 3" "An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the DYNC2H1 gene on chromosome 11q22." "" + "short rib-polydactyly syndrome, Verma-Naumoff type" "Short rib-polydactyly syndrome, Verma-Naumoff type is a short rib-polydactyly syndrome, characterized by short limb dwarfism, short ribs with thoracic dysplasia, postaxial polydactyly and protuberant abdomen. Associated multiple malformations include cardiovascular defects, renal agenesis /hypoplasia, anormal clocal development (ambiguous genitalia, anal atresia) and cerebellar hypoplasia. Short rib-polydactyly syndrome, Verma-Naumoff type follows an autosomal recessive mode of transmission. The disease is usually fatal in the perinatal period." "" + "familial juvenile hyperuricemic nephropathy type 2" "Familial juvenile hyperuricemic nephropathy type 2 is a rare autosomal dominantly inherited disease of childhood characterized by hypoproliferative anemia, hyperuricemia and slowly progressing kidney failure due to dysregulation of the renin-angiotensin system (RAS)." "" + "cone dystrophy 4" "Any cone dystrophy in which the cause of the disease is a mutation in the PDE6C gene." "" + "isolated microphthalmia 4" "Any isolated microphthalmia in which the cause of the disease is a mutation in the GDF6 gene." "" + "polycystic kidney disease 2" "Autosomal dominant polycystic kidney disease caused by a mutation in PKD2." "" + "hereditary spastic paraplegia 36" "Autosomal dominant spastic paraplegia type 36 (SPG36) is a complex form of hereditary spastic paraplegia, characterized by an onset in childhood or adulthood of progressive spastic paraplegia (with spastic gait, spasticity, lower limb weakness, pes cavus and urinary urgency) associated with the additional manifestation of peripheral sensorimotor neuropathy." "" + "melanoma, cutaneous malignant, susceptibility to, 5" "" + "glaucoma 1, open angle, O" "Any open-angle glaucoma in which the cause of the disease is a mutation in the NTF4 gene." "" + "familial hemophagocytic lymphohistiocytosis 5" "Any genetic hemophagocytic lymphohistiocytosis in which the cause of the disease is a mutation in the STXBP2 gene." "" + "hereditary hypotrichosis with recurrent skin vesicles" "Hereditary hypotrichosis with recurrent skin vesicles is a very rare inherited hair loss disorder described in a family and characterized by sparse, fragile or absent hair on the scalp, eyebrows, eyelashes, axillae and rest of the body, associated with vesicle formation on various parts of the scalp and body which regularly burst and release watery fluid." "" + "choroidal dystrophy, central areolar 2" "Any central areolar choroidal dystrophy in which the cause of the disease is a mutation in the PRPH2 gene." "" + "vertigo, benign recurrent, 2" "" + "neutropenia, severe congenital, 2, autosomal dominant" "Any autosomal dominant severe congenital neutropenia in which the cause of the disease is a mutation in the GFI1 gene." "" + "candidiasis, familial, 4" "Any familial chronic mucocutaneous candidiasis in which the cause of the disease is a mutation in the CLEC7A gene." "" + "autosomal dominant macrothrombocytopenia TUBB1-related" "Any autosomal dominant macrothrombocytopenia in which the cause of the disease is a mutation in the TUBB1 gene." "" + "autosomal dominant macrothrombocytopenia" "This syndrome is characterized by congenital thrombocytopenia associated with the presence of large platelets." "" + "neuropathy, hereditary sensory and autonomic, type 2B" "Any hereditary sensory and autonomic neuropathy type 2 in which the cause of the disease is a mutation in the RETREG1 gene." "" + "hereditary sensory and autonomic neuropathy type 2" "Hereditary sensory and autonomic neuropathy, type 2 (HSAN2) is an inherited disorder characterized by profound and universal sensory loss involving large and small fiber nerves, and marked hypotonia." "" + "hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency" "" + "antithrombin III deficiency" "A rare disorder characterized by the presence of low levels of antithrombin III which prohibits the formation of blood clots. It may be inherited, usually in an autosomal dominant pattern, or acquired. It may lead to venous thrombosis and pulmonary embolism." "" + "Brugada syndrome 6" "Any Brugada syndrome in which the cause of the disease is a mutation in the KCNE3 gene." "" + "Brugada syndrome 7" "Any Brugada syndrome in which the cause of the disease is a mutation in the SCN3B gene." "" + "dilated cardiomyopathy 1CC" "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the NEXN gene." "" + "Brugada syndrome 8" "Any Brugada syndrome in which the cause of the disease is a mutation in the HCN4 gene." "" + "hydrops fetalis, nonimmune, with gracile bones and dysmorphic features" "" + "parkinsonism-dystonia, infantile" "Infantile dystonia-parkinsonism (IPD) is an extremely rare inherited neurological syndrome that presents in early infancy with hypokinetic parkinsonism and dystonia and that can be fatal." "" + "choroidal dystrophy, central areolar, 3" "" + "systemic lupus erythematosus, susceptibility to, 14" "" + "inflammatory bowel disease 28" "Any inflammatory bowel disease in which the cause of the disease is a mutation in the IL10RA gene." "" + "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2" "An autosomal recessive muscular dystrophy caused by mutations in the POMT2 gene. It is associated with characteristic brain and eye malformations and profound mental retardation." "" + "myopathy caused by variation in POMT2" "Any myopathy in which the cause of the disease is a variation in the POMT2 gene." "" + "muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3" "" + "congenital muscular dystrophy with cerebellar involvement" "" + "muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4" "" + "congenital muscular dystrophy without intellectual disability" "" + "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5" "" + "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6" "An autosomal recessive muscular dystrophy caused by mutations in the LARGE gene. It is associated with characteristic brain and eye malformations, profound mental retardation, and death usually in the first years of life." "" + "muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1" "" + "muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2" "An autosomal recessive inherited congenital muscular dystrophy caused by mutations in the POMT2 gene. It is characterized by mental retardation and mild structural brain abnormalities resulting from defective glycosylation of alpha-dystroglycan." "" + "autosomal recessive limb-girdle muscular dystrophy type 2O" "Autosomal recessive limb-girdle muscular dystrophy type 2O (LGMD2O) is a form of limb-girdle muscular dystrophy characterized by an onset in childhood or adolescence of rapidly progressive proximal limb muscle weakness (particularly affecting the neck, hip girdle, and shoulder abductors), hypertrophy in the calves and quadriceps, ankle contractures, and myopia." "" + "autosomal recessive limb-girdle muscular dystrophy type 2N" "Autosomal recessive limb-girdle muscular dystrophy type 2N (LGMD2N) is a form of limb-girdle muscular dystrophy characterized by proximal weakness (manifesting as slowness in running) presenting in infancy, along with calf hypertrophy, mild lordosis, scapular winging and normal intelligence or mild intellectual disability." "" + "nephronophthisis-like nephropathy 1" "Any nephronophthisis in which the cause of the disease is a mutation in the XPNPEP3 gene." "" + "beta-ureidopropionase deficiency" "Beta-ureidopropionase deficiency is a very rare pyrimidine metabolism disorder described in fewer than 10 patients to date with an extremely wide clinical picture ranging from asymptomatic cases to neurological (epilepsy, autism) and developmental disorders (urogenital, colorectal)." "" + "hereditary spastic paraplegia 45" "Autosomal recessive spastic paraplegia type 45 is a rare, pure or complex form of hereditary spastic paraplegia characterized by onset in infancy of progressive lower limb spasticity, abnormal gait, increased deep tendon reflexes and extensor plantar responses, that may be associated with intellectual disability. Additional signs, such as contractures in the lower limbs, amyotrophy, clubfoot and optic atrophy, have also been reported." "" + "GABA aminotransferase deficiency" "Gamma-aminobutyric acid transaminase (GABA-T) deficiency is an extremely rare disorder of GABA metabolism characterized by a severe neonatal-infantile epileptic encephalopathy (manifesting with symptoms such as seizures, hypotonia, hyperreflexia and developmental delay) and growth acceleration." "" + "disorder of beta and omega amino acid metabolism" "" + "parkinson disease 16" "" + "dilated cardiomyopathy 1DD" "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the RBM20 gene." "" + "chromosome 5p13 duplication syndrome" "5p13 microduplication syndrome is a rare partial autosomal trisomy/tetrasomy characterized by global developmental delay, intellectual disability, autistic behavior, muscular hypotonia, macrocephaly and facial dysmorphism (frontal bossing, short palpebral fissures, low set, dysplastic ears, short or shallow philtrum, high arched or narrow palate, micrognathia). Other associated clinical features include sleep disturbances, seizures, aplasia/hypoplasia of the corpus callosum, skeletal abnormalities (large hands and feet, long fingers and toes, talipes)." "" + "partial trisomy/tetrasomy of the short arm of chromosome 5" "" + "cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies" "A autosomal recessive cutis laxa type I that has material basis in homozygous or compound heterozygous mutation in the LTBP4 gene on chromosome 19q13" "" + "purine nucleoside phosphorylase deficiency" "Purine nucleoside phosphorylase (PNP) deficiency is a disorder of purine metabolism characterized by progressive immunodeficiency leading to recurrent and opportunistic infections, autoimmunity and malignancy as well as neurologic manifestations." "" + "polymicrogyria with optic nerve hypoplasia" "A rare genetic syndrome with central nervous system malformations characterized by severe developmental delay, neonatal hypotonia, seizures, optic nerve hypoplasia and distinct central nervous system malformations including extensive bilateral polymicrogyria, dysplastic or absent corpus callosum and malformed brainstem with loss of demarcation of the pontomedullary junction." "" + "intellectual disability, autosomal recessive 13" "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the TRAPPC9 gene." "" + "primary ciliary dyskinesia 13" "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAAF1 gene." "" + "retinitis pigmentosa 50" "Any retinitis pigmentosa in which the cause of the disease is a mutation in the BEST1 gene." "" + "ichthyosis-short stature-brachydactyly-microspherophakia syndrome" "" + "congenital muscular dystrophy due to integrin alpha-7 deficiency" "Congenital muscular dystrophy with integrin alpha-7 deficiency is a rare, genetic, congenital muscular dystrophy due to extracellular matrix protein anomaly characterized by early motor development delay and muscle weakness with mild elevation of serum creatine kinase, that may be followed by progressive disease course with predominantly proximal muscle weakness and atrophy, motor development regress, scoliosis and respiratory insufficiency." "" + "qualitative or quantitative defects of integrin alpha-7" "" + "congenital muscular dystrophy due to LMNA mutation" "Congenital muscular dystrophy due to LMNA mutation is a rare congenital muscular dystrophy characterized by prominent axial hypotonia, dropped head syndrome, predominantly proximal muscle weakness in upper limbs/distal in lower limbs (with absent, poor or lost motor development), joint contractures (initially distal, later proximal), spine rigidity, and early respiratory insufficiency, in the presence of moderately elevated serum creatine kinase. Cardiac arrhythmias and sudden death have been also reported." "" + "hereditary spastic paraplegia 44" "A very rare, complex form of hereditary spastic paraplegia characterized by a late-onset, slowly progressive spastic paraplegia associated with mild ataxia and dysarthria, upper extremity involvement (i.e. loss of finger dexterity, dysmetria), and mild cognitive impairment, without the presence of nystagmus. A hypomyelinating leukodystrophy and thin corpus callosum is observed in all cases and psychomotor development is normal or near normal. SPG44 is caused by mutations in the GJC2 gene (1q41-q42) encoding the gap junction gamma-2 protein." "" + "asthma-related traits, susceptibility to, 8" "" + "amelogenesis imperfecta hypomaturation type 2A3" "Any amelogenesis imperfecta in which the cause of the disease is a mutation in the WDR72 gene." "" + "chromosome 17p13.3 duplication syndrome" "17p13.3 microduplication syndrome is characterized by variable psychomotor delay and dysmorphic features." "" + "congenital stationary night blindness 1C" "Any congenital stationary night blindness in which the cause of the disease is a mutation in the TRPM1 gene." "" + "congenital diarrhea 5 with tufting enteropathy" "Congenital Tufting Enteropathy is a rare congenital enteropathy presenting with early-onset severe and intractable diarrhea that leads to irreversible intestinal failure." "" + "leprosy, susceptibility to, 5" "Any leprosy in which the cause of the disease is a mutation in the TLR1 gene." "" + "Noonan syndrome 6" "Any Noonan syndrome in which the cause of the disease is a mutation in the NRAS gene." "" + "factor XIII, A subunit, deficiency of" "" + "congenital factor XIII deficiency" "Congenital factor XIII deficiency is an inherited bleeding disorder due to reduced levels and activity of factor XIII (FXIII) and characterized by hemorrhagic diathesis frequently associated with spontaneous abortions and defective wound healing. Factor XIII deficiency is one of the most rare coagulation factor deficiencies." "" + "cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3" "Any dysequilibrium syndrome in which the cause of the disease is a mutation in the CA8 gene." "" + "trichotillomania" "A disorder characterized by repetitive pulling out of one's hair resulting in noticeable hair loss; the individual experiences a rising subjective sense of tension before pulling out the hair and a sense of gratification or relief when pulling out the hair." "" + "factor XIII, b subunit, deficiency of" "" + "focal segmental glomerulosclerosis 5" "Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the INF2 gene." "" + "spondyloarthropathy, susceptibility to, 3" "" + "thyrotoxic periodic paralysis, susceptibility to, 2" "Any thyrotoxic periodic paralysis in which the cause of the disease is a mutation in the KCNJ18 gene." "" + "Pseudopili annulati" "" + "hypertrophic cardiomyopathy 13" "Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the TNNC1 gene." "" + "colorectal cancer, hereditary nonpolyposis, type 8" "Any hereditary nonpolyposis colon cancer in which the cause of the disease is a mutation in the EPCAM gene." "" + "hypertrophic cardiomyopathy 14" "Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the MYH6 gene." "" + "dilated cardiomyopathy 1EE" "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the MYH6 gene." "" + "tuberous sclerosis 2" "Tuberous sclerosis mapped to chromosome 16p13.3 (TSC2 gene)." "" + "hypertrophic cardiomyopathy 15" "Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the VCL gene." "" + "Waardenburg syndrome type 4B" "A subtype of Waardenburg syndrome type 4 (Waardenburg-Shah syndrome) caused by mutations in EDN3." "" + "Waardenburg syndrome type 4C" "A subtype of Waardenburg syndrome type 4 (Waardenburg-Shah syndrome) caused by mutations in SOX10." "" + "corneal dystrophy, Fuchs endothelial, 3" "Any Fuchs' endothelial dystrophy in which the cause of the disease is a mutation in the TCF4 gene." "" + "corneal dystrophy, Fuchs endothelial, 4" "Any Fuchs' endothelial dystrophy in which the cause of the disease is a mutation in the SLC4A11 gene." "" + "corneal dystrophy, fuchs endothelial, 5" "" + "corneal dystrophy, Fuchs endothelial, 6" "Any Fuchs' endothelial dystrophy in which the cause of the disease is a mutation in the ZEB1 gene." "" + "corneal dystrophy, fuchs endothelial, 7" "" + "cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome" "" + "disorder of manganese transport" "" + "autosomal recessive nonsyndromic hearing loss 25" "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the GRXCR1 gene." "" + "dilated cardiomyopathy 1FF" "A dilated cardiomyopathy that has material basis in mutation in the TNNI3 gene on chromosome 19q13.42." "" + "Charcot-Marie-Tooth disease axonal type 2N" "Autosomal dominant Charcot-Marie-Tooth disease type 2N (CMT2N) is a mild form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by distal legs sensory loss and weakness that can be asymmetric. Tendon reflexes are reduced in the knees and absent in ankles. Progression is slow." "" + "hearing loss, cisplatin-induced, susceptibility to" "" + "bile acid malabsorption, primary" "" + "autosomal recessive nonsyndromic hearing loss 79" "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the TPRN gene." "" + "Diamond-Blackfan anemia 9" "Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS10 gene." "" + "Diamond-Blackfan anemia 10" "Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS26 gene." "" + "exudative vitreoretinopathy 5" "Any exudative vitreoretinopathy in which the cause of the disease is a mutation in the TSPAN12 gene." "" + "hypophosphatemic rickets, autosomal recessive, 2" "Any autosomal recessive hypophosphatemic rickets in which the cause of the disease is a mutation in the ENPP1 gene." "" + "hemochromatosis type 2B" "Any hemochromatosis type 2 in which the cause of the disease is a mutation in the HAMP gene." "" + "Miyoshi muscular dystrophy 2" "" + "Miyoshi muscular dystrophy 3" "" + "autosomal recessive spondylometaphyseal dysplasia, Megarbane type" "Any spondylodysplastic dysplasia in which the cause of the disease is a mutation in the PAM16 gene." "" + "rhabdoid tumor predisposition syndrome 2" "Any familial rhabdoid tumor in which the cause of the disease is a mutation in the SMARCA4 gene." "" + "atypical teratoid rhabdoid tumor" "Atypical teratoid rhabdoid tumor (ATRT) is a highly malignant central nervous system (CNS) rhabdoid tumor (RT) found almost exclusively in children." "" + "congenital generalized lipodystrophy type 4" "Any congenital generalized lipodystrophy in which the cause of the disease is a mutation in the CAVIN1 gene." "" + "combined immunodeficiency with faciooculoskeletal anomalies" "Combined immunodeficiency with faciooculoskeletal anomalies is an extremely rare combined immunodeficiency disorder characterized by primary immunodeficiency manifesting with repeated bacterial, viral and fungal infections, in association with neurological manifestations (hypotonia, cerebellar ataxia, myoclonic seizures), developmental delay, optic atrophy, facial dysmorphism (high forehead, hypoplastic supraorbital ridges, palpebral edema, hypertelorism, flat nasal bridge, broad nasal root and tip, anteverted nares, thin lower lip overlapped by upper lip, square chin) and skeletal anomalies (short metacarpals/metatarsals with cone-shaped epiphyses, osteopenia)." "" + "congenital plasminogen activator inhibitor type 1 deficiency" "Congenital plasminogen activator inhibitor type 1 (PAI-1) deficiency is a rare genetic bleeding disorder characterized by premature lysis of hemostatic clots and a moderate bleeding tendency." "" + "spondylo-megaepiphyseal-metaphyseal dysplasia" "" + "hot water reflex epilepsy" "Hot water reflex epilepsy is a rare neurologic disease characterized by the onset of generalized or focal seizures following immersion of the head in hot water, or with hot water being poured over the head. Primary generalized tonic-clonic seizures have been reported in rare cases." "" + "inherited reflex epilepsy" "An instance of reflex epilepsy that is caused by an inherited modification of the individual's genome." "" + "epilepsy, hot water, 2" "" + "Leber congenital amaurosis 14" "Any Leber congenital amaurosis in which the cause of the disease is a mutation in the LRAT gene." "" + "brachydactylous dwarfism, Mseleni type" "Mseleni joint disease (MJD) is a rare and crippling chondrodysplasia, reported mainly in the Maputaland region in northern Kwazulu Natal, South Africa, characterized by a bilateral and uniform arthropathy of the joints that primarily and most severely affects the hip but that can also affect many other joints (i.e. knees, ankles, wrists, shoulders, elbows), and that manifests with pain and stiffness that progressively limits joint movement, eventually compromising a patient's ability to walk. Severe short staure and brachydactyly have been reported in a few patients with MJD." "" + "spondyloepimetaphyseal dysplasia, Handigodu type" "Spondyloepimetaphyseal dysplasia, Handigodu type is a rare, genetic, primary bone dysplasia characterized by three distinct phenotypes, namely: 1) patients of average height with painful, osteoarthritic changes of the hip joints and no spinal abnormalities, 2) short-statured patients with predominantly truncal shortening, arm span exceeding height, dyspalstic changes of hips and varying degrees of platyspondyly, and 3) patients with dwarfism, various associated skeletal abnormalities (particularly of the knees and hands) and severe epiphyseal dysplasia (of hips, knees, hands, wrists) associated with significant platyspondyly. Most patients cannot walk long distances, and many have decreased joint spaces and sclerotic and cystic changes on imaging." "" + "hypokalemic periodic paralysis, type 2" "" + "pancreatic cancer, susceptibility to, 2" "Any familial pancreatic carcinoma in which the cause of the disease is a mutation in the BRCA2 gene." "" + "familial pancreatic carcinoma" "Familial pancreatic carcinoma is defined by the presence of pancreatic cancer (PC) in two or more first-degree relatives." "" + "pancreatic cancer, susceptibility to, 3" "Any familial pancreatic carcinoma in which the cause of the disease is a mutation in the PALB2 gene." "" + "susceptibility to mononeuropathy of the median nerve, mild" "" + "chromosome 17q23.1-q23.2 deletion syndrome" "17q23.1q23.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay, microcephaly, short stature, heart defects and limb abnormalities." "" + "partial deletion of the long arm of chromosome 17" "" + "hereditary spastic paraplegia 41" "Autosomal dominant spastic paraplegia type 41 is a pure form of hereditary spastic paraplegia characterized by onset in adolescence or early adulthood of slowly progressive spastic paraplegia, proximal muscle weakness of the lower extremities and small hand muscles, hyperreflexia, spastic gait and mild urinary compromise." "" + "maturity-onset diabetes of the young type 10" "Any maturity-onset diabetes of the young in which the cause of the disease is a mutation in the INS gene." "" + "spinocerebellar ataxia type 30" "Spinocerebellar ataxia type 30 (SCA30) is a very rare subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by a slowly progressive and relatively pure ataxia." "" + "maturity-onset diabetes of the young type 11" "Any maturity-onset diabetes of the young in which the cause of the disease is a mutation in the BLK gene." "" + "neuronopathy, distal hereditary motor, type 2C" "Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the HSPB3 gene." "" + "brachydactyly type E2" "Any brachydactyly type E in which the cause of the disease is a mutation in the PTHLH gene." "" + "syndromic multisystem autoimmune disease due to ITCH deficiency" "" + "fatty liver disease, nonalcoholic, susceptibility to, 2" "" + "Fanconi renotubular syndrome 2" "Any Fanconi syndrome in which the cause of the disease is a mutation in the SLC34A1 gene." "" + "Fanconi anemia complementation group O" "Any Fanconi anemia in which the cause of the disease is a mutation in the RAD51C gene." "" + "autosomal recessive nonsyndromic hearing loss 84A" "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the PTPRQ gene." "" + "autosomal recessive nonsyndromic hearing loss 85" "An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 17p12-q11.2." "" + "Birbeck granule deficiency" "" + "Warsaw breakage syndrome" "A syndrome mainly characterized by severe growth retardation and microcephaly. It is a new form of cohesinopathy showing defects in sister chromatid cohesion and hypersensitivity to chemicals that induce replication stress, thus combining distinct cytogenetic features seen in Roberts syndrome and Fanconi anemia, respectively. It has material basis in homozygous or compound heterozygous mutation in the DDX11 gene on chromosome 12p11." "" + "breast-ovarian cancer, familial, susceptibility to, 3" "Any hereditary breast ovarian cancer syndrome in which the cause of the disease is a mutation in the RAD51C gene." "" + "microcephaly, seizures, and developmental delay" "" + "arthrogryposis, renal dysfunction, and cholestasis 2" "Any arthrogryposis-renal dysfunction-cholestasis syndrome in which the cause of the disease is a mutation in the VIPAS39 gene." "" + "chromosome 15q24 deletion syndrome" "15q24 microdeletion syndrome is a rare chromosomal anomaly characterized cytogenetically by a 1.7-6.1 Mb deletion in chromosome 15q24 and clinically by pre- and post-natal growth retardation, intellectual disability, distinct facial features, and genital, skeletal, and digital anomalies." "" + "SIN3A-related intellectual disability syndrome" "" + "leprosy, susceptibility to, 6" "" + "autism, susceptibility to, 16" "" + "Oguchi disease-2" "Any Oguchi disease in which the cause of the disease is a mutation in the GRK1 gene." "" + "esophagitis, eosinophilic, 2" "" + "dilated cardiomyopathy 1R" "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the ACTC1 gene." "" + "dilated cardiomyopathy 1S" "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the MYH7 gene." "" + "retinitis pigmentosa 54" "Any retinitis pigmentosa in which the cause of the disease is a mutation in the PCARE gene." "" + "amyotrophic lateral sclerosis type 12" "Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the OPTN gene." "" + "autism, susceptibility to, 17" "" + "intellectual disability, autosomal dominant 20" "Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the MEF2C gene." "" + "distal 16p11.2 microdeletion syndrome" "Distal 16p11.2 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the short arm of chromosome 16 with a highly variable phenotype typically characterized by developmental delay, mild intellectual disability and autism spectrum disorder. Macrocephaly (apparent by 2 years of age), structural brain malformations, epilepsy, vertebral anomalies and obesity are frequently associated." "" + "frontonasal dysplasia with alopecia and genital anomaly" "Frontonasal dysplasia with alopecia and genital anomaly is a new phenotype of frontonasal dysplasia associated with total alopecia and hypogonadism." "" + "autosomal recessive nonsyndromic hearing loss 91" "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the SERPINB6 gene." "" + "Rett syndrome, congenital variant" "" + "FOXG1 disorder" "A monogenic disease that has material basis in mutation in the FOXG1 gene." "" + "frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome" "" + "chromosome 14q11-q22 deletion syndrome" "14q11.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay, hypotonia and facial dysmorphism." "" + "chromosome 16p13.3 duplication syndrome" "16p13.3 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from a partial duplication of the short arm of chromosome 16 and manifesting with a variable phenotype which is mostly characterized by: mild to moderate intellectual deficit and developmental delay (particularly speech), normal growth, short, proximally implanted thumbs and other hand and feet malformations (such as camptodactyly, syndactyly, club feet), mild arthrogryposis and characteristic facies (upslanting, narrow palpebral fissures, hypertelorism, mid face hypoplasia, bulbous nasal tip and low set ears). Other reported manifestations include cryptorchidism, inguinal hernia and behavioural problems." "" + "retinitis pigmentosa 51" "Any retinitis pigmentosa in which the cause of the disease is a mutation in the TTC8 gene." "" + "hemolytic anemia due to glucophosphate isomerase deficiency" "Glucosephosphate isomerase (GPI) deficiency is an erythroenzymopathy characterized by chronic nonspherocytic hemolytic anemia." "" + "Reynolds syndrome" "Reynolds syndrome (RS) is an autoimmune disorder characterized by the association of primary biliary cirrhosis (PBC) with limited cutaneous systemic sclerosis (lcSSc)." "" + "developmental and epileptic encephalopathy, 5" "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SPTAN1 gene." "" + "lymphatic malformation 3" "Any hereditary lymphedema in which the cause of the disease is a mutation in the GJC2 gene." "" + "long QT syndrome 13" "Any long QT syndrome in which the cause of the disease is a mutation in the KCNJ5 gene." "" + "COG4-CDG" "COG4-CDG is an extremely rare form of CDG syndrome characterized clinically in the single reported case to date by seizures, some dysmorphic features, axial hyponia, slight peripheral hypertonia and hyperreflexia." "" + "alpha 1-antitrypsin deficiency" "Alpha-1-antitrypsin deficiency is a hereditary disease that develops in adulthood and is characterized by chronic liver disorders (cirrhosis), respiratory disorders (emphysema), and rarely panniculitis." "" + "immunodeficiency, common variable, 3" "" + "immunodeficiency, common variable, 4" "" + "immunodeficiency, common variable, 5" "Any common variable immunodeficiency in which the cause of the disease is a mutation in the MS4A1 gene." "" + "immunodeficiency, common variable, 6" "Any common variable immunodeficiency in which the cause of the disease is a mutation in the CD81 gene." "" + "agammaglobulinemia 2, autosomal recessive" "Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the IGLL1 gene." "" + "agammaglobulinemia 3, autosomal recessive" "Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the CD79A gene." "" + "agammaglobulinemia 4, autosomal recessive" "Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the BLNK gene." "" + "agammaglobulinemia 5, autosomal dominant" "Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the LRRC8A gene." "" + "glycogen storage disease XV" "Glycogen storage disease type 15 is an extremely rare genetic glycogen storage disease reported in one patient to date. Clinical signs included muscle weakness, cardiac arrhythmia associated with accumulation of abnormal storage material in the heart and glycogen depletion in skeletal muscle." "" + "chromosome 4q21 deletion syndrome" "The 4q21 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, progressive growth restriction, severe intellectual deficit and absent or severely delayed speech." "" + "partial deletion of the long arm of chromosome 4" "Chromosome 4q deletion is a chromosome abnormality that affects many different parts of the body. People with this condition are missing genetic material located on the long arm (q) of chromosome 4 in each cell. The severity of the condition and the associated signs and symptoms vary based on the size and location of the deletion and which genes are involved. Common features shared by many people with this deletion includedistinctive craniofacial features, skeletal abnormalities, heart defects, intellectual disability, developmental delay, and short stature. Most cases are not inherited, although affectedpeople can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person." "" + "isolated microphthalmia 6" "Any isolated microphthalmia in which the cause of the disease is a mutation in the PRSS56 gene." "" + "atopic dermatitis 8" "An atopic dermatitis associated with variation in the region 4q22.1." "" + "atopic dermatitis 9" "An atopic dermatitis associated with variation in the region 3p24." "" + "myeloid neoplasm associated with FGFR1 rearrangement" "Hematologic neoplasms characterized by the rearrangement of the FGFR1 gene, resulting in translocations with an 8p11 breakpoint. Patients present with a myeloproliferative neoplasm, acute myeloid leukemia, lymphoblastic lymphoma/leukemia of T or B-cell lineage, or acute leukemia of mixed phenotype." "" + "autosomal dominant limb-girdle muscular dystrophy type 1H" "Autosomal dominant limb-girdle muscular dystrophy type 1H (LGMD1H) is a subtype of autosomal dominant limb-girdle muscular dystrophy characterized by slowly progressive proximal muscular weakness initially affecting the lower limbs (and later involving the upper limbs), hypotrophy of upper and lower limb-girdle muscles, hyporeflexia, calf hypertrophy, and increased serum creatine kinase. There is no involvement of oculo-facial-bulbar muscles and cardiac muscle." "" + "chromosome 17q21.31 duplication syndrome" "The newly described 17q21.31 microduplication syndrome is associated with a broad clinical spectrum, of which behavioral disorders and poor social interaction seem to be the most consistent." "" + "partial duplication of the long arm of chromosome 17" "" + "chromosome 6q11-q14 deletion syndrome" "" + "commissural facial cleft" "Greatly exaggerated width of the mouth, resulting from failure of union of the maxillary and mandibular processes, with extension of the oral orifice toward the ear. The defect may be unilateral or bilateral. (Dorland, 27th ed)" "" + "lateral facial cleft" "" + "aromatase deficiency" "Aromatase deficiency disrupts the synthesis of estradiol, resulting in hirsutism of mothers during gestation of an affected child; pseudohermaphroditism and virilization in women; and tall stature, osteoporosis and obesity in men." "" + "46,XX disorder of sex development induced by fetoplacental androgens excess" "" + "nephronophthisis 11" "A nephronophthisis that has material basis in homozygous or compound heterozygous mutation in the TMEM67 gene on chromosome 8q22.1." "" + "Senior-Boichis syndrome" "Boichis syndrome consists of the association of congenital nephronophthisis leading to renal failure, and hepatic fibrosis. It has been described in five members of one family, two of whom died from renal failure. The association of Boichis syndrome with tapetoretinal degeneration and intellectual deficit has also been reported in one family: the so-called Senior-Boichis syndrome could be in fact the same entity, and was later reported in a 12 year-old child." "" + "autoimmune disease, susceptibility to, 6" "Any autoimmune disease in which the cause of the disease is a mutation in the SIAE gene." "" + "von Willebrand disease 2" "Type 2 von Willebrand disease (type 2 VWD) is a form of VWD characterized by a bleeding disorder associated with a qualitative deficiency and functional anomalies of the Willebrand factor (von Willebrand factor; VWF)." "" + "autosomal dominant nonsyndromic hearing loss 51" "An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the fourth decade of life with high frequency progressive hearing loss and has material basis in a 269-kb duplication of chromosome 9q21.11 involving the TJP2 and FAM189A2 genes." "" + "combined oxidative phosphorylation defect type 7" "Combined oxidative phosphorylation defect type 7 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by a variable phenotype that includes onset in infancy or early childhood of failure to thrive and psychomotor regression (after initial normal development), as well as ocular manifestations (such as ptosis, nystagmus, optic atrophy, ophthalmoplegia and reduced vision). Additional manifestations include bulbar paresis with facial weakness, hypotonia, difficulty chewing, dysphagia, mild dysarthria, ataxia, global muscle atrophy, and areflexia. It has a relatively slow disease progression with patients often living into the third decade of life." "" + "c12orf65-related combined oxidative phosphorylation defect" "" + "myopathy, lactic acidosis, and sideroblastic anemia 2" "Any mitochondrial myopathy and sideroblastic anemia in which the cause of the disease is a mutation in the YARS2 gene." "" + "CBL-related disorder" "CBL-related disorder is a genetic condition caused by pathogenic variants in the Cbl ubiquitin ligase gene, (CBL; HGNC:1541). Due to the proposed mechanism indicating the CBL gene's relationship to the RAS-MAPK pathway and the phenotypic presentation similar to that of the RASopathies, CBL-related disorder should be considered a RASopathy disorder. Though there is a wide spectrum of phenotypic variability, broadly, patients with CBL-related disorder have presented with developmental delay, intellectual disability, neurodevelopmental alterations, prenatal lymphatic anomalies, cardiac malformations as well as vascular anomalies particularly affecting the brain (e.g. Moya-moya arteriopathies), craniofacial features indicative of a RASopathy, hypotonia, feeding difficulties, edema of the legs, musculoskeletal and respiratory thorax abnormalities, ectodermal features including cafe-au-lait spots, immunological and hematological disorders and susceptibility to tumors diagnosed as juvenile myelomonocytic leukemia (JMML) that is usually self-remitting. Note tumor risk beyond JMML has not yet been thoroughly assessed. Due to the clinical presentation of a broad spectrum of these and other phenotypes in patients with variants in CBL, these conditions are currently defined by experts in reference to the causal gene, CBL." "" + "chromosome 2p12-p11.2 deletion syndrome" "" + "congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency" "Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency is a unique form of congenital adrenal hyperplasia (CAH) characterized by glucocorticoid deficiency, severe sexual ambiguity in both sexes and skeletal (especially craniofacial) malformations." "" + "ectodermal dysplasia-syndactyly syndrome" "Ectodermal dysplasia-syndactyly syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by sparse to absent scalp hair, eyebrows, and eyelashes (with pili torti when present), widely spaced, conical-shaped teeth with peg-shaped, conical crowns and enamel hypoplasia and palmoplantar hyperkeratosis, associated with partial cutaneous syndactyly in hands and feet." "" + "syndactyly" "A disease characterized by the presence of syndactyly, including syndromic and non-syndromic forms." "" + "retinitis pigmentosa 55" "Any retinitis pigmentosa in which the cause of the disease is a mutation in the ARL6 gene." "" + "ectodermal dysplasia-cutaneous syndactyly syndrome" "" + "retinitis pigmentosa 56" "Any retinitis pigmentosa in which the cause of the disease is a mutation in the IMPG2 gene." "" + "retinitis pigmentosa 57" "Any retinitis pigmentosa in which the cause of the disease is a mutation in the PDE6G gene." "" + "occult macular dystrophy" "Occult macular dystrophy is a rare, genetic retinal dystrophy disease characterized by bilateral progressive decline of visual acuity, due to retinal dysfunction confined only to the macula, associated with normal fundus and fluorescein angiograms and severly attenuated focal macular and multifocal electroretinograms." "" + "torsade-de-pointes syndrome with short coupling interval" "Torsade-de-pointes (TdP) syndrome with short coupling interval is a very rare variant of Torsade de pointes, a polymorphic ventricular tachycardia, which is characterized by a short coupling interval of the first TdP beat on electrocardiogram in the absence of any structural heart disease. It manifests in early adulthood with syncope, often results in ventricular fibrillation and shows a high risk of sudden cardiac death." "" + "early repolarization associated with ventricular fibrillation" "" + "chromosome 4Q32.1-q32.2 triplication syndrome" "" + "chromosome 16p12.2-p11.2 deletion syndrome" "16p11.2-p12.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism." "" + "forsythe-wakeling syndrome" "" + "epilepsy, familial adult myoclonic, 3" "" + "cranioectodermal dysplasia 2" "Any cranioectodermal dysplasia in which the cause of the disease is a mutation in the WDR35 gene." "" + "lymphedema-posterior choanal atresia syndrome" "" + "COG5-CDG" "COG5-CDG is an extremely rare form of CDG syndrome characterized clinically in the single reported case to date by moderate mental retardation with slow and inarticulate speech, truncal ataxia, and mild hypotonia." "" + "Senior-Loken syndrome 7" "Any Senior-Loken syndrome in which the cause of the disease is a mutation in the SDCCAG8 gene." "" + "primary hyperoxaluria type 3" "Primary hyperoxaluria type 3 (PH3) is a disorder of glyoxylate metabolism that can be asymptomatic or characterized by oxalate nephrolithiasis." "" + "retinitis pigmentosa 58" "Any retinitis pigmentosa in which the cause of the disease is a mutation in the ZNF513 gene." "" + "familial clubfoot due to 17q23.1q23.2 microduplication" "17q23.1-q23.2 microduplication is a newly described cause of familial isolated clubfoot." "" + "agenesis of the corpus callosum and congenital lymphedema" "" + "factor 5 and Factor VIII, combined deficiency of, 2" "Any combined deficiency of factor V and factor VIII in which the cause of the disease is a mutation in the MCFD2 gene." "" + "brachydactyly, type A1, with short stature, scoliosis, microcephaly, ptosis, hearing loss, and intellectual disability" "" + "odontoid hypoplasia" "An often asymptomatic developmental abnormality of the cervical spine. It is characterized by the hypoplasia of the odontoid which appears as a stubby peg of an odontoid process. Symptoms may develop after minor trauma and include localized neck pain, atlantoaxial instability, and transient or permanent neurologic manifestations." "" + "cocoon syndrome" "Fetal encasement syndrome is a rare, lethal developmental defect during embryogenesis characterized by severe fetal malformations, including craniofacial dysmorphism (abnormal cyst in the cranial region, hypoplastic eyeballs, two orifices in the nasal region separated by a nasal septum, abnormal orifice replacing the mouth), omphalocele and immotile, hypoplastic limbs encased under an abnormal, transparent, membrane-like skin. Additional features include absence of adnexal structures of the skin on the outer aspect of the limbs, as well as underdeveloped skeletal muscles and bones. Association with tetralogy of Fallot, horse-shoe kidneys and diaphragm and lung lobulation defects is reported." "" + "tuberculin skin test reactivity, absence of" "" + "chromosome 19p13.13 deletion syndrome" "19p13.13 microdeletion syndrome is a rare partial autosomal monosomy characterized by global developmental delay, moderate intellectual disability, macrocephaly, overgrowth, hypotonia, and facial dysmorphism (frontal bossing, down-slanting palpebral fissures). Other associated features variably include ataxia, seizures, ventriculomegaly, ocular abnormalities (strabismus, optic nerve hypoplasia) and gastrointestinal problems (abdominal pain, vomiting, constipation)." "" + "partial deletion of the short arm of chromosome 19" "" + "neuropathy, hereditary sensory and autonomic, type 1C" "A hereditary sensory and autonomic neuropathy type 1 that has material basis in heterozygous mutation in the SPTLC2 gene on chromosome 14q24." "" + "Charcot-Marie-Tooth disease recessive intermediate B" "Autosomal recessive intermediate Charcot-Marie-Tooth disease type B is an extremely rare subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease characterized by a CMT neuropathy associated with developmental delay, self-abusive behavior, dysmorphic features and vestibular Schwannoma. Motor nerve conduction velocities demonstrate features of both demyelinating and axonal pathology." "" + "dilated cardiomyopathy 1GG" "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the SDHA gene." "" + "Parkinson disease 5, autosomal dominant, susceptibility to" "Any young-onset Parkinson disease in which the cause of the disease is a mutation in the UCHL1 gene." "" + "methylmalonic acidemia due to transcobalamin receptor defect" "Methylmalonic aciduria due to transcobalamin receptor defect is a rare metabolite absorption and transport disorder characterized by a moderate increase of methylmalonic acid (MMA) in the blood and urine due to decreased cellular uptake of cobalamin resulting from decreased transcobalamin receptor function. Patients are usually asymptomatic however, screening reveals increased C3-acylcarnitine and MMA in plasma. Serum homocysteine levels may vary from normal to moderately elevated and retinal vascular occlusive disease, resulting in severe visual loss, has been reported." "" + "hereditary spastic paraplegia 48" "Autosomal recessive spastic paraplegia type 48 (SPG48) is a form of hereditary spastic paraplegia usually characterized by a pure phenotype of a slowly progressive spastic paraplegia associated with urinary incontinence with an onset in mid- to late-adulthood. A complex phenotype, with the additional findings of cognitive impairment, sensorimotor polyneuropathy, ataxia and parkinsonism, as well as thin corpus callosum and white matter lesions (seen on magnetic resonance imaging), has also been reported." "" + "C1Q deficiency" "C1q deficiency is a rare disorder associated with recurrent skin lesions, chronic infections, systemic lupus erythematosus (SLE) or SLE-like diseases. It has also been associated with a kidney disease known as mesangial proliferative glomerulonephritis. C1q is a complex and together with other proteins, C1r and C1s, it forms the C1 complex. This complex is important for the activation of the complement system (a group of proteins that work with the immune system). It also disposes cells that are dead. C1q deficiency presents in 2 different forms, absent C1q protein or abnormal C1q protein. Symptoms include infections (ear infections (otitis media), meningitis, urinary tract infections, oral infections); skin lesions (small blisters (vesicles), dark patches, and atrophic areas) that get worse upon light exposure; cataracts; loss of eyelashes, eyebrows, and scalp hair; blood in urine; and glomerulonephritis. About 93% of cases are associated with systemic lupus erythematosus. It can be caused by mutations in the C1QA, C1QB or C1QC genes and is inherited in an autosomal recessive pattern. Treatment depends on the symptoms. Recently, it was shown that C1q production can be restored by allogeneic hematopoietic stem cell transplantation, a procedure in which a person receives blood-forming stem cells (cells from which all blood cells develop) from a genetically similar, but not identical donor." "" + "migraine, with or without aura, susceptibility to, 13" "Any migraine disorder in which the cause of the disease is a mutation in the KCNK18 gene." "" + "d-2-hydroxyglutaric aciduria 2" "Any D-2-hydroxyglutaric aciduria in which the cause of the disease is a mutation in the IDH2 gene." "" + "obsolete brain calcification, Rajab type" "" "true" + "obsolete gastric cancer" "" "true" + "cone-rod dystrophy 15" "Any cone-rod dystrophy in which the cause of the disease is a mutation in the CDHR1 gene." "" + "ALG11-CDG" "A form of congenital disorders of N-linked glycosylation characterized by facial dysmorphism (microcephaly, high forehead, low posterior hairline, strabismus), hypotonia, failure to thrive, intractable seizures, developmental delay, persistent vomiting and gastric bleeding. Additional features that may be observed include fat pads anomalies, inverted nipples, and body temperature oscillation. The disease is caused by mutations in the gene ALG11 (13q14.3)." "" + "mitochondrial DNA depletion syndrome 4b" "" + "infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly" "Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly is a rare, central nervous system malformation syndrome characterized by progressive microcephaly with profound motor delay and intellectual disability, associated with hypertonia, spasticity, clonus, and seizures, with brain imaging revealing severe cerebral and cerebellar atrophy, and poor myelination." "" + "intellectual disability-severe speech delay-mild dysmorphism syndrome" "Intellectual disability-severe speech delay-mild dysmorphism syndrome, also known as intellectual disability with language impairment and with or without autistic features, is adisorder characterized by global developmental delay with moderate to severe speech delay thataffects expressive speech. Most patients have difficulty articulating words. Common signs and symptoms include broad forehead, downslanting palpebral fissures, short nose with broad tip, head appearing too large for the body, frontal hair upsweep, and bulging digit pads anddelatyed gross motor skills. Some patients have autistic features and/or behavioral problems. Congenital malformations may be associated. All reported cases have occurred de novo (without any cases in the family). It is caused by alterations (mutations) in the caused by heterozygous mutation in the FOXP1 gene." "" + "intellectual disability, anterior maxillary protrusion, and strabismus" "" + "spastic ataxia 4" "Any autosomal recessive spastic ataxia in which the cause of the disease is a mutation in the MTPAP gene." "" + "congenital dyserythropoietic anemia type 4" "Congenital dyserythropoietic anemia type IV (CDA IV) is a newly discovered form of CDA characterized by ineffective erythropoiesis and hemolysis that leads to severe anemia at birth." "" + "vesicoureteral reflux 3" "Any vesicoureteral reflux in which the cause of the disease is a mutation in the SOX17 gene." "" + "chromosome 17q11.2 deletion syndrome, 1.4Mb" "17q11 microdeletion syndrome is a rare severe form of neurofibromatosis type 1 (NF1) characterized by mild facial dysmorphism, developmental delay, intellectual disability, increased risk of malignancies, and a large number of neurofibromas." "" + "Seckel syndrome 4" "Any Seckel syndrome in which the cause of the disease is a mutation in the CENPJ gene." "" + "familial hyperaldosteronism type III" "Familial hyperaldosteronism type III (FH-III) is a rare heritable form of primary aldosteronism (PA) that is characterized by early-onset severe hypertension, non glucocorticoid-remediable hyperaldosteronism, overproduction of 18-oxocortisol and 18-hydroxycortisol, and profound hypokalemia." "" + "brachyolmia, Maroteaux type" "Autosomal recessive brachyolmia, Maroteaux type is a relatively mild form of brachyolmia, a group of rare genetic skeletal disorders, characterized by short trunk/short stature, generalized platyspondyly and rounding of vertebral bodies. It remains unknown whether the phenotype represents a single disease entity or a heterogeneous group of mild skeletal dysplasias." "" + "congenital prothrombin deficiency" "Congenital factor II deficiency is an inherited bleeding disorder due to reduced activity of factor II (FII, prothrombin) and characterized by mucocutaneous bleeding symptoms." "" + "prothrombin deficiency" "" + "THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome" "" + "chromosome 2q31.1 duplication syndrome" "" + "Rubinstein-Taybi syndrome due to EP300 haploinsufficiency" "Any Rubinstein-Taybi syndrome in which the cause of the disease is a mutation in the EP300 gene." "" + "autosomal recessive nonsyndromic hearing loss 83" "An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 9p23-p21.2." "" + "spondylocostal dysostosis 4, autosomal recessive" "Any autosomal recessive spondylocostal dysostosis in which the cause of the disease is a mutation in the HES7 gene." "" + "long QT syndrome 2" "An autosomal dominant condition caused by mutation(s) in the KCNH2 gene, encoding potassium voltage-gated channel subfamily H member 2. It is characterized by a prolonged QT interval that may result in torsade de pointes, ventricular fibrillation and/or sudden cardiac death." "" + "mammary-digital-nail syndrome" "Mammary-digital-nail syndrome is a syndromic limb malformation characterized by congenital onychodystrophy/anonychia, brachydactyly of the fifth finger, digitalization of the thumbs, with absence or hypoplasia of the distal phalanges of the hands and feet in association with juvenile hypertrophy of the breast with gigantomastia in peripubertal females." "" + "hypertrophic cardiomyopathy 7" "Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the TNNI3 gene." "" + "long QT syndrome 6" "Any long QT syndrome in which the cause of the disease is a mutation in the KCNE2 gene." "" + "dilated cardiomyopathy 1U" "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the PSEN1 gene." "" + "dilated cardiomyopathy 1V" "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the PSEN2 gene." "" + "supernumerary der(22)t(8;22) syndrome" "" + "Klippel-Feil syndrome 3, autosomal dominant" "Any isolated Klippel-Feil syndrome in which the cause of the disease is a mutation in the GDF3 gene." "" + "microphthalmia, isolated, with coloboma 6" "" + "isolated microphthalmia 7" "Any isolated microphthalmia in which the cause of the disease is a mutation in the GDF3 gene." "" + "orofacial cleft 10" "Any orofacial cleft in which the cause of the disease is a mutation in the SUMO1 gene." "" + "Noonan syndrome 7" "Any Noonan syndrome in which the cause of the disease is a mutation in the BRAF gene." "" + "LEOPARD syndrome 3" "Any Noonan syndrome with multiple lentigines in which the cause of the disease is a mutation in the BRAF gene." "" + "neuropathy, hereditary sensory, type 1D" "A hereditary sensory and autonomic neuropathy type 1 characterized by adult onset of a distal axonal sensory neuropathy that has material basis in heterozygous mutation in the ATL1 gene on chromosome 14q." "" + "progressive demyelinating neuropathy with bilateral striatal necrosis" "Progressive polyneuropathy with bilateral striatal necrosis is a rare, genetic disorder of thiamine metabolism and transport characterized by the childhood-onset of recurrent episodes of flaccid paralysis and encephalopathy, associated with bilateral striatal necrosis and chronic progressive axonal polyneuropathy with proximal and distal muscle weakness, areflexia, contractures and foot deformities." "" + "Hirschsprung disease, susceptibility to, 3" "" + "Hirschsprung disease, susceptibility to, 4" "Any Hirschsprung disease in which the cause of the disease is a mutation in the EDN3 gene." "" + "Treacher Collins syndrome 2" "Any Treacher-Collins syndrome in which the cause of the disease is a mutation in the POLR1D gene." "" + "autosomal recessive nonsyndromic hearing loss 74" "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the MSRB3 gene." "" + "developmental and epileptic encephalopathy, 7" "KCNQ2-related epileptic encephalopathy is a severe form of neonatal epilepsy that usually manifests in newborns during the first week of life with seizures (that affect alternatively both sides of the body), often accompanied by clonic jerking or more complex motor behavior, as well as signs of encephalopathy such as diffuse hypotonia, limb spasticity, lack of visual fixation and tracking and mild to moderate intellectual deficiency. The severity can range from controlled to intractable seizures and mild/moderate to severe intellectual disability." "" + "developmental and epileptic encephalopathy, 11" "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SCN2A gene." "" + "developmental and epileptic encephalopathy, 12" "An extremely rare nervous system disorder. Infants with EIEE12 develop very frequent epileptic seizures. Seizures present within the first days to months of life. Seizures may trigger eye rolling, eyelid fluttering, lip smacking, drooling, bluish coloring around the mouth, limpness, or muscle stiffening (particularly those in his or her back, legs, and arms). The seizures associated with this disease are difficult to treat and the syndrome is severely progressive. EIEE12 occurs when a child inherits two mutations in the PLCB1 gene (one from each parent). EIEE12 is inherited in an autosomal recessive fashion." "" + "malignant migrating partial seizures of infancy" "A very rare severe form of epilepsy with poor prognosis that usually begins within a few weeks of birth. The seizure activity can appear in multiple locations in the brain or migrate from one region to another during an episode. It results in severe developmental delay." "" + "autosomal recessive limb-girdle muscular dystrophy type 2Q" "Autosomal recessive limb-girdle muscular dystrophy type 2Q (LGMD2Q) is a form of limb-girdle muscular dystrophy characterized by proximal muscle weakness presenting in early childhood (with occasional falls and difficulties in climbing stairs) and a progressive course resulting in loss of ambulation in early adulthood. Muscle atrophy and multiple contractures have also been reported in rare cases." "" + "sterol carrier protein 2 deficiency" "A peroxisomal neurodegenerative disorder characterized by spasmodic torticollis, dystonic head tremor, intention tremor, nystagmus, hyposmia, and hypergonadotrophic hypogonadism with azoospermia. Slight cerebellar signs (left-sided intention tremor, balance and gait impairment) are also noted. Magnetic resonance imaging (MRI) shows bilateral hyperintense signals in the thalamus, butterfly-like lesions in the pons, and lesions in the occipital region, whereas nerve conduction studies of the lower extremities shows a predominantly motor and slight sensory neuropathy." "" + "autosomal recessive spinocerebellar ataxia 10" "Any autosomal recessive cerebellar ataxia in which the cause of the disease is a mutation in the ANO10 gene." "" + "distal 7q11.23 microdeletion syndrome" "Distal 7q11.23 microdeletion syndrome is a rare chromosomal anomaly characterized by epilepsy, neurodevelopmental disorder variably including developmental delays and intellectual disabilities of variable severity, learning disability and neurobehavioral abnormalities (autism spectrum disorder, hyperactivity, impulsivity, aggression, self-abusive behaviors, depression)." "" + "porencephaly-microcephaly-bilateral congenital cataract syndrome" "" + "retinitis pigmentosa 4" "Any retinitis pigmentosa in which the cause of the disease is a mutation in the RHO gene." "" + "chromosome 1p32-p31 deletion syndrome" "1p31p32 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the short arm of chromosome 1, characterized by developmental delay, corpus callosum agenesis/hypoplasia and craniofacial dysmorphism, such as macrocephaly (caused by hydrocephalus or ventriculomegaly), low-set ears, anteverted nostrils and micrognathia. Urinary tract defects (e.g. vesicoureteral reflux, urinary incontinence) are also frequently associated. Other reported variable manifestations include hypotonia, tethered spinal cord, Chiari type I malformation and seizures." "" + "acne inversa, familial, 2" "Any familial acne inversa in which the cause of the disease is a mutation in the PSENEN gene." "" + "acne inversa, familial, 3" "Any familial acne inversa in which the cause of the disease is a mutation in the PSEN1 gene." "" + "obsolete cardiomyopathy, dilated, 1T" "" "true" + "Congenital adrenal insuffiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency" "CLAH due to loss-of-function mutations in the CYP11A1 gene, resulting in decreased or absent activity of the enzyme P450scc, which leads to reduced conversion of cholesterol to pregnenolone, the first step in steroidogenesis." "" + "hereditary spastic paraplegia 51" "Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the AP4E1 gene." "" + "retinitis pigmentosa 27" "Any retinitis pigmentosa in which the cause of the disease is a mutation in the NRL gene." "" + "heterotaxy, visceral, 4, autosomal" "Any visceral heterotaxy in which the cause of the disease is a mutation in the ACVR2B gene." "" + "hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase" "Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency is characterised by psychomotor delay and severe myopathy (hypotonia, absent tendon reflexes and delayed myelination) from birth, associated with hypermethioninaemia and elevated serum creatine kinase levels." "" + "retinitis pigmentosa 49" "Any retinitis pigmentosa in which the cause of the disease is a mutation in the CNGA1 gene." "" + "age related macular degeneration 6" "Any age-related macular degeneration in which the cause of the disease is a mutation in the RAX2 gene." "" + "retinitis pigmentosa 47" "Any retinitis pigmentosa in which the cause of the disease is a mutation in the SAG gene." "" + "FADD-related immunodeficiency" "A rare genetic immunological disease reported in a single consanguineous Pakistani family with several affected members presenting with severe bacterial and viral infections, recurrent hepatopathy (portal inflammation, fibrosis), and recurrent, stereotypical febrile episodes, sometimes lasting several days, with encephalopathy and difficult-to-control seizures. Variable cardiac malformations were also reported. Although there were autoimmune lymphoproliferative syndrome (ALPS)-like biological features, clinical ALPS was not present. A homozygous missense mutation in the FADD gene (11q13.3) was found in the family and the disease is thought to follow an autosomal recessive pattern of inheritance." "" + "age related macular degeneration 5" "Any age-related macular degeneration in which the cause of the disease is a mutation in the ERCC6 gene." "" + "46,XY sex reversal 6" "" + "cataract 16 multiple types" "Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CRYAB gene." "" + "hypertrophic cardiomyopathy 9" "Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the TTN gene." "" + "retinitis pigmentosa 45" "Any retinitis pigmentosa in which the cause of the disease is a mutation in the CNGB1 gene." "" + "retinitis pigmentosa 44" "Any retinitis pigmentosa in which the cause of the disease is a mutation in the RGR gene." "" + "chromosome 17p13.1 deletion syndrome" "" + "age related macular degeneration 8" "Any age-related macular degeneration in which the cause of the disease is a mutation in the ARMS2 gene." "" + "complement component 3 deficiency" "A rare genetic disorder with an autosomal recessive pattern of inheritance. It is caused by the ineffective or decreased biosynthesis of the third complement component, C3. C3 deficiency may also be acquired acutely post-infection or chronically from co-morbid autoimmune disorders. If C3 is adequately synthesized, its rapid depletion may result in a functional deficiency. Clinical signs of the inherited deficiency present within the first decade of life and are consistent with the signs of recurrent systemic infection or immune complex disease. Deficiency of serum C3 and its major cleavage product, C3b, will decrease the effective humoral immune response to encapsulated bacteria. Deficiency of C3 also impairs clearance of circulating immune complexes and therefore predisposes to rheumatic and renal disease." "" + "aortic aneurysm, familial thoracic 7" "" + "complement component C1s deficiency" "A rare defect resulting in C1 deficiency and impaired activation of the complement classical pathway. C1 deficiency generally leads to severe immune complex disease with features of systemic lupus erythematosus and glomerulonephritis." "" + "age related macular degeneration 12" "Any age-related macular degeneration in which the cause of the disease is a mutation in the CX3CR1 gene." "" + "type II complement component 8 deficiency" "Any classic complement early component deficiency in which the cause of the disease is a mutation in the C8B gene." "" + "type I complement component 8 deficiency" "Any classic complement early component deficiency in which the cause of the disease is a mutation in the C8A gene." "" + "immunodeficiency due to MASP-2 deficiency" "Immunodeficiency due to MASP-2 deficiency is a rare, genetic immunodeficiency due to a complement cascade protein anomaly characterized by low serum levels of MASP-2 and a variable susceptibility to bacterial infections (e.g. pulmonary tuberculosis, pneumococcal pneumonia, skin abscesses and sepsis), and autoimmune diseases (e.g. inflammatory lung disease, cystic fibrosis, systemic lupus erythematosus). In many cases it remains asymptomatic." "" + "disorder of lectin complement activation pathway" "A disease that has its basis in the disruption of complement activation, lectin pathway." "" + "3p- syndrome" "Distal monosomy 3p is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the short arm of chromosome 3, with a highly variable phenotype typically characterized by pre- and post-natal growth retardation, intellectual disability, developmental delay and craniofacial dysmorphism (microcephaly, trigonocephaly, downslanting palpebral fissures, telecanthus, ptosis, micrognathia). Postaxial polydactyly, hypotonia, renal anomalies and congenital heart defects (e.g. atrioventricular septal defect) may be associated." "" + "partial deletion of the short arm of chromosome 3" "" + "retinitis pigmentosa 20" "Any retinitis pigmentosa in which the cause of the disease is a mutation in the RPE65 gene." "" + "aneurysm-osteoarthritis syndrome" "" + "immunodeficiency 31B" "" + "Meier-Gorlin syndrome 2" "Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the ORC4 gene." "" + "retinitis pigmentosa 40" "Any retinitis pigmentosa in which the cause of the disease is a mutation in the PDE6B gene." "" + "Meier-Gorlin syndrome 3" "Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the ORC6 gene." "" + "Meier-Gorlin syndrome 4" "Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the CDT1 gene." "" + "Meier-Gorlin syndrome 5" "Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the CDC6 gene." "" + "primary ciliary dyskinesia 14" "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CCDC39 gene." "" + "primary ciliary dyskinesia 15" "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CCDC40 gene." "" + "retinitis pigmentosa 39" "Any retinitis pigmentosa in which the cause of the disease is a mutation in the USH2A gene." "" + "retinitis pigmentosa 43" "Any retinitis pigmentosa in which the cause of the disease is a mutation in the PDE6A gene." "" + "pontocerebellar hypoplasia type 2D" "Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the SEPSECS gene." "" + "congenital bile acid synthesis defect 3" "Congenital bile acid synthesis defect type 3 (BAS defect type 3) is a severe anomaly of bile acid synthesis characterized by severe neonatal cholestatic liver disease." "" + "autosomal recessive limb-girdle muscular dystrophy type 2P" "Autosomal recessive limb-girdle muscular dystrophy type 2P (LGMD2P) is a form of limb-girdle muscular dystrophy characterized by slowly-progressive mainly proximal muscle weakness presenting in early childhood (with difficulties walking and climbing stairs) and mild to severe intellectual disability. Additional manifestations reported include microcephaly, mild increase in thigh or calf muscles, and contractures of the ankles." "" + "primary qualitative or quantitative defects of alpha-dystroglycan" "" + "asphyxiating thoracic dystrophy 4" "An asphyxiating thoracic dystrophy has material basis in compound heterozygous mutation in the TTC21B gene on chromosome 2q24." "" + "nephronophthisis 12" "Any nephronophthisis in which the cause of the disease is a mutation in the TTC21B gene." "" + "Seckel syndrome 5" "Any Seckel syndrome in which the cause of the disease is a mutation in the CEP152 gene." "" + "nephronophthisis 9" "Any nephronophthisis in which the cause of the disease is a mutation in the NEK8 gene." "" + "complement component 9 deficiency" "Any classic complement early component deficiency in which the cause of the disease is a mutation in the C9 gene." "" + "Leber congenital amaurosis 6" "Any Leber congenital amaurosis in which the cause of the disease is a mutation in the RPGRIP1 gene." "" + "retinitis pigmentosa 48" "Any retinitis pigmentosa in which the cause of the disease is a mutation in the GUCA1B gene." "" + "generalized epilepsy with febrile seizures plus, type 8" "" + "Leber congenital amaurosis 7" "Any Leber congenital amaurosis in which the cause of the disease is a mutation in the CRX gene." "" + "congenital stationary night blindness 1D" "Any congenital stationary night blindness in which the cause of the disease is a mutation in the SLC24A1 gene." "" + "obsolete progressive myoclonic epilepsy type 5" "" "true" + "multisystemic smooth muscle dysfunction syndrome" "Multisystemic smooth muscle dysfunction syndrome is a disease in which the activity of smooth muscle throughout the body is impaired. This leads to widespread problems including blood vessel abnormalities, a decreased response of the pupils to light, a weak bladder, and weakened contractions of the muscles used for the digestion of food (hypo peristalsis). A certain mutation in the ACTA2 gene has been shown to cause this condition insome individuals." "" + "Leber congenital amaurosis 8" "Any Leber congenital amaurosis in which the cause of the disease is a mutation in the CRB1 gene." "" + "Leber congenital amaurosis 11" "Any Leber congenital amaurosis in which the cause of the disease is a mutation in the IMPDH1 gene." "" + "hypertrophic cardiomyopathy 16" "Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the MYOZ2 gene." "" + "constitutional megaloblastic anemia with severe neurologic disease" "" + "Leber congenital amaurosis 15" "Any Leber congenital amaurosis in which the cause of the disease is a mutation in the TULP1 gene." "" + "hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome" "" + "osteogenesis imperfecta type 10" "Any osteogenesis imperfecta in which the cause of the disease is a mutation in the SERPINH1 gene." "" + "osteogenesis imperfecta type 12" "Any osteogenesis imperfecta in which the cause of the disease is a mutation in the SP7 gene." "" + "inosine triphosphatase deficiency" "An inherited condition caused by mutation(s) in the ITPA gene, encoding inosine triphosphate pyrophosphatase. It is characterized by elevated concentrations of inosine triphosphate in erythrocytes." "" + "fucosyltransferase 6 deficiency" "" + "dextro-looped transposition of the great arteries 3" "Any dextro-looped transposition of the great arteries in which the cause of the disease is a mutation in the GDF1 gene." "" + "episodic ataxia type 5" "Episodic ataxia type 5 (EA5) is an extremely rare form of Hereditary episodic ataxia characterized by recurrent episodes of vertigo and ataxia lasting several hours." "" + "achromatopsia 4" "Any achromatopsia in which the cause of the disease is a mutation in the GNAT2 gene." "" + "orofacial cleft 13" "" + "immunodeficiency due to ficolin3 deficiency" "" + "retinitis pigmentosa 59" "Any retinitis pigmentosa in which the cause of the disease is a mutation in the DHDDS gene." "" + "retinitis pigmentosa 38" "Any retinitis pigmentosa in which the cause of the disease is a mutation in the MERTK gene." "" + "generalized epilepsy with febrile seizures plus, type 7" "Any generalized epilepsy with febrile seizures plus in which the cause of the disease is a mutation in the SCN9A gene." "" + "autosomal recessive nonsyndromic hearing loss 61" "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the SLC26A5 gene." "" + "fatal infantile hypertonic myofibrillar myopathy" "" + "hypercontractile muscle stiffness syndrome" "" + "Hirschsprung disease, cardiac defects, and autonomic dysfunction" "" + "hypertrophic cardiomyopathy 17" "Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the JPH2 gene." "" + "hypertrophic cardiomyopathy 18" "Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the PLN gene." "" + "hypertrophic cardiomyopathy 19" "Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the CALR3 gene." "" + "hypertrophic cardiomyopathy 20" "Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the NEXN gene." "" + "PLIN1-related familial partial lipodystrophy" "" + "dilated cardiomyopathy 1HH" "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the BAG3 gene." "" + "renal hypomagnesemia 6" "" + "chromosome 13q14 deletion syndrome" "Monosomy 13q14 is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 13, characterized by developmental delay, variable degrees of intellectual disability, retinoblastoma and craniofacial dysmorphism (incl. micro/dolichocephaly, high and broad forehead, prominent eyebrows, thick, anteverted ear lobes, short nose with a broad nasal bridge and bulbous tip, prominent philtrum, large mouth with thin upper lip and thick, everted lower lip). Other features reported include high birth weight, macrocephaly, pinealoma, hepatomegaly, inguinal hernia and cryptorchidism." "" + "Meckel syndrome, type 8" "Any Meckel syndrome in which the cause of the disease is a mutation in the TCTN2 gene." "" + "obesity, hyperphagia, and developmental delay" "" + "cataract 36" "Any cataract in which the cause of the disease is a mutation in the TDRD7 gene." "" + "spinocerebellar ataxia type 35" "Spinocerebellar ataxia type 35 (SCA35) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1) characterized by the adult-onset of progressive gait and limb ataxia, dysarthria, ocular dysmetria, intention tremor, hyperreflexia and spasmodic torticollis." "" + "spinocerebellar ataxia type 32" "Spinocerebellar ataxia type 32 (SCA32) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1) characterized by ataxia, cognitive impairment and azoospermia in males." "" + "recurrent Neisseria infections due to factor D deficiency" "" + "lipodystrophy, partial, acquired, with low complement component c3, with or without glomerulonephritis" "" + "autosomal recessive nonsyndromic hearing loss 89" "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the KARS gene." "" + "megalencephalic leukoencephalopathy with subcortical cysts 2A" "" + "megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability" "" + "alopecia-intellectual disability syndrome 3" "" + "acetyl-coa carboxylase deficiency" "" + "obsolete PSMNSW" "" "true" + "autosomal recessive congenital ichthyosis 8" "Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the LIPN gene." "" + "IgA nephropathy, susceptibility to, 2" "" + "Okt4 epitope deficiency" "" + "schizophrenia 15" "A schizophrenia that has material basis in a mutation of SHANK3 on chromosome 22q13.33." "" + "Fanconi anemia complementation group P" "Any Fanconi anemia in which the cause of the disease is a mutation in the SLX4 gene." "" + "immunodeficiency 51" "" + "frontotemporal dementia and/or amyotrophic lateral sclerosis 6" "Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the VCP gene." "" + "amyloidosis, primary localized cutaneous, 2" "" + "candidiasis, familial, 6" "Any familial chronic mucocutaneous candidiasis in which the cause of the disease is a mutation in the IL17F gene." "" + "spermatogenic failure 8" "Any azoospermia in which the cause of the disease is a mutation in the NR5A1 gene." "" + "spermatogenic failure 9" "Any azoospermia in which the cause of the disease is a mutation in the DPY19L2 gene." "" + "schizophrenia 16" "A schizophrenia that has material basis in a mutation on chromosome 7q36.3." "" + "granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3" "" + "myopia 19, autosomal dominant" "" + "intellectual disability, autosomal dominant 6" "Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the GRIN2B gene." "" + "melanoma, cutaneous malignant, susceptibility to, 6" "" + "cyanosis, transient neonatal" "" + "hemoglobin H disease" "Hemoglobin H (HbH) disease is a moderate to severe form of alpha-thalassemia characterized by pronounced microcytic hypochromic hemolytic anemia." "" + "pituitary hormone deficiency secondary to storage disease" "" + "atrial fibrillation, familial, 9" "Any familial atrial fibrillation in which the cause of the disease is a mutation in the KCNJ2 gene." "" + "hypotrichosis 3" "Any hypotrichosis in which the cause of the disease is a mutation in the KRT74 gene." "" + "osteogenesis imperfecta type 6" "Any osteogenesis imperfecta in which the cause of the disease is a mutation in the SERPINF1 gene." "" + "retinitis pigmentosa 60" "Any retinitis pigmentosa in which the cause of the disease is a mutation in the PRPF6 gene." "" + "beta-thalassemia HBB/LCRB" "Abnormal clinical manifestations of beta thalassemia that are as a result of the underlying genotype." "" + "pituitary hormone deficiency, combined, 6" "Any combined pituitary hormone deficiencies, genetic form in which the cause of the disease is a mutation in the OTX2 gene." "" + "dyskeratosis congenita, autosomal recessive 2" "A dyskeratosis congenita that has material basis in an autosomal recessive mutation of NOLA2 on chromosome 5q35.3." "" + "dyskeratosis congenita, autosomal recessive 3" "A dyskeratosis congenita that has material basis in an autosomal recessive mutation of WRAP53 on chromosome 17p13.1." "" + "dyskeratosis congenita, autosomal dominant 2" "A dyskeratosis congenita that has material basis in an autosomal dominant mutation of TERT on chromosome 5p15.33." "" + "dyskeratosis congenita, autosomal dominant 3" "A dyskeratosis congenita that has material basis in an autosomal dominant mutation of TINF2 on chromosome 14q12." "" + "Nestor-Guillermo progeria syndrome" "" + "bleeding diathesis due to thromboxane synthesis deficiency" "" + "primary ciliary dyskinesia 16" "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAL1 gene." "" + "progressive myoclonic epilepsy type 6" "Any progressive myoclonic epilepsy in which the cause of the disease is a mutation in the GOSR2 gene." "" + "lissencephaly 4" "Any lissencephaly in which the cause of the disease is a mutation in the NDE1 gene." "" + "intellectual disability, autosomal recessive 14" "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the TECR gene." "" + "catecholaminergic polymorphic ventricular tachycardia 3" "Any catecholaminergic polymorphic ventricular tachycardia in which the cause of the disease is a mutation in the TECRL gene." "" + "atrial fibrillation, familial, 10" "Any familial atrial fibrillation in which the cause of the disease is a mutation in the SCN5A gene." "" + "PSPH deficiency" "3-Phosphoserine phosphatase deficiency is an extremely rare form of serine deficiency syndrome characterized clinically by congenital microcephaly and severe psychomotor retardation in the single reported case to date, which was associated with Williams syndrome." "" + "protein Z deficiency" "" + "hyperlipidemia due to hepatic triglyceride lipase deficiency" "Hyperlipidemia due to hepatic triacylglycerol lipase deficiency is a rare, genetic hyperalphalipoproteinemia characterized by elevated plasma cholesterol and triglyceride (TG) levels with a marked TG enrichment of low- and high-density lipoproteins (HDL), presence of circulating beta-very low density lipoproteins and elevated HDL cholesterol levels, in the presence of a very low, or undetectable, postheparin plasma hepatic lipase activity. Premature atherosclerosis and/or coronary heart disease may be associated." "" + "apolipoprotein c-III deficiency" "" + "hydroxyacyl glutathione hydrolase deficiency" "" + "heme oxygenase 1 deficiency" "" + "inborn disorder of porphyrin metabolism" "An acquired metabolic disease that is has its basis in the disruption of porphyrin-containing compound metabolic process." "" + "autosomal recessive nonsyndromic hearing loss 29" "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the CLDN14 gene." "" + "alpha-2-macroglobulin deficiency" "" + "hypotonia-failure to thrive-microcephaly syndrome" "Leukotriene C4 synthase deficiency is an extremely rare fatal neurometabolic developmental disorder characterized clinically by muscular hypotonia, psychomotor retardation, failure to thrive, and microcephaly." "" + "deafness-lymphedema-leukemia syndrome" "Deafness - lymphedema - leukemia is a very rare, serious syndromic genetic disorder characterized by primary lymphedema, immunodeficiency, and hematological disorders." "" + "GATA2 deficiency with susceptibility to MDS/AML" "A disorder arising from deficiency in the GATA2 with a wide spectrum of phenotypes. Autosomal dominant mutations of GATA2 cause a haploinsufficiency, which, in consequence, cause individuals to develop hematological, immunological, lymphatic, or other presentations. These often progress to severe organ (e.g. lung) failure, opportunistic infections, myelodysplastic syndrome, and/or acute myeloid leukemia. The most common clinical denominator is the propensity for myeloid neoplasia (myelodysplastic syndrome [MDS], myeloproliferative neoplasms [MPN], chronic myelomonocytic leukemia [CMML], acute myeloid leukemia [AML])." "" + "complex cortical dysplasia with other brain malformations 1" "Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the TUBB3 gene." "" + "Moyamoya disease 5" "Any Moyamoya disease in which the cause of the disease is a mutation in the ACTA2 gene." "" + "trypsinogen deficiency" "" + "atrial fibrillation, familial, 11" "Any familial atrial fibrillation in which the cause of the disease is a mutation in the GJA5 gene." "" + "atrial fibrillation, familial, 12" "Any familial atrial fibrillation in which the cause of the disease is a mutation in the ABCC9 gene." "" + "mitochondrial complex V (ATP synthase) deficiency nuclear type 2" "A mitochondrial complex deficiency characterized by early neonatal onset of hypotonia, hypetrophic cardiomyopathy and apneic spells within hours after birth accompanied by lactic acidosis, hyperammonemia and 3-methylglutaconic aciduria." "" + "mitochondrial complex V (ATP synthase) deficiency nuclear type 3" "Any mitochondrial proton-transporting ATP synthase complex deficiency in which the cause of the disease is a mutation in the ATP5F1E gene." "" + "acetyl-CoA acetyltransferase-2 deficiency" "" + "N-acetylaspartate deficiency" "" + "distal myopathy with posterior leg and anterior hand involvement" "Distal myopathy with posterior leg and anterior hand involvement, also named distal ABD-filaminopathy, is a neuromuscular disease characterized by a progressive symmetric muscle weakness of anterior upper and posterior lower limbs." "" + "hereditary spastic paraplegia 47" "Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the AP4B1 gene." "" + "hereditary spastic paraplegia 52" "Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the AP4S1 gene." "" + "immunodeficiency-centromeric instability-facial anomalies syndrome 2" "Any immunodeficiency-centromeric instability-facial anomalies syndrome in which the cause of the disease is a mutation in the ZBTB24 gene." "" + "psoriasis 13, susceptibility to" "Any psoriasis in which the cause of the disease is a mutation in the TRAF3IP2 gene." "" + "Hermansky-Pudlak syndrome 3" "Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the HPS3 gene." "" + "Hermansky-Pudlak syndrome without pulmonary fibrosis" "Hermansky-Pudlak syndrome without pulmonary fibrosis as a complication includes three relatively mild types (HPS-3, HPS-5 and HPS-6) of Hermansky-Pudlak syndrome (HPS), a multi-system disorder characterized by ocular or oculocutaneous albinism, bleeding diathesis and, in some cases, granulomatous colitis." "" + "Hermansky-Pudlak syndrome 4" "Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the HPS4 gene." "" + "Hermansky-Pudlak syndrome 5" "Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the HPS5 gene." "" + "Hermansky-Pudlak syndrome 6" "Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the HPS6 gene." "" + "Hermansky-Pudlak syndrome 7" "Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the DTNBP1 gene." "" + "Hermansky-Pudlak syndrome 8" "Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the BLOC1S3 gene." "" + "chondrodysplasia with joint dislocations, gPAPP type" "" + "aspergillosis, susceptibility to" "" + "multiple congenital anomalies-hypotonia-seizures syndrome 1" "Any multiple congenital anomalies/dysmorphic syndrome-intellectual disability in which the cause of the disease is a mutation in the PIGN gene." "" + "anhaptoglobinemia" "" + "Fanconi anemia complementation group G" "Fanconi anemia caused by mutations of the FANCG gene." "" + "Fanconi anemia complementation group L" "Any Fanconi anemia in which the cause of the disease is a mutation in the FANCL gene." "" + "atrial septal defect 3" "Any atrial heart septal defect in which the cause of the disease is a mutation in the MYH6 gene." "" + "sick sinus syndrome 3, susceptibility to" "Any familial sick sinus syndrome in which the cause of the disease is a mutation in the MYH6 gene." "" + "short-rib thoracic dysplasia 7 with or without polydactyly" "An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the WDR35 gene on chromosome 2p21.1." "" + "combined oxidative phosphorylation defect type 8" "Combined oxidative phosphorylation defect type 8 is a mitochondrial disease due to a defect in mitochondrial protein synthesis resulting in deficiency of respiratory chain complexes I, III and IV in the cardiac and skeletal muscle and brain characterized by severe hypertrophic cardiomyopathy, pulmonary hypoplasia, generalized muscle weakness and neurological involvement." "" + "acatalasia" "A congenital disorder resulting from a deficiency in erythrocyte catalase, an enzyme responsible for the breakdown of hydrogen peroxide." "" + "Keppen-Lubinsky syndrome" "" + "cranioectodermal dysplasia 3" "Any cranioectodermal dysplasia in which the cause of the disease is a mutation in the IFT43 gene." "" + "cutis laxa - Marfanoid syndrome" "" + "plasma fibronectin deficiency" "" + "recurrent infections associated with rare immunoglobulin isotypes deficiency" "Deficiencies in immunoglobulin (Ig) isotypes (including: isolated IgG subclass deficiency, IgG sublcass deficiency with IgA deficiency and kappa chain deficiency) are primary immunodeficiencies that are often asymptomatic but can be characterized by recurrent, often pyogenic, sinopulmonary infections." "" + "Lipedema" "Disorder of adipose tissue characterized by symmetric and bilateral enlargement of the lower extremities due to abnormal deposition of subcutaneous fat often in obese women. It is associated with hematoma, pain and may progress to secondary lymphedema which is known as lipolymphedema." "" + "DYRK1A-related intellectual disability syndrome" "An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of DYRK1A on chromosome 21q22.13." "" + "methylmalonate semialdehyde dehydrogenase deficiency" "" + "pyruvate dehydrogenase E1-beta deficiency" "Pyruvate dehydrogenase E1-beta deficiency is an extremely rare form of pyruvate dehydrogenase deficiency (PDHD) characterized by severe lactic acidosis, developmental delay and hypotonia." "" + "intellectual disability, autosomal dominant 2" "Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the DOCK8 gene." "" + "mosaic variegated aneuploidy syndrome 2" "Any mosaic variegated aneuploidy syndrome in which the cause of the disease is a mutation in the CEP57 gene." "" + "occipital pachygyria and polymicrogyria" "" + "hereditary sensory neuropathy-deafness-dementia syndrome" "A hereditary sensory neuropathy characterized by adult onset of progressive peripheral sensory loss, progressive hearing impairment, and early-onset dementia that has material basis in heterozygous mutation in the DNMT1 gene on chromosome 19p13." "" + "hydrolethalus syndrome 2" "Any hydrolethalus syndrome in which the cause of the disease is a mutation in the KIF7 gene." "" + "Chitotriosidase deficiency" "" + "glycogen storage disease due to lactate dehydrogenase H-subunit deficiency" "A condition that affects how the body breaks down sugar to use as energy in muscle cells. Unlike people with lactate dehydrogenase A deficiency, people with this condition typically do not have any signs or symptoms. It is unclear why this condition does not cause any health problems. Affected people are usually diagnosed when routine blood tests reveal reduced activity of the enzyme lactate dehydrogenase. LDHBD is caused by mutations in the LDHB gene and is inherited in an autosomal recessive manner." "" + "Perrault syndrome 3" "Any Perrault syndrome in which the cause of the disease is a mutation in the CLPP gene." "" + "focal segmental glomerulosclerosis 6" "Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the MYO1E gene." "" + "Stickler syndrome, type 4" "Any autosomal recessive Stickler syndrome in which the cause of the disease is a mutation in the COL9A1 gene." "" + "autosomal recessive Stickler syndrome" "A rare type of Stickler syndrome characterized by moderate to severe sensorineural hearing loss, high myopia, retinal degeneration, vitreous anomalies, and epiphyseal dysplasia. Midface hypoplasia, cleft palate, as well as additional skeletal manifestations (such as platyspondyly, scoliosis, and tibial and femoral bowing at birth) have also been observed." "" + "epiphyseal dysplasia, multiple, 6" "Any multiple epiphyseal dysplasia in which the cause of the disease is a mutation in the COL9A1 gene." "" + "nonsyndromic congenital nail disorder 9" "" + "autosomal dominant nonsyndromic hearing loss 64" "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the DIABLO gene." "" + "spinocerebellar ataxia type 36" "Spinocerebellar ataxia type 36 (SCA36) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1) characterized by gait and limb ataxia, lower limb spasticity, dysarthria, muscle fasiculations, tongue atrophy and hyperreflexia." "" + "hyperbiliverdinemia" "Hyperbiliverdinemia is a rare, genetic hepatic disease characterized by the presence of green coloration of the skin, urine, plasma and other body fluids (ascites, breastmilk) or parts (sclerae) due to increased serum levels of biliverdin in association with biliary obstruction and/or liver failure. Association with malnutrition, medication, and congenital biliary atresia has also been reported." "" + "obsolete nonsyndromic congenital nail disorder 10" "" "true" + "platelet-type bleeding disorder 14" "Any inherited bleeding disorder, platelet-type in which the cause of the disease is a mutation in the TBXAS1 gene." "" + "myostatin-related muscle hypertrophy" "Myostatin-related muscle hypertrophy is a rare condition characterized by reduced body fat and increased muscle size. Affected individuals have up to twice the usual amount of muscle mass in their bodies. They also tend to have increased muscle strength. This condition is not known to cause any medical problems, and affected individuals are intellectually normal. Myostatin-related muscle hypertrophy is caused by mutations in the MSTN gene. It follows an incomplete autosomal dominant pattern of inheritance." "" + "autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome" "Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome is an extremely rare, autosomal dominant immunological disorder characterized by variable enteropathy, endocrine disorders (e.g. type 1 diabetes mellitus, hypothyroidism), immune dysregulation with pulmonary and blood-borne bacterial infections, and fungal infections (chronic mucocutaneous candidiasis) developing in infancy. Other manifestations include short stature, eczema, hepatosplenomegaly, delayed puberty, and osteoporosis/osteopenia." "" + "gluthathione peroxidase deficiency" "" + "paragangliomas 5" "Any paraganglioma in which the cause of the disease is a mutation in the SDHA gene." "" + "myopia 20, autosomal dominant" "" + "myopia 21, autosomal dominant" "Any myopia (disease) in which the cause of the disease is a mutation in the ZNF644 gene." "" + "brittle cornea syndrome 2" "Any brittle cornea syndrome in which the cause of the disease is a mutation in the PRDM5 gene." "" + "Hermansky-Pudlak syndrome 9" "Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the BLOC1S6 gene." "" + "monocytopenia with susceptibility to infections" "" + "Joubert syndrome 13" "Any Joubert syndrome in which the cause of the disease is a mutation in the TCTN1 gene." "" + "Meckel syndrome, type 10" "Any Meckel syndrome in which the cause of the disease is a mutation in the B9D2 gene." "" + "retinitis pigmentosa 61" "Any retinitis pigmentosa in which the cause of the disease is a mutation in the CLRN1 gene." "" + "retinitis pigmentosa 62" "Any retinitis pigmentosa in which the cause of the disease is a mutation in the MAK gene." "" + "Geleophysic dysplasia 2" "Any geleophysic dysplasia in which the cause of the disease is a mutation in the FBN1 gene." "" + "Leber congenital amaurosis 16" "Any Leber congenital amaurosis in which the cause of the disease is a mutation in the KCNJ13 gene." "" + "hypertelorism-preauricular sinus-punctual pits-deafness syndrome" "" + "craniosynostosis and dental anomalies" "" + "pigmented nodular adrenocortical disease, primary, 3" "Any primary pigmented nodular adrenocortical disease in which the cause of the disease is a mutation in the PDE8B gene." "" + "overgrowth-macrocephaly-facial dysmorphism syndrome" "This syndrome is characterised by tall stature, learning difficulties and facial dysmorphism." "True" + "craniofacial anomalies and anterior segment dysgenesis syndrome" "" + "nephrotic syndrome, type 6" "Any nephrotic syndrome in which the cause of the disease is a mutation in the PTPRO gene." "" + "congenital myasthenic syndrome 16" "Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the SCN4A gene." "" + "SCN4A-related myopathy, autosomal recessive" "Any congenital myopathy in which the cause of the disease is a mutation in the SCN4A gene. It include is a spectrum of autosomal recessive disorders including congenital myasthenic syndrome, fetal hypokinesia, and congenital myopathy." "" + "platelet-type bleeding disorder 9" "Any inherited bleeding disorder, platelet-type in which the cause of the disease is a mutation in the ITGA2 gene." "" + "bleeding diathesis due to a collagen receptor defect" "" + "platelet-type bleeding disorder 11" "Any inherited bleeding disorder, platelet-type in which the cause of the disease is a mutation in the GP6 gene." "" + "Rafiq syndrome" "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the MAN1B1 gene." "" + "Parkinson disease 17" "Any Parkinson disease in which the cause of the disease is a mutation in the VPS35 gene." "" + "psoriasis 14, pustular" "Any psoriasis in which the cause of the disease is a mutation in the IL36RN gene." "" + "obsolete unclassified genetic skin disorder" "" "true" + "3M syndrome 3" "Any 3-M syndrome in which the cause of the disease is a mutation in the CCDC8 gene." "" + "hyperphosphatasia with intellectual disability syndrome 3" "Any hyperphosphatasia-intellectual disability syndrome in which the cause of the disease is a mutation in the PGAP2 gene." "" + "intellectual disability, autosomal recessive 16" "" + "Meckel syndrome, type 9" "Any Meckel syndrome in which the cause of the disease is a mutation in the B9D1 gene." "" + "lung cancer susceptibility 5" "" + "autosomal dominant nonsyndromic hearing loss 33" "An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 13q34." "" + "encephalopathy, acute, infection-induced, susceptibility to, 4" "Any encephalopathy, acute, infection-induced in which the cause of the disease is a mutation in the CPT2 gene." "" + "acute necrotizing encephalopathy of childhood" "Acute necrotizing encephalopathy of childhood is a rare neurologic disease characterized by a rapid onset of seizures, an altered state of consciousness, neurologic decline, and variable degrees of hepatic dysfunction following a respiratory or gastrointesitnal infection (e.g. mycoplasma, influenza virus) in a previously healthy child. Brain MRI of patients reveals bilateral, multiple, symmetrical lesions predominantly observed in thalami and brainstem, but also in periventricular white matter and cerebellum in some cases." "" + "neuropathy, hereditary sensory, type 2C" "Any hereditary sensory and autonomic neuropathy type 2 in which the cause of the disease is a mutation in the KIF1A gene." "" + "Adams-Oliver syndrome 2" "Any Adams-Oliver syndrome in which the cause of the disease is a mutation in the DOCK6 gene." "" + "primary biliary cholangitis 4" "" + "primary biliary cholangitis 5" "" + "Warburg micro syndrome 3" "Any Warburg micro syndrome in which the cause of the disease is a mutation in the RAB18 gene." "" + "narcolepsy 6, susceptibility to" "" + "familial retinal arterial macroaneurysm" "" + "Warburg micro syndrome 2" "Any Warburg micro syndrome in which the cause of the disease is a mutation in the RAB3GAP2 gene." "" + "holoprosencephaly 11" "Any holoprosencephaly in which the cause of the disease is a mutation in the CDON gene." "" + "hyperuricemic nephropathy, familial juvenile type 3" "" + "Charcot-Marie-Tooth disease axonal type 2O" "Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the DYNC1H1 gene." "" + "autosomal recessive spinocerebellar ataxia 11" "Any autosomal recessive syndromic cerebellar ataxia in which the cause of the disease is a mutation in the SYT14 gene." "" + "chromosome 8q21.11 deletion syndrome" "8q21.11 microdeletion syndrome encompasses heterozygous overlapping microdeletions on chromosome 8q21.11 resulting in intellectual disability, facial dysmorphism comprising a round face, ptosis, short philtrum, Cupid's bow and prominent low-set ears, nasal speech and mild finger and toe anomalies." "" + "obsolete primary microcephaly-epilepsy-permanent neonatal diabetes syndrome" "" "true" + "hypotrichosis 9" "A hypotrichosis that has material basis in an autosomal recessive mutation on chromosome 10q11.23-q22.3." "" + "hypotrichosis 10" "A hypotrichosis that has material basis in an autosomal recessive mutation on chromosome 7p22.3-p21.3." "" + "intellectual disability, autosomal recessive 18" "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the MED23 gene." "" + "narcolepsy 7" "Any narcolepsy in which the cause of the disease is a mutation in the MOG gene." "" + "Parkinson disease 18, autosomal dominant, susceptibility to" "Any hereditary late onset Parkinson disease in which the cause of the disease is a mutation in the EIF4G1 gene." "" + "aneurysm, intracranial berry, 11" "" + "intellectual disability, autosomal dominant 8" "Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the GRIN1 gene." "" + "intellectual disability, autosomal dominant 9" "An autosomal dominant condition caused by mutation(s) in the KIF1A gene, encoding kinesin-like protein KIF1A. It is characterized by microcephaly, intellectual disability, and delayed psychomotor development. The condition is progressive, occurs in early infancy, and is of variable severity." "" + "intellectual disability, autosomal dominant 10" "Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the CACNG2 gene." "" + "intellectual disability, autosomal dominant 11" "Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the EPB41L1 gene." "" + "microcephaly-capillary malformation syndrome" "" + "arthrogryposis, Perthes disease, and upward gaze palsy" "" + "combined malonic and methylmalonic acidemia" "Combined malonic and methylmalonic acidemia is a rare inborn error of metabolism characterized by elevation of malonic acid (MA) and methylmalonic acid (MMA) in body fluids, with higher levels of MMA than MA. CMAMMA presents in childhood with metabolic acidosis, developmental delay, dystonia and failure to thrive or in adulthood with seizures, memory loss and cognitive decline." "" + "Barrett esophagus" "Esophageal lesion lined with columnar metaplastic epithelium which is flat or villiform. Barrett epithelium is characterized by two different types of cells: goblet cells and columnar cells. The symptomatology of Barrett esophagus is that of gastro-esophageal reflux. It is the precursor of most esophageal adenocarcinomas. (WHO)" "" + "platelet-activating factor acetylhydrolase deficiency" "" + "46,XY disorder of sex development due to testicular 17,20-desmolase deficiency" "" + "46,XY disorder of sexual development due to dihydrotestosterone backdoor pathway biosynthesis defect" "True" + "46,XY disorder of sex development due to isolated 17,20-lyase deficiency" "46,XY disorder of sex development due to isolated 17,20-lyase deficiency is a rare disorder of sex development due to reduced 17,20-lyase activity that affects individuals with 46,XY karyotype and is characterized by ambiguous external genitalia, including micropenis, perineal hypospadias, bifid scrotum, cryptorchidism, and a blind vaginal pouch. Blood pressure and electrolytes are normal whilst hormonal investigations show normal basal and stimulated levels of cortisol, and low basal and stimulated androgen levels." "" + "epilepsy, juvenile myoclonic, susceptibility to, 9" "" + "Stickler syndrome, type 5" "Any autosomal recessive Stickler syndrome in which the cause of the disease is a mutation in the COL9A2 gene." "" + "obsolete myelodysplastic syndrome" "" "true" + "tetrasomy 18p" "Tetrasomy 18p is a very rare structural chromosomal anomaly affecting multiple body systems and characterized clinically by craniofacial abnormalities, delayed development, cognitive impairment, changes in muscle tone, distinctive facial features, and rarely renal malformations." "" + "partial trisomy/tetrasomy of the short arm of chromosome 18" "" + "breast-ovarian cancer, familial, susceptibility to, 4" "Any hereditary breast ovarian cancer syndrome in which the cause of the disease is a mutation in the RAD51D gene." "" + "myopia, high, with cataract and vitreoretinal degeneration" "" + "hydatidiform mole, recurrent, 2" "Any complete hydatidiform mole in which the cause of the disease is a mutation in the KHDC3L gene." "" + "chromosome 15q25 deletion syndrome" "" + "Wolfram-like syndrome" "Wolfram-like syndrome is a rare endocrine disease characterized by the triad of adult-onset diabetes mellitus, progressive hearing loss (usually presenting in the first decade of life and principally of low to moderate frequencies), and/or juvenile-onset optic atrophy. Psychiatric (i.e. anxiety, depression, hallucinations) and sleep disorders, the only neurologic abnormalities observed in this disease, have been reported in rare cases. Unlike Wolfram syndrome, patients with Wolfram-like syndrome do not report endocrine or cardiac findings." "" + "neurodegeneration with brain iron accumulation 4" "Mitochondrial membrane protein-sssociated neurodegeneration (MPAN), also known as neurogeneration with brain iron accumulation (NBIA) due to C19orf12 mutations, is an autosomal recessive neurodegenerative disorder characterized by iron accumulation in specific regions of the brain, usually the basal ganglia, and associated with slowly progressive pyramidal (spasticity) and extrapyramidal (dystonia) signs, motor axonal neuropathy, optic atrophy, cognitive decline, and neuropsychiatric abnormalities." "" + "multiple mitochondrial dysfunctions syndrome 2" "Any fatal multiple mitochondrial dysfunctions syndrome in which the cause of the disease is a mutation in the BOLA3 gene." "" + "obsolete hypermethioninemia due to adenosine kinase deficiency" "" "true" + "Emery-Dreifuss muscular dystrophy 7, autosomal dominant" "Any autosomal dominant Emery-Dreifuss muscular dystrophy in which the cause of the disease is a mutation in the TMEM43 gene." "" + "EDICT syndrome" "EDICT (endothelial dystrophy-iris hypoplasia-congenital cataract-stromal thinning) syndrome is a very rare eye disorder representing a constellation of autosomal dominantly inherited ocular findings, including early-onset or congenital cataracts, corneal stromal thinning, early-onset keratoconus, corneal endothelial dystrophy, and iris hypoplasia." "" + "sclerosteosis 2" "Any sclerosteosis in which the cause of the disease is a mutation in the LRP4 gene." "" + "cognitive impairment with or without cerebellar ataxia" "" + "vesicoureteral reflux 4" "" + "vesicoureteral reflux 5" "" + "vesicoureteral reflux 6" "" + "pancreatic cancer, susceptibility to, 4" "Any familial pancreatic carcinoma in which the cause of the disease is a mutation in the BRCA1 gene." "" + "distal myopathy, Tateyama type" "Distal myopathy, Tateyama type is a rare, genetic, slowly progressive, distal myopathy disorder characterized by muscle atrophy and weakness limited to the small muscles of the hands and feet (in particular, thenar and hypothenar muscle atrophy), increased serum creatine kinase, and severely reduced caveolin-3 expression on muscle biopsy. Some patients may also show calf hypertrophy, pes cavus, and signs of muscle hyperexcitability." "" + "autosomal recessive spinocerebellar ataxia 12" "Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency is a rare autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome characterized by early-childhood onset of cerebellar ataxia associated with generalized tonic-clonic epilepsy and psychomotor development delay, dysarthria, gaze-evoked nystagmus and learning disability. Other features in some patients include upper motor neuron signs with leg spasticity and extensor plantar responses, and mild cerebellar atrophy on brain MRI." "" + "autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome" "" + "linear and whorled nevoid hypermelanosis" "Linear and whorled nevoid hypermelanosis (LWNH) is a rare skin condition characterized by swirling streaks of hyperpigmented (darkened) skin. The pigmentation follows the lines of Blashko and is mainly located on the trunk and limbs. It is present at birth or appears in the first few weeks of life. It typically progresses for one to two years and then stabilizes. Hyperpigmentation is usually the only symptom but there are isolated reports of other symptoms, involving mostly the central nervous system, musculoskeletal system, and heart. While most cases of LWNH are sporadic, apparent genetic transmission rarely has been described. A few people with LWNH have been diagnosed with chromosomal mosaicism." "" + "ovarian dysgenesis 3" "Any 46 XX gonadal dysgenesis in which the cause of the disease is a mutation in the PSMC3IP gene." "" + "Pitt-Hopkins-like syndrome 2" "Any Pitt-Hopkins-like syndrome in which the cause of the disease is a mutation in the NRXN1 gene." "" + "Feingold syndrome type 2" "Feingold syndrome type 2 (FS2) is a rare inherited malformation syndrome characterized by skeletal abnormalities and mild intellectual disabilities similar to those seen in Feingold syndrome type 1 (FS1) but that lacks the manifestations of gastrointestinal atresia and short palpebral fissures." "" + "BAP1-related tumor predisposition syndrome" "BAP1-related tumor predisposition syndrome (TPDS) is an inherited cancer-predisposing syndrome, associated with germline mutations in BAP1 tumor suppressor gene. The most commonly observed cancer types include uveal melanoma, malignant mesothelioma, renal cell carcinoma, lung, ovarian, pancreatic, breast cancer and meningioma, with variable age of onset. Common cutaneous manifestations include malignant melanoma, basal cell carcinoma and benign melanocytic BAP1-mutated atypical intradermal tumors (MBAIT) presenting as multiple skin-coloured to reddish-brown dome-shaped to pedunculated, well-circumscribed papules with an average size of 5 mm, histologically predominantly composed of epithelioid melanocytes with abundant amphophilic cytoplasm, prominent nucleoli and large, vesicular nuclei that vary substantially in size and shape." "" + "inflammatory skin and bowel disease, neonatal, 1" "Any neonatal inflammatory skin and bowel disease in which the cause of the disease is a mutation in the ADAM17 gene." "" + "neonatal inflammatory skin and bowel disease" "Neonatal inflammatory skin and bowel disease is a rare, life-threatening, autoinflammatory syndrome with immune deficiency disorder characterized by early-onset, life-long inflammation, affecting the skin and bowel, associated with recurrent infections. Patients present perioral and perianal psoriasiform erythema and papular eruption with pustules, failure to thrive associated with chronic malabsorptive diarrhea, intercurrent gastrointestinal infections and feeding troubles, as well as absent, short or broken hair and trichomegaly. Recurrent cutaneous and pulmonary infections lead to recurrent blepharitis, otitis externa and bronchiolitis." "" + "intellectual disability, autosomal recessive 31" "" + "colorectal cancer, hereditary nonpolyposis, type 6" "Any hereditary nonpolyposis colon cancer in which the cause of the disease is a mutation in the TGFBR2 gene." "" + "chromosome 2P16.3 deletion syndrome" "" + "intellectual disability, autosomal recessive 29" "" + "arthrogryposis, distal, type 1B" "" + "colorectal cancer, hereditary nonpolyposis, type 4" "Any hereditary nonpolyposis colon cancer in which the cause of the disease is a mutation in the PMS2 gene." "" + "pancreatic triacylglycerol lipase deficiency" "An autosomal recessive disorder caused by mutation(s) in the PNLIP gene, encoding pancreatic triacylglycerol lipase. The condition is characterized by absent or reduced pancreatic lipase." "" + "disorder of lipid absorption and transport" "" + "obsolete MRT32" "" "true" + "intellectual disability, autosomal recessive 27" "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the LINS1 gene." "" + "intellectual disability, autosomal recessive 33" "" + "intellectual disability, autosomal recessive 30" "" + "intellectual disability, autosomal recessive 19" "" + "intellectual disability, autosomal recessive 23" "" + "intellectual disability, autosomal recessive 24" "" + "intellectual disability, autosomal recessive 25" "" + "intellectual disability, autosomal recessive 28" "" + "colorectal cancer, hereditary nonpolyposis, type 5" "Any hereditary nonpolyposis colon cancer in which the cause of the disease is a mutation in the MSH6 gene." "" + "peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome" "" + "surfactant metabolism dysfunction, pulmonary, 5" "Any hereditary pulmonary alveolar proteinosis in which the cause of the disease is a mutation in the CSF2RB gene." "" + "dengue virus, susceptibility to" "" + "mannose-binding lectin deficiency" "" + "amyotrophic lateral sclerosis type 16" "Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the SIGMAR1 gene." "" + "aortic aneurysm, familial abdominal, 4" "" + "asphyxiating thoracic dystrophy 5" "Any Jeune syndrome in which the cause of the disease is a mutation in the WDR19 gene." "" + "nephronophthisis 13" "A nephronophthisis that has material basis in homozygous or compound heterozygous mutation in the WDR19 gene on chromosome 4p14." "" + "cranioectodermal dysplasia 4" "" + "complement component 4b deficiency" "Any classic complement early component deficiency in which the cause of the disease is a mutation in the C4B gene." "" + "complement component 4a deficiency" "Any classic complement early component deficiency in which the cause of the disease is a mutation in the C4A gene." "" + "hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism" "Any leukodystrophy in which the cause of the disease is a mutation in the POLR3B gene." "" + "hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome" "Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome is characterised by the association of demyelinating leukodystrophy with progressive cerebellar ataxia, hypogonadotropic hypogonadism and hypodontia." "" + "bacteremia, susceptibility to, 1" "Any bacteremia, susceptibility in which the cause of the disease is a mutation in the TIRAP gene." "" + "bacteremia, susceptibility to, 2" "Any bacteremia, susceptibility in which the cause of the disease is a mutation in the CISH gene." "" + "colorectal cancer, hereditary nonpolyposis, type 7" "Any hereditary nonpolyposis colon cancer in which the cause of the disease is a mutation in the MLH3 gene." "" + "encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1" "" + "encephalopathy due to mitochondrial and peroxisomal fission defect" "" + "pregnancy loss, recurrent, susceptibility to, 1" "Any pregnancy loss, recurrent, susceptibility in which the cause of the disease is a mutation in the F5 gene." "" + "pregnancy loss, recurrent, susceptibility to, 2" "Any pregnancy loss, recurrent, susceptibility in which the cause of the disease is a mutation in the F2 gene." "" + "pregnancy loss, recurrent, susceptibility to, 3" "Any pregnancy loss, recurrent, susceptibility in which the cause of the disease is a mutation in the ANXA5 gene." "" + "MEGF10-Related Myopathy" "" + "glucocorticoid therapy, response to" "" + "accelerated tumor formation, susceptibility to" "" + "microphthalmia, syndromic 11" "Any syndromic microphthalmia in which the cause of the disease is a mutation in the VAX1 gene." "" + "microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome" "Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome is a rare, genetic congenital anomalies/dysmorphic syndrome characterized by growth failure, global developmental delay, profound intellectual disability, autistic behaviors, acquired second-degree heart block with bradycardia and vasomotor instability. Hands and feet present with long fusiform fingers, campto-clinodactyly and crowded toes while craniofacial dysmorphism includes microcephaly, broad forehead, thin eyebrows, upslanting palpebral fissures, large ears with prominent antihelix, prominent nose, long philtrum, thin upper lip vermillion and prominent lower lip. Neurological signs include hypotonia, brisk reflexes, dystonic-like movements and truncal ataxia and imaging shows cerebellar hypoplasia and simplified gyral pattern." "" + "myopathy, centronuclear, 3" "Any autosomal dominant centronuclear myopathy in which the cause of the disease is a mutation in the MYF6 gene." "" + "hereditary spastic paraplegia 46" "A rare, complex type of hereditary spastic paraplegia characterized by an onset, in infancy or childhood, of the typical signs of spastic paraplegia (i.e. spastic gait and weakness of the lower limbs) associated with a variety of additional manifestations including upper limb spasticity and weakness, pseudobulbar dysarthria, bladder dysfunction, cerebellar ataxia, cataracts, and cognitive impairment that can progress to dementia. Brain imaging may show thinning of the corpus callosum and mild atrophy of the cerebrum and cerebellum. SPG46 is due to mutations in the GBA2 gene (9p13.2) encoding non-lysosomal glucosylceramidase." "" + "autosomal recessive nonsyndromic hearing loss 96" "An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 1p36.31-p36.13." "" + "chilblain lupus 2" "Any chilblain lupus in which the cause of the disease is a mutation in the SAMHD1 gene." "" + "lethal occipital encephalocele-skeletal dysplasia syndrome" "Lethal occipital encephalocele-skeletal dysplasia syndrome is a rare, genetic, bone development disorder characterized by occipital and parietal bone hypoplasia leading to occipital encephalocele, calvarial mineralization defects, craniosynostosis, radiohumeral fusions, oligodactyly and other skeletal anomalies (arachnodactyly, terminal phalangeal aplasia of the thumbs, bilateral absence of the great toes, pronounced bilateral angulation of femora, shortened limbs, advanced osseous maturation). Fetal death in utero is associated." "" + "familial temporal lobe epilepsy 5" "A temporal lobe epilepsy that has material basis in heterozygous mutation in the CPA6 gene on chromosome 8q13." "" + "familial mesial temporal lobe epilepsy with febrile seizures" "" + "autosomal systemic lupus erythematosus type 16" "An instance of systemic lupus erythematosus (disease) that is caused by mutations in DNASE1L3." "" + "cataract 37" "A cataract that has material basis in variation in the region 12q24.2-q24.3." "" + "Joubert syndrome 14" "Any Joubert syndrome in which the cause of the disease is a mutation in the TMEM237 gene." "" + "ventricular septal defect 1" "Any ventricular septal defect in which the cause of the disease is a mutation in the GATA4 gene." "" + "atrioventricular septal defect 4" "Any atrioventricular septal defect in which the cause of the disease is a mutation in the GATA4 gene." "" + "ventricular septal defect 2" "Any ventricular septal defect in which the cause of the disease is a mutation in the CITED2 gene." "" + "ventricular septal defect 3" "Any ventricular septal defect in which the cause of the disease is a mutation in the NKX2-5 gene." "" + "atrial septal defect 8" "Any atrial heart septal defect in which the cause of the disease is a mutation in the CITED2 gene." "" + "cutis laxa, autosomal dominant 2" "Any autosomal dominant cutis laxa in which the cause of the disease is a mutation in the FBLN5 gene." "" + "hypoplastic left heart syndrome 2" "Any hypoplastic left heart syndrome in which the cause of the disease is a mutation in the NKX2-5 gene." "" + "Charcot-Marie-Tooth disease axonal type 2P" "Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the LRSAM1 gene." "" + "cutis laxa, autosomal recessive, type 1B" "An autosomal recessive cutis laxa type I characterized by disturbed elastic fiber formation resulting in severe systemic connective tissue abnormalities that has material basis in homozygous or compound heterozygous mutation in the EFEMP2 gene on chromosome 11q13." "" + "PYCR1-related de Barsy syndrome" "Any de Barsy syndrome in which the cause of the disease is a mutation in the PYCR1 gene." "" + "hypertrophic osteoarthropathy, primary, autosomal recessive, 2" "Any primary hypertrophic osteoarthropathy in which the cause of the disease is a mutation in the SLCO2A1 gene." "" + "congenital nongoitrous hypothryoidism 6" "Any hypothyroidism, congenital, nongoitrous in which the cause of the disease is a mutation in the THRA gene." "" + "Charcot-Marie-Tooth disease dominant intermediate E" "Autosomal dominant intermediate Charcot-Marie-Tooth disease type E is characterised by the association of Charcot-Marie-Tooth disease (hereditary peripheral neuropathy) with nephropathy. So far, around 15 cases have been described. All patients had proteinuria (with or without microhematuria) at onset and some patients presented with nephrotic syndrome. In the majority of cases, pathological studies revealed glomerulosclerosis. The mode of transmission is unknown." "" + "melanoma, cutaneous malignant, susceptibility to, 8" "An inherited cancer-predisposing syndrome due to a gain-of-function germline mutation in the MITF gene, associated with a higher incidence of amelanotic and nodular melanoma, multiple primary melanomas and increase in nevus number and size. It may also predispose to co-occurring melanoma and renal cell carcinoma and to pancreatic cancer." "" + "congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome" "" + "childhood encephalopathy due to thiamine pyrophosphokinase deficiency" "" + "lipoic acid synthetase deficiency" "Lipoic acid synthetase deficiency is a rare condition that affects the mitochondria. Mitochondria are tiny structures found in almost every cell of the body. They are responsible for creating most of the energy necessary to sustain life and support growth. People affected by this condition generally experience early-onset lactic acidosis, severe encephalopathy, seizures, poor growth, hypotonia, and developmental delay. It is caused by changes (mutations) in the LIAS gene and it is inherited in an autosomal recessive pattern. Treatment is based on the signs and symptoms present in each person." "" + "Joubert syndrome 15" "Any Joubert syndrome in which the cause of the disease is a mutation in the CEP41 gene." "" + "Joubert syndrome 16" "Any Joubert syndrome in which the cause of the disease is a mutation in the TMEM138 gene." "" + "coronary heart disease, susceptibility to, 6" "Any coronary artery disease in which the cause of the disease is a mutation in the MMP3 gene." "" + "familial cold autoinflammatory syndrome 3" "PLCG2-associated antibody deficiency and immune dysregulation is a rare, hereditary, immune deficiency with skin involvement characterized by early-onset cold urticaria after generalized exposure to cold air or evaporative cooling and not after contact with cold objects. Additional immunologic abnormalities are often present - antibody deficiency, recurrent infections, autoimmune disease and symptomatic allergic disease." "" + "autoimmune lymphoproliferative syndrome type 4" "RAS-associated autoimmune leukoproliferative disease (RALD) is a rare genetic disorder characterized by monocytosis, autoimmune cytopenias, lymphoproliferation, hepatosplenomegaly, and hypergammaglobulinemia." "" + "arterial calcification, generalized, of infancy, 2" "Any arterial calcification of infancy in which the cause of the disease is a mutation in the ABCC6 gene." "" + "atrioventricular septal defect 5" "Any atrioventricular septal defect in which the cause of the disease is a mutation in the GATA6 gene." "" + "atrial septal defect 9" "Any atrial heart septal defect in which the cause of the disease is a mutation in the GATA6 gene." "" + "transient infantile hypertriglyceridemia and hepatosteatosis" "" + "congenital cataract-hearing loss-severe developmental delay syndrome" "" + "porencephaly 2" "Any porencephaly in which the cause of the disease is a mutation in the COL4A2 gene." "" + "trigonocephaly 2" "Any isolated trigonocephaly in which the cause of the disease is a mutation in the FREM1 gene." "" + "thrombomodulin-related bleeding disorder" "" + "spastic ataxia 5" "Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome is a rare hereditary spastic ataxia disorder characterized by childhood onset of slowly progressive lower limb spastic paraparesis and cerebellar ataxia (with dysarthria, swallowing difficulties, motor degeneration), associated with sensorimotor neuropathy (including muscle weakness and distal amyotrophy in lower extremities) and progressive myoclonic epilepsy. Ocular signs (ptosis, oculomotor apraxia), dysmetria, dysdiadochokinesia, dystonic movements and myoclonus may also be associated." "" + "pseudohypoaldosteronism type 2B" "Any pseudohypoaldosteronism type 2 in which the cause of the disease is a mutation in the WNK4 gene." "" + "pseudohypoaldosteronism type 2C" "Any pseudohypoaldosteronism type 2 in which the cause of the disease is a mutation in the WNK1 gene." "" + "Wiskott-Aldrich syndrome 2" "Any Wiskott-Aldrich syndrome in which the cause of the disease is a mutation in the WIPF1 gene." "" + "retinitis pigmentosa 63" "A retinitis pigmentosa that has material basis in variation in the chromosome region 6q23." "" + "pseudohypoaldosteronism type 2D" "Any pseudohypoaldosteronism type 2 in which the cause of the disease is a mutation in the KLHL3 gene." "" + "pseudohypoaldosteronism type 2E" "Any pseudohypoaldosteronism type 2 in which the cause of the disease is a mutation in the CUL3 gene." "" + "microphthalmia, isolated, with coloboma 7" "Any microphthalmia, isolated, with coloboma in which the cause of the disease is a mutation in the ABCB6 gene." "" + "lethal neonatal spasticity-epileptic encephalopathy syndrome" "" + "intellectual disability, autosomal recessive 34" "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the CRADD gene." "" + "cone-rod dystrophy 16" "Any cone-rod dystrophy in which the cause of the disease is a mutation in the C8orf37 gene." "" + "psychomotor retardation, epilepsy, and craniofacial dysmorphism" "" + "Usher syndrome type 3B" "Any Usher syndrome in which the cause of the disease is a mutation in the HARS gene." "" + "DDOST-CDG" "DDOST-CDG is a form of congenital disorders of N-linked glycosylation characterized by failure to thrive, developmental delay, hypotonia, strabismus and hepatic dysfunction. The disease is caused by mutations in the gene DDOST (1p36.1)." "" + "mirror movements 2" "Any familial congenital mirror movements in which the cause of the disease is a mutation in the RAD51 gene." "" + "thrombophilia due to protein S deficiency, autosomal recessive" "" + "intracerebral hemorrhage" "Bleeding into one or both cerebral hemispheres including the basal ganglia and the cerebral cortex. It is often associated with hypertension and craniocerebral trauma." "" + "encephalomyopathy, mitochondrial, due to voltage-dependent anion channel deficiency" "" + "thrombocythemia 3" "Familial thrombocytosis in which the cause of the disease is a mutation in the JAK2 gene." "" + "fibrochondrogenesis 2" "Any fibrochondrogenesis in which the cause of the disease is a mutation in the COL11A2 gene." "" + "chromosome 17q12 duplication syndrome" "17q12 microduplication syndrome is a rare chromosomal anomaly with variable phenotypic expression and reduced penetrance associated with developmental delay, mild to severe intellectual disability, speech delay, seizures, microcephaly, behavioral abnormalities, autism spectrum disorder, eye or vision defects (such as strabismus, astigmatism, amblyopia, cataract, coloboma, and microphthalmia), non-specific dysmorphic features, hypotonia, cardiac and renal anomalies, schizophrenia." "" + "chromosome 17q12 deletion syndrome" "17q12 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 17 characterized by renal cystic disease, maturity onset diabetes of the young type 5, and neurodevelopmental disorders, such as cognitive impairment, developmental delay (particularly of speech), autistic traits and autism spectrum disorder. Mullerian aplasia in females, macrocephaly, mild facial dysmorphism (high forehead, deep set eyes and chubby cheeks) and transcient hypercalcaemia have also been reported." "" + "chromosome 16q22 deletion syndrome" "" + "efavirenz, poor metabolism of" "" + "Ehlers-Danlos syndrome, kyphoscoliotic and deafness type" "Ehlers-Danlos syndrome, kyphoscoliotic and deafness type is a form of Ehlers-Danlos syndrome, characterized by severe generalized hypotonia at birth with severe early-onset kyphoscolosis along with joint hypermobility (without contractures) leading to recurrent dislocations, and sensorineural hearing impairment." "" + "developmental and epileptic encephalopathy, 13" "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SCN8A gene." "" + "undetermined early-onset epileptic encephalopathy" "A rare infantile epilepsy syndrome characterized by early onset of seizures of variable type and severity, potentially associated with a spectrum of clinical signs and symptoms including delay or lack of psychomotor development, intellectual disability, poor or absent speech development, behavioral abnormalities, hypotonia, movement disorders, spasticity, microcephaly, and dysmorphic facial features, among others. Brain imaging findings are also variable and may include cerebral atrophy or white matter abnormalities." "" + "infantile cerebellar-retinal degeneration" "Infantile cerebellar retinal degeneration (ICRD) is a genetic condition present from birth (congenital) that involves the brain and eyes. Individuals with this condition usually develop symptoms around six months of age including developmental delays, low muscle tone (hypotonia), and seizures. Other symptoms may include head bobbing, abnormal muscle twitching and movement, and loss of brain cells in the main part of the brain called the cerebellum. Eye findings in individuals with this condition may include retinal degeneration (weakening of the layer of tissue in the back of the eye that senses light), strabismus (crossed eyes), and nystagmus (fast, uncontrollable movements of the eyes). ICRD is caused by mutations in the ACO2 gene and is inherited in an autosomal recessive manner. While there is still no cure for this condition, treatment options will depend on the type and severity of symptoms." "" + "leukoencephalopathy with calcifications and cysts" "" + "obsolete intellectual disability, autosomal dominant 12" "" "true" + "intellectual disability, autosomal dominant 13" "Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the DYNC1H1 gene." "" + "familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome" "" + "congenital stationary night blindness 1E" "Any congenital stationary night blindness in which the cause of the disease is a mutation in the GPR179 gene." "" + "Maffucci syndrome" "Maffucci syndrome is a very rare genetic bone and skin disorder characterized by multiple enchondromas, leading to bone deformities, combined with multiple dark, irregularly shaped hemangiomas or less commonly lymphangiomas." "" + "cerebellar ataxia, neuropathy, and vestibular areflexia syndrome" "" + "COG6-CGD" "" + "combined oxidative phosphorylation defect type 9" "Combined oxidative phosphorylation defect type 9 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by initially normal growth and development followed by the infantile-onset of failure to thrive, psychomotor delay, poor feeding, dyspnea, severe hypertrophic cardiomyopathy and hepatomegaly. Laboratory studies report increased plasma lactate and alanine, abnormal liver enzymes and decreased activity of mitochondrial respiratory chain complexes I, III, IV, and V." "" + "Baraitser-winter syndrome 2" "Any Baraitser-Winter cerebrofrontofacial syndrome in which the cause of the disease is a mutation in the ACTG1 gene." "" + "dystonia 21" "Primary dystonia, DYT21 type is a subtype of mixed dystonia with a late-onset form of pure torsion dystonia." "" + "podoconiosis, susceptibility to" "" + "FGFR2-related bent bone dysplasia" "" + "obsolete palmoplantar keratoderma, mutilating, with periorificial keratotic plaques" "" "true" + "preeclampsia/eclampsia 5" "Any preeclampsia in which the cause of the disease is a mutation in the CORIN gene." "" + "trichohepatoenteric syndrome 2" "Any tricho-hepato-enteric syndrome in which the cause of the disease is a mutation in the SKIV2L gene." "" + "intellectual disability, autosomal dominant 14" "Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the ARID1A gene." "" + "intellectual disability, autosomal dominant 15" "Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the SMARCB1 gene." "" + "intellectual disability, autosomal dominant 16" "Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the SMARCA4 gene." "" + "acrodysostosis 2 with or without hormone resistance" "Any acrodysostosis in which the cause of the disease is a mutation in the PDE4D gene." "" + "autosomal dominant nonsyndromic hearing loss 4B" "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the CEACAM16 gene." "" + "congenital diarrhea 6" "Any congenital diarrhea in which the cause of the disease is a mutation in the GUCY2C gene." "" + "autosomal recessive nonsyndromic hearing loss 86" "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the TBC1D24 gene." "" + "hyperekplexia 3" "Any hereditary hyperekplexia in which the cause of the disease is a mutation in the SLC6A5 gene." "" + "hyperekplexia 2" "Any hereditary hyperekplexia in which the cause of the disease is a mutation in the GLRB gene." "" + "UV-sensitive syndrome 2" "Any UV-sensitive syndrome in which the cause of the disease is a mutation in the ERCC8 gene." "" + "keratoconus 5" "" + "keratoconus 6" "" + "keratoconus 8" "" + "keratoconus 7" "" + "UV-sensitive syndrome 3" "Any UV-sensitive syndrome in which the cause of the disease is a mutation in the UVSSA gene." "" + "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 7" "Any muscular dystrophy-dystroglycanopathy, type A in which the cause of the disease is a mutation in the ISPD gene." "" + "familial steroid-resistant nephrotic syndrome with sensorineural deafness" "" + "deafness-encephaloneuropathy-obesity-valvulopathy syndrome" "Deafness-encephaloneuropathy-obesity-valvulopathy syndrome is a rare mitochondrial disease with marked clinical variability typically characterized by encephalomyopathy, kidney disease (nephrotic syndrome), optic atrophy, early-onset deafness, pancytopenia, obesity, and cardiac disease (valvulopathy). Additionally, macrocephaly, intellectual disability, hyperlactatemia, elevated lactate/pyruvate ratio, insulin-dependent diabetes, livedo reticularis, liver dysfunction and seizures have also been associated." "" + "coenzyme Q10 deficiency, primary, 3" "Any coenzyme Q10 deficiency in which the cause of the disease is a mutation in the PDSS2 gene." "" + "hereditary sensory and autonomic neuropathy type 6" "Any hereditary sensory and autonomic neuropathy in which the cause of the disease is a mutation in the DST gene." "" + "encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome" "Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome is a rare mitochondrial disease due to a defect in coenzyme Q10 biosynthesis that manifests with a broad spectrum of signs and symptoms which may include: neonatal lactic acidosis, global developmental delay, tonus disorder, seizures, reduced spontaneous movements, ventricular hypertrophy, bradycardia, renal tubular dysfunction with massive lactic acid excretion in urine, severe biochemical defect of respiratory chain complexes II/III when assayed together and deficiency of coenzyme Q10 in skeletal muscle. Cerebral and cerebellar atrophy can be seen on magnetic resonance imaging and multiple choroid plexus cysts and symmetrical hyperechoic signal alterations in basal ganglia have been observed on ultrasound." "" + "stuttering, familial persistent, 3" "" + "cortisone reductase deficiency 2" "Decreased activity of the enzyme 11-beta-hydroxysteroid dehydrogenase type 1 due to inactivating mutation(s) in the HSD11B1 gene. The condition is characterized by hyperandrogenism as a result of increased adrenocorticotropic hormone stimulation of the adrenal gland due to failure of cortisol-mediated down-regulation, and is clinically indistinguishable from H6PD deficiency." "" + "intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency" "Any meconium ileus in which the cause of the disease is a mutation in the GUCY2C gene." "" + "stuttering, familial persistent, 4" "" + "auriculocondylar syndrome 2" "Any auriculocondylar syndrome in which the cause of the disease is a mutation in the PLCB4 gene." "" + "peripartum cardiomyopathy, susceptibility to" "" + "chromosome 16p11.2 duplication syndrome" "Proximal 16p11.2 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from a partial duplication of the short arm of chromosome 16 characterized by developmental delay and intellectual disability of a highly variable degree, autism spectrum, obsessive-compulsive, attention deficit hyperactivity disorder, speech articulation abnormalities, muscular hypotonia, tremor, hyper- or hyporeflexia, seizures, microcephaly, neuroimaging abnormalities, decreased body mass index and schizophrenia or bipolar disorder later on in life." "" + "dilated cardiomyopathy 2B" "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the GATAD1 gene." "" + "microcephaly 8, primary, autosomal recessive" "Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CEP135 gene." "" + "obsolete periodic fever, menstrual cycle-dependent" "" "true" + "autosomal dominant aplasia and myelodysplasia" "" + "hypertrophic cardiomyopathy 21" "A hypertrophic cardiomyopathy associated that has material basis in region 7p12.1-q21 variation." "" + "pontocerebellar hypoplasia type 1B" "Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the EXOSC3 gene." "" + "primary ciliary dyskinesia 17" "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CCDC103 gene." "" + "influenza, severe, susceptibility to" "" + "hypertelorism and other facial dysmorphism, brachydactyly, genital abnormalities, intellectual disability, and recurrent inflammatory episodes" "" + "alar cleft, isolated" "" + "pontine tegmental cap dysplasia" "Pontine tegmental cap dysplasia (PTCD) is a non-progressive neurological disorder characterized by significant developmental delay, cranial nerve dysfunction, and malformation of the hindbrain.Individuals with PTCD may have a collection of medical and developmental problems including: hearing impairment, ataxia,language and speech disorders, feeding and swallowingdifficulties, heartmalformations and facial paralysis.The severity of themedical problems varies among patients. Some patients have a good long-term prognosiswith normal intelligence and partial speech. The cause of PTCD has not been identified. Treatment is focused on managing the underlying symptoms and may include interventions such as cochlear implantation." "" + "posterior fossa malformation" "" + "cataract 38" "Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the AGK gene." "" + "idiopathic membranous glomerulonephritis" "Idiopathic membranous glomerulonephritis (IMG) is a primary glomerular disease characterized by proteinuria, usually in the nephrotic range, with preserved renal function." "" + "obsolete amyotrophic lateral sclerosis type 17" "" "true" + "immunodeficiency, common variable, 7" "" + "combined immunodeficiency due to LRBA deficiency" "" + "Cornelia de Lange syndrome 4" "Any Cornelia de Lange syndrome in which the cause of the disease is a mutation in the RAD21 gene." "" + "mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency" "Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency is a rare mitochondrial oxidative phosphorylation disorder with complex I and IV deficiency characterized by lactic acidosis, hypotonia, hypertrophic cardiomyopathy and global developmental delay. Other clinical features include feeding difficulties, failure to thrive, seizures, optic atrophy and ataxia." "" + "neuronal ceroid lipofuscinosis 11" "Any neuronal ceroid lipofuscinosis in which the cause of the disease is a mutation in the GRN gene." "" + "brown-Vialetto-van Laere syndrome 2" "Any Brown-Vialetto-van Laere syndrome in which the cause of the disease is a mutation in the SLC52A2 gene." "" + "porokeratosis 7, disseminated superficial actinic type" "" + "adenine phosphoribosyltransferase deficiency" "Adenine phosphoribosyltransferase (APRT) deficiency is a rare autosomal recessive (AR) disorder characterized by the formation and hyperexcretion of 2,8-dihydroxyadenine (2,8-DHA) in urine, causing urolithiasis and crystalline nephropathy." "" + "TMEM165-CDG" "TMEM165-CDG is a form of congenital disorders of N-linked glycosylation characterized by a psychomotor delay-dysmorphism (pectus carinatum, dorsolumbar kyphosis and severe sinistroconvex scoliosis, short distal phalanges, genua vara, pedes planovalgi syndrome) with postnatal growth deficiency and major spondylo-, epi-, and metaphyseal skeletal involvement. Additional features include facial dysmorphism (midface hypoplasia, internal strabism of the right eye, low-set ears, moderately high arched palate, small teeth), nephrotic syndrome, cardiac defects, and feeding problems. The disease is caused by mutations in the gene TMEM165 (4q12)." "" + "Seckel syndrome 6" "Any Seckel syndrome in which the cause of the disease is a mutation in the CEP63 gene." "" + "prostate cancer, hereditary, 2" "Any familial prostate cancer in which the cause of the disease is a mutation in the ELAC2 gene." "" + "IMAGe syndrome" "IMAGe syndrome is characterized by the association of Intrauterine growth retardation, Metaphyseal dysplasia (and short limbs), Adrenal hypoplasia congenita, and Genital anomalies. It has been described in less than 20 cases. The patients also present with dysmorphic features (frontal bossing, broad nasal bridge, low-set ears). In boys, genital anomalies include bilateral cryptorchidism, hypospadias, micropenis, and hypogonadotropic hypogonadism. This syndrome is likely to be transmitted as an autosomal recessive trait." "" + "glucocorticoid deficiency 4" "Any familial glucocorticoid deficiency in which the cause of the disease is a mutation in the NNT gene." "" + "3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome" "Any 3-methylglutaconic aciduria in which the cause of the disease is a mutation in the SERAC1 gene." "" + "basal cell carcinoma, susceptibility to, 7" "Any skin basal cell carcinoma in which the cause of the disease is a mutation in the TP53 gene." "" + "mitochondrial pyruvate carrier deficiency" "An autosomal recessive metabolic disorder characterized by delayed psychomotor development and lactic acidosis with a normal lactate/pyruvate ratio resulting from impaired mitochondrial pyruvate oxidation." "" + "pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1" "Any pulmonary fibrosis and/or bone marrow failure, Telomere-related in which the cause of the disease is a mutation in the TERT gene." "" + "pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2" "" + "facial paresis, hereditary congenital, 3" "Any congenital hereditary facial paralysis-variable hearing loss syndrome in which the cause of the disease is a mutation in the HOXB1 gene." "" + "congenital nephrotic syndrome - interstitial lung disease - epidermolysis bullosa syndrome" "Congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome is a life-threatening multiorgan disorder which develops in the first months of life, presenting with respiratory distress and proteinuria in the nephrotic range, and leading to severe interstitial lung disease and renal failure. Some patients additionally display cutaneous alterations, ranging from blistering and skin erosions to an epidermolysis bullosa-like phenotype, with toe nail dystrophy and sparse hair." "" + "hyperphosphatasia with intellectual disability syndrome 2" "Any hyperphosphatasia-intellectual disability syndrome in which the cause of the disease is a mutation in the PIGO gene." "" + "congenital myasthenic syndrome 13" "Any congenital myasthenic syndromes with glycosylation defect in which the cause of the disease is a mutation in the DPAGT1 gene." "" + "neuronopathy, distal hereditary motor, type 5B" "Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the REEP1 gene." "" + "neuronopathy, distal hereditary motor, type 5" "" + "neuronopathy, distal hereditary motor, type 5A" "" + "Malan overgrowth syndrome" "Malan overgrowth syndrome is a multiple congenital anomalies syndrome characterized by moderate postnatal overgrowth, macrocephaly, craniofacial dysmorphism (including high forehead and anterior hairline, downslanting palpebral fissures, prominent chin), developmental delay, and intellectual disability. Additional variable manifestations include unusual behavior, with or without autistic traits, as well as ocular (e.g. strabismus, nystagmus, optic disc pallor/hypoplasia), gastrointestinal (e.g. vomiting, chronic diarrhea, constipation), musculoskeletal (e.g. scoliosis and pectus excavatum), hand/foot (e.g. long, tapered fingers) and central nervous system (e.g. slightly enlarged ventricles) anomalies." "" + "nonprogressive cerebellar atxia with intellectual disability" "Non-progressive cerebellar ataxia with intellectual deficit is a rare subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1) characterized by the onset in infancy of cerebellar ataxia, neonatal hypotonia (in some), mild developmental delay and, in later life, intellectual disability. Less common features include dysarthria, dysmetria and dysmorphic facial features (long face, bulbous nose long philtrum, thick lower lip and pointed chin)." "" + "heterotaxy, visceral, 6, autosomal" "" + "tremor, hereditary essential, 4" "Any essential tremor in which the cause of the disease is a mutation in the FUS gene." "" + "short stature-optic atrophy-Pelger-HuC+t anomaly syndrome" "" + "congenital myopathy with internal nuclei and atypical cores" "Congenital myopathy with internal nuclei and atypical cores is a rare genetic skeletal muscle disease characterized by neonatal hypotonia, distal more than proximal muscle weakness, progressive exercise intolerance with prominent myalgias, and mild-to-moderate overall motor impairment with preserved ambulation. Face, extraocular, cardiac, and respiratory muscles are unaffected. Mild cognitive impairment is also noted in most patients." "" + "amyotrophic lateral sclerosis type 18" "Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the PFN1 gene." "" + "C3 glomerulonephritis" "Glomerulonephritis characterized by C3 accumulation with little or absent deposition of immunoglobulin, in the absence of ultrastructural electron-dense transformation seen in dense deposit disease." "" + "multiple sclerosis, susceptibility to, 5" "Any multiple sclerosis, susceptibility to in which the cause of the disease is a mutation in the TNFRSF1A gene." "" + "short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome" "" + "Adams-Oliver syndrome 3" "Any Adams-Oliver syndrome in which the cause of the disease is a mutation in the RBPJ gene." "" + "Joubert syndrome 18" "Any Joubert syndrome in which the cause of the disease is a mutation in the TCTN3 gene." "" + "Loeys-Dietz syndrome 4" "Any Loeys-Dietz syndrome in which the cause of the disease is a mutation in the TGFB2 gene." "" + "karyomegalic interstitial nephritis" "Any interstitial nephritis in which the cause of the disease is a mutation in the FAN1 gene." "" + "Weill-Marchesani syndrome 3" "Any Weill-Marchesani syndrome in which the cause of the disease is a mutation in the LTBP2 gene." "" + "alternating hemiplegia of childhood 2" "Any alternating hemiplegia of childhood in which the cause of the disease is a mutation in the ATP1A3 gene." "" + "spermatogenic failure 10" "Any azoospermia in which the cause of the disease is a mutation in the SEPT12 gene." "" + "aortic valve disease 2" "Any aortic valve disease in which the cause of the disease is a mutation in the SMAD6 gene." "" + "nystagmus 7, congenital, autosomal dominant" "" + "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8" "Any muscular dystrophy-dystroglycanopathy, type A in which the cause of the disease is a mutation in the POMGNT2 gene." "" + "congenital muscular dystrophy caused by variation in POMGNT2" "Any congenital muscular dystrophy in which the cause of the disease is a variation in the POMGNT2 gene." "" + "autosomal recessive spinocerebellar ataxia 13" "Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency is a rare, genetic, slowly progressive neurodegenerative disease resulting from MGLUR1 deficiency characterized by global developmental delay (beginning in infancy), mild to severe intellectual deficit with poor or absent speech, moderate to severe stance and gait ataxia, pyramidal signs (e.g. hyperreflexia) and mild dysdiadochokinesia, dysmetria, tremors, and/or dysarthria. Oculomotor signs, such as nystagmus, strabismus, ptosis and hypometric saccades, may also be associated. Brain imaging reveals progressive, generalized, moderate to severe cerebellar atrophy, inferior vermian hypoplasia, and/or constitutionally small brain." "" + "autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome" "Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome is a rare, genetic, slowly progressive neurodegenerative disease characterized by delayed psychomotor development beginning in infancy, mild to profound intellectual disability, gait and stance ataxia, pyramidal signs (hyperreflexia, extensor plantar responses), dysarthria, and ocular abnormalities (e.g. nystagmus, oculomotor apraxia, abduction deficits, esotropia, ptosis). Brain imaging reveals progressive, generalized cerebellar atrophy, mild ventriculomegaly and, in some, retrocerebellar cysts." "" + "amelogenesis imperfecta hypomaturation type 2A4" "Any amelogenesis imperfecta in which the cause of the disease is a mutation in the ODAPH gene." "" + "bilateral generalized polymicrogyria" "Bilateral generalized polymicrogyria is a rare neurological disorder that affects the cerebral cortex (the outer surface of the brain). This is the most widespread form of polymicrogyria and typically affects the entire surface of the brain. Signs and symptoms include severe intellectual disability, problems with movement, and seizures that are difficult or impossible to treat. While the exact cause of bilateral generalized polymicrogyria is not fully understood, it is thought to be due to improper brain development during embryonic growth. Most cases appear to follow an autosomal recessive pattern of inheritance. Treatment is based on the signs and symptoms present in each person." "" + "microcephalic primordial dwarfism due to RTTN deficiency" "Microcephalic primordial dwarfism due to RTTN deficiency is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by primary microcephaly, profound short stature, moderate to severe intellectual disability, global developmental delay, craniofacial dysmorphism (e.g. sloping forehead, high and broad nasal bridge) and variable brain malformations, including simplified gyration, pachygyria, polymicrogyria, reduced sulcation, dysgenesis of corpus callosum and deformed ventricles. Renal anomalies, bilateral hearing loss, multiple joint contractures, severe failure to thrive and a sacral lesion cephalad to the gluteal crease have also been reported." "" + "thyrotoxic periodic paralysis, susceptibility to, 3" "" + "human herpesvirus 8, susceptibility to" "" + "hypogonadotropic hypogonadism 8 with or without anosmia" "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the KISS1R gene." "" + "hypogonadotropic hypogonadism 9 with or without anosmia" "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the NSMF gene." "" + "hypogonadotropic hypogonadism 10 with or without anosmia" "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the TAC3 gene." "" + "hypogonadotropic hypogonadism 11 with or without anosmia" "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the TACR3 gene." "" + "hypogonadotropic hypogonadism 12 with or without anosmia" "A hypogonadotropic hypogonadism that has material basis in homozygous mutation in the GNRH1 gene on chromosome 8p21." "" + "hypogonadotropic hypogonadism 13 with or without anosmia" "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the KISS1 gene." "" + "nephronophthisis 14" "Any nephronophthisis in which the cause of the disease is a mutation in the ZNF423 gene." "" + "nephronophthisis 15" "Any nephronophthisis in which the cause of the disease is a mutation in the CEP164 gene." "" + "distal tetrasomy 15q" "" + "15q overgrowth syndrome" "15q overgrowth syndrome is a rare partial autosomal trisomy/tetrasomy characterized by facial dysmorphism (long thin face, prominent forehead, down-slanting palpebral fissures, prominent nose with broad nasal bridge, prominent chin), pre- and postnatal overgrowth, renal anomalies (e.g. horseshoe kidney, renal agenesis, hydronephrosis), mild to severe learning difficulties and behavioral abnormalities. Additional features may include craniosynostosis and macrocephaly." "" + "epilepsy, idiopathic generalized, susceptibility to, 12" "" + "herpes simplex encephalitis, susceptibility to, 3" "Any herpes simplex encephalitis in which the cause of the disease is a mutation in the TRAF3 gene." "" + "herpes simplex encephalitis, susceptibility to, 4" "Any herpes simplex encephalitis in which the cause of the disease is a mutation in the TICAM1 gene." "" + "Seckel syndrome 7" "Microcephalic primordial dwarfism, Dauber type is a rare, genetic developmental defect during embryogenesis characterized by severe pre- and postnatal growth retardation, severe microcephaly, severe developmental delay and intelletual disability, severe adult short stature and facial dysmorphism (incl. hypotelorism, small ears, prominent nose). Other reported features include skeletal anomalies (Madelung deformity, clinodactyly, mild lumbar scoliosis, bilateral hip dysplasia) and seizures. Absence of thelarche and menarche is also associated." "" + "microcephaly 9, primary, autosomal recessive" "Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CEP152 gene." "" + "osteogenesis imperfecta type 13" "Any osteogenesis imperfecta in which the cause of the disease is a mutation in the BMP1 gene." "" + "methylmalonic acidemia with homocystinuria, type cblJ" "" + "peroxisome biogenesis disorder 3A (Zellweger)" "" + "dystonia 23" "Any dystonic disorder in which the cause of the disease is a mutation in the CACNA1B gene." "" + "autosomal recessive nonsyndromic hearing loss 98" "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the TSPEAR gene." "" + "peroxisome biogenesis disorder 4A (Zellweger)" "" + "peroxisome biogenesis disorder due to PEX6 defect" "Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX6 gene." "" + "peroxisome biogenesis disorder 4B" "" + "peroxisome biogenesis disorder 5A (Zellweger)" "" + "peroxisome biogenesis disorder due to PEX2 defect" "Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX2 gene." "" + "peroxisome biogenesis disorder 5B" "" + "combined immunodeficiency due to STK4 deficiency" "Combined immunodeficiency due to STK4 deficiency is a rare, genetic combined T and B cell immunodeficiency characterized by T- and B-cell lymphopenia, hypergammaglobulinemia and intermittent neutropenia. It presents with recurrent opportunistic viral, bacterial and fungal infections involving skin (cutaneous papillomatosis, molluscum contagiosum, skin abscesses, mucocutaneous candidiasis), upper and lower respiratory tract or septicemia. Other clinical features include autoimmune manifestations (autoimmune hemolytic anemia) and congenital heart defects (atrial septal defects, patent foramen ovale, mitral, triscupid and pulmonary valve insufficiency)." "" + "Usher syndrome type 1J" "Any Usher syndrome in which the cause of the disease is a mutation in the CIB2 gene." "" + "peroxisome biogenesis disorder 6A (Zellweger)" "" + "peroxisome biogenesis disorder due to PEX10 defect" "Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX10 gene." "" + "peroxisome biogenesis disorder 6B" "" + "peroxisome biogenesis disorder 7A (Zellweger)" "" + "peroxisome biogenesis disorder due to PEX26 defect" "Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX26 gene." "" + "peroxisome biogenesis disorder 7B" "" + "primary ciliary dyskinesia 18" "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAAF5 gene." "" + "metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria" "Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria is an extremely rare genetic disorder characterized by the unique association of enchondromatosis with D-2 hydroxyglutaric aciduria. Clinical features include enchondromatosis (with short stature, severe metaphyseal dysplasia and mild vertebral involvement), elevated levels of urinary 2-hydroxyglutaric acid and mild developmental delay." "" + "peroxisome biogenesis disorder 8A (Zellweger)" "" + "peroxisome biogenesis disorder due to PEX16 defect" "Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX16 gene." "" + "peroxisome biogenesis disorder 8B" "" + "autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation" "" + "mixed autoinflammatory and autoimmune syndrome" "True" + "peroxisome biogenesis disorder 9B" "" + "Zellweger spectrum disorders" "The most severe variant seen in the peroxisome biogenesis disorders that is characterized by neuronal migration defects in the brain, dysmorphic craniofacial features, profound hypotonia, neonatal seizures, and liver dysfunction." "" + "hypogonadotropic hypogonadism 15 with or without anosmia" "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the HS6ST1 gene." "" + "young adult-onset distal hereditary motor neuropathy" "Young adult-onset distal hereditary motor neuropathy is a rare autosomal recessive distal hereditary motor neuropathy characterized by slowly progressive muscular weakness, hypotonia and atrophy of the lower limbs, more pronounced distally, leading to paralysis, and loss of tendon reflexes. Additional features may include pes cavus and mild dysphonia. The upper limbs are relatively spared." "" + "peroxisome biogenesis disorder 10A (Zellweger)" "" + "peroxisome biogenesis disorder due to PEX3 defect" "Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX3 gene." "" + "peroxisome biogenesis disorder 11A (Zellweger)" "" + "peroxisome biogenesis disorder due to PEX13 defect" "Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX13 gene." "" + "peroxisome biogenesis disorder 11B" "" + "peroxisome biogenesis disorder 12A (Zellweger)" "" + "peroxisome biogenesis disorder due to PEX19 defect" "Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX19 gene." "" + "peroxisome biogenesis disorder 13A (Zellweger)" "" + "peroxisome biogenesis disorder due to PEX14 defect" "Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX14 gene." "" + "immunodeficiency 28" "Any primary immunodeficiency disease in which the cause of the disease is a mutation in the IFNGR2 gene." "" + "mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency" "Any autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency in which the cause of the disease is a mutation in the IL12B gene." "" + "autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency" "Autosomal recessive (AR) mendelian susceptibility to mycobacterial diseases (MSMD) due to a complete deficiency describes a group of genetic variants of MSMD comprised of MSMD due to complete interferon gamma receptor 1 (IFN-gammaR1) deficiency, complete IFN-gammaR2 deficiency, complete interleukin-12 subunit beta (IL12B) deficiency, complete interleukin-12 receptor subunit beta-1 (IL-12RB1) deficiency and complete ISG15 deficiency." "True" + "mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency" "Any autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency in which the cause of the disease is a mutation in the IL12RB1 gene." "" + "mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency" "Mendelian susceptibility to mycobacterial diseases (MSMD) due to partial STAT1 (signal transducer and activator of transcription 1) deficiency is a genetic variant of MSMD characterized by a partial defect in the interferon (IFN)-gamma pathway, leading to mild mycobacterial infections." "" + "autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency" "Autosomal dominant (AD) mendelian susceptibility to mycobacterial diseases (MSMD) due to a partial deficiency describes a group of variants of MSMD due to dominantly inherited partial deficiencies in interferon gamma receptor 1 (IFN-gammaR1), IFN-gammaR2, signal transducer and activator of transcription 1 (STAT1) or interferon regulator factor 8 (IRF8)." "True" + "mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency" "Mendelian susceptibility to mycobacterial diseases (MSMD) due to partial IRF8 (interferon regulatory factor 8) deficiency is a rare genetic variant of MSMD characterized by a selective susceptibility to relatively mild infections with bacillus Calmette-GuC)rin (BCG).." "" + "obsolete monocyte and dendritic cell deficiency, autosomal recessive" "" "true" + "Charcot-Marie-Tooth disease type 4F" "Charcot-Marie-Tooth disease type 4F (CMT4F) is a severe, demyelinating subtype of Charcot-Marie-Tooth disease type 4 characterized by the childhood onset of a slowly-progressing typical CMT phenotype (i.e. distal muscle weakness and atrophy, as well as pes cavus) that presents severe sensory loss (frequently with sensory ataxia), moderately to severely reduced motor nerve conduction velocities and almost invariable absence of sensory nerve action potentials, and delayed motor milestones." "" + "sinoatrial node dysfunction and deafness" "Sinoatrial node dysfunction and deafness is a rare genetic disease characterized by congenital severe to profound deafness with no evidence of vestibular dysfunction, associated with sinoatrial node dysfunction with pronounced bradycardia and increased variability of heart rate at rest and episodic syncopes that may be triggered by enhanced physical activity and stress." "" + "hypogonadotropic hypogonadism 16 with or without anosmia" "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the SEMA3A gene." "" + "hereditary spastic paraplegia 53" "A very rare, complex type of hereditary spastic paraplegia characterized by early-onset spastic paraplegia (with spasticity in the lower extremities that progresses to the upper extremities) associated with developmental and motor delay, mild to moderate cognitive and speech delay, skeletal dysmorphism (e.g. kyphosis and pectus), hypertrichosis and mildly impaired vibration sense. SPG53 is due to mutations in the VPS37A gene (8p22) encoding vacuolar protein sorting-associated protein 37A." "" + "autosomal recessive nonsyndromic hearing loss 93" "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the CABP2 gene." "" + "Diamond-Blackfan anemia 11" "Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPL26 gene." "" + "lethal congenital contracture syndrome 4" "Any lethal congenital contracture syndrome in which the cause of the disease is a mutation in the MYBPC1 gene." "" + "catecholaminergic polymorphic ventricular tachycardia 4" "Any catecholaminergic polymorphic ventricular tachycardia in which the cause of the disease is a mutation in the CALM1 gene." "" + "peroxisome biogenesis disorder 14B" "" + "peroxisome biogenesis disorder due to PEX11B defect" "Any peroxisome biogenesis disorder in which the cause of the disease is a mutation in the PEX11B gene." "" + "PGM1-CDG" "" + "combined oxidative phosphorylation defect type 11" "Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the RMND1 gene." "" + "branched-chain keto acid dehydrogenase kinase deficiency" "Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency is a rare disorder of branched-chain amino acid metabolism characterized by childhood-onset epilepsy, autism and intellectual disability with reduced levels of plasma branched chain aminoacids." "" + "leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome" "Leukoencephalopathy-thalamus and brainstem anomalies-high lactate (LTBL) syndrome is a rare, genetic neurological disorder defined by early-onset of neurologic symptoms, biphasic clinical course, unique MRI features (incl. extensive, symmetrical, deep white matter abnormalities), and increased lactate in body fluids. The severe form is characterized by delayed psychomotor development, seizures, early-onset hypotonia, and persistently increased lactate levels. The mild form usually presents with irritability, psychomotor regression after six months of age, and temporary high lactate levels, with overall clinical improvement from the second year onward." "" + "Perrault syndrome 2" "Any Perrault syndrome in which the cause of the disease is a mutation in the HARS2 gene." "" + "ectodermal dysplasia 5, hair/nail type" "" + "ectodermal dysplasia 6, hair/nail type" "" + "ectodermal dysplasia 7, hair/nail type" "Any pure hair and nail ectodermal dysplasia in which the cause of the disease is a mutation in the KRT74 gene." "" + "ectodermal dysplasia 9, hair/nail type" "Any pure hair and nail ectodermal dysplasia in which the cause of the disease is a mutation in the HOXC13 gene." "" + "combined oxidative phosphorylation defect type 13" "Combined oxidative phosphorylation defect type 13 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by normal early development followed by the sudden onset in infancy of poor feeding, dysphagia, truncal (followed by global) hypotonia, motor regression, abnormal movements (i.e. severe dystonia of limbs, choreoathetosis, facial dyskinesias) and reduced tendon reflexes. The disease course is severe but nonprogressive." "" + "autosomal recessive nonsyndromic hearing loss 70" "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the PNPT1 gene." "" + "primary ciliary dyskinesia 19" "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the LRRC6 gene." "" + "palmoplantar keratoderma, punctate type ib" "" + "myoclonus, familial" "A rare, genetic movement disorder characterized by autosomal dominant, adult-onset, slowly progressive, multifocal, cortical myoclonus. Patients present somatosensory-evoked, brief, jerky, involuntary movements in the face, arms and legs, associated in most of cases with sustained, multiple, sudden falls without loss of consciousness. Seizures or other neurological deficits, aside from mild cerebellar ataxia late in the course of the illness, are absent." "" + "ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant" "" + "ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive" "" + "autosomal recessive nonsyndromic hearing loss 84B" "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the OTOGL gene." "" + "autosomal recessive nonsyndromic hearing loss 18B" "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the OTOG gene." "" + "combined oxidative phosphorylation defect type 14" "Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the FARS2 gene." "" + "combined oxidative phosphorylation defect type 15" "Combined oxidative phosphorylation defect type 15 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by onset in infancy or early childhood of muscular hypotonia, gait ataxia, mild bilateral pyramidal tract signs, developmental delay (affecting mostly speech and coordination) and subsequent intellectual disability. Short stature, obesity, microcephaly, strabismus, nystagmus, reduced visual acuity, lactic acidosis, and a brain neuropathology consistent with Leigh syndrome are also reported." "" + "congenital heart defects, multiple types, 3" "" + "developmental and epileptic encephalopathy, 14" "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the KCNT1 gene." "" + "pontocerebellar hypoplasia type 8" "A novel very rare form of pontocerebellar hypoplasia (see this term) characterized clinically by progressive microencephaly, feeding difficulties, severe developmental delay, although walking may be achieved, hypotonia often associated with increased muscle tone of lower extremities and deep tendon reflexes, joint deformities in the lower extremities, and occasionally complex seizures. PCH8 is caused by a loss-of-function mutation in the CHMP1A gene. MRI demonstrates a pontocerebellar hypoplasia with vermis and hemispheres equally affected and mild to severely reduced cerebral white matter volume with a fully formed very thin corpus callosum." "" + "obesity due to congenital leptin deficiency" "Congenital leptin deficiency is a form of monogenic obesity characterised by severe early-onset obesity and marked hyperphagia." "" + "obesity due to leptin receptor gene deficiency" "" + "pontocerebellar hypoplasia type 7" "Pontocerebellar hypoplasia type 7 (PCH7) is a novel very rare form of pontocerebellar hypoplasia with unknown etiology and poor prognosis reported in four patients and is characterized clinically during the neonatal period by hypotonia, no palpable gonads, micropenis and from infancy by progressive microcephaly, apneic episodes, poor feeding, seizures and regression of penis. MRI demonstrates a pontocerebellar hypoplasia. PCH7 is expressed as PCH with 46,XY disorder of sex development in individuals with XY karyotype, and may be expressed as PCH only in individuals with XX karyotype." "" + "Joubert syndrome 20" "Any Joubert syndrome in which the cause of the disease is a mutation in the TMEM231 gene." "" + "cholestasis, intrahepatic, of pregnancy, 3" "" + "focal facial dermal dysplasia type II" "Focal facial dermal dysplasia type II (FFDD2) is a focal facial dermal dysplasia (FFDD), characterized by congenital bitemporal scar-like depressions and other facial and organ abnormalities." "" + "focal facial dermal dysplasia type IV" "Focal facial dermal dysplasia type IV (FFDD4) is a rare focal facial dysplasia (FFDD), characterized by congenital isolated preauricular and/or cheek blister scar-like lesions." "" + "MEGF8-related Carpenter syndrome" "Any Carpenter syndrome in which the cause of the disease is a mutation in the MEGF8 gene." "" + "optic nerve edema-splenomegaly syndrome" "Optic nerve edema-splenomegaly syndrome is a rare presumably genetic disorder characterized by idiopathic massive splenomegaly with pancytopenia and childhood-onset chronic optic nerve edema with slowly progressive vision loss. Additional reported features include anhidrosis, urticaria and headaches." "" + "congenital heart defects, multiple types, 2" "Any congenital heart malformation in which the cause of the disease is a mutation in the TAB2 gene." "" + "Usher syndrome type 1K" "An Usher syndrome type 1 that has material basis in variation in the chromosome region 10p11.21-q21.1." "" + "autosomal dominant nocturnal frontal lobe epilepsy 5" "Any autosomal dominant nocturnal frontal lobe epilepsy in which the cause of the disease is a mutation in the KCNT1 gene." "" + "developmental and epileptic encephalopathy, 15" "" + "basal ganglia calcification, idiopathic, 4" "" + "immunoglobulin-mediated membranoproliferative glomerulonephritis" "Glomerulonephritis characterized by mesangial proliferation, endocapillary proliferation, and glomerular capillary wall remodeling with immune complex deposits from classical complement pathway activation." "" + "Schuurs-Hoeijmakers syndrome" "Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome is a rare, genetic, syndromic intellectual disability syndrome characterized by mild to moderate intellectual disability, developmental delay (with speech and language development more severely affected) and facial dysmorphism which typically includes full, arched eyebrows, hypertelorism, down-slanting palpebral fissures, long eyelashes, ptosis, low-set, simple ears, bulbous nasal tip, flat philtrum, wide mouth with downturned corners and thin upper lip and diastema of the teeth. Association with infantile hypotonia, seizures, cryptorchidism in males and congenital abnormalities, including cardiac, cerebral or occular defects, may be observed." "" + "Aicardi-Goutieres syndrome 6" "Any Aicardi-Goutieres syndrome in which the cause of the disease is a mutation in the ADAR gene." "" + "phosphohydroxylysinuria" "" + "autosomal recessive congenital ichthyosis 7" "An autosomal recessive congenital ichthyosis characterized by fine whitish scales, moderate to severe erythroderma, compact hyperkeratosis, hypergranulosis, acanthosis, and papillomatosis that has material basis in variation in the chromosome region 12p11.2-q13.1." "" + "autosomal recessive congenital ichthyosis 9" "Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the CERS3 gene." "" + "autosomal recessive congenital ichthyosis 10" "Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the PNPLA1 gene." "" + "Charcot-Marie-Tooth disease axonal type 2Q" "Autosomal dominant Charcot-Marie-Tooth disease type 2Q is a rare subtype of autosomal dominant Charcot-Marie-Tooth disease type 2 characterized by adolescent to adulthood-onset of symmetrical, slowly progressive distal muscle weakness and atrophy (with a predominant weakness of the distal lower limbs) associated with reduced or absent deep tendon reflexes, pes cavus and mild to moderated deep sensory impairment." "" + "maternal riboflavin deficiency" "" + "epidermolysis bullosa simplex due to exophilin 5 deficiency" "" + "hereditary spastic paraplegia 56" "Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the CYP2U1 gene." "" + "hereditary spastic paraplegia 49" "Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the TECPR2 gene." "" + "autism, susceptibility to, 18" "" + "hereditary spastic paraplegia 54" "A rare, complex form of hereditary spastic paraplegia characterized by the onset in early childhood of progressive spastic paraplegia associated with cerebellar signs, short stature, delayed psychomotor development, intellectual disability and, less commonly, foot contractures, dysarthria, dysphagia, strabismus and optic hypoplasia. SPG54 is caused by mutations in the DDHD2 gene (8p11.23) encoding phospholipase DDHD2." "" + "dystonia 24" "Any dystonic disorder in which the cause of the disease is a mutation in the ANO3 gene." "" + "hereditary spastic paraplegia 55" "" + "familial episodic pain syndrome with predominantly upper body involvement" "" + "familial episodic pain syndrome" "" + "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10" "Any muscular dystrophy-dystroglycanopathy, type A in which the cause of the disease is a mutation in the RXYLT1 gene." "" + "congenital muscular dystrophy with intellectual disability and severe epilepsy" "" + "hereditary spastic paraplegia 43" "Autosomal recessive spastic paraplegia type 43 is a rare, complex hereditary spastic paraplegia characterized by a childhood to adolescent onset of progressive lower limb spasticity, associated with mild to severe gait disturbances, extensor plantar responses, muscle weakness and severe distal atrophy, frequently with upper limb involvement. Additional features may include joint contractures, distal sensory loss and brisk or absent deep tendon reflexes. Other signs, such as depression, memory loss, optic atrophy (with vision loss) and brain iron deposition (revealed by brain imagery), have also been reported." "" + "lower motor neuron syndrome with late-adult onset" "" + "congenital stationary night blindness 1F" "Any congenital stationary night blindness in which the cause of the disease is a mutation in the LRIT3 gene." "" + "hypotrichosis 11" "Any hypotrichosis in which the cause of the disease is a mutation in the SNRPE gene." "" + "distal arthrogryposis type 5D" "Distal arthrogryposis type 5D is a rare subtype of distal arthrogryposis syndrome characterized by arthrogryposis multiplex congenita affecting the hands, feet, ankle, shoulders and/or neck, with camptodactyly of the fingers and limited knee and hip extension, associated with asymmetric ptosis and, less frequently, other ocular manifestations (e.g. ophthalmoplegia, strabismus). Affected individuals frequently have a bulbous nose, furrowed tongue, micro/retrognathia, a short neck, congenital hip dislocation, club feet, scoliosis and short stature." "" + "osteogenesis imperfecta type 14" "Any osteogenesis imperfecta in which the cause of the disease is a mutation in the TMEM38B gene." "" + "primary ciliary dyskinesia 20" "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CCDC114 gene." "" + "microcephalic primordial dwarfism, Alazami type" "Microcephalic primordial dwarfism, Alazami type is a rare, genetic developmental defect during embryogenesis syndrome characterized by severe intellectual disability, distinct dysmorphic facial features (i.e. triangular face with prominent forehead, narrow palpebral fissures, deep-set eyes, low-set ears, broad nose, malar hypoplasia, short philtrum, macrostomia, widely spaced teeth) and pre and postnatal proportionate short stature, ranging from primordial dwarfism (height below -3.5 SD) to a milder phenotype with less severe growth restriction (height below -2.5 SD). Other reported features include skeletal findings (e.g. scoliosis), microcephaly, involuntary hand movements, hypersensitivity to stimuli and behavioral problems, such as anxiety." "" + "brachydactyly type A1C" "Any brachydactyly type A1 in which the cause of the disease is a mutation in the GDF5 gene." "" + "dystonia 25" "Autosomal dominant focal dystonia, DTY25 is a form of focal dystonia, characterized by cervical, laryngeal and hand-forearm dystonia." "" + "severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome" "An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of GATAD2B on chromosome 1q21.3." "" + "severe intellectual disability-progressive spastic diplegia syndrome" "Severe intellectual disability-progressive spastic diplegia syndrome is a rare condition that has been described in a few people with severe intellectual disability. Other signs and symptoms include progressive microcephaly (very small head); ataxia (lack of coordination); spasticity ; and/or skin, hair and mild facial anomalies. It is caused by changes (mutations) in the CTNNB1 gene and it is inherited in an autosomal dominant fashion. Treatment is based on the signs and symptoms present in each person." "" + "Alzheimer disease 17" "An Alzheimer's disease that is characterized by an associated with mutations in the gene TREM2." "" + "spermatogenic failure 11" "Any azoospermia in which the cause of the disease is a mutation in the KLHL10 gene." "" + "colorectal cancer, susceptibility to, 12" "Any colorectal cancer in which the cause of the disease is a mutation in the POLE gene." "" + "mitochondrial DNA depletion syndrome 11" "Progressive external ophthalmoplegia-myopathy-emaciation syndrome is a rare mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies characterized by progressive external ophthalmoplegia without diplopia, cerebellar atrophy, proximal skeletal muscle weakness with generalized muscle wasting, profound emaciation, respiratory failure, spinal deformity and facial muscle weakness (manifesting with ptosis, dysphonia, dysphagia and nasal speech). Intellectual disability, gastrointestinal symptoms (e.g. nausea, abdominal fullness, and loss of appetite), dilated cardiomyopathy and renal colic have also been reported." "" + "autosomal recessive osteopetrosis 8" "Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the SNX10 gene." "" + "autism, susceptibility to, 19" "" + "left ventricular noncompaction 7" "Any left ventricular noncompaction in which the cause of the disease is a mutation in the MIB1 gene." "" + "microcephalic primordial dwarfism due to ZNF335 deficiency" "Microcephalic primordial dwarfism due to ZNF335 deficiency is characterized by severe antenatal microencephaly, simplified gyration, agenesis of the corpus callosum, absence of basal ganglia (very rare), pontocerebellar atrophy and involvement of the white matter with secondary cerebral atrophy. Congenital cataract, choanal atresia, multiple arthrogryposis and spastic tetraparesis can occur." "" + "dysmorphism-conductive hearing loss-heart defect syndrome" "A syndrome characterized by distinctive facial features, cleft palate, conductive hearing loss, and mild developmental delay. The craniofacial dysmorphism included low frontal hairline, ptosis, prominent eyes, flat midface, Cupid's bow configuration of the upper lip, and low-set, posteriorly rotated small ears." "" + "Cowden syndrome 3" "Any Cowden disease in which the cause of the disease is a mutation in the SDHD gene." "" + "Cowden syndrome 4" "Any Cowden disease in which the cause of the disease is a mutation in the KLLN gene." "" + "Cowden syndrome 5" "Any Cowden disease in which the cause of the disease is a mutation in the PIK3CA gene." "" + "Cowden syndrome 6" "Any Cowden disease in which the cause of the disease is a mutation in the AKT1 gene." "" + "urofacial syndrome 2" "Any Ochoa syndrome in which the cause of the disease is a mutation in the LRIG2 gene." "" + "isolated microphthalmia 8" "Any isolated microphthalmia in which the cause of the disease is a mutation in the ALDH1A3 gene." "" + "cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2" "Any fatal infantile encephalocardiomyopathy in which the cause of the disease is a mutation in the COX15 gene." "" + "congenital myasthenic syndrome 8" "Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the AGRN gene." "" + "stomatin-like protein-2, hyperphosphorylation of" "" + "lymphoproliferative syndrome 2" "Any lymphoproliferative syndrome in which the cause of the disease is a mutation in the CD27 gene." "" + "epilepsy, familial adult myoclonic, 4" "" + "melanoma, cutaneous malignant, susceptibility to, 9" "" + "maple syrup urine disease, mild variant" "" + "intermediate maple syrup urine disease" "Intermediate maple syrup urine disease (intermediate MSUD) is a milder form of MSUD characterized by persistently raised branched-chain amino acids (BCAAs) and ketoacids, but fewer or no acute episodes of decompensation." "" + "facial dysmorphism-immunodeficiency-livedo-short stature syndrome" "Facial dysmorphism-immunodeficiency-livedo-short stature syndrome is a rare genetic disease characterized by facial dysmorphism with malar hypoplasia and high forehead, immunodeficiency resulting in recurrent infections, impaired growth (with normal growth hormone production and response) resulting in short stature, and livedo affecting face and extremities. Immunological analyses show low memory B-cell and naïve T cell counts, decreased T cell proliferation, and reduced IgM, IgG2 and IgG4 titers. Patients do not exhibit increased susceptibility to cancer." "" + "microphthalmia, isolated, with coloboma 9" "Any microphthalmia, isolated, with coloboma in which the cause of the disease is a mutation in the TENM3 gene." "" + "progressive retinal dystrophy due to retinol transport defect" "" + "Steel syndrome" "A rare genetic bone disease characterized by short stature, bilateral congenital hip dislocation, radial head dislocation, carpal coalition, scoliosis, pes cavus, and atlantoaxial subluxation. Dysmorphic facial features include broad forehead, broad nasal bridge, hypertelorism, and mild midface hypoplasia. Association with bilateral sensorineural hearing loss has also been described." "" + "mitochondrial DNA deletion syndrome with progressive myopathy" "" + "mitochondrial complex III deficiency nuclear type 2" "Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the TTC19 gene." "" + "mitochondrial complex III deficiency nuclear type 3" "Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the UQCRB gene." "" + "mitochondrial complex III deficiency nuclear type 4" "Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the UQCRQ gene." "" + "mitochondrial complex III deficiency nuclear type 5" "Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the UQCRC2 gene." "" + "short ulna-dysmorphism-hypotonia-intellectual disability syndrome" "" + "cone-rod dystrophy 17" "A cone-rod dystrophy that has material basis in variation in the chromosome region 10q26." "" + "syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome" "" + "oculocutaneous albinism type 7" "Oculocutaneous albinism type 7 (OCA7), formerly called OCA5, is a form of oculocutaneous albinism (OCA) characterized by skin and hair hypopigmentation, nystagmus and iris transillumination." "" + "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11" "Any muscular dystrophy-dystroglycanopathy, type A in which the cause of the disease is a mutation in the B3GALNT2 gene." "" + "D,L-2-hydroxyglutaric aciduria" "D,L-2-hydroxyglutaric aciduria is a rare inborn error of metabolism characterized by severe neonatal epileptic encephalopathy, episodes of apnea and respiratory distress, severe global developmental delay or absent psychomotor development, severe muscular hypotonia or absent voluntary movements, feeding difficulties and failure to thrive, absence of visual contact, abnormal brain morphology (including cerebral atrophy, ventriculomegaly and hypoplasia or dysplasia of the corpus callosum), mild dysmorphic features (frontal bossing, hypertelorism, downslanting palpebral fissures, flat nasal bridge), elevated CSF and plasma lactate and urinary Krebs cycle metabolites." "" + "dilated cardiomyopathy 1II" "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the CRYAB gene." "" + "Charcot-Marie-Tooth disease dominant intermediate F" "Autosomal dominant intermediate Charcot-Marie-Tooth disease type F is a rare hereditary motor and sensory neuropathy disorder characterized by the typical CMT phenotype (slowly progressive distal muscle atrophy and weakness in upper and lower limbs, distal sensory loss in extremities, reduced or absent deep tendon reflexes and foot deformities) with nerve biopsy demonstrating demyelinating and axonal changes and nerve conduction velocities varying from the demyelinating to axonal range." "" + "cataract 39 multiple types" "Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CRYGB gene." "" + "dyskeratosis congenita, autosomal recessive 5" "A dyskeratosis congenita that has material basis in an autosomal dominant mutation of RTEL1 on chromosome 20q13.33." "" + "cobblestone lissencephaly without muscular or ocular involvement" "Cobblestone lissencephaly without muscular or ocular involvement is a form of cobblestone lissencephaly characterized by a constellation of brain malformations which can either exist alone or in conjunction with minimal muscular and ocular abnormalities. The clinical features of the disease include severe developmental delay, increased head circumference, hydrocephalus and seizures." "" + "cobblestone lissencephaly" "Cobblestone lissencephaly is a rare central nervous system malformation which includes a group of diseases that are characterized by a bumpy (or pebbled) appearance of the cerebral cortex, associated with a thickened cortex, reduction in normal sulcation, ventriculomegaly and reduced, abnormal white matter, as well as brainstem and cerebellum hypoplasia and corpus callosum agenesis. Patients generally present variable degrees of developmental delay, hypotonia and ocular abnomalities, however muscular and ocular involvement may be absent." "" + "platelet-type bleeding disorder 15" "Any inherited bleeding disorder, platelet-type in which the cause of the disease is a mutation in the ACTN1 gene." "" + "restless legs syndrome, susceptibility to, 8" "" + "osteosclerotic metaphyseal dysplasia" "" + "severe combined immunodeficiency due to CARD11 deficiency" "Severe combined immunodeficiency due to CARD11 deficiency is a rare combined T and B cell immunodeficiency characterized by normal numbers of T and B lymphocytes, increased numbers of transitional B cells and hypo- to agammaglobulinemia, decreased numbers of regulatory T cells and defects in T-cell functions. It presents with severe susceptibility to infections, including opportunistic infections." "" + "T+ B+ severe combined immunodeficiency" "" + "cryptosporidiosis-chronic cholangitis-liver disease syndrome" "" + "agammaglobulinemia 7, autosomal recessive" "Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the PIK3R1 gene." "" + "ataxia with oculomotor apraxia type 3" "" + "spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2" "A rare autosomal recessive cerebellar ataxia (ARCA), characterized by progressive cerebellar ataxia associated with frequent oculomotor apraxia, severe neuropathy and an elevated serum alpha-fetoprotein (AFP) level." "" + "hydrocephalus, nonsyndromic, autosomal recessive 2" "Any congenital hydrocephalus in which the cause of the disease is a mutation in the MPDZ gene." "" + "osteogenesis imperfecta type 15" "Any osteogenesis imperfecta in which the cause of the disease is a mutation in the WNT1 gene." "" + "Smith-McCort dysplasia 2" "Any Smith-McCort dysplasia in which the cause of the disease is a mutation in the RAB33B gene." "" + "advanced sleep phase syndrome 2" "Any advanced sleep phase syndrome in which the cause of the disease is a mutation in the CSNK1D gene." "" + "corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome" "" + "polydactyly, postaxial, type A6" "" + "mitochondrial complex V (ATP synthase) deficiency nuclear type 4" "Any mitochondrial complex deficiency in which the cause of the disease is a mutation in the ATP5F1A gene." "" + "combined oxidative phosphorylation deficiency 22" "" + "schizophrenia 18" "A schizophrenia that has material basis in a mutation of SLC1A1 on chromosome 9p24.2." "" + "retinitis pigmentosa 66" "Any retinitis pigmentosa in which the cause of the disease is a mutation in the RBP3 gene." "" + "severe congenital hypochromic anemia with ringed sideroblasts" "STEAP3/TSAP6-related sideroblastic anemia is a very rare severe non-syndromic hypochromic anemia, which is characterized by transfusion-dependent hypochromic, poorly regenerative anemia, iron overload, resembling non-syndromic sideroblastic anemia except for increased erythrocyte protoporphyrin levels." "" + "dilated cardiomyopathy 1JJ" "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the LAMA4 gene." "" + "microcephaly-intellectual disability-phalangeal and neurological anomalies syndrome" "This syndrome is characterised by microcephaly, severe intellectual deficit, phalangeal anomalies (cutaneous syndactyly of the fingers, toe brachyclinodactyly and nail hypoplasia) and neurological manifestations (epilepsy, spastic/dystonic paraplegia and brisk reflexes)." "" + "CIDEC-related familial partial lipodystrophy" "" + "nephrotic syndrome, type 8" "Any nephrotic syndrome in which the cause of the disease is a mutation in the ARHGDIA gene." "" + "dilated cardiomyopathy 1KK" "Any dilated cardiomyopathy in which the cause of the disease is a mutation in the MYPN gene." "" + "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12" "Any muscular dystrophy-dystroglycanopathy, type A in which the cause of the disease is a mutation in the POMK gene." "" + "cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4" "Any dysequilibrium syndrome in which the cause of the disease is a mutation in the ATP8A2 gene." "" + "Fanconi anemia complementation group Q" "Any Fanconi anemia in which the cause of the disease is a mutation in the ERCC4 gene." "" + "NGLY1-deficiency" "A rare autosomal recessive inherited disorder caused by mutations in the NGLY1 gene. It is characterized by developmental delay, hypotonia, abnormal involuntary movements, poor tear production, microcephaly, intractable seizures, abnormal eye movements, and liver abnormalities." "" + "glycoprotein metabolism disease" "A disease that has its basis in the disruption of glycoprotein metabolic process." "" + "cataract 15 multiple types" "Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the MIP gene." "" + "cataract 19 multiple types" "Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the LIM2 gene." "" + "cardiofaciocutaneous syndrome 2" "Any cardiofaciocutaneous syndrome in which the cause of the disease is a mutation in the KRAS gene." "" + "cardiofaciocutaneous syndrome 3" "Any cardiofaciocutaneous syndrome in which the cause of the disease is a mutation in the MAP2K1 gene." "" + "cardiofaciocutaneous syndrome 4" "Any cardiofaciocutaneous syndrome in which the cause of the disease is a mutation in the MAP2K2 gene." "" + "hypomyelination with brain stem and spinal cord involvement and leg spasticity" "" + "complex cortical dysplasia with other brain malformations 2" "Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the KIF5C gene." "" + "Charcot-Marie-Tooth disease type 4B3" "Charcot-Marie-Tooth disease type 4B3 (CMT4B3) is a subtype of Charcot-Marie-Tooth type 4 characterized by a childhood onset of slowly progressing, demyelinating sensorimotor neuropathy, focally folded myelin sheaths in nerve biopsy, reduced nerve conduction velocities (less than 38 m/s), and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, and sensory loss)." "" + "congenital neutropenia-myelofibrosis-nephromegaly syndrome" "" + "intellectual disability-strabismus syndrome" "" + "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13" "" + "autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures" "" + "myofibromatosis, infantile, 2" "Any myofibromatosis in which the cause of the disease is a mutation in the NOTCH3 gene." "" + "primary ciliary dyskinesia 21" "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DRC1 gene." "" + "Adams-Oliver syndrome 4" "Any Adams-Oliver syndrome in which the cause of the disease is a mutation in the EOGT gene." "" + "symphalangism, proximal, 1B" "Any proximal symphalangism in which the cause of the disease is a mutation in the GDF5 gene." "" + "Perrault syndrome 4" "Any Perrault syndrome in which the cause of the disease is a mutation in the LARS2 gene." "" + "oculocutaneous albinism type 5" "Oculocutaneous albinism type 5 (OCA5) is a type of oculocutaneous albinism found in one Pakistani family to date, characterized by white skin, golden hair, photophobia, nystagmus, foveal hypoplasia and impaired visual acuity, that affects males and females equally, and that has been mapped to a locus on chromosome 4q24 but whose gene has not yet been discovered." "" + "TCF12-related craniosynostosis" "Any craniosynostosis in which the cause of the disease is a mutation in the TCF12 gene." "" + "autosomal recessive limb-girdle muscular dystrophy type 2R" "Autosomal recessive limb-girdle muscular dystrophy type 2R (LGMD2R) is a form of limb-girdle muscular dystrophy characterized by the adolescent or early adulthood-onset of progressive proximal muscle weakness and mild facial muscle weakness, with patients becoming wheelchair bound in their fourth to fifth decade of life. Mild, bilateral winged scapula, incomplete right bundle branch block, and a sinus rhythm with very rare ventricular extrasystoles have also been reported." "" + "Dowling-Degos disease 2" "Any Dowling-Degos disease in which the cause of the disease is a mutation in the POFUT1 gene." "" + "hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome" "" + "multiple mitochondrial dysfunctions syndrome 3" "Any fatal multiple mitochondrial dysfunctions syndrome in which the cause of the disease is a mutation in the IBA57 gene." "" + "developmental and epileptic encephalopathy, 16" "" + "pulmonary hypertension, primary, 2" "Any primary pulmonary hypertension in which the cause of the disease is a mutation in the SMAD9 gene." "" + "heritable pulmonary arterial hypertension" "Heritable pulmonary arterial hypertension (HPAH) is a form of pulmonary arterial hypertension (PAH), occurring due to mutations in PAH predisposing genes or in a familial context. HPAH is characterized by elevated pulmonary arterial resistance leading to right heart failure. HPAH is progressive and potentially fatal." "" + "pulmonary hypertension, primary, 3" "Any primary pulmonary hypertension in which the cause of the disease is a mutation in the CAV1 gene." "" + "pulmonary hypertension, primary, 4" "Any primary pulmonary hypertension in which the cause of the disease is a mutation in the KCNK3 gene." "" + "precocious puberty, central, 2" "Any central precocious puberty in which the cause of the disease is a mutation in the MKRN3 gene." "" + "nemaline myopathy 8" "An autosomal recessive myopathy caused by mutations in the KLHL40 gene, encoding Kelch-like protein 40. The phenotype is highly variable, and as such attempts at classification by clinical features is not optimal. Generally, affected individuals have generalized muscle weakness, and typically involves proximal muscles, the face, bulbar and respiratory muscles." "" + "Ehlers-Danlos syndrome, progeroid type, 2" "Any Ehlers-Danlos syndrome progeroid type in which the cause of the disease is a mutation in the B3GALT6 gene." "" + "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14" "" + "myopathy caused by variation in GMPPB" "Any myopathy in which the cause of the disease is a variation in the GMPPB gene." "" + "muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14" "" + "autosomal recessive limb-girdle muscular dystrophy type 2T" "Autosomal recessive limb-girdle muscular dystrophy type 2T (LGMD2T) is a form of limb-girdle muscular dystrophy, that can present from birth to early childhood, characterized by hypotonia, microcephaly, mild proximal muscle weakness (leading to delayed walking and difficulty climbing stairs), mild intellectual disability and epilepsy. Additional manifestations reported in some patients include cataracts, nystagmus, cardiomyopathy, and respiratory insufficiency." "" + "Noonan syndrome 8" "Any Noonan syndrome in which the cause of the disease is a mutation in the RIT1 gene." "" + "autosomal recessive limb-girdle muscular dystrophy type 2S" "Autosomal recessive limb-girdle muscular dystrophy type 2S (LGMD2S) is a form of limb-girdle muscular dystrophy characterized by childhood-onset of progressive proximal muscle weakness (leading to reduced ambulation) with myalgia and fatigue, in addition to infantile hyperkinetic movements, truncal ataxia, and intellectual disability. Additional manifestations include scoliosis, hip dysplasia, and less commonly, ocular features (e.g. myopia, cataract) and seizures." "" + "intellectual disability-hyperkinetic movement-truncal ataxia syndrome" "" + "Leber congenital amaurosis 17" "Any Leber congenital amaurosis in which the cause of the disease is a mutation in the GDF6 gene." "" + "autosomal dominant hypocalcemia 2" "An autosomal dominant hypocalcemia disease that has material basis in heterozygous mutation in the GNA11 gene on chromosome 19p13." "" + "neuronal ceroid lipofuscinosis 13" "Any neuronal ceroid lipofuscinosis in which the cause of the disease is a mutation in the CTSF gene." "" + "estrogen resistance syndrome" "Estrogen resistance syndrome is a rare, genetic endocrine disease characterized by estrogen-receptor insensitivity to estrogens and the presence of elevated estrogen and gonadotropin serum levels. Clinical manifestations include absent breast development and primary amenorrhea in association with multicystic ovaries and/or hypoplastic uterus in female patients, normal or abnormal gonadal development in male patients and markedly delayed bone maturation, persistence of open epiphyses, reduced bone mineral density, and variable tall stature in both sexes. Glucose intolerance, hyperinsulinemia and lipid abnormalities may also be present." "" + "fetal akinesia-cerebral and retinal hemorrhage syndrome" "Fetal akinesia-cerebral and retinal hemorrhage syndrome is a rare, lethal, congenital myopathy syndrome characterized by decreased fetal movements and polyhydraminos in utero and the presence of akinesia, severe hypotonia with respiratory insufficiency, absent reflexes, joint contractures, skeletal abnormalities with thin ribs and bones, intracranial and retinal hemorrhages and decreased birth weight in the neonate." "" + "childhood onset epileptic encephalopathy" "An idiopathic generalized epilepsy characterized by onset of multiple seizure types in the first few years of life and associated with poor prognosis. Affected individuals have cognitive regression and intellectual disability." "" + "myoclonic-astastic epilepsy" "Myoclonic Astatic Epilepsy (MAE) is a rare epilepsy syndrome of childhood characterized by the occurrence of multiple different seizure types including myoclonic-astatic, generalized tonic-clonic and absence seizures, usually in previously healthy children." "" + "Lennox-Gastaut syndrome" "Lennox-Gastaut syndrome (LGS) belongs to the group of severe childhood epileptic encephalopathies." "" + "pulmonary hypertension, neonatal, susceptibility to" "" + "left ventricular noncompaction 8" "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the PRDM16 gene." "" + "cone-rod dystrophy 18" "Any cone-rod dystrophy in which the cause of the disease is a mutation in the RAB28 gene." "" + "RAB28 retinopathy" "A retinopathy caused by biallelic variants in the RAB28 gene." "" + "Charcot-Marie-Tooth disease recessive intermediate C" "Autosomal recessive intermediate Charcot-Marie-Tooth disease type C is a rare subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease characterized by childhood to adulthood-onset of progressive, moderate to severe, predominantly distal, mostly lower limb muscle weakness and atrophy, foot deformities (including pes cavus and hammer toes), absent deep tendon reflexes and distal sensory loss associated with decreased motor and sensory nerve conduction velocities and features of both demyelinating and axonal neuropathy on sural nerve biopsy." "" + "atrial fibrillation, familial, 13" "Any familial atrial fibrillation in which the cause of the disease is a mutation in the SCN1B gene." "" + "atrial fibrillation, familial, 14" "Any familial atrial fibrillation in which the cause of the disease is a mutation in the SCN2B gene." "" + "mandibular hypoplasia-deafness-progeroid syndrome" "" + "nephronophthisis 16" "Any nephronophthisis in which the cause of the disease is a mutation in the ANKS6 gene." "" + "autosomal recessive spinocerebellar ataxia 14" "Spectrin-associated autosomal recessive cerebellar ataxia is a rare, genetic neurological disease, due to SPTBN2 mutations, characterized by global development delay in infancy, followed by childhood-onset gait ataxia with limb dysmetria and dysdiadochokinesia, mild to severe intellectual disability, development of cerebellar atrophy, and abnormal eye movements (including a convergent squint, hypometric saccades, jerky pursuit movements and incomplete range of movement)." "" + "TCR-alpha-beta-positive T-cell deficiency" "A non-severe combined immunodeficiency disorder manifesting with recurrent respiratory infections, candidiasis, diarrhea, and failure to thrive. Patients show a clear predisposition to herpes viral infections, and features of immune dysregulation, including hypereosinophilia, vitiligo, and alopecia areata. Other features include lymphadenopathy and hepatosplenomegaly. CD3+ T-cells express TCR- gamma|delta, but little or no TCR-alpha|beta." "" + "vesicoureteral reflux 7" "" + "infantile hypertrophic cardiomyopathy due to MRPL44 deficiency" "Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency is a rare mitochondrial oxidative phosphorylation disorder with complex I and IV deficiency characterized by hypertrophic cardiomyopathy, hepatic steatosis with elevated liver transaminases, exercise intolerance and muscle weakness. Neuro-opthalmological features (hemiplegic migraine, Leigh-like lesions on brain MRI, pigmentary retinopathy) have been reported later in life." "" + "left ventricular noncompaction 10" "Any left ventricular noncompaction in which the cause of the disease is a mutation in the MYBPC3 gene." "" + "Meckel syndrome, type 11" "Any Meckel syndrome in which the cause of the disease is a mutation in the TMEM231 gene." "" + "multiple congenital anomalies-hypotonia-seizures syndrome 3" "Intellectual disability-seizures-hypotonia-ophthalmologic-skeletal anomalies syndrome is a rare congenital disorder of glycosylation characterized by neonatal hypotonia, global development delay, developmental regress and severe to profound intellectual disability, infantile onset seizures that are initially associated with febrile episodes with subsequent transition to unprovoked seizures, impaired vision with esotropia and nystagmus, progressive cerebral and cerebellar atrophy, skeletal abnormalities (including brachycephaly, scoliosis, slender long bones, delayed bone age, pectus excavatum and osteopenia), inverted nipples and dysmorphic features including high and narrow forehead, frontal bossing, short nose, depressed nasal bridge, anteverted nares, high palate and wide open mouth consistent with facial hypotonia. Other features may include cardiac abnormalities (such as patent ductus arteriosus, atrial septal defects), urogenital abnormalities (such as nephrocalcinosis, urolithiasis), and low plasma concentration of alkaline phosphatase." "" + "paroxysmal nocturnal hemoglobinuria 2" "Any paroxysmal nocturnal hemoglobinuria in which the cause of the disease is a mutation in the PIGT gene." "" + "epilepsy, familial adult myoclonic, 5" "Any epilepsy, familial adult myoclonic in which the cause of the disease is a mutation in the CNTN2 gene." "" + "severe combined immunodeficiency due to CORO1A deficiency" "" + "dyschromatosis universalis hereditaria 3" "Any dyschromatosis universalis hereditaria in which the cause of the disease is a mutation in the ABCB6 gene." "" + "complex cortical dysplasia with other brain malformations 3" "Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the KIF2A gene." "" + "complex cortical dysplasia with other brain malformations 4" "Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the TUBG1 gene." "" + "spermatogenic failure 12" "Any azoospermia in which the cause of the disease is a mutation in the NANOS1 gene." "" + "microcephaly 11, primary, autosomal recessive" "Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the PHC1 gene." "" + "renal-hepatic-pancreatic dysplasia 2" "Any renal-hepatic-pancreatic dysplasia in which the cause of the disease is a mutation in the NEK8 gene." "" + "mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive" "An inherited condition caused by mutation(s) in the SLC25A4 gene, encoding ADP/ATP translocase 1. It is characterized by hypertrophic cardiomyopathy." "" + "hypotonia, infantile, with psychomotor retardation and characteristic facies" "A rare, genetic neurodegenerative disorder characterized by severe, persistent hypotonia (presenting at birth or in early infancy), severe global developmental delay (with poor or absent speech, difficulty or inability to roll, sit or walk), profound intellectual disability, and failure to thrive. Additional manifestations include microcephaly, progressive peripheral spasticity, bilateral strabismus and nystagmus, constipation, and variable dysmorphic facial features (including plagiocephaly, broad forehead, small nose, low-set ears, micrognathia and open mouth with tented upper lip)." "" + "myopia 22, autosomal dominant" "" + "inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2" "Any inclusion body myopathy with Paget disease of bone and frontotemporal dementia in which the cause of the disease is a mutation in the HNRNPA2B1 gene." "" + "inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3" "Any inclusion body myopathy with Paget disease of bone and frontotemporal dementia in which the cause of the disease is a mutation in the HNRNPA1 gene." "" + "epidermolysis bullosa simplex due to BP230 deficiency" "" + "amyotrophic lateral sclerosis type 20" "Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the HNRNPA1 gene." "" + "autosomal recessive nonsyndromic hearing loss 88" "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the ELMOD3 gene." "" + "myopia 23, autosomal recessive" "" + "specific language impairment 5" "A communication disorder that involves the processing of linguistic information." "" + "chromosome 3q13.31 deletion syndrome" "3q13 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 3. Phenotype can be highly variable, but it is primarily characterized by significant developmental delay, postnatal growth above the mean, muscular hypotonia and distinctive facial features (such as broad and prominent forehead, hypertelorism, epicantic folds, anti-mongloid slanted eyes, ptosis, short philtrum, protruding lips with a full lower lip, high arched palate). Abnormal hypoplastic male genitalia and skeletal abnormalities are frequently present." "" + "retinitis pigmentosa with or without situs inversus" "Any retinitis pigmentosa in which the cause of the disease is a mutation in the ARL2BP gene." "" + "aortic aneurysm, familial thoracic 8" "Any familial thoracic aortic aneurysm and aortic dissection in which the cause of the disease is a mutation in the PRKG1 gene." "" + "" "true" + "infantile liver failure syndrome 1" "Any infantile liver failure in which the cause of the disease is a mutation in the LARS gene." "" + "age related macular degeneration 13" "Any age-related macular degeneration in which the cause of the disease is a mutation in the CFI gene." "" + "combined oxidative phosphorylation defect type 17" "Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the ELAC2 gene." "" + "catecholaminergic polymorphic ventricular tachycardia 5" "Any catecholaminergic polymorphic ventricular tachycardia in which the cause of the disease is a mutation in the TRDN gene." "" + "primary ciliary dyskinesia 22" "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the ZMYND10 gene." "" + "primary ciliary dyskinesia 23" "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the ARMC4 gene." "" + "mitochondrial complex III deficiency nuclear type 6" "Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the CYC1 gene." "" + "microcornea-myopic chorioretinal atrophy" "" + "Hartsfield-Bixler-Demyer syndrome" "" + "combined immunodeficiency due to MALT1 deficiency" "Combined immunodeficiency due to MALT1 deficiency is a rare, genetic form of primary immunodeficiency characterized by growth retardation, early recurrent pulmonary infections leading to bronchiectasis, inflammatory gastrointestinal disease, and other symptoms, such as rash, dermatitis, skin infections." "" + "mitochondrial DNA depletion syndrome 13" "Any mitochondrial DNA depletion syndrome in which the cause of the disease is a mutation in the FBXL4 gene." "" + "developmental and epileptic encephalopathy, 17" "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GNAO1 gene." "" + "aldosterone-producing adenoma with seizures and neurological abnormalities" "" + "developmental and epileptic encephalopathy, 18" "" + "infantile epilepsy syndrome" "A epilepsy syndrome that occurs between 28 days to one year of life.." "" + "primary ciliary dyskinesia 24" "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the RSPH1 gene." "" + "primary ciliary dyskinesia 25" "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAAF4 gene." "" + "basal ganglia calcification, idiopathic, 5" "" + "severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome" "" + "severe early-onset pulmonary alveolar proteinosis due to MARS deficiency" "" + "age related macular degeneration 14" "An age related macular degeneration associated with variation at or near the C2 and CFB genes on chromosome 6p21." "" + "Charcot-Marie-Tooth disease type 2R" "Any Charcot-Marie-Tooth disease type 2 in which the cause of the disease is a mutation in the TRIM2 gene." "" + "early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome" "Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome is a genetic neurodegenerative disease characterized by normal early development followed by childhood onset optic atrophy with progressive vision loss and eventually blindness, followed by progressive neurological decline that typically includes cerebellar ataxia, nystagmus, dorsal column dysfunction (decreased vibration and position sense), spastic paraplegia and finally tetraparesis." "" + "intellectual disability-hypotonia-spasticity-sleep disorder syndrome" "" + "primary ciliary dyskinesia 26" "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CFAP298 gene." "" + "sulfite oxidase deficiency due to molybdenum cofactor deficiency type C" "A molybdenum cofactor deficiency that has material basis in homozygous mutation in the GPHN gene on chromosome 14q23." "" + "intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome" "" + "short-rib thoracic dysplasia 8 with or without polydactyly" "An asphyxiating thoracic dystrophy that has material basis in compound heterozygous mutation in the WDR60 gene on chromosome 7q36." "" + "primary ciliary dyskinesia 27" "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CCDC65 gene." "" + "primary ciliary dyskinesia 28" "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the SPAG1 gene." "" + "telangiectasia, hereditary hemorrhagic, type 5" "Any hereditary hemorrhagic telangiectasia in which the cause of the disease is a mutation in the GDF2 gene." "" + "severe dermatitis-multiple allergies-metabolic wasting syndrome" "" + "alacrima, achalasia, and intellectual disability syndrome" "" + "myopathy due to myoadenylate deaminase deficiency" "" + "triosephosphate isomerase deficiency" "Triosephosphate isomerase (TPI) deficiency is a severe autosomal recessive inherited multisystem disorder of glycolytic metabolism characterized by hemolytic anemia and neurodegeneration." "" + "immunodeficiency 14" "" + "activated PI3K-delta syndrome" "" + "amyotrophic lateral sclerosis type 19" "Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the ERBB4 gene." "" + "developmental delay with autism spectrum disorder and gait instability" "Developmental delay with autism spectrum disorder and gait instability is a rare, genetic, neurological disorder characterized by infant hypotonia and feeding difficulties, global development delay, mild to moderated intellectual disability, delayed independent ambulation, broad-based gait with arms upheld and flexed at the elbow with brisk walking or running, and limited language skills. Behavior patterns are highly variable and range from sociable and affectionate to autistic behavior." "" + "hemochromatosis type 5" "Any hereditary hemochromatosis in which the cause of the disease is a mutation in the FTH1 gene." "" + "idiopathic CD4 lymphocytopenia" "Idiopathic CD4 lymphocytopenia (ICL) is a rare primary immunodeficiency disorder characterized by persistent CD4 T-cell lymphopenia (less than 300 cells/B5L on multiple occasions) not associated with any other underlying primary or secondary immune deficiency. Patients typically present opportunistic infections (with cryptococcal, mycobacterial, candidal, varicella zoster virus infections and progressive multifocal leukoencephalopathy being the most prevalent), malignancies (mainly lymphoproliferative disorders), or autoimmune disorders. Some individuals are asymptomatic and incidentally diagnosed." "" + "hypopigmentation-punctate palmoplantar keratoderma syndrome" "" + "corneal dystrophy, Fuchs endothelial, 8" "Any Fuchs' endothelial dystrophy in which the cause of the disease is a mutation in the AGBL1 gene." "" + "microphthalmia, syndromic 12" "Syndromic microphthalmia-12 is a rare disease characterized by bilateral small eyeballs (microphthalmia), lungs that are too small (pulmonary hypoplasia), and a defect or hole in the diaphragm that allows the abdominal contents to move into the chest cavity (diaphragmatic hernia). Other symptoms may include: Severe global developmental delay with progressive motor impairment due to spasticity and/or uncontrolled repetitive muscular contractions (dystonia), with or without abnormal quick movements that resemble dancing (chorea), Defects of the cerebellum (Chiari type I malformation) Accumulation of cerebrospinal fluid inside the brain (hydrocephaly), Severe feeding difficulties, Mild facial dysmorphism with broad nasal root and tip, and a very small chin (micrognathia), Severe language delay, Wheelchair-bound. Syndromic microphthalmia-12 is caused by mutations in the RARB gene. There is no specific treatment for this syndrome." "" + "candidiasis, familial, 8" "Any chronic mucocutaneous candidiasis in which the cause of the disease is a mutation in the TRAF3IP2 gene." "" + "juvenile onset Parkinson disease 19A" "Any Parkinson disease in which the cause of the disease is a mutation in the DNAJC6 gene." "" + "atypical juvenile parkinsonism" "Atypical juvenile parkinsonism (AJP) is a complex form of young-onset Parkinson disease (YOPD) that manifests with pyramidal signs, eye movement abnormalities, psychiatric manifestations (depression, anxiety, drug-induced psychosis, and impulse control disorders), intellectual disability, and other neurological symptoms (such as ataxia and epilepsy) along with classical parkinsonian symptoms." "" + "craniosynostosis 5, susceptibility to" "Any craniosynostosis in which the cause of the disease is a mutation in the ALX4 gene." "" + "early-onset Parkinson disease 20" "Any Parkinson disease in which the cause of the disease is a mutation in the SYNJ1 gene." "" + "reticulate acropigmentation of Kitamura" "A pigmentation disease characterized by lesions that initially arise as letiginous, hyperpigmented macules in a reticular pattern on the dorsal aspect of the hands and feet. Over time, lesions may spread proximally and may darken; palmoplantar pitting and dermatoglyphic disruption may also be present." "" + "chromosome 22q13 duplication syndrome" "" + "Ehlers-Danlos syndrome, musculocontractural type 2" "Any Ehlers-Danlos syndrome, musculocontractural type in which the cause of the disease is a mutation in the DSE gene." "" + "autosomal recessive nonsyndromic hearing loss 76" "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the SYNE4 gene." "" + "severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome" "" + "testicular anomalies with or without congenital heart disease" "" + "periventricular nodular heterotopia 6" "Any periventricular nodular heterotopia in which the cause of the disease is a mutation in the ERMARD gene." "" + "leukemia, acute lymphoblastic, susceptibility to, 3" "Any precursor B-cell acute lymphoblastic leukemia in which the cause of the disease is a mutation in the PAX5 gene." "" + "van Maldergem syndrome 2" "Any van Maldergem syndrome in which the cause of the disease is a mutation in the FAT4 gene." "" + "Schaaf-Yang syndrome" "" + "hereditary sensory and autonomic neuropathy type 7" "Hereditary sensory and autonomic neuropathy type 7 (HSAN7) is a genetic condition that causes the inability to feel pain, excessive sweating, and gastrointestinal issues. Gastrointestinal issues can cause failure to thrive, painful constipation, and diarrhea. The constipation is due to intestinal dysmotility, where the the muscles and nerves of the digestive system do not move food through the digestive tract like it should. Signs and symptoms of HSAN7 usually appear at birth or during infancy. The inability to feel pain often leads to repeated, severe injuries, including bone fractures and joint dislocations. People with HSAN7 may also heal slowly putting them at risk for further complications, such as infection. Excessive sweating may cause itching. Other features may include partial insensitivity to cold and hot temperatures, mild muscle weakness, and motor skill delays. HSAN7 is not known to affect learning or intelligence. Treatment of HSAN7 aims to prevent injury and treat gastrointestinal and orthopedic problems. HSAN7 is caused by a mutation in the SCN11A gene. People with HSAN7 have a 1 in 2 or 50% chance of passing the condition on to each of their children. This pattern of inheritance is called ' autosomal dominant.'" "" + "autosomal dominant hereditary sensory and autonomic neuropathy" "Autosomal dominant form of hereditary sensory and autonomic neuropathy." "" + "Diamond-Blackfan anemia 12" "Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPL15 gene." "" + "episodic pain syndrome, familial, 2" "Any familial episodic pain syndrome in which the cause of the disease is a mutation in the SCN10A gene." "" + "sodium channelopathy-related small fiber neuropathy" "" + "familial episodic pain syndrome with predominantly lower limb involvement" "A rare, autosomal dominant disorder caused by mutation in the SCN11A gene. It is characterized by intense episodic pain mainly affecting the distal lower extremities in early childhood. The pain diminishes with age." "" + "autism spectrum disorder - epilepsy - arthrogryposis syndrome" "SLC35A3-CDG is a form of congenital disorders of N-linked glycosylation characterized by distal arthrogryposis (mild flexion contractures of the fingers, deviation of the distal phalanges, swan-neck deformity), retromicrognathia, general muscle hypotonia, delayed psychomotor development, autism spectrum disorder (speech delay, abnormal use of speech, difficulties in initiating, understanding and maintaining social interaction, limited non-verbal communication and repetitive behavior), seizures, microcephaly and mild to moderate intellectual disability that becomes apparent with age. The disease is caused by mutations in the gene SLC35A3 (1p21)." "" + "multiple fibroadenoma of the breast" "Mammary polyadenomatosis is characterised by the presence in both breasts of multiple voluminous fibroadenomas with heterogeneous echo patterns." "" + "familial hyperprolactinemia" "Familial hyperprolactinemia is a rare, genetic endocrine disorder characterized by persistently high prolactin serum levels (not associated with gestation, puerperium, drug intake or pituitary tumor) in multiple affected family members. Clinically it manifests with signs usually observed in hyperprolactinemia, which are: secondary medroxyprogesterone acetate (MPA)-negative amenorrhea and galactorrhea in female patients, and hypogonadism and decreased testosterone level-driven sexual disfunction in male patients. Oligomenorrhea and primary infertility have also been reported in some female patients." "" + "melioidosis, susceptibility to" "" + "melioidosis" "An infection that is caused by Burkholderia pseudomallei, which is found in soil and water; symptoms vary widely, but most commonly include fever, cough, pneumonia, arthralgia, myalgia, and skin ulceration." "" + "familial hypobetalipoproteinemia 1" "Any hypobetalipoproteinemia in which the cause of the disease is a mutation in the APOB gene." "" + "autoimmune lymphoproliferative syndrome type 3" "A rare, primary immunodeficiency. It is caused by a currently undetermined defect in the Fas-induced apoptosis pathway. No mutations in Fas, FASLG or CASP10 are detectable. Disruption of Fas-induced apoptosis impairs lymphocyte homeostasis and immune tolerance. Characteristic laboratory findings include an increase in circulating, double-negative (CD4-/CD8-) T cells in the setting of immune-mediated anemia, thrombocytopenia and neutropenia. Clinical signs present in childhood include fatigue, pallor, bruising, hepatosplenomegaly and chronic, non-malignant, non-infectious lymphadenopathy. The clinical course is influenced by a strong association with other autoimmune disorders and an increased risk for developing Hodgkin and non-Hodgkin lymphoma." "" + "otofaciocervical syndrome 2" "Any otofaciocervical syndrome in which the cause of the disease is a mutation in the PAX1 gene." "" + "complement factor b deficiency" "" + "retinitis pigmentosa 67" "Any retinitis pigmentosa in which the cause of the disease is a mutation in the NEK2 gene." "" + "nephrotic syndrome, type 9" "Any nephrotic syndrome in which the cause of the disease is a mutation in the COQ8B gene." "" + "congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome" "" + "disorder of asparagine metabolism" "" + "neuronopathy, distal hereditary motor, type 2D" "Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the FBXO38 gene." "" + "immunodeficiency, common variable, 10" "Any common variable immunodeficiency in which the cause of the disease is a mutation in the NFKB2 gene." "" + "growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome" "Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the SFXN4 gene." "" + "Rienhoff syndrome" "Loeys-Dietz syndrome-5 (LDS5), also known as Rienhoff (pronounced REENhoff) syndrome, is characterized by syndromic presentation of aortic aneurysms involving the thoracic and/or abdominal aorta, with risk of dissection and rupture. Other systemic features include cleft palate, bifid uvula, mitral valve disease, skeletal overgrowth, cervical spine instability, and clubfoot deformity; however, not all clinical features occur in all patients. In contrast to other forms of LDS, no striking aortic or arterial tortuosity is present in these patients, and there is no strong evidence for early aortic dissection." "" + "8q24.3 microdeletion syndrome" "" + "otosclerosis 10" "" + "Alzheimer disease 18" "Any Alzheimer disease in which the cause of the disease is a mutation in the ADAM10 gene." "" + "age related macular degeneration 15" "Any age-related macular degeneration in which the cause of the disease is a mutation in the C9 gene." "" + "severe combined immunodeficiency due to IKK2 deficiency" "Severe combined immunodeficiency due to IKK2 deficiency is a rare, genetic form of primary immunodeficiency characterized by life-threatening bacterial, fungal and viral infections with the onset in infancy, and failure to thrive. Typically, hypogammaglobulinemia or agammaglobulinemia and normal levels of T and B cells are present." "" + "combined immunodeficiency due to OX40 deficiency" "Combined immunodeficiency due to OX40 deficiency is a rare combined T and B cell immunodeficiency characterized by susceptibility to develop an aggressive, childhood-onset, disseminated, cutaneous and systemic Kaposi sarcoma." "" + "combined oxidative phosphorylation deficiency 19" "Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the LYRM4 gene." "" + "severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency" "" + "STT3A-CDG" "STT3A-CDG is a form of congenital disorders of N-linked glycosylation characterized by developmental delay, intellectual disability, failure to thrive, hypotonia and seizures. STT3A-CDG is caused by mutations in the gene STT3A (11q23.3)." "" + "STT3B-CDG" "STT3B-CDG is a form of congenital disorders of N-linked glycosylation characterized by intrauterine growth retardation, microcephaly, failure to thrive, developmental delay, intellectual disability, hypotonia, seizures, optic nerve atrophy and respiratory difficulties. Genital abnormalities (micropenis, hypoplastic scrotum, undescended testes) have also been reported. STT3B-CDG is caused by mutations in the gene STT3B (3p24.1)." "" + "palmoplantar keratoderma, Nagashima type" "Keratosis, Nagashima-type is a transgressive and nonprogressive palmoplantar keratoderma resembling a mild form of mal de Meleda." "" + "microcephaly-thin corpus callosum-intellectual disability syndrome" "Microcephaly-thin corpus callosum-intellectual disability syndrome is a rare, genetic, syndromic intellectual disability disease characterized by progressive postnatal microcephaly and global developmental delay, as well as moderate to profound intellectual disability, difficulty or inability to walk, pyramidal signs (including spasticity, hyperreflexia and extensor plantar response) and thin corpus callosum revealed by brain imaging. Ophthalmologic signs (including nystagmus, strabismus and abnormal retinal pigmentation), foot deformity and genital anomalies may also be associated." "" + "L-ferritin deficiency" "" + "Fanconi renotubular syndrome 3" "Any Fanconi syndrome in which the cause of the disease is a mutation in the EHHADH gene." "" + "combined immunodeficiency due to CD3gamma deficiency" "Combined immunodeficiency due to CD3gamma deficiency is an extremely rare genetic combined primary immunodeficiency characterized by a selective partial lymphopenia (T+/-B+NK+) phenotype and decreased CD3 complex resulting in a variable but usually mild clinical presentation ranging from asymptomatic until adulthood to high susceptibility to infections from early infancy with predominant automimmune manifestations." "" + "developmental dysplasia of the hip 2" "" + "immunodeficiency 18" "Immunodeficiency-18 is an autosomal recessive primary immunodeficiency characterized by onset in infancy or early childhood of recurrent infections. Immunologic work-up of the IMD18 SCID patients shows a T cell-negative, B cell-positive, natural killer (NK) cell-positive phenotype, whereas T-cell development is not impaired in the mild form of IMD18." "" + "obsolete arrhythmogenic right ventricular dysplasia, familial, 13" "" "true" + "immunodeficiency 19" "Any severe combined immunodeficiency in which the cause of the disease is a mutation in the CD3D gene." "" + "cholangiocarcinoma, susceptibility to" "" + "hereditary spastic paraplegia 72" "Any pure hereditary spastic paraplegia in which the cause of the disease is a mutation in the REEP2 gene." "" + "pure hereditary spastic paraplegia" "" + "autosomal dominant nonsyndromic hearing loss 56" "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the TNC gene." "" + "short-rib thoracic dysplasia 10 with or without polydactyly" "An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the IFT172 gene on chromosome 2p23." "" + "congenital dyserythropoietic anemia type type 1B" "" + "neuropathy, hereditary sensory, type 1F" "Any hereditary sensory and autonomic neuropathy type 1 in which the cause of the disease is a mutation in the ATL3 gene." "" + "short-rib thoracic dysplasia 11 with or without polydactyly" "An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the WDR34 gene on chromosome 9q34." "" + "Joubert syndrome 21" "Any Joubert syndrome in which the cause of the disease is a mutation in the CSPP1 gene." "" + "Joubert syndrome with Jeune asphyxiating thoracic dystrophy" "Joubert syndrome with Jeune asphyxiating thoracic dystrophy (JATD) is an extremely rare genetic bone disorder characterized by the classic features of Joubert syndrome (i.e. malformation of the brainstem causing ataxia, hypotonia,cognitive impairment, and abnormal eyemovements), associated with the skeletal anomalies found in JATD including short-rib dysplasia and narrow thorax causing respiratory failure, short limbs, and metaphyseal changes." "" + "macrocephaly-developmental delay syndrome" "Macrocephaly-developmental delay syndrome is a rare, intellectual disability syndrome characterized by macrocephaly, mild dysmorphic features (frontal bossing, long face, hooded eye lids with small, downslanting palpebral fissures, broad nasal bridge, and prominent chin), global neurodevelopmental delay, behavioral abnormalities (e.g. anxiety, stereotyped movements) and absence or generalized tonic-clonic seizures. Additional features reported in some patients include craniosynostosis, fifth finger clinodactyly, recurrent pneumonia, and hepatosplenomegally." "" + "neurodegeneration with brain iron accumulation 6" "COASY protein-associated neurodegeneration (CoPAN) is a very rare, slowly progressive form of neurodegeneration with brain iron accumulation (NBIA) characterized by classic NBIA features. The clinical manifestations include early-onset spastic-dystonic paraparesis, oromandibular dystonia, dysarthria, parkinsonism, axonal neuropathy, progressive cognitive impairment, complex motor tics, and obsessive-compulsive disorder." "" + "autosomal dominant nonsyndromic hearing loss 54" "An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 5q31." "" + "leukoencephalopathy with mild cerebellar ataxia and white matter edema" "" + "autosomal dominant nonsyndromic hearing loss 58" "An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 2p21-p12." "" + "chromosome 15q11.2 deletion syndrome" "15q11.2 microdeletion syndrome is a rare partial autosomal monosomy with a variable phenotypic expression and reduced penetrance associated with an increased susceptibility to neuropsychiatric or neurodevelopmental disorders including delayed psychomotor development, speech delay, autism spectrum disorder, attention deficit-hyperactivity disorder, obsessive-compulsive disorder, epilepsy or seizures. It may also include mild non-specific dysmorphic features (such as dysplastic ears, broad forehead, hypertelorism), cleft palate, neurological and neuroimaging abnormalities (such as ataxia and muscular hypotonia)." "" + "hereditary spastic paraplegia 57" "An extremely rare, complex type of hereditary spastic paraplegia, characterized by onset in infancy of pronounced leg spasticity (leading to the inability to walk independently), reduced visual acuity due to optic atrophy, and distal wasting of the hands and feet due to an axonal demyelinating sensorimotor neuropathy. SPG57 is caused by mutations in the TFG gene (3q12.2) encoding protein TFG, which is thought to play a role in ER microtubular architecture and function." "" + "Warburg micro syndrome 4" "Any Warburg micro syndrome in which the cause of the disease is a mutation in the TBC1D20 gene." "" + "Joubert syndrome 22" "Any Joubert syndrome in which the cause of the disease is a mutation in the PDE6D gene." "" + "chromosome 5q12 deletion syndrome" "PDE4D haploinsufficiency syndrome is a rare syndromic intellectual disability characterized by developmental delay, intellectual disability, low body mass index, long arms, fingers and toes, prominent nose and small chin." "" + "schwannomatosis 2" "" + "proximal myopathy with extrapyramidal signs" "Proximal myopathy with extrapyramidal signs is a rare, hereditary non-dystrophic myopathy characterized by proximal muscle weakness, delayed motor development, learning difficulties, and progressive extrapyramidal motor signs including chorea, dystonia and tremor. Variable additional features have been reported - ataxia, microcephaly, ophthalmoplegia, ptosis, and optic atrophy." "" + "dowling-degos disease 3" "" + "hereditary spastic paraplegia 62" "Autosomal recessive spastic paraplegia type 62 is a pure or complex form of hereditary spastic paraplegia characterized by an onset in the first decade of life of spastic paraperesis (more prominent in lower than upper extremities) and unsteady gait, as well as increased deep tendon reflexes, amyotrophy, cerebellar ataxia, and flexion contractures of the knees, in some." "" + "hereditary spastic paraplegia 64" "An extremely rare and complex form of hereditary spastic paraplegia (see this term), reported in only 4 patients from 2 families to date, characterized by spastic paraplegia (presenting between the ages of 1 to 4 years with abnormal gait) associated with microcephaly, amyotrophy, cerebellar signs (e.g. dysarthria) aggressiveness, delayed puberty and mild to moderate intellectual disability. SPG64 is due to mutations in the ENTPD1 gene (10q24.1), encoding ectonucleoside triphosphate diphosphohydrolase 1." "" + "hereditary spastic paraplegia 61" "A rare, complex form of hereditary spastic paraplegia characterized by an onset in infancy of spastic paraplegia (presenting with the inability to walk unsupported and a scissors gait) associated with a motor and sensory polyneuropathy with loss of terminal digits and acropathy. SPG61 is due to a mutation in the ARL6IP1 gene (16p12-p11.2) encoding the ADP-ribosylation factor-like protein 6-interacting protein 1." "" + "hereditary spastic paraplegia 63" "An extremely rare and complex form of hereditary spastic paraplegia characterized by an onset in infancy of spastic paraplegia (presenting with delayed walking and a scissors gait) associated with short stature, and normal cognition. Periventricular deep white matter changes in the corpus callosum are noted on brain imaging. SPG63 is caused by a homozygous mutation in the AMPD2 gene (1p13.3) encoding AMP deaminase 2." "" + "vasculitis due to ADA2 deficiency" "Vasculitis due to ADA2 deficiency is a rare, genetic, systemic and rheumatologic disease due to adenosine deaminase-2 inactivating mutations, combining variable features of autoinflammation, vasculitis, and a mild immunodeficiency. Variable clinical presentation includes chronic or recurrent systemic inflammation with fever, livedo reticularis or racemosa, early-onset ischemic or hemorrhagic strokes, peripheral neuropathy, abdominal pain, hepatosplenomegaly, portal hypertension, cutaneous polyarteritis nodosa, variable cytopenia and immunoglobulin deficiency." "" + "Dowling-Degos disease 4" "Any Dowling-Degos disease in which the cause of the disease is a mutation in the POGLUT1 gene." "" + "familial temporal lobe epilepsy 6" "A temporal lobe epilepsy that has material basis in variation in the chromosome region 3q25-q26." "" + "obesity due to CEP19 deficiency" "" + "hereditary sclerosing poikiloderma with tendon and pulmonary involvement" "Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome is a rare, genetic, hereditary poikiloderma syndrome characterized by early-onset poikiloderma (mainly on the face), hypotrichosis, hypohidrosis, muscle and tendon contractures with varus foot deformity, progressive proximal and distal muscle weakness in all extremities, and progressive pulmonary fibrosis. Mild lymphedema of the extremities, growth retardation, liver impairment, exocrine pancreatic insufficiency and hematologic abnormalities are additional variable features." "" + "autosomal recessive spinocerebellar ataxia 15" "Any autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome in which the cause of the disease is a mutation in the RUBCN gene." "" + "auriculocondylar syndrome 3" "" + "autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity" "" + "sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome" "" + "obsolete Mitchell-Riley syndrome" "" "true" + "Alzheimer disease 19" "Any Alzheimer disease in which the cause of the disease is a mutation in the PLD3 gene." "" + "pancytopenia-developmental delay syndrome" "" + "hyperphosphatasia with intellectual disability syndrome 4" "Any hyperphosphatasia-intellectual disability syndrome in which the cause of the disease is a mutation in the PGAP3 gene." "" + "renal hypodysplasia/aplasia 2" "Any renal agenesis in which the cause of the disease is a mutation in the FGF20 gene." "" + "renal agenesis" "Renal agenesis (RA) is a form of renal tract malformation characterized by the complete absence of development of one or both kidneys (unilateral RA or bilateral RA respectively), accompanied by absent ureter(s)." "" + "optic atrophy-intellectual disability syndrome" "Optic atrophy-intellectual disability syndrome is a rare, hereditary, syndromic intellectual disability characterized by developmental delay, intellectual disability, and significant visual impairment due to optic nerve atrophy, optic nerve hypoplasia or cerebral visual impairment. Other common clinical signs and symptoms are hypotonia, oromotor dysfunction, seizures, autism spectrum disorder, and repetitive behaviors. Dysmorphic facial features are variable and nonspecific." "" + "premature ovarian failure 8" "Any primary ovarian failure in which the cause of the disease is a mutation in the STAG3 gene." "" + "premature ovarian failure 9" "Any primary ovarian failure in which the cause of the disease is a mutation in the HFM1 gene." "" + "retinitis pigmentosa 68" "Any retinitis pigmentosa in which the cause of the disease is a mutation in the SLC7A14 gene." "" + "pachyonychia congenita 3" "Any pachyonychia congenita in which the cause of the disease is a mutation in the KRT6A gene." "" + "pachyonychia congenita 4" "Any pachyonychia congenita in which the cause of the disease is a mutation in the KRT6B gene." "" + "nemaline myopathy 9" "Any nemaline myopathy in which the cause of the disease is a mutation in the KLHL41 gene." "" + "palmoplantar keratoderma, nonepidermolytic, focal or diffuse" "" + "developmental and epileptic encephalopathy, 19" "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GABRA1 gene." "" + "atrial standstill 2" "Any atrial standstill in which the cause of the disease is a mutation in the NPPA gene." "" + "obsolete eculizumab, poor response to" "" "true" + "Moyamoya disease with early-onset achalasia" "Moyamoya disease with early-onset achalasia is an exceedingly rare autosomal recessive neurological disorder reported only in a few families so far. It is characterized by the association of early onset achalasia (manifesting in infancy) with severe intracranial angiopathy that is consistent with moyamoya angiopathy in most cases (moyamoya disease). Other variable associated manifestations include hypertension, Raynaud phenomenon, and livedo reticularis." "" + "hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency" "" + "polymicrogyria, bilateral perisylvian, autosomal recessive" "" + "severe combined immunodeficiency due to LCK deficiency" "" + "diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome" "" + "intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency" "" + "complex cortical dysplasia with other brain malformations 5" "Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the TUBB2A gene." "" + "IL21-related infantile inflammatory bowel disease" "" + "autosomal recessive spinocerebellar ataxia 16" "Any autosomal recessive cerebellar ataxia in which the cause of the disease is a mutation in the STUB1 gene." "" + "atrial fibrillation, familial, 15" "Any familial atrial fibrillation in which the cause of the disease is a mutation in the NUP155 gene." "" + "complex cortical dysplasia with other brain malformations 6" "Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the TUBB gene." "" + "female infertility due to zona pellucida defect" "Female infertility due to zona pellucida defect is a rare, genetic, female infertility disorder characterized by the presence of abnormal oocytes that lack a zona pellucida. Affected individuals are unable to conceive despite having normal menstrual cycles and sex hormone levels, as well as no obstructions in the fallopian tubes or defects of the uterus or adnexa." "" + "inherited oocyte maturation defect" "" + "female infertility due to fertilization defect" "True" + "Desbuquois dysplasia 2" "Any Desbuquois dysplasia in which the cause of the disease is a mutation in the XYLT1 gene." "" + "congenital heart defects, multiple types, 4" "Any congenital heart defects, multiple types in which the cause of the disease is a mutation in the NR2F2 gene." "" + "retinitis pigmentosa 69" "Any retinitis pigmentosa in which the cause of the disease is a mutation in the KIZ gene." "" + "white sponge nevus 2" "" + "short stature with microcephaly and distinctive facies" "" + "intellectual disability, autosomal recessive 42" "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the PGAP1 gene." "" + "pontocerebellar hypoplasia type 10" "Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the CLP1 gene." "" + "Seckel syndrome 8" "Any Seckel syndrome in which the cause of the disease is a mutation in the DNA2 gene." "" + "pontocerebellar hypoplasia type 9" "Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the AMPD2 gene." "" + "abdominal obesity-metabolic syndrome 3" "Any metabolic syndrome in which the cause of the disease is a mutation in the DYRK1B gene." "" + "immunodeficiency 23" "" + "intellectual disability, autosomal recessive 43" "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the WASHC4 gene." "" + "cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis" "" + "mitochondrial complex III deficiency nuclear type 7" "Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the UQCC2 gene." "" + "intellectual disability, autosomal dominant 24" "Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the DEAF1 gene." "" + "AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome" "" + "pigmented nodular adrenocortical disease, primary, 4" "Any primary pigmented nodular adrenocortical disease in which the cause of the disease is a mutation in the PRKACA gene." "" + "developmental and epileptic encephalopathy, 21" "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the NECAP1 gene." "" + "autism spectrum disorder due to AUTS2 deficiency" "Autism spectrum disorder due to AUTS2 deficiency is a rare genetic syndromic intellectual disability characterized by global developmental delay and borderline to severe intellectual disability, autism spectrum disorder with obsessive behavior, stereotypies, hyperactivity but frequently friendly and affable personality, feeding difficulties, short stature, muscular hypotonia, microcephaly, characteristic dysmorphic features (hypertelorism, high arched eyebrows, ptosis, deep and/or broad nasal bridge, broad/prominent nasal tip, short and/or upturned philtrum, narrow mouth, and micrognathia), and skeletal anomalies (kyphosis and/or scoliosis, arthrogryposis, slender habitus and extremities). Other clinical features may include hernias, congenital heart defects, cryptorchidism and seizures." "" + "chromosome 16 inversion, 0.45-Mb" "" + "autosomal recessive nonsyndromic hearing loss 101" "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the GRXCR2 gene." "" + "mitochondrial complex III deficiency nuclear type 8" "Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the LYRM7 gene." "" + "spermatogenic failure 13" "Any azoospermia in which the cause of the disease is a mutation in the TAF4B gene." "" + "spermatogenic failure 14" "Any azoospermia in which the cause of the disease is a mutation in the ZMYND15 gene." "" + "Aicardi-Goutieres syndrome 7" "Any Aicardi-Goutieres syndrome in which the cause of the disease is a mutation in the IFIH1 gene." "" + "melanoma, cutaneous malignant, susceptibility to, 10" "" + "postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome" "Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome is a rare, genetic developmental defect during embryogenesis characterized primarily by congenital hypopituitarism and/or postaxial polydactyly. It can be associated with short stature, delayed bone age, hypogonadotropic hypogonadism, and/or midline facial defects (e.g. hypotelorism, mild midface hypoplasia, flat nasal bridge, and cleft lip and/or palate). Hypoplastic anterior pituitary and ectopic posterior pituitary lobe are frequent findings on MRI examination." "" + "pontocerebellar hypoplasia type 2E" "Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the VPS53 gene." "" + "progressive cerebello-cerebral atrophy" "" + "developmental and epileptic encephalopathy, 23" "" + "cone-rod dystrophy 19" "Any cone-rod dystrophy in which the cause of the disease is a mutation in the TTLL5 gene." "" + "nephrotic syndrome, type 10" "Any nephrotic syndrome in which the cause of the disease is a mutation in the EMP2 gene." "" + "nephronophthisis 18" "Any nephronophthisis in which the cause of the disease is a mutation in the CEP83 gene." "" + "congenital diarrhea 7 with exudative enteropathy" "Congenital chronic diarrhea with protein-losing enteropathy is a rare, genetic, intestinal disease characterized by early-onset, chronic, non-infectious, non-bloody, watery diarrhea associated with protein-losing enteropathy which results in hypoalbuminemia, hypogammaglobulinemia and elevated stool alpha-1-antitrypsin. Patients typically present severe, intractable diarrhea, failure to thrive, recurrent infections and edema." "" + "intellectual disability, autosomal dominant 27" "" + "developmental and epileptic encephalopathy, 24" "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the HCN1 gene." "" + "primary ciliary dyskinesia 29" "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CCNO gene." "" + "ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder" "An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of ADNP on chromosome 20q13.13." "" + "colobomatous microphthalmia-rhizomelic dysplasia syndrome" "Colobomatous microphthalmia-rhizomelic dysplasia syndrome is a rare, genetic developmental defect during embryogenesis characterized by a range of developmental eye anomalies (including anophthalmia, microphthalmia, colobomas, microcornea, corectopia, cataract) and symmetric limb rhizomelia with short stature and contractures of large joints. Intellectual disability with autistic features, macrocephaly, dysmorphic features, urogenital anomalies (hypospadia, cryptorchidism), cutaneous syndactyly and precocious puberty may also be present." "" + "cholestasis, progressive familial intrahepatic, 4" "Any progressive familial intrahepatic cholestasis in which the cause of the disease is a mutation in the TJP2 gene." "" + "tall stature-intellectual disability-facial dysmorphism syndrome" "" + "myopathy, tubular aggregate, 2" "Any tubular aggregate myopathy in which the cause of the disease is a mutation in the ORAI1 gene." "" + "hypotrichosis 12" "Any hypotrichosis in which the cause of the disease is a mutation in the RPL21 gene." "" + "amelogenesis imperfecta hypomaturation type 2A5" "Any amelogenesis imperfecta in which the cause of the disease is a mutation in the SLC24A4 gene." "" + "platelet-type bleeding disorder 18" "Bleeding disorder due to CalDAG-GEFI deficiency is a rare hematologic disease due to defective platelet function and characterized by mucocutaneous bleeding starting in infancy (around 18 months of age), presenting with prolonged and severe epistaxis, hematomas and bleeding after tooth extraction. Massive menorrhagia and chronic anemia have also been reported." "" + "leukoencephalopathy, progressive, with ovarian failure" "" + "ovarioleukodystrophy" "" + "familial median cleft of the upper and lower lips" "Familial median cleft of the upper and lower lips is a rare and isolated orofacial defect characterized by incomplete median clefts of both the lower lip (limited to the vermilion, with no muscle involvement) and upper lip (with muscle involvement), double labial frenulum and fusion of the upper gingival and upper labial mucosa (resulting in a shallow upper vestibular fold), in addition to poor dental alignment, and increased interdental distance between the lower and upper median incisors. Variable expressivity has been reported in an affected family." "" + "polyglucosan body myopathy 1 with or without immunodeficiency" "A rare, genetic, glycogen storage disorder characterized by polyglucosan accumulation in various tissues, manifesting with progressive proximal muscle weakness in the lower limbs and rapidly progressive, usually dilated, cardiomyopathy. Hepatic involvement and growth retardation may be associated. Early-onset immunodeficiency and autoinflammation, presenting with recurrent bacterial infections, have also been reported." "" + "hypotrichosis 13" "Any hypotrichosis in which the cause of the disease is a mutation in the KRT71 gene." "" + "severe combined immunodeficiency due to CTPS1 deficiency" "Severe combined immunodeficiency (SCID) due to CTPS1 deficiency is a rare primary immunodeficiency disorder due to impaired capacity of activated T- and B-cells to proliferate in response to antigen receptor-mediated activation characterized by early-onset, severe, persistent and/or recurrent viral infections due to Epstein-Barr virus (EBV) and Varicella Zoster virus (VZV), (including generalized varicella), as well as recurrent sino-pulmonary bacterial infections due to encapsulated pathogens." "" + "developmental and epileptic encephalopathy, 25" "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SLC13A5 gene." "" + "lymphatic malformation 4" "Any hereditary lymphedema in which the cause of the disease is a mutation in the VEGFC gene." "" + "Diamond-Blackfan anemia 13" "Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS29 gene." "" + "frontotemporal dementia and/or amyotrophic lateral sclerosis 2" "An amyotrophic lateral sclerosis that has material basis in mutation in the CHCHD10 gene on chromosome 22. It is characterized by adult onset of either frontotemporal dementia and/or amyotrophic lateral sclerosis." "" + "dilated cardiomyopathy 1NN" "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the RAF1 gene." "" + "combined oxidative phosphorylation defect type 20" "Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the VARS2 gene." "" + "combined oxidative phosphorylation defect type 21" "Combined oxidative phosphorylation defect type 21 is a rare mitochondrial disease characterized by axial hypotonia with limb hypertonia, developmental delay, hyperlactatemia, central nervous system anomalies visible on magnetic resonance imaging (e.g. corpus callosum hypoplasia, lesions of the globus pallidus) and multiple deficiency of the mitochondrial respiratory chain complexes in muscle tissue, but not in fibroblasts or liver." "" + "ataxia-telangiectasia-like disorder 2" "" + "retinitis pigmentosa 70" "Any retinitis pigmentosa in which the cause of the disease is a mutation in the PRPF4 gene." "" + "tall stature-scoliosis-macrodactyly of the great toes syndrome" "Tall stature-scoliosis-macrodactyly of the great toes syndrome is a rare, genetic, overgrowth or tall stature syndrome with skeletal involvement characterized by early and proportional overgrowth, osteopenia, lumbar scoliosis, arachnodactyly of the hands and feet, macrodactyly of the hallux, coxa valga with epiphyseal dysplasia of the femoral capital epiphyses and susceptibility to slipped capital femoral epiphysis." "" + "severe neurodegenerative syndrome with lipodystrophy" "" + "short stature due to GHSR deficiency" "Short stature due to GHSR deficiency is a rare, genetic, endocrine growth disease, resulting from growth hormone secretagogue receptor (GHSR) deficiency, characterized by postnatal growth delay that results in short stature (less than -2 SD). The pituitary gland is typically without morphological changes, although anterior pituitary gland hypoplasia has been reported." "" + "Webb-Dattani syndrome" "" + "STING-associated vasculopathy with onset in infancy" "STING-associated vasculopathy with onset in infancy (SAVI) is a rare, genetic autoinflammatory disorder, type I interferonopathy due to constitutive STING (STimulator of INterferon Genes) activation, characterized by neonatal or infantile onset systemic inflammation and small vessel vasculopathy resulting in severe skin, pulmonary and joint lesions. Patients present with intermittent low-grade fever, recurrent cough and failure to thrive, in association with progressive interstitial lung disease, polyarthritis and violaceous scaling lesions on fingers, toes, nose, cheeks, and ears (which are exacerbated by cold exposure) that often progress to chronic acral ulceration, necrosis and autoamputation." "" + "pancreatic agenesis 2" "Any pancreatic agenesis in which the cause of the disease is a mutation in the PTF1A gene." "" + "megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2" "Any megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome in which the cause of the disease is a mutation in the AKT3 gene." "" + "megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3" "Any megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome in which the cause of the disease is a mutation in the CCND2 gene." "" + "intellectual disability, autosomal recessive 44" "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the METTL23 gene." "" + "spinocerebellar ataxia type 37" "Spinocerebellar ataxia type 37 (SCA37) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1), characterized by a cerebellar syndrome along with altered vertical eye movements." "" + "myopia 24, autosomal dominant" "" + "hyperlipoproteinemia, type 1D" "Any familial hyperlipidemia in which the cause of the disease is a mutation in the GPIHBP1 gene." "" + "orofaciodigital syndrome type 14" "Orofaciodigital syndrome type 14 is a rare subtype of orofaciodigital syndrome, with autosomal recessive inheritance and C2CD3 mutations, characterized by severe microcephaly, trigonocephaly, severe intellectual disability and micropenis, in addition to oral, facial and digital malformations (gingival frenulae, lingual hamartomas, cleft/lobulated tongue, cleft palate, telecanthus, up-slanting palpebral fissures, microretrognathia, postaxial polydactyly of hands and duplication of hallux). Corpus callosum agenesis and vermis hypoplasia with molar tooth sign, on brain imaging, are also associated." "" + "STAT3-related early-onset multisystem autoimmune disease" "" + "autoimmune hemolytic anemia" "Autoimmune hemolytic anemia (AIHA) is an autoimmune disorder in which various types of auto-antibodies are directed against red blood cells causing their survival to be shortened and resulting in hemolytic anemia." "" + "kallikrein, decreased urinary activity of" "" + "ACTH-independent macronodular adrenal hyperplasia 2" "Any Cushing syndrome due to macronodular adrenal hyperplasia in which the cause of the disease is a mutation in the ARMC5 gene." "" + "spinocerebellar ataxia type 38" "Spinocerebellar ataxia type 38 (SCA38) is a subtype of autosomal dominant cerebellar ataxia type 3 characterized by the adult-onset (average age: 40 years) of truncal ataxia, gait disturbance and gaze-evoked nystagmus. The disease is slowly progressive with dysarthria and limb ataxia following. Additional manifestations include diplopia and axonal neuropathy." "" + "myopathy, centronuclear, 5" "Any autosomal recessive centronuclear myopathy in which the cause of the disease is a mutation in the SPEG gene." "" + "ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome" "Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome is a rare neuro-ophthalmological disease characterized by nonprogressive cerebellar ataxia, delayed motor and language development, and intellectual disability in addition to ophthalmological abnormalities (e.g. oculomotor apraxia, strabismus, amblyopia, retinal dystrophy, and myopia). Cerebellar cysts, cerebellar dysplasia and cerebellar vermis hypoplasia, seen on magnetic resonance imaging, are also characteristic of the disease." "" + "short stature due to primary acid-labile subunit deficiency" "Short stature due to primary acid-labile subunit (ALS) deficiency is characterized by moderate postnatal growth deficit, markedly low circulating levels of insulin-like growth factor 1 (IGF-1) and insulin-like growth factor binding protein 3 (IGFBP-3), and hyperinsulinemia, in the absence of growth hormone (GH) deficiency or GH insensitivity." "" + "glucocorticoid resistance" "" + "vesicoureteral reflux 8" "Any vesicoureteral reflux in which the cause of the disease is a mutation in the TNXB gene." "" + "severe combined immunodeficiency due to DNA-PKcs deficiency" "Severe combined immunodeficiency (SCID) due to DNA-PKcs deficiency is an extremely rare type of SCID characterized by the classical signs of SCID (severe and recurrent infections, diarrhea, failure to thrive), absence of T and B lymphocytes, and cell sensitivity to ionizing radiation." "" + "obsolete congenital deficiency in alpha-fetoprotein" "Congenital deficiency in alpha-fetoprotein is a benign genetic condition characterized by a dramatically decreased level of alpha-fetoprotein in fetus or neonate." "" "true" + "obsolete hereditary persistence of alpha-fetoprotein" "Hereditary persistence of alpha-fetoprotein is a benign genetic condition characterized by persistence of high alpha-fetoprotein (AFP) levels throughout life, with no associated clinical disability and thus no need for specific therapy" "" "true" + "nanophthalmos 4" "Any nanophthalmia in which the cause of the disease is a mutation in the TMEM98 gene." "" + "cone-rod dystrophy 20" "Any cone-rod dystrophy in which the cause of the disease is a mutation in the POC1B gene." "" + "autosomal recessive nonsyndromic hearing loss 102" "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the EPS8 gene." "" + "autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency" "Autosomal dominant (AD) mendelian susceptibility to mycobacterial diseases (MSMD) due to partial interferon gamma receptor 1 (IFN-gammaR1) deficiency is a genetic variant of MSMD characterized by a partial deficiency leading to impaired IFN-gamma immunity and, consequently, recurrent, moderately severe infections with bacillus Calmette-GuC)rin (BCG) and other environmental mycobacteria (EM)." "" + "intellectual disability, autosomal recessive 45" "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the FBXO31 gene." "" + "LIPE-related familial partial lipodystrophy" "" + "Bardet-Biedl syndrome 2" "Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBS2 gene." "" + "retinitis pigmentosa 74" "Any retinitis pigmentosa in which the cause of the disease is a mutation in the BBS2 gene." "" + "Bardet-Biedl syndrome 4" "" + "Bardet-Biedl syndrome 5" "Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBS5 gene." "" + "Bardet-Biedl syndrome 7" "Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBS7 gene." "" + "Bardet-Biedl syndrome 8" "Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the TTC8 gene." "" + "Bardet-Biedl syndrome 9" "Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBS9 gene." "" + "Bardet-Biedl syndrome 10" "Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBS10 gene." "" + "Bardet-Biedl syndrome 11" "Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the TRIM32 gene." "" + "Bardet-Biedl syndrome 12" "Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBS12 gene." "" + "Bardet-Biedl syndrome 13" "Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the MKS1 gene." "" + "Bardet-Biedl syndrome 14" "A Bardet-Biedl syndrome that has material basis in homozygous mutation in the CEP290 gene on chromosome 12q21." "" + "Bardet-Biedl syndrome 15" "Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the WDPCP gene." "" + "Bardet-Biedl syndrome 16" "Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the SDCCAG8 gene." "" + "Bardet-Biedl syndrome 17" "Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the LZTFL1 gene." "" + "Bardet-Biedl syndrome 18" "Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBIP1 gene." "" + "Bardet-Biedl syndrome 19" "Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the IFT27 gene." "" + "hyperthyroxinemia, familial dysalbuminemic" "An inherited autosomal dominant trait characterized by abnormally elevated levels of total serum thyroxine; (T4) in euthyroid patients with abnormal serum albumin that binds T4 with enhanced affinity. The serum levels of free T4, free T3, and tsh are normal. It is one of several T4 abnormalities produced by non-thyroid disorder. This condition is due to mutations of the alb gene on chromosome 4." "" + "congenital analbuminemia" "Congenital analbuminemia (CAA) is characterized by the absence or dramatic reduction of circulating human serum albumin (HSA)." "" + "breasts and/or nipples, aplasia or hypoplasia of, 2" "Any isolated congenital breast hypoplasia/aplasia in which the cause of the disease is a mutation in the PTPRF gene." "" + "focal segmental glomerulosclerosis 7" "Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the PAX2 gene." "" + "congenital fibrinogen deficiency" "Congenital deficiencies of fibrinogen are coagulation disorders characterized by bleeding symptoms ranging from mild to severe resulting from reduced quantity and/or quality of circulating fibrinogen. Afibrinogenemia (complete absence of fibrinogen) and hypofibrinogenemia (reduced plasma fibrinogen concentration) correspond to quantitative anomalies of fibrinogen while dysfibrinogenemia corresponds to a functional anomaly of fibrinogen. Hypo- and dysfibrinogenemia may be frequently combined (hypodysfibrinogenemia)." "" + "immunodeficiency 36" "" + "Hennekam lymphangiectasia-lymphedema syndrome 2" "Any Hennekam syndrome in which the cause of the disease is a mutation in the FAT4 gene." "" + "cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome" "" + "genetic endocrine growth disease" "" + "autosomal recessive severe congenital neutropenia due to JAGN1 deficiency" "" + "hyperphosphatasia with intellectual disability syndrome 5" "Any hyperphosphatasia-intellectual disability syndrome in which the cause of the disease is a mutation in the PIGW gene." "" + "Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young" "Any Fanconi syndrome in which the cause of the disease is a mutation in the HNF4A gene." "" + "Adams-Oliver syndrome 5" "Any Adams-Oliver syndrome in which the cause of the disease is a mutation in the NOTCH1 gene." "" + "nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome" "Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome is a rare genetic ectodermal dysplasia syndrome characterized by short stature, nail dystrophy and/or nail loss, oral mucosa and/or tongue hyperpigmentation, dentition abnormalities (delayed teeth eruption, hypodontia, enamel hypoplasia), keratoderma on the margins of the palms and soles and focal hyperkeratosis on the dorsum of the hands and feet. Additionally, dysphagia with esophageal strictures, sensorineural deafness, bronchial asthma and severe iron-deficiency anemia have been observed." "" + "focal segmental glomerulosclerosis 8" "Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the ANLN gene." "" + "obsolete microcephaly, short stature, and impaired glucose metabolism" "" "true" + "progressive encephalopathy with leukodystrophy due to DECR deficiency" "Progressive encephalopathy with leukodystrophy due to DECR deficiency is a rare mitochondrial disease, which presents with neonatal hypotonia, central nervous system abnormalities (ventriculomegaly, corpus callosum hypoplasia, cerebellar atrophy), acquired microcephaly, failure to thrive, developmental delay and intermittent lactic acidosis provoked by catabolic stress (e.g. infection). Hyperlysinemia and elevated C10:2 carnitine can be detected in plasma. Later on, epilepsy, cerebellar ataxia, renal tubular acidosis, severe encephalopathy, dystonia, spastic quadriplegia and other complications may develop." "" + "primary ciliary dyskinesia 30" "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CCDC151 gene." "" + "Neu-Laxova syndrome 2" "Any Neu-Laxova syndrome in which the cause of the disease is a mutation in the PSAT1 gene." "" + "Charcot-Marie-Tooth disease recessive intermediate D" "Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the COX6A1 gene." "" + "congenital myasthenic syndrome 7" "Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the SYT2 gene." "" + "autosomal recessive nonsyndromic hearing loss 103" "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the CLIC5 gene." "" + "autosomal dominant nonsyndromic hearing loss 65" "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the TBC1D24 gene." "" + "periodic fever-infantile enterocolitis-autoinflammatory syndrome" "" + "microcephaly 13, primary, autosomal recessive" "Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CENPE gene." "" + "autosomal recessive limb-girdle muscular dystrophy type 2U" "Any autosomal recessive limb-girdle muscular dystrophy in which the cause of the disease is a mutation in the ISPD gene." "" + "qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan" "" + "spinocerebellar ataxia type 40" "Spinocerebellar ataxia type 40 (SCA40) is a very rare subtype of autosomal dominant cerebellar ataxia type 1, characterized by the adult-onset of unsteady gait and dysarthria, followed by wide-based gait, gait ataxia, ocular dysmetria, intention tremor, scanning speech, hyperreflexia and dysdiadochokinesis." "" + "episodic ataxia type 8" "" + "developmental and epileptic encephalopathy, 26" "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the KCNB1 gene." "" + "mirror movements 3" "Any familial congenital mirror movements in which the cause of the disease is a mutation in the DNAL4 gene." "" + "porokeratosis 8, disseminated superficial actinic type" "" + "46,XY sex reversal 9" "" + "inflammatory skin and bowel disease, neonatal, 2" "Any neonatal inflammatory skin and bowel disease in which the cause of the disease is a mutation in the EGFR gene." "" + "intellectual disability, autosomal dominant 29" "Any intellectual disability-expressive aphasia-facial dysmorphism syndrome in which the cause of the disease is a mutation in the SETBP1 gene." "" + "intellectual disability-expressive aphasia-facial dysmorphism syndrome" "" + "retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies" "" + "microcephaly 12, primary, autosomal recessive" "Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CDK6 gene." "" + "pontocerebellar hypoplasia, type 1C" "Any pontocerebellar hypoplasia type 1 in which the cause of the disease is a mutation in the EXOSC8 gene." "" + "intellectual disability, autosomal dominant 30" "Any intellectual disability-expressive aphasia-facial dysmorphism syndrome in which the cause of the disease is a mutation in the ZMYND11 gene." "" + "congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome" "Congenital sideroblastic anemia -B cell immunodeficiency- periodic fever-developmental delay syndrome is a form of constitutional sideroblastic anemia, characterized by severe microcytic anemia, B-cell lymphopenia, panhypogammaglobulinemia and variable neurodegeneration. The disease presents in infancy with recurrent febrile illnesses, gastrointestinal disturbances, developmental delay, seizures, ataxia and sensorineural deafness. Most patients require regular blood transfusion, iron chelation, and intravenous immunoglobulin (IVIG) replacement. Stem cell transplantation has been reported to be successful." "" + "diabetes mellitus, noninsulin-dependent, 5" "Any type 2 diabetes mellitus in which the cause of the disease is a mutation in the TBC1D4 gene." "" + "limb-girdle muscular dystrophy due to POMK deficiency" "Limb-girdle muscular dystrophy due to POMK deficiency is a form of limb-girdle muscular dystrophy presenting in infancy with muscle weakness and delayed motor development (eventually learning to walk at 18 months of age) followed by progressive proximal weakness, pseudohypertrophy of calf muscles, mild facial weakness, and borderline intelligence." "" + "ketoacidosis due to monocarboxylate transporter-1 deficiency" "" + "disorder of ketone body transport" "" + "immunodeficiency 37" "Any primary immunodeficiency disease in which the cause of the disease is a mutation in the BCL10 gene." "" + "woolly hair-palmoplantar keratoderma syndrome" "Woolly hair-palmoplantar keratoderma syndrome is a very rare, hereditary epidermal disorder characterized by hypotrichosis/woolly scalp hair, sparse body hair, eyelashes and eyebrows, leukonychia, and striate palmoplantar keratoderma (more severe on the soles than the palms), which progressively worsens with age. Pseudo ainhum of the fifth toes was also reported. Although woolly hair-palmoplantar keratoderma syndrome shares clinical similarities with both Naxos disease and Carvajal syndrome, cardiomyopathy is notably absent." "" + "autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency" "A somatic mutation in the CTLA4 gene resulting in only a single functional gene. Haploinsufficiency for CTLA4 is associated with autoimmune lymphoproliferative syndrome, type V." "" + "psoriasis 15, pustular, susceptibility to" "Any generalized pustular psoriasis in which the cause of the disease is a mutation in the AP1S3 gene." "" + "retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome" "" + "mitochondrial complex III deficiency nuclear type 9" "Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the UQCC3 gene." "" + "polyendocrine-polyneuropathy syndrome" "" + "familial cold autoinflammatory syndrome 4" "Any familial cold autoinflammatory syndrome in which the cause of the disease is a mutation in the NLRC4 gene." "" + "intellectual disability, autosomal recessive 46" "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the NDST1 gene." "" + "atrial conduction disease" "Atrial conduction disorder is a form of heart disease in which the conduction of the cardiac atrium is disrupted." "" + "macular degeneration, early-onset" "" + "mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency" "Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete ISG15 deficiency is a genetic variant of MSMD characterized by Bacille Calmette-GuC)rin (BCG) infections." "" + "autosomal recessive spinocerebellar ataxia 17" "Any autosomal recessive congenital cerebellar ataxia in which the cause of the disease is a mutation in the CWF19L1 gene." "" + "Perrault syndrome 5" "Any Perrault syndrome in which the cause of the disease is a mutation in the TWNK gene." "" + "developmental and epileptic encephalopathy, 27" "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GRIN2B gene." "" + "hypomyelinating leukodystrophy 9" "Any leukodystrophy in which the cause of the disease is a mutation in the RARS gene." "" + "Catel-Manzke syndrome" "Catel-Manzke syndrome is a rare bone disease characterized by bilateral hyperphalangy and clinodactyly of the index finger typically in association with Pierre Robin sequence comprising micrognathia, cleft palate and glossoptosis." "" + "vitelliform macular dystrophy 4" "Any vitelliform macular dystrophy in which the cause of the disease is a mutation in the IMPG1 gene." "" + "vitelliform macular dystrophy 5" "Any vitelliform macular dystrophy in which the cause of the disease is a mutation in the IMPG2 gene." "" + "fatty acyl-CoA reductase 1 deficiency" "" + "fatty acyl-CoA reductase defects" "Any disorder of plasmalogen biosynthesis in which the cause of the disease is a mutation in the FAR1 gene." "" + "Charcot-Marie-Tooth disease axonal type 2S" "Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the IGHMBP2 gene." "" + "PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation" "PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation is a rare, genetic neurological disease, with a highly variable phenotype, typically characterized by neonatal hypotonia, respiratory and feeding difficulties, global development delay (often with nonverbal and frequently non-ambulatory progression) and myopathic facies. Other frequently present features include seizures (or seizure-like episodes), visual impairment and encephalopathy." "" + "PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome" "" + "nemaline myopathy 10" "Any nemaline myopathy in which the cause of the disease is a mutation in the LMOD3 gene." "" + "aortic aneurysm, familial thoracic 9" "Any familial thoracic aortic aneurysm and aortic dissection in which the cause of the disease is a mutation in the MFAP5 gene." "" + "macular dystrophy with central cone involvement" "" + "microcephaly and chorioretinopathy 2" "Any microcephaly and chorioretinopathy in which the cause of the disease is a mutation in the PLK4 gene." "" + "generalized epilepsy with febrile seizures plus, type 9" "Any generalized epilepsy with febrile seizures plus in which the cause of the disease is a mutation in the STX1B gene." "" + "platelet-type bleeding disorder 19" "Any isolated hereditary giant platelet disorder in which the cause of the disease is a mutation in the PRKACG gene." "" + "chronic mountain sickness, susceptibility to" "" + "46,XX ovarian dysgenesis-short stature syndrome" "" + "progressive myoclonic epilepsy type 7" "Any progressive myoclonic epilepsy in which the cause of the disease is a mutation in the KCNC1 gene." "" + "retinal dystrophy and obesity" "" + "juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome" "" + "intellectual disability, autosomal recessive 47" "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the FMN2 gene." "" + "combined oxidative phosphorylation defect type 23" "Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the GTPBP3 gene." "" + "polyglucosan body myopathy type 2" "Any polyglucosan body myopathy in which the cause of the disease is a mutation in the GYG1 gene." "" + "progeroid features-hepatocellular carcinoma predisposition syndrome" "" + "chronic atrial and intestinal dysrhythmia" "A syndrome characterized by a unique combination of cardiac arrhythmias and intestinal pseudo-obstruction. It has material basis in the mutated SGOL1 protein. Distinctive clinical features include atrial dysrhythmias, sick sinus syndrome (SSS) and valve anomalies and chronic intestinal pseudo-obstruction (CIPO)." "" + "cerebellar-facial-dental syndrome" "" + "autosomal recessive spinocerebellar ataxia 18" "Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency is a rare, genetic, slowly progressive neurodegenerative disease resulting from GRID2 deficiency characterized by motor, speech and cognitive delay, hypotonia, truncal and appendicular ataxia, and eye movement abnormalities (tonic upgaze, nystagmus, oculomotor apraxia). Intention tremor may also be associated. Brain imaging reveals progressive cerebellar atrophy with cerebellar flocculus particularly affected." "" + "amyotrophic lateral sclerosis type 22" "Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the TUBA4A gene." "" + "autosomal dominant mitochondrial myopathy with exercise intolerance" "" + "developmental and epileptic encephalopathy, 28" "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the WWOX gene." "" + "lissencephaly 6 with microcephaly" "Any microlissencephaly in which the cause of the disease is a mutation in the KATNB1 gene." "" + "hyperproinsulinemia" "" + "thrombocytopenia 5" "Any thrombocytopenia in which the cause of the disease is a mutation in the ETV6 gene." "" + "nephronophthisis 19" "Any nephronophthisis in which the cause of the disease is a mutation in the DCDC2 gene." "" + "fibrosis of extraocular muscles, congenital, 5" "Any congenital fibrosis of extraocular muscles in which the cause of the disease is a mutation in the COL25A1 gene." "" + "focal segmental glomerulosclerosis 9" "Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the CRB2 gene." "" + "amelogenesis imperfecta type 1H" "Any amelogenesis imperfecta in which the cause of the disease is a mutation in the ITGB6 gene." "" + "motor developmental delay due to 14q32.2 paternally expressed gene defect" "A cause of obesity that results from inheritance of two copies of chromosome 14 from the mother, and no copy of chromosome 14 from the father." "" + "congenital myasthenic syndrome 15" "Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the ALG14 gene." "" + "congenital myasthenic syndrome 14" "Any congenital myasthenic syndromes with glycosylation defect in which the cause of the disease is a mutation in the ALG2 gene." "" + "osteogenesis imperfecta type 16" "An osteogenesis imperfecta that has material basis in contiguous gene deletion on chromosome 11p11." "" + "progressive myoclonic epilepsy type 8" "Any progressive myoclonic epilepsy in which the cause of the disease is a mutation in the CERS1 gene." "" + "myopathy due to calsequestrin and SERCA1 protein overload" "Myopathy due to calsequestrin and SERCA1 protein overload is characterised by mild myopathy or elevated levels of creatine kinase in the blood without associated symptoms." "" + "combined oxidative phosphorylation defect type 24" "Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the NARS2 gene." "" + "long QT syndrome 14" "Any long QT syndrome in which the cause of the disease is a mutation in the CALM1 gene." "" + "lethal congenital contracture syndrome 6" "Any lethal congenital contracture syndrome in which the cause of the disease is a mutation in the ZBTB42 gene." "" + "long QT syndrome 15" "Any long QT syndrome in which the cause of the disease is a mutation in the CALM2 gene." "" + "short stature with nonspecific skeletal abnormalities" "" + "lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome" "Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome is a rare, genetic developmental defect during embryogenesis malformation syndrome characterized by intrauterine growth restriction, flexion arthrogryposis of all joints, severe microcephaly, renal cystic dysplasia/agenesis/hypoplasia and complex malformations of the brain (cerebral and cerebellar hypoplasia, vermis, corpus callosum and/or occipital lobe agenesis, with or without arhinencephaly), as well as of the genitourinary tract (ureteral agenesis/hypoplasia, uterine hypoplasia and/or vaginal atresia), leading to fetal demise." "" + "Tenorio syndrome" "" + "obsolete infantile multisystem neurologic-endocrine-pancreatic disease" "" "true" + "peeling skin syndrome type A" "Peeling skin syndrome (PSS) type A is a non inflammatory form of generalized PSS, a type of ichthyosis, characterized by generalized white scaling and superficial painless peeling of the skin." "" + "congenital contractures of the limbs and face, hypotonia, and developmental delay" "" + "ataxia - oculomotor apraxia type 4" "Any oculomotor apraxia or related oculomotor disease in which the cause of the disease is a mutation in the PNKP gene." "" + "autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome" "" + "progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome" "" + "amelogenesis imperfecta type 1F" "Any amelogenesis imperfecta in which the cause of the disease is a mutation in the AMBN gene." "" + "3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia" "Any 3-methylglutaconic aciduria in which the cause of the disease is a mutation in the CLPB gene." "" + "neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome" "" + "mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency" "" + "Leigh syndrome with leukodystrophy" "" + "congenital bile acid synthesis defect 5" "Any congenital bile acid synthesis defect in which the cause of the disease is a mutation in the ABCD3 gene." "" + "disorder of peroxisomal transporter" "Any peroxisomal single enzyme/protein defect that disrupts peroxisomal transport." "" + "cataract 43" "Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the UNC45B gene." "" + "Charcot-Marie-Tooth disease axonal type 2U" "Autosomal dominant Charcot-Marie-Tooth disease type 2U (CMT2U) is a subtype of autosonal dominant Charcot-Marie-Tooth disease type 2 characterized by late adult-onset (50-60 years of age) of slowly progressive, axonal, peripheral sensorimotor neuropathy resulting in distal upper limb and proximal and distal lower limb muscle weakness and atrophy, in conjunction with distal, panmodal sensory impairment in upper and lower limbs. Tendon reflexes are reduced and nerve conduction velocities range from reduced to absent. Neuropathic pain has also been associated." "" + "glutamate pyruvate transaminase 2 deficiency" "" + "hereditary spastic paraplegia 73" "Autosomal dominant spastic paraplegia type 73 (SPG73) is a pure form of hereditary spastic paraplegia characterized by adult onset of crural spastic paraparesis, hyperreflexia, extensor plantar responses, proximal muscle weakness, mild muscle atrophy, decreased vibration sensation at ankles, and mild urinary dysfunction. foot deformities have been reported to eventually occur in some patients. No abnormalities are noted on brain magnetic resonance imaging and peripheral nerve conduction velocity studies." "" + "lethal congenital contracture syndrome 7" "Any lethal congenital contracture syndrome in which the cause of the disease is a mutation in the CNTNAP1 gene." "" + "hypomyelination neuropathy-arthrogryposis syndrome" "Hypomyelination neuropathy-arthrogryposis syndrome is a rare, genetic, limb malformation syndrome characterized by multiple congenital distal joint contractures (incl. talipes equinovarus and both proximal and distal interphalangeal joint contractures of the hands) and very severe motor paralysis at birth (i.e. lack of swallowing, autonomous respiratory function and deep tendon reflexes), leading to death within first 3 months of life. Fetal hypo- or akinesia, late-onset polyhydramnios and dramatically reduced, or absent, motor nerve conduction velocities (<10 m/s) are frequently associated. Nerve ultrastructural morphology shows severe abnormalities of the nodes of Ranvier and myelinated axons." "" + "lethal congenital contracture syndrome 8" "Any lethal congenital contracture syndrome in which the cause of the disease is a mutation in the ADCY6 gene." "" + "optic atrophy 9" "" + "Lichtenstein-Knorr syndrome" "" + "Cole-Carpenter syndrome 2" "Any Cole-Carpenter syndrome in which the cause of the disease is a mutation in the SEC24D gene." "" + "peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome" "" + "Singleton-Merten syndrome 2" "Any singleton-Merten dysplasia in which the cause of the disease is a mutation in the DDX58 gene." "" + "lipoyl transferase 1 deficiency" "" + "short-rib thoracic dysplasia 13 with or without polydactyly" "An asphyxiating thoracic dystrophy that has material basis in homozygous mutation in the CEP120 gene on chromosome 5q23." "" + "congenital myasthenic syndrome 17" "Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the LRP4 gene." "" + "Senior-Loken syndrome 8" "Any Senior-Loken syndrome in which the cause of the disease is a mutation in the WDR19 gene." "" + "intellectual disability, autosomal dominant 33" "Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the DPP6 gene." "" + "congenital myasthenic syndrome 2A" "A congenital myasthenic syndrome characterized by autosomal dominant inheritance of postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and prolonged opening and activity of the acetylcholine receptor channel that has material basis in heterozygous mutation in the CHRNB1 gene on chromosome 17p13." "" + "congenital myasthenic syndrome 2C" "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset muscle weakness, and low amplitude of the miniature endplate potential and current that has material basis in ompound heterozygous mutation in the CHRNB1 gene on chromosome 17p13." "" + "congenital myasthenic syndrome 3A" "A congenital myasthenic syndrome characterized by autosomal dominant inheritance of postsynaptic neuromuscular junction defects resulting in prolonged synaptic currents and early-onset progressive muscle weakness that has material basis in heterozygous mutation in the CHRND gene on chromosome 2q37." "" + "congenital myasthenic syndrome 3B" "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects resulting in rapid decay in endplate current and a failure to reach the threshold for depolarization and early onset progressive muscular weakness that has material basis in homozygous or compound heterozygous mutation in the CHRND gene on chromosome 2q37." "" + "congenital myasthenic syndrome 3C" "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, low amplitude of the miniature endplate potential and current, and early-onset muscle weakness that has material basis in compound heterozygous mutation in the CHRND gene on chromosome 2q37." "" + "congenital myasthenic syndrome 4B" "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and kinetic abnormalities of the AChR channel that has material basis in homozygous or compound heterozygous mutation in the CHRNE gene on chromosome 17p13." "" + "congenital myasthenic syndrome 9" "Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the MUSK gene." "" + "congenital myasthenic syndrome 11" "Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the RAPSN gene." "" + "maturity-onset diabetes of the young type 13" "Any maturity-onset diabetes of the young in which the cause of the disease is a mutation in the KCNJ11 gene." "" + "congenital myasthenic syndrome 18" "Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the SNAP25 gene." "" + "autosomal dominant Robinow syndrome 2" "Any autosomal dominant Robinow syndrome in which the cause of the disease is a mutation in the DVL1 gene." "" + "microcephaly and chorioretinopathy 3" "Any microcephaly and chorioretinopathy in which the cause of the disease is a mutation in the TUBGCP4 gene." "" + "developmental and epileptic encephalopathy, 29" "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the AARS gene." "" + "autosomal dominant nonsyndromic hearing loss 67" "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the OSBPL2 gene." "" + "developmental and epileptic encephalopathy, 30" "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SIK1 gene." "" + "lissencephaly 7 with cerebellar hypoplasia" "" + "immunodeficiency 39" "Any primary immunodeficiency disease in which the cause of the disease is a mutation in the IRF7 gene." "" + "developmental and epileptic encephalopathy, 31" "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the DNM1 gene." "" + "intellectual disability, autosomal dominant 34" "Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the COL4A3BP gene." "" + "dyskeratosis congenita, autosomal recessive 6" "Any dyskeratosis congenita in which the cause of the disease is a mutation in the PARN gene." "" + "autosomal recessive spinocerebellar ataxia 20" "Any autosomal recessive cerebellar ataxia in which the cause of the disease is a mutation in the SNX14 gene." "" + "intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome" "An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of PPP2R5D on chromosome 6p21.1." "" + "autosomal dominant nonsyndromic hearing loss 40" "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the CRYM gene." "" + "Parkinson disease 21" "Any hereditary late onset Parkinson disease in which the cause of the disease is a mutation in the DNAJC13 gene." "" + "microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome" "" + "intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome" "Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome is a rare, genetic, syndromic intellecutal disability disorder characterized by craniofacial dysmorphism (microcephaly, hypotonic facies, strabismus, long and flat malar region, posteriorly rotated ears, flat nasal bridge with broad nasal tip, short philtrum, thin vermillion border, open mouth with down-turned corners, high arched palate, pointed chin), global developmental delay, intellectual disability and variable neurobehavioral abnormalities (autism spectrum disorder, aggressivness, self injury). Additional features include vision abnormalities and variable sensorineural hearing loss, as well as short stature, hypotonia and gastrointestinal manifestations (e.g. poor feeding, gastroesophageal reflux, constipation)." "" + "developmental and epileptic encephalopathy, 32" "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the KCNA2 gene." "" + "mandibulofacial dysostosis with alopecia" "A syndrome characterized by malar and mandibular hypoplasia, typically associated with abnormalities of the ears and eyelids, and with alopecia." "" + "cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome" "" + "obsolete ciliary dyskinesia, primary, 31" "" "true" + "multiple mitochondrial dysfunctions syndrome 4" "Any fatal multiple mitochondrial dysfunctions syndrome in which the cause of the disease is a mutation in the ISCA2 gene." "" + "pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4" "Any pulmonary fibrosis and/or bone marrow failure, Telomere-related in which the cause of the disease is a mutation in the PARN gene." "" + "pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3" "Any pulmonary fibrosis and/or bone marrow failure, Telomere-related in which the cause of the disease is a mutation in the RTEL1 gene." "" + "congenital stationary night blindness 1G" "A congenital stationary night blindness characterized by autosomal recessive inheritance that has material basis in homozygous mutation in the GNAT1 gene on chromosome 3p21." "" + "trichothiodystrophy 2, photosensitive" "" + "Skint1-like pseudogene" "" + "intellectual disability, autosomal dominant 38" "Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the EEF1A2 gene." "" + "retinitis pigmentosa 71" "Any retinitis pigmentosa in which the cause of the disease is a mutation in the IFT172 gene." "" + "trichothiodystrophy 3, photosensitive" "" + "myoclonic dystonia 26" "Any myoclonus-dystonia syndrome in which the cause of the disease is a mutation in the KCTD17 gene." "" + "Brugada syndrome 9" "Any Brugada syndrome in which the cause of the disease is a mutation in the KCND3 gene." "" + "isolated focal non-epidermolytic palmoplantar keratoderma" "" + "microcephaly 14, primary, autosomal recessive" "Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the SASS6 gene." "" + "Brown syndrome" "Brown syndrome is a rare eye disorder characterized by defects in eye movements caused by abnormalities of the superior oblique tendon sheath of the superior oblique muscle." "" + "developmental and epileptic encephalopathy, 33" "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the EEF1A2 gene." "" + "spinocerebellar ataxia type 41" "Spinocerebellar ataxia type 41 is a rare autosomal dominant cerebellar ataxia type III disorder characterized by adult-onset progressive imbalance and loss of coordination associated with an ataxic gait. Mild atrophy of the cerebellar vermis has been reported on brain magnetic resonance imaging." "" + "dystonia 27" "Any dystonic disorder in which the cause of the disease is a mutation in the COL6A3 gene." "" + "basal ganglia calcification, idiopathic, 6" "Any bilateral striopallidodentate calcinosis in which the cause of the disease is a mutation in the XPR1 gene." "" + "autoimmune interstitial lung disease-arthritis syndrome" "A respiratory disease characterized by interstitial lung disease (often with pulmonary hemorrhage) and inflammatory arthritis, associated with high-titer autoantibodies (including anti-nuclear and anti-neutrophil cytoplasmic antibodies, and rheumatoid factor). Patients present from infancy to adolescence with tachypnea, cough, hemoptysis, and/or joint pain. Some patients may also develop glomerular disease." "" + "secondary interstitial lung disease specific to childhood associated with a systemic disease" "True" + "NTHL1-related attenuated familial adenomatous polyposis" "" + "hypomagnesemia, seizures, and intellectual disability" "" + "hypomyelinating leukodystrophy 10" "Any leukodystrophy in which the cause of the disease is a mutation in the PYCR2 gene." "" + "myoclonic-atonic epilepsy" "" + "46,XY sex reversal 10" "" + "microphthalmia, isolated, with coloboma 10" "Any microphthalmia, isolated, with coloboma in which the cause of the disease is a mutation in the RBP4 gene." "" + "combined oxidative phosphorylation defect type 25" "Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the MARS2 gene." "" + "DOCK2 deficiency" "" + "Fanconi anemia complementation group T" "Any Fanconi anemia in which the cause of the disease is a mutation in the UBE2T gene." "" + "familial temporal lobe epilepsy 7" "A temporal lobe epilepsy characterized by autosomal dominant inheritance of focal seizures with prominent auditory symptoms and that has material basis in heterozygous mutation in the RELN gene on chromosome 7q22." "" + "frontotemporal dementia and/or amyotrophic lateral sclerosis 3" "An amyotrophic lateral sclerosis that has material basis in mutation in the SQSTM1 gene on chromosome 5q35." "" + "frontotemporal dementia and/or amyotrophic lateral sclerosis 4" "An amyotrophic lateral sclerosis that has material basis in mutation in the TBK1 gene on chromosome 12q14." "" + "candidiasis, familial, 9" "Any chronic mucocutaneous candidiasis in which the cause of the disease is a mutation in the IL17RC gene." "" + "congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome" "" + "hereditary spastic paraplegia 74" "Autosomal recessive spastic paraplegia type 74 is a rare, genetic, spastic paraplegia-optic atrophy-neuropathy-related (SPOAN-like) disorder characterized by childhood onset of mild to moderate spastic paraparesis which manifests with gait impairment that very slowly progresses into late adulthood, hyperactive patellar reflex and bilateral extensor plantar response, in association with optic atrophy and typical symptoms of peripheral neuropathy, including reduced or absent ankle reflexes, lower limb atrophy and distal sensory impairment. Reduced visual acuity and pes cavus are frequently reported." "" + "BENTA disease" "BENTA disease (B cell Expansion with N F-N:B and T cell Anergy) is a very rare congenital immune deficiency disorder. The main symptoms include spleen enlargement (splenomegalia) and frequent ear, sinus, and lung infections early in life. Some patients can present with molluscum contagiosum or chronic Epstein-Barr virus (EBV) infection. Blood exams show alterations of several immune cells with very high numbers of polyclonal B cell lymphocytos (above 2200/N "Zimmermann-Laband syndrome 2" "Any Zimmermann-Laband syndrome in which the cause of the disease is a mutation in the ATP6V1B2 gene." "" + "developmental and epileptic encephalopathy, 50" "" + "Al-Raqad syndrome" "" + "intellectual disability, autosomal recessive 50" "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the EDC3 gene." "" + "familial temporal lobe epilepsy 8" "A temporal lobe epilepsy characterized by autosomal dominant inheritance of complex partial seizures with occasional secondary generalization and that has material basis in heterozygous mutation in the GAL gene on chromosome 11q13." "" + "acrofacial dysostosis Cincinnati type" "Any acrofacial dysostosis in which the cause of the disease is a mutation in the POLR1A gene." "" + "exudative vitreoretinopathy 6" "Any exudative vitreoretinopathy in which the cause of the disease is a mutation in the ZNF408 gene." "" + "retinitis pigmentosa 72" "Any retinitis pigmentosa in which the cause of the disease is a mutation in the ZNF408 gene." "" + "Ullrich congenital muscular dystrophy 2" "Any Ullrich congenital muscular dystrophy in which the cause of the disease is a mutation in the COL12A1 gene." "" + "obsolete Bethlem myopathy 2" "" "true" + "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2" "Any progressive external ophthalmoplegia with mitochondrial DNA deletions in which the cause of the disease is a mutation in the RNASEH1 gene." "" + "adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy" "Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy is a rare mitochondrial disease characterized by adult onset of progressive external ophthalmoplegia, exercise intolerance, muscle weakness, manifestations of spinocerebellar ataxia (e.g. impaired gait, dysarthria) and mild motor peripheral neuropathy. Respiratory insufficiency has been reported in some cases." "" + "primary ciliary dyskinesia 32" "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the RSPH3 gene." "" + "infantile liver failure syndrome 2" "Any infantile liver failure in which the cause of the disease is a mutation in the NBAS gene." "" + "microcephaly 15, primary, autosomal recessive" "" + "epidermolysis bullosa simplex with nail dystrophy" "" + "congenital insensitivity to pain-hypohidrosis syndrome" "A hereditary sensory neuropathy characterized by congenital insensitivity to pain and decreased sweating and tear production that has material basis in homozygous mutation in the PRDM12 gene on chromosome 9q34." "" + "Silver-Russell syndrome 3" "" + "Joubert syndrome 23" "Any Joubert syndrome in which the cause of the disease is a mutation in the KIAA0586 gene." "" + "Charcot-Marie-Tooth disease axonal type 2V" "Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the NAGLU gene." "" + "hypomyelinating leukodystrophy 11" "Any leukodystrophy in which the cause of the disease is a mutation in the POLR1C gene." "" + "cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3" "Any fatal infantile encephalocardiomyopathy in which the cause of the disease is a mutation in the COA5 gene." "" + "cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4" "Any fatal infantile encephalocardiomyopathy in which the cause of the disease is a mutation in the COA6 gene." "" + "cone-rod dystrophy 21" "Any cone-rod dystrophy in which the cause of the disease is a mutation in the DRAM2 gene." "" + "lethal congenital contracture syndrome 9" "Any lethal congenital contracture syndrome in which the cause of the disease is a mutation in the ADGRG6 gene." "" + "neuropathy, hereditary motor and sensory, type 6B" "Any hereditary motor and sensory neuropathy type 6 in which the cause of the disease is a mutation in the SLC25A46 gene." "" + "osteogenesis imperfecta type 17" "Any osteogenesis imperfecta in which the cause of the disease is a mutation in the SPARC gene." "" + "cataract 44" "Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the LSS gene." "" + "maturity-onset diabetes of the young type 14" "Any maturity-onset diabetes of the young in which the cause of the disease is a mutation in the APPL1 gene." "" + "autosomal recessive nonsyndromic hearing loss 104" "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the RIPOR2 gene." "" + "Emery-Dreifuss muscular dystrophy 3, autosomal recessive" "Any autosomal recessive Emery-Dreifuss muscular dystrophy in which the cause of the disease is a mutation in the LMNA gene." "" + "achromatopsia 7" "Any achromatopsia in which the cause of the disease is a mutation in the ATF6 gene." "" + "ATF6 retinopathy" "A retinopathy caused by biallelic variants in the AFT6 gene." "" + "intellectual disability, autosomal dominant 39" "Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the MYT1L gene." "" + "polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis" "" + "herpes simplex encephalitis, susceptibility to, 7" "Any herpes simplex encephalitis in which the cause of the disease is a mutation in the IRF3 gene." "" + "thyroid cancer, nonmedullary, 4" "Any thyroid cancer, nonmedullary in which the cause of the disease is a mutation in the FOXE1 gene." "" + "thyroid cancer, nonmedullary, 5" "Any thyroid cancer, nonmedullary in which the cause of the disease is a mutation in the HABP2 gene." "" + "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9" "" + "combined oxidative phosphorylation defect type 26" "Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the TRMT5 gene." "" + "progressive myoclonic epilepsy type 9" "Any progressive myoclonic epilepsy in which the cause of the disease is a mutation in the LMNB2 gene." "" + "short stature, microcephaly, and endocrine dysfunction" "" + "microcephalic primordial dwarfism-insulin resistance syndrome" "" + "retinitis pigmentosa 73" "Any retinitis pigmentosa in which the cause of the disease is a mutation in the HGSNAT gene." "" + "short-rib thoracic dysplasia 14 with polydactyly" "An asphyxiating thoracic dystrophy that has material basis in homozygous mutation in the KIAA0586 gene on chromosome 14q23." "" + "Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome" "" + "dyskeratosis congenita, autosomal dominant 6" "A dyskeratosis congenita that has material basis in an autosomal dominant mutation of ACD on chromosome 16q22.1." "" + "hereditary isolated aplastic anemia" "" + "Noonan syndrome 9" "Any Noonan syndrome in which the cause of the disease is a mutation in the SOS2 gene." "" + "Noonan syndrome 10" "Any Noonan syndrome in which the cause of the disease is a mutation in the LZTR1 gene." "" + "spondylocostal dysostosis 6, autosomal recessive" "Any autosomal recessive spondylocostal dysostosis in which the cause of the disease is a mutation in the RIPPLY2 gene." "" + "glioma susceptibility 9" "Any malignant glioma in which the cause of the disease is a mutation in the POT1 gene." "" + "cerebrooculofacioskeletal syndrome 3" "" + "immunodeficiency, common variable, 12" "Any common variable immunodeficiency in which the cause of the disease is a mutation in the NFKB1 gene." "" + "microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome" "" + "intellectual disability, autosomal dominant 40" "Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the CHAMP1 gene." "" + "neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to a point mutation" "" + "neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome" "" + "spondyloepiphyseal dysplasia, Stanescu type" "" + "autosomal recessive complex spastic paraplegia type 9B" "Any autosomal recessive complex spastic paraplegia in which the cause of the disease is a mutation in the ALDH18A1 gene." "" + "Adams-Oliver syndrome 6" "Any Adams-Oliver syndrome in which the cause of the disease is a mutation in the DLL4 gene." "" + "skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome" "" + "craniosynostosis 6" "Any craniosynostosis in which the cause of the disease is a mutation in the ZIC1 gene." "" + "cutis laxa, autosomal dominant 3" "An autosomal dominant cutis laxa characterized by thin skin with visible veins and wrinkles, cataract or corneal clouding, clenched fingers, pre- and postnatal growth retardation, moderate intellectual disability, and a combination of muscle hypotonia with brisk muscle reflexes that has material basis in heterozygous mutation in the ALDH18A1 gene on chromosome 10q24." "" + "14q32 duplication syndrome" "14q32 duplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 14 that results in a predisposition to a number of adult-onset myeloproliferative neoplasms, including acute myeloid leukemia, chronic myelomonocytic leukemia, and myeloproliferative neoplasms, especially essential thrombocythemia. Progression to myelofibrosis and secondary acute myeloid leukemia can be observed." "" + "partial duplication of the long arm of chromosome 14" "" + "ring chromosome 14" "Ring chromosome 14 syndrome is characterized by intellectual deficit, retinal and skin pigmentation disorders, seizures, and dysmorphic features, including flat occiput, epicanthal folds, downward slanting eyes, flat nasal bridge, upturned nostrils, short neck, and large low set ears." "" + "ring chromosome anomaly" "Chromosomal anomaly consisting of the presence of a ring chromosome. A ring chromosome is a chromosome whose arms have fused together to form a ring, often with the loss of the ends of the chromosome." "" + "ring chromosome" "Aberrant chromosomes with no ends, i.e., circular." "" + "obsolete Heimler syndrome 2" "" "true" + "autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency" "Any autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency in which the cause of the disease is a mutation in the RORC gene." "" + "autosomal dominant Charcot-Marie-Tooth disease type 2W" "Any Charcot-Marie-Tooth disease type 2 in which the cause of the disease is a mutation in the HARS gene." "" + "Senior-Loken syndrome 9" "Any Senior-Loken syndrome in which the cause of the disease is a mutation in the TRAF3IP1 gene." "" + "porokeratosis 9, multiple types" "Any porokeratosis (disease) in which the cause of the disease is a mutation in the FDPS gene." "" + "progressive microcephaly-seizures-cortical blindness-developmental delay syndrome" "Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome is a rare, genetic, neuro-ophthalmological syndrome characterized by post-natal, progressive microcephaly and early-onset seizures, associated with delayed global development, bilateral cortical visual impairment and moderate to severe intellectual disability. Additional manifestations include short stature, generalized hypotonia and pulmonary complications, such as recurrent respiratory infections and bronchiectasis. Auditory and metabolic screenings are normal." "" + "primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection" "Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection is a rare primary immunodeficiency due to a defect in innate immunity disorder characterized by selective susceptibility to viral infections, particularly after systemic challenge with live viral vaccines, such as the measles, mumps and rubella (MMR) vaccine. Patients present severe, potentially fatal, manifestations to viral illness, including encephalitis, hepatitis and pneumonitis." "" + "macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome" "" + "early-onset Lafora body disease" "Early-onset Lafora body disease is an extremely rare, inherited form of progressive myoclonic epilepsy characterized by progressive myoclonus epilepsy and Lafora bodies, with an early onset (at around 5 years) and a prolonged disease course. Other manifestations include progressive dysarthria, ataxia, cognitive decline, psychosis, dementia, spasticity, dysarthria, myoclonus, and ataxia. The disease course typically extends for several decades." "" + "developmental and epileptic encephalopathy, 34" "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SLC12A5 gene." "" + "developmental and epileptic encephalopathy, 35" "" + "obsolete hereditary spherocytosis type 2" "" "true" + "Roifman syndrome" "" + "PMP22-RAI1 contiguous gene duplication syndrome" "" + "Joubert syndrome 24" "Any Joubert syndrome in which the cause of the disease is a mutation in the TCTN2 gene." "" + "spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome" "" + "Charcot-Marie-Tooth disease axonal type 2X" "Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the SPG11 gene." "" + "immunodeficiency 45" "" + "combined oxidative phosphorylation defect type 27" "Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the CARS2 gene." "" + "hereditary spastic paraplegia 75" "Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the MAG gene." "" + "microcephaly 16, primary, autosomal recessive" "" + "seizures-scoliosis-macrocephaly syndrome" "Seizures-scoliosis-macrocephaly syndrome is a rare, genetic neurometabolic disorder characterized by seizures, macrocephaly, delayed motor milestones, moderate intellectual disability, scoliosis with no exostoses, muscular hypotonia present since birth, as well as renal dysfunction. Coarse facial features (including hypertelorism and long hypoplastic philtrum) and bilateral cryptorchidism (in males) are also commonly reported. Additional manifestations include abnormal gastrointestinal motility (resulting in constipation, diarrhea, gastroesophageal reflux and dysphagia), gait disturbances, strabismus and ventricular septal defects." "" + "hypomyelinating leukodystrophy 12" "Any leukodystrophy in which the cause of the disease is a mutation in the VPS11 gene." "" + "Charcot-Marie-Tooth disease type 4K" "SURF1-related Charcot-Marie-Tooth disease type 4 (CMT4K) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by childhood onset of severe, progressive, demyelinating sensorimotor neuropathy manifesting with distal muscle weakness and atrophy of hands and feet, distal sensory impairment (vibration and pinprick) of lower limbs, lactic acidosis, areflexia and severely reduced motor nerve conduction velocities (25 m/s or less). Patients may also present kyphoscoliosis, nystagmus, hearing loss, cerebellar ataxia and/or brain MRI abnormalities (putaminal and periaqueductal lesions)." "" + "epilepsy, idiopathic generalized, susceptibility to, 14" "" + "Charcot-Marie-Tooth disease type 2Y" "Any Charcot-Marie-Tooth disease type 2 in which the cause of the disease is a mutation in the VCP gene." "" + "Charcot-Marie-Tooth disease axonal type 2Z" "Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the MORC2 gene." "" + "dehydrated hereditary stomatocytosis 2" "Any dehydrated hereditary stomatocytosis in which the cause of the disease is a mutation in the KCNN4 gene." "" + "autosomal dominant nonsyndromic hearing loss 69" "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the KITLG gene." "" + "autosomal recessive nonsyndromic hearing loss 97" "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the MET gene." "" + "autosomal dominant nonsyndromic hearing loss 68" "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the HOMER2 gene." "" + "facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation" "" + "WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome" "" + "Parkinson disease 22, autosomal dominant" "Any Parkinson disease in which the cause of the disease is a mutation in the CHCHD2 gene." "" + "rhizomelic chondrodysplasia punctata type 5" "Any rhizomelic chondrodysplasia punctata in which the cause of the disease is a mutation in the PEX5 gene." "" + "peroxisome biogenesis disorder due to PEX5 defect in the PEX7-binding domain" "Any peroxisome biogenesis disorder due to PEX5 in which the cause of the disease is a mutation in the PEX7-binding domain of the PEX5 gene." "" + "acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome" "An autosomal recessive cerebellar ataxia that has material basis in homozygous or compound heterozygous mutation in the SCYL1 gene on chromosome 11q13." "" + "congenital myasthenic syndrome 19" "Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the COL13A1 gene." "" + "SLC39A8-CDG" "" + "familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome" "" + "progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome" "" + "tooth agenesis, selective, 7" "Any tooth agenesis in which the cause of the disease is a mutation in the LRP6 gene." "" + "primary ciliary dyskinesia 33" "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the GAS8 gene." "" + "palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome" "Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome is a rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, axial hypotonia, palate abnormalities (including cleft palate and/or high and narrow palate), dysmorphic facial features (including prominent forehead, hypertelorism, downslanting palpebral fissures, wide nasal bridge, thin lips and widely spaced teeth), and short stature. Additional manifestations may include digital anomalies (such as brachydactyly, clinodactyly, and hypoplastic toenails), a single palmar crease, lower limb hypertonia, joint hypermobility, as well as ocular and urogenital anomalies." "" + "nephrotic syndrome, type 11" "Any familial nephrotic syndrome in which the cause of the disease is a mutation in the NUP107 gene." "" + "primary coenzyme Q10 deficiency 8" "Any coenzyme Q10 deficiency in which the cause of the disease is a mutation in the COQ7 gene." "" + "skin creases, congenital symmetric circumferential, 2" "" + "tremor, hereditary essential, 5" "Any essential tremor in which the cause of the disease is a mutation in the TENM4 gene." "" + "macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome" "" + "radioulnar synostosis with amegakaryocytic thrombocytopenia 2" "Any radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome in which the cause of the disease is a mutation in the MECOM gene." "" + "MECOM-associated syndrome" "Any syndrome in which the cause of the disease is a mutation in the MECOM gene. MECOM-associated syndrome has a variable phenotypic pattern, ranging from isolated radioulnar synostosis with no or mild hematological involvement to severe bone marrow failure without obvious skeletal abnormalities. The clinical picture can also include clinodactyly, cardiac and renal malformations, B-cell deficiency, amegakaryocytic thrombocytopenia, and presenile hearing loss." "" + "intellectual disability, autosomal recessive 51" "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the HNMT gene." "" + "TFRC-related combined immunodeficiency" "" + "hereditary pediatric Behçet-like disease" "" + "heterotaxy, visceral, 7, autosomal" "Any visceral heterotaxy in which the cause of the disease is a mutation in the MMP21 gene." "" + "obsolete Bombay phenotype" "" "true" + "spastic paraplegia-severe developmental delay-epilepsy syndrome" "Spastic paraplegia-severe developmental delay-epilepsy syndrome is a rare, genetic, complex spastic paraplegia disorder characterized by an infantile-onset of psychomotor developmental delay with severe intellectual disability and poor speech acquisition, associated with seizures (mostly myoclonic), muscular hypotonia which may be noted at birth, and slowly progressive spasticity in the lower limbs leading to severe gait disturbances. Ocular abnormalities and incontinence are commonly associated. Other symptoms may include verbal dyspraxia, hypogenitalism, macrocephaly and sensorineural hearing loss, as well as dystonic movements and ataxia with upper limb involvement." "" + "woolly hair, autosomal recessive 3" "Any woolly hair in which the cause of the disease is a mutation in the KRT25 gene." "" + "leukodystrophy and acquired microcephaly with or without dystonia;" "" + "Seckel syndrome 9" "Any Seckel syndrome in which the cause of the disease is a mutation in the TRAIP gene." "" + "Joubert syndrome 25" "Any Joubert syndrome in which the cause of the disease is a mutation in the CEP104 gene." "" + "Joubert syndrome 26" "Any Joubert syndrome in which the cause of the disease is a mutation in the KIAA0556 gene." "" + "orofacial cleft 15" "Any cleft lip/palate in which the cause of the disease is a mutation in the DLX4 gene." "" + "cardiac anomalies - developmental delay - facial dysmorphism syndrome" "" + "neuroblastoma, susceptibility to, 7" "" + "combined oxidative phosphorylation deficiency 28" "Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the SLC25A26 gene." "" + "spinocerebellar ataxia type 42" "" + "hypotonia, infantile, with psychomotor retardation and characteristic facies 2" "Any hypotonia, infantile, with psychomotor retardation and characteristic facies in which the cause of the disease is a mutation in the UNC80 gene." "" + "Lamb-Shaffer syndrome" "" + "Wilms tumor 6" "Any Wilms tumor in which the cause of the disease is a mutation in the REST gene." "" + "hyperphosphatasia with intellectual disability syndrome 6" "Any hyperphosphatasia-intellectual disability syndrome in which the cause of the disease is a mutation in the PIGY gene." "" + "combined oxidative phosphorylation deficiency 29" "Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the TXN2 gene." "" + "autosomal recessive limb-girdle muscular dystrophy type 2X" "Autosomal recessive limb-girdle muscular dystrophy type 2X is a rare subtype of autosomal recessive limb-girdle muscular dystrophy characterized by atrioventricular block resulting in repeated syncope episodes, elevated creatine kinase serum levels and adult-onset of slowly progressive proximal limb skeletal muscle weakness and atrophy. Muscular dystrophic changes observed in muscle biopsy include diameter variability, increased central nuclei, and presence of necrotic and regenerating fibers." "" + "preimplantation embryonic lethality 1" "Any preimplantation embryonic lethality in which the cause of the disease is a mutation in the TLE6 gene." "" + "severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome" "Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome is a rare, genetic, non-dystrophic congenital myopathy disorder characterized by a neonatal-onset of severe generalized hypotonia associated with mild psychomotor delay, congenital strabismus with abducens nerve palsy, and atrial and/or ventricular septal defects. Cryptorchidism is commonly reported in male patients and muscle biopsy typically reveals increased variability in muscle fiber size." "" + "microcephaly, short stature, and impaired glucose metabolism 2" "Any microcephaly, short stature, and impaired glucose metabolism in which the cause of the disease is a mutation in the PPP1R15B gene." "" + "IgA nephropathy, susceptibility to, 3" "Any IgA glomerulonephritis in which the cause of the disease is a mutation in the SPRY2 gene." "" + "severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome" "" + "autosomal recessive limb-girdle muscular dystrophy type 2W" "Autosomal recessive limb-girdle muscular dystrophy type 2W is a subtype of autosomal recessive limb girdle muscular dystrophy characterized by childhood onset of severe, progressive, proximal skeletal muscle weakness and atrophy of the upper and lower limbs with later involvement of distal muscles and development of severe quadraparesis, calf hypertrophy, triangular tongue, and dilated cardiomyopathy. Skeletal muscles undergo diffuse, bilateral, symmetric and severe atrophy with fat infiltration." "" + "CCDC115-CDG" "" + "TMEM199-CDG" "" + "Luscan-Lumish syndrome" "" + "Paget disease of bone 6" "" + "microcephaly-congenital cataract-psoriasiform dermatitis syndrome" "" + "Meier-Gorlin syndrome 6" "Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the GMNN gene." "" + "exercise intolerance, riboflavin-responsive" "" + "autosomal recessive early-onset Parkinson disease 23" "Any young-onset Parkinson disease in which the cause of the disease is a mutation in the VPS13C gene." "" + "lymphatic malformation 6" "" + "brachydactyly type A1D" "Any brachydactyly type A1 in which the cause of the disease is a mutation in the BMPR1B gene." "" + "cataract 45" "Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the SIPA1L3 gene." "" + "progressive scapulohumeroperoneal distal myopathy" "" + "even-plus syndrome" "" + "Cowden syndrome 7" "Any Cowden disease in which the cause of the disease is a mutation in the SEC23B gene." "" + "spasticity-ataxia-gait anomalies syndrome" "" + "sideroblastic anemia 3" "" + "Hao-Fountain syndrome" "A neurodevelopmental disorder characterized by global developmental delay, variably impaired intellectual development with significant speech delay, behavioral abnormalities, such as autism, and mild dysmorphic facies. Additional features are variable, but may include hypotonia, feeding problems, delayed walking with unsteady gait, hypogonadism in males, and ocular anomalies, such as strabismus. Some patients develop seizures and some have mild white matter abnormalities on brain imaging. The cause of the disease is a mutation in the USP7 gene." "" + "spinal muscular atrophy with congenital bone fractures 1" "Any prenatal-onset spinal muscular atrophy with congenital bone fractures in which the cause of the disease is a mutation in the TRIP4 gene." "" + "spinal muscular atrophy with congenital bone fractures 2" "Any prenatal-onset spinal muscular atrophy with congenital bone fractures in which the cause of the disease is a mutation in the ASCC1 gene." "" + "congenital secretory sodium diarrhea 8" "Any secretory diarrhea in which the cause of the disease is a mutation in the SLC9A3 gene." "" + "DDX41-related hematologic malignancy predisposition syndrome" "Any hereditary neoplastic syndrome in which the cause of the disease is a mutation in the DDX41 gene." "" + "pancytopenia due to IKZF1 mutations" "Any syndrome with combined immunodeficiency in which the cause of the disease is a mutation in the IKZF1 gene." "" + "cerebellar atrophy, visual impairment, and psychomotor retardation;" "" + "obsolete metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration" "" "true" + "hypomyelinating leukodystrophy 13" "Any leukodystrophy in which the cause of the disease is a mutation in the HIKESHI gene." "" + "advanced sleep phase syndrome 3" "Any advanced sleep phase syndrome in which the cause of the disease is a mutation in the PER3 gene." "" + "intellectual disability, autosomal recessive 52" "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the LMAN2L gene." "" + "split-foot malformation-mesoaxial polydactyly syndrome" "" + "nephrotic syndrome, type 12" "Any familial nephrotic syndrome in which the cause of the disease is a mutation in the NUP93 gene." "" + "nephrotic syndrome, type 13" "Any familial nephrotic syndrome in which the cause of the disease is a mutation in the NUP205 gene." "" + "autosomal dominant Robinow syndrome 3" "Any Robinow syndrome in which the cause of the disease is a mutation in the DVL3 gene." "" + "mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)" "Any mitochondrial DNA depletion syndrome in which the cause of the disease is a mutation in the OPA1 gene." "" + "complex lethal osteochondrodysplasia" "" + "15q14 microdeletion syndrome" "15q14 microdeletion syndrome is a recently described syndrome characterized by developmental delay, short stature and facial dysmorphism." "" + "hypotonia, infantile, with psychomotor retardation and characteristic facies 3" "A rare, genetic, syndromic intellectual disability characterized by usually profound intellectual disability with absent speech, severe infantile hypotonia with decreased or absent reflexes, markedly slow motor development (with no progress beyond the ability to sit independently), early-onset epilepsy, strabismus and post-natal onset of progressive brain atrophy (incl. loss of brain volume, ex vacuo ventriculomegaly, dysgenesis of corpus callosum, white matter abnormalities ranging from non-specific changes to leukodystrophy). Swallowing difficulties, respiratory insufficiency, osteoporosis and variable craniofacial dysmorphisms (incl. plagio/brachicephaly, bitemporal narrowing, high-arched eyebrows, high nasal bridge, anteverted nares, high palate, tented upper lip) may constitute additional clinical features." "" + "craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome" "" + "chromosome 11p13 deletion syndrome, distal" "" + "nucleoside diphosphate-linked moiety X Motif 15 deficiency" "" + "autosomal recessive spastic paraplegia type 76" "Autosomal recessive spastic paraplegia type 76 is a rare, complex hereditary spastic paraplegia characterized by adult onset slowly progressive, mild to moderate lower limb spasticity and hyperreflexia, resulting in gait disturbances, commonly associated with upper limb hyperreflexia and dysarthria. Foot deformities (usually pes cavus) and extensor plantar responses are also frequent. Additional features may include ataxia, lower limb weakness/amyotrophy, abnormal bladder function, distal sensory loss and mild intellectual deterioration." "" + "immunodeficiency-centromeric instability-facial anomalies syndrome 3" "Any immunodeficiency-centromeric instability-facial anomalies syndrome in which the cause of the disease is a mutation in the CDCA7 gene." "" + "immunodeficiency-centromeric instability-facial anomalies syndrome 4" "Any immunodeficiency-centromeric instability-facial anomalies syndrome in which the cause of the disease is a mutation in the HELLS gene." "" + "platelet-type bleeding disorder 20" "Any inherited bleeding disorder, platelet-type in which the cause of the disease is a mutation in the SLFN14 gene." "" + "progeroid and marfanoid aspect-lipodystrophy syndrome" "" + "intellectual disability, autosomal recessive 53" "" + "heart and brain malformation syndrome" "" + "dyskinesia, limb and orofacial, infantile-onset" "" + "striatal degeneration, autosomal dominant 2" "Any striatal degeneration, autosomal dominant in which the cause of the disease is a mutation in the PDE10A gene." "" + "Charcot-Marie-Tooth disease axonal type 2CC" "Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the NEFH gene." "" + "thrombocytopenia 6" "" + "Coffin-Siris syndrome 5" "Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the SMARCE1 gene." "" + "chorea, childhood-onset, with psychomotor retardation" "" + "agammaglobulinemia 8, autosomal dominant" "Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the TCF3 gene." "" + "trichothiodystrophy 6, nonphotosensitive" "Any nonphotosensitive trichothiodystrophy in which the cause of the disease is a mutation in the GTF2E2 gene." "" + "intellectual disability, autosomal dominant 41" "Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the TBL1XR1 gene." "" + "premature ovarian failure 11" "Any primary ovarian failure in which the cause of the disease is a mutation in the ERCC6 gene." "" + "premature ovarian failure 12" "Any primary ovarian failure in which the cause of the disease is a mutation in the SYCE1 gene." "" + "spinocerebellar ataxia, autosomal recessive 22" "Any autosomal recessive cerebellar ataxia in which the cause of the disease is a mutation in the VWA3B gene." "" + "autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome due to TUD deficiency" "" + "spermatogenic failure 15" "Any azoospermia in which the cause of the disease is a mutation in the SYCE1 gene." "" + "TELO2-related intellectual disability-neurodevelopmental disorder" "" + "partial monosomy of the long arm of chromosome 9" "" + "obsolete autosomal recessive nonsyndromic deafness 105" "" "true" + "retinitis pigmentosa and erythrocytic microcytosis" "" + "hypercalcemia, infantile 2" "Any autosomal recessive infantile hypercalcemia in which the cause of the disease is a mutation in the SLC34A1 gene." "" + "obsolete palmoplantar carcinoma, multiple self-healing" "" "true" + "autosomal dominant nonsyndromic hearing loss 70" "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the MCM2 gene." "" + "autosomal dominant nonsyndromic hearing loss 66" "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the CD164 gene." "" + "intellectual disability, autosomal dominant 42" "Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the GNB1 gene." "" + "global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome" "" + "combined oxidative phosphorylation defect type 30" "Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the TRMT10C gene." "" + "neurodevelopmental disorder with or without anomalies of the brain, eye, or heart" "" + "intellectual disability, autosomal dominant 43" "Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the HIVEP2 gene." "" + "developmental and epileptic encephalopathy, 37" "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the FRRS1L gene." "" + "polycystic liver disease 2" "Any polycystic kidney disease in which the cause of the disease is a mutation in the SEC63 gene." "" + "autoimmune disease, multisystem, infantile-onset, 2" "Any autoimmune disease, multisystem, infantile-onset in which the cause of the disease is a mutation in the ZAP70 gene." "" + "cerebral palsy, spastic quadriplegic, 3" "Any spastic quadriplegia in which the cause of the disease is a mutation in the ADD3 gene." "" + "macrocephaly, dysmorphic facies, and psychomotor retardation" "" + "hypermanganesemia with dystonia 2" "Any hypermanganesemia with dystonia in which the cause of the disease is a mutation in the SLC39A14 gene." "" + "autosomal recessive severe congenital neutropenia due to CSF3R deficiency" "" + "Charcot-Marie-Tooth disease axonal type 2T" "A Charcot-Marie-Tooth disease type 2 that has material basis in homozygous or compound heterozygous mutation in the MME gene on chromosome 3q25." "" + "spinocerebellar ataxia 43" "Spinocerebellar ataxia type 43 is a rare autosomal dominant cerebellar ataxia type I disorder characterized by late adult-onset of slowly progressive cerebellar ataxia, typically presenting with balance and gait disturbances, in association with axonal peripheral neuropathy resulting in reduced/absent deep tendon reflexes and sensory impairment. Lower limb pain and amyotrophy may be present, as well as various cerebellar signs, including dysarthria, nystagmus, hypometric saccades and tremor." "" + "developmental and epileptic encephalopathy, 38" "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the ARV1 gene." "" + "hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome" "" + "NEK9-related lethal skeletal dysplasia" "NEK9-related lethal skeletal dysplasia is a rare, lethal, primary bone dysplasia characterized by fetal akinesia, multiple contractures, shortening of all long bones, short, broad ribs, narrow chest and thorax, pulmonary hypoplasia and a protruding abdomen. Short bowed femurs may also be associated." "" + "retinitis pigmentosa 75" "Any retinitis pigmentosa in which the cause of the disease is a mutation in the AGBL5 gene." "" + "congenital stationary night blindness 1H" "Any congenital stationary night blindness in which the cause of the disease is a mutation in the GNB3 gene." "" + "nevus comedonicus syndrome" "A rare developmental skin condition consisting of abnormal pilosebaceous follicle development. It is characterized by linear or band-like distributions of groups of comedones, usually on the face, neck, upper arm, chest, and abdomen, that appear at birth or in childhood." "" + "pontocerebellar hypoplasia, type 2F" "Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the TSEN15 gene." "" + "hyperaldosteronism, familial, type IV" "" + "intellectual disability, autosomal recessive 54" "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the TNIK gene." "" + "myopathy, distal, 5" "Any distal myopathy in which the cause of the disease is a mutation in the ADSSL1 gene." "" + "patent ductus arteriosus 2" "" + "obsolete patent ductus arteriosus 3" "" "true" + "Duane retraction syndrome 3 with or without deafness" "Duane syndrome type 3 is a disorder of eye movement.The affected eye, or eyes, has limited ability to move both inward toward the nose and outward toward the ears. The eye opening narrows and the eyeball pulls in when looking inward toward the nose. About 15 percent of all cases of Duane syndrome are type 3. Most cases occur without other signs and symptoms.In most people with Duane syndrome type 3, the cause is unknown; but it can sometimes be caused by mutations in the CHN1 gene and inherited in an autosomal dominant fashion." "" + "transketolase deficiency" "" + "hereditary spastic paraplegia 77" "Autosomal recessive spastic paraplegia type 77 is a rare, pure or complex hereditary spastic paraplegia characterized by an infancy to childhood onset of slowly progressive lower limb spasticity, delayed motor milestones, gait disturbances, hyperreflexia and various muscle abnormalities, including weakness, hypotonia, intention tremor and amyotrophy. Ocular abnormalities (e.g. strabismus, ptosis) and other neurological abnormalities, such as dysarthria, seizures and extensor plantar responses, may also be associated." "" + "hypertrophic cardiomyopathy 26" "Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the FLNC gene." "" + "cholestasis, progressive familial intrahepatic, 5" "Any progressive familial intrahepatic cholestasis in which the cause of the disease is a mutation in the NR1H4 gene." "" + "Hermansky-Pudlak syndrome 10" "Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the AP3D1 gene." "" + "severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome" "" + "bone marrow failure syndrome 3" "Any bone marrow failure syndrome in which the cause of the disease is a mutation in the DNAJC21 gene." "" + "MIRAGE syndrome" "An autosomal dominant condition caused by mutation(s) in the SAMD9 gene, encoding sterile alpha motif domain-containing protein 9A. It is a syndromic condition comprising myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital abnormalities, and enteropathy." "" + "striatonigral degeneration, childhood-onset" "" + "PERCHING syndrome" "Any cold-induced sweating syndrome in which the cause of the disease is a mutation in the KLHL7 gene." "" + "hyperuricemic nephropathy, familial juvenile type 4" "Any familial juvenile hyperuricemic nephropathy in which the cause of the disease is a mutation in the SEC61A1 gene." "" + "SEC61A1 deficiency" "Any Mendelian disease in which the cause of the disease is a mutation in the SEC61A1 gene. It is characterized by variable presentation of phenotypes in patients, including autosomal dominant tubulointerstitial kidney disease, primary antibody deficiency, and severe congenital neutropenia." "" + "micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome" "" + "Okur-Chung neurodevelopmental syndrome" "" + "Meier-Gorlin syndrome 7" "Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the CDC45 gene." "" + "developmental and epileptic encephalopathy, 40" "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GUF1 gene." "" + "congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome" "" + "obsolete portal hypertension, noncirrhotic" "" "true" + "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3" "Any autosomal recessive progressive external ophthalmoplegia in which the cause of the disease is a mutation in the TK2 gene." "" + "adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency" "Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency is an extremely rare multiple mitochondrial DNA deletion syndrome with markedly decreased deoxyguanosine kinase (DGUOK) activity in skeletal muscle characterized by a highly variable phenotype. Clinical manifestations include progressive external ophthalmoplegia, mitochondrial myopathy, recurrent rhabdomyolysis, lower motor neuron disease, mild cognitive impairment, sensory axonal neuropathy, optic atrophy, ataxia, hypogonadism and/or parkinsonism." "" + "autosomal recessive limb-girdle muscular dystrophy type 2Y" "Autosomal recessive limb-girdle muscular dystrophy type 2Y (LGMD2Y) is a form of limb-girdle muscular dystrophy, presenting in the first or second decades of life, characterized by slowly progressive proximal and distal muscle weakness and atrophy. Additional manifestations include contractures of the proximal and distal interphalangeal hand joints, rigid spine, restricted pulmonary function, and mild cardiomyopathy." "" + "qualitative or quantitative defects of Torsin-1A-interacting protein 1" "" + "tooth agenesis, selective, 8" "Any tooth agenesis in which the cause of the disease is a mutation in the WNT10B gene." "" + "nasopharyngeal carcinoma, susceptibility to, 3" "Any nasopharyngeal carcinoma in which the cause of the disease is a mutation in the MST1R gene." "" + "seizures, benign familial infantile, 5" "Any benign familial infantile epilepsy in which the cause of the disease is a mutation in the SCN8A gene." "" + "congenital disorder of glycosylation, type IAA" "" + "encephalopathy due to defective mitochondrial and peroxisomal fission 2" "" + "Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;" "An autosomal recessive sub-type of Charcot-Marie-Tooth disease caused by compound heterozygous or homozygous mutation(s) in the MFN2 gene, encoding mitofusin-2. This condition is more severe and has an earlier onset as compared to Charcot-Marie-Tooth disease type 2A2A." "" + "short-rib thoracic dysplasia 15 with polydactyly" "" + "microcephaly 17, primary, autosomal recessive" "Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CIT gene." "" + "primary ciliary dyskinesia 34" "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAJB13 gene." "" + "primary ciliary dyskinesia 35" "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the TTC25 gene." "" + "growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy" "A rare, genetic, syndromic intellectual disability disease characterized by severe intrauterine and post-natal growth delay, moderate to severe intellectual disability, and neonatal-onset hepatopathy with fibrosis, steatosis, and/or cholestasis, occasionally leading to liver failure. Additional variable manifestations include muscular hypotonia, zinc deficiency, recurrent infections, diabetes mellitus, joint contractures, skin and joint laxity, hypervitaminosis D, and sensorineural hearing loss." "" + "infantile-onset periodic fever-panniculitis-dermatosis syndrome" "" + "" "true" + "familial adenomatous polyposis 4" "Familial adenomatous polyposis-4 is an autosomal recessive tumor predisposition syndrome characterized by the development of multiple colonic adenomas in adulthood, often with progression to colorectal cancer. Proliferative lesions in other tissues may also occur (summary by {1:Adam et al., 2016}).nnFor a discussion of genetic heterogeneity of familial adenomatous polyposis, see FAP1 (OMIM:175100)." "" + "Dias-Logan syndrome" "" + "short-rib thoracic dysplasia 16 with or without polydactyly" "" + "developmental and epileptic encephalopathy, 41" "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SLC1A2 gene." "" + "developmental and epileptic encephalopathy, 42" "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the CACNA1A gene." "" + "tall stature-intellectual disability-renal anomalies syndrome" "" + "sessile serrated polyposis cancer syndrome" "" + "hyperplastic polyposis syndrome" "Hyperplastic polyposis syndrome is a rare, genetic intestinal disease characterized by the presence of multiple (usually large) hyperplastic/serrated colorectal polyps, usually with a pancolonic distribution. Histology reveals hyperplastic polyps, sessile serrated adenomas (most common), traditional serrated adenomas or mixed polyps. It is associated with an increased personal and familial (first-degree relatives) risk of colorectal cancer." "" + "patterned macular dystrophy 3" "Any patterned macular dystrophy in which the cause of the disease is a mutation in the MAPKAPK3 gene." "" + "developmental and epileptic encephalopathy, 43" "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GABRB3 gene." "" + "myofibrillar myopathy 7" "Any myofibrillar myopathy in which the cause of the disease is a mutation in the KY gene." "" + "peeling skin syndrome 5" "Any peeling skin syndrome in which the cause of the disease is a mutation in the SERPINB8 gene." "" + "epilepsy, familial focal, with variable foci 2" "Any epilepsy, familial focal, with variable foci in which the cause of the disease is a mutation in the NPRL2 gene." "" + "familial focal epilepsy with variable foci" "Familial focal epilepsy with variable foci is a rare genetic epilepsy disorder characterized by autosomal dominant lesional and nonlesional focal epilepsy with variable penetrance. Focal seizures emanate from different cortical locations (temporal, frontal, centroparietal, parietal, parietaloccipital, occipital) in different family members, but for each individual a single focus remains constant throughout lifetime. Seizure type (tonic, tonic-clonic or hyperkinetic) and severity varies among family members and tends to decrease (but do not disappear) during adulthood. Many patients have an aura and show automatisms during diurnal seizures whereas others have nocturnal seizures. Most individuals are of normal intelligence but patients with intellectual disability, autistic spectrum disorder and obsessive-compulsive disorder have been described." "" + "epilepsy, familial focal, with variable foci 3" "Any epilepsy, familial focal, with variable foci in which the cause of the disease is a mutation in the NPRL3 gene." "" + "Bardet-Biedl syndrome 22" "Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the IFT74 gene." "" + "Joubert syndrome 27" "Any Joubert syndrome in which the cause of the disease is a mutation in the B9D1 gene." "" + "Joubert syndrome 28" "Any Joubert syndrome in which the cause of the disease is a mutation in the MKS1 gene." "" + "retinitis pigmentosa 76" "Any retinitis pigmentosa in which the cause of the disease is a mutation in the POMGNT1 gene." "" + "intellectual disability, autosomal recessive 56" "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the ZC3H14 gene." "" + "Alazami-Yuan syndrome" "" + "orofaciodigital syndrome XV" "" + "developmental and epileptic encephalopathy, 44" "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the UBA5 gene." "" + "spinocerebellar ataxia, autosomal recessive 24" "Any autosomal dominant cerebellar ataxia in which the cause of the disease is a mutation in the UBA5 gene." "" + "frontometaphyseal dysplasia 2" "Any frontometaphyseal dysplasia in which the cause of the disease is a mutation in the MAP3K7 gene." "" + "frontometaphyseal dysplasia" "Frontometaphyseal dysplasia (FMD) belongs to the otopalatodigital syndrome spectrum disorder and is characterized by anomalous ossification and skeletal patterning of the axial and appendicular skeleton, facial dysmorphism and conductive and sensorineural hearing loss." "" + "ZTTK syndrome" "" + "aniridia 2" "" + "aniridia 3" "Any isolated aniridia in which the cause of the disease is a mutation in the TRIM44 gene." "" + "congenital myasthenic syndrome 20" "Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the SLC5A7 gene." "" + "neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset" "" + "arthrogryposis, distal, with impaired proprioception and touch" "" + "developmental and epileptic encephalopathy, 45" "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GABRB1 gene." "" + "mitochondrial DNA depletion syndrome 15 (hepatocerebral type);" "Any mitochondrial DNA depletion syndrome in which the cause of the disease is a mutation in the TFAM gene." "" + "short stature-brachydactyly-obesity-global developmental delay syndrome" "" + "myopathy, distal, with rimmed vacuoles" "" + "Sifrim-Hitz-Weiss syndrome" "" + "developmental and epileptic encephalopathy, 46" "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GRIN2D gene." "" + "short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay" "" + "developmental and epileptic encephalopathy, 47" "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the FGF12 gene." "" + "aortic aneurysm, familial thoracic 10" "Any familial thoracic aortic aneurysm and aortic dissection in which the cause of the disease is a mutation in the LOX gene." "" + "Sotos syndrome 3" "Any Sotos syndrome in which the cause of the disease is a mutation in the APC2 gene." "" + "intellectual disability-epilepsy-extrapyramidal syndrome" "" + "gnb5-related intellectual disability-cardiac arrhythmia syndrome" "" + "Ehlers-Danlos syndrome, periodontal type 2" "" + "retinal dystrophy with or without extraocular anomalies" "" + "Chitayat syndrome" "" + "language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia" "" + "Harel-Yoon syndrome" "" + "mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant" "" + "encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy" "" + "spermatogenic failure 16" "Any azoospermia in which the cause of the disease is a mutation in the SUN5 gene." "" + "intellectual disability, autosomal recessive 57" "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the MBOAT7 gene." "" + "Shashi-Pena syndrome" "" + "obsolete encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum" "" "true" + "lethal congenital contracture syndrome 11" "Any lethal congenital contracture syndrome in which the cause of the disease is a mutation in the GLDN gene." "" + "periventricular nodular heterotopia 7" "Any periventricular nodular heterotopia in which the cause of the disease is a mutation in the NEDD4L gene." "" + "heterotaxy, visceral, 8, autosomal" "Any visceral heterotaxy in which the cause of the disease is a mutation in the PKD1L1 gene." "" + "encephalopathy, progressive, with amyotrophy and optic atrophy" "" + "isolated sedoheptulokinase deficiency" "" + "spermatogenic failure 17" "Any azoospermia in which the cause of the disease is a mutation in the PLCZ1 gene." "" + "amelogenesis imperfecta, hypomaturation type, IIa6" "" + "chromosome 19q13.11 deletion syndrome, proximal" "Chromosome 19q13.11 deletion syndrome in which the proximal region was deleted." "" + "sudden cardiac failure, infantile" "" + "sudden cardiac failure, alcohol-induced" "" + "autosomal recessive spastic paraplegia type 78" "Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the ATP13A2 gene." "" + "lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome" "Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome is rare, genetic, neurometabolic disease characterized by global developmental delay, severe hypotonia, seizures, cataracts, cardiomyopathy (including left or bi-ventricular hypertrophy, dilated cardiomyopathy) and left ventricular non-compaction, typically resulting in infantile or early-childhood death. Patients usually present metabolic lactic acidosis, failure to thrive, head lag, respiratory problems and decrease in respiratory chain complex activity. Highly variable cerebral abnormalities have been reported and include microcephaly, prominent extra-axial cerebrospinal fluid spaces, diffuse neuronal loss and cortical/white matter gliosis." "" + "autosomal recessive limb-girdle muscular dystrophy type 2Z" "An autosomal recessive condition caused by mutation(s) in the POGLUT1 gene, encoding protein O-glucosyltransferase 1. It is characterized by progressive muscular dystrophy, primarily affecting the proximal muscles, resulting in difficulty walking." "" + "preimplantation embryonic lethality 2" "Any preimplantation embryonic lethality in which the cause of the disease is a mutation in the PADI6 gene." "" + "myoclonus, intractable, neonatal" "" + "cone-rod dystrophy and hearing loss" "" + "immunodeficiency 49" "Any primary immunodeficiency disease in which the cause of the disease is a mutation in the BCL11B gene." "" + "myopia 25, autosomal dominant" "Any myopia (disease) in which the cause of the disease is a mutation in the P4HA2 gene." "" + "congenital myasthenic syndrome 21" "Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the SLC18A3 gene." "" + "lung disease, immunodeficiency, and chromosome breakage syndrome;" "" + "Fanconi anemia complementation group V" "Any Fanconi anemia in which the cause of the disease is a mutation in the MAD2L2 gene." "" + "Fanconi anemia complementation group R" "Any Fanconi anemia in which the cause of the disease is a mutation in the RAD51 gene." "" + "Fanconi anemia complementation group U" "Any Fanconi anemia in which the cause of the disease is a mutation in the XRCC2 gene." "" + "obsolete 3-methylglutaconic aciduria, type VIII" "" "true" + "uncombable hair syndrome 2" "Any uncombable hair syndrome in which the cause of the disease is a mutation in the TGM3 gene." "" + "uncombable hair syndrome 3" "Any uncombable hair syndrome in which the cause of the disease is a mutation in the TCHH gene." "" + "Seckel syndrome 10" "Any Seckel syndrome in which the cause of the disease is a mutation in the NSMCE2 gene." "" + "lissencephaly 8" "Any lissencephaly (disease) in which the cause of the disease is a mutation in the TMTC3 gene." "" + "myofibrillar myopathy 8" "Any myofibrillar myopathy in which the cause of the disease is a mutation in the PYROXD1 gene." "" + "global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies" "" + "neurodevelopmental disorder with hypotonia, seizures, and absent language" "" + "intellectual disability, autosomal recessive 58" "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the ELP2 gene." "" + "nephronophthisis 20" "Any nephronophthisis in which the cause of the disease is a mutation in the MAPKBP1 gene." "" + "glaucoma 3, primary congenital, E" "" + "tooth agenesis, selective, 9" "Any tooth agenesis in which the cause of the disease is a mutation in the GREM2 gene." "" + "developmental and epileptic encephalopathy, 48" "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the AP3B2 gene." "" + "atrial fibrillation, familial, 18" "Any familial atrial fibrillation in which the cause of the disease is a mutation in the MYL4 gene." "" + "developmental and epileptic encephalopathy, 49" "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the DENND5A gene." "" + "dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities" "" + "dystonia 28, childhood-onset" "Any dystonic disorder in which the cause of the disease is a mutation in the KMT2B gene." "" + "epilepsy, early-onset, vitamin B6-dependent" "" + "generalized basal epidermolysis bullosa simplex with skin atrophy, scarring and hair loss" "" + "spastic paraplegia, intellectual disability, nystagmus, and obesity;" "" + "amelogenesis imperfecta, type 1J" "" + "lymphatic malformation 7" "" + "atypical glycine encephalopathy" "Atypical glycine encephalopathy is a rare form of glycine encephalopathy (GE) presenting disease onset or clinical manifestations that differ from neonatal or infantile GE." "" + "optic atrophy 11" "Any autosomal recessive isolated optic atrophy in which the cause of the disease is a mutation in the YME1L1 gene." "" + "mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders" "" + "mucopolysaccharidosis or mucopolysaccharidosis-like disorder" "Any disease that presents as a mucopolysaccharidosis or mucopolysaccharidosis-like disorder." "" + "retinitis pigmentosa 77" "Any retinitis pigmentosa in which the cause of the disease is a mutation in the REEP6 gene." "" + "coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness" "" + "congenital bile acid synthesis defect 6" "Any congenital bile acid synthesis defect in which the cause of the disease is a mutation in the ACOX2 gene." "" + "anterior segment dysgenesis 6" "" + "anterior segment dysgenesis 8" "Any anterior segment dysgenesis in which the cause of the disease is a mutation in the CPAMD8 gene." "" + "ichthyosis, congenital, autosomal recessive 12" "Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the CASP14 gene." "" + "susceptibility to Yao syndrome" "" + "intellectual disability, autosomal recessive 59" "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the IMPA1 gene." "" + "hypotonia, ataxia, and delayed development syndrome" "" + "intellectual developmental disorder with dysmorphic facies and ptosis" "" + "MYPN-related myopathy" "Congenital myopathy caused by pathogenic mutations in MYPN that lead to a wide spectrum of phenotypes. Patients with mutations in this gene often experience muscle weakness, facial weakness, and sometimes cardiac and respiratory issues. Histological findings on skeletal muscle biopsy are variable with nemaline bodies and cap-like lesions." "" + "ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type" "Any ectodermal dysplasia syndrome in which the cause of the disease is a mutation in the KDF1 gene." "" + "developmental and epileptic encephalopathy, 51" "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the MDH2 gene." "" + "cerebroretinal microangiopathy with calcifications and cysts 2" "Any Coats plus syndrome in which the cause of the disease is a mutation in the STN1 gene." "" + "48,XXYY syndrome" "The 48,XXYY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of an extra X and Y chromosome in males." "" + "X and Y chromosomal anomaly" "" + "reticular perineurioma" "" + "extraneural perineurioma" "Extraneural perineurioma is a rare tumor of cranial and spinal nerves arising from peripheral nerve sheet and composed exclusively or predominantly of cells showing perineurial differentiation. It presents as a well-circumscribed, rarely encapsulated mass, not associated with a recognizable nerve, most commonly arising in the dermis and subcutis of the extremities or trunk, or, rarely, in deep soft tissue or skin (e.g., in the stomach, kidney, pancreas, maxillary sinus, mandible, bronchial tree and the face). The clinical presentation depends on the localization." "" + "sclerosing perineurioma" "" + "perineurioma" "A usually benign perineurioma not associated with a nerve, arising from the soft tissues." "" + "intraneural perineurioma" "A WHO grade I perineurioma that arises within the endoneurium. It is characterized by the formation of pseudo-onion bulbs by the proliferating perineural cells." "" + "ABeta amyloidosis, dutch type" "Hereditary cerebral hemorrhage with amyloidosis, Dutch type (HCHWA-D) is a form of HCHWA, a group of familial central nervous system disorders, characterized by severe cerebral amyloid angiopathy (CAA), hemorrhagic and non-hemorrhagic strokes and dementia." "" + "lissencephaly with cerebellar hypoplasia type A" "Lissencephaly with cerebellar hypoplasia type A (LCHa) is a form of lissencephaly with cerebellar hypoplasia that encompasses classical lissencephaly with thickened cortical gray matter with either no discernable gradient, a gradient with posterior predominance, or a gradient with anterior predominance, and cerebellar vermis hypoplasia." "" + "lissencephaly with cerebellar hypoplasia" "Lissencephaly with cerebellar hypoplasia (LCH) is a variant form of lissencephaly and involves a heterogeneous group of cortical malformations without severe congenital microcephaly (>-3 SD). LCH is characterized by cerebellar underdevelopment ranging from vermian hypoplasia to total aplasia with classical or cobblestone lissencephaly. The phenotypic features of LCH include small head circumference (between -2 and -3 standard deviations (SD) forage) at birth and postnatally, moderate to severe intellectual disability, hypotonia and spasticity. Seizures are often observed and infantile spasms have been reported in some rare cases. LCH has been classified into six subgroups according to neuroradiographic properties and are classified LCH type A to F." "" + "lissencephaly with cerebellar hypoplasia type B" "Lissencephaly with cerebellar hypoplasia type B (LCHb) is a form of lissencephaly with cerebellar hypoplasia characterized by subtle microcephaly, hypotonia and neurological and cognitive development delay. Hippocampal malformation is a characteristic imaging feature of LCHb." "" + "lissencephaly with cerebellar hypoplasia type C" "Lissencephaly with cerebellar hypoplasia type C (LCHc) is a severe form of lissencephaly with cerebellar hypoplasia characterized by severe microcephaly, cleft palate, and severe cerebellar and brainstem hypoplasia leading to neonatal death." "" + "lissencephaly with cerebellar hypoplasia type D" "Lissencephaly with cerebellar hypoplasia type D (LCHd) is a form of lissencephaly with cerebellar hypoplasia characterized by pronounced microcephaly (at least B1 3 SD), intellectual disability, spastic diplegia and moderate to severe cerebellar hypoplasia involving both vermis and hemispheres." "" + "lissencephaly with cerebellar hypoplasia type E" "Lissencephaly with cerebellar hypoplasia type E (LCHe) is a form of lissencephaly with cerebellar hypoplasia, characterized by an abrupt transition from agyria to gyral simplification, near the boundary between frontal and parietal cortex, microcephaly (B1 3 SD) and brainstem hypoplasia." "" + "lissencephaly with cerebellar hypoplasia type F" "Lissencephaly with cerebellar hypoplasia type F (LCHf) is a severe form of lissencephaly with cerebellar hypoplasia, characterized by a microcephaly of at least - 3 SD and a thick cortex associated with complete absence of the corpus callosum." "" + "myelodysplastic syndrome with excess blasts-1" "A myelodysplastic syndrome defined by 5-9% blasts in the bone marrow, and <5% blasts in the blood. Approximately 25% of cases progress to an acute leukemia. (WHO)" "" + "myelodysplastic syndrome with excess blasts" "A myelodysplastic syndrome characterized by the presence of 5-19% myeloblasts in the bone marrow or 2-19% blasts in the peripheral blood. It includes two categories: myelodysplastic syndrome with excess blasts-1 and myelodysplastic syndrome with excess blasts-2." "" + "myelodysplastic syndrome with excess blasts-2" "A myelodysplastic syndrome defined by 10-19% blasts in the bone marrow or 5-19% blasts in the blood and <10% blasts in the bone marrow. Approximately 33% of cases progress to acute leukemia. The prognosis is usually poor. (WHO)" "" + "primary plasmacytoma of the bone" "" + "extramedullary soft tissue plasmacytoma" "" + "mu-heavy chain disease" "Mu-heavy chain disease (mu-HCD) is a type of HCD characterized by the production of incomplete monoclonal mu-heavy chains without associated light chains. The clinical presentation resembles that of patients with chronic lymphocytic leukemia/small lymphocytic lymphoma (CLL/SLL)." "" + "alpha-heavy chain disease" "Alpha-heavy chain disease (alpha-HCD) is a type of HCD characterized by the production of incomplete monoclonal alpha-heavy chains without associated light chains. Alpha-HCD is considered to be a subtype of immunoproliferative small intestinal disease (IPSID). The clinical presentation includes chronic diarrhea with evidence of malabsorption." "" + "gamma-heavy chain disease" "Gamma-heavy chain disease (gamma-HCD) is a type of HCD characterized by the production of incomplete monoclonal gamma-heavy chains without associated light chains. The clinical presentation most commonly resembles that of patients with systemic lymphoproliferative/autoimmune diseases." "" + "solitary necrotic nodule of the liver" "Solitary necrotic tumor of the liver is a rare nonmalignant hepatic lesion characterized by a mass with a completely necrotic core often partially calcified, surrounded by a dense hyalinized fibrous capsule containing elastin fibers. Patients are usually asymptomatic but some may suffer from intermittent abdominal pain or discomfort." "" + "esophageal duplication cyst" "Esophageal duplication cyst is a rare, congenital, non-syndromic esophageal malformation, most frequently located in the distal esophagus and usually diagnosed in childhood, characterized by tubular or spherical cystic masses that have a double layer of surrounding smooth muscle lined with squamous or enteric epithelium, are continuous or contiguous to the esophagus and may, or may not, communicate with the esophageal lumen. Patients are frequently asymptomatic, or could present with a wide range of symptoms including respiratory distress, failure to thrive, dysphagia, epigastric discomfort, vomiting, stridor, non-productive cough, and chest pain. Other more rare symptoms, such as cardiac arrhythmia, thoracic back pain, cystic hemorrgage and ulceration, and mediastinitis, have also been reported." "" + "duplication of the esophagus" "" + "tubular duplication of the esophagus" "Tubular duplication of the esophagous is a rare congenital malformation where a second structure with individual lumen and stratified squamous mucosa and muscularis mucosa lies within or adjacent to the true esophagus causing dysphagia, nausea, vomiting, retrosternal pain and respiratory problems (stridor and recurrent pneumonia) and usually presenting in children." "" + "hereditary angioedema type 1" "Hereditary angioedema type 1 (HAE 1) is a form of hereditary angioedema characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway." "" + "hereditary angioedema with C1Inh deficiency" "Forms of hereditary angioedema that occur due to mutations in the gene for complement C1 inhibitor protein. Type I hereditary angioedema is associated with reduced serum levels of complement C1 inhibitor protein. Type II hereditary angioedema is associated with the production of a non-functional complement C1 inhibitor protein." "" + "hereditary angioedema type 2" "Hereditary angioedema type 2 (HAE 2) is a form of hereditary angioedema characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway." "" + "acquired angioedema type 2" "Acquired angioedema type 2 (AAE2) is a type of acquired angioedema (AAE) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway." "" + "acquired angioedema" "Acquired angioedema (AAE) is characterized by the occurrence of transitory and recurrent subcutaneous and/or submucosal edemas resulting in swelling and/or abdominal pain due to an acquired C1 inhibitor (C1-INH) deficiency." "" + "acquired angioedema type 1" "Acquired angioedema type 1 (AAE 1) is a type of acquired angioedema (AAE) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway." "" + "renin-angiotensin-aldosterone system-blocker-induced angioedema" "Renin-angiotensin-aldosterone system (RAAS)-blocker induced angioedema (RAE) is a type of acquired angioedema (AAE) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway." "" + "obsolete Waterhouse-Friderichsen syndrome" "" "true" + "frontotemporal neurodegeneration with movement disorder" "True" + "mosaic trisomy 3" "Mosaic trisomy 3 is a rare chromosomal anomaly syndrome with high phenotypic variability ranging from a mild phenotype presenting joint pain and laxity, mild facial dysmorphism (e.g. long facies, prominent eyes, dysplastic ears, downturned corners of the mouth, micrognathia) and no developmental delays to more severe phenotypes including short stature, intellectual disability, severe developmental delays, additional craniofacial dysmorphic features (e.g. brachycephaly, high forehead, flat midface, short neck) and hearing impairment, as well as skeletal (e.g. pectus excavatum, scoliosis), ocular (e.g. coloboma) and cardiac abnormalities." "" + "neurogenic thoracic outlet syndrome" "Neurogenic thoracic outlet syndrome (NTOS) is a form of thoracic outlet syndrome (TOS) that presents with pain, paresthesias and weakness in an upper extremity and is divided into true NTOS and disputed NTOS." "" + "appendix neuroendocrine neoplasm" "A neoplasm with neuroendocrine differentiation that arises from the appendix. It includes well differentiated neuroendocrine tumors (low and intermediate grade) and poorly differentiated neuroendocrine carcinomas (high grade)." "" + "neuroendocrine tumor of rectum, well differentiated, low or intermediate grade" "A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the rectum." "" + "neuroendocrine tumor of the anal canal" "A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the anal canal." "" + "neuroendocrine tumor with other location" "True" + "middle ear neuroendocrine tumor" "A neuroendocrine neoplasm that involves the middle ear." "" + "gallbladder neuroendocrine tumor, grade 1/2" "A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the gallbladder." "" + "obsolete rare parathyroid tumor" "Any of the forms of tumor of parathyroid gland that have a rare incidence." "True" "true" + "obsolete gastroenteropancreatic neuroendocrine neoplasm" "" "true" + "obsolete thymic tumor" "" "true" + "alopecia antibody deficiency" "" + "FRAXF syndrome" "FRAXF syndrome was originally identified in a family with developmental delay and an expanded CCG repeat at the folate-sensitive FRAXF fragile site. Since this initial description, FRAXF has been associated with a range of manifestations but no clear phenotype has been established." "" + "bathing suit ichthyosis" "Bathing suit ichthyosis (BSI) is a rare variant of autosomal recessive congenital ichthyosis (ARCI) characterized by the presence of large dark scales in specific areas of the body." "" + "cloverleaf skull-asphyxiating thoracic dysplasia syndrome" "" + "cleft hard palate" "" + "sub-cortical nodular heterotopia" "" + "nodular neuronal heterotopia" "" + "subependymal nodular heterotopia" "" + "Peters anomaly-cataract syndrome" "" + "familial hypofibrinogenemia" "Familial hypofibrinogenemia is a coagulation disorder characterized by mild bleeding symptoms following trauma or surgery due to a reduced plasma fibrinogen concentration." "" + "aortic valve dysplasia" "" + "congenital aortic valve stenosis" "" + "obsolete situs inversus totalis" "" "true" + "unilateral hemispheric polymicrogyria" "" + "unilateral polymicrogyria" "Unilateral polymicrogyria is a cerebral cortical malformation characterized by unilateral excessive cortical folding and abnormal cortical layering. It comprises two sub-types depending on the areas affected: unilateral hemispheric and focal polymicrogyria." "" + "aregenerative anemia" "" + "Marin-Amat syndrome" "" + "non-secreting chemodectoma" "" + "non-secreting paraganglioma" "Non-functioning paraganglioma is a rare neuroendocrine tumor arising from neural crest-derived paraganglion cells (most often in the para-aortic region at the level of renal hilia, organ of Zuckerkandl, thoracic paraspinal region, bladder, and carotid body) not associated with catecholamine secretion. These tumors are usually clinically silent and symptoms, if present, are nonspecific and depend on the location of the tumor. Association with certain hereditary cancer-predisposing syndromes, such as multiple endocrine neoplasia, neurofibromatosis type 1 or von Hippel Lindau syndrome, may be observed." "" + "pulmonary valve agenesis-tetralogy of fallot-absence of ductus arteriosus syndrome" "Pulmonary valve agenesis-tetralogy of Fallot-absence of ductus arteriosus syndrome is a rare congenital heart malformation characterized by a tetralogy of Fallot (pulmonary stenosis, overriding aorta, ventricular septal defect and right ventricular hypertrophy), complete absence or rudimentary pulmonary valve that is both stenotic and regurgitant and an absence of the ductus arteriosus. It presents prenatally with cardiomegaly, polyhydramnios, fetal heart failure, hydrops fetalis and fetal demise or postnatally with cyanosis and respiratory failure due to bronchomalacia secondary to bronchial compression from dilated pulmonary arteries. It is frequently associated with 22q11 deletion." "" + "pulmonary valve agenesis" "Pulmonary valve agenesis is a rare congenital heart malformation characterized by a total or partial absence of the pulmonary valve leaflets associated with stenosis of the pulmonary artery orifice and aneurysmal dilatation of the pulmonary arteries. It usually occurs in association with additional cardiovascular malformations such as teralogy of fallot or ventricular septal defect, or can occur as part of a syndrome (e.g. 22q11.2 deletion syndrome). Clinical features depend on the presence of associated cardiac malformations and include pulmonary insufficiency, bronchial obstruction (secondary to compression by aneurysmally dilated pulmonary arteries), pulmonary stenosis, cyanosis, and cardiac failure.3424" "" + "chronic hepatic porphyria" "Chronic hepatic porphyrias represent a sub-group of porphyrias. They are characterized by bullous photodermatitis caused by a deficiency of uroporphyrinogen decarboxylase (URO-D; the fifth enzyme in the heme biosynthesis pathway). Chronic hepatic porphyria encompasses two diseases: porphyria cutanea tarda and hepatoerythropoietic porphyria (extremely rare)." "" + "genodermatosis with ocular features" "True" + "obsolete African tick typhus" "" "true" + "obsolete rare urogenital disease" "True" "true" + "obsolete rare genetic eye disease" "A form of eye disease that is both rare and inborn." "True" "true" + "obsolete rare non-syndromic intellectual disability" "Rare non-syndromic intellectual disability." "True" "true" + "congenital anomaly of the mitral subvalvular apparatus" "" + "non-genetic cardiac rhythm disease" "" + "obsolete rare pancreatic disease" "Any of the forms of pancreas disease that have a rare incidence." "True" "true" + "obsolete rare vascular liver disease" "True" "true" + "obsolete rare parenchymal liver disease" "True" "true" + "obsolete rare genetic metabolic liver disease" "True" "true" + "obsolete rare biliary tract disease" "Rare biliary tract disease." "True" "true" + "obsolete rare hepatic and biliary tract tumor" "Any of the forms of hepatobiliary neoplasm that have a rare incidence." "True" "true" + "obsolete rare pulmonary disease" "" "true" + "obsolete bronchopulmonary tumor" "" "true" + "obsolete rare acquired eye disease" "True" "true" + "obsolete rare eye tumor" "Any of the forms of eye neoplasm that have a rare incidence." "True" "true" + "obsolete rare diabetes mellitus" "Rare diabetes mellitus." "True" "true" + "obsolete rare inherited dyslipidemia" "Rare lipid metabolism disorder." "True" "true" + "obsolete rare adrenal disease" "True" "true" + "obsolete rare thyroid disease" "Rare thyroid disease." "True" "true" + "pituitary deficiency" "" + "obsolete rare genetic hypothalamic or pituitary disease" "True" "true" + "primary adrenal insufficiency" "A hormonal disorder that occurs when the adrenal glands fail to release adequate amounts of glucocorticoids (cortisol), mineralocorticoids (aldosterone, 11-deoxycorticosterone), and androgens (dehydroepiandrosterone) to meet physiologic needs, despite release of ACTH from the pituitary." "" + "primary immunodeficiency due to a defect in adaptive immunity" "" + "periodic fever syndrome" "Fevers of unknown etiology recurring over months or years." "" + "obsolete rare genetic primary immunodeficiency" "True" "true" + "obsolete rare epilepsy" "Rare epilepsy." "True" "true" + "familial Alzheimer disease" "A degenerative disease of the brain that causes gradual loss of memory, judgment, and the ability to function socially. About 25% of all Alzheimer disease is familial (more than 2 people in a family have AD). When Alzheimer disease begins before 60 or 65 years of age (early-onset AD) about 60% of the cases are familial (also known as Early-onset familial AD). These cases appear to be inherited in an autosomal dominant manner." "" + "obsolete ataxia syndrome" "" "true" + "obsolete rare movement disorder" "Rare movement disorder." "True" "true" + "obsolete other syndrome with lissencephaly as a major feature" "True" "true" + "limb-girdle muscular dystrophy" "Limb-girdle muscular dystrophy (LGMD) is a heterogeneous group of muscular dystrophies characterized by proximal weakness affecting the pelvic and shoulder girdles. Cardiac and respiratory impairment may be observed in certain forms of LGMD." "" + "autosomal monosomy" "" + "autosomal anomaly" "A chromosomal anomaly that involves an autosome." "" + "obsolete rickettsial disease" "" "true" + "obsolete spotted fever rickettsiosis" "" "true" + "obsolete typhus-group rickettsiosis" "" "true" + "unexplained periodic fever syndrome" "" + "multiple congenital anomalies/dysmorphic syndrome" "" + "obsolete rare syndromic intellectual disability" "Rare syndromic intellectual disability." "True" "true" + "acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent" "Acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent is a subgroup of therapy-related myeloid neoplasms (t-MN), associated with a treatment of an unrelated neoplastic or autoimmune disease with cytotoxic agents, like cyclophosphamid, platins, melphalan and others. The neoplastic cells typically harbor unbalanced aberrations of chromosomes 5 and 7 (monosomy 5/del(5q) and monosomy 7/del(7q)) or a complex karyotype. It usually presents with multilineage dysplasia and cytopenias 5-10 years after exposure, with symptoms related to the degree of bone marrow failure and the corresponding cytopenia (fatigue, bleeding and bruising, recurrent infections, bone pain)." "" + "therapy related acute myeloid leukemia and myelodysplastic syndrome" "An acute myeloid leukemia secondary to a myelodysplastic syndrome or therapy-related. (WHO, 2001)" "" + "acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor" "Acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor represent a subgroup of therapy-related myeloid neoplasms (t-MN), associated with treatment of an unrelated neoplastic disease with cytotoxic agents, like etoposid, doxorubicin, daunorubicin and others. The neoplastic cells often show rearrangements involving the mixed lineage leukemia gene at 11q23. This subgroup of t-MN is typically associated with overt leukemia, without preceding myelodysplastic syndrome, developing 2-3 years after exposure, presenting with non-specific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement." "" + "acute myeloid leukemia with t(8;21)(q22;q22) translocation" "" + "arthrogryposis syndrome" "" + "chronic diarrhea due to glucoamylase deficiency" "This syndrome is characterised by chronic diarrhoea in infancy or childhood in association with intestinal glucoamylase deficiency." "" + "chronic diarrheal disease" "Chronic form of diarrheal disease." "" + "congenital enterocyte heparan sulfate deficiency" "Congenital enterocyte heparan sulphate deficiency is characterised by massive enteric protein loss, secretory diarrhoea, and intolerance to enteral feeds during the first few weeks of life." "" + "obsolete epithelio-exfoliative colitis-deafness syndrome" "This syndrome is characterised by the association of severe congenital colitis with sensorineural deafness." "" "true" + "obsolete autoimmune enteropathy type 2" "" "true" + "autoimmune enteropathy type 3" "" + "autoimmune pancreatitis" "Autoimmune pancreatitis (AIP) is a rare pancreatic disease characterized by chronic non-alcoholic pancreatitis that presents with abdominal pain, steatorrhea, obstructive jaundice and responds well to steroid therapy and is seen in two subforms: type 1 AIP which affects elderly males, involves other organs and has increased immunoglobin G4 (IgG4) levels and type 2 AIP which affects both sexes equally but presents at a younger age and has no other organ involvement or increased IgG4 levels." "" + "IgG4-related disease" "A recently described mass-forming lesion that occurs in the pancreas, submandibular glands, lacrimal glands, lymph nodes, and hepatobiliary tract. It is characterized by the presence of marked tissue sclerosis and infiltration by numerous plasma cells. The plasma cells show immunohistochemical staining for IgG4 and the serum IgG4 levels are often increased." "" + "undetermined colitis" "Underterminate colitis designates a rare inflammatory bowel disease that clinically resembles CrohnBs disease and ulcerative colitis but that cannot be diagnosed as one of them after examination of an intestinal resection specimen." "" + "short bowel syndrome" "Short bowel syndrome is an intestinal failure due to either a congenital defect, intestinal infarction or extensive surgical resection of the intestinal tract that results in a functional small intestine of less than 200cm in length and is characterized by diarrhea, nutrient malabsoption, bowel dilation and dysmobility." "" + "obsolete rare disease involving intestinal motility" "True" "true" + "obsolete rare tumor of intestine" "Rare intestinal neoplasm." "True" "true" + "obsolete rare inflammatory bowel disease" "Rare inflammatory bowel disease." "True" "true" + "obsolete adenocarcinoma of small instestine" "An adenocarcinoma that arises from the small intestine. Histologic variants include mucinous adenocarcinoma and signet ring cell carcinoma." "" "true" + "obsolete leiomyosarcoma of small intestine" "" "true" + "myopathic intestinal pseudoobstruction" "" + "obsolete unclassified intestinal pseudoobstruction" "" "true" + "atresia of urethra" "Atresia of the urethra is a rare congenital bladder outlet obstruction, a fetal lower urinary tract obstruction (fetal LUTO), that is usually fatal. Unless there is some other egress for the urine to escape the bladder, such as patent urachus or anuro-rectal communication, these lesions are not compatible with renal development." "" + "vein of Galen aneurysm" "Vein of Galen aneurysm is a rare formof arteriovenous malformation in which the embryonic precursor to the vein of Galen, a vein at the base of the brain, dilates causing too much blood to rush to the heart. This can lead to rapid heart failure. Other features may include increased head circumference resulting from hydrocephalus, unusually prominent veins on the face and scalp, developmental delay, persistent headache, and other neurological findings. Vein of Galen aneurysm is often recognized on an ultrasound late in pregnancy. In other cases, it is diagnosed after birth. Although the exact cause remains unknown, this condition appears to result from a defect in early fetal development. Treatment is aimed at decreasing the blood flow through the malformation while maximizing the blood supply to the brain. Minimally invasive surgical techniques are preferred, such as endovascular embolization." "" + "aneurysm of sinus of Valsalva" "Sinus of Valsalva aneurysm (SVA) is a rare congenital heart malformation of one or more of the aortic sinuses, consisting of a dilation that when unruptured is usually asymptomatic but when ruptured presents with progressive exertional dyspnea, fatigue, chest pain and that can lead to congestive heart failure if left untreated." "" + "ascending aorta anomaly" "" + "aniridia-ptosis-intellectual disability-familial obesity syndrome" "Aniridia - ptosis - intellectual disability - familial obesity is an extremely rare syndrome described in three members of a family (a mother and her two children) that is characterized by the association of various ocular abnormalities (partial or complete aniridia, ptosis, pendular nystagmus, corneal pannus, persistent pupillary membrane, lenticular opacities, foveal hypoplasia, and low visual acuity) with various systemic anomalies including intellectual disability and obesity in the two children, and alopecia, cardiac abnormalities, and frequent spontaneous abortion in the mother. There have been no further descriptions in the literature since 1986." "" + "aniridia - intellectual disability syndrome" "Aniridia-intellectual disability syndrome is an extremely rare autosomal dominant developmental defect of the eye described in several members of one family that is characterized by the association of moderate intellectual disability with aniridia, lens dislocation, optic nerve hypoplasia and cataracts. There have been no further descriptions in the literature since 1974." "" + "anisakiasis" "Infection with roundworms of the genus anisakis. Human infection results from the consumption of fish harboring roundworm larvae. The worms may cause acute nausea; vomiting; or penetrate into the wall of the digestive tract where they give rise to eosinophilic granuloma in the stomach; intestines; or the omentum." "" + "ankyloblepharon filiforme-imperforate anus syndrome" "An extremely rare developmental defect during embryogenesis malformation syndrome characterized by bands of extensile tissue connecting the margins of the upper and lower eyelids, in association with anal atresia. Patients may additionally present cleft palate, hydrocephalus and meningomyelocele. There have been no further descriptions in the literature since 1993." "" + "obsolete babesiosis" "" "true" + "coronary artery congenital malformation" "" + "isolated lissencephaly type 1 without known genetic defects" "Isolated lissencephaly type 1 without known genetic defects belongs to the genetically heterogeneous group, classic lissencephaly. It is a diagnosis of exclusion, when neither associated malformations nor family history are present, and in the absence of mutations of genes known to be involved in classic lissencephaly. Clinically patients present with the common features of classic lissencephaly such as developmental delay, intellectual disability, and seizures." "" + "short stature-heart defect-craniofacial anomalies syndrome" "" + "esophageal malformation" "" + "gastroduodenal malformation" "" + "intestinal malformation" "" + "visceral malformation of the liver, biliary tract, pancreas or spleen" "" + "diaphragmatic or abdominal wall malformation" "" + "non-syndromic central nervous system malformation" "A central nervous system malformation that is not part of a larger syndrome." "" + "central nervous system malformation" "" + "obsolete rare anemia" "Rare anemia." "True" "true" + "obsolete rare intoxication" "Any of the forms of poisoning that have a rare incidence." "True" "true" + "obsolete syndrome with limb malformations as a major feature" "True" "true" + "pentasomy X" "Pentasomy X is a sex chromosome anomaly caused by the presence of three extra X chromosomes in females (49,XXXXX instead of 46,XX)." "" + "polysomy of X chromosome" "" + "pentasomy" "A chromosomal anomaly consisting of the presence of three chromosomes of the same type in addition to the normal diploid number." "" + "anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome" "Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome is a multiple congenital anomalies syndrome, reported in the offsprings of a consanguineous couple and characterized by multiple congenital skeletal (dolichocephaly, skull asymmetry, camptodactyly, clubfoot), muscular (muscle hypoplasia), ocular (anophthalmia, buphthalmos, retinal detachment, aniridia) and cardiac (prolapse of tricuspid valves, mitral and tricuspid insufficiency) abnormalities. An autosomal recessive inheritance with variable expressivity was suspected. There have been no further descriptions in the literature since 1992." "" + "radial deficiency-tibial hypoplasia syndrome" "" + "caudal appendage-deafness syndrome" "Caudal appendage-deafness syndrome is characterized by caudal appendage, short terminal phalanges, deafness, cryptorchidism, intellectual deficit, short stature and dysmorphism. It has been described in monozygotic twin boys." "" + "arachnodactyly-abnormal ossification-intellectual disability syndrome" "Arachnodactyly - abnormal ossification - intellectual disability is a multiple congenital developmental anomalies syndrome characterized by arachnodactyly of fingers and toes associated with craniofacial dysmorphism (including abnormal cranial ossification, frontal bossing, flat calvaria, shallow deformed orbits resulting in exophtalmos, midface hypoplasia and micrognathia), feeding difficulties in infancy, infantile muscular hypotonia, and developmental delay leading to intellectual disability." "" + "arachnodactyly-intellectual disability-dysmorphism syndrome" "Arachnodactyly-intellectual disability-dysmorphism syndrome is characterized by moderate intellectual deficit, brachycephaly, typical facies (thin lips and microstomia), ectomorphic habitus with extremely long, thin fingers and toes, and hypoplastic external genitalia. It has been described in three patients." "" + "aortic arch defects" "Congenital abnormalities of the aortic arch result from aberrant development of one or more components of the embyronic pharangeal arch system. Any component of tihs system can regress or persist abnormally, resulting in an extensive array of aortic arch anomalies. Clinically, they are classified by those that cause (or are likely to cause) physiolgogical abnormalities and those that do not. Physiologic abnormalities include tracheobronchial compression, esophageeal compression, and abnormal blood flow patteren." "" + "congenital anomaly of the great arteries" "" + "branchial arch disease" "A disease that involves the pharyngeal system development." "" + "arrhinia" "Arrhinia is an extremely rare, major congenital malformation consisting of an absence of the nose ranging from hyporrhinia (absence of external nasal structures) to total arrhinia (absence of external nose, nasal airways, olfactory bulbs, or olfactory nerve) often causing respiratory distress and requiring surgical correction. Arrhinia can be bilateral or unilateral (hemiarrhinia). Associated anomalies include ocular features (hypertelorism, microphthalmia, eyelid coloboma), facial clefts, midline defects and microtia." "" + "arrhinia-choanal atresia-microphthalmia syndrome" "Arhinia-choanal atresia-microphthalmia is a malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate." "" + "abnormal origin of the pulmonary artery" "" + "arthrogryposis-like syndrome" "Arthrogryposis-like syndrome, also known as Kuskokwim disease, is a very rare congenital contracture disorder, reported exclusively in Yup'ik Eskimos of the Kuskokwim River delta region of Alaska, characterized by multiple contractures of large joints (predominantly the knees and ankles) that present at birth or during childhood but are lifelong; deformities of the spine, pelvis and feet; and sometimes proximally or distally displaced patellae and muscle atrophy in the limbs with contractures. Additional radiological features include mild vertebral wedging, elongation of the vertebral pedicle, and clubbing of the distal clavicle. An autosomal recessive pattern of inheritance has been suggested." "" + "obsolete aspergillosis" "" "true" + "hereditary cerebellar ataxia" "Cerebellar ataxia that is transmitted from parent to child." "" + "ataxia with dementia" "True" + "obsolete rare intestinal disease" "Rare intestinal disease." "True" "true" + "anorectal malformation" "" + "opsoclonus-myoclonus syndrome" "Opsoclonus myoclonus syndrome (OMS) is a rare neuroinflammatory disease of paraneoplastic, parainfectious or idiopathic origin, characterized by opsoclonus, myoclonus, ataxia, and behavioral and sleep disorders." "" + "ataxia-photosensitivity-short stature syndrome" "Ataxia-photosensitivity-short stature syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by cerebellar-like ataxia, photosensitivity (mainly of the face and trunk), short stature and intellectual disability. Additonal features include clinodactyly, single palmar transverse crease, high-arched palate, pseudohypertrophy of the calves and aortic valve lesions. There have been no further descriptions in the literature since 1983." "" + "mitral atresia disorder" "A congenital heart defect characterized by the complete atresia of the mitral valve." "" + "spinal atrophy-ophthalmoplegia-pyramidal syndrome" "Spinal atrophy-ophthalmoplegia-pyramidal syndrome is a rare, bulbospinal muscular atrophy characterized by generalized neonatal hypotonia, progressive pontobulbar and spinal palsy, pyramidal signs, and deafness. External ophthalmoplegia and bilateral mydriasis are typical signs. There have been no further descriptions in the literature since 1994." "" + "obsolete balantidiasis" "" "true" + "severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome" "" + "blepharophimosis-radioulnar synostosis syndrome" "" + "blepharoptosis-cleft palate-ectrodactyly-dental anomalies syndrome" "" + "sino-auricular heart block" "" + "obsolete botulism" "" "true" + "brachydactyly-mesomelia-intellectual disability-heart defects syndrome" "Brachydactyly-mesomelia-intellectual disability-heart defects syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay, intellectual disability, thin habitus with narrow shoulders, mesomelic shortness of the arms, craniofacial dysmorphism (e.g. long lower face, maxillary hypoplasia, beak nose, short columella, prognathia, high arched palate, obtuse mandibular angle), brachydactyly (mostly involving middle phalanges) and cardiovascular anomalies (i.e. aortic root dilatation, mitral valve prolapse)." "" + "diphyllobothriasis" "Bothriocephalosis is a mammalian cosmopolitan intestinal parasitosis. In addition to non-specific digestive problems (nausea, abdominal pain, lack of appetite), bothriocephalosis provokes an anaemia caused by vitamin B12 deficiency that resembles Biermer anaemia (anaemia characterised by abnormally large red blood cells)." "" + "pseudopelade of Brocq" "Pseudo-pelade of Brocq is a rare hair abnormality characterized by onset in adulthood of soft, irregular, flesh-toned patches of alopecia primarily in the parietal and vertex portions of the scalp, without follicular hyperkeratosis or perifollicular inflammation." "" + "cryptogenic organizing pneumonia" "Cryptogenic organizing pneumonia (COP) is a form of idiopathic interstitial pneumonia characterized pathologically by organizing pneumonia (OP) that presents with non-specific flu-like symptoms, as well as cough and dyspnea and where no etiological agent is found." "" + "obsolete brucellosis" "" "true" + "medullary sponge kidney" "Medullary sponge kidney (MSK) is a birth defect of the tubules - tiny tubes inside the kidneys. In a normal kidney, urine flows through these tubules as it is being formed. In MSK, tiny sacs called cysts form in the medulla (the inner part of the kidney), creating a sponge-like appearance. The cysts keep urine from flowing freely through the tubules. MSK is present at birth but symptoms typically do not occur until adolescence or adulthood. Problems caused by MSK include blood in the urine, kidney stones, and urinary tract infections. MSK rarely leads to more serious problems, such as total kidney failure. There is no cure for this condition, so treatment is aimed at removing kidney stones and treating urinary tract infections with antibiotics." "" + "symmetrical thalamic calcifications" "Symmetrical thalamic calcifications are clinically distinguished by a low Apgar score, spasticity or marked hypotonia, weak or absent cry, poor feeding, and facial diplegia or weakness." "" + "butyrylcholinesterase deficiency" "Butyrylcholinesterase (BChE) deficiency is a metabolic disorder characterised by prolonged apnoea after the use of certain anaesthetic drugs, including the muscle relaxants succinylcholine or mivacurium and other ester local anaesthetics. The duration of the prolonged apnoea varies significantly depending on the extent of the enzyme deficiency." "" + "metabolic disease involving other neurotransmitter deficiency" "" + "idiopathic camptocormia" "Idiopathic camptocormia is a postural disease characterized by an anterior flexion of the torso (during walking or standing) that resolves in the supine position and that is caused by weakness of the lumbar paraspinal muscles (spinal extensors), due to massive fatty infiltrations of posterior spinal muscles, without an identifiable etiology." "" + "acquired skeletal muscle disease" "An instance of skeletal muscle disease that is acquired during the lifetime of the individual." "" + "camptodactyly-taurinuria syndrome" "Camptodactyly-taurinuria syndrome is a congenital malformation syndrome characterized by the association of a permanent camptodactyly of the fingers with the over excretion of taurine in the urine. Camptodactyly mainly affects the little finger, although any finger may be involved. The disease has been described in 17 affected patients from 4 unrelated families. An autosomal dominant inheritance has been suggested. There have been no further descriptions in the literature since 1966." "" + "complete atrioventricular canal" "Complete atrioventricular canal (CAVC), also referred to as complete atrioventricular septal defect, is characterized by an ostium primum atrial septal defect, a common atrioventricular valve and a variable deficiency of the ventricular septum inflow." "" + "chronic beryllium disease" "Chronic beryllium disease (CBD) is a granulomatous, interstitial lung disease that occurs in individuals who develop beryllium sensitization (BeS), a cell-mediated immune response to environmental and occupational beryllium exposure. BeS precedes the lung disease that may present with chronic dry cough, fatigue, weight loss, chest pain, and increasing dyspnea." "" + "partial atrioventricular canal" "Partial atrioventricular canal (PAVC) is a congenital heart malformation characterized by an atrial septal defect (ASD; ostium primum), clefts of mitral and occasionally tricuspid valves, two separate atrioventricular (AV) valve annuli and an intact ventricular septum. The typical symptoms of PAVC are impaired exercise capacity and exertional dyspnea." "" + "obsolete prostate cancer" "" "true" + "cardiomyopathy-cataract-hip spine disease syndrome" "Cardiomyopathy - cataract - hip spine disease describes the extremely rare triad of dilated cardiomyopathy, premature cataract, and articular disease of the hips and spine characterized by hip joint degeneration, irregular intervertebral disks, and platyspondyly. The ocular abnormalities are often the first symptoms to arise. There have been no further descriptions in the literature since 1985." "" + "maternally-inherited cardiomyopathy and hearing loss" "Maternally inherited cardiomyopathy and hearing loss is a mitochondrial disease described in two unrelated families to date that has a heterogeneous clinical presentation characterized by the association of progressive sensorineural hearing loss with hypertrophic cardiomyopathy and, in the majority of cases, encephalomyopathy symptoms such as ataxia, slurred speech, progressive external opthalmoparesis (PEO), muscle weakness, myalgia, and exercise intolerance." "" + "heart-hand syndrome type 2" "Heart-hand syndrome type 2 is an extremely rare heart-hand syndrome described in two families to date, that is characterized by upper limb malformations (brachytelephalangy type D, hypoplastic deltoids, mild shortening of the fourth and fifth metacarpals in some individuals, skeletal anomalies in the humerus, radius, ulnae, and thenar bones) and cardiac arrhythmias (junctional rhythms and atrial fibrillation)." "" + "mesenchymatous palpebral tumor" "" + "disorder of glycosylation" "A disease that has its basis in the disruption of glycosylation." "" + "obsolete vulvar intraepithelial neoplasia" "" "true" + "herpes simplex virus keratitis" "A superficial, epithelial Herpesvirus hominis infection of the cornea, characterized by the presence of small vesicles which may break down and coalesce to form dendritic ulcers (keratitis, dendritic). (Dictionary of Visual Science, 3d ed)" "" + "infectious epithelial keratitis" "Infectious epithelial keratitis is a rare, potentially sight-threatening, acquired ocular disease chracterized by corneal epithelium inflammation resulting from viral (mainly Herpes Simplex virus), bacterial, fungic or protist infection, manifesting with variable symptoms, such as conjunctival hyperemia, lacrimation, rapid onset of pain, blurred vision and/or photophobia, depending on the causative agent." "" + "neurotrophic keratopathy" "Neurotrophic keratopathy is a rare degenerative disease of the cornea characterized by reduction or loss of corneal sensitivity that can be asymptomatic or present with red-eye and, during the early stages of the disease, a minor decrease in visual acuity. It eventually leads to loss of vision." "" + "stromal keratitis" "Herpes simplex (HSV) stromal keratitis is an infectious ocular disease of either necrotizing or non-necrotizing form, due to an HSV infection, and characterized by corneal stromal necrosis, inflammation, ulceration and infiltration by leukocytes. Corneal perforation and blindness can also occur in severe cases." "" + "endotheliitis" "An inflammatory disease involving a pathogenic inflammatory response in the endothelium." "" + "segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome" "Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome is a rare, genetic, polymalformative syndrome characterized by progressive, proportionate, asymmetric segmental overgrowth (with soft tissue hypertrophy and ballooning effect) that develops and progresses rapidly in early childhood, arteriovenous and lymphatic vascular malformations, lipomatosis and linear epidermal nevus (arranged in whorls along the lines of Blaschko). Clinical symptoms of Cowden syndrome, such as macrocephaly and progressive development of numerous hypertrophic hamartomatous and neoplastic lesions involving multiple organs and systems, are also associated. Patients present an increased risk of developing cancer." "" + "nephrogenic systemic fibrosis" "Nephrogenic systemic fibrosis (NSF) is a rare systemic fibrosing condition observed in renally impaired patients and characterized by a hardening and thickening of the skin with fibrotic plaques or papules, pruritus, joint pain and stiffness, muscle weakness, limitation of range of motion, and yellowed eyes. It is generally associated with administration of gadolinium-based magnetic resonance imaging contrast agents (GBCA) in patients with kidney disease." "" + "intractable diarrhea-choanal atresia-eye anomalies syndrome" "Intractable diarrhea-choanal atresia-eye anomalies syndrome is characterised by the association of intractable diarrhoea of infancy with choanal atresia. Short stature, a prominent and broad nasal bridge, micrognathia, single palmar creases, chronic corneal inflammation, cytopenia, and abnormal hair texture were also reported. So far, the syndrome has been described in three children from the same family. The absence of intellectual deficit and immune deficiency allow this syndrome to be distinguished from other forms of intractable diarrhoea of infancy described previously." "" + "cardiac anomalies-heterotaxy syndrome" "Cardiac anomalies-heterotaxy syndrome is characterised by non-compaction of the ventricular myocardium, bradycardia, pulmonary valve stenosis, and secundum atrial septal defect. Laterality sequence anomalies are also present. So far, the syndrome has been described in nine members from three generations of the same family. Transmission is autosomal dominant and linkage to chromosome 6p24.3-21.2 was reported." "" + "obsolete microcephaly-digital anomalies-intellectual disability syndrome" "" "true" + "pellucid marginal degeneration" "" + "Asherman syndrome" "" + "amyloidosis" "A disorder characterized by the localized or diffuse accumulation of amyloid protein in various anatomic sites. It may be primary, due to clonal plasma cell proliferations; secondary, due to long standing infections, chronic inflammatory disorders, or malignancies; or familial. It may affect the nerves, skin, tongue, joints, heart, liver, spleen, kidneys and adrenal glands." "" + "nodular cutaneous amyloidosis" "Primary localized cutaneous nodular amyloidosis (PLCNA) is the most rare form of primary cutaneous amyloidosis, a skin disease characterized by the accumulation of amyloid deposits in the dermis, characterized clinically by yellowish waxy crusted nodules and papules on the face, lower extremities, trunk, scalp, and genitalia and histologically by the localized deposition of immunoglobulin-derived amyloid in the papillary dermis and subcutis. PLCNA can be associated with connective tissue disorders such as SjC6grenBs syndrome and CREST syndrome." "" + "macular amyloidosis" "Macular amyloidosis (MA) is a rare chronic form of cutaneous amyloidosis, a skin disease characterized by the accumulation of amyloid deposits in the dermis, clinically characterized by pruritic hyperkeratotic gray-brown macules that give a rippled or reticulated pattern of pigmentation usually in the upper back and extensor sites of arms, forearms and legs, and histologically by the deposition of amyloid in the upper dermis and close to the basal cell layer of the epidermis. MA is commonly associated with other skin diseases, such as atopic dermatitis." "" + "obsolete rare endometriosis" "Rare endometriosis." "True" "true" + "Lemierre syndrome" "Lemierre syndrome is a rare, potentially lethal, oropharyngeal infectious disease occurring in immunocompetent adolescents and young adults that is mainly due to Fusobacterium necrophorum and that is characterized by septic thrombophlebitis of the internal jugular vein that leads to septic, usually pulmonary, embolism, associated with ENT (ear, nose, and throat) infection that manifests with fever, neck pain, and tonsillopharyngitis." "" + "Madras motor neuron disease" "Madras motor neuron disease (MMND) is characterized by weakness and atrophy of limbs, multiple lower cranial nerve palsies and sensorineural hearing loss." "" + "laminopathy type Decaudain-Vigouroux" "Laminopathy, type Decaudain-Vigouroux is characterised by severe metabolic alterations (insulin resistance or hyperinsulinaemia, hypertriglyceridaemia with low HDL-cholesterol, and altered glucose tolerance) and muscular hypertrophy, myalgia, or weakness." "" + "obsolete Auriculocondylar syndrome" "" "true" + "autism-facial port-wine stain syndrome" "This syndrome is characterised by the presence of a unilateral angioma on the face and autistic developmental problems characterised by language delay and atypical social interactions." "" + "choanal atresia, unilateral" "Unilateral choanal atresia is a, usually sporadic, congenital anomaly that is more commonly seen in females than in males (2:1), where the nose is blocked by bony or soft tissue formed during embryologic development on only one side (more commonly on the right side) and which is characterized by nasal obstruction and rhinorrhea, usually presenting at birth but that may go undetected until a respiratory infection aggravates the condition." "" + "choanal atresia, bilateral" "Bilateral choanal atresia is a congenital anomaly that is usually sporadic (but some familial cases have been reported), is more commonly seen in females than in males (2:1), and where the nose is blocked on both sides by bony or soft tissue formed during embryological development. It is characterized by respiratory distress relieved by crying and rhinorrhea that presents at birth." "" + "primary laryngeal lymphangioma" "Primary laryngeal lymphangioma is a rare, benign, congenital malformation of the lymphatic system characterized by a polypoidal, variable-sized, soft tissue mass located in the larynx. Most lesions manifest by the 2nd year of life and, depending on the size, patients may present with changes in voice, dysphagia, stridor, airway obstruction and/or respiratory distress. Cystic hygroma of the neck is frequently associated." "" + "neonatal brainstem dysfunction" "Neonatal brainstem dysfunction is a rare neurologic disease characterized by the association of suction-swallowing dysfunction, abnormal laryngeal sensitivity and motility (manifesting with dyspnea or obstructive apnea-hypopnea), gastroesophageal reflux (generally resistant to medication) and cardiac vagal overactivity (e.g. brachycardia, vasovagal episodes) of varying degrees of severity. Impaired social interaction has also been reported." "" + "congenital laryngeal palsy" "Congenital laryngeal palsy is a rare larynx anomaly characterized by unilateral or bilateral paralysis of the vocal cords as a result of dysfunction of the motor nerve supply to the larynx. Patients typically present at birth (or shortly thereafter) with stridor, weak or breathy cry, dysphonia or aphonia, feeding or aspiration difficulties and, occasionally, respiratory compromise. Neurological disease, masses that cause compression and aberrant vessels are often associated. Most cases resolve spontaneously over 6-12 months." "" + "laryngotracheal angioma" "" + "obsolete Pierre Robin syndrome associated with collagen disease" "" "true" + "obsolete rare disease with Pierre Robin syndrome" "True" "true" + "obsolete Pierre Robin syndrome associated with a chromosomal anomaly" "" "true" + "obsolete Pierre Robin syndrome associated with branchial archs anomalies" "" "true" + "obsolete Pierre Robin syndrome associated with bone disease" "" "true" + "cataract-intellectual disability-anal atresia-urinary defects syndrome" "Cataract-intellectual disability-anal atresia-urinary defects syndrome is characterised by congenital cataracts with squint, intellectual deficit, anomalies of the genitourinary tract (rectovesical fistula, micropenis, undescended testis, and hypospadias), imperforate anus and other anomalies." "" + "cataract-deafness-hypogonadism syndrome" "Cataract-deafness-hypogonadism syndrome is an extremely rare multiple congenital abnormality syndrome, described in only three brothers to date, that is characterized by the association of congenital cataract, sensorineural deafness, hypogonadism, mild intellectual deficit, hypertrichosis, and short stature. There have been no further descriptions in the literature since 1995." "" + "night blindness-skeletal anomalies-dysmorphism syndrome" "This syndrome is characterized by night blindness, skeletal abnormalities (sloping shoulders, joint hyperextensibility, minor radiological anomalies) and characteristic facies (periorbital anomalies, malar flatness, retrognathia)." "" + "obsolete rare bone development disorder" "Any of the forms of bone development disease that have a rare incidence." "True" "true" + "overgrowth/obesity syndrome" "" + "obsolete rare developmental defect with connective tissue involvement" "True" "true" + "adrenomyeloneuropathy" "An adult form of the peroxisomal disease X-linked adrenoleukodystrophy (X-ALD), characterized by spastic paraparesia and often associated with peripheral adrenal insufficiency in males. Both males and females can be affected with AMN." "" + "drug rash with eosinophilia and systemic symptoms" "DRESS syndrome (Drug Rash with Eosinophilia and Systemic Symptoms) is a hypersensitivity reaction characterized by a generalized skin rash, fever, eosinophilia, lymphocytosis and visceral involvement (hepatitis, nephritis, pneumonitis, pericarditis and myocarditis) and, in some patients, reactivation of human herpes virus 6." "" + "toxic dermatosis" "" + "congenital panfollicular nevus" "Congenital panfollicular nevus is a rare, benign, skin tumor disorder characterized by the presence of congenital, large (few centimeters), elevated, well-circumscribed, pink-tan, multinodular, non-ulcerative, bosselated-surface skin lesions located on the neck, scalp or hand and which enlarge with time. Histologically, hamartomatous proliferation containing irregularly arranged, malformed hair follicles in various stages of development, surrounded by fibrous tissue and densely distributed within the dermis is observed." "" + "acute transverse myelitis" "Acute transverse myelitis (ATM) is an inflammatory demyelinating disorder of the spinal cord that can be either idiopathic (IATM) or secondary to a known cause (SATM)." "" + "secondary acute transverse myelitis" "Secondary acute transverse myelitis (ATM) is characterized by focal inflammation within the spinal cord due to a known cause, usually an inflammatory disease." "" + "idiopathic acute transverse myelitis" "Idiopathic acute transverse myelitis (ATM) is an immune-mediated inflammatory demyelinating disorder of the spinal cord with motor, sensory and autonomic involvement." "" + "perioral myoclonia with absences" "Perioral myoclonia with absences is a rare epilepsy syndrome characterized by absence seizures with perioral myoclonia as the main seizure type, accompanied by generalized tonic-clonic seizures, appearing before or together with absences. Consciousness is usually impaired, although to variable degree. Commonly observed absence status epilepticus, poor response to antiepileptic drugs and persistence of seizures into adulthood, in the presence of normal neurological status and intelligence, are additional clinical features of this syndrome." "" + "Jeavons syndrome" "Jeavons syndrome is an idiopathic generalized form of reflex epilepsy characterized by childhood onset, unique seizure manifestations, striking light sensitivity, and possible occurrence of generalized tonic-clonic seizures." "" + "multicentric reticulohistiocytosis" "Multicentric reticulohistiocytosis (MRH) is a rare non-Langerhans cell histiocytosis characterized by the association of specific nodular skin lesions and destructive arthritis." "" + "leukoencephalopathy with bilateral anterior temporal lobe cysts" "Leukoencephalopathy with bilateral anterior temporal lobe cysts is a nonprogressive neurological disorder marked by intellectual deficit, spasticity and motor retardation associated with characteristic MRI findings of anterior bilateral temporal lobe cysts and multilobar leukoencephalopathy. So far, around 30 cases have been reported in the literature. Onset occurs in the first few months of life. Sensorineural deafness and microcephaly have also been reported. The etiology is unknown but an autosomal recessive mode of inheritance has been suggested." "" + "progressive cavitating leukoencephalopathy" "Progressive cavitating leukoencephalopathy is characterized by acute episodes of neurological deficit (ataxia, dysarthria, seizures) with irritability and opisthotonus followed by either steady deterioration or alternating periods of rapid progression and prolonged periods of stability." "" + "17q11.2 microduplication syndrome" "17q11.2 microduplication syndrome is characterized by dysmorphic features and intellectual deficit." "" + "neuropathy with hearing impairment" "This syndrome is characterized by the association of sensorineural hearing impairment and peripheral neuropathy." "" + "hereditary sensory and autonomic neuropathy with deafness and global delay" "This syndrome is characterized by a sensory and autonomic axonal neuropathy, sensorineural hearing loss and persistent global developmental delay." "" + "secondary hypoparathyroidism due to impaired parathormon secretion" "" + "demyelinating hereditary motor and sensory neuropathy" "" + "axonal hereditary motor and sensory neuropathy" "" + "distal hereditary motor neuropathy" "" + "Charlie M syndrome" "Charlie M syndrome is a rare bone developmental disorder which belongs to a group of oromandibular limb hypogenesis syndromes that includes hypoglossia-hypodactyly and glossopalatine ankylosis. The major anomalies which occur commonly in this group are hypoplasia of the mandible, syndactyly and ectrodactyly, small mouth, cleft palate, hypodontia, and facial paralysis. Patients with Charlie M syndrome also present with hypertelorism, absent or conically crowned incisors, and variable degrees of hypodactyly of the hands and feet. There have been no further descriptions in the literature since 1976." "" + "" "true" + "linear atrophoderma of Moulin" "Linear atrophoderma of Moulin (LAM) is characterized by mildly atrophic and hyperpigmented band-like lesions that follow the lines of Blaschko on the trunk or limbs. Since its initial description in 1992, less than 30 cases have been reported in the literature. Onset occurs during childhood or adolescence and the disease is non-progressive. There is no prior inflammation or subsequent scleroderma. The aetiology is unknown but as LAM follows the lines of Blaschko it has been suggested that the disease is caused by mosaicism of a predisposing gene." "" + "obsolete Saldino-Mainzer syndrome" "" "true" + "primary central nervous system vasculitis" "" + "oromandibular-limb anomalies syndrome" "" + "first branchial cleft anomaly" "" + "third branchial cleft anomaly" "" + "fourth branchial cleft anomaly" "" + "cervical dermoid cyst" "Cervical dermoid cyst is a rare, benign cutaneous neoplasm containing keratinized epithelium and dermal derivatives, such as hair follicles, sweat and sebaceous glands, smooth muscle or fibroadipose tissue which usually manifests as a slow-growing, painless mass in the submandibular or sublingual space. Depending on the location, and especially after sudden enlargement, it can cause dyspnea, dysphagia or dysphonia." "" + "commissural lip fistula" "A cysts and fistulae of the face and oral cavity that involves the labial commissure." "" + "lower lip fistula" "A cysts and fistulae of the face and oral cavity that involves the lower lip." "" + "cervicofacial fibrochondroma" "" + "digestive duplication cyst of the tongue" "Digestive duplication cyst of the tongue is an extremely rare otorhinolaryngological malformation which occurs during early embryogenesis and is characterized by a single, and on occasion multiple, cystic lesion that is most frequently located in the anterior portion of the tongue, either deeply embedded within it or superficially on it. Depending mostly on size and location of the cyst, patients could be asymptomatic or could present a wide array of symptoms, such as varying degrees of respiratory and feeding difficulties, lingual swelling and protrusion, dysphagia, and more rarely, recurrent bleeding or brownish discharge from a lingual sinus." "" + "epignathus" "Epignathus is a very rare and life threatening intraoral teratoma, usually arising from the maxilla, mandible, palate or base of skull and invading the cranium, nasopharynx or oral cavity. Epignathus is more commonly seen in females, and presents with various manifestations (depending on the tumor size) including obstructive polyhydramnios in the prenatal period and dyspnea, cyanosis, cough, difficulty in sucking and swallowing, and rarely vomiting (due to swallowing difficulties) postnatally. When large, they can lead to airway obstruction, asphyxia and death in the neonatal period." "" + "nasolacrimal duct cyst" "Nasolacrimal duct cyst describes a unilateral or bilateral congenital cyst of the nasolacrimal duct, which is almost always associated with dacryocystocele, presenting most commonly at birth or a few weeks of age (but rarely presenting in adulthood) as a benign, grayish blue mass in the inferomedial canthus or in the nasal cavity, that can cause epiphora, dacryocystitis (inflammation of the lacrimal sac) and nasal obstruction. It is more commonly reported in females." "" + "polyrrhinia" "Polyrrhinia is an extremely rare, major congenital malformation characterized by complete duplication of the nose resulting in twofully developed noses often associated with choanal atresia, causing respiratory distress and necessitating surgical repair." "" + "supernumerary nostril" "Supernumerary nostril is an extremely rare congenital malformation characterized by the presence of one or more accessory nostrils, with or without accessory cartilage, located medially, above, below or laterally to the other nostrils. Unlike in polyrhinia there is no duplication of the nasal septum/cavity. Supernumerary nostril is often associated with other congenital malformations usually of face." "" + "proboscis lateralis" "Proboscis lateralis (PL) is a rare congenital facial abnormality characterized by failed development of the external nose on one side that is replaced by a tubular structure composed of skin and soft tissue usually attached at the inner canthus of the eye and therefore often associated with maldevelopment of the nasal cavity or paranasal sinuses of the affected side. PL is also associated with other craniofacial abnormalities such as orbital anomalies, cleft lip/palate, frontal encephalocele and holoprosencephaly." "" + "nasopharyngeal teratoma" "A teratoma that involves the nasopharynx." "" + "nasal glial heterotopia" "Nasal glial heterotopia is a rare developmental abnormality presenting usually at birth or in early childhood (rarely in adulthood) as a benign, non-pulsatile mass that can lead to nasal obstruction, deformation of the septum and nasal bone, and respiratory distress if untreated. Nasal glial heterotopias have no communication with the central nervous system; however an associated defect in the cribriform plate is sometimes reported." "" + "nasal ganglioglioma" "Nasal ganglioglioma is a rare tumor, presenting in newborns, containing both neuronal and astrocytic components and that can be endonasal, extranasal or both. It is usually identified as a nasal mass that may cause feeding difficulties and nasal obstruction." "" + "ganglioglioma" "A well differentiated, slow growing neuroepithelial neoplasm composed of neoplastic, mature ganglion cells and neoplastic glial cells. Some gangliogliomas show anaplastic features in their glial component and are considered to be WHO grade III. Rare cases of newly diagnosed gangliogliomas with grade IV (glioblastoma) changes in the glial component have also been reported. (Adapted from WHO)" "" + "nasal encephalocele" "Nasal encephalocele is an extracranial herniation of intracranial contents (that maintain a connection to the subarachnoid space) into the fonticulus frontalis, presenting with nasal broadening and/or as a compressible, blue, pulsatile mass near the nasal bridge (that enlarges on crying or with jugular vein compression) or as an intranasal mass originating in the cribiform plate and that can cause nasal obstruction or respiratory distress. Hydrocephalus and increased intracranial pressure are also reported in some cases." "" + "isolated encephalocele" "Brain tissue herniation through a congenital or acquired defect in the skull. The majority of congenital encephaloceles occur in the occipital or frontal regions. Clinical features include a protuberant mass that may be pulsatile. The quantity and location of protruding neural tissue determines the type and degree of neurologic deficit. Visual defects, psychomotor developmental delay, and persistent motor deficits frequently occur." "" + "congenital subglottic stenosis" "" + "congenital laryngeal cyst" "Congenital laryngeal cyst is a rare larynx anomaly characterized by a cyst involving the larynx or supraglottis locations, such as the epiglottis and vallecula. Timing and severity of presentation depend on the size of the cyst and its proximity to the glottis and range from severe prenatal airway obstruction leading to polyhydramnios and pulmonary hypoplasia to postnatal inspiratory stridor associated with muffled cry, hoarseness and cyanotic episodes, and to feeding difficulties and failure to thrive. It can be associated with laryngomalacia." "" + "otomandibular dysplasia" "" + "hemifacial microsomia" "" + "glossopalatine ankylosis" "Glossopalatine ankylosis is a disorder belonging to the group of oromandibular-limb hypogenesis syndromes (OLHS) and is characterised by the presence of an intraoral band of variable thickness attaching the tongue to the hard palate or maxillary alveolar ridge." "" + "frontonasal arteriovenous malformation" "Frontonasal arteriovenous malformation is a rare vascular anomaly characterized by abnormal communication between arteries and veins, bypassing the capillary bed, located in the frontonasal area. It may present with intermittent nasal bleeding, blurred vision, pustule formation and/or disfigurement. Overlying skin may be of normal appearance or may manifest a red, pulsatile mass with local rise of temperature. Other features may include pain, ulceration, excessive growth and/or congestive heart failure." "" + "facial arteriovenous malformation" "Facial arteriovenous malformation is a rare vascular anomaly characterized by abnormal communication between arteries and veins, bypassing the capillary bed, located in the facial area. Lesions may be asymptomatic or may manifest with pain, ulceration, pulsation, tinnitus, minor bleeding or potentially life-threatening hemorrhage, blurred vision, impaired hearing, headache, paresthesia, enlargement of facial bones with intraosseous lesions, intraosseous hemangiomas, and speech, breathing and swallowing difficulties, as well as neuropathy." "" + "maxillary arteriovenous malformation" "Maxillary arteriovenous malformation is a rare vascular anomaly characterized by an abnormal connection of the arterial and venous vasculature, without capillary connections, in the maxillofacial area, usually presenting with chronic, intermittent, and potentially life-threatening, hemorrhage. Association with infection, pain, pressure, pulsation, swelling, facial asymmetry, headache, ocular pain, tinnitus, otalgia, epistaxis, toothache and/or teeth mobility and compressibility into their sockets is possible, although it may also be asymptomatic." "" + "mandibular arteriovenous malformation" "Mandibular arteriovenous malformation is a rare vascular anomaly characterized by an abnormal connection of the arterial and venous vasculature, without capillary connections, in the mandibular area, commonly presenting with minor gingival bleeding, dental loosening, lower lip numbness, facial deformity and malocclusion. This usually high-flow vascular malformation may also present with potentially life-threatening, spontaneous, or tooth extraction-induced, hemorrhagic shock." "" + "non-involuting congenital hemangioma" "Non-involuting congenital hemangioma (NICH) is a rare type of infantile hemangioma, which is a tumor that forms from the abnormal growth of blood vessels in the skin. NICH looks like an oval,purplish mark or bump that can occur on any part of the body. NICH is present from birth (congenital) and increases in size as the child grows. Unlike other hemangiomas, NICH do not disappear spontaneously (involute)." "" + "rapidly involuting congenital hemangioma" "Rapidly involuting congenital hemangiomas (RICH) are a distinctive type of congenital hemangioma that are fully formed in utero and differ from non-involuting congenital haemangiomas (NICH) mainly because they undergo rapid postnatal involution." "" + "cerebrofacial arteriovenous metameric syndrome" "A disorder characterized by vascular malformations that encompasses a spectrum of phenotypic expression involving arteriovenous malformations (AVMs) of the cerebral, orbital, and facial region." "" + "cerebrofacial arteriovenous metameric syndrome type 1" "" + "cerebrofacial arteriovenous metameric syndrome type 3" "" + "diffuse lymphatic malformation" "" + "isolated congenital syngnathia" "Isolated congenital syngnathia is a very rare developmental defect during embryogenesis characterized by varying degrees of congenital fusion (ranging from simple mucosal adhesions to extensive bony fusion) of mandible to maxilla that is not associated with any other malformations. Patients present with mouth opening limitation (which could range from severe to minimal restriction) that typically results in feeding, swallowing and/or respiratory difficulties which may lead to failure to thive, malnutrition and/or temporomandibular joint ankylosis." "" + "nasal dorsum fistula/cyst" "" + "facial cleft" "A congenital abnormality consisting of an opening or gap in the face, which results from incomplete fusion of one or more of the embryonic facial prominences." "" + "median cleft of the upper lip and maxilla" "Median cleft of the upper lip and maxilla is a rare, congenital, developmental defect during embryogenesis characterized by a midline vertical cleft through the upper lip and premaillary bone (can also involve the nasal septum and central nervous system). The phenotypic spectrum is highly variable (ranging from a simple vermillion notch to a wide complete cleft) and hypo/hypertelorism, telecanthus, monophthalmia, flat or cleft nose, wide columella, median alveolar cleft and cranial malformations may be associated." "" + "paramedian nasal cleft" "Paramedian nasal cleft is a rare developmental defect during embryogenesis characterized by a unilateral or bilateral coloboma of the nose, ranging in severity from a small notch, resulting in minor deviation of the nasal septum, to variable-sized clefts of the nasal ala which may be associated with small cysts or sinuses in the nasal midline. Defect may be isolated or may occur in association with cleft lip and/or other craniofacial anomalies (e.g. hypertelorism, broadening of nasal root, midline cleft). Dorsum and apex of nose are usually well preserved." "" + "paramedian facial cleft" "" + "Tessier number 5 facial cleft" "" + "Tessier number 6 facial cleft" "" + "midline cervical cleft" "Midline cervical cleft (MCC) is a rare congenital anomaly characterized by the presence at birth of a vertical, atrophic and usually erythematous skin defect, lacking adnexal elements in the midline of the neck that may be attached to a subcutaneous fibrous cord of variable length; a superior skin tag; and an inferior, short (usually about 1 cm in length) sinus (possibly with presence of discharge). If untreated (by surgical removal) complications include restriction of neck extension due to contracture and scarring. It is sometimes associated with other developmental defects such as bifid mandible, thyroglossal duct and branchial cysts, and microgenia." "" + "cleft lip with or without cleft palate" "" + "orofaciodigital syndrome type 12" "Orofaciodigital syndrome type 12 is a rare subtype of orofaciodigital syndrome, with sporadic occurrence, characterized by cardiac (septum hypertrophy) and central nervous system abnormalities (myelomeningocele, Sylvius aqueduct stenosis, corpus callosum agenesis, vermis hypoplasia), in addition to oral, facial and digital malformations (gingival frenulae, bifid tongue, supernumerary teeth, macrocephaly, hypertelorism, pre- and post-axial polydactyly in hands, preaxial polydactyly in feet and club feet). Skeletal anomalies, such as short tibiae and central, Y-shaped metacarpals, are also associated." "" + "orofaciodigital syndrome type 13" "Orofaciodigital syndrome type 13 is a rare subtype of orofaciodigital syndrome, with sporadic occurrence, characterized by cardiac (mitral and tricuspid valve dysplasia) and neuropsychiatric manifestations (epilepsy, depression), in addition to oral, facial and digital malformations (lingual hamartomas, cleft lip, and brachydactyly, clinodactyly, syndactyly of hands and feet). Leukoaraiosis, on brain MRI examination, is also associated." "" + "obsolete anaplastic thyroid carcinoma" "Anaplastic thyroid carcinoma may represent the ultimate dedifferentiation step of thyroid tumorigenesis and is one of the most severe cancers in humans." "" "true" + "lethal chondrodysplasia, Moerman type" "" + "lethal recessive chondrodysplasia" "Lethal recessive chondrodysplasia is an extremely rare lethal form of chondrodysplasia characterized by severe micromelic dwarfism, short and incurved limbs with normal hands and feet, facial dysmorphism (disproportionately large skull, frontal prominence, slightly flattened nasal bridge and short neck), muscular hypotonia, hyperlaxity of the extremities, and a narrow thorax. Most patients die of respiratory distress during the first hours or weeks of life. There have been no further descriptions in the literature since 1988." "" + "chondrodysplasia" "" + "choroidal atrophy-alopecia syndrome" "Choroidal atrophy - alopecia is a very rare ectodermal dysplasia syndrome, characterized by the association of choroidal atrophy (sometimes regional), together with other ectodermal dysplasia features including fine and sparse hair, absent or decreased lashes and eyebrows, and possibly mild visual loss and dysplastic/thick/grooved nails." "" + "choroideremia-hypopituitarism syndrome" "" + "ring chromosome 1" "Ring chromosome 1 syndrome is an autosomal anomaly characterized by variable clinical features, most commonly including significant intrauterine and postnatal growth failure, developmental delay, intellectual disability, microcephaly, and dysmorphic facial features. Some less frequent clinical features are dysgenesis of corpus callosum, atrial septal defect, rocker bottom feet and clinodactyly." "" + "ring chromosome 10" "Ring chromosome 10 syndrome is characterized by intellectual deficit, growth retardation, and various dysmorphic features. Less than 20 cases have been described. The main features are low birth weight, microcephaly, stubby nose with a prominent nasal bridge, hypertelorism, strabismus, wide-set nipples, single transverse palmar creases, and clinodactyly. Boys have undescended testes and hypoplastic scrotum. Congenital heart disease, hydronephrosis or renal hypoplasia was present in some of the cases." "" + "ring chromosome 12" "Ring chromosome 12 syndrome is a rare chromosomal anomaly syndrome with a highly variable phenotype principally characterized by postnatal growth retardation, variable degrees of developmental delay and intellectual disability, microcephaly and facial dysmorphism (incl. epicanthal folds, low-set, cupped ears, prominent nose with flat nasal bridge, high arched palate, micrognathia). Skeletal abnormalities (e.g. pectus excavatum, clinodactyly), congenital heart malformations, cryptorchidism, café-au-lait spots and epilepsy have also been reported." "" + "ring chromosome 17" "Ring chromosome 17 syndrome is a rare chromosomal anomaly syndrome, resulting from partial deletion of chromosome 17, characterized by highly variable manifestations, ranging from a severe phenotype which presents with lissencephaly and severe intellectual disability to a milder phenotype that includes short stature, microcephaly, intellectual disability, seizures (that may be pharmacoresistant), café-au-lait spots, retinal flecks and minor facial dysmorphism, depending on the presence or absence of the Miller-Dieker critical region." "" + "ring chromosome 18" "Ring chromosome 18 syndrome is an autosomal anomaly characterized by variable clinical features, most commonly including hypotonia, neonatal feeding and respiratory difficulties, microcephaly, global developmental delay and intellectual disability, growth hormone deficiency, hypothyroidism, hearing loss, aural atresia, dysmorphic facial features and behavioral characteristics." "" + "ring chromosome 19" "Ring chromosome 19 syndrome is a rare chromosomal anomaly syndrome with a highly variable phenotype that may range from normal to patients with profound intellectual disability, developmental delay, learning disability (esp. speech) and mild dysmorphism (incl. micro/macrocephaly, prominent forehead, low-set and posteriorly rotated ears, hypertelorism, high nasal bridge, prominent philtrum, retro/micrognathia). Mild hypotonia and autistic-like mannerisms (e.g. hand opening and closing, head banging) may also be associated. Other anomalies, such as cutis laxa, hearing loss, syndactyly, digital hypoplasia, and talipes equinovarus, have also been reported." "" + "ring chromosome 20" "Ring chromosome 20 syndrome is marked by a characteristic seizure phenotype. Depending on the amount of chromosomal loss and associated mosaicism, ring(20) can be associated with macrocephaly, mild to moderate intellectual deficit, or behavioural problems. In rare cases, brain, kidney or heart malformations may be present." "" + "ring chromosome 21" "Ring chromosome 21 syndrome is an autosomal anomaly characterized by variable clinical features, most commonly including growth retardation, developmental delay, intellectual disability, epilepsy, microcephaly, short stature, dysmorphic features, hypogammaglobulinemia, thrombocytopenia and unspecific skeletal anomalies (hemivertebrae, clinodactyly, syndactyly). In rare cases, it has been described in phenotypically normal individuals." "" + "ring chromosome 22" "Ring chromosome 22 is a rare condition caused by having an abnormal chromosome 22 that forms a ring. In this chromosome abnormality,a segment on the short (p) arm and a segment on the long (q) arm of 22 are missing. The amount of material lost varies from person to person. The remaining ends of chromosome 22 have joined together to make a ring shape. Chromosome 22 is an acrocentric chromosome, meaning that the centromere is near one end, creating a very small short (p) arm that does not contain genes that are relevant to development. Thus, only the lost genes on the long (q) arm matter. Knowing the breakpoint in the long arm is likely more helpful. Most cases are sporadic (happen by chance) and occur in people with no history of the condition in their family." "" + "ring chromosome 4" "Ring chromosome 4 syndrome is an autosomal anomaly characterized by variable clinical features, most commonly including significant intrauterine and postnatal growth retardation, developmental delay, intellectual disability, microcephaly, and dysmorphic facial features. Some less frequent features are cleft lip and/or cleft palate, congenital cardiovascular, gastrointestinal and genitourinary system anomalies." "" + "ring chromosome 6" "Ring chromosome 6 syndrome is a rare chromosomal anomaly syndrome with highly variable phenotype principally characterized by prenatal/postnatal growth failure, intellectual disability, developmental delay, craniofacial dysmorphism (incl. microcephaly, microphthalmia, epicanthus, low-set and malformed ears, broad and flat nasal bridge, full lips, micrognathia), central nervous system anomalies (e.g. hydrocephalus, cortical atrophy, ventriculomegaly), short neck, and delayed bone age. Cardiac defects, limb anomalies, hip joint malformations, and seizures have also been reported." "" + "ring chromosome 7" "Ring chromosome 7 syndrome is a rare chromosomal anomaly syndrome, with highly variable phenotype, principally characterized by growth failure, short stature, intellectual disability, dermatological abnormalities (nevus flammeus, dark pigmented nevi, café-au-lait spots), microcephaly and facial dysmorphism (incl. facial asymmetry, small ears, abnormal palpebral fissures, ptosis, epicanthic folds, hyper/hypotelorism). Additional reported features include convulsions, cleft lip and palate, clinodactyly, kyphoscoliosis and genital anomalies (i.e. cryptorchidism, hypospadias, micropenis)." "" + "obsolete hereditary breast and ovarian cancer syndrome" "" "true" + "chromosome 8-derived supernumerary ring/marker" "Chromosome 8-derived supernumerary ring/marker is a rare chromosomal anomaly comprising variable parts of chromosome 8. The phenotype of mosaic or non-mosaic supernumerary r(8)/mar(8) ranges from almost normal to variable degrees of minor abnormalities, and growth and mental retardation overlapping with the well-known mosaic trisomy 8 syndrome." "" + "obsolete cleidocranial dysplasia" "" "true" + "autosomal dominant coarctation of aorta" "Autosomal dominant form of aorta coarctation." "" + "atypical coarctation of aorta" "Middle aortic coarctation is a rare vascular anomaly characterized by the segmental narrowing of the abdominal and/or distal descending thoracic aorta with varying involvement of the visceral and renal arteries that commonly presents in children and young adults with early onset and refractory hypertension, abdominal angina, lower-limb claudication and that can lead to life-threatening complications associated with severe hypertension (i.e. myocardial infarction, heart failure, aortic rupture, renal insufficiency and intracranial hemorrhage). It may be due to various congenital or acquired causes, but it is most often secondary to an acquired inflammatory disease (i.e. Takayasu arteritis or giant cell arteritis)." "" + "criss-cross heart" "Criss cross heart (CCH) is a cardiac malformation where the inflow streams of the two ventricles cross due to twisting of the heart about its major axis. The clinical features depend on the particular cardiac defects associated, like simple or corrected transposition of the great arteries and ventricular septal defects." "" + "triatrial heart" "A rare congenital abnormality of the heart characterized by the presence of three atria. The right or left atrium is divided into two parts by fibromuscular tissue or a membrane. It may be associated with other heart congenital abnormalities." "" + "univentricular heart" "Univentricular heart (UVH) is a severe congenital cardiac malformation characterized by both atria related entirely or almost entirely to one functionally single ventricular chamber. The clinical manifestations include congestive heart failure, failure to thrive, cyanosis, hypoxemia and neurodevelopmental disabilities." "" + "Cogan syndrome" "Cogan syndrome (CS) is a rare autoimmune disorder of unknown origin characterized by inflammatory ocular disease (mainly interstitial keratitis) and vestibulo-auditory manifestations (mainly acute onset hearing loss, tinnitus and vertigo), in the setting of a negative work-up for syphilis, with a variable risk of developing into a systemic disease. Systemic manifestations may occur in more than 70% of cases." "" + "autoimmune vasculitis" "An autoimmune form of vasculitis." "" + "inborn error of biotin metabolism" "" + "obsolete whooping cough" "" "true" + "corpus callosum agenesis-double urinary collecting system syndrome" "" + "intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome" "Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome is characterised by a hypoplastic corpus callosum, microcephaly, severe intellectual deficit, preauricular skin tags, camptodactyly, growth retardation, and recurrent bronchopneumonia. It has been described in four patients in two families. Transmission is autosomal recessive." "" + "Epstein-Barr virus-associated carcinoma" "" + "malignant tumor of nasopharynx" "A cancer that involves the nasopharynx." "" + "obsolete adrenocortical carcinoma" "A rare, usually large (greater than 5cm), malignant epithelial tumor arising from the adrenal cortical cells. Symptoms are usually related to the excessive production of hormones, and include Cushing's syndrome and virilism in women. Common sites of metastasis include liver, lung, bone, and retroperitoneal lymph nodes. Advanced radiologic procedures have enabled the detection of small tumors, resulting in the improvement of the 5-year survival." "" "true" + "thin ribs-tubular bones-dysmorphism syndrome" "" + "craniodigital syndrome-intellectual disability syndrome" "Craniodigital syndrome - intellectual deficit is characterised by syndactyly of the fingers and toes, characteristic facies (`startled' facial expression with a small pointed nose, micrognathia, long dark eyelashes and prominent eyebrows) and intellectual deficit." "" + "craniofrontonasal dysplasia-Poland anomaly syndrome" "Cranio-fronto-nasal dysplasia - Poland anomaly is a polymalformative syndrome characterised by craniosynostosis, Poland anomaly, cranio-fronto-nasal dysplasia, and genital and breast anomalies. Less than ten cases have been described so far." "" + "cranio-osteoarthropathy" "Cranio-osteoarthropathy (COA) is a form of primary hypertrophic osteoarthropathy characterized by delayed closure of the cranial sutures and fontanels, digital clubbing, arthropathy, and periostosis." "" + "craniosynostosis, Philadelphia type" "Craniosynostosis, Philadelphia type is a form of syndromic craniosynostosis, characterized by sagittal/dolichocephalic head shape with a relatively normal facial appearance and complete soft tissue syndactyly of hand and foot. Transmission is autosomal dominant with variable expression of the hand findings, and incomplete penetrance of the sagittal craniosynostosis. Craniosynostosis, Philadelphia type has been suggested to share the same etiology as syndactyly type 1A." "" + "craniosynostosis-cataract syndrome" "" + "benign focal seizures of adolescence" "" + "adolescent-onset epilepsy syndrome" "" + "obsolete cryptococcosis" "" "true" + "cryptorchidism-arachnodactyly-intellectual disability syndrome" "Cryptorchidism-arachnodactyly-intellectual disability syndrome is a rare, multiple congenital anomalies syndrome characterized by psychomotor delay, severe intellectual deficit, severe muscle hypoplasia (with absence of subcutaneous fatty tissue), generalized contractures, craniofacial dysmorphic features (dolichocephaly, esotropia, ears of unequal size, high palate), chest and spinal deformities (i.e. sternum shifted to side, kyphoscoliosis), pulmonary anomalies (unilateral hypoplastic bronchial system), arachnodactyly, and genital abnormalities (cryptorchidism, hypospadias, testicular agenesis). Repeated respiratory tract infections and atelectasis are also associated. There have been no further descriptions in the literature since 1970." "" + "cryptosporidiosis" "Intestinal infection with organisms of the genus Cryptosporidium. It occurs in both animals and humans. Symptoms include severe diarrhea." "" + "obsolete rare head and neck malformation" "True" "true" + "pinnae fistula or cyst" "Pinnae fistula or cyst is a rare otorhinolaryngological malformation characterized by the presence of a, usually unilateral, sinus tract or cyst located in the vicinity of the auricle (most frequently identified by a small pit near the anterior margin of the first ascending portion of the helix). Typically, patients are asymptomatic and usually only present symptoms (pain, erythema, discharge from pit) in relation to infection. Renal and inner ear anomalies may be associated." "" + "submucosal cleft palate" "" + "coloboma of superior eyelid" "Coloboma of superior eyelid is a rare developmental defect during embryogenesis characterized by a typically unilateral, partial or full-thickness, variably sized defect of the superior eyelid, ranging from a small notch to complete absence of the entire lid, which is commonly triangular in shape (with base at eyelid margin) and located on the medial third of the lid. It can occur isolated, associated with other anomalies (e.g. ocular/orbital and facial), or as part of a syndrome." "" + "coloboma of inferior eyelid" "Coloboma of inferior eyelid is a rare developmental defect during embryogenesis characterized by a unilateral or bilateral, partial or full-thickness, variably sized defect of the inferior eyelid (ranging from a small notch to complete absence of the entire lid) which is usually triangular in shape (with base at eyelid margin) and located on the lateral third of the lid. It can occur isolated, associated with facial clefting or as part of a syndrome." "" + "cysticercosis" "Cysticercosis is a parasitic infectious disease characterized by cyst formation in the target tissue of Taenia solium (tapeworm) parasite larvae ingested via the feces of a human with a tapeworm (human-to-human fecal-oral transmission) leading to variable clinical manifestations in muscle, the brain, spinal cord, and eyes. Infection of muscle tissue is generally asymptomatic. Cyst development in the brain and spinal cord is known as neurocysticercosis (NCC) and may cause seizures and headache. NCC can follow a serious course and may be life-threatening. Severe cases of cysticercosis are treated with albendazole and anti-inflammatory drugs." "" + "primary hereditary glaucoma" "" + "lipoatrophy with diabetes, leukomelanodermic papules, liver steatosis, and hypertrophic cardiomyopathy" "" + "isolated dystonia" "A dystonia (disease) that is not part of a larger syndrome." "" + "obsolete pinnae and external auditory canal anomaly" "" "true" + "obsolete rare genetic hepatic disease" "Rare genetic liver disease." "True" "true" + "obsolete rare genetic urogenital disease" "True" "true" + "obsolete rare genetic endocrine disease" "A form of endocrine system disease that is both rare and inborn." "True" "true" + "symbrachydactyly of hands and feet" "Symbrachydactyly of hands and feet is a rare, non-syndromic limb reduction defect disorder characterized by unilateral or bilateral brachydactyly, cutaneous syndactyly and global hypoplasia of the hand and/or foot, with underlying muscles, tendons, ligaments and bones being affected but without other associated limb anomalies. Patients typically present short, stiff, webbed or missing fingers and/or toes which are often replaced with small stumps (nubbins) with residual nails." "" + "non-syndromic brachydactyly" "" + "obsolete rare genetic syndromic intellectual disability" "Rare genetic syndromic intellectual disability." "True" "true" + "congenital or early infantile CACH syndrome" "" + "late infantile CACH syndrome" "" + "juvenile or adult CACH syndrome" "" + "situs ambiguus" "" + "epithelioid hemangioendothelioma" "A low-grade malignant blood vessel neoplasm. It is characterized by the presence of epithelioid endothelial cells. The neoplastic cells are arranged in cords and nests, which are embedded in a myxoid to hyalinized stroma." "" + "hemangioendothelioma" "A vascular proliferation characterized by the presence of prominent endothelial cells and the formation of vascular channels. Hemangioendotheliomas may display borderline or low grade characteristics." "" + "congenital pseudoarthrosis of the limbs" "" + "cold-induced sweating syndrome - hyperthermia spectrum" "" + "" "true" + "congenital epulis" "A congenital gingival tumor that occurs along the alveolar ridge of the maxilla. It usually affects female infants. The histogenesis is unknown. Morphologically, it is characterized by the presence of large cells with eosinophilic granular cytoplasm. Complete surgical resection is curative." "" + "paroxysmal Hemicrania" "Paroxysmal hemicrania (PH) is a primary headache disorder characterized by multiple attacks of unilateral pain that occur in association with cranial autonomic symptoms. The hallmarks of this syndrome are the relative shortness of the attacks and the complete response to indomethacin therapy." "" + "trigeminal autonomic cephalalgia" "A headache disorder characterized by episodes of unilateral, short lasting pain and associated ipsilateral cranial autonomic symptoms." "" + "Langerhans cell histiocytosis" "Langerhans cell histiocytosis (LCH) is a systemic disease associated with the proliferation and accumulation (usually in granulomas) of Langerhans cells in various tissues." "" + "obsolete systemic disease with skin involvement" "" "true" + "generalized eruptive histiocytosis" "" + "benign cephalic histiocytosis" "" + "juvenile xanthogranuloma" "A benign histiocytic tumor that occurs during childhood; it is distinct from Langerhans cell histiocytosis. It is characterized by the presence of lipid-laden, foamy histiocytes and Touton-type giant cells in the dermis. The lesions usually develop during infancy. They consist of cutaneous papules and nodules (most often in the head and neck). It is sometimes associated with deep soft tissues nodules." "" + "xanthoma disseminatum" "" + "papular xanthoma" "Papular xanthoma is a form of non-Langerhans cell histiocytosis characterized by cutaneous presentation of solitary or disseminated yellow to orange-brown papular or papulonodular, noncoalescent, asymptomatic skin lesions located predominantly on the head, neck, trunk and extremities (rarely on oral mucosa), in the presence of normolipidemia. Microscopically, the lesions consist of monomorphous infiltrate of xanthomatized macrophages and numerous Touton giant cells, with scant or absent inflammatory infiltrate. It is usually not associated with systemic disease." "" + "necrobiotic xanthogranuloma" "A cutaneous necrobiotic disorder characterized by firm, yellow plaques or nodules, often in a periorbital distribution. It is often accompanied by an elevated erythrocyte sedimentation rate; leukopenia; and monoclonal gammopathy (IgG-kappa type) and systemic involvement." "" + "indeterminate dendritic cell tumor" "A very rare dendritic cell tumor composed of spindle to ovoid cells with a phenotype that is similar to the Langerhans cells. Patients usually present with cutaneous papules, nodules, and plaques. Systemic symptoms are usually absent. The clinical course is variable." "" + "progressive nodular histiocytosis" "Progressive nodular histiocytosis is a rare, normolipemic, non-Langerhans cell histiocytosis characterized by progressive growth of multiple to disseminated, asymptomatic skin lesions that range in appearance from yellow plaques to coalescence-prone red-brown papules, nodules and pedunculated tumors up to 5 cm in size, located typically on the face, trunk and extremities (and rarely on conjuctiva and mucous membranes). Characteristic microscopic findings include a storiform spindle cell infiltrate in the deep dermis with xanthomatized macrophages and some Touton cells in the upper dermis. It is usually not associated with systemic disease." "" + "hemophagocytic syndrome" "Hemophagocytic syndrome (HPS) is a rare immune disease and a potentially life-threatening disorder characterized by cytokine storm and overwhelming inflammation causing fever, hepatosplenomegaly, cytopenia, hypertriglyceridemia, hyperferritinemia, and hemophagocytosis in bone marrow, liver, spleen or lymph nodes. It can be either primary due to a genetic defect (primary hemophagocytic lymphohistiocytosis), or secondary to malignancies, to infections, most commonly with viruses such as Epstein-Barr virus or cytomegalovirus, human immunodeficiency virus, or to autoimmune disorders such as systemic lupus erythematosus or adult-onset Still disease (secondary hemophagocytic lymphohistiocytosis)." "" + "secondary hemophagocytic lymphohistiocytosis" "Hemophagocytic lymphohistiocytosis due to infections, autoimmune disorders, or underlying malignancies. Signs and symptoms include fever, lymphadenopathy, hepatomegaly, splenomegaly, and pancytopenia." "" + "obsolete hemophagocytic syndrome associated with an infection" "" "true" + "acquired hemophagocytic lymphohistiocytosis associated with malignant disease" "" + "macrophage activation syndrome" "A complication of rheumatic disease that is caused by excessive activation and uncontrolled proliferation of T lymphocytes and well-differentiated macrophages. It is characterized by fever, pancytopenia, liver insufficiency, coagulopathy and neurologic symptoms." "" + "non-distal monosomy 10q" "Non-distal monosomy 10q is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 10, with a highly variable phenotype principally characterized by developmental delays (usually of language and speech), variable cognitive impairment and neurobehavioral abnormalities such as autism spectrum disorders and attention deficit disorder. Macrocephaly and mild dysmorphic features may by associated. Overlap with other syndromes, such as Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome and juvenile polyposis syndrome has been reported." "" + "obsolete rare genetic hematologic disease" "True" "true" + "epidermolysis bullosa simplex" "Epidermolysis bullosa simplex (EBS) is a group of hereditary epidermolysis bullosa (HEB) disorders characterized by skin fragility resulting in intraepidermal blisters and erosions that occur either spontaneously or after physical trauma." "" + "acral dystrophic epidermolysis bullosa" "Acral dystrophic epidermolysis bullosa is a very rare subtype of dystrophic epidermolysis bullosa (DEB) characterized by blistering confined primarily to the hands and feet." "" + "dystrophic epidermolysis bullosa, nails only" "Dystrophic epidermolysis bullosa, nails only is a rare subtype of dystrophic epidermolysis bullosa (DEB) that shows no blistering and that is characterized by dystrophic or absent nails." "" + "typical urticaria pigmentosa" "" + "maculopapular cutaneous mastocytosis" "Maculopapular cutaneous mastocytosis (MCM) is a form of cutaneous mastocytosis (CM) characterized by the presence of multiple hyperpigmented macules, papules or nodules associated with abnormal accumulation of mast cells in the skin." "" + "plaque-form urticaria pigmentosa" "" + "nodular urticaria pigmentosa" "" + "Smouldering systemic mastocytosis" "Smouldering systemic mastocytosis is a type of systemic mastocytosis (SM). This clonal hematologic disease, with a slow progression, results in an accumulation of neoplastic mast cells in the visceral organs over time and patients present with splenomegaly, hypercellular marrow and, in some cases, urticaria pigmentosa-like skin lesions." "" + "indolent systemic mastocytosis" "Indolent systemic mastocytosis (ISM) is a benign form of systemic mastocytosis (SM) characterized by an abnormal proliferation of mast cells either only in bone marrow or in numerous tissues." "" + "isolated bone marrow mastocytosis" "" + "lymphoadenopathic mastocytosis with eosinophilia" "" + "aggressive systemic mastocytosis" "Aggressive systemic mastocytosis (ASM) is a severe and rare form of systemic mastocytosis (SM) characterized by considerable infiltration of mast cells in different tissues." "" + "obsolete classic mast cell leukemia" "" "true" + "obsolete aleukemic mast cell leukemia" "" "true" + "distal monosomy 17q" "Distal monosomy 17q is a very rare chromosomal disorder of unknown prevalence characterized by multiple craniofacial (microcephaly and eye, ear, and nose deformities), limb and other multiple organ abnormalities, growth and motor retardation and intellectual deficit. The syndrome is frequently lethal. The deletions include 17(q21.3q23), 17(q21.3q24.2), 17(q23.q24.3) and 17(q23.1q24.2)." "" + "obsolete blue cone monochromatism" "" "true" + "Castleman disease" "Castleman disease (CD) is a benign lymphoproliferative disorder that may present as a localized or multicentric form. The clinical manifestations are heterogeneous, ranging from asymptomatic discrete lymphadenopathy to recurrent episodes of diffuse lymphadenopathy with severe systemic symptoms." "" + "cap polyposis" "Cap polyposis (CP) is a rare colorectal disease characterized by multiple inflammatory polyps that predominantly affect the rectosigmoid area and that manifests primarily as rectal bleeding with abnormal transit, constipation and diarrhea." "" + "2q24 microdeletion syndrome" "2q24 microdeletion syndrome is a chromosomal anomaly consisting of a partial long arm deletion of chromosome 2 and characterized clinically by a wide range of manifestations (depending on the specific region deleted) which can include seizures, microcephaly, dysmorphic features, cleft palate, eye abnormalities (coloboma, cataract and microphthalmia), growth retardation, failure to thrive, heart defects, limb anomalies, developmental delay and autism." "" + "cataract-glaucoma syndrome" "Cataract-glaucoma syndrome is characterised by the association of total bilateral congenital cataract with the secondary occurrence of glaucoma appearing at ages varying between 10 and 40 years." "" + "isolated congenital nasal pyriform aperture stenosis" "" + "congenital nasal pyriform aperture stenosis with holoprosencephaly" "" + "isolated congenital auditory ossicle malformation" "Isolated congenital auditory ossicle malformation is a rare, congential, middle ear anomaly characterized by, usually unilateral and sporadic, variations in the number, size and/or configuration of the ossicles, with no tympanic membrane and external ear abnormalities and no history of trauma or infection. Patients frequently present late, after schooling has started, with non- progressive, conductive hearing loss often associated with speech delay and poor school performance." "" + "middle ear anomaly" "" + "deletion 5q35" "Deletion 5q35 refers to the different congenital malformation syndromes resulting from deletions of variable extent of the terminal part of the long arm of chromosome 5 (5q), spanning the region from 5q35.1 to 5q35.3 . The most significant anomaly is a recurring deletion in 5q35.2 comprising the NSD1 gene that causes Sotos syndrome that is characterized by cardinal features including excessive growth during childhood, macrocephaly, distinctive facial gestalt and various degrees of learning difficulty. Subtelomeric deletions of the terminal 3.5 Mb region on 5q35.3 are very rare, characterized by prenatal lymphedema with increased nuchal translucency, pronounced muscular hypotonia in infancy, borderline intelligence, postnatal short stature due to growth hormone deficiency, and a variety of minor anomalies such as mildly bell-shaped chest, minor congenital heart defects and a distinct facial gestalt. Larger deletions including bands 5q35.1, 5q35.2 and 5q35.3 cause a more severe phenotype that associates severe developmental delay with microcephaly, and significant cardiac defects (e.g. atrial septal defect with/without atrioventricular conduction defects, Ebstein anomaly, tetralogy of Fallot) linked to haploinsufficiency of NKX2.5 (5q35.1). Various combinations of signs may result from deletions of variable extent depending on the genes comprised in the deleted segment." "" + "subacute cutaneous lupus erythematosus" "Subacute cutaneous lupus erythematosus (SCLE) is a form of cutaneous lupus erythematosus (CLE) that can present either as a non-scarring, annular photo-distributed dermatosis or psoriasiform plaques. SCLE is associated with anti-Ro/SSA antibodies and can be drug-induced." "" + "chronic cutaneous lupus erythematosus" "Chronic cutaneous lupus erythematosus (CCLE) is a form of cutaneous lupus erythematosus (CLE) that includes five different forms: discoid lupus erythematosus (DLE), chilblain lupus, hypertrophic or verrucous lupus erythematosus, lupus erythematosus tumidus, and lupus erythematosus panniculitis." "" + "obsolete rare bacterial infectious disease" "Rare bacterial infectious disease." "True" "true" + "obsolete rare viral disease" "Rare viral disease." "True" "true" + "obsolete rare parasitic disease" "Any of the forms of parasitic infection that have a rare incidence." "True" "true" + "obsolete rare mycosis" "Rare fungal infectious disease." "True" "true" + "Hb Bart's hydrops fetalis" "Hb Bart's hydrops fetalis is the most severe form of alpha-thalassemia and is almost always lethal. It is characterized by fetal onset of generalized edema, pleural and pericardial effusions, and severe hypochromic anemia." "" + "distal monosomy 7q36" "Distal monosomy 7q36 is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 7, with a highly variable phenotype typically characterized by holoprosencephaly, growth restriction, developmental delay, facial dysmorphism (facial clefts, prominent forehead, hypertelorism, low-set ears, flat and broad nasal bridge, large mouth), abnormal fingers and palm or sole creases, ocular abnormalities, and other congenital malformations (incl. genital anomalies and caudal deficiency sequence). Cardiopathies have been occasionally reported." "" + "inborn disorder of bile acid synthesis" "Anomalies of bile acid synthesis are a group of sterol metabolism disorders due to enzyme deficiencies of bile acid synthesis (BAS) in infants, children and adults, with variable manifestations that include cholestasis, neurological disease, and fat malabsorption. Nine inborn errors have been described, 7 of which lead to liver cholestasis." "" + "obsolete rare disorder related with pregnancy, childbirth and puerperium" "Any of the forms of pregnancy disorder that have a rare incidence." "True" "true" + "2p21 microdeletion syndrome" "The 2p21 microdeletion syndrome consists of cystinuria, neonatal seizures, hypotonia, severe growth and developmental delay, facial dysmorphism, and lactic acidemia." "" + "febrile infection-related epilepsy syndrome" "Febrile infection-related epilepsy syndrome (FIRES) describes an explosive-onset, potentially fatal acute epileptic encephalopathy that develops in previously healthy children and adolescents following the onset of a non-specific febrile illness." "" + "cryptogenic late-onset epileptic spasms" "Cryptogenic late-onset epileptic spasms is a rare epilepsy syndrome characterized by late-onset (after 1 year old) epileptic spasms that ocurr in clusters, associated with tonic seizures, atypical absences and cognitive deterioration. Language difficulties and behavior problems are frequently present. EEG is characterized by a temporal, or temporofrontal, slow wave or spike focus combined with synchronous spike-waves and no hypsarrhythmia or background activity." "" + "limbic encephalitis" "Limbic encephalitis represents a group of autoimmune conditions characterized by inflammation of the limbic system and other parts of the brain.The cardinal sign of limbic encephalitis is a severe impairment of short-term memory; however,symptoms may also include confusion, psychiatric symptoms, and seizures.The symptomstypically develop over a few weeks or months, but they may evolve over a few days. Limbic encephalitis is often associated with an underlying neoplasm (paraneoplastic limbic encephalitis); however some cases never have a neoplasm identified (non-paraneoplastic limbic encephalitis). Delayed diagnosis is common, but improvements are being made to assist in early detection. Various tests including imaging studies (MRI, PET) laboratory tests (CSF analysis), and tests that measure the electrical activity of the brain (EEG) may be utilized to confirm a diagnosis. Treatment includes removal of the neoplasm (if identified) and immunotherapy." "" + "paraneoplastic limbic encephalitis" "A rare disorder characterized by degenerative changes in the limbic area of the brain. Causes include infections and autoimmune conditions; it may also manifest as a paraneoplastic syndrome, most often caused by small cell lung carcinoma. Signs and symptoms include behavioral changes, hallucinations and dementia." "" + "classic paraneoplastic limbic encephalitis" "Classic paraneoplastic limbic encephalitis is a rare neuroimmunological disorder characterized by the sudden onset of seizures, progressive memory impairment (which may develop into dementia) and psychiatric manifestations (e.g. depression, personality changes, loss of social inhibition) associated with cancer (most commonly small-cell carcinoma of the lung) in the absence of tumor cell invasion of the nervous system. Other reported features include ataxia, dystonia, paresthesia, tremors, paranoid ideation, and hallucinations. The presence of antibodies that act on neuronal antigens (such as anti-Hu, anti-Ma2, anti-amphiphysin) are typically observed." "" + "limbic encephalitis associated with antibodies to cell membrane antigens" "" + "limbic encephalitis with LGI1 antibodies" "Limbic encephalitis with LGI1 antibodies is a rare neuroimmunological disorder characterized by the onset of cognitive decline, psychiatric disturbances and seizures (distinctively faciobrachial dystonic seizures) in association with detection of LGI1 antibodies in serum or cerebrospinal fluid. Patients may present with confusion, hallucinations, vocalization, paranoia, tangentiality, aggressive outbursts and/or spatial disorientation, as well as obstinate hyponatremia. It is most often non-paraneoplastic, however comorbid tumors, such as small cell lung cancer and thymoma, have been reported." "" + "non-paraneoplastic limbic encephalitis" "" + "limbic encephalitis with nCMAgs antibodies" "" + "posttransplant acute limbic encephalitis" "Posttransplant acute limbic encephalitis is a rare, acquired, non-paraneoplastic limbic encephalitis disorder, that develops in the setting of treatment-related immunosuppression, typically after allogeneic hemapoietic stem cell transplantation, characterized by onset of confusion, headache, anterograde amnesia, seizures and/or loss of consciousness 2-6 weeks following transplantation. Bilateral, non-enhancing T2 hyperintensities in limbic structures are observed on magnetic resonance imaging. Mild cerebrospinal fluid pleocytosis and syndrome of inappropriate antidiuretic hormone secretion may also be associated." "" + "non-herpetic acute limbic encephalitis" "Non-herpetic acute limbic encephalitis is a rare neuroinflammatory/neuroautoimmune disease characterized by an acute (or subacute) onset of disturbance of consciousness (occasionally presenting as convulsions) and high fever, associated with cerebral lesions (on magnetic resonance imaging) that are restricted to the limbic system (particularly the hippocampi and amygdalae), in the absence of viral, bacterial, fungal, paraneoplastic and other disorders." "" + "pustulosis palmaris et plantaris" "" + "obsolete acrodermatitis continua suppurativa of Hallopeau" "" "true" + "atopic keratoconjunctivitis" "Atopic keratoconjunctivitis is a rare and chronic allergic disease of the cornea and conjunctiva occurring in all age groups characterized by severe itching and burning sensation, conjunctival injection, photophobia and edema with serious cases leading to ulceration of the cornea which can result in blindness. It is often associated with atopic dermatitis." "" + "X-linked intellectual disability, Cilliers type" "X-linked intellectual deficit, Cilliers type is characterized by mild intellectual deficit associated with short stature, hypergonadotropic hypogonadism, microcephaly and mild facial dysmorphism (deep-set eyes, prominent supraorbital ridges, a high nasal bridge and large ears)." "" + "X-linked intellectual disability, van Esch type" "X-linked intellectual deficit, Van Esch type is characterized by mild to moderate intellectual deficit associated with low birth weight, short stature, microcephaly and variable hypergonadotropic hypogonadism." "" + "obsolete developmental delay-deafness syndrome, Hildebrand type" "" "true" + "obsolete rare odontal or periodontal disorder" "True" "true" + "distal monosomy 9p" "Distal monosomy 9p is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the short arm of chromosome 9, with a highly variable phenotype typically characterized by intellectual disability, craniofacial dysmorphism (trigonocephaly, upslanting palpebral fissures, hypoplastic supraorbital ridges), abnormal digits (long middle phalanges with short distal phalanges), as well as frequent association with genitourinary abnormalities (cryptorchidism, hypospadias, ambiguous genitalia, 46,XY testicular dysgenesis). Congenital hypothyroidism and cardiovascular defects have been reported in some cases. Patients present an increased risk for gonadoblastoma." "" + "Xp22.3 microdeletion syndrome" "Xp22.3 microdeletion syndrome is a microdeletion syndrome resulting from a partial deletion of the chromosome X. Phenotype is highly variable (depending on length of deletion), but is mainly characterized by X linked ichthyosis, mild-moderate intellectual deficit, Kallmann syndrome, short stature, chondrodysplasia punctata and ocular albinism. Epilepsy, attention deficit-hyperactivity disorder, autism and difficulties with social communication can be associated." "" + "male infertility with spermatogenesis disorder" "True" + "chromosome Y structural anomaly" "" + "acute myeloid leukemia and myelodysplastic syndromes related to radiation" "Acute myeloid leukemia and myelodysplastic syndromes related to radiation represent a subgroup of therapy-related myeloid neoplasms (t-MN), associated with treatment of an unrelated neoplastic disease with radiation. The neoplastic cells typically harbor unbalanced aberrations of chromosomes 5 and 7 (monosomy 5/del(5q) and monosomy 7/del(7q)) or a complex karyotype. Patients frequently present with multilineage dysplasia and cytopenias 5-10 years after exposure." "" + "circadian rhythm sleep disorder" "A persistent or recurrent pattern of sleep disruption that is primarily due to an alteration of the circadian system or to a misalignment between the endogenous circadian rhythm and the sleep-wake schedule required by an individual's physical environment or social or professional schedule.(DSM IV)" "" + "hereditary dentin defect" "The hereditary dentin disorders, dentinogenesis imperfecta (DGI) and dentin dysplasia (DD), comprise a group of conditions characterized by abnormal dentin structure affecting either the primary or both the primary and secondary dentitions." "" + "obsolete rare genetic gastroenterological disease" "True" "true" + "obsolete rare genetic intestinal disease" "True" "true" + "obsolete genetic pancreatic disease" "" "true" + "non-syndromic urogenital tract malformation" "A urogenital tract malformation that is not part of a larger syndrome." "" + "urogenital tract malformation" "" + "obsolete rare abdominal surgical disease" "True" "true" + "wound myiasis" "" + "cutaneous myiasis" "" + "cavitary myiasis" "Cavitary myiasis is a rare parasitic disease characterized by the infestation of natural body cavities (e.g. aural, nasal, oral, urogenital myiasis) and internal organs (e.g. cerebral myiasis, ophthalmomyiasis, intestinal and tracheopulmonary myiasis) with dipteran larvae. Clinical presentation is variable depending on the affected site(s) and degree of infestation and include foreign-body sensation (with or without movement sensation), hemorrhage, pain, edema, sensory loss, malodor, and pruritus, among others. Neurological features (e.g. motor deficits, seizures, reduced mental status, extrapyramidal signs) have been reported in cerebral myiasis." "" + "diazoxide-resistant diffuse hyperinsulinism" "Diazoxide-resistant diffuse hyperinsulism (DRDH) is a form of Diazoxide resistant hyperinsulinism characterized by recurrent episodes of profound hypoglycemia caused by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) due to diffuse involvement of pancreas that is unresponsive to medical treatment with diazoxide, often necessitating near total/total pancreatectomy." "" + "diazoxide-resistant hyperinsulinism" "Diazoxide-resistant hyperinsulism (DRH) is form of congenital isolated hyperinsulism caused by an abnormal insulin production by B-cells in the pancreas that can be diffuse or focal and is characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia), recurrent episodes of profound hypoglycemia and resistance to medical management with diazoxide." "" + "von Willebrand disease type 2A" "Type 2A von Willebrand disease (type 2A VWD) is a subtype of type 2 VWD characterized by a bleeding disorder associated with a decrease in the affinity of the Willebrand factor (von Willebrand factor; VWF) for platelets and the subendothelium caused by a deficiency of high molecular weight VWF multimers." "" + "von Willebrand disease type 2B" "Type 2B von Willebrand disease (type 2B VWD) is a subtype of type 2 VWD characterized by a bleeding disorder associated with an increase in the affinity of the Willebrand factor (von Willebrand factor; VWF) for platelets. This anomaly results in spontaneous binding of high molecular weight VWF multimers to platelets leading to rapid clearance of both the platelets (increasing the risk of thrombocytopenia) and the high molecular weight VWF multimers from the plasma." "" + "von Willebrand disease type 2M" "Type 2M von Willebrand disease (type 2M VWD) is a subtype of type 2 VWD characterized by a bleeding disorder associated with a decrease in the affinity of the Willebrand factor (von Willebrand factor; VWF) for platelets and the subendothelium in the absence of any deficiency of high molecular weight VWF multimers." "" + "von Willebrand disease type 2N" "Type 2N von Willebrand disease (type 2N VWD) is a subtype of type 2 VWD characterized by a bleeding disorder associated with a marked decrease in the affinity of the Willebrand factor (von Willebrand factor; VWF) for factor VIII (FVIII)." "" + "FASTKD2-related infantile mitochondrial encephalomyopathy" "" + "obsolete Bazex syndrome" "" "true" + "isolated osteopoikilosis" "A osteopoikilosis (disease) that is not part of a larger syndrome." "" + "porokeratotic eccrine ostial and dermal duct nevus" "A rare, congenital disorder of the eccrine sweat ducts that presents as grouped keratotic papules and plaques with a linear distribution and/or multiple punctate pits filled with tiny keratotic plugs resembling comedones. The lesion are usually located on the acral portion of a limb." "" + "benign eccrine neoplasm" "A non-metastasizing eccrine appendage sweat gland neoplasm. Representative examples include hidrocystoma, syringoma, and syringofibroadenoma." "" + "eccrine sweat gland hamartoma" "A hamartoma characterized by localized eccrine sweat gland malformation." "" + "dirofilariasis" "Infection with nematodes of the genus dirofilaria, usually in animals, especially dogs, but occasionally in humans." "" + "benign non-familial infantile seizures" "" + "benign partial epilepsy of infancy with complex partial seizures" "Benign partial epilepsy of infancy with complex partial seizures is a rare infantile epilepsy syndrome characterized by complex partial seizures presenting with motion arrest, decreased responsiveness, staring, automatisms and mild clonic movements, with or without apneas, normal interictal EEG and focal, mostly temporal discharges in ictal EEG. Most often, seizures occur in clusters and have a good response to treatment. Psychomotor development is normal." "" + "benign partial epilepsy with secondarily generalized seizures in infancy" "Benign partial epilepsy with secondarily generalized seizures in infancy is a rare infantile epilepsy syndrome characterized by seizures presenting with motion arrest and staring. They are followed by generalized tonic-clonic convulsions with normal interictal EEG and focal paroxysmal discharges, followed by generalization in ictal EEG. Seizures usually occur in clusters and are responsive to treatment. Psychomotor development is normal." "" + "benign infantile seizures associated with mild gastroenteritis" "Benign infantile seizures associated with mild gastroenteritis is a rare infantile epilepsy syndrome characterized by benign afebrile seizures in previously healthy infants and children (age range 1 month to 6 years) with mild acute gastroenteritis without any central nervous system infection, severe dehydration, or electrolyte imbalances. In most cases the seizures are tonic-clonic with focal origin on EEG, occur between day 1 and 6 following onset of acute gastroenteritis, cease within 24 hours and do not persist after the illness." "" + "benign infantile focal epilepsy with midline spikes and wave during sleep" "Benign infantile focal epilepsy with midline spikes and waves during sleep is a rare infantile epilepsy syndrome characterized by age of onset between 4 and 30 months, partial sporadic seizures presenting with motion arrest, staring, cyanosis and, less common, automatisms and lateralizing signs, and characteristic interictal sleep EEG changes consisting of a spike followed by a bell-shaped slow wave in the midline region." "" + "audiogenic seizures" "Audiogenic seizures is a rare neurologic disease characterized by seizures that are triggered by acoustic stimulation, which can be simple (as in startle epilepsy) or complex (e.g. musicogenic seizures, seizures triggered by the voice)." "" + "eating seizures" "" + "orgasm-induced seizures" "Orgasm-induced seizures is a rare neurologic disease characterized by complex partial seizures with or without secondary generalization, or idiopathic primarily generalized epilepsy, triggered by sexual orgasm. Seizures usually start immediately, shortly after or a few hours after the achievement of orgasm, last a few seconds or minutes, and are followed, in very rare cases, by intense migraine." "" + "thinking seizures" "Thinking seizures is a rare neurologic disease characterized by seizures induced by specific cognitive tasks, such as calculation or solving arithmetic problems (e.g Sudoku puzzle), playing thinking games (e.g. Rubik's cube, chess, cards), thinking, making decisions and abstract reasoning. Idiopathic generalized seizures are mainly involved, but partial epilepsies may, in rare cases, be observed." "" + "startle epilepsy" "Startle epilepsy is a rare neurologic disease characterized by frequent and spontaneous epileptic seizures (frequently with symmetrical or asymmetrical tonic features) triggered by a normal startle in response to a sudden and unexpected somatosensory (most frequently auditory) stimulus. Falls are common and can be traumatic. In most cases, the disease is associated with spastic hemi-, di-, or tetraplegia and intellectual disability." "" + "micturation-induced seizures" "Micturition-induced seizures is a rare neurologic disease characterized by tonic posturing or clonic movements triggered by micturition, with bilateral or unilateral involvement of the extremities and with or without loss of consciousness. Developmental delay is reported in some cases." "" + "obsolete rare genetic epilepsy" "A form of epilepsy that is both rare and inborn." "True" "true" + "idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes" "True" + "cerebral malformation" "" + "dextrocardia" "A rare congenital abnormality in which the heart is located in the right side of the chest. It is associated with other congenital heart defects." "" + "obsolete hemorrhagic disorder due to an acquired coagulation factor defect" "True" "true" + "diencephalic syndrome" "Diencephalic syndrome (DS) is a rare condition characterized by profound emaciation and failure to thrive (with normal caloric intake and normal linear growth), hyperalertness, hyperkinesias and euphoria, in the presence of hypothalamic tumors." "" + "idiopathic pulmonary artery dilatation" "Idiopathic pulmonary artery dilatation is a rare developmental defect during embryogenesis characterized by the dilatation of the main pulmonary artery, with or without dilatation of the right and left pulmonary artery branches, and not attributed to any other cardiac, pulmonary and/or arterial wall disease. It may present with exertional dyspnea, fatigue, cough, hemoptysis, palpitation and chest pain, but may also be asymptomatic. In serious cases, trachea constriction due to postural changes may lead to attacks of cyanosis with severe dyspnea. Sudden cardiac death has been reported in some cases." "" + "scleromyxedema" "Scleromyxedema is a rare, severe skin disorder. Signs and symptoms include abnormal accumulation of mucin in the skin (mucinosis), causing papular and sclerodermoid bumps; increased production of fibroblasts (connective tissue cells) in the absence of a thyroid disorder; and monoclonal gammopathy (abnormal proteins in the blood). It often involves internal organs and may affect various body systems. The cause of scleromyxedema is not known. There is no standard treatment. Management may involve the use of intravenous immunoglobulin (IVIG), plasmapheresis, thalidomide and corticoids, or more aggressive interventions, such as autologous bone marrow transplantation." "" + "lichen myxedematosus" "" + "familial idiopathic dilatation of the right atrium" "Idiopathic dilatation of the right atrium (IDRA) is a rare congenital heart malformation of unknown etiology that is characterized by an extremely dilated right atrium, and that is usually asymptomatic and fortuitously discovered by echocardiography or chest radiography, and can be sometimes associated with other anomalies such as atrial arrhythmias (e.g. atrial flutter, atrial fibrillation, supraventricular tachycardia), severe tricuspid regurgitation, or atrial thrombus that could lead to potentially life-threatening thromboembolic complications." "" + "obsolete rare disease with dentinogenesis imperfecta" "True" "true" + "obsolete cardiomyopathy" "" "true" + "obsolete diphtheria" "" "true" + "diprosopus" "Diprosopus is a rare, life-threatening developmental defect during embryogenesis, and a subtype of conjoined twins, characterized by partial or complete duplication of the facial structures on a single head, neck, trunk and body. It may be associated with congenital anomalies involving the central nervous, cardiovascular, gastrointestinal and respiratory systems. Cleft lip and palate have been reported in rare cases." "" + "lethal multiple congenital anomalies/dysmorphic syndrome" "" + "obsolete rare cardiac tumor" "Any of the forms of heart neoplasm that have a rare incidence." "True" "true" + "distomatosis" "Distomatosis is a group of parasitoses caused by flat worms that live in contact with epitheliums. Clinical classification depends on the organ infected by the adult parasite: liver, lungs, or intestines." "" + "obsolete hyperandrogenism due to cortisone reductase deficiency" "" "true" + "cardiac diverticulum" "Congenital cardiac diverticulum (CCD) is a very rare congenital malformation characterized by a muscular appendix emerging from the left ventricular apex, rarely from the right ventricle or from both chambers, with clinical manifestations ranging from asymptomatic to life-threatening hemodynamic collapse." "" + "dysplasia of head of femur, Meyer type" "Meyer dysplasia of the femoral head is a mild localized form of skeletal dysplasia characterized by delayed, irregular ossification of femoral capital epiphysis." "" + "obsolete rare pervasive developmental disorder" "Rare pervasive developmental disorder." "True" "true" + "childhood disintegrative disorder" "Childhood disintergrative disorder is a rare pervasive developmental disorder with a disease onset before the age of three and characterized by a dramatic loss of behavioral and developmental functioning after atleast two years of normal development. Manifestations of the disease include loss of speech, incontinence, communication and social interaction problems, stereotypical autistic behaviors and dementia." "" + "obsolete malignant peritoneal mesothelioma" "" "true" + "obsolete peritoneal cystic mesothelioma" "" "true" + "chronic eosinophilic leukemia" "" + "myeloid hemopathy" "" + "myeloid neoplasm associated with PDGFRA rearrangement" "A rare, malignant, neoplastic disease characterized by clonal proliferation of myeloid and/or lymphoid precursors harboring rearrangements in the PDGFRA gene, in the blood, bone marrow and often other tissues as well (spleen, lymph nodes, skin, etc.). It usually presents as chronic eosinophilic leukemia or, less commonly, as acute myeloid leukemia or T-lymphoblastic leukemia with eosinophilia. Patients usually present with eosinophilia, anemia, thrombocytopenia, neutrophilia, splenomegaly, lymphadenopathy, fever, sweating and/or weight loss. Tissue infiltration by eosinophils can manifest with skin rash, erythema, cough, neurological alterations, gastrointestinal symptoms or, rarely, endomyocardial fibrosis and restrictive cardiomyopathy." "" + "myeloid neoplasm associated with PDGFRB rearrangement" "A rare, malignant, neoplastic disease characterized by clonal proliferation of myeloid and/or lymphoid precursors harboring rearrangements in the PDGFRB gene, in the blood, bone marrow and often other tissues as well (spleen, lymph nodes, skin, etc.). It usually presents as chronic myelomonocytic leukemia with eosinophilia, chronic eosinophilic leukemia, atypical chronic myelogenous leukemia, juvenile myelomonocytic leukemia, myelodysplastic syndrome, acute myeloid leukemia or acute lymphoblastic leukemia. Patients usually present with anemia, leukocytosis, monocytosis, eosinophilia and/or splenomegaly, or systemic symptoms, such as fever, sweating and/or weight loss." "" + "eosinophil disease" "A disease or disorder that involves the eosinophil." "" + "refractory anemia with excess blasts in transformation" "Refractory anemia with excess blasts in transformation (RAEB-T) is characterised by dysplastic features of the myeloid and usually erythroid progenitor cells in the bone marrow and an increased number of myeloblasts in the peripheral blood. The peripheral blood blast count ranges from 20% to 30%. RAEB-T used to be a subcategory of myelodysplastic syndromes in the past. Recently, the term has been eliminated from the WHO based classification of myelodysplastic syndromes. The reason is that the percentage of peripheral blood blasts required for the diagnosis of acute myeloid leukemia has been reduced to 20%. The elimination of the RAEB-T term by the WHO experts has created confusion and ongoing arguments. Currently, according to WHO classification, the vast majority of RAEB-T cases are best classified as acute leukemias (acute leukemias with multilineage dysplasia following myelodysplastic syndrome). A minority of cases are part of RAEB-2." "" + "obsolete composite lymphoma" "" "true" + "malignant melanoma of the mucosa" "A melanoma (disease) that involves the mucosa." "" + "Good syndrome" "Good syndrome, also known as thymoma-immunodeficiency, is a very rare acquired immunodeficiency syndrome characterized by the association of thymoma and combined B-cell and T-cell immunodeficiency of adult onset with increased susceptibility to infections." "" + "acquired immunodeficiency" "" + "transient hypogammaglobulinemia of infancy" "A rare, primary humoral immunodeficiency of childhood characterized by decreasing serum levels of immunoglobulin G (IgG) as maternal antibodies clear the circulation while serum levels of immunoglobulin A and immunoglobulin M remain normal or are slightly decreased. Diagnosis may be suspected after the age of six months when a child's own synthesis of IgG should accelerate but it must be confirmed retrospectively after normalization of all serum immunoglobulin levels is seen by ages 2-6. This disorder may be caused by inadequate activation of progenitor B cells, defective class-switching or may even represent a maturational variant. Typically, a normal response to protein antigens is found while there is a notably diminished response to viral and bacterial polysaccharide antigens. Clinical presentation may include recurrent infections especially those of the respiratory tract. Despite increased susceptibility to infection in childhood, this disorder is self-limited with minimal implications for a normal life span." "" + "T-B+ severe combined immunodeficiency due to CD45 deficiency" "" + "mosaic trisomy 1" "" + "obsolete DNA repair defect other than combined T-cell and B-cell immunodeficiencies" "" "true" + "specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells" "True" + "non-distal trisomy 10q" "Non-distal trisomy 10q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 10, characterized by mild to moderate developmental delay, postnatal growth retardation, central hypotonia, craniofacial dysmorphism (incl. microcephaly, prominent forehead, flat, thick ear helices, deep-set, small eyes, epicanthus, upturned nose, bow-shaped mouth, highly arched palate, micrognathia), ocular anomalies (e.g. iris coloboma, retinal dysplasia, strabismus), long, slender limbs and skeletal and digital anomalies (scoliosis, poly/syndactyly). Additional features reported include cardiac defects (e.g. septal ventricular defect), anal atresia, and cryptorchidism." "" + "idiopathic central precocious puberty" "" + "secondary central precocious puberty" "" + "severe hemophilia B" "Severe hemophilia B is a form of hemophilia B characterized by a large deficiency of factor IX leading to frequent spontaneous hemorrhage and abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction." "" + "moderately severe hemophilia B" "Moderately severe hemophilia B is a form of hemophilia B characterized by factor IX deficiency leading to abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction." "" + "mild hemophilia B" "Mild hemophilia B is a form of hemophilia B characterized by a small deficiency of factor IX leading to abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction." "" + "mosaic trisomy 12" "Mosaic trisomy 12 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, principally characterized by developmental or growth delay, short stature, craniofacial dysmorphism (e.g. turricephaly, tall forehead, downslanting palpebral fissures, posteriorly rotated and low set ears, narrow palate), congenital heart defects (e.g. atrial septal defect, patent ductus arteriosus), hypotonia, and pigmentary dysplasia. Scoliosis, hearing loss, facial/body asymmetry, and intellectual disability have also been reported." "" + "severe hemophilia A" "Severe hemophilia A is a form of hemophilia A characterized by a large deficiency of factor VIII leading to frequent spontaneous hemorrhage and abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction." "" + "moderately severe hemophilia A" "Moderately severe hemophilia A is a form of hemophilia A characterized by factor VIII deficiency leading to abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction." "" + "mild hemophilia A" "Mild hemophilia A is a form of hemophilia A characterized by a small deficiency of factor VIII leading to abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction." "" + "trisomy 12p" "Trisomy 12p is an extremely rare chromosomal disorder (over 30 cases reported worldwide) characterized by craniofacial malformations (round face, prominent cheeks, high bulging forehead, broad and flat nasal bridge, short nose with anteverted nostrils, long philtrum, prominent and everted lower lip, low-set ears, abnormally folded helix, protuberant antihelix), postnatal growth retardation, mental and psychomotor retardation, generalized hypotonia, abnormally short wide hands and/or other abnormalities." "" + "non-distal trisomy 13q" "Non-distal trisomy 13q is a rare chromosomal anomaly disorder, resulting from the partial duplication of the proximal long arm of chromosome 13, with a highly variable phenotype principally characterized by increased polymorphonuclear leucocyte projections and persistence of fetal hemoglobin, as well as growth and developmental delay and craniofacial dysmorphism (incl. microcephaly, depressed nasal bridge, stubby nose, low-set, malformed ears, cleft lip/palate, micrognathia). Strabismus, clinodactyly and undescended testes in males may also be associated." "" + "partial duplication of the long arm of chromosome 13" "Chromosome 13q duplication is a chromosome abnormality that occurs when there is an extra(duplicated) copy of genetic material on the long arm (q) of chromosome 13." "" + "chromosome 13q trisomy" "" + "mosaic trisomy 14" "Mosaic trisomy 14 is a rare chromosomal disorder in which there are 3 copies (trisomy) of chromosome 14 in some cells of the body, while other cells have the usual two copies. The extent and severity of features in affected individuals can vary. Signs and symptoms that have been most commonly reported include intrauterine growth restriction ; failure to to thrive ; developmental delay; intellectual disability; distinctive facial characteristics; structural malformations of the heart; and other physical abnormalities. This condition is most often caused by an error in cell division in the egg or sperm cell before conception, or in fetal cells after fertilization. Treatment is directed toward the specific signs and symptoms in each individual." "" + "distal trisomy 14q" "" + "mosaic trisomy 15" "Mosaic trisomy 15 is a rare chromosomal anomaly syndrome principally characterized by intrauterine growth restriction, congenital cardiac anomalies (incl. ventricular and atrial septal defects, patent ductus arteriosus) and craniofacial dysmorphism (incl. hypertelorism, downslanting palpebral fissures, wide nasal bridge). Patients also present brain (e.g. hypoplastic cerebellum, ventricular asymmetry), renal (e.g. small dysplastic kidneys), and/or genital (undescended testis, small penis, hypoplastic labia majora) anomalies. Digital and skin pigmentation abnormalities have also been reported." "" + "distal trisomy 15q" "" + "mosaic trisomy 16" "Mosaic trisomy 16 is a rare chromosomal anomaly syndrome with a highly variable phenotype ranging from minor anomalies with normal development to intrauterine growth retardation, abnormal skin pigmentation, craniofacial and body asymmetry, cardiac (e.g. ventricular septal defect) and genital (e.g. hypospadias, cryptorchidism) anomalies, scoliosis and hearing loss to neonatal death. Additional features observed include skeletal malformations (e.g. clino/polydactyly, talipes), mild facial dysmorphism, and developmental delay." "" + "chromosome 16 trisomy" "" + "mosaic trisomy 17" "Mosaic trisomy 17 is a rare chromosomal anomaly syndrome, with a highly variable clinical presentation, mostly characterized by growth delay, intellectual disability, body asymmetry with leg length differentiation, scoliosis, and congenital heart anomalies (e.g. ventricular septal defect). Prenatal ultrasound findings include intrauterine growth retardation, nuchal thickening brain anomalies (e.g. cerebellar hypoplasia), pleural effusion and single umbilical artery. Patients with no associated malformations have also been reported." "" + "high anorectal malformation" "High anorectal malformation is a rare, genetic, non-syndromic subtype of anorectal malformation, resulting from a developmental defect during embryogenesis, characterized by a wide spectrum of anorectal anomalies, with or without a rectourogenital fistula, located above the pubococcygeal line (i.e. anorectal agenesis, rectal agenesis, atresia, or stenosis). Patients may present with meconuria, pyuria, strangury, and fecal and urinary incontinence." "" + "intermediate anorectal malformation" "Intermediate anorectal malformation is a rare, genetic, non-syndromic subtype of anorectal malformation, resulting from a developmental defect during embryogenesis, characterized by a wide spectrum of anorectal anomalies lying between the pubococcygeal line and the ischial tuberosity (e.g., rectovestibular and rectovaginal fistulas in the female, rectobulbar fistula in the male, and anal agenesis). Patients may present with failure to pass meconium, failure to thrive, and recurrent urinary tract infections." "" + "low anorectal malformation" "Low anorectal malformation is a rare, genetic, non-syndromic subtype of anorectal malformation, resulting from a developmental defect during embryogenesis, characterized by a wide spectrum of anorectal anomalies lying below the ischial tuberosity (e.g., anovestibular fistula in female, perineal and anocutaneous fistulas, and anal stenosis). Patients may present with failure to pass meconium, failure to thrive, and chronic constipation." "" + "rectal duplication" "Rectal duplication is a rare congenital anorectal malformation characterized by an egg-like, cystic, mucus-filled mass, composed of intestinal mucosal lining and smooth muscle tissue. Commonly they present in childhood with symptoms of recurrent urinary tract infections, gastroenteritis, obstruction, perianal sepsis and rectal bleeding. Drainage of mucus or pus from the anus is also a typical presenting sign. The majority are found in the retro-rectal space where they communicate with, or are contiguous to, the rectum." "" + "qualitative or quantitative defects of nebulin" "" + "adult-onset nemaline myopathy" "Adult-onset nemaline myopathy is a rapidly progressive type of nemaline myopathy (NM) characterized by a very late onset." "" + "trisomy 18p" "Trisomy 18p is an extremely rare chromosomal anomaly with a poorly defined clinical phenotype. Reported manifestations include short stature, mild, moderate or severe developmental delay and intellectual disability, variable but mild facial dysmorphism, and epilepsy." "" + "distal trisomy 18q" "" + "partial trisomy of the long arm of chromosome 18" "" + "periventricular leukomalacia" "Periventricular leukomalacia (PVL) is a brain injury disorder characterized by the death of the white matter of the brain due to softening of the brain tissue. It can affect fetuses or newborns, and premature babies are at the greatest risk of the disorder. PVL is caused by a lack of oxygen or blood flow to thearea around the ventricles of the brain, which results in the death of brain tissue. Although babies with PVL generally have no apparent signs or symptoms of the disorder at delivery, they are at risk for motor disorders, cerebral palsy, delayed mental development, coordination problems, and vision and hearing impairments. There is no cure for PVL. Treatment is generally supportive. Prognosis is dependent on the extent of damage to the ventricles." "" + "idiopathic bilateral vestibulopathy" "Idiopathic bilateral vestibulopathy is a rare otorhinolaryngologic disease characterized by dysfunction of both peripheral labyrinths or of the eighth nerves, which presents with persistent unsteadiness of gait (particularly in darkness, during eye closure or under impaired visual conditions, or when standing/walking on uneven, soft or wobbly ground) and oscillopsia associated with head movements. The disease may be progressive, presenting no episodes of vertigo, or sequential, presenting recurrent episodes of vertigo." "" + "distal trisomy 19q" "Distal trisomy 19q is a rare chromosomal anomaly syndrome characterized by low birth weight, developmental delay, intellectual disability, short stature, craniofacial dysmorphism (incl. microcephaly, midface hypoplasia, hypertelorism, flat nasal bridge, ear anomalies, short philtrum, downturned corners of the mouth, micrognathia) and a short neck with redundant skin folds. Additional features may include hypotonia, skeletal anomalies (e.g. clino/camptodactyly), seizures and congenital cardiac, urogenital and gastrointestinal malformations." "" + "partial duplication of the long arm of chromosome 19" "" + "microcephaly-polymicrogyria-corpus callosum agenesis syndrome" "Microcephaly-polymicrogyria-corpus callosum agenesis syndrome is a rare, genetic, central nervous system malformation syndrome characterized by marked prenatal-onset microcephaly, severe motor delay with hypotonia, bilateral polymicrogyria, corpus callosum agenesis, ventricular dilation, small cerebellum and early lethality." "" + "obsolete Amish infantile epilepsy syndrome" "" "true" + "6q16 deletion syndrome" "Deletion 6q16 syndrome is a Prader-Willi like syndrome characterized by obesity, hyperphagia, hypotonia, small hands and feet, eye/vision anomalies, and global developmental delay." "" + "Prader-Willi-like syndrome" "Prader-Willi-like syndrome is a rare, genetic, endocrine disease characterized by manifestations of a Prader-Willi syndrome phenotype (including obesity, hyperphagia, hypotonia, psychomotor delay, intellectual disability, small hands/feet, hypogonadism, growth hormone deficiency and characteristic facial features) ocurring in the absence of 15q11-q13 genomic abnormalities." "" + "obsolete amelogenesis imperfecta-gingival hyperplasia syndrome" "" "true" + "craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome" "Capra-DeMarco syndrome is characterized by sagittal craniosynostosis, hydrocephalus, Chiari I malformation and radioulnar synostosis. Other clinical findings include blepharophimosis, small low-set ears, hypoplastic philtrum, kidney malformation, and hypogenitalism." "" + "intellectual disability-cataracts-kyphosis syndrome" "This syndrome is characterized by severe intellectual deficit, kyphosis with onset in childhood and cataract with onset in late adolescence." "" + "cap myopathy" "Cap myopathy is a very rare congenital myopathy presenting a weakness of facial and respiratory muscles associated with craniofacial and thoracic deformities, as well as weakness of limb proximal and distal muscles. Onset is at birth or in childhood, weakness progression is slow but may lead to a severe and even fatal prognosis." "" + "obsolete cylindrical spirals myopathy" "" "true" + "myopathy with hexagonally cross-linked tubular arrays" "Myopathy with hexagonally cross-linked tubular arrays is a rare, congenital, non-dystrophic, mild, slowly progressive, proximal myopathy characterized by exercise intolerance and post-exercise myalgia without rhabdomyolysis, associated with highly organized hexagonally cross-linked tubular arrays in skeletal muscle biopsy. Additional features may include muscle atrophy (or diffuse hypotrophy), myalgia with or without musclar weakness, paresis of truncal and limb-girdle musculature, minimal ptosis, lumbar hyperlordosis, decreased deep tendon reflexes, contractures and pes equinovarus." "" + "primary cutaneous T-cell lymphoma" "" + "trisomy 10p" "Trisomy 10p is a syndrome of mental retardation/multiple congenital malformations (MR-MCA) that is caused by the total or partial duplication of the short arm of chromosome 10." "" + "partial duplication of the short arm of chromosome 10" "" + "mosaic trisomy 2" "Mosaic trisomy 2 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, principally characterized by intrauterine growth restriction, growth and motor delay, craniofacial dysmorphism (e.g. microcephaly, hypertelorism, micro/anophthalmia, midface hypoplasia, cleft lip/palate), congenital heart and neural tube defects, as well as various skeletal (e.g. scoliosis, radioulnar hypoplasia, preaxial polydactyly) and gastrointestinal (e.g. intestinal malrotation, Hirschsprung disease) anomalies. Central nervous system malformations (including ventriculomegaly, thin corpus callosum, spina bifida) have also been reported." "" + "mosaic trisomy 20" "Mosaic trisomy 20 is a rare chromosomal anomaly syndrome with a highly variable phenotype ranging from normal (in the majority of cases) to a mild, subtle phenotype principally characterized by spinal abnormalities (i.e. stenosis, vertebral fusion, and kyphosis), hypotonia, lifelong constipation, sloped shoulders, skin pigmentation abnormalities (i.e. linear and whorled nevoid hypermelanosis) and significant learning disabilities despite normal intelligence. More severe phenotypes, with patients presenting psychomotor and speech delay, mild facial dysmorphism, cardiac (i.e. ventricular septal defect, dysplastic tricuspid mitral valve) and renal anomalies (e.g. horseshoe kidneys), have also been reported." "" + "chromosome 20 trisomy" "Chromosome 20 trisomy, (also called trisomy 20) is a condition in which a fetus or individual has an extra full or partial copy of chromosome 20 in some or allof of his/her cells. An extra full copy of chromosome 20 in all of a person's cells is rare, and almost all fetuses with this do not survive past the first trimester ofpregnancy. The presence of an extra copyof only part of chromosome 20 is called partial trisomy 20; and an extra copy of chromosome 20 in only some of a person's cells is called mosaic trisomy 20. Mosaic trisomy 20 is the most common type of chromosome 20 trisomy and is one of the more common chromosomal abnormalities found during prenatal diagnostic testing. Studies have shown that the child is normal in the vast majority of prenatally diagnosed individuals. However, features that have been reported include spinal abnormalities (including spinal stenosis, vertebral fusion, and kyphosis), hypotonia (decreased muscle tone), life long constipation, sloped shoulders, and significant learning disabilities despite normal intelligence. Trisomy 20 usually results from an error that occurs when an egg or sperm cell develops (before fertilization); mosaic trisomy 20 usually results from errors in cell division soon after fertilization." "" + "cholera" "Cholera is an infectious disease, caused by intestinal infection with Vibrio cholerae, characterized by massive watery diarrhea and severe dehydration that can lead to shock and death if left untreated." "" + "trisomy 4p" "Trisomy 4p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 4, with a highly variable phenotype, typically characterized by pre- and postnatal growth delay, psychomotor developmental delay and craniofacial dysmorphism (microcephaly, prominent glabelle, hypertelorism, enlarged ears with abnormal helix and antihelix, bulbous nose with flat or depressed nasal bridge, long philtrum, retrognathia with pointed chin). Additional features include skeletal (rocker bottom feet, arachnodactyly, camptodactyly) and renal malformations, cardiac defects, ocular abnormalities and abnormal genitalia in males." "" + "partial duplication of the short arm of chromosome 4" "" + "trisomy 5p" "Trisomy 5p is a chromosomal abnormality resulting from the duplication of a segment of variable size of the short arm of chromosome 5, which usually involves the distal band 5p15. The clinical presentation is variable but is always associated with severe intellectual deficit." "" + "distal trisomy 6p" "Distal trisomy of the short arm of chromosome 6 is characterized by pre- and postnatal growth retardation, a pattern of specific facial features (mostly of the eyes), microcephaly, and developmental delay." "" + "partial duplication of the short arm of chromosome 6" "Chromosome 6p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 6. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 6p duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. This condition can occur sporadically or be inherited from aparent who is either mildy affected (has the deletion) or carries a balanced translocation. Treatment is based on the signs and symptoms present in each person." "" + "mosaic trisomy 7" "Mosaic trisomy 7 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, mostly characterized by blaschkolinear skin pigmentary dysplasia, body asymmetry, enamel dysplasia, and developmental and growth delay. Intellectual disability, facial dysmorphism (e.g. frontal bossing, abnormal palpebral fissures, strabismus, abnormally shaped ears, and micrognathia), and genital anomalies (e.g. undescended testes) have also been observed. It has been reported to be associated with maternal uniparental disomy of chromosome 7, resulting in a Silver-Russell syndrome phenotype. Cases with no associated malformations have also been reported." "" + "trisomy 8q" "Trisomy 8q is a very rare disorder characterized by duplication of the long arm of chromosome 8. The most commonly associated abnormalities include low birth weight, craniofacial abnormalities (prominent forehead, flat occiput, hypertelorism, upslanting palpebral fissures, ear and nose deformities, thin upper lips), congenital heart defects, skeletal defects, psychomotor retardation. Phenotypic features vary in relation to the duplication size." "" + "partial duplication of the long arm of chromosome 8" "" + "fibular dimelia-diplopodia syndrome" "Fibular dimelia-diplopodia syndrome is a rare developmental anomaly." "" + "thoraco-abdominal enteric duplication" "Thoraco-abdominal enteric duplication is a rare, syndromic intestinal malformation characterized by single or multiple smooth-walled, often tubular, cystic lesions, which on occasion contain ectopic gastric mucosa, located in the thorax (usually in the posterior mediastinum and to the right of the midline) and in the abdomen. Infants usually present with respiratory distress and older patients with heartburn, abdominal pain, vomiting and/or malena. Vertebral anomalies in the lower cervical spine, with CNS involvement, are frequently present and complications, such as bowel obstruction, perforation and intussusception, have also been reported." "" + "disorder of plasmalogens biosynthesis" "" + "adult hypothyroidism" "A hypothyroidism that occurs in an adult." "" + "permanent congenital hypothyroidism" "Permanent congenital hypothyroidism is a type of congenital hypothyroidism (CH), a thyroid hormone deficiency present from birth." "" + "45,X/46,XY mixed gonadal dysgenesis" "45,X/46,XY mixed gonadal dysgenesis (45,X/46,XY MGD) is a disorder of sex development (DSD) associated with a numerical sex chromosome abnormality resulting from Y-chromosome mosaicism and leading to abnormal gonadal development." "" + "Y chromosome number anomaly" "" + "monosomy" "A chromosomal abnormality consisting of the absence of one chromosome from the normal diploid number." "" + "facial dysmorphism-shawl scrotum-joint laxity syndrome" "Facial dysmorphism-shawl scrotum-joint laxity syndrome is characterised by facial dysmorphism (hypertelorism, telecanthus, downslanting palpebral fissures, ptosis, malar hypoplasia, broad nasal bridge, thin upper lip, smooth philtrum, and low-set prominent ears) and associated with joint anomalies (genu valgum or cubitus valgus, hyper-extensible joints, etc.). It has been described in two patients (a mother and her son). The boy also had hypoplastic shawl scrotum and cryptorchidism, and the mother had mild intellectual deficit." "" + "dysmorphism-cleft palate-loose skin syndrome" "Dysmorphism-cleft palate-loose skin syndrome is a rare, genetic developmental defect during embryogenesis characterized by severe psychomotor delay, intellectual disability, congential, symmetrical circumferential skin creases of arms and legs, cleft palate, and facial dysmorphism (incl. elongated face, high forehead, blepharophimosis, short palpebral fissures, microphthalmia, microcornea, epicanthic folds, telecanthus, microtia, posteriorly angulated ears, broad nasal bridge, microstomia and micrognathia). Additional features reported include short stature, microcephaly, hypotonia, pectus excavatum, severe scoliosis, hypoplastic scrotum, and mixed hearing loss." "" + "Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1" "" + "Prader-Willi syndrome due to paternal 15q11q13 deletion" "" + "Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2" "" + "Prader-Willi syndrome due to translocation" "" + "Prader-Willi syndrome due to imprinting mutation" "" + "symptomatic form of hemophilia A in female carriers" "A form of hemophilia A that manifests in some women with mutations in the F8 gene (Xq28), encoding coagulation factor VIII." "" + "symptomatic form of hemophilia B in female carriers" "A form of hemophilia B (see this term) that manifests in some women with mutations in the F9 gene (Xq28), encoding coagulation factor IX." "" + "non-acquired combined pituitary hormone deficiency" "Congenital hypopituitarism is characterized by multiple pituitary hormone deficiency, including somatotroph, thyrotroph, lactotroph, corticotroph or gonadotroph deficiencies, due to mutations of pituitary transcription factors involved in pituitary ontogenesis." "" + "transient congenital hypothyroidism" "A common, self-limiting thyroid disorder seen in preterm infants that is characterized by abnormally low serum levels of thyroxine and free thyroxine with normal serum levels of thyroid stimulating hormone." "" + "moderate multiminicore disease with hand involvement" "" + "antenatal multiminicore disease with arthrogryposis multiplex congenita" "" + "undifferentiated embryonal sarcoma of the liver" "Embryonal sarcoma of the liver is a rare primary malignant hepatic neoplasm of childhood of mesenchymal origin. It can rarely occur in adults. It is characterized by abdominal mass, right upper quadrant or epigastric pain, nausea, anorexia, intermittent fever or headache." "" + "acute lung injury" "A condition of lung damage that is characterized by bilateral pulmonary infiltrates (pulmonary edema) rich in neutrophils, and in the absence of clinical heart failure. This can represent a spectrum of pulmonary lesions, endothelial and epithelial, due to numerous factors (physical, chemical, or biological)." "" + "osteosclerosis-developmental delay-craniosynostosis syndrome" "This newly described syndrome is characterized by osteosclerosis, developmental delay and craniosynostosis." "" + "hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation" "" + "wound botulism" "Botulism that is caused by toxin that is produced in a wound contaminated with Clostridium botulinum." "" + "toxin-mediated infectious botulism" "Aform of botulism (see this term), a rare acquired neuromuscular junction disease, characterized by descending flaccid paralysis caused by botulinum neurotoxins (BoNTs), produced in vivo leading to toxin-mediated infection. Infectious botulism includes wound botulism and intestinal toxemia botulism (infant botulism and adult intestinal botulism)." "" + "infant botulism" "A botulism that occurs between 28 days to one year of life.." "" + "intestinal botulism" "A rare form of botulism, a rare acquired neuromuscular junction disease with descending flaccid paralysis caused by botulinum neurotoxins (BoNTs), and is due to intestinal colonization by Clostridium botulinum leading to toxin-mediated infection with toxemia. The disease affects infants (infant botulism) and very rarely adults (adult intestinal botulism)." "" + "adult intestinal botulism" "A very rare form of botulism, a rare acquired neuromuscular junction disease with descending flaccid paralysis caused by botulinum neurotoxins (BoNTs), and is due to intestinal colonization by Clostridium botulinum leading to toxin-mediated infection with toxemia." "" + "myopic macular degeneration" "" + "folliculotropic mycosis fungoides" "Folliculotropic mycosis fungoides is a rare variant of mycosis fungoides (MF), a form of cutaneous T-cell lymphoma, and is characterized by the presence of folliculotropic infiltrates in patch-plaque lesions usually involving the head and neck area." "" + "secondary catabolic mucinosis of skin" "" + "mycosis fungoides variant" "" + "localized pagetoid reticulosis" "A variant of mycosis fungoides, characterized by an exclusively intraepidermal atypical (cerebriform) lymphocytic infiltrate. Patients present with a localized psoriasiform or hyperkeratotic patch or plaque, usually in the extremities. Extracutaneous dissemination of the disease has never been reported." "" + "primary cutaneous CD4+ small/medium-sized pleomorphic T-cell lymphoma" "" + "indolent primary cutaneous T-cell lymphoma" "" + "primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma" "Primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma is a rare form of primary cutaneous T-cell lymphoma characterized by rapidly progressing, localized or disseminated nodules, tumors or eczematous skin lesions. It has a particularly aggressive clinical course with a high tendency to spread, in advanced stages, to extracutaneous locations (the central nervous system, lung, testes). Lymph nodes are often spared." "" + "aggressive primary cutaneous T-cell lymphoma" "" + "primary cutaneous gamma/delta-positive T-cell lymphoma" "Primary cutaneous gamma/delta-positive T-cell lymphoma is a rare, usually aggressive, subtype of cutaneous T-cell lymphoma characterized by infiltration of the epidermis, dermis or subcutaneous tissue by a clonal population of mature, gamma/delta positive cytotoxic T-cells. Typically it presents with ulcerating plaques, tumors, or subcutaneous nodules on the skin of the extremities, however, frequent involvement of mucosal and extranodal sites (such as the nasal cavity, gastrointestinal tract or lungs) is also observed. Cases associated with panniculitis may present with hemophagocytic syndrome (abrupt onset of fever, rash, cytopenia, hepatosplenomegaly and neurological compromise). Infiltration of lymph nodes, spleen and bone marrow is uncommon and resistance to multilineage chemotherapy is reported." "" + "primary cutaneous marginal zone B-cell lymphoma" "Extranodal lymphoma of lymphoid tissue associated with mucosa that is in contact with exogenous antigens. Many of the sites of these lymphomas, such as the stomach, salivary gland, and thyroid, are normally devoid of lymphoid tissue. They acquire mucosa-associated lymphoid tissue (malt) type as a result of an immunologically mediated disorder." "" + "indolent primary cutaneous B-cell lymphoma" "" + "primary cutaneous follicle center lymphoma" "A primary lymphoma of the skin composed of various numbers of small and large irregular neoplastic follicle center cells. Its morphologic pattern can be nodular, diffuse, or nodular and diffuse. It presents with solitary or grouped plaques and tumors, and it usually involves the scalp, forehead, or trunk. It rarely involves the legs. This type of cutaneous lymphoma tends to remain localized to the skin." "" + "obsolete primary cutaneous diffuse large B-cell lymphoma, leg type" "" "true" + "primary cutaneous B-cell lymphoma" "" + "autosomal dominant spondylocostal dysostosis" "Autosomal dominant spondylocostal dysostosis is a very rare and mild form of spondylocostal dysostosis characterized by vertebral and costal segmentation defects, often with a reduction in the number of ribs." "" + "uterovaginal malformation" "" + "non-syndromic uterovaginal malformation" "A uterovaginal malformation that is not part of a larger syndrome." "" + "non-syndromic urogenital tract malformation of female" "A non-syndromic urogenital tract malformation that involves the female organism." "" + "mullerian aplasia" "" + "unilateral aplasia of the mullerian ducts" "" + "true unicornuate uterus" "True unicornuate uterus is a rare, non-syndromic uterovaginal malformation characterized by a crescent-shaped, small-sized uterus containing a single horn and fallopian tube with no rudimentary horn. Urinary tract anomalies are frequently associated." "" + "pseudounicornuate uterus" "Pseudounicornuate uterus is a rare, non-syndromic uterovaginal malformation characterized by a crescent-shaped, small-sized uterus containing a single horn and fallopian tube associated with a rudimentary second horn (which can be solid or contain a cavity with functioning endometrium and be communicating or non-communicating). Urinary tract anomalies are frequently associated." "" + "didelphys uterus" "" + "bicornuate uterus" "" + "Bicervical bicornuate uterus and blind hemivagina" "" + "Bicervical bicornuate uterus with patent cervix and vagina" "" + "Unicervical bicornuate uterus" "" + "cordiform uterus" "" + "septate uterus" "" + "female infertility due to an implantation defect" "True" + "complete septate uterus" "Complete septate uterus is a rare, non-syndromic uterovaginal malformation characterized by a uterus that has a longitudinal septum which elongates from the uterine fundus to the internal or external cervical os. Most often women are asymptomatic, however dysmenorrhoea, unilateral obstruction, and endometriosis could be observed. Unlike urinary tract abnormalities, which are very rarely associated, poor reproductive outcome is frequent." "" + "partial septate uterus" "Partial septate uterus is a rare, non-syndromic uterovaginal malformation characterized by a uterus that has a longitudinal septum which extends from the uterine fundus and does not reach the internal cervical os (variable lengths and widths may be observed). Although frequently asymptomatic, an increased risk of poor reproductive outcome has been observed. Urinary tract abnormalities are very rarely associated." "" + "uterine hypoplasia" "" + "agenesis and aplasia of uterine body" "" + "uterine cervical aplasia and agenesis" "" + "obsolete rare vaginal malformation" "True" "true" + "septate vagina" "" + "longitudinal vaginal septum" "" + "transverse vaginal septum" "" + "obsolete rare breast malformation" "True" "true" + "obsolete rare non-malformative gynecologic or obstetric disease" "True" "true" + "obsolete rare non-malformative breast disease" "True" "true" + "obsolete rare non-malformative uterovaginal or vulvovaginal disease" "True" "true" + "anomaly of puberty or/and menstrual cycle" "" + "obsolete rare uterine adnexal tumor" "True" "true" + "obsolete embryonal carcinoma" "" "true" + "obsolete benign tumor of fallopian tubes" "" "true" + "obsolete malignant tumor of fallopian tubes" "" "true" + "obsolete rare breast tumor" "Any of the forms of breast neoplasm that have a rare incidence." "True" "true" + "obsolete rare benign breast tumor" "Any of the forms of breast benign neoplasm that have a rare incidence." "True" "true" + "benign breast phyllodes tumor" "A usually unilateral, benign and well circumscribed biphasic neoplasm that arises from the breast. It usually affects middle-aged women. It is characterized by the presence of a double layer of epithelial cells that are arranged in clefts, surrounded by a cellular, monomorphic spindle cell mesenchymal component. Mitoses are rare. Necrotic changes may be present in large tumors." "" + "giant adenofibroma of the breast" "Giant adenofibroma of the breast is a rare, benign, fibroepithelial tumor which usually manifests as a unilateral, painless, firm, mobile, slow-growing mass in the breast that measures more than 5 cm. It can be associated with significant asymmetry and/or deformity of the breast and hormonal changes (e.g. puberty, pregnancy, oral contraceptives) can lead to its marked enlargement." "" + "Paget disease of the nipple" "Paget disease of the nipple describes a rare presentation of breast cancer, seen most frequently in women aged 50-60, manifesting with nipple drainage and itching, erythema, crusty and excoriated nipple, thickened plaques, and hyperpigmentation (less frequently). It is due to tumor cells invading the nipple-areola complex and represents 1-3% of all new breast cancer diagnoses." "" + "benign ductal tumor of breast" "" + "obsolete rare non-malformative uterine adnexal disease" "True" "true" + "obsolete rare vulvovaginal tumor" "True" "true" + "obsolete rare disease with autism" "" "true" + "obsolete gastroesophageal tumor" "A tumor involving the gastroesophageal tissue." "" "true" + "obsolete rare tumor of pancreas" "Any of the forms of pancreatic neoplasm that have a rare incidence." "True" "true" + "hidrotic ectodermal dysplasia, Halal type" "Hidrotic ectodermal dysplasia, Halal type is a form of ectodermal dysplasia syndrome characterized by trichodysplasia, with absent eyebrows and eyelashes, onychodysplasia, mild retrognathia, abnormal dermatoglyphics (excess of whorls on fingertips, radial loop on finger, hypothenar pattern), intellectual disability and normal teeth and sweating. Additional variable manifestations include high implanted or prominent ears, mild hearing loss, supernumerary nipple, cafC)-au-lait spots, keratosis pilaris, and irregular menses. To date, four individuals from 2 generations of a consanguineous family of Portuguese descent have been described in the literature. Males and females were equally affected. Hidrotic ectodermal dysplasia, Halal type is inherited in an autosomal recessive manner." "" + "obsolete rare insulin-resistance syndrome" "A cluster of closely related metabolic abnormalities associated with insulin resistance that confer an increased risk of the development of type 2 diabetes and cardiovascular disease. These abnormalities may include obesity, high blood pressure, abnormal cholesterol levels, proteinuria, and/or polycystic ovary syndrome." "True" "true" + "obsolete rare diabetes mellitus type 1" "Any of the forms of type 1 diabetes mellitus that have a rare incidence." "True" "true" + "obsolete rare diabetes mellitus type 2" "True" "true" + "obsolete other rare diabetes mellitus" "True" "true" + "obsolete rare hypothalamic or pituitary disease" "True" "true" + "obsolete rare disorder with congenital hypogonadotropic hypogonadism" "True" "true" + "obsolete hypogonadotropic hypogonadism associated with other endocrinopathies" "" "true" + "obsolete rare hypothyroidism" "Any of the forms of hypothyroidism that have a rare incidence." "True" "true" + "obsolete rare hyperthyroidism" "Any of the forms of hyperthyroidism that have a rare incidence." "True" "true" + "obsolete rare hypoparathyroidism" "Rare hypoparathyroidism." "True" "true" + "obsolete rare hyperparathyroidism" "Rare hyperparathyroidism." "True" "true" + "obsolete rare genetic adrenal disease" "True" "true" + "obsolete rare primary hyperaldosteronism" "Any of the forms of primary aldosteronism that have a rare incidence." "True" "true" + "hypoaldosteronism disease" "" + "obsolete rare inherited hyperlipidemia" "True" "true" + "obsolete rare hypolipidemia" "True" "true" + "obsolete rare disorder with hypergonadotropic hypogonadism" "True" "true" + "epimetaphyseal skeletal dysplasia" "" + "chromomycosis" "Chromomycosis is a chronic cutaneous and subcutaneous fungal infection, found mainly in subtropical and tropical areas (in soil and plant debris and transmitted by traumatic inoculation), and characterized clinically by slow growing, verrucous nodules, squamous plaques, or chronic limited lesions which are most commonly found on the lower limbs and which are characterized histologically by the presence of muriform cells. It is caused by dematiaceous fungi, with the main etiological agents being Fonsecaea pedrosoi, Phialophora verrucosa and Cladophialophora carrionii. Rarely, it can be caused by Rhinocladiella aquaspersa." "" + "obsolete rare acquired hemolytic anemia" "Hemolytic anemia, the cause of which is not present at birth." "True" "true" + "macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss" "An inherited giant platelet disorder with a complex phenotype characterized by congenital thrombocytopenia and possible subsequent manifestations of sensorineural hearing loss, presenile cataracts, elevation of liver enzymes, and/or progressive nephropathy often leading to end-stage renal disease (ESRD). Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly and Sebastian syndrome, previously described as distinct disorders, represent some of the different clinical presentations of MYH9-RD." "" + "obsolete rare thrombotic disease of hematologic origin" "True" "true" + "cerebellar malformation" "" + "obsolete rare neuroinflammatory or neuroimmunological disease" "True" "true" + "obsolete malignant glioma" "" "true" + "obsolete rare neurodegenerative disease" "Rare neurodegenerative disease." "True" "true" + "acquired peripheral neuropathy" "An instance of peripheral neuropathy that is acquired during the lifetime of the individual." "" + "idiopathic eosinophilic pneumonia" "" + "primary interstitial lung disease in childhood and adulthood due to alveolar vascular disorder" "True" + "respiratory or thoracic malformation" "" + "obsolete rare urogenital tumor" "True" "true" + "non-syndromic urogenital tract malformation of male and female" "" + "obsolete rare tumor of endocrine glands" "A rare tumor that involves the endocrine gland." "True" "true" + "obsolete rare inflammatory eye disease" "True" "true" + "obsolete systemic disease" "" "true" + "obsolete systemic autoimmune disease" "An autoimmune form of systemic disease." "" "true" + "epiphyseal dysplasia-hearing loss-dysmorphism syndrome" "Epiphyseal dysplasia-hearing loss-dysmorphism syndrome is a rare multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay, intellectual disability, short stature, sensorineural hearing impairment, facial dysmorphism (incl. epicanthus, broad, depressed nasal bridge, broad, fleshy nasal tip, mildly anteverted nares, deep nasolabial folds, broad mouth with thin upper lip) and skeletal anomalies (incl. abnormally placed thumbs, brachydactyly, scoliosis, dysplastic carpal bones). Patients also present severe behavior disturbances (aggression, hyperactivity), as well as hypopigmented skin lesions and hypoplastic digital patterns. There have been no further descriptions in the literature since 1992." "" + "eosinophilic granulomatosis with polyangiitis" "Eosinophilic granulomatosis with polyangiitis (EGPA), previously known as Churg-Strauss syndrome, is a systemic vasculitis of small-to medium vessels, characterized by asthma, transient pulmonary infiltrates, and hypereosinophilia." "" + "non-familial rare disease with dilated cardiomyopathy" "True" + "axial mesodermal dysplasia spectrum" "Axial mesodermal dysplasia spectrum is a rare developmental defect during embryogenesis syndrome characterized by congenital manifestations of both oculo-auriculo-vertebral spectrum and caudal regression sequence. Phenotype is highly variable but patients typically present facial dysmorphism (incl. asymmetry, hypertelorism), auricular abnormalities (e.g. preauricular tags, microtia, absence of middle ear ossicles), skeletal malformations (hemivertebrae, hip dislocation, sacral agenesis/dysplasia, talipes equinovarus, flexion deformity of lower limbs), cardiac defects (dextrocardia, septal defects), renal and genitourinary anomalies (such as renal agensis/dysplasia, abnormal external genitalia, cryptorchidia), as well as anal anomalies such as anal atresia and rectovesical fistula." "" + "obsolete rare genetic epidermal disorder" "True" "true" + "obsolete rare genetic skin vascular disorder" "True" "true" + "obsolete rare genetic subcutaneous tissue disorder" "True" "true" + "obsolete genetic neurodegenerative disease" "" "true" + "obsolete rare genetic headache disorder" "True" "true" + "obsolete rare hereditary ataxia" "Rare hereditary ataxia." "" "true" + "obsolete rare genetic movement disorder" "Rare genetic movement disorder." "True" "true" + "obsolete rare genetic bone disease" "Rare genetic bone disease." "True" "true" + "obsolete obsolete rare genetic palpebral, lacrimal system and conjunctival disease" "" "true" + "obsolete rare genetic refraction anomaly" "True" "true" + "monogenic diabetes" "Rare genetic diabetes mellitus." "" + "obsolete rare genetic thyroid disease" "Rare genetic thyroid disease." "True" "true" + "obsolete rare genetic parathyroid disease and phosphocalcic metabolism disorder" "True" "true" + "obsolete rare constitutional anemia" "A form of anemia (disease) that is both rare and inborn." "True" "true" + "obsolete rare genetic coagulation disorder" "" "true" + "obsolete rare genetic gynecological and obstetrical diseases" "True" "true" + "obsolete inherited gynecological tumor" "" "true" + "obsolete rare genetic intellectual disability" "Rare genetic intellectual disability." "True" "true" + "obsolete rare genetic immune disease" "Rare genetic immune system disease." "True" "true" + "bone dysplasia, Azouz type" "Bone dysplasia Azouz type is a form of generalized enchondromatosis with involvement of the spine (so called spondyloenchondromatosis). Spondyloenchondromatosis is a very rare skeletal dysplasia characterized by severe platyspondyly, and mild involvement of hands and feet." "" + "scimitar syndrome" "Scimitar syndrome is characterized by a combination of cardiopulmonary anomalies including partial anomalous pulmonary venous return connection of the right lung to the inferior caval vein leading to the creation of a left-to-right shunt." "" + "multicystic dysplastic kidney" "Multicystic dysplastic kidney (MCDK) is a congenital anomaly of the kidney and urinary tract (CAKUT) in which one or both kidneys (unilateral or bilateral MCDK respectively) are large, distended by multiple cysts, and non-functional." "" + "obsolete congenital valvular dysplasia" "" "true" + "obsolete progressive cone dystrophy" "" "true" + "muscular dystrophy-white matter spongiosis syndrome" "" + "melorheostosis with osteopoikilosis" "Melorheostosis with osteopoikilosis is a rare sclerosing bone dysplasia, combining the clinical and radiological features of melorheostosis and osteopoikilosis, that has been reported in some families with osteopoikilosis and that is characterized by a variable presentation of limb pain and deformities." "" + "obsolete systemic capillary leak syndrome" "" "true" + "ectopia lentis-chorioretinal dystrophy-myopia syndrome" "Ectopia lentis-chorioretinal dystrophy-myopia syndrome is characterised by anomalies of the lens (ectopia and cataracts) and retina (generalized tapetoretinal dystrophy and total retinal detachment). Myopia has also been reported. It has been described in four members of the same family, all resulting from a consanguineous marriage. The mode of transmission is autosomal recessive." "" + "familial isolated hypoparathyroidism due to impaired PTH secretion" "" + "Ehlers-Danlos syndrome, kyphoscoliotic type 1" "Ehlers-Danlos syndrome, kyphoscoliotic type (EDKT) is a form of Ehlers-Danlos syndrome characterized by severe hypotonia and kyphoscoliosis at birth, generalized joint hyperextensibility and ocular globe fragility." "" + "aminopterin/methotrexate embryofetopathy" "Aminopterin/Methotrexate embryofetopathy is a syndrome of developmental anomalies characterized by growth deficiency, facial dysmorphism and skull, limb and neural defects secondary to maternal exposure to aminopterin or methotrexate (MTX) during pregnancy." "" + "indomethacin embryofetopathy" "Indomethacin embryofetopathy refers to the manifestations that may be observed in a fetus or newborn when the mother has taken indomethacin, a potent prostaglandin inhibitor and tocolytic agent that can cross placenta, during pregnancy. Reported adverse fetal/neonatal effects include decreased renal function resulting in oligohydramnios, closure of the ductus arteriosus, and delayed cardiovascular adaptation at birth. These effects are usually transient and reversible. Indomethacin may also be a risk factor for cerebral injury (periventricular leukomalacia) and necrotizing enterocolitisin preterm infants." "" + "cocaine embryofetopathy" "A group of clinical signs observed in newborns exposed in utero to cocaine, a short-acting central nervous system stimulant used as a recreational drug through inhalation of the powder or intravenous injection. Cocaine use during pregnancy is associated with intrauterine growth restriction, low birth weight, seizures, respiratory distress (decreased apnea density and periodic breathing), feeding difficulties, irritability and lability of state, decreased behavioral and autonomic regulation, poor alertness and orientation and cognitive impairment (impaired auditory information processing , visual-spatial delay and subtle language delay) in the offspring." "" + "fetal hydantoin syndrome" "Fetal hydantoin syndrome is a drug-related embryofetopathy that can occur when an embryo/fetus is exposed to the anticonvulsant drug phenytoin, characterized by distinct craniofacial anomalies (hypertelorism and epicanthal folds, short nose and deep nasal bridge, malformed and low set ears, short neck) as well as hypoplastic distal phalanges and underdevelopment of nails of fingers and toes, prenatal and postnatal growth retardation, and neurological impairment (at a 2-3 times higher risk than that of the general population) including cognitive deficits and motor developmental delay. Less commonly, microcephaly, ocular defects, oral clefts, umbilical and inguinal hernias, hypospadias and cardiac anomalies have also been reported." "" + "vitamin K-antagonist embryofetopathy" "A teratogenic disorder observed in a newborn or child of a mother who was exposed to warfarin during pregnancy. Manifestations include nasal bridge depression, nasal bones hypoplasia, microcephaly, congenital heart disorders, and brachydactyly." "" + "fetal alcohol syndrome" "Fetal alcohol syndrome (FAS) is a rare malformation syndrome caused by excessive maternal consumption of alcohol during pregnancy. It is characterized by prenatal and/or postnatal growth deficiency (weight and/or height <10th percentile), a unique cluster of minor facial anomalies (short palpebral fissures, flat and smooth philtrum, and thin upper lip) and severe central nervous system (CNS) abnormalities including microcephaly, and cognitive and behavioral impairment (intellectual disability, deficit in general cognition, learning and language, executive function, visual-spatial processing, memory, and attention)." "" + "diethylstilbestrol syndrome" "Diethylstilbestrol (DES) syndrome is a malformation syndrome reported in offspring (children and grandchildren) of women exposed to DES during pregnancy and is characterized by reproductive tract malformations, decreased fertility and increased risk of developing clear cell carcinoma of the vagina and cervix in young women. Reproductive malformations reported in DES syndrome include small, T-shaped uteri and other uterotubal anomalies that increase the risk of miscarriages in women and epididymal cysts, microphallus, cryptorchidism, or testicular hypoplasia in men. DES, a synthetic nonsteroidal estrogen was widely prescribed from 1940-1970 to prevent miscarriage." "" + "fetal methylmercury syndrome" "Foetal methylmercury syndrome is characterised by a group of symptoms that may be observed in a foetus or newborn when the mother was exposed during pregnancy to excessive amounts of methylmercury." "" + "fetal minoxidil syndrome" "Fetal minoxidil syndrome is characterized by a group of symptoms that may be observed in a fetus or newborn when the mother has taken minoxidil during pregnancy. Minoxidil is used in the treatment of malignant renal hypertension and as a topical solution to induce scalp hair growth. Hypertrichosis that gradually diminishes during the first six postnatal months has been reported. Additional reported features include cardiac (congenital great vessel transposition and pulmonary valve stenosis), neurodevelopmental (caudal regression sequence), gastrointestinal, renal, and limb malformations. Conclusive studies are however not available." "" + "phenobarbital embryopathy" "A teratologic disorder associated with intrauterine exposure of phenorbarbital during the first trimester of pregnancy. Infants are usually asymptomatic but an increased risk of intellectual disability, tetralogy of Fallot, unilateral cleft lip, hypoplasia of the mitral valve and some other mild abnormalities such as hypertelorism, epicanthus, hypoplasia and low insertion of the nose, low insertion of the ears, prognathism, finger hypoplasia, brachydactyly and hypospadias have been reported in rare cases." "" + "toluene embryopathy" "Toluene embryopathy is a neurodevelopmental teratologic syndrome due to prenatal exposure to toluene. The disease is characterized by prematurity, low birth weight, dysmorphic features (short palpebral fissures, deep set eyes, low set ears, mid-facial hypoplasia, flat nasal bridge, thin upper lip, micrognathia, spatulate fingertips and small fingernails), central nervous system dysfunctions (intellectual disability, microcephaly, language impairment, hyperactivity, visual dysfunction) and postnatal growth delay. Prenatal exposure to toluene occurs as a result of incidental occupational exposure or solvent abuse during pregnancy. The features of toluene embryopathy often overlap with those seen in fetal alcohol syndrome." "" + "methimazole embryofetopathy" "Methimazole embryopathy is a teratogenic embryofetopathy that results from maternal exposition to methimazole (MMI; or the parent compound carbimazole) in the first trimester of pregnancy. MMI is an antithyroid thionamide drug used for the treatment of Graves' disease. In the infant, MMI may result in choanal atresia, esophageal atresia, omphalocele, omphalomesenteric duct anomalies, congenital heart disease (such as ventricular septal defect), renal system malformations and aplasia cutis. Additional features that may be observed include facial dysmorphism (short upslanting palpebral fissures, a broad nasal bridge with a small nose and a broad forehead) and athelia/hypothelia." "" + "maternal disease-related embryofetopathy" "" + "non-familial hypertrophic cardiomyopathy" "An instance of hypertrophic cardiomyopathy that is acquired during the lifetime of the individual." "" + "Rasmussen subacute encephalitis" "A rare, progressive chronic inflammation of a single cerebral hemisphere that usually affects children. It is characterized by severe seizures, loss of motor skills and speech, hemiparesis, and dementia." "" + "immune epilepsy" "Epilepsies that have a distinct immune-mediated etiology with evidence of central nervous system inflammation, that has been demonstrated to be associated with a substantially increased risk of developing epilepsy." "" + "frontal encephalocele" "" + "obsolete early infantile epileptic encephalopathy" "" "true" + "neonatal/infantile epilepsy syndrome" "An epilepsy sydrome that has an onset during the neonatal or infantile stage of life." "" + "obsolete ocular coloboma" "" "true" + "shoulder and thorax deformity-congenital heart disease syndrome" "" + "infant epilepsy with migrant focal crisis" "An infantile epilepsy syndrome characterized by early-onset progressive encephalopathy with migrant, continuous myoclonus. Three cases have been reported. The focal continuous myoclonus appeared during the first months of life. Prolonged bilateral myoclonic seizures and generalized tonic-clonic seizures occurred later. Subsequently, a progressive encephalopathy with hypotonia and ataxia appeared. Cortical atrophy was revealed by computed tomography (CT) scan and magnetic resonance imaging (MRI). The aetiology is unknown." "" + "esthesioneuroblastoma" "Esthesioneuroblastoma (ENB) is a rare malignant neoplasm of the sinonasal cavity, arising from the basal layers of olfactory neuroepithelial cells in the superior nasal vault, which usually occurs in the 5th to 6th decades of life and is characterized clinically by non-specific symptoms such as progressive ipsilateral nasal block, sinusitis, facial pain, intermittent headaches, hyposmia/dysosmia, rhinorrhea and epistaxis as well as proptosis, diplopia and excessive lacrimation due to orbital extension. With early treatment and in the absence of distant metastases, ENB appears to have a good prognosis (compared to other superior nasal malignancies), despite a high rate of cervical metastases." "" + "Evans syndrome" "Evans syndrome is a rare chronic hematologic disorder characterized by the simultaneous or sequential association of autoimmune hemolytic anemia (AIHA; a disorder in which auto-antibodies are directed against red blood cells causing anemia of varying degrees of severity) with immune thrombocytopenic purpura (ITP; a coagulation disorder in which auto-antibodies are directed against platelets causing hemorrhagic episodes) and occasionally autoimmune neutropenia, in the absence of a known underlying etiology." "" + "facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome" "" + "femoral agenesis/hypoplasia" "Congenital short femur is a rare malformation of variable severity ranging from mild hypoplasia to complete absence of the femur." "" + "non-syndromic limb reduction defect" "" + "obsolete rare disorder with ptosis" "True" "true" + "Nelson syndrome" "A syndrome that develops following bilateral adrenalectomy for Cushing syndrome. The signs and symptoms result from the presence of an adenocorticotropin-secreting pituitary gland adenoma, and include enlargement of the sella turcica and pressure on the adjacent structures, and skin hyperpigmentation." "" + "Ledderhose disease" "Ledderhose disease is a type of plantar fibromatosis characterized by the growth of hard and round or flattened nodules (lumps) on the soles of the feet. It is generally seen in middle-aged and elderly people, and affects men approximately 10 times more often than it affects women. It typically affects both feet and progresses slowly, but not indefinitely. The nodules are typically painless at first, but may cause pain when walking as they grow. Often, people with Ledderhose disease also have other conditions associated with the formation of excess fibrous connective tissue such as Dupuytren contracture, knuckle pads, or Peyronie disease. Repeated trauma, long-term alcohol consumption, chronic liver disease, diabetes, and epilepsy have also been reported in association with this condition. The exact cause of Ledderhose disease is not known, but heredity is thought to play a role in many cases. Treatment, if needed, involves conservative management, steroid injections, radiotherapy, and surgery (plantar facia removal (fasciectomy) and surgical removal of of the fibrous tissue. The condition has a good prognosis, although slow progression is not uncommon. Fasciectomy has been shown to reduce the rate of recurrences." "" + "calcified aponeurotic fibroma" "A rare slow-growing benign neoplasm arising from the soft tissues in children. It is a poorly circumscribed tumor characterized by the presence of chondrocyte-like cells, nodular calcification, nuclear palisading, and in some cases osteoclastic giant cells." "" + "infantile digital fibromatosis" "" + "harlequin syndrome" "Harlequin syndrome (HSD) is an autonomic disorder occurring at any age and characterized by unilateral flushing and sweating, involving the face and sometimes arm and chest, in condition of thermal, exercise or emotional stress without sympathetic ocular manifestations. However, tonic pupils, parasympathetic oculomotor lesion and pre- or postganglionic sudomotor sympathetic deficit can rarely occur." "" + "congenital microgastria" "Congenital microgastria is a rare malformation where the embryological development of the stomach is interrupted, leading to an abnormally small foregut in newborns and characterized by extreme feeding intolerance and malnutrition along with growth retardation and death if untreated. It is usually associated with multiple congenital anomalies." "" + "late-onset isolated ACTH deficiency" "Late-onset isolated ACTH deficiency is a rare, acquired, pituitary hormone deficiency characterized by secondary adrenal insufficiency, with normal secretion of anterior pituitary hormones, except for ACTH. Patients present with weakness, fatigue, weight loss, anorexia, vomiting/nausea, hypoglycemia, and abnormally low serum ACTH and cortisol levels. Association with autoimmune disease such as Hashimoto's thyroiditis has been described." "" + "tetragametic chimerism" "Tetragametic chimerism is a rare, sex chromosome disorder of sex development characterized by the two different haploid sets of maternal and paternal chromosomes and variable phenotype - from normal male or female genitalia, to different degrees of ambiguous genitalia, and often infertility. Also, in the cases of monochorionic dizygotic twins, it can be confined to blood of both twins." "" + "isolated autosomal dominant hypomagnesemia, Glaudemans type" "Isolated autosomal dominant hypomagnesemia, Glaudemans type (IADHG) is a form of familial primary hypomagnesemia (FPH), characterized by low serum magnesium (Mg) values but normal urinary Mg values. The typical clinical features are recurrent muscle cramps, episodes of tetany, tremor, and muscle weakness, especially in distal limbs. The disease is potentially fatal." "" + "congenital myopathy, Paradas type" "Paradas type congenital myopathy is an early-onset form of dysferlinopathy presenting with postnatal hypotonia, weakness in the proximal lower limbs and neck flexor muscles at birth and delayed motor development." "" + "thiamine-responsive encephalopathy" "Thiamine-responsive encephalopathy is a Wernicke-like encephalopathy characterized by seizures responsive to high doses of thiamine." "True" + "cleft lip-retinopathy syndrome" "Cleft lip - retinopathy is an exceedingly rare association characterized by cleft lip and progressive retinopathy." "" + "atypical autism" "Atypical autism is a pervasive developmental disorder that does not fit the diagnosis for the other specific autistic spectrum disorders (autism, Asperger syndrome, Rett syndrome or childhood disintegrative disorder) and is characterized by usually milder developmental and social delay and less stereotypical autistic behavior. '" "" + "isolated cerebellar vermis hypoplasia" "Isolated cerebellar vermis hypoplasia is a rare, non-syndromic cerebellar malformation characterized by an underdeveloped cerebellar vermis. Patients may present a variable phenotype ranging from normal neurodevelopment to motor and/or language delay, variable degrees of cognitive impairment, hypotonia, equilibrium disturbances, static/dynamic ataxia, oculomotor abnormalities, epilepsy and/or clumsiness. Behavioral disorders such as attention deficit hyperactivity disorder and generalized anxiety have also been reported. Brain MRI may reveal diffuse or selective (mostly posterior) vermian cerebellar hypoplasia and EEG may show focal paroxysms." "" + "obsolete syndrome with corpus callosum agenesis /dysgenesis as a major feature" "True" "true" + "cephalocele" "A congenital neural tube closure defect resulting in the protrusion of the brain through a skull opening. When the protrusion includes the meninges, the term encephalomeningocele is used." "" + "combined dystonia" "A dystonia that is combined with another movement disorder (e.g., myoclonus, parkinsonism)." "" + "cleft lip/palate-deafness-sacral lipoma syndrome" "Cleft lip/palate-deafness-sacral lipoma syndrome is characterised by cleft lip/palate, profound sensorineural deafness, and a sacral lipoma. It has been described in two brothers of Chinese origin born to non consanguineous parents. Additional findings included appendages on the heel and thigh, or anterior sacral meningocele and dislocated hip. The mode of inheritance is probably autosomal or X-linked recessive." "" + "immunodeficiency with factor H anomaly" "" + "median cleft lip/mandibule" "Midline cleft of lower lip is a rare anomaly defined as Cleft No. 30 in Tessier's classification." "" + "cleft palate-short stature-vertebral anomalies syndrome" "Cleft palate- short stature- vertebral anomalies is a multiple congenital anomalies syndrome described in a father and son characterized by the association of cleft palate, peculiar facies (asymmetrical appearance, inner epicanthal folds, short nose, anteverted nostrils, low and back-oriented ears, thin upper lip and micrognathism), short stature, short neck, vertebral anomalies and intellectual disability. The transmission is presumed to be autosomal dominant. There have been no further descriptions in the literature since 1993." "" + "sternal cleft" "Sternal cleft (SC) is a rare idiopathic congenital thoracic malformation characterized by a sternal fusion defect, that can be complete or partial (either superior or inferior), that is usually asymptomatic in the neonatal period (apart from a paradoxical midline thoracic bulging) but that can lead to dyspnea, cough, frequent respiratory infections and increased risk of trauma-related injury to the heart, lungs and major vessels if left untreated." "" + "Crandall syndrome" "This syndrome is characterized by progressive sensorineural deafness, alopecia and hypogonadism with LH and GH deficiencies. It has been described in three brothers. It resembles Bjrnstad's syndrome that combines irregular pili torti and deafness. It is probably inherited as and autosomal recessive disorder." "" + "" "true" + "juvenile hyaline fibromatosis" "Juvenile hyaline fibromatosis (JHF) is a rare soft tissue tumor, characterized by papulo-nodular skin lesions (especially around the head and neck), soft tissue masses, gingival hypertrophy, joint contractures, and osteolytic bone lesions in variable degrees. Joint contractures may cripple patients and delay normal motor development if occuring in infancy. Severe gingival hyperplasia can interfere with eating and delay dentition. Histopathology analysis of involved tissues reveals cords of spindle-shaped cells embedded in an amorphous, hyaline material. JHF is a mild form of infantile systemic hyalinosis." "" + "anophthalmia-microphthalmia syndrome" "" + "obsolete fibrosarcoma" "" "true" + "obsolete lymphatic filariasis" "" "true" + "congenital aortopulmonary window" "" + "congenital systemic arteriovenous fistula" "" + "congenital arteriovenous fistula" "An abnormal, epithelial-lined connection between an artery and vein that is present at the time of birth." "" + "sporadic Creutzfeldt-Jakob disease" "Sporadic Creutzfeldt-Jakob disease (sCJD) is a subacute fatal neurodegenerative disease belonging to the group of prion diseases, characterized by a clinical triad of dementia, myoclonus, and EEG anomalies, along with neuropathological evidence of neuronal loss, spongiform changes, and astrocytosis. There are three types of CJD: sporadicCJD (sCJD), inherited CJD, and iatrogenic and variant CJD (vCJD)." "" + "congenital bronchobiliary fistula" "Congenital respiratory-biliary fistula (RBF) is a rare developmental defect characterized by an anomalous connection of trachea or bronchus with left hepatic duct presenting with respiratory distress, recurrent respiratory infections and biliary expectoration or vomitus." "" + "coronary arterial fistulas" "Coronary arterial fistulas are a connection between one or more of the coronary arteries and a cardiac chamber or great vessel." "" + "obsolete tracheo-esophageal fistula-hypospadias syndrome" "" "true" + "FLOTCH syndrome" "FLOTCH syndrome is a rare, genetic, cutaneous disorder characterized by leuchonychia and multiple, recurrent pilar cysts, associated or not with ciliar dystrophy and/or koilonychia. Renal calculi have also been reported." "" + "obsolete Crigler-Najjar syndrome" "" "true" + "osteochondritis of tarsal/metatarsal bone" "Osteochondritis of tarsal/metatarsal bone is a very rare form of osteochondritis dissecans characterized by generally self-limiting bone lesions that may cause pain and swelling often localized at the tarsal navicular bone" "" + "progressive non-infectious anterior vertebral fusion" "Progressive non-infectious anterior vertebral fusion (PAVF) is an early childhood spinal disorder characterized by the gradual onset of thoracic and/or lumbar spine ankylosis often in conjunction with kyphosis with distinctive radiological features." "" + "infantile Krabbe disease" "" + "late-infantile/juvenile Krabbe disease" "" + "adult Krabbe disease" "A Krabbe disease that occurs in an adult." "" + "serous or mucinous cystadenoma of childhood" "Serous or mucinous cystadenoma of childhood is a benign epithelial ovarian tumor characterized by a usually unilateral, cystic, unilocular or multilocular lesion with a thin wall or septa and no intracystic solid portion on imaging. It often presents with abdominal pain or an asymptomatic abdominal mass and can be associated with ovarian torsion or malignant transformation." "" + "borderline epithelial tumor of ovary" "A low grade epithelial tumor arising from the ovary. It is characterized by an atypical proliferation of epithelial cells. There is no evidence of stromal invasion." "" + "symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers" "Symptomatic forms of Duchenne and Becker muscular dystrophies (DMD and BMD) in females carriers are characterized by variable degrees of muscle weakness due to progressive skeletal myopathy, sometimes associated with dilated cardiomyopathy or left ventricle dilation." "" + "immune-mediated necrotizing myopathy" "Necrotizing autoimmune myopathy (NAM) is a rare form of idiopathic inflammatory myopathy characterized clinically by acute or subacute proximal muscle weakness, and histopathologically by myocyte necrosis and regeneration without significant inflammation." "" + "overlap myositis" "Overlap myositis (OM) is a form of idiopathic inflammatory myopathy (IIM) characterized by myositis with at least one clinical and/or autoantibody overlap feature." "" + "rippling muscle disease with myasthenia gravis" "" + "acquired rippling muscle disease" "The acquired form of RMD. Although RMD most often is reported with autosomal dominant inheritance, some sporadic cases are found, and an association with other diseases such as myasthenia gravis has also been reported." "" + "neurolymphomatosis" "A transmissible viral disease of birds caused by avian herpesvirus 2 (herpesvirus 2, gallid) and other mardivirus. There is lymphoid cell infiltration or lymphomatous tumor formation in the peripheral nerves and gonads, but may also involve visceral organs, skin, muscle, and the eye." "" + "subacute inflammatory demyelinating polyneuropathy" "A subacute progressive symmetric sensorial and/or motor disorder characterized by muscular weakness with impaired sensation, absent or diminished tendon reflexes and elevated cerebrospinal fluid (CSF) proteins. SIDP is an intermediate form between Guillain-Barre syndrome (GBS) and chronic inflammatory demyelinating polyneuropathy (CIDP)." "" + "acute and subacute inflammatory demyelinating polyneuropathy" "True" + "isolated asymptomatic elevation of creatine phosphokinase" "Isolated hyperCKemia is a condition characterized by elevated levels of an enzyme called creatine kinase in the blood. In affected individuals, levels of this enzyme are typically 3 to 10 times higher than normal. While elevated creatine kinase often accompanies various muscle diseases, individuals with isolated hyperCKemia have no muscle weakness or other symptoms. Some people with this condition have abnormalities of muscle cells that can be seen with a microscope, such as unusual variability in the size of muscle fibers, but these changes do not affect the function of the muscle." "" + "caveolinopathy" "A group of muscle diseases with basis in CAV3, which encodes caveolin-3, a muscle-specific membrane protein and the principal component of caveolae membrane in muscle cells in vivo. It is the only gene in which pathogenic variants are known to cause caveolinopathies. Sequence analysis identifies pathogenic variants in more than 99% of affected individuals" "" + "obsolete non-dystrophic myopathy with collagen 6 anomaly" "" "true" + "obsolete mitochondrial myopathy" "" "true" + "obsolete drug and/or toxic myopathy" "" "true" + "infectious, fungal or parasitic myopathy" "" + "viral myositis" "" + "bacterial myositis" "" + "parasitic myositis" "" + "fungal myositis" "" + "obsolete spinal muscular atrophy associated with central nervous system anomaly" "" "true" + "obsolete rare hereditary disease with peripheral neuropathy" "True" "true" + "obsolete rare hereditary systemic disease with peripheral neuropathy" "True" "true" + "obsolete rare hereditary neurologic disease with peripheral neuropathy" "True" "true" + "obsolete malignant lymphoma with peripheral neuropathy" "" "true" + "qualitative or quantitative protein defects in neuromuscular diseases" "" + "sarcoglycanopathy" "Deficiencies or mutations in the genes for the sarcoglycan complex subunits. A variety of phenotypes are associated with these mutations including a subgroup of autosomal recessive limb girdle muscular dystrophies, cardiomyopathies, and respiratory deficiency." "" + "obsolete qualitative or quantitative defects of collagen 6" "" "true" + "qualitative or quantitative defects of merosin" "" + "disorder of protein O-glycosylation" "A disease that has its basis in the disruption of protein O-linked glycosylation." "" + "qualitative or quantitative defects of alpha-dystroglycan" "" + "narcolepsy without cataplexy" "Narcolepsy without cataplexy is characterized by excessive day-time sleepiness associated with uncontrollable sleep urges and sometimes paralysis at sleep, hypnagogic hallucinations and automatic behavior." "" + "Gemignani syndrome" "" + "cerebral gigantism-jaw cysts syndrome" "Cerebral gigantism-jaw cysts syndrome is characterised by cerebral gigantism associated with a jaw cyst basal cell naevoid syndrome." "" + "herpetiform pemphigus" "Herpetiform pemphigus is a rare superficial pemphigus disease characterized by severe intractable pruritus with erythematous or urticarial plaques and vesicles organized in a herpetiform pattern. Mucosae are generally spared. Eosinophilia in peripheral blood and low titers of circulating autoantibodies are observed in many cases. Histologically, minimal or no apparent acantholysis is associated." "" + "superficial pemphigus" "Pemphigus is a group of chronic autoimmune skin diseases characterised by blister formations on the outer layer of the skin and the mucous membranes. Three clinical forms have been characterised, one of which is superficial pemphigus, including the seborrheic, erythematosus, foliaceous and herpetiform variants." "" + "genetic hyperparathyroidism" "Genetic hyperparathyroidism." "" + "tumor of cranial and spinal nerves" "" + "chronic acquired demyelinating polyneuropathy" "Chronic form of acquired peripheral neuropathy." "" + "polyradiculoneuropathy associated with IgG/IgA/IgM monoclonal gammopathy without known antibodies" "" + "peripheral neuropathy associated with monoclonal gammopathy" "True" + "acquired sensory ganglionopathy" "An instance of sensory ganglionopathy that is acquired during the lifetime of the individual." "" + "non-paraneoplastic sensory ganglionopathy" "" + "paraneoplastic sensory ganglionopathy" "" + "solid tumor associated with an acquired peripheral neuropathy" "True" + "cutis laxa" "Cutis laxa (CL) is an inherited or acquired connective tissue disorder characterized by wrinkled, redundant and sagging inelastic skin associated with skeletal and developmental anomalies and, in some cases, with severe systemic involvement. Several different forms of inherited CL have been described, differentiated on the basis of the mode of inheritance and differences in the extent of internal organ involvement, associated anomalies and disease severity." "" + "axonal polyneuropathy associated with IgG/IgM/IgA monoclonal gammopathy" "" + "acquired amyloid peripheral neuropathy" "" + "qualitative or quantitative defects of protein O-mannose beta1,2N-acetylglucosaminyltransferase" "" + "qualitative or quantitative defects of protein glycosyltransferase-like" "" + "qualitative or quantitative defects of myofibrillar proteins" "" + "qualitative or quantitative defects of alphaB-cristallin" "" + "autosomal dominant rhegmatogenous retinal detachment" "Autosomal dominant form of rhegmatogenous retinal detachment." "" + "hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency" "" + "idiopathic copper-associated cirrhosis" "Idiopathic copper-associated cirrhosis is a rare copper-overload liver disease characterized by a rapidly progressive liver cirrhosis from the first few years of life leading to hepatic insufficiency and harboring a specific pathological aspect: pericellular fibrosis, inflammatory infiltration, hepatocyte necrosis, absence of steatosis, poor regeneration and histochemical copper staining." "" + "IRVAN syndrome" "" + "idiopathic uveal effusion syndrome" "" + "idiopathic panuveitis" "Idiopathic panuveitis is a rare inflammatory eye disease, of unknown etiology, characterized by generalized inflammation of the uvea (iris, ciliary body, choroid), retina and vitreous with consequent ciliary spasm and posterior synechiae formation, leading to acute or chronic, unilateral or bilateral visual impairment and ocular discomfort or pain. Patients present an increased risk of development of cataracts, secondary glaucoma, cystoid macular edema and/or retinal detachment. It could potentially result in vision loss." "" + "phacoanaphylactic uveitis" "Intraocular inflammation occurring after extracapsular cataract extraction; probably an immune reaction to the patient's liberated lenticular proteins." "" + "non-infectious anterior uveitis" "" + "solitary rectal ulcer syndrome" "Solitary rectal ulcer syndrome (SRUS) is a rare rectal disease characterized by rectal bleeding, abdominal pain, passage of mucus, sensation of incomplete evacuation, straining at defecation and rectal prolapsed, secondary to ischemic changes in the rectum." "" + "benign familial nocturnal alternating hemiplegia of childhood" "Benign nocturnal alternating hemiplegia of childhood is a rare neurologic disease characterized by recurrent attacks of nocturnal screaming or crying followed or accompanied by unilateral or sometimes bilateral hemiplegia. Disorder is not associated with neurological or developmental impairments but may be associated with mild behavioral abnormalities." "" + "alternating hemiplegia" "" + "obsolete cyclosporosis" "" "true" + "leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome" "Leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome is a rare, syndromic nail anomaly disorder characterized by the association of leukonychia totalis with acanthosis-nigricans-like lesions (occurring in the neck, axillae and abdomen regions) and hair dysplasia, manifesting with dry, brittle hair which presents an irregular pattern of complete or incomplete twists and an irregular surface with londitudinal furrows on electronic microscopy." "" + "pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome" "Pulmonary fibrosis - hepatic hyperplasia - bone marrow hypoplasia, also named Btrimorphic syndromeB (i.e. three (inherited) morbidities, pulmonary, hepatic and cytopenia), is a rare disease reported in 4 cases to date, manifesting with idiopathic pulmonary fibrosis, hepatic nodular regenerative hyperplasia leading to portal hypertension and thrombocytopenia due to bone marrow hypoplasia. The condition was associated with 100% mortality." "" + "adult hepatocellular carcinoma" "Adult hepatocellular carcinoma is the most common primary liver cancer of adulthood. Derived from well-differentiated hepatocytes, it often develops from chronic liver cirrhosis which is most often due to hepatitis B and C virus or alcohol abuse. Symptoms are hepatic mass, abdominal pain and, in advanced stages, jaundice, cachexia and liver failure." "" + "mal de Debarquement" "Mal de debarquement (MdD) is a rare otorhinolaryngological disease characterized by a persistent sensation of motion such as rocking, swaying, tumbling and/or bobbing following a period of exposure to passive movement, usually an ocean cruise or other types of water, train, automobile or air travel and less commonly other movements (like sleeping on a waterbed). Onset may be spontaneous in some patients. Manifestations begin shortly after the stimulus, persist for 6 months to years and may be associated with anxiety, fatigue and impaired cognition. Symptoms are often accentuated when in an enclosed space or when attempting to be motionless (sitting, lying down or standing in a stationary position) and are relieved when in passive motion such as in a moving car, airplane or train." "" + "dysmorphism-pectus carinatum-joint laxity syndrome" "Dysmorphism-pectus carinatum-joint laxity syndrome is characterised by joint laxity, pectus carinatum and facial dysmorphism (mild frontal bossing, a beaked nose with a low nasal bridge, malar hypoplasia, chubby cheeks, a striking philtrum and arched upper lips). It has been described in two siblings. The mode of transmission is unknown." "" + "congenital temporomandibular joint ankylosis" "Congenital temporomandibular joint ankylosis is a rare maxillofacial disorder characterized by significant reduction in mouth opening (i.e. from a few millimeters to a few centimeters) in the absence of acquired factors (e.g. trauma, infection) contributing to the ankylosis. It is associated with variable degrees of facial dysmorphism (i.e. lateral deviation of the mandible and chin, lower facial asymmetry, retrognathia, micrognathia, dental malocclusion) and patients typically present with feeding and breathing difficulties. Developmental delay, hypotonia, seizures, and additional dysmorphic features (e.g. pectus excavatum, low-set ears, hypoplastic alae nasi) have also been reported." "" + "temporomandibular joint anomaly" "" + "spindle cell hemangioma" "Spindle cell hemangioma (SCH), also known as spindle cell hemangioendothelioma, is a rare benign vascular tumor either solitary or multiple, characterized by cavernous blood vessels separated by spindle cells reminiscent of those in KaposiBs sarcoma and located in the dermis and subcutis." "" + "specific learning disability" "Diagnosed when there are specific deficits in an individualbs ability to perceive or process information efficiently and accurately. This disorder first manifests during the years of formal schooling and is characterized by persistent and impairing difficulties with learning foundational academic skills in reading, writing, and/or math. The individualbs performance of the affected academic skills is well below average for age, or acceptable performance levels are achieved only with extraordinary effort. Specific learning disorder may occur in individuals identified as intellectually gifted and manifest only when the learning demands or assessment procedures (e.g., timed tests) pose barriers that cannot be overcome by their innate intelligence and compensatory strategies. For all individuals, specific learning disorder can produce lifelong impairments in activities dependent on the skills, including occupational performance. (from dsm-V)" "" + "obsolete rare vascular tumor" "Any of the forms of vascular neoplasm that have a rare incidence." "True" "true" + "obsolete rare venous malformation" "True" "true" + "obsolete rare lymphatic system malformation" "True" "true" + "obsolete rare arteriovenous malformation" "Rare arteriovenous malformation." "True" "true" + "kaposiform hemangioendothelioma" "Kaposiform hemangioendothelioma is a very rare, aggressive, vascular tumor manifesting in the neonatal period or in infancy as cutaneous vascular tumors to large infiltrative lesions." "" + "kaposiform lymphangiomatosis" "A generalized lymphatic anomaly characterized by kaposiform spindled lymphatic endothelial cells." "" + "diffuse neonatal hemangiomatosis" "Diffuse neonatal hemangiomatosis is a rare vascular tumor from unknown origin characterized by multiple, progressive, rapidly growing cutaneous hemangiomas (e.g. in the scalp, face, trunk and extremities) associated with widespread visceral hemangiomas in the liver, lungs, gastrointestinal tract, brain, and meninges." "" + "inborn disorder of lysosomal amino acid transport" "" + "hemoglobin C disease" "Hemoglobin C disease (HbC) is a hemoglobinopathy characterized by production of abnormal variant hemoglobin known as hemoglobin C, with no or mild clinical manifestations (hemolytic anemia)." "" + "hemoglobin E disease" "Hemoglobin E disease (HbE) is a hemoglobinopathy characterized by production of abnormal variant hemoglobin known as hemoglobin E, with a generally benign, asymptomatic presentation." "" + "obsolete ovarian cancer" "" "true" + "obsolete adenocarcinoma of ovary" "" "true" + "" "true" + "malignant non-epithelial tumor of ovary" "" + "hereditary site-specific ovarian cancer syndrome" "Hereditary site-specific ovarian cancer syndrome refers to ovarian cancer caused by germline mutations in various genes, usually associated with additional cancer risks. The most common are breast and ovarian cancer syndrome (HBOC) due to mutations in BRCA1 and BRCA2 genes and hereditary nonpolyposis colorectal cancer (HNPCC) due to mutations in DNA mismatch-repair genes. Mutations in STK11 gene, causing Peutz-Jeghers syndrome, are also associated with a risk of ovarian cancer (typically sex cord stromal tumors). Mutations in other genes, including RAD51C, RAD51D, PALB2, confer an elevated ovarian cancer risk in a minority of patients." "" + "obsolete rare adenocarcinoma of the breast" "Any of the forms of breast adenocarcinoma that have a rare incidence." "True" "true" + "salivary gland type cancer of the breast" "Salivary gland type cancer of the breast describes a group of uncommon neoplasms, usually seen in the salivary glands but occurring in the breast, with a variable clinicopathologic spectrum and divided into those with myoepithelial differentiation and those without. This group includes mammary adenoid cystic carcinoma, adenoid cystic carcinoma, mucoepidermoid carcinoma, acinic cell carcinoma, polymorphous low-grade adenocarcinoma and oncocytic carcinoma." "" + "obsolete rare uterine cancer" "Rare uterine cancer." "True" "true" + "obsolete rare variants of adenocarcinoma of the corpus uteri" "" "true" + "obsolete adenosarcoma of the corpus uteri" "" "true" + "uterine corpus carcinofibroma" "An uncommon malignant neoplasm arising from the uterine corpus. It is characterized by the presence of a malignant epithelial component and a benign mesenchymal (usually fibrous) component." "" + "carcinosarcoma of the corpus uteri" "An aggressive malignant mixed epithelial and mesenchymal tumor that arises from the uterine corpus. It usually affects elderly postmenopausal women and presents with vaginal bleeding. It is characterized by the presence of a malignant epithelial component that is usually glandular and a sarcomatous component." "" + "uterine corpus rhabdomyosarcoma" "A rare malignant heterologous neoplasm with skeletal muscle differentiation arising from the uterine corpus. It usually manifests with vaginal bleeding. The prognosis is poor." "" + "obsolete sarcoma of the corpus uteri" "" "true" + "primitive neuroectodermal tumor of the corpus uteri" "A primitive neuroectodermal tumor that involves the body of uterus." "" + "obsolete endometrial stromal sarcoma" "" "true" + "squamous cell carcinoma of the corpus uteri" "A squamous cell carcinoma that involves the body of uterus." "" + "undifferentiated carcinoma of the corpus uteri" "Undifferentiated carcinoma of the corpus uteri is a rare cancer of corpus uteri presenting as a large, polypoid, intraluminal mass with necrosis, composed of small to intermediate-size, relatively uniform, dyshesive cells displaying no differentiation. It usually presents with dysfunctional bleeding or vaginal discharge and, less often, abdominal pain. Association with Lynch syndrome was reported." "" + "papillary carcinoma of the corpus uteri" "A papillary carcinoma that involves the body of uterus." "" + "high-grade neuroendocrine carcinoma of the corpus uteri" "High-grade neuroendocrine carcinoma of the corpus uteri is an extremely rare, aggressive, primary uterine neoplasm, originating from neuroendocrine cells scattered within the endometrium, characterized, macroscopically, by a bulky, frequently polypoid, mass with abundant necrosis located in the uterus and, histologically, by rosette-like and cord-like structures consisting of small, rounded cells with oval nuclei and scarce cytoplasm. Patients often present with dysfunctional uterine bleeding, pelvic or abdominal mass and, especially in later stages of the disease, abdominal pain. Symptomatic metastatic spread or symptoms related to a paraneoplastic syndrome, such as retinopathy, or Cushing syndrome due to ectopic ACTH production, may be associated." "" + "uterine corpus neuroendocrine neoplasm" "An epithelial neoplasm with neuroendocrine differentiation that arises from the uterine corpus. It includes carcinoid tumor, small cell carcinoma pulmonary type, and large cell neuroendocrine carcinoma." "" + "low-grade neuroendocrine tumor of the corpus uteri" "Low-grade neuroendocrine tumor of the corpus uteri is an extremely rare uterine cancer typically characterized by a well demarcated, solid, frequently pedunculated tumor originating from neuroendocrine cells scattered within the endometrium, often associated with ectopic hormone production. Patients usually present with vaginal bleeding or discharge and a pelvic mass with a polypoid tumor sometimes protruding through the cervical canal. Symptoms related to ectopic hormone production (flushing, sweating, diarrhea, bronchospasm) may also develop." "" + "adenoid cystic carcinoma of the corpus uteri" "A adenoid cystic carcinoma that involves the body of uterus." "" + "transitional cell carcinoma of the corpus uteri" "A transitional cell carcinoma that involves the body of uterus." "" + "obsolete rare cancer of cervix uteri" "Rare cervical cancer." "True" "true" + "high-grade neuroendocrine carcinoma of the cervix uteri" "High-grade neuroendocrine carcinoma of the cervix uteri is a rare, aggressive, primary cervical neoplasm, originating from neuroendocrine cells present in the lining epithelium of the cervix, characterized, macroscopically, by usually large lesions, sometimes with a barrel-shaped appearance. Patients often present with abnormal vaginal bleeding or discharge, pelvic/abdominal pain, post-coital spotting and/or dysuria, while symptoms related to carcinoid syndrome are not frequent." "" + "obsolete carcinosarcoma of the cervix uteri" "Carcinosarcoma of the cervix uteri is a rare, malignant, mixed epithelial and mesenchymal tumor, located in the cervix uteri, composed of an admixture of carcinomatous and sarcomatous elements. It usually presents with abnormal vaginal bleeding and a round, well-defined, grey to yellowish-white, pedunculated polypoid mass protruding through the cervical canal. Association with HPV infection (especially serotype 16) has been frequently reported." "" "true" + "obsolete adenosarcoma of the cervix uteri" "Adenosarcoma of the cervix uteri is a rare subtype of malignant mixed epithelial and mesenchymal tumor composed of benign or mildly atypical glandular elements and a surrounding low-grade malignant stroma, often containing heterologous elements, such as areas of sex-cord-like or smooth muscle differentiation. It usually presents with vaginal bleeding or discharge, lower abdominal pain and/or a cervical mass or polyp. The tumor may arise from pre-existing endometriosis and patients may have a history of recurrent cervical polyps." "" "true" + "46,XX ovotesticular disorder of sex development" "46,XX ovotesticular disorder of sex development (46,XX ovotesticular DSD) is characterized by histologically confirmed testicular and ovarian tissue in an individual with a 46,XX karyotype." "" + "rhabdomyosarcoma of the cervix uteri" "A rare malignant neoplasm with skeletal muscle differentiation arising from the cervix." "" + "leiomyosarcoma of the cervix uteri" "Leiomyosarcoma of the cervix uteri is a rare, malignant mesenchymal tumor of smooth muscle origin, macroscopically appearing as a large, poorly circumscribed mass, often protruding from the cervical canal or expanding it circumferentially. The most common presenting symptoms are vaginal discharge or bleeding, pain in the lower abdomen and a bulky cervical mass. There is a reported tendency to metastatsize hematogenously, especially to the lungs, peritoneum, bones and the liver." "" + "primitive neuroectodermal tumor of the cervix uteri" "Primitive neuroectodermal tumor of the cervix uteri is a rare cancer of cervix uteri derived from neural crest cells, histologically composed of small, round neoplatic cells with variable degree of neural, glial and ependymal differentiation. Macroscopically, the tumor is often a large, soft, poorly circumscribed mass with infiltrative borders and necrotic areas. It presents with dysfuntional vaginal bleeding or discharge, lower abdominal pain and uterine enlargement." "" + "adenoid basal carcinoma of the cervix uteri" "A skin adenoid basal cell carcinoma that involves the uterine cervix." "" + "obsolete glassy cell carcinoma of the cervix uteri" "" "true" + "malignant germ cell tumor of cervix uteri" "A malignant germ cell tumor that involves the uterine cervix." "" + "Hernández-Aguirre Negrete syndrome" "A syndrome is characterized by major seizures, dysmorphic features (round face, bulbous nose, wide mouth, prominent philtrum), pes planus, psychomotor retardation and obesity. It has been described in five children (three boys and two girls, one of whom died in infancy) from two unrelated Mexican families. This condition is likely to be transmitted as an autosomal recessive trait." "" + "craniosynostosis, Herrmann-Opitz type" "Craniosynostosis, Herrmann-Opitz type is a rare bone development disorder characterized by intellectual disability, short stature, turribrachycephaly, facial dysmorphism (i.e. severe hypertelorism, hypoplasia of supraorbital ridges, abnormal ears, and micrognathia), bony defects of the occiput, and digital anomalies (incl. syndactyly, oligodactyly, and/or brachydactyly). Urethral atresia has also been reported. There have been no further descriptions in the literature since 1987." "" + "Hirschsprung disease-type D brachydactyly syndrome" "Hirschsprung disease-type D brachydactyly syndrome is characterized by Hirschsprung disease and absence or hypoplasia of the nails and distal phalanges of the thumbs and great toes (type D brachydactyly). It has been described in four males from one family (two brothers and two maternal uncles). Transmission appears to be X-linked recessive but autosomal dominant inheritance with incomplete penetrance in females can not be ruled out." "" + "nonsyndromic genetic hearing loss" "A disease characterized by hearing loss that is not part of a larger syndrome." "" + "holoprosencephaly-caudal dysgenesis syndrome" "Holoprosencephaly-caudal dysgenesis syndrome is a central nervous system malformation syndrome characterized by holoprosencephaly with microcephaly, abnormal eye morphology (hypotelorism, cyclopia, exophthalmos), nasal anomalies (single nostril or absent nose), and cleft lip/palate, combined with signs of caudal regression (sacral agenesis, sirenomelia with absent external genitalia)." "" + "obsolete transposition of the great arteries" "" "true" + "congenitally corrected transposition of the great arteries" "Congenitally corrected transposition (CCT) of the great vessels is a rare cardiac malformation characterized by the combination of discordant atrioventricular and ventriculo-arterial connections, usually accompanied by other cardiovascular malformations." "" + "isolated congenitally uncorrected transposition of the great arteries" "" + "congenitally uncorrected transposition of the great arteries with cardiac malformation" "" + "classic pantothenate kinase-associated neurodegeneration" "" + "atypical pantothenate kinase-associated neurodegeneration" "" + "Niemann-Pick disease type C, severe perinatal form" "" + "Niemann-Pick disease type C, severe early infantile neurologic onset" "" + "Niemann-Pick disease type C, late infantile neurologic onset" "" + "Niemann-Pick disease type C, juvenile neurologic onset" "" + "Niemann-Pick disease type C, adult neurologic onset" "" + "Bockenheimer syndrome" "" + "5-fluorouracil poisoning" "5-fluorouracil (5-FU) poisoning is a rare intoxication caused by the prolonged, low-dose administration of 5-FU, which is the mainstay of both adjuvant and advanced-disease chemotherapy regimens in colon cancer. 5-FU poisoning is characterized by gastrointestinal (nausea, emesis, diarrhea, anorexia, stomatitis) and hematologic (myelosuppression) toxicities as well as mucositis, alopecia and, occasionally, palmar-plantar dysesthesia (more commonly known as hand-foot syndrome). Women have been reported to experience more 5-FU-related toxicity than men." "" + "poisoning" "A condition or physical state produced by the ingestion, injection, inhalation of or exposure to a deleterious agent." "" + "obsolete renal cell carcinoma" "" "true" + "obsolete rare carcinoma of pancreas" "Rare pancreatic carcinoma." "True" "true" + "mucopolysaccharidosis type 2, severe form" "Mucopolysaccharidosis type 2 (MPS2), severe form (MPS2S), is associated with a massive accumulation of glycosaminoglycans and a wide variety of symptoms including a rapidly progressive cognitive decline; it is most often fatal in the second or third decade." "" + "mucopolysaccharidosis type 2, attenuated form" "Mucopolysaccharidosis type 2, attenuated form (MPS2att), the less severe form of MPS2, leads to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive facies, short stature, cardiorespiratory and skeletal findings. It is differentiated from mucopolysaccharidosis type 2, severe form by the absence of cognitive decline." "" + "limbic encephalitis with NMDA receptor antibodies" "Limbic encephalitis with anti-N-methyl-D-aspartate (NMDA) receptor antibodies is a recently described type of encephalitis affecting young women with teratoma of ovary and associated with antibodies that react with neuronal cell surface auto-antigens." "" + "progressive multifocal leukoencephalopathy" "Progressive multifocal leukoencephalopathy (PML) is a neurological disorder that damages the myelin that covers and protects nerves in the white matter of the brain. It is caused by the JC virus (JCV). By age 10, most people have been infected with this virus, but itrarelycauses symptoms unless the immune system becomes severely weakened.The disease occurs, rarely, in organ transplant patients; people undergoing chronic corticosteroid or immunosuppressive therapy; and individuals with cancer, such as Hodgkins disease, lymphoma, and sarcoidosis. PML is most common among individuals with acquired immune deficiency syndrome (AIDS)." "" + "congenital insensitivity to pain with hyperhidrosis" "" + "obsolete rare hereditary thrombophilia" "True" "true" + "pulmonary interstitial glycogenosis" "Pulmonary interstitial glycogenosis (PIG) is a rare non-lethal pediatric form of interstitial lung disease (ILD)." "" + "interstitial lung disease specific to infancy" "" + "neuroendocrine cell hyperplasia of infancy" "Neuroendocrine cell hyperplasia of infancy (NCHI) is a non-lethal pediatric form of interstitial lung disease (ILD) characterized by tachypnea without respiratory failure." "" + "chronic respiratory distress with surfactant metabolism deficiency" "" + "primary interstitial lung disease in childhood and adulthood due to alveolar structure disorder" "True" + "obsolete hypertrophic cardiomyopathy" "" "true" + "obsolete familial syndrome associated with hypertrophic cardiomyopathy" "" "true" + "infantile systemic hyalinosis" "Infantile systemic hyalinosis (ISH) is a very rare disorder belonging to the heterogeneous group of genetic fibromatoses and is characterized by progressive joint contractures, skin abnormalities, severe chronic pain and widespread deposition of hyaline material in many tissues such as the skin, skeletal muscle, cardiac muscle, gastrointestinal tract, lymph nodes, spleen, thyroid, and adrenal glands." "" + "hypertrophic cardiomyopathy due to intensive athletic training" "" + "non-familial dilated cardiomyopathy" "" + "obsolete restrictive cardiomyopathy" "" "true" + "obsolete unclassified cardiomyopathy" "" "true" + "hydranencephaly" "A rare congenital brain disorder in which the cerebral hemispheres are absent and replaced by sacs that contain cerebrospinal fluid. Signs and symptoms include irritability, increased muscle tone, seizures, and hydrocephalus. The prognosis is poor." "" + "hydrocephalus-obesity-hypogonadism syndrome" "This syndrome is characterized by the association of congenital hydrocephalus, centripetal obesity, hypogonadism, intellectual deficit and short stature." "" + "obsolete rare cardiac rhythm disease" "A rare form of cardiac rhythm disease." "True" "true" + "hydrocephalus-blue sclerae-nephropathy syndrome" "Hydrocephalus-blue sclera-nephropathy syndrome is a rare, genetic, renal or urinary tract malformation syndrome characterized by nephrotic syndrome with focal segmental sclerosis associated with hydrocephalus, thin skin and blue sclerae. There have been no further descriptions in the literature since 1978." "" + "anti-HLA hyperimmunization" "Anti-HLA hyperimmunization is an increase in anti-HLA antigens mostly seen in chronic renal failure (CRF) patients that have undergone hemodialysis and polytransfusion." "" + "palmoplantar keratoderma-spastic paralysis syndrome" "" + "diffuse cutaneous systemic sclerosis" "Diffuse cutaneous systemic sclerosis (dcSSc) is a subtype of Systemic Sclerosis (SSc) characterized by truncal and acral skin fibrosis with an early and significant incidence of diffuse involvement (interstitial lung disease, oliguric renal failure, diffuse gastrointestinal disease, and myocardial involvement)." "" + "dysplastic cortical hyperostosis" "" + "limited cutaneous systemic sclerosis" "Limited cutaneous systemic sclerosis (lcSSc) is a subtype of systemic sclerosis (SSc) characterized by the association of Raynaud's phenomenon with skin fibrosis limited to the hands, face, feet and forearms." "" + "limited systemic sclerosis" "Limited systemic sclerosis (lSSc) (or SSc sine scleroderma) is a subset of systemic sclerosis (SSc) characterized by organ involvement in the absence of fibrosis of the skin." "" + "marcothrombocytopenia with mitral valve insufficiency" "Macrothrombocytopenia with mitral valve insufficiency is a rare hemorrhagic disorder due to a platelet anomaly characterized by dysfunctional platelets of abnormally large size, moderate thrombocytopenia, prolonged bleeding time and mild bleeding diathesis (ecchymoses and epistaxis), associated with mitral valve insufficiency." "" + "classic or attenuated familial adenomatous polyposis" "An inherited diseases haracterized by the development of adenomas in the rectum and colon; classified into classic FAP and attenuated FAP." "" + "obsolete rare hereditary hemochromatosis" "Rare hereditary hemochromatosis comprises the rare forms of hereditary hemochromatosis (HH), a group of diseases characterized by excessive tissue iron deposition. These rare forms are hemochromatosis type 2 (juvenile), type 3 (TFR2-related), and type 4 (ferroportin disease). Hemochromatosis type 1 (also called classic hemochromatosis) is not a rare disease." "True" "true" + "tumor of parathyroid gland" "A neoplasm (disease) that involves the parathyroid gland." "" + "maternal phenylketonuria" "Maternal phenylketonuria (PKU) is a rare disorder of phenylalanine metabolism, an inborn error of amino acid metabolism, characterized by the development of microcephaly, growth retardation, congenital heart disease, facial dysmorphism and intellectual disability in nonphenylketonuric offspring of mothers with excess phenylalanine (Phe) concentrations." "" + "polymyositis" "Polymyositis (PM) is a rare idiopathic inflammatory myopathy characterized by symmetric proximal muscle weakness and elevated muscle enzymes." "" + "Rothmund-Thomson syndrome type 1" "Rothmund-Thomson syndrome type 1 is a subform of Rothmund-Thomson syndrome (RTS) presenting with a characteristic facial rash (poikiloderma) and frequently associated with short stature, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, and rapidly progressive bilateral juvenile cataracts. In contrast to RTS2, patients with RTS1 do not appear to have an increased risk of developing cancer." "" + "Rothmund-Thomson syndrome type 2" "Rothmund-Thomson syndrome type 2 is a subform of Rothmund-Thomson syndrome (RTS) presenting with a characteristic facial rash (poikiloderma) and frequently associated with short stature, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, congenital bone defects and an increased risk of osteosarcoma in childhood and squamous cell carcinoma later in life." "" + "disease with potential neoplastic degeneration associated with ocular features" "True" + "Marchiafava-Bignami disease" "Marchiafava Bignami disease is defined by characteristic demyelination of the corpus callosum (erosion of the protective covering of nerve fibers joining the 2 hemispheres of the brain). The disease seems to most often affect severe and chronic alcoholics in their middle or late adult life. Early symptoms may include depression, paranoia, psychosis, or dementia. Seizures are common, and hemiparesis, aphasia, abnormal movements, and ataxia may sometimesprogress to coma and/or death. The cause of Marchiafava Bignami disease, including the potential role of nutritional deficiency, remains unknown. Improvement and recovery of some individuals has been reported. Treatment focuses on nutritional support and rehabilitation from alcoholism." "" + "combined hyperactive dysfunction syndrome of the cranial nerves" "" + "glossopharyngeal neuralgia" "Glossopharyngeal neuralgia is a condition characterized by repeated episodes of severe pain in the tongue, throat, ear, and tonsils (areas connected to the ninth cranial nerve, or glossopharyngeal nerve). It typically occurs in individuals over age 40. Episodes of pain may last from a few seconds to a few minutes, and usually occur on one side. The pain may be triggered by swallowing, speaking, laughing, chewing or coughing. The condition is thought to be due to irritation of the nerve, although the source of irritation is unclear. The goal of treatment is to control pain, but over-the-counter pain medications are not very effective; the most effective drugs are anti-seizure medications. Some antidepressants help certain people. Surgery to cut or take pressure off of the glossopharyngeal nerve may be needed in severe cases." "" + "isolated facial myokymia" "" + "confetti-like macular atrophy" "" + "acquired dermis elastic tissue disorder with decreased elastic tissue" "True" + "maternal hyperthermia induced birth defects" "Maternal hyperthermia induced birth defects is a rare maternal disease-related embryofetopathy characterized by variable developmental anomalies of the fetus due to teratogenic effect of elevated maternal body temperature (resulting from febrile illness or hot environment exposure). Reported developmental anomalies include neural tube defects (spina bifida, ecephalocele, anencephaly), cardiac defects (transposition of great vessels), urogenital defects (hypospadias), abdominal wall defects, cleft lip/palate, eye defects (cataract, coloboma) or various minor anomalies (e.g., bifid uvula, preauricular pit or tag). Consensus regarding cause-effect relationship has not been reached." "" + "erosive pustular dermatosis of the scalp" "Erosive pustular dermatosis of the scalp is a rare chronic inflammation of the scalp usually occurring in elderly women (>70 years old) and characterized by the development of painful pustules, shallow erosions, and crusting on atrophic skin that eventually result in cicatricial alopecia." "" + "acquired hypertrichosis lanuginosa" "Acquired hypertrichosis lanuginosa is a rare cutaneous paraneoplastic disease characterized by the presence of excessive lanugo-type hair on the glabrous skin of face, neck, trunk and limbs that can be associated with additional clinical features such as burning glossitis, papillary hypertrophy of the tongue, diarrhea, dysgeusia, and/or weight loss. It is associated with lymphoma or cancer of the gastrointestinal system, urinary tract, lung, breast, uterus or ovary." "" + "obsolete eyebrow/eyelashes hypertrichosis" "" "true" + "hypogonadotropic hypogonadism-frontoparietal alopecia syndrome" "This syndrome is characterized by the association of hypogonadotropic hypogonadism and frontoparietal alopecia." "" + "hypogonadism-mitral valve prolapse-intellectual disability syndrome" "This syndrome is characterized by the association of hypogonadism due to primary gonadal failure, mitral valve prolapse, mild intellectual deficit and short stature." "" + "hypogonadotropic hypogonadism-retinitis pigmentosa syndrome" "This syndrome is characterized by the association of hypogonadotropic hypogonadism (with primary amenorrhea and lack of secondary sexual development) and retinitis pigmentosa. It has been described in two sisters born to nonconsanguineous parents." "" + "obsolete bone sarcoma" "" "true" + "obsolete lymphoma" "" "true" + "cerebellar hypoplasia-tapetoretinal degeneration syndrome" "Cerebellar hypoplasia-tapetoretinal degeneration syndrome is a rare syndrome with a cerebellar malformation as a major feature characterized by cerebellar hypoplasia, bilateral retinal pigmentary changes, intellectual disability that can range from mild to moderate and pronounced language development delay. It presents with early developmental delay, central and peripheral non-progressive visual impairment or asymptomatic retinal changes, hypotonia, non-progressive ataxia and nystagmus." "" + "hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome" "This syndrome is characterized by the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism." "" + "sporadic infantile bilateral striatal necrosis" "Sporadic infantile bilateral necrosis is the sporadic form of infantile bilateral striatal necrosis (IBSN), a syndrome of bilateral symmetric spongy degeneration of the caudate nucleaus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis." "" + "foveal hypoplasia-presenile cataract syndrome" "" + "obsolete metabolic neurotransmission anomaly with epilepsy" "" "true" + "obsolete other metabolic disease with epilepsy" "True" "true" + "oligomeganephronia" "Oligomeganephronia is a developmental anomaly of the kidneys, and the most severe form of renal hypoplasia, characterized by a reduction of 80% in nephron number and a marked hypertrophy of the glomeruli and tubules." "" + "primary congenital hypothyroidism" "Primary congenital hypothyroidism is a type of permanent congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth." "" + "hypothyroidism due to deficient transcription factors involved in pituitary development or function" "Hypothyroidism due to mutations in transcription factors involved in pituitary development or function is a type of central congenital hypothyroidism, a permanent thyroid deficiency that is present from birth, characterized by low levels of thyroid hormones caused by disorders in the development or function of the pituitary." "" + "congenital hypothyroidism due to maternal intake of antithyroid drugs" "" + "hypotrichosis-intellectual disability, Lopes type" "Hypotrichosis-intellectual disability, Lopes type is characterised by hypotrichosis, syndactyly, intellectual deficit and early eruption of teeth. It has been described in two patients. The mode of transmission appears to be autosomal recessive." "" + "obsolete immunodeficiency-centromeric instability-facial anomalies syndrome" "" "true" + "diphallia" "" + "congenital ichthyosis-microcephalus-tetraplegia syndrome" "" + "multiple system atrophy, cerebellar type" "Multiple system atrophy, cerebellar type (MSA-c) is a form of multiple system atrophy (MSA) with predominant cerebellar features (gait and limb ataxia, oculomotor dysfunction, and dysarthria)." "" + "toxic oil syndrome" "Toxic oil syndrome is a rare intoxication, due to consumption of a rapeseed oil denatured with aniline 2%, characterized by generalized vascular lesions affecting all organs and vessels (including veins and arteries) and presenting with severe incapacitating myalgias, marked peripheral eosinophilia and pulmonary infiltrates." "" + "autoimmune polyendocrinopathy type 3" "Autoimmune polyendocrinopathy type 3 is a rare, endocrine disease characterized by autoimmune thyroid disease associated with at least one other autoimmune disease, such as type I diabetes mellitus, chronic atrophic gastritis, pernicious anemia, vitiligo, alopecia, or myasthenia gravis, but excluding Addison disease." "" + "autoimmune polyendocrinopathy type 4" "" + "progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome" "Progressive sensorineural hearing loss - hypertrophic cardiomyopathy is an extremely rare disorder described in one family to date that is characterized by progressive, late onset, autosomal dominant sensorineural hearing loss, QT interval prolongation, and mild cardiac hypertrophy." "" + "Hughes-Stovin syndrome" "Hughes-Stovin syndrome (HSS) is a life-threatening disorder, believed to be a cardiovascular clinical variant manifestation of BehC'et's disease (BD). It is characterized by the association of multiple pulmonary artery aneurysms (PAAs) and peripheral venous thrombosis." "" + "fusariosis" "Fusariosis describes a superficial, locally invasive, disseminated infection with the pathogenic fungus species, Fusarium, often found in soil and water, which is mainly transmitted to humans through traumatic inoculation and that manifests with keratitis, onychomycosis and less frequently peritonitis and cellulitis. In the immunocompromised, disseminated fusariosis is more common and it manifests with refractory fever, skin lesions (ecthyma-like, target, and multiple subcutaneous nodules), severe myalgias and sino-pulmonary infections." "" + "obsolete coccidioidomycosis" "" "true" + "Marburg acute multiple sclerosis" "Marburg acute multiple sclerosis is a rare variant of multiple sclerosis characterized by a rapidly progressive, aggressive form of multiple sclerosis with numerous large multifocal demyelinating lesions in deep white matter on cerebral MRI that usually leads to severe disability or death within weeks to months without remission. A relapsing form of multiple sclerosis is observed in surviving patients." "" + "Balo concentric sclerosis" "Tumefactive multiple sclerosis is characterized by a tumor-like lesion larger than two centimeters and signs and symptoms similar to those of a brain tumor. It is a rare form of multiple sclerosis (MS). Symptoms of tumefactive MS often differ from other MS cases and may include, headaches, changes in thinking, confusion, speech problems, seizures, and weakness. The cause of tumefactive MS is not known. It often develops into the relapsing-remitting form of MS. In other cases there is only one occurrence of the condition. In still others the disease process remains less clear. While there is no cure for tumefactive MS, treatments such as corticosteroids are available to decrease disease activity." "" + "autosomal dominant Charcot-Marie-Tooth disease type 2M" "Autosomal dominant Charcot-Marie-Tooth disease type 2M (CMT2M) is a form of axonal Charcot-Marie-Tooth disease, a peripheral motor and sensory neuropathy. CMT2M is characterized by congenital pstosis and early cataract associated to a mildly progressive peripheral neuropathy of variable onset from birth to the 6th decade, pes cavus, reduced to absent ankles tendon reflexes and sometimes neutropenia." "" + "dysmorphism-short stature-deafness-disorder of sex development syndrome" "Dysmorphism-short stature-deafness-disorder of sex development syndrome is characterized by dysmorphism (including facial asymmetry, arched eyebrows, hypertelorism, broad and flat nasal bridge, microtia, small nose with anteverted nostrils, micrognathia), deafness, cleft palate, male pseudohermaphroditism, and growth and psychomotor retardation. It has been described in two siblings. It is transmitted as an autosomal recessive trait." "" + "acquired dermis elastic tissue disorder" "An instance of dermis elastic tissue disorder that is acquired during the lifetime of the individual." "" + "late-onset focal dermal elastosis" "Late-onset focal dermal elastosis is a rare, acquired, dermis elastic tissue disorder characterized by a pseudoxanthoma elasticum-like papular eruption consisting of multiple, slowly progressive, asymptomatic, 2-5 mm, white to yellowish, non-follicular papules (that tend to form cobblestone plaques) predominantly distributed over the neck, axillae and flexural areas, with no systemic involvement. Skin biopsy reveals a focal increase of normal-appearing elastic tissue in the reticular dermis with no calcium deposits." "" + "linear focal dermal elastosis" "Linear focal elastosis is a rare, acquired, dermis elastic tissue disorder characterized by asymptomatic, palpable, hypertrophic or atrophic, yellowish or red, indurated, horizontal, striae-like linear plaques distributed symmetrically across the mid and lower back. No systemic involvement has been described. Skin biopsy reveals a focal increase in abnormal elastic tissue with abundant, wavy, fragmented and aggregated, basophilic elastic fibers in the reticular dermis." "" + "elastoderma" "Elastoderma is a rare condition that affects the skin. People affected by elastoderma generally have increased laxity of skin covering a specific area of the body. Decreased recoil of the skin has also been reported. Although any part of the body can be affected, the skin of the neck and extremities (arms and legs, especially at the elbows and/or knees) are most commonly involved. The exact underlying cause is currently unknown; however, it generally occurs sporadically in people with no family history of the condition. There is no standard therapy available for elastoderma. Some cases have been treated with surgical excision (removal of affected skin), but hyperlaxity of skin often returns following the surgery." "" + "elastofibroma dorsi" "A benign, slow-growing tumor arising from the soft tissues usually in the mid-thoracic region of the elderly. It is characterized by the presence of paucicellular collagenous tissue, adipocytes and a predominance of large coarse elastic fibers arranged in globules." "" + "acquired pseudoxanthoma elasticum" "A nonheritable form of pseudoxanthoma elasticum (PXE), lacking the retinal and vascular stigmata associated with the inherited form of the disorder, but having skin lesions that are clinically, histologically, and ultrastructurally similar to those seen in the inherited type." "" + "elastoma" "" + "papular elastorrhexis" "An acquired form of collagenoma that appears in childhood. It is characterized by discrete, firm, skin-colored, and slightly elevated cutaneous papules, nodules or plaques that may be generalized, or found on the trunk and the extremities." "" + "primary anetoderma" "Primary anetoderma is a rare skin disease characterized by loss of elastin tissue resulting in localized areas of flaccid skin in the absence of a secondary cause." "" + "familial anetoderma" "Familial anetoderma is an extremely rare genetic skin disease characterized by loss of elastin tissue leading to localized areas of flaccid skin and a family history of the disorder." "" + "acquired cutis laxa" "An instance of cutis laxa that is acquired during the lifetime of the individual." "" + "white fibrous papulosis of the neck" "White fibrous papulosis of the neck (WFPN) is a rare, acquired, dermal elastic tissue disorder characterized by multiple, 2-3 mm sized, non-confluent, asymptomatic, white or pale-colored, non-follicular, firm papular lesions occurring predominantly on the lateral or posterior aspects of the neck. Other, rarely reported sites include inferior axillae, central mid-back and upper sternal region." "" + "pseudoxanthoma elasticum-like papillary dermal elastolysis" "Pseudoxanthoma elasticum-like papillary dermal elastolysis (PXE-PDE) is a rare, acquired, idiopathic dermal tissue disorder characterized by numerous, asymptomatic, 2-3 mm, yellowish, non-follicular papules that tend to converge into cobblestone-like plaques which are distributed symmetrically over the posterior neck, supraclavicular region, axillae, and sometimes abdomen. Unlike PXE, these skin lesions show select elimination (absence or marked loss) of elastic fibers in the papillary dermis and there is no systemic involvement." "" + "mid-dermal elastolysis" "" + "autoimmune hemolytic anemia, cold type" "Cold autoimmune hemolytic anemia comprises two types of autoimmune hemolytic anemia (AIHA) defined by the presence of cold autoantibodies (autoantibodies which are active at temperatures below 30B0C): cold agglutinin disease (CAD), which is the more common, and paroxysmal cold hemoglobinuria (PCH)." "" + "idiopathic hypersomnia with long sleep time" "Idiopathic hypersomnia with long sleep time is a sleep disorder characterized by good quality night rest of 10 hours or more, excessive daytime drowsiness that is more or less continual with long episodes of non-restorative sleep, and difficult waking with sleep drunkenness or sleep inertia." "" + "idiopathic hypersomnia" "Idiopathic hypersomnia is a sleep disorder classified in two forms: idiopathic hypersomnia with long sleep time and idiopathic hypersomnia without long sleep time." "" + "idiopathic hypersomnia without long sleep time" "Idiopathic hypersomnia without long sleep time is a sleep disorder characterized almost entirely by constant excessive daytime drowsiness lasting more than 3 months, with involuntary more or less restorative daytime naps. Night rest is of normal length or slightly prolonged but is less than 10 hours in duration, with often normal awakening." "" + "foodborne botulism" "Foodborne botulism is the most common form of botulism, a rare acquired neuromuscular junction disease with descending flaccid paralysis due to botulinum neurotoxins (BoNTs). It is caused by consumption of contaminated food containing BoNTs." "" + "severe early-onset axonal neuropathy due to NEFL deficiency" "Charcot-Marie-Tooth disease type 2B5 is a rare axonal hereditary motor and sensory neuropathy characterized by infantile onset of slowly progressive distal motor weakness and atrophy (more severe in legs and moderate in arms) with mildly delayed motor development, hypotonia, and distal sensory impairment of all sensory modalities." "" + "virus-associated trichodysplasia spinulosa" "Virus-associated trichodysplasia spinulosa is a rare infectious skin disease characterized by the development of follicular papules with keratin spicules in various parts of the body, predominantly in the face (e.g. nose, eyebrows, auricles), that is due to polyomavirus infection in immunocompromized patients." "" + "5q14.3 microdeletion syndrome" "The newly described 5q14.3 microdeletion syndrome includes severe intellectual deficit with no speech, stereotypic movements and epilepsy." "" + "ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome" "Ptosis - upper ocular movement limitation - absence of lacrimal punctum is a recently described association of absence of the lower lid lacrimal punctum, bilateral ptosis, elevation deficiency of both eyes and mild facial dysmorphism." "" + "8q12 microduplication syndrome" "The newly described 8q12 microduplication syndrome is associated with unusual and characteristic multi-organ clinical features, which include hearing loss, congenital heart defects, intellectual disability, hypotonia in infancy, and Duane anomaly." "" + "2q23.1 microdeletion syndrome" "The newly described 2q23.1 microdeletion syndrome includes severe intellectual deficit with pronounced speech delay, behavioral abnormalities including hyperactivity and inappropriate laughter, short stature and seizures." "" + "polyvalvular heart disease syndrome" "Polyvalvular heart disease syndrome is a recently described syndrome characterized by the combination of polyvalvular heart disease, short stature, facial anomalies and intellectual deficit." "" + "5q35 microduplication syndrome" "The newly described 5q35 microduplication syndrome is associated with microcephaly, short stature, developmental delay and delayed bone maturation." "" + "insulin-resistance syndrome type B" "Type B insulin-resistance syndrome belongs to the group of extreme insulin-resistance syndromes (which includes leprechaunism, the lipodystrophies, Rabson-Mendenhall syndrome, and type A insulin resistance syndrome) and occurs in the context of immune dysfunction." "" + "obsolete multiple intestinal atresia" "" "true" + "asbestosis" "A lung disorder caused by inhalation of asbestos fibers. It results in fibrosis of the lung parenchyma. Signs and symptoms include coughing, shortness of breath and chest pain." "" + "isotretinoin syndrome" "Isotretinoin embryopathy is an association of malformations caused by the teratogenic effect of isotretinoin, an oral synthetic vitamin A derivative, which is used to treat severe recalcitrant cystic acne. Exposure to isotretinoin during the first trimester of pregnancy has been associated with an increased risk of spontaneous abortions and severe birth defects including serious craniofacial (microcephaly, asymmetric crying facies, microphthalmia, developmental abnormalities of the external ear, ocular hypertelorism), cardio vascular (conotruncal heart defects, aortic arch abnormalities), and central nervous system (hydrocephalus, microcephaly, lissencephaly, Dandy-Walker malformation, cognitive deficit) anomalies and thymic aplasia. Isoretinoin is contraindicated during pregnancy." "" + "Ehlers-Danlos syndrome, vascular-like type" "Ehlers-Danlos, vascular-like type is an adult-onset form of Ehlers-Danlos syndrome characterized by spontaneous dissection of medium-sized arteries during young adulthood, including mainly the iliac, femoral, and renal arteries." "" + "Ehlers-Danlos/osteogenesis imperfecta syndrome" "Ehlers-Danlos/osteogenesis imperfecta syndrome is an association of the features of Ehlers-Danlos syndrome and osteogenesis imperfecta, characterized by generalized joint hypermobility and dislocations, skin hyperextensibility and/or translucency, and easy bruising as the predominant clinical features, while being invariably associated with mild signs of osteogenesis imperfecta, including short stature, blue sclera, and osteopenia or fractures." "" + "dracunculiasis" "Dracunculiasis (Guinea worm disease) is a neglected tropical disease (NTD) characterized by a painful burning skin lesion from which the Dracunculus medinensis parasite emerges approximately 1 year after infection resulting from consumption of unsafe drinking water containing parasite-infected copepods (Cyclops spp., microcrustacea also called water fleas)." "" + "drug-induced lupus erythematosus" "An autoimmune disorder, similar to systemic lupus erythematosus, that is caused by certain drugs." "" + "Beckwith-Wiedemann syndrome due to imprinting defect of 11p15" "" + "Beckwith-Wiedemann syndrome due to CDKN1C mutation" "" + "Beckwith-Wiedemann syndrome due to 11p15 microdeletion" "" + "Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion" "" + "silver-Russell syndrome due to 7p11.2p13 microduplication" "" + "partial duplication of the short arm of chromosome 7" "Chromosome 7p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 7. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 7p duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Most cases are not inherited, but people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person." "" + "silver-Russell syndrome due to an imprinting defect of 11p15" "" + "silver-Russell syndrome due to 11p15 microduplication" "" + "partial duplication of the short arm of chromosome 11" "" + "silver-Russell syndrome due to maternal uniparental disomy of chromosome 11" "" + "uniparental disomy of maternal origin" "" + "beta-thalassemia major" "Beta-thalassemia (BT) major is a severe early-onset form of BT characterized by severe anemia requiring regular red blood cell transfusions." "" + "beta-thalassemia intermedia" "Beta-thalassemia (BT) intermedia is a form of BT characterized by mild to moderate anemia which does not or only occasionally requires transfusion." "" + "beta-thalassemia associated with another hemoglobin anomaly" "Beta-thalassemias associated with hemoglobin (Hb) anomalies result in a variable clinical spectrum, ranging from asymptomatic to severe, depending on the severity of the thalassemia mutation and on the type of the Hb anomaly [hereditary persistence of fetal Hb, delta-beta-thalassemia, Hb C - beta-thalassemia, Hb E - beta-thalassemia and Hb S - beta-thalassemia ]." "True" + "beta-thalassemia and related diseases" "" + "delta-beta-thalassemia" "Delta-beta-thalassemia is a form of beta-thalassemia characterized by decreased or absent synthesis of the delta- and beta-globin chains with a compensatory increase in expression of fetal gamma-chain synthesis." "" + "hemoglobin C-beta-thalassemia syndrome" "Hemoglobin C - beta-thalassemia (HbC - BT) is a form of beta-thalassemia resulting in moderate hemolytic anemia." "" + "hemoglobin E-beta-thalassemia syndrome" "Hemoglobin E - beta-thalassemia (HbE - BT) is a form of beta-thalassemia that results in a mild to severe clinical presentation ranging from a condition indistinguishable from beta-thalassemia major to a mild form of beta-thalassemia intermedia." "" + "variant of Guillain-Barre syndrome" "" + "functional variant of Guillain-Barre syndrome" "" + "pharyngeal-cervical-brachial variant of Guillain-Barre syndrome" "" + "paraparetic variant of Guillain-Barre syndrome" "Paraparetic variant of Guillain-Barré syndrome is a rare variant of Guillain-Barré syndrome characterized by isolated leg weakness, areflexia and radicular leg pain that may simulate a cauda equina or spinal cord syndrome. The arms, ocular, facial, and oropharyngeal muscles are spared, and sphincteric function is normal." "" + "acute pure sensory neuropathy" "" + "acute pandysautonomia" "Acute pandysautonomia is a rare variant of Guillain-Barré syndrome characterized by acute post-ganglionic sympathetic and parasympathetic failure presenting several weeks after acute infection with gastrointestinal symptoms (abdominal pain, vomiting, constipation, diarrhea, gastroparesis, ileus), orthostatic hypotension, erectile dysfunction, urinary frequency, urgency or retention, vasomotor instability with acrocyanosis and reduced salivation, lacrimation and sweating." "" + "acute sensory ataxic neuropathy" "Acute sensory ataxic neuropathy is a rare variant of Guillain-Barré syndrome characterized by acute onset monophasic sensory neuropathy with diminished or absent tendon reflexes, loss of proprioception, positive Romberg sign and nerve conduction features of demyelination. It presents several weeks after acute infection with paresthesias, ataxia and neuropathic pain." "" + "congenital erosive and vesicular dermatosis" "" + "primary unilateral adrenal hyperplasia" "Primary unilateral adrenal hyperplasia (PUAH) is a surgically-correctable form of primary (hyper) aldosteronism (PA) characterized by renin suppression, unilateral aldosterone hypersecretion, and moderate to severe hypertension secondary to hyperplasia of the adrenal gland." "" + "ectopic aldosterone-producing tumor" "Ectopic aldosterone-producing tumor is an extremely rare aldosterone-producing neoplasm composed of aberrant adrenocortical tissue located outside the adrenal glands (e.g. in retroperitoneum, perirenal or periaortic fatty tissue, thorax, spinal canal, testes, ovaries) typically characterized by symptoms related to increased aldosterone levels (such as sustained, treatment-resistant hypertension and hypokalemia) or symptoms caused by local tumor enlargement." "" + "obsolete rare surgically correctable form of primary aldosteronism" "Surgically correctable forms of primary aldosteronism (also known as primary hyperaldosteronism) are characterized by unilateral aldosterone hypersecretion and renin suppression, associated with varying degrees of hypertension and hypokalemia." "True" "true" + "obsolete rare non surgically correctable form of primary aldosteronism" "True" "true" + "microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome" "" + "epibulbar lipodermoid-preauricular appendage-polythelia syndrome" "Epibulbar lipodermoid B preauricular appendages B polythelia is a branchial arch syndrome described in seven sibs of one Danish family and characterized by supernumerary nipples (polythelia), preauricular appendages and often binocular epibulbar lipodermoids or unilateral subconjunctival lipodermoids." "" + "epidermolysis bullosa simplex with anodontia/hypodontia" "" + "Kallmann syndrome-heart disease syndrome" "Kallmann syndrome with cardiopathy is characterised by hypogonadotropic hypogonadism associated with gonadotropin-releasing hormone (GnRH) deficiency, anosmia or hyposmia (with hypoplasia or aplasia of the olfactory bulbs) and complex congenital cardiac malformations (double-outlet right ventricle, dilated cardiomyopathy, right aortic arch). It represents a distinct clinical entity from Kallmann syndrome." "" + "obsolete rare genetic vascular disease" "Rare genetic vascular disease." "True" "true" + "obsolete keratosis follicularis spinulosa decalvans" "" "true" + "muscular pseudohypertrophy-hypothyroidism syndrome" "Muscular pseudohypertropy - hypothyroidism, also known as Kocher-Debre-Semelaigne syndrome is a rare disorder characterized by pseudohypertrophy of muscles due to longstanding hypothyroidism." "" + "Kousseff syndrome" "Kousseff syndrome is characterized by the association of conotruncal heart defects, myelomeningocele and craniofacial dysmorphism similar to that seen in monosomy 22q11." "" + "bronchogenic cyst" "Bronchogenic cysts (BCs) are congenital malformations resulting from abnormal budding of the foregut and are most commonly found in the mediastinum." "" + "trisomy 9p" "Trisomy 9p is a rare chromosomal anomaly syndrome, resulting from a partial or complete trisomy of the short arm of chromosome 9, with a wide phenotypic variablility, typically characterized by intellectual disability, craniofacial dysmorphism (e.g. microcephaly, large anterior fontanel, hypertelorism, strabismus, downslanting palpebral fissures, malformed, low-set, protruding ears, bulbous nose, macrostomia, down-turned corners of mouth, micrognathia), digital anomalies (brachydactyly and clinodactyly), and short stature. Less frequently patients present with cardiopathy and renal, skeletal, and central nervous system malformations." "" + "partial trisomy of the short arm of chromosome 9" "Chromosome 9p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 9." "" + "limb body wall complex" "Limb body wall complex (LBWC) is characterized by severe multiple congenital anomalies in the fetus with exencephaly/encephalocele, thoraco- and/or abdominoschisis (anterior body wall defects) and limb defects, with or without facial clefts." "" + "duplication of urethra" "Duplication of the urethra is a rare congenital genitourinary anomaly, encompassing a wide spectrum of anatomic variants in which the urethra is partially or totally duplicated, which may be asymptomatic or cause symptoms such as incontinence, recurrent urinary infections and difficulty urinating." "" + "laryngocele" "A rare congenital malformation in the larynx. It is characterized by the presence of an air-filled sac within the laryngeal wall which may bulge on the neck." "" + "digestive duplication" "" + "apolipoprotein A-II amyloidosis" "" + "infundibulo-neurohypophysitis" "" + "primary hypophysitis" "Immune-mediated inflammation of the pituitary gland often associated with other autoimmune diseases (e.g., hashimoto disease; graves disease; and addison disease)." "" + "obsolete hypotonia-cystinuria syndrome type 1" "" "true" + "atypical hypotonia-cystinuria syndrome" "A form of hypotonia-cystinuria syndrome characterized by mild to moderate intellectual disability in addition to classic hypotonia-cystinuria syndrome phenotype (cystinuria type 1, generalised hypotonia, poor feeding, growth retardation, and minor facial dysmorphism)." "" + "secondary polycythemia" "Secondary polycythemia is an elevated absolute red blood cell mass caused by enhanced stimulation of red blood cell production by an otherwise normal erythroid lineage that may be congenital or acquired (congenital secondary polycythemia and acquired secondary polycythemia)." "" + "IgG4-related mesenteritis" "Sclerosing mesenteritis (SM) is a rare pathological disease causing inflammation of the adipose tissue of the small bowel mesentery and is commonly associated with abdominal pain, diarrhea, nausea, weight loss, bloating and loss of appetite. The two subforms include mesenteric panniculitis (where inflammation and fatty necrosis are dominant features) and retractile mesenteritis (where fibrosis and retraction dominate)." "" + "leukoencephalopathy-palmoplantar keratoderma syndrome" "Leukoencephalopathy-palmoplantar keratoderma syndrome is a rare, genetic epidermal disease characterized by early childhood-onset of punctate palmoplantar keratoderma in association with adult-onset leukoencephalopathy manifested by progressive tetrapyramidal syndrome and cognitive deterioration." "" + "primary orthostatic tremor" "Primary orthostatic tremor (POT), or ``shaky legs syndrome'', is a rare movement disorder characterized by fast, task-specific tremor, affecting the legs and trunk while standing." "" + "Beckwith-Wiedemann syndrome due to NSD1 mutation" "" + "megacystis-megaureter syndrome" "Megacystic-megaureter syndrome is an urinary tract malformation characterized by the presence of a massive primary non-obstructive vesicoureteral reflux and a large capacity, smooth, thin walled bladder due to the continual recycling of refluxed urine. Recurrent urinary infections are commonly associated with this condition." "" + "primary megaureter, adult-onset form" "" + "congenital primary megaureter" "Congenital primary megaureter (PM) is an idiopathic condition in which the bladder and bladder outlet are normal but the ureter is dilated to some extent. It may be obstructed, refluxing or unobstructed and not refluxing." "" + "congenital primary megaureter, obstructed form" "" + "congenital primary megaureter, refluxing form" "" + "congenital primary megaureter, nonrefluxing and unobstructed form" "" + "neonatal iodine exposure" "Neonatal iodine exposure is a rare endocrine disease characterized by the appearance of transient hypothyroidism, usually in preterm newborns, following long or short-term topical iodine exposure. Parenteral exposure from iodinated contrast agents may similarly alter thyroid funtion in term neonates." "" + "transient congenital hypothyroidism due to neonatal factor" "" + "leukonychia totalis" "Leukonychia totalis is a rare nail anomaly disorder characterized by complete white discoloration of the nails. Patients typically present white, chalky nails as an isolated finding, although other cutaneous or systemic manifestations could also be present." "" + "glaucoma secondary to spherophakia/ectopia lentis and megalocornea" "Glaucoma secondary to spherophakia/ectopia lentis and megalocornea is a rare, genetic, non-syndromic developmental defect of the eye disorder characterized by congenital megalocornea associated with spherophakia and/or ectopia lentis leading to pupillary block and secondary glaucoma. Additional features may include flat irides, iridodonesis, axial myopia, very deep anterior chambers, miotic, oval pupils without well-defined borders, ocular pain and irritability manifesting as conjunctival injection, corneal edema and central scarring, as well as a high arched palate." "" + "ptosis-syndactyly-learning difficulties syndrome" "" + "1q44 microdeletion syndrome" "1q44 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, developmental delay, in particular of expressive speech, seizures and hypotonia." "" + "progressive supranuclear palsy-pure akinesia with gait freezing syndrome" "PSP-Pure akinesia with gait freezing (PSP-PAGF) is an atypical variant of progressive supranuclear palsy (PSP), a rare late-onset neurodegenerative disease." "" + "progressive supranuclear palsy-corticobasal syndrome" "PSP-corticobasal syndrome (PSP-CBS) is an atypical variant of progressive supranuclear palsy (PSP), a rare late-onset neurodegenerative disease." "" + "progressive supranuclear palsy-progressive non-fluent aphasia syndrome" "PSP-progressive non fluent aphasia (PSP-PNFA) is an atypical variant of progressive supranuclear palsy (PSP), a rare late-onset neurodegenerative disease. Unlike classic PSP (Richardson syndrome) patients present with an isolated speech production problem years before developing other motor features of PSP." "" + "monogenic obesity" "" + "loiasis" "Loiasis is a form of filariasis (see this term), caused by the parasitic worm Loa loa, endemic to the forest and savannah regions of Central and Western Africa. Loiasis may either be asymptomatic or manifest as a large, transient area of localized, non-erythematous subcutaneous edema (Calabar swellings), adult worm migration through the sub-conjunctiva (''African eye worm'') and pruritus. Generalized itching, hives, muscle pains, arthralgias, fatigue, and adult worms visibly migrating under the surface of the skin may be observed. Severe complications such as encephalopathy have been reported in highly infected individuals receiving ivermectin during mass drug administration programs for the control of onchocerciasis and lymphatic filariasis." "" + "locked-in syndrome" "Locked-in syndrome (LIS) is a neurological condition characterized by the presence of sustained eye opening, quadriplegia or quadriparesis, anarthria, preserved cognitive functioning and a primary code of communication that uses vertical eye movements or blinking." "" + "Lowe-Kohn-Cohen syndrome" "Lowe-Kohn-Cohen syndrome is an extremely rare anorectal malformation syndrome characterized by imperforate anus, closed ano-perineal fistula, preauricular skin tag and absent renal abnormalities and pre-axial limb deformities. There have been no further descriptions in the literature since 1983." "" + "obsolete rare lymphatic malformation" "" "true" + "primary pulmonary lymphoma" "Primary pulmonary lymphoma (PPL) is a rare lymphoma of the lung, defined as a clonal lymphoid proliferation affecting one or both lungs (parenchyma and/or bronchi) in a patient with no detectable extrapulmonary involvement at diagnosis or during the subsequent 3 months. PPL comprises low grade/indolent B cell PPL forms, the most frequent form represented by the marginal B-cell lymphoma of mucosa associated lymphoid tissue (MALT lymphoma) and other non-MALT low grade lymphomas; and more rarely high-grade B-cell PPL (including diffuse large B cell lymphoma) and lymphomatoid granulomatosis (LYG)." "" + "macrocephaly-short stature-paraplegia syndrome" "Macrocephaly-short stature-paraplegia syndrome is characterized by macrocephaly and midface hypoplasia, intellectual deficit, short stature, spastic paraplegia and severe central nervous system anomalies (hydrocephalus and Dandy-Walker malformation). It has been described in two unrelated adults." "" + "central bilateral macrogyria" "Central bilateral macrogyria is a neuronal migration disorder characterised by pseudobulbar palsy, developmental delay, mild mental retardation and epilepsy. It has been described in at least four children." "" + "cerebral cortical dysplasia" "Abnormalities in the development of the cerebral cortex. These include malformations arising from abnormal neuronal and glial cell proliferation or apoptosis (Group I); abnormal neuronal migration (Group ii); and abnormal establishment of cortical organization (Group iii). Many inborn metabolic brain disorders affecting cns formation are often associated with cortical malformations. They are common causes of epilepsy and developmental delay." "" + "acute fatty liver of pregnancy" "Acute fatty liver of pregnancy is a rare but severe complication occurring in the third trimester of pregnancy or in early postpartum period bearing a risk for perinatal and maternal mortality and characterized by jaundice, rise of hepatic injuries and evolving to acute liver failure and encephalopathy." "" + "hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome" "Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome is a neurocutaneous syndrome characterised by congenital hypomelanotic and hypermelanotic cutaneous macules. It has been described in individuals spanning three generations of an Indian family. Some of the patients also had retarded growth and intellectual deficit." "" + "split hand or/and split foot malformation" "" + "biliary atresia with splenic malformation syndrome" "Biliary atresia with splenic malformation syndrome (BASM) designates the association of biliary atresia and splenic abnormalities (mainly polysplenia and less frequently asplenia, double spleen). Cardiac defect, situs inversus and a preduodenal portal vein can also be present. It represents the embryonal or syndromic form of biliary atresia. It affects newborns or infants and is characterized by jaundice, pale stools, dark urine, failure to thrive, hepatomegaly, coagulopathy, anemia and often palpable spleen." "" + "congenital pulmonary airway malformation" "An abnormality in lung development that is characterized by a multicystic mass resulting from an adenomatous overgrowth of the terminal bronchioles with a consequent reduction of pulmonary alveoli. This anomaly is classified into three types by the cyst size." "" + "congenital mitral malformation" "" + "atrioventricular valve anomaly" "" + "familial intestinal malrotation-facial anomalies syndrome" "" + "obsolete mansonelliasis" "" "true" + "systemic mastocytosis" "Systemic mastocytosis (SM) comprises a heterogeneous group of rare acquired and chronic hematological malignancies that are related to an abnormal proliferation of mast cells in tissue, including bone marrow, with or without skin involvement." "" + "infantile mercury poisoning" "Infantile mercury poisoning is a rare intoxication affecting children, most commonly characterized by erythema of the hands, feet and nose, edematous, painful, pink to red, desquamating fingers and toes, bluish, cold and wet extremities, excessive sweating, irritability, photophobia, muscle weakness, diffuse hypotonia, paresthesia, hypertension and tachycardia, due to elemental, organic or inorganic mercury exposure. Additional manifestations include alopecia, loss of appetite, excessive salivation with red and swollen gums, tooth and nail loss, and insomnia." "" + "mercury poisoning" "Mercury poisoning is caused mainly through ingestion or inhalation of any of the 3 forms of mercury, elemental, organic, and inorganic. Exposure to elemental mercury affects the pulmonary (inhalation of mercury vapors causes coughing, chills, fever, shortness of breath), dermatological (mild swelling, vesiculation, scaling, irritation, urticaria, erythema and allergic contact dermatitis accompanied by pain), and peripheral and central nervous (CNS) systems (depression, paranoia, extreme irritability, hallucinations, inability to concentrate, memory loss, hands, head, lips, tongue, jaw and eyelids tremors, weight loss, perpetually low body temperature, drowsiness, headaches, insomnia, fatigue). Exposure to inorganic mercury generally causes development of a metallic taste, local oropharyngeal pain, nausea, vomiting, bloody diarrhea, colic abdominal pain, renal dysfunction and, neurologic abnormalities; while that to organic mercury can lead to delayed neurotoxicity." "" + "obsolete collecting duct carcinoma" "" "true" + "sporadic adult-onset ataxia of unknown etiology" "Sporadic adult-onset ataxia of unknown etiology describes a group of non-hereditary degenerative ataxias characterized by a slowly progressive cerebellar syndrome (with ataxia of stance and gait, upper limb dysmetria and intention tremor, ataxic speech, and oculomotor abnormalities), presenting in adulthood (at around 50 years of age), that is not due to a known cause. Extracerebellar symptoms (e.g., decreased vibration sense and absent or decreased ankle reflexes), polyneuropathy and mild autonomic dysfunction may also be present. Mild cognitive impairment has also rarely been reported." "" + "acquired ataxia" "A type of ataxia that is acquired during the lifetime of the individual." "" + "superficial siderosis" "Superficial siderosis is a rare neurologic disease characterized by progressive sensorineural hearing loss, cerebellar ataxia, pyramidal signs, and neuroimaging findings revealing hemosiderin deposits in the spinal and cranial leptomeninges and subpial layer. The disease progresses slowly and patients may present with mild cognitive impairment, nystagmus, dysmetria, spasticity, dysdiadochokinesia, dysarthria, hyperreflexia, and Babinski signs. Additional features reported include dementia, urinary incontinence, anosmia, ageusia, and anisocoria." "" + "inhalational anthrax" "A rare acute systemic infection caused by the inhalation of Bacillus anthracis spores (e.g. through infected animal products, bioterrorism) and characterized by an initial stage where patients present with non specific symptoms (fever, cough, chills, fatigue) that is followed by an acute phase during which hemorrhagic mediastinitis occurs that can progress into meningitis, gastrointestinal involvement, and refractory shock, that can be fatal, if left untreated." "" + "obsolete generalized pustular psoriasis" "" "true" + "autosomal recessive secondary polycythemia not associated with VHL gene" "" + "acute neonatal citrullinemia type I" "Acute neonatal citrullinemia type I is a severe form of citrullinemia type 1 characterized biologically by hyperammonemia and clinically by progressive lethargy, poor feeding and vomiting, seizures and possible loss of consciousness, within one to a few days of birth, with variable signs of increased intracranial pressure. The condition can lead to significant neurologic deficits." "" + "adult-onset citrullinemia type I" "Adult-onset citrullinemia type I is a form of citrullinemia type I characterized clinically by adult onset of symptoms including variable hyperammonemia and less striking neurological findings which may include intense headache, scotomas, migraine-like episodes, ataxia, slurred speech, lethargy and drowsiness. Serious increased intracranial pressure may occur." "" + "dysraphism-cleft lip/palate-limb reduction defects syndrome" "" + "perinatal lethal hypophosphatasia" "A rare, genetic form of hypophosphatasia (HPP) characterized by markedly impaired bone mineralization in utero due to reduced activity of serum alkaline phosphatase (ALP) and causing stillbirth or respiratory failure within days of birth." "" + "hypophosphatasia" "Hypophosphatasia (HPP) is a rare heritable metabolic disorder characterized by defective mineralization of bone and/or teeth in the presence of reduced activity of unfractionated serum alkaline phosphatase (ALP). The clinical spectrum is extremely wide, from stillbirth at one end to fractures of the lower extremities in adulthood, at the other, or even no bone manifestations (odontohypophosphatasia)." "" + "obsolete prenatal benign hypophosphatasia" "Prenatal benign hypophosphatasia (PB-HPP) is a very rare form of hypophosphatasia characterized by prenatal skeletal manifestations (limb shortening and bowing) that slowly resolve spontaneously and later develop into the milder infantile, childhood or adult forms of the disease." "" "true" + "odontohypophosphatasia" "Odontohypophosphatasia (odonto-HPP) is the least severe form of hypophosphatasia characterized by premature exfoliation of primary and/or permanent teeth and/or severe dental caries, in the absence of skeletal system abnormalities." "" + "inflammatory myopathy with abundant macrophages" "Inflammatory myopathy with abundant macrophages is a rare inflammatory myopathy characterized by diffuse destructive infiltration of CD68+ macrophages into the fascia rather than muscle fibers in muscle biopsies, proximal muscle weakness and myalgia with or without scaly dermatomyositis-like or atypical non-dermatomyositis-like skin lesions, elevation of creatine kinase levels and thickening of muscle fascia in muscle MRI." "" + "idiopathic eosinophilic myositis" "" + "lipoblastoma" "A lipoma usually occurring in the extremities of young children (usually boys). It is characterized by lobules of adipose tissue, separated by fibrous septa. The adipose tissue is composed of mature adipocytes and lipoblasts. The lipoblasts may be scarce, depending on the age of the patient." "" + "APC-related attenuated familial adenomatous polyposis" "" + "autosomal recessive ataxia due to PEX10 deficiency" "" + "oligoarticular juvenile idiopathic arthritis with anti-nuclear antibodies" "" + "oligoarticular juvenile idiopathic arthritis" "Oligoarticular juvenile arthritis is the most common form of juvenile idiopathic arthritis (JIA), representing nearly 50% of cases." "" + "oligoarticular juvenile idiopathic arthritis without anti-nuclear antibodies" "" + "rheumatoid factor-negative juvenile idiopathic arthritis with anti-nuclear antibodies" "" + "rheumatoid factor-negative juvenile idiopathic arthritis" "Rheumatoid factor-negative polyarthritis is a term used to describe a group of poorly defined heterogenous conditions that incorporates forms of rheumatoid factor-negative polyarthritis and forms of oligoarticular arthritis that become extensive in less than 6 months after onset." "" + "rheumatoid factor-negative juvenile idiopathic arthritis without anti-nuclear antibodies" "" + "juvenile Huntington disease" "Juvenile Huntington disease (JHD) is a form of Huntington disease (HD), characterized by onset of signs and symptoms before 20 years of age." "" + "Melhem-Fahl syndrome" "Melhem-Fahl syndrome was described in two siblings born to consanguineous parents in 1985 and was characterized by the presence of 15 dorsal vertebrae and rib pairs. No other cases have been documented since the initial report." "" + "obsolete rare deficiency anemia" "Any of the forms of deficiency anemia that have a rare incidence." "True" "true" + "inherited deficiency anemia" "" + "acquired deficiency anemia" "An instance of deficiency anemia that is acquired during the lifetime of the individual." "" + "hemolytic anemia due to glyceraldehyde-3-phosphate dehydrogenase deficiency" "" + "obsolete rare hemorrhagic disorder" "True" "true" + "obsolete hemorrhagic disorder due to a platelet anomaly" "" "true" + "isolated delta-storage pool disease" "Isolated delta-storage pool disease is a rare, isolated, constitutional thrombocytopenia disorder characterized by defective formation and/or malfunction of platelet dense granules, as well as melanosomes in skin cells, resulting in variable manifestations ranging from mild bleeding and easy bruising to moderate mucous/cutaneous hemorrhagic diathesis and bleeding complications after surgery." "" + "obsolete hemorrhagic disorder due to an acquired platelet anomaly" "A hemorrhagic disorder due to a platelet anomaly which develops after birth." "True" "true" + "obsolete thrombotic disorder due to a coagulation factors defect" "" "true" + "obsolete thrombotic disorder due to a constitutional coagulation factors defect" "True" "true" + "obsolete thrombotic disorder due to a platelet anomaly" "" "true" + "obsolete thrombotic disorder due to a constitutional platelet anomaly" "True" "true" + "obsolete thrombotic disorder due to an acquired platelet anomaly" "True" "true" + "familial hypodysfibrinogenemia" "" + "lower limb deficiency-hypospadias syndrome" "Lower limb malformation-hypospadias syndrome is a rare developmental defect during embryogenesis characterized by severe, uni- or bilateral lower limb malformations (incl. tibial hypoplasia, split and rocker bottom-shaped feet, and oligosyndactyly), normal upper limbs and hypospadias. Additional dysmorphic features (e.g. short neck and low-set, large ears), atrial septal defect, ureteropelvic junction stenosis and slight septation of the spleen, have also been reported. There have been no further descriptions in the literature since 1977." "" + "obsolete fibrous dysplasia of bone" "" "true" + "limb transversal defect-cardiac anomaly syndrome" "" + "tumor of meninges" "A benign or malignant neoplasm that affects the meninges. The majority of the neoplasms arise from meningothelial cells and are called meningiomas. Non-meningothelial cell neoplasms include mesenchymal, non-meningothelial tumors, hemangiopericytomas, and melanocytic lesions." "" + "logopenic progressive aphasia" "Logopenic progressive aphasia (lv-PPA) is a form of primary progressive aphasia (PPA), characterized by impaired single-word retrieval and naming and impaired repetition with spared single-word comprehension and object knowledge." "" + "obsolete rare neoplastic disease" "True" "true" + "autosomal dominant optic atrophy and peripheral neuropathy" "Autosomal dominant optic atrophy and peripheral neuropathy (ADOAPN) is a form of autosomal dominant optic atrophy (ADOA), characterized by progressive and isolated visual loss in the first decade of life, decreased reflexes in the lower limbs and a mild cerebellar stance." "" + "paternal uniparental disomy of chromosome 1" "Paternal uniparental disomy of chromosome 1 is an uniparental disomy of paternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier." "" + "maternal uniparental disomy of chromosome 1" "Maternal uniparental disomy of chromosome 1 is an uniparental disomy of maternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier." "" + "2q31.1 microdeletion syndrome" "2q31.1 microdeletion syndrome is a well-defined and clinically recognisable syndrome characterized by moderate to severe developmental delay, short stature, facial dysmorphism and variable limb defects." "" + "2q33.1 microdeletion syndrome" "2q33.1 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 2, with a highly variable phenotype typically characterized by severe intellectual disability, moderate to severe developmental delay (particularly speech), feeding difficulties, failure to thrive, hypotonia, thin, sparse hair, various dental abnormalities and cleft/high-arched palate. Typical dysmorphic features inlcude high, prominent forehead, down-slanting palpebral fissures and prominent nasal bridge with beaked nose. Various behavioral problems (e.g. hyperactivity, chaotic/repetitive behavior, touch avoidance) are also associated." "" + "ring chromosome 5" "Ring chromosome 5 syndrome is a rare chromosomal anomaly syndrome, with high phenotypic variability, principally characterized by a neonatal mewing cry, severe developmental delay and intellectual disability, short stature, hypotonia, dysmorphic features (incl. microcephaly, facial asymmetry, hypertelorism, epicanthal folds, abnormal ears, micro/retrognathia), congenital cardiac anomalies (such as atrial and ventricular septal defect, tricuspid insufficiency, hypoplastic aorta) and skeletal abnormalities (e.g. hypoplastic thumbs, anomalous ulna/radius, dysplastic metacarpals and phalanges)." "" + "6p22 microdeletion syndrome" "6p22 microdeletion syndrome is a newly described syndrome associated with a variable clinical phenotype including developmental delay, facial dysmorphism, short neck and diverse malformations." "" + "7q31 microdeletion syndrome" "" + "8p11.2 deletion syndrome" "8p11.2 deletion syndrome is a contiguous gene syndrome characterized by the association of congenital spherocytosis, dysmorphic features, growth delay and hypogonadotropic hypogonadism." "" + "partial deletion of the short arm of chromosome 8" "Chromosome 8p deletion is a chromosome abnormality that affects many different parts of the body. People with this condition are missing genetic material located on the short arm (p) of chromosome 8 in each cell. The severity of the condition and the associated signs and symptoms vary based on the size and location of the deletion and which genes are involved. Most cases are not inherited, although affected people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person." "" + "8p23.1 microdeletion syndrome" "8p23.1 deletion involves a partial deletion of the short arm of chromosome 8 characterized by low birth weight, postnatal growth deficiency, mild intellectual deficit, hyperactivity, craniofacial abnormalities, and congenital heart defects." "" + "8p23.1 duplication syndrome" "8p23.1 duplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 8, with a highly variable phenotype, principally characterized by mild to moderate developmental delay, intellectual disability, mild facial dysmorphism (incl. prominent forehead, arched eyebrows, broad nasal bridge, upturned nares, cleft lip and/or palate) and congenital cardiac anomalies (e.g., atrioventricular septal defect). Other reported features include macrocephaly, behavioral abnormalities (e.g., attention deficit disorder), seizures, hypotonia and ocular and digital anomalies (poly/syndactyly)." "" + "partial duplication of the short arm of chromosome 8" "Chromosome 8p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 8. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 8p duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Most cases are not inherited, but people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person." "" + "infantile onset panniculitis with uveitis and systemic granulomatosis" "" + "granulomatous autoinflammatory syndrome" "" + "idiopathic recurrent pericarditis" "A rare autoinflammatory syndrome defined as recurrence of pericardial inflammation of unknown origin following the first episode of acute pericarditis and a symptom-free interval of 4-6 weeks or longer. Recurrent attacks of chest pain may be the sole presentation or the chest pain may be accompanied by pericardial friction rub, electrocardiographic or echocardiographic changes, pericardial effusion and increased C-reactive protein. Cardiac tamponade is a rare, life-threatening complication." "" + "drug-induced vasculitis" "A skin hypersensitivity reaction due to exposure to a pharmacologic substance that is characterized by raised purpuric lesions, red macules, hemorrhagic blisters and ulcerations." "" + "secondary vasculitis" "" + "obsolete unclassified vasculitis" "" "true" + "unexplained long-lasting fever/inflammatory syndrome" "" + "sickle cell disease associated with an other hemoglobin anomaly" "" + "sickle cell-beta-thalassemia disease syndrome" "Sickle beta thalassemia is an inherited condition that affects hemoglobin, the protein in red blood cells that carries oxygen to different parts of the body.It is a type of sickle cell disease. Affected people havea differentchange (mutation) in each copy of their HBB gene: onethat causes red blood cells to form a 'sickle' or crescent shape and a second that is associated with beta thalassemia, a blood disorder that reduces the production of hemoglobin. Depending on the beta thalassemia mutation, people may have no normal hemoglobin (called sickle beta zero thalassemia) or a reduced amount of normal hemoglobin (called sickle beta plus thalassemia). The presence of sickle-shaped red blood cells, which often breakdown prematurely and can get stuck in blood vessels, combined with the reduction or absence of mature redblood cells leadsto the many signs and symptoms of sickle beta thalassemia. Features, which may include anemia (low levels of red blood cells), repeated infections, and frequent episodes of pain, generally develop in early childhood and vary in severity depending on the amount of normal hemoglobin made. Sickle beta thalassemia is inherited in an autosomal recessive manner. Treatment is supportive and depends on the signs and symptoms present in each person." "" + "sickle cell-hemoglobin c disease syndrome" "" + "sickle cell-hemoglobin d disease syndrome" "" + "sickle cell-hemoglobin E disease syndrome" "" + "hereditary persistence of fetal hemoglobin-sickle cell disease syndrome" "" + "localized junctional epidermolysis bullosa, non-Herlitz type" "Junctional epidermolysis bullosa, localized non-Herlitz-type is a form of non-Herlitz junctional epidermolysis bullosa (JEB-nH) characterized by localized blistering, and dystrophic or absent nails." "" + "distal arthrogryposis type 10" "" + "recurrent infections-inflammatory syndrome due to zinc metabolism disorder syndrome" "Hyperzincemia and hypercalprotectinemia is a rare inborn error of zinc metabolism characterized by recurrent infections, hepatosplenomegaly, anemia (unresponsive to iron supplementation) and chronic systemic inflammation in the presence of high plasma concentrations of zinc and calprotectin. Patients typically present dermal ulcers or other cutaneous manifestations (e.g. inflammation) and arthralgia. Severe epistaxis and spontaneous hematomas have also been reported." "" + "obsolete rare tumor of neuroepithelial tissue" "Any of the forms of neuroepithelial neoplasm that have a rare incidence." "True" "true" + "gliosarcoma" "A rare histological variant of glioblastoma (WHO grade IV) characterized by a biphasic tissue pattern with alternating areas displaying glial and mesenchymal differentiation (WHO)." "" + "giant cell glioblastoma" "A rare histological variant of glioblastoma (WHO grade IV) with a predominance of bizarre, multinucleated giant cells, an occasionally abundant stromal reticulin network, and a high frequency of TP53 mutations. (WHO)" "" + "gliomatosis cerebri" "A diffuse glial tumor which infiltrates the brain extensively, involving more than two lobes. It is frequently bilateral and often extends to the infratentorial structures, even to the spinal cord. It is probably of astrocytic origin, although GFAP expression may be scant or absent. (Adapted from WHO.)" "" + "anaplastic astrocytoma" "Anaplastic astrocytoma is a rare, high-grade, malignant glial tumor, histologically characterized by abundance of pleomorphic astrocytes and multiple mitotic figures, often associated with diffuse infiltration of the surrounding tissue, considerable edema and mass effect and involvement of the contralateral brain. Depending on the primary localization of the tumor, patients can present with signs of raised intracranial pressure (headache, vomiting, papilledema), seizures, progressive neurological deficits, and/or behavioral changes. The tumor is most commonly localized in the frontal and temporal lobes, brain stem and spinal cord." "" + "low grade astrocytic tumor" "A grade I or grade II astrocytic tumor. This category includes pilocytic astrocytoma (grade I), subependymal giant cell astrocytoma (grade I), and diffuse astrocytoma (grade II)." "" + "diffuse astrocytoma" "A low-grade (WHO grade II) astrocytic neoplasm. It is characterized by diffuse infiltration of neighboring central nervous system structures. These lesions typically affect young adults and have a tendency for progression to anaplastic astrocytoma and glioblastoma. Based on the IDH genes mutation status, diffuse astrocytomas are classified as IDH-mutant, IDH-wildtype, and not otherwise specified." "" + "grade II glioma" "A glioma arising from the central nervous system. This category includes diffuse astrocytoma, ependymoma, oligodendroglioma, and oligoastrocytoma." "" + "protoplasmic astrocytoma" "A rare variant of diffuse astrocytoma. It is predominantly composed of neoplastic astrocytes showing a small cell body with few, flaccid processes with a low content of glial filaments and scant GFAP expression. This lesion is not well defined and is considered by some authors as an occasional histopathological feature rather than a reproducibly identifiable variant. When occurring in children, this neoplasm may be difficult to separate from pilocytic juvenile astrocytoma. (Adapted from WHO)" "" + "fibrillary astrocytoma" "The most frequent histological variant of diffuse astrocytoma. It is predominantly composed of fibrillary neoplastic astrocytes. Nuclear atypia is a diagnostic criterion but mitotic activity, necrosis and microvascular proliferation are absent. The occasional or regional occurrence of gemistocytic neoplastic cells is compatible with the diagnosis of fibrillary astrocytoma. (WHO)" "" + "gemistocytic astrocytoma" "A rare variant of diffuse astrocytoma. It is characterized by the presence of a conspicuous, though variable, fraction of gemistocytic neoplastic astrocytes. Gemistocytes are round to oval astrocytes with abundant, glassy, non-fibrillary cytoplasm which appears to displace the dark, angulated nucleus to the periphery of the cell. To make the diagnosis of gemistocytic astrocytoma, gemistocytes should amount to more than approximately 20% of all tumor cells. (Adapted from WHO)" "" + "pleomorphic xanthoastrocytoma" "A WHO grade ll astrocytic tumor with a relatively favorable prognosis. It is characterized by pleomorphic and lipidized cells expressing GFAP often surrounded by a reticulin network and eosinophilic granular bodies. It presents in the superficial cerebral hemispheres and involves the meninges. It typically affects children and young adults." "" + "pilomyxoid astrocytoma" "An astrocytic tumor of uncertain relation to pilocytic astrocytoma. It occurs predominantly in infants and young children. It is characterized by a monomorphic architectural pattern, usually associated with the absence of Rosenthal fibers and eosinophilic granular bodies. The clinical course is usually aggressive." "" + "subependymal giant cell astrocytoma" "A benign, slowly growing tumor (WHO grade I) typically arising in the wall of the lateral ventricles and composed of large ganglioid astrocytes. It is the most common CNS neoplasm in patients with tuberous sclerosis complex and typically occurs during the first two decades of life. (WHO)" "" + "obsolete Pituicytoma" "" "true" + "oligodendroglial tumor" "Oligodendrogliomas are cerebral tumors that are differentiated from other gliomas on the basis of their unique genetic characteristics and better response to chemotherapy. These tumors are classified according to their grade (low grade oligodendrogliomas: grade II of the WHO classification and anaplastic oligodendrogliomas: grade III of the WHO classification) and according to their pure or mixed histology (oligoastrocytomas)." "" + "tumor grade 2, general grading system" "A morphologic qualifier indicating that a cancerous lesion is moderately differentiated." "" + "anaplastic oligodendroglioma" "A WHO grade III oligodendroglioma with focal or diffuse malignant morphologic features (prominent nuclear pleomorphism, mitoses, and increased cellularity)." "" + "grade III glioma" "A group of malignant gliomas that includes anaplastic astrocytoma, anaplastic oligodendroglioma, anaplastic oligoastrocytoma, and anaplastic ependymoma." "" + "myxopapillary ependymoma" "Myxopapillary ependymoma (MEPN) describes a slow growing ependymoma located almost exclusively in the conus medullaris-cauda equina-filum terminale region of the spinal cord, presenting in all age groups, and manifesting with variable symptoms such as neck pain, vomiting and unsteady gait and metastasis. It has a more aggressive disease course and is seen in the pediatric population." "" + "oligoastrocytic tumor" "" + "oligoastrocytoma" "A WHO grade II tumor composed of a conspicuous mixture of two distinct neoplastic cell types morphologically resembling the tumor cells in oligodendroglioma and diffuse astrocytoma. (WHO)" "" + "anaplastic oligoastrocytoma" "An oligoastrocytoma characterized by the presence of increased cellularity, nuclear atypia, pleomorphism, and high mitotic activity." "" + "glial tumor of neuroepithelial tissue with unknown origin" "True" + "angiocentric glioma" "Angiocentric glioma (AG) is an extremely rare slow-growing glial neoplasm of the central nervous system, usually arising in a superficial location in the cerebrum, affecting all ages and both sexes, and characterized by intractable seizures and headaches, with most cases being cured by surgical incision alone and therefore having a good prognosis." "" + "astroblastoma" "Astroblastoma is a very rare glial neoplasm of the central nervous system, most often with an intra-axial peripheral supratentorial location in one hemisphere of the frontal or parietal lobes and usually presenting in infants and young adults with symptoms of vomiting, loss of consciousness, epileptic seizures and headaches." "" + "neuroepithelial neoplasm" "A neoplasm of the nervous system that arises from the neuroepithelial tissues. Representative examples include astrocytic tumors, oligodendroglial tumors, ependymal tumors, and primitive neuroectodermal tumors." "" + "anaplastic/large cell medulloblastoma" "A medulloblastoma composed of sheets of large cells mixed with cells characterized by marked nuclear pleomorphism and high mitotic activity." "" + "medulloblastoma with extensive nodularity" "Medulloblastoma with extensive nodularity (MBEN) is a histological variant of medulloblastoma, an embryonic malignancy, most often located in the inferior medullary velum and then growing into the fourth ventricle, and presenting in infants and young children with symptoms of increased intracranial pressure such as headache, listlessness, vomiting, diplopia and papilledema. It is often associated with Gorlin syndrome and has a relatively good prognosis." "" + "desmoplastic/nodular medulloblastoma" "A histological variant of medulloblastoma, an embryonic malignancy, often located in one of the cerebellar hemispheres, occurring most frequently in adults and manifesting with symptoms such as vomiting and headache." "" + "classic medulloblastoma" "Classic medulloblastoma is a histological variant of medulloblastoma, an embryonic malignancy, having a midline location, occurring most often in children and manifesting with variable symptoms such as headaches, nausea, vomiting and ataxia." "" + "obsolete ganglioneuroblastoma" "" "true" + "obsolete medulloepithelioma of the central nervous system" "" "true" + "microcephaly-seizures-intellectual disability-heart disease syndrome" "Microcephaly-seizures-intellectual disability-heart disease syndrome is characterised by intellectual deficit, a cardiac anomaly, micropenis, hypothyroidism, epileptic seizures, and skeletal anomalies. It has been described in two males." "" + "obsolete atypical papilloma of choroid plexus" "" "true" + "pineal tumor of neuroepithelial tissue" "" + "pineocytoma" "Pineocytoma is the least aggressive form of pineal parenchymal tumors, manifesting with symptoms such as Parinaud's syndrome (a group of eye movement abnormalities and pupil dysfunction, including deficiency in upward-gaze and convergence-retraction nystagmus), headaches, balance impairment, urinary incontinence, and changes in mood and that are not known to disseminate in a diffuse manner. They are usually associated with a good prognosis." "" + "papillary tumor of the pineal region" "Papillary tumor of the pineal region (PTPR) is a very rare neoplasm of the pineal region that is thought to arise from the specialized ependymocytes of the subcommissural organ and that manifests with visual disturbances, headaches, loss of coordination and balance, nausea and vomiting due to obstructive hydrocephalus." "" + "pineal parenchymal tumor of intermediate differenciation" "Pineal parenchymal tumor of intermediate differentiation (PPTID) describes a rare type of pineal parenchymal tumor (PPT) of intermediate-grade malignancy manifesting with visual disturbances, headaches, loss of coordination and balance, nausea and vomiting due to obstructive hydrocephalus, and that is classified as either grade II PPTID or grade III PPTID according to the degree of neuronal differentiation and mitotic activity." "" + "extraventricular neurocytoma" "Extraventricular neurocytoma (EVN), a variant of central neurocytoma, is a rare neuronal neoplasm, composed of round cells with neuronal differentiation, which is located outside of the ventricular system, usually within the spinal cord or cerebral hemispheres and that manifests with headache, nausea, vomiting, complex partial seizures or focal neurological deficits. In some cases it may exhibit atypical features consistent with aggressive clinical behavior." "" + "obsolete cerebellar liponeurocytoma" "" "true" + "gangliocytoma" "A well differentiated, slow growing neuroepithelial neoplasm composed of neoplastic, mature ganglion cells." "" + "desmoplastic infantile astrocytoma/ganglioglioma" "Desmoplastic infantile astrocytoma/ganglioglioma are mixed neuronal-glial tumors representing a histological spectrum of the same tumor. They are usually supratentorially located, large, cystic masses with a peripheral solid component, characterized by prominent desmoplastic stroma and pleomorphic populations of neoplastic cells with either astrocytic or ganglionic differentiation and poorly differentiated cells in variable proportions. They usually present in the first 18 months of age with rapid head growth, bulging anterior fontanel and bone structures over the tumor, signs of raised intracranial pressure (headache, vomiting, papilledema), focal neurological signs and sometimes seizures." "" + "obsolete dysembryoplastic neuroepithelial tumor" "" "true" + "anaplastic ganglioglioma" "A WHO grade III neuroepithelial neoplasm composed of neoplastic, mature ganglion cells and anaplastic glial cells. The anaplastic changes in the glial component and high MIB-1 and TP53 labeling indices may indicate aggressive behavior. However, the correlation of histological anaplasia with clinical outcome is inconsistent. (Adapted from WHO)" "" + "papillary glioneuronal tumor" "A WHO grade I, indolent and relatively circumscribed brain tumor. Morphologically it is characterized by the presence of astrocytes that line vascular and hyalinized pseudopapillae. In between the pseudopapillae aggregates of neurocytes, large neurons, and ganglioid cells are present." "" + "rosette-forming glioneuronal tumor of fourth ventricule" "A central nervous system neoplasm mostly occurring in the fourth ventricle region. It is characterized by the presence of neurocytes forming pseudorosettes and astrocytes which contain Rosenthal fibers. Cytologic atypia is minimal." "" + "obsolete ganglioneuroma" "" "true" + "obsolete teratoma of the central nervous system" "" "true" + "primary melanocytic tumor of central nervous system" "" + "diffuse leptomeningeal melanocytosis" "Diffuse leptomeningeal melanocytosis is a rare tumor of meninges arising from leptomeningeal melanocytes, characterized by diffuse infiltration of the leptomeninges (pia mater and arachnoidea) anywhere in the central nervous system. Clinical features may include stillbirth, intracranial hypertension and hydrocephalus, seizure, ataxia, syringomyelia, cranial nerve palsy, intracranial haemorrhage, sphincter dysfunction and neuropsychiatric symptoms. Transformation into malignant melanoma of the central nervous system was reported. It may be associated with congenital nevi, as a part of neurocutaneous melanosis." "" + "meningeal melanocytoma" "A usually well differentiated melanocytic neoplasm arising from the meninges. It is characterized by the presence of epithelioid, fusiform, polyhedral, and spindle melanocytes without evidence of hemorrhage, necrosis, or high mitotic activity. Presenting symptoms include headache, vomiting, and neurological manifestations. Complete excision is usually curative." "" + "microcephaly-cleft palate syndrome" "Microcephaly-cleft palate-abnormal retinal pigmentation syndrome is a rare orofacial clefting syndrome characterized by microcephaly, cleft of the secondary palate and other variable abnormalities, including abnormal retinal pigmentation, facial dysmorphism with hypotelorism and maxillary hypoplasia. Goiter, camptodactyly, abnormal dermatoglyphics and mild intellectual disability may also be associated. There have been no further descriptions in the literature since 1983." "" + "malignant perineurioma" "A very rare malignant tumor with morphologic features similar to those of benign perineurioma of soft tissue along with hypercellularity, nuclear atypia, hyperchromasia, and a high mitotic rate." "" + "obsolete benign schwannoma" "" "true" + "vestibular schwannoma" "Vestibular schwannoma is a rare tumor of the posterior fossa originating in the Schwann cells of the vestibular transitional zone of the vestibulocochlear nerve that can be benign, small, slow growing and asymptomatic or large, faster growing and aggressive and potentially fatal, presenting with symptoms of hearing and balance impairment, vertigo, ataxia, headache and fifth, sixth or seventh cranial nerve dysfunction and facial numbness." "True" + "malignant triton tumor" "Malignant triton tumor (MTT) is a rare aggressive subtype of malignant peripheral nerve sheath tumor (MPNST) characterized histopathologically by focal rhabdomyoblastic differentiation." "" + "microcephaly-brain defect-spasticity-hypernatremia syndrome" "Microcephaly-brain defect-spasticity-hypernatremia syndrome is a rare congenital genetic syndrome with a central nervous system malformation as a major feature characterized by microcephaly, hypertonia, developmental delay and cognitive impairment, swallowing difficulty, hypernatremia, and hypoplasia of the frontal parts and fusion of the lateral ventricles on brain MRI. Only one familial case with three affected siblings reported and there have been no further descriptions in the literature since 1986." "" + "microcephaly-microcornea syndrome, Seemanova type" "Microcephaly-microcornea syndrome, Seemanova type is characterised by microcephaly and brachycephaly, eye anomalies (microphthalmia, microcornea, congenital cataract), hypogenitalism, severe intellectual deficit, growth retardation and progressive spasticity. It has been described in two patients (a male and his sister's son). Both patients also presented with facial dysmorphism, including upslanting palpebral fissures, epicanthal folds, highly arched palate, microstomia, and retrognathia. This syndrome is transmitted as an X-linked trait." "" + "microcornea-corectopia-macular hypoplasia syndrome" "Microcornea-corectopia-macular hypoplasia syndrome is characterised by microcornea, which may also be accompanied by corectopia and macular hypoplasia. It has been described in three individuals from two successive generations of one family." "" + "19p13.12 microdeletion syndrome" "19p13.12 microdeletion syndrome is a newly described syndrome characterized by moderate to severe developmental delay, language delay, bilateral sensorineural and/or conductive hearing loss and facial dysmorphism." "" + "obsolete rare lichen planus" "Lichen planus (LP) is a common inflammatory dermatosis characterized by the development of pruritic violaceous papules or plaques on mucocutaneous surfaces. Eruptions can involve the face, neck, limbs, back, genitalia, tongue, buccal mucosa, nails, and scalp. LP comprises rare variants affecting the skin and the mucosa. Rare cutaneous LP includes linear LP (referring to blaschkoid and zosteriform distributions of lichenoid lesions), actinic LP, annular LP, atrophic LP, annular atrophic LP, lichen planopilaris (comprising Graham Little-Piccardi-Lassueur syndrome and frontal fibrosing alopecia), lichen planus pigmentosus, and lichen planus pemphigoides. Rare mucosal LP includes vulvovaginal gingival syndrome and LP sialadenitis." "True" "true" + "obsolete cutaneous lichen planus" "" "true" + "obsolete rare mucosal lichen planus" "True" "true" + "linear lichen planus" "Linear lichen planus (LLP), also referred to as Blaschkoid LP, is a rare type of lichen planus characterized by a linear distribution of lichenoid lesions along the lines of Blaschko, which are embryonic pathways of skin development." "" + "actinic lichen planus" "Actinic lichen planus (LP) is a rare variant of cutaneous lichen planus characterized by the development of photo-distributed lichenoid lesions." "" + "annular atrophic lichen planus" "Annular atrophic lichen planus (LP) is a rare variant of cutaneous lichen planus characterized by both annular and atrophic LP features in the same lesion." "" + "annular lichen planus" "Annular lichen planus (LP) is a rare variant of cutaneous lichen planus characterized by the development of annular lesions." "" + "atrophic lichen planus" "Atrophic lichen planus (LP) is a rare variant of cutaneous lichen planus characterized by the development of pale papules or plaques with an atrophic center." "" + "lichen planus pigmentosus" "Lichen planus (LP) pigmentosus is a rare variant of cutaneous lichen planus characterized by the presence of hyperpigmented lichenoid lesions in sun-exposed or flexural areas of the body." "" + "lichen planus pemphigoides" "Lichen planus (LP) pemphigoides is a rare cross-over syndrome between lichen planus and bullous pemphigoid." "" + "frontal fibrosing alopecia" "Frontal fibrosing alopecia (FFA) is a rare variant of lichen planopilaris characterized by symmetrical, progressive, band-like anterior hair loss of the scalp." "" + "inhalational botulism" "Inhalational botulism is a man-made form of botulism, a rare acquired neuromuscular junction disease with descending flaccid paralysis caused by botulinum neurotoxins (BoNTs)." "" + "iatrogenic botulism" "Iatrogenic botulism is the most recent man-made form of botulism, a rare acquired neuromuscular junction disease with descending flaccid paralysis caused by botulinum neurotoxins (BoNTs), and it may occur as an adverse event after therapeutic or cosmetic use." "" + "paternal 14q32.2 microdeletion syndrome" "" + "maternal 14q32.2 microdeletion syndrome" "" + "paternal 14q32.2 hypomethylation syndrome" "" + "maternal 14q32.2 hypermethylation syndrome" "" + "partial hydatidiform mole" "Partial hydatiform mole is a type of hydatiform mole characterized by abnormal hyperplastic trophoblasts and hydropic villi due to fertilization of a normal ovocyte by two spermatozoa or one abnormal spermatozoon (allowing for some fetal development), and that manifests with vaginal bleeding accompanied by nausea and frequent vomiting, hyperemesis gravidarum, hyperthyroidism and risk of spontaneous miscarriage." "" + "epithelioid trophoblastic tumor" "An epithelioid trophoblastic tumor is an extremely rare gestational trophoblastic tumor (GTT) which generally occurs several years after pregnancy." "" + "obsolete genetic hyperferritinemia without iron overload" "Genetic hyperferritinemia without iron overload is a rare biological anomaly defined as high serum ferritin levels without elevations of transferrin saturation, tissue or serum iron and characterized by an apparently asymptomatic clinical phenotype." "" "true" + "mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies" "True" + "mitochondrial DNA maintenance syndrome" "An acquired metabolic disease that is has its basis in the disruption of mitochondrial genome maintenance." "" + "mitochondrial membrane transport disorder" "" + "obsolete exercise intolerance with lactic acidosis" "" "true" + "maternally-inherited mitochondrial dystonia" "Maternally-inherited mitochondrial dystonia is a rare neurological mitochondrial DNA-related disorder characterized clinically by progressive pediatric-onset dystonia with variable degrees of severity." "" + "pure mitochondrial myopathy" "Pure mitochondrial myopathy is a rare mitochondrial disease characterized by exclusive skeletal muscle involvement, without clinical evidence of other organ involvement, manifesting with progressive limb weakness, proximal limb muscle atrophy, and eye muscle anomalies (e.g. ocular motility restriction, ptosis). Patients may present with lactic acidosis, diffuse myalgia and overall fatigability (particularly during/after physical activities), dysphagia, and diminished deep tendon reflexes." "" + "spinocerebellar ataxia with epilepsy" "" + "renal tubulopathy-encephalopathy-liver failure syndrome" "Renal tubulopathy - encephalopathy - liver failure describes a spectrum of phenotypes with manifestations similar but milder than those seen in Gracile syndrome and that can be associated with encephalopathy and psychiatric disorders." "" + "obsolete microsporidiosis" "" "true" + "maternally-inherited Leigh syndrome" "Maternally inherited Leigh syndrome is a rare subtype of Leigh syndrome characterized clinically by encephalopathy, lactic acidosis, seizures, cardiomyopathy, respiratory disorders and developmental delay, with onset in infancy or early childhood, and resulting from maternally-inherited mutations in mitochondrial DNA." "" + "Mikati-Najjar-Sahli syndrome" "Mikati-Najjar-Sahli syndrome is characterized by microcephaly, hypergonadotropic hypogonadism, short stature and facial dysmorphism (a narrow forehead, hypertrophy and fusion of the eyebrows, micrognathia and pinnae abnormalities)." "" + "Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome" "This syndrome is characterized by the association of MC6bius syndrome (congenital facial palsy with impaired ocular abduction) with peripheral axonal neuropathy and hypogonadotropic hypogonadism." "" + "Moyomoya angiopathy" "" + "shoulder and girdle defects-familial intellectual disability syndrome" "" + "myalgia-eosinophilia syndrome associated with tryptophan" "A rare systemic disease characterized by severe myalgia and peripheral eosinophilia associated with tryptophan dietary supplementation. The symptoms do not subside after tryptophan discontinuation. Clinical presentation includes muscle tenderness and cramps, fatigue, weakness, paresthesia, peripheral edema, arthralgia, dyspnea, skin rash, dry mouth, and development of scleroderma-like skin abnormalities." "" + "mycetoma" "Mycetomas are subcutaneous inflammatory pseudotumors containing fungal or actinomycetic (bacteria with branched filaments) granules or grains." "" + "mitochondrial myopathy-lactic acidosis-deafness syndrome" "Mitochondrial myopathy-lactic acidosis-deafness is a type of metabolic myopathy described only in two sisters to date, presenting during childhood, and characterized clinically by growth failure, severe muscle weakness, and moderate sensorineural deafness and biochemically by metabolic acidosis, elevated serum pyruvate concentration, hyperalaninemia and hyperalaninuria. There have been no further descriptions in the literature since 1973." "" + "myopathy-growth delay-intellectual disability-hypospadias syndrome" "" + "familial visceral myopathy" "A rare hereditary myopathic degeneration of both gastrointestinal and urinary tracts that causes chronic intestinal pseudo-obstruction. It usually presents after the first decade of life with megaduodenum, megacystis and symptoms such as abdominal distension and/or pain, vomiting, constipation, diarrhea, dysphagia, and/or urinary tract infections.n." "" + "visceral myopathy" "" + "linear verrucous nevus syndrome" "" + "distal 7q11.23 microduplication syndrome" "Distal 7q11.23 microduplication syndrome is a rare chromosomal anomaly characterized by a predominantly neuropsychiatric phenotype with a few dysmorphic characteristics. Speech delay, learning difficulties, attention deficit hyperactivity disorder, bipolar disorder and aggressiveness have been reported." "" + "14q12 microdeletion syndrome" "14q12 microdeletion syndrome is a recently described syndrome characterized by severe intellectual deficit, with a normal neonatal period, followed by a phase of regression at the age of 3-6 months." "" + "16p11.2p12.2 microduplication syndrome" "16p11.2p12.2 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial duplication of the short arm of chromosome 16 with a highly variable phenotype typically characterized by developmental/psychomotor delay (particularly of speech), intellectual disability, autism spectrum disorder and/or obsessive and repetitive behaviour, behavioural problems (such as aggression and outbursts), dysmorphic facial features (triangular face, deep set eyes, broad and prominent nasal bridge, upslanting or narrow palpebral features, hypertelorism). Additionally, finger/hand anomalies, short stature, microcephaly and slender build are frequently described." "" + "14q11.2 microduplication syndrome" "14q11.2 microduplication syndrome is a rare chromosomal anomaly characterized by developmental delay, mild to severe intellectual disability with speech impairment and epilepsy. Additionally, it may include dysmorphic features (such as hypo- or hypertelorism, dysplastic ears, short palpebral fissures), microcephaly or macrocephaly, behavioral abnormalities, stereotyped hand movements, ataxia, hypotonia, cleft palate." "" + "16p13.11 microdeletion syndrome" "16p13.11 microdeletion syndrome is a recently described syndrome characterized by developmental delay, microcephaly, epilepsy, short stature, facial dysmorphism and behavioral problems." "" + "16p13.11 microduplication syndrome" "16p13.11 microduplication syndrome is a recently described syndrome associated with variable clinical features including behavioral abnormalities, developmental delay, congenital heart defects and skeletal anomalies." "" + "16q24.3 microdeletion syndrome" "16q24.3 microdeletion syndrome is a recently described syndrome associated with variable developmental delay, facial dysmorphism, seizures and autistic spectrum disorder." "" + "partial deletion of the long arm of chromosome 16" "" + "distal 17p13.3 microdeletion syndrome" "Distal 17p13.3 microdeletion syndrome is a rare partial monosomy of the short arm of chromosome 17 with a variable phenotype characterized by prenatal and postnatal growth retardation, developmental delay, mild intellectual disability, macrocephaly, mild facial dysmorphisms including prominent forehead, hypertelorism, thick upper and/or lower lip vermillion, and structural abnormalities of the brain variably including white matter abnormalities, prominent Virchow-Robin spaces, Chiari I malformation, corpus callosum hypoplasia, but no lissencephaly." "" + "trisomy 17p" "Trisomy 17p is a rare chromosomal abnormality resulting from the duplication of the short arm of chromosome 17 and characterized by pre- and post-natal growth retardation, developmental delay, hypotonia, digital abnormalities, congenital heart defects, and distinctive facial features." "" + "20p12.3 microdeletion syndrome" "20p12.3 microdeletion syndrome is a recently described syndrome characterized by Wolff-Parkinson-White syndrome, variable developmental delay and facial dysmorphism." "" + "partial monosomy of the short arm of chromosome 20" "" + "paternal 20q13.2q13.3 microdeletion syndrome" "Paternal 20q13.2q13.3 microdeletion syndrome is a recently described syndrome characterized by severe pre- and post-natal growth retardation, microcephaly, intractable feeding difficulties, mild psychomotor retardation, hypotonia and facial dysmorphism." "" + "partial deletion of the long arm of chromosome 20" "" + "20q13.33 microdeletion syndrome" "20q13.33 is a rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 20 with a highly variable phenotype typically characterized by hypotonia, intellectual disability, cognitive and language deficits (including decreased or absent speech), pre and post-natal growth retardation, feeding difficulties, microcephaly, and malformed hands and feet. Neurodevelopmental disorders (including hyperactivity, social interactive problems and autism spectrum disorder), seizures and dysmorphic facial features (high forehead, hypertelorism, malformed ears, broad nasal bridge, bulbous nasal tip, thin upper lip, small chin) are frequently associated." "" + "trisomy 20p" "Trisomy 20p is a chromosomal disorder resulting from duplication of all or part of the short arm of chromosome 20. It is mostly characterized by normal growth, mild to moderate intellectual disability, speech delay, poor coordination and evocative facial features." "" + "partial trisomy of chromosome 20" "" + "21q22.11q22.12 microdeletion syndrome" "" + "partial deletion of the long arm of chromosome 21" "" + "distal 22q11.2 microduplication syndrome" "Distal 22q11.2 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 22, with a highly variable phenotype principally characterized by developmental delay, intellectual disability, hypotonia, growth retardation, velopharyngeal insufficiency, mild craniofacial dysmorphism (microcephaly, tall/broad forehead, small downslating palpebral fissures, hooded eyelids, flat nasal bridge, low posterior hairline) and digital anomalies. Congenital heart malformations, visual and hearing impairment, urogenital abnormalities, behavourial problems and seizures have also been reported." "" + "trisomy 1q" "Trisomy 1q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 1, with a highly variable phenotype principally characterized by intellectual disability, short stature, craniofacial dysmorphism (incl. macro/microcephaly, prominent forehead, posteriorly rotated, low-set ears, abnormal palpebral fissures, microphthalmia, broad, flat nasal bridge, high-arched palate, micro/retrognathia), cardiac defects and urogenital anomalies. Patients may also present cerebral (e.g. ventriculomegaly) and gastrointestinal malformations, as well as dystonic tremor and recurrent respiratory tract infections." "" + "juvenile temporal arteritis" "Juvenile temporal arteritis is a rare form of vasculitis, a group of conditions that cause inflammation of the blood vessels. Unlike the classic form of temporal arteritis, this condition is generally diagnosed in late childhood or early adulthood and only affects the temporal arteries (located at the lower sides of the skull, directly underneath the temple). Affected people often have no signs or symptoms aside from a painless nodule or lump in the temporal region. The exact underlying cause of the condition is unknown. It generally occurs sporadically in people with no family history of the condition. Juvenile temporal arteritis is often treated with surgical excision and rarely recurs." "" + "obsolete Nakajo-Nishimura syndrome" "" "true" + "atypical Norrie disease due to monosomy Xp11.3" "Atypical Norrie disease due to monosomy Xp11.3 is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the short arm of chromosome X, principally characterized by classical Norrie disease (bilateral, severe retinal malformations and opacity of the lens leading to congenital blindness, on occasion associated with progressive sensorineural deafness and intellectual disability), microcephaly, hypotonia, psychomotor and growth delay, moderate to severe mental handicap and disruptive behaviour. Clinical phenotype is highly variable and immunodeficiency, epilepsy and hypogonadism have also been reported." "" + "maternal uniparental disomy of chromosome X" "" + "uniparental disomy of chromosome X" "" + "paternal uniparental disomy of chromosome X" "" + "ring chromosome Y" "Ring chromosome Y is a rare chromosome Y structural anomaly, with a highly variable phenotype, mostly characterized by short stature, partial to total gonadal failure, sexual infantilism, genital anomalies (e.g. ambiguous genitalia, hypospadias, cryptorchidism), and azoospermia or oligozoospermia. Additional reported features include speech delay, obesity, and acanthosis nigricans. Gender dysphoria and comorbid bipolar disorder have also been observed." "" + "49,XXXYY syndrome" "49, XXXYY syndrome is a chromosome abnormality that occurs when a male inherits two extra copies of the X chromosome and one extra copy of the Y chromosome. The condition is extremely rare with only a handful of cases reported in the medical literature. Signs and symptoms associated with these cases include severe intellectual disability, distinctive facial features, normal to tall stature, gynecomastia, hypogonadism, and behavioral abnormalities. 49, XXXYY syndrome is likely caused by a mistake (called nondisjunction) that occurs at conception or during the formation of the sperm and/or egg. Treatment is based on the signs and symptoms present in each person." "" + "Mowat-Wilson syndrome due to monosomy 2q22" "" + "Mowat-Wilson syndrome due to a ZEB2 point mutation" "" + "blepharophimosis-epicanthus inversus-ptosis due to 3q23 rearrangement syndrome" "Blepharophimosis - epicanthus inversus - ptosis (BPES) due to 3q23 microdeletion is a form of BPES, which in addition to the classical eyelids features of BPES, present genitourinary anomalies, spastic diplegia and speech delay." "" + "blepharophimosis-epicanthus inversus-ptosis due to a point mutation syndrome" "Blepharophimosis-epicanthus inversus-ptosis (BPES) due to a point mutation is a form of BPES, characterized by the classical eyelid malformation (blepharophimosis, ptosis, epicanthus inversus, and telecanthus) which may be accompanied by growth retardation and primary ovary failure." "" + "blepharophimosis-epicanthus inversus-ptosis due to copy number variations" "Blepharophimosis - epicanthus inversus - ptosis (BPES) due to polyA expansion is a form of BPES, characterized by the classical eyelid malformation (blepharophimosis, ptosis, epicanthus inversus, and telecanthus) which may be associated with a mild ovarian involvement." "" + "familial adenomatous polyposis due to 5q22.2 microdeletion" "" + "Alagille syndrome due to 20p12 microdeletion" "" + "Alagille syndrome due to a JAG1 point mutation" "" + "Okihiro syndrome due to 20q13 microdeletion" "" + "Okihiro syndrome due to a point mutation" "" + "Kleefstra syndrome due to a point mutation" "" + "partial deletion of chromosome 1" "" + "partial autosomal monosomy" "" + "partial deletion of chromosome 2" "" + "partial deletion of chromosome 3" "" + "partial deletion of chromosome 4" "" + "partial deletion of chromosome 5" "" + "partial deletion of chromosome 6" "" + "partial deletion of chromosome 7" "" + "partial deletion of chromosome 8" "" + "partial deletion of chromosome 10" "" + "partial deletion of chromosome 11" "" + "partial deletion of the long arm of chromosome 12" "" + "partial deletion of chromosome 12" "" + "partial deletion of chromosome 16" "" + "partial deletion of chromosome 17" "" + "partial deletion of chromosome 18" "" + "partial deletion of chromosome 19" "" + "partial deletion of chromosome 20" "" + "obsolete partial deletion of the short arm of chromosome 4" "" "true" + "partial deletion of the short arm of chromosome 7" "Chromosome 7p deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the short arm (p) of chromosome 7. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 7p deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person." "" + "obsolete partial deletion of the short arm of chromosome 9" "" "true" + "obsolete partial monosomy of the short arm of chromosome 17" "" "true" + "obsolete partial deletion of the long arm of chromosome 22" "" "true" + "partial duplication of chromosome 1" "" + "partial autosomal trisomy/tetrasomy" "" + "partial duplication of chromosome 2" "" + "partial duplication of chromosome 3" "" + "partial duplication of chromosome 4" "" + "partial trisomy/tetrasomy of chromosome 5" "" + "obsolete Geleophysic dysplasia" "" "true" + "partial duplication of chromosome 6" "" + "partial duplication of chromosome 7" "" + "partial duplication of chromosome 8" "" + "partial trisomy/tetrasomy of chromosome 9" "" + "partial duplication of chromosome 10" "" + "partial duplication of chromosome 11" "" + "partial duplication of chromosome 12" "" + "partial duplication of chromosome 16" "" + "partial duplication of chromosome 17" "" + "partial trisomy/tetrasomy of chromosome 18" "" + "partial duplication of chromosome 19" "" + "partial duplication of the short arm of chromosome 2" "Chromosome 2p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 2. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 2p duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Most cases are not inherited, but people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person." "" + "partial duplication of the short arm of chromosome 3" "Chromosome 3p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 3. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 3p duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Chromosome 3p duplication can be de novo or inherited from a parent with a balanced translocation. Treatment is based on the signs and symptoms present in each person." "" + "partial duplication of the long arm of chromosome 2" "Chromosome 2q duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the long arm (q) of chromosome 2. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 2q duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Most cases are not inherited, but people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person." "" + "partial duplication of the long arm of chromosome 4" "Chromosome 4q duplication is a chromosome abnormality characterized by an extra copy (duplication) of genetic material on the long arm (q) of chromosome 4. The severity and specific symptoms depend on the size and location of the duplication, and which genes are involved. Features that have been described in some people with chromosome 4q duplication include developmental delay, intellectual disability, behavioral problems, birth defects, and distinctive facial features. Most cases are inherited from an unaffected parent with a chromosomal rearrangement called a balanced translocation. Some cases are not inherited and occur sporadically. Treatment is based on the signs and symptoms present in each person." "" + "partial duplication of the long arm of chromosome 6" "Chromosome 6q duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the long arm (q) of chromosome 6. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 6q duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. In most cases, chromosome 6q duplication occurs de novo or is inherited from a parent with a chromosomal rearrangement such as a balanced translocation. Rarely, it is inherited from a parent with the same duplication. Treatment is based on the signs and symptoms present in each person." "" + "partial trisomy of the long arm of chromosome 9" "" + "partial duplication of the long arm of chromosome 11" "" + "partial trisomy of the long arm of chromosome 16" "" + "partial trisomy of the long arm of chromosome 20" "" + "obsolete thymoma type A" "" "true" + "well-differentiated thymic neuroendocrine carcinoma" "" + "moderately-differentiated thymic neuroendocrine carcinoma" "" + "poorly differentiated thymic neuroendocrine carcinoma" "" + "MRCS syndrome" "MRCS syndrome is a rare, genetic retinal dystrophy disorder characterized by bilateral microcornea, rod-cone dystrophy, cataracts and posterior staphyloma, in the absence of other systemic features. Night blindness is typically the presenting manifestation and nystagmus, strabismus, astigmatism and angle closure glaucoma may be associated findings. Progressive visual acuity deterioration, due to pulverulent-like cataracts, results in poor vision ranging from no light perception to 20/400." "" + "infantile spams-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome" "" + "Bartter syndrome with hypocalcemia" "Bartter syndrome with hypocalcemia is a type of Bartter syndrome characterized by hypocalcemia, hypomagnesemia and hypoparathyroidism along with features of Henle's loop dysfunction (polyuria, hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II). Bartter syndrome with hypocalcemia is a very rare manifestation of autosomal dominant hypocalcemia (ADH)" "" + "nevus of Ota" "Nevus of Ota is an oculodermal melanocytosis more commonly found in Asian and African populations, usually present at birth and characterized by a usually unilateral, bluish gray, patchy, speckled pigmentation (that may progressively enlarge and darken) affecting the skin of the face along the distribution of the ophthalmic and maxillary divisions of the trigeminal nerve (periorbital region, temple, forehead, malar area, nose). In 2/3 cases the ipsilateral sclera is affected. Nevus of Ota usually remains stable once adulthood is reached but an increased risk of glaucoma and uveal melanoma may be observed. Extracutaneous lesions may also occur in cornea, retina, tympanum, nasal mucosa, pharynx, palate. Nevus of Ota occurs as solitary conditions but seldom may occur together with the nevus of Ito or nevus spilus." "" + "nevus of Ito" "Nevus of Ito is a benign dermal melanocytosis occurring most frequently in the Asian populations and characterized by unilateral, asymptomatic, blue, gray or brown skin pigmentation within the acromioclavicular and upper chest area (involving the side of the neck, the supraclavicular and scapular areas, and the shoulder region). It is usually diagnosed in early infancy and in early adolescence. Nevus of Ito may progressively enlarge and darken in color (particularly with puberty) and its appearance usually remains stable once adulthood is reached. Spontaneous regression does not occur. Malignant melanoma has rarely been reported within a nevus of Ito. It shares the clinical features of nevus of Ota, except its anatomic location and may in rare occasions occur together with the latter." "" + "congenital smooth muscle hamartoma" "Congenital smooth muscle hamartoma (CSMH) is a rare cutaneous hamartomatous lesion most often located on the lumbosacral area or proximal limbs (but rarely on atypical areas such as scalp, eyelid or foot) and characterized by a disorganized proliferation of smooth muscle fibres of arrector pili presenting usually as a localized skin-colored or hyperpigmented plaque (up to 10 cm in diameter) with prominent vellus hairs (most common classic form) or less commonly by multiple skin-colored papules that can coalesce to form irregularly shaped plaques. With time, hyperpigmentation and vellus hairs usually diminish and neither malignant transformation nor associated systemic involvement has been reported." "" + "hyperinsulinism due to HNF4A deficiency" "Hyperinsulinism due to HNF4A deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI), characterized by macrosomia, transient or persistent hyperinsulinemic hypoglycemia (HH), responsiveness to diazoxide and a propensity to develop maturity-onset diabetes of the young subtype 1 (MODY-1)." "" + "Fuchs heterochromic iridocyclitis" "Fuchs heterochromic iridocyclitis (FHI) is an ocular disease of unknown etiology occurring in a very small percentage (0.5-6.2%) of uvietis cases, characterized by diffuse iris heterochromia or atrophy, keratic precipitates in the absence of synechiae, and in some cases evolving to glaucoma and vitreous opacities." "" + "acquired prothrombin deficiency" "An instance of prothrombin deficiency that is acquired during the lifetime of the individual." "" + "obsolete peeling skin syndrome type B" "" "true" + "generalized peeling skin syndrome type C" "" + "familial multiple meningioma" "Familial multiple meningioma is a rare, benign neoplasm of the central nervous system characterized by the development of multiple or, rarely, solitary meningiomas in two or more blood relatives, without other apparent syndromic manifestations. Depending on the localization, growth rate and size of the tumors, patients can present with subtle, gradually worsening or abrupt and severe neurological compromise or can be completely asymptomatic." "" + "NK-cell enteropathy" "Natural killer (NK)-cell enteropathy is a benign NK-cell lymphoproliferative disease characterized by minor abdominal symptoms (abdominal pain, diverticulosis, constipation and reflux) due to NK cell-derived lesions in the mucosal layer of the gastrointestinal tract and often mistaken for NK or T-cell lymphoma." "" + "obsolete hereditary epidermolysis bullosa associated with ocular features" "" "true" + "gonosome number anomaly" "" + "obsolete X chromosome number anomaly with female phenotype" "" "true" + "obsolete X chromosome number anomaly with male phenotype" "" "true" + "partial deletion of chromosome X" "" + "chromosome X structural anomaly" "" + "partial duplication of chromosome X" "" + "partial duplication of the short arm of chromosome 1" "" + "trisomy 8p" "Trisomy 8p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 8, with highly variable phenotype ranging from no dysmorphic features and only mild intellectual disability to patients with severe developmental delay, neonatal hypotonia, short stature, profound intellectual disability, mild dysmorphic features (e.g. mild ptosis, hypertelorism, down-slanting palpebral fissures, broad nasal bridge, short, prominent philtrum, abnormal dentition) and structural brain abnormalities. Autism, epilepsy, and spastic paraplegia have also been reported." "" + "interstitial lung disease specific to childhood" "A interstitial lung disease that occurs during childhood." "" + "isolated pulmonary capillaritis" "Isolated pauciimmune pulmonary capillaritis is a small vessel vasculitis restricted to the lungs that may induce diffuse alveolar hemorrhage with dyspnea, anemia, chest pain, hemoptysis, bilateral and diffuse alveolar infiltrates at chest X-rays, without any underlying systemic disease. ANCA are frequently positive but could be negative." "" + "secondary interstitial lung disease specific to childhood associated with a systemic vasculitis" "True" + "interstitial lung disease specific to adulthood" "" + "Langerhans cell histiocytosis specific to adulthood" "Langerhans cell histiocytosis that occurs during adulthood." "" + "interstitial lung disease in childhood and adulthood" "" + "secondary interstitial lung disease in childhood and adulthood" "" + "Langerhans cell histiocytosis in childhood and adulthood" "" + "drug or radiation exposure-related interstitial lung disease" "" + "exposure-related interstitial lung disease" "" + "osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome" "Osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome is characterized by severe dwarfism, progressive scoliosis and bilateral dislocation of the hip, associated with sensorineural deafness and retinitis pigmentosa. Radiographs show diffuse osteoporosis, severe bone-age delay and dysplasia of the femoral head. It has been described in two patients. Transmission is autosomal dominant variable penetrance." "" + "adult familial nephronophthisis-spastic quadriparesia syndrome" "This syndrome, associating familial adult medullary cystic disease with spastic quadriparesis has been described in two cases so far. Renal transplantation was successful in those two patients." "" + "neuroectodermal-endocrine syndrome" "Neuroectodermal-endocrine syndrome is characterised by a combination of endocrine and neuroectodermal abnormalities, including low growth hormone levels, delayed puberty, type II diabetes mellitus, mild intellectual deficit, sensorineural deafness, characteristic facial appearance and alopecia. It has been described in four sibs from Myanmar." "" + "neuroepithelioma" "Peripheral neuroepithelioma is a rare noncentral nervous system tumor with evidence of primitive neuroectodermal differentiation." "" + "infantile axonal neuropathy" "" + "pseudomyxoma peritonei" "Pseudomyxoma peritonei is characterized by disseminated intra-peritoneal mucinous tumors and mucinous ascites in the abdomen and pelvis." "" + "intraocular medulloepithelioma" "Intraocular medulloepithelioma is a rare eye tumor characterized by a white, gray or yellow-colored cystic mass that arises from the primitive neuroectodermal, nonpigmented epithelium of the ciliary body, or occasionally from the optic nerve, optic disc, retina or iris. Typically it has a benign clinical course with good prognosis and generally presents with childhood onset of poor vision and pain, glaucoma, and/or cataract. Leukocoria, exotropia, exophthalmos, strabismus, epiphora, change in eye color, hyphema, and raised intraocular pressure are also remarkable manifestations." "" + "classic maple syrup urine disease" "Classic maple syrup urine disease (classic MSUD) is the most severe and probably common form of MSUD characterized by a maple syrup odor in the cerumen at birth, poor feeding, lethargy and focal dystonia, followed by progressive encephalopathy and central respiratory failure if untreated." "" + "intermittent maple syrup urine disease" "Intermittent maple syrup urine disease (intermittent MSUD) is a mild form of MSUD where patients (when well) are asymptomatic with normal levels of branched-chain amino acids (BCAAs) but with catabolic stress are at risk of acute decompensation with ketoacidosis, which can lead to cerebral edema and coma if untreated." "" + "thiamine-responsive maple syrup urine disease" "Thiamine-responsive maple syrup urine disease (thiamine-responsive MSUD) is a less severe variant of MSUD that manifests with a phenotype similar to intermediate MSUD but that responds positively to treatment with thiamine." "" + "mycophenolate mofetil embryopathy" "Mycophenolate mofetil (MMF) embryopathy is a malformative syndrome due to the teratogenic effect of MMF, an effective immunosuppressive agent widely used for the prevention of organ rejection after organ transplantation." "" + "DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion" "" + "intermediate Charcot-Marie-Tooth disease" "" + "open iniencephaly" "" + "iniencephaly" "Iniencephaly is a rare form of neural tube defect in which a malformation of the cervico-occipital junction is associated with a malformation of the central nervous system." "" + "closed iniencephaly" "" + "spina bifida aperta" "" + "total spina bifida aperta" "" + "thoracolumbosacral spina bifida aperta" "" + "lumbosacral spina bifida aperta" "" + "cervical spina bifida aperta" "" + "cervicothoracic spina bifida aperta" "" + "upper thoracic spina bifida aperta" "" + "total spina bifida cystica" "" + "myelomeningocele" "Myelomeningocele is the most severe form of spina bifida. It happens when parts of the spinal cord and nerves come through the open part of the spine. It causes nerve damage and other disabilities. Seventy to ninety percent of children with this condition also have too much fluid on their brains (hydrocephalus). This happens because fluid that protects the brain and spinal cord is unable to drain like it should. The fluid builds up, causing pressure and swelling. Without treatment, a persons head grows too big, and theymay have brain damage. Other disorders of the spinal cord may be seen, including syringomyelia and hip dislocation. The cause of myelomeningocele is unknown. However, low levels of folic acid in a woman's body before and during early pregnancy is thought to play a part in this type of birth defect." "" + "thoracolumbosacral spina bifida cystica" "" + "lumbosacral spina bifida cystica" "" + "cervical spina bifida cystica" "" + "cervicothoracic spina bifida cystica" "" + "upper thoracic spina bifida cystica" "" + "posterior meningocele" "Posterior meningocele is a rare neural tube closure defect characterized by the herniation of a cerebrospinal fluid-filled sac, that is lined by dura and arachnoid mater, through a posterior spina bifida and covered by a layer of skin of variable thickness, which may be dysplastic or ulcerated. The spinal cord and nerves are generally not included and function normally, although sometimes a tethered cord may be associated. They are most commonly located in the lumbar or sacral region." "" + "myelocystocele" "" + "meningoencephalocele" "A congenital abnormality in which the meninges protrude through a defect in the cranium." "" + "occipital encephalocele" "" + "parietal encephalocele" "" + "basal encephalocele" "" + "obsolete lipoma associated with neurospinal dysraphism" "" "true" + "leptomyelolipoma" "Leptomyelolipoma is a rare neural tube closure defect characterized by an abnormally low lying conus which is tethered by a lumbosacral lipomatous mass (containing fatty tissue, nerve fibers, meningeal strands and fibrous bands) which engulfs the filum terminale and varying numbers of dorsal and ventral nerve root components, typically producing sensory, motor, bowel and/or bladder dysfunction. Cutaneous stigmata, absent or reduced reflexes and foot defomities (e.g. talipes cavovalgus) are frequently present." "" + "obsolete malformation of the neurenteric canal, spinal cord and column" "" "true" + "primary tethered cord syndrome" "Primary tethered cord syndrome is a genetic, non-syndromic congenital malformation of the neurenteric canal, spinal cord and column characterized by progressive neurologic deterioration (pain, sensorimotor deficits, abnormal gait, decreased tone or abnormal reflexes), musculoskeletal changes (foot deformities and asymmetry, muscle atrophy, limb weakness and numbness, gait disturbances, scoliosis) and/or genitourinary manifestations (bladder and bowel dysfunction). Midline cutaneous stigmata in the lumbosacral region, such as turfs of hair, skin appendages, dimples, subcutaneous lipomas, skin discoloration or hemangiomas, are frequently associated." "" + "neurenteric cyst" "" + "isolated amyelia" "" + "isolated megalencephaly" "A megalencephaly (disease) that is not part of a larger syndrome." "" + "unilateral focal polymicrogyria" "Unilateral focal polymicrogyria (BFPP) is the mildest sub-type of polymicrogyria (PMG), a cerebral cortical malformation characterized by excessive cortical folding and abnormal cortical layering, that affects only one small region of the brain and that may show no neurologic involvement." "" + "isolated focal cortical dysplasia type I" "" + "isolated focal cortical dysplasia type Ia" "" + "isolated focal cortical dysplasia type Ib" "" + "isolated focal cortical dysplasia type Ic" "" + "obsolete facioscapulohumeral dystrophy" "" "true" + "neutropenia-monocytopenia-deafness syndrome" "Neutropenia-monocytopenia-deafness syndrome is characterised by neutropenia with myeloid marrow hypoplasia, monocytopenia, and congenital deafness. It has been described in three siblings who suffered recurrent bacterial infections." "" + "isolated focal cortical dysplasia type IIa" "" + "isolated focal cortical dysplasia type IIb" "" + "glioependymal/ependymal cyst" "Glioependymal/ependymal cyst is a rare central nervous system malformation defined as a subarachnoid, supratentorial, interventricular or intraspinal, sometimes intracerebral or intramedullar cyst with an internal ependymal lining, possibly surrounded by glial tissue. It may be an incidental finding or may present at different ages with clinical features depending on its size and location. It may distort adjacent brain structures and cause macrocephaly, ventriculomegaly, hydrocephalus, focal neurological signs and other signs and symptoms. In some cases, it is associated with other cerebral malformations (e.g. corpus callosum agenesis, polymicrogyria, heterotopias)." "" + "retrocerebellar cyst" "" + "isolated cerebellar vermis agenesis" "" + "isolated total cerebellar vermis agenesis" "" + "isolated partial cerebellar vermis agenesis" "" + "isolated Dandy-Walker malformation with hydrocephalus" "" + "isolated Dandy-Walker malformation without hydrocephalus" "" + "isolated unilateral hemispheric cerebellar hypoplasia" "Isolated unilateral hemispheric cerebellar hypoplasia is a rare, non-syndromic cerebellar malformation characterized by loss of volume in the right or left cerebellar hemisphere, with intact vermis and no other neurological anomalies (i.e. normal cerebral hemispheres, fourth ventricle, pons, medulla and midbrain). Patients may be asymptomatic or may present developmental and speech delay, hypotonia, abnormal ocular movements, persistent headaches and/or peripheral vertigo and ataxia. Neurological examination is otherwise normal." "" + "malformation of the cerebellar hemispheres" "" + "isolated bilateral hemispheric cerebellar hypoplasia" "Isolated bilateral hemispheric cerebellar hypoplasia is a rare cerebellar malformation characterized by hypoplasia of both cerebellar hemispheres with no other cerebellar/cerebral anomaly or other associated clinical feature. Affected patients present with mild hypotonia with motor delay, mild cognitive impairment, language delay, visuospatial and verbal memory deficits, dysdiadochokinesis, intentional tremor, and possible presence of emotional fragility and mild depression." "" + "obsolete bifid nose" "" "true" + "congenital communicating hydrocephalus" "" + "congenital non-communicating hydrocephalus" "" + "obsolete other syndrome with a central nervous system malformation as major feature" "True" "true" + "obsolete genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature" "True" "true" + "noma" "Noma is a gangrenous disease that causes severe destruction of the soft and osseous tissues of the face." "" + "obsolete oculofaciocardiodental syndrome" "" "true" + "oculo-skeletal-renal syndrome" "" + "obsolete genetic systemic or rheumatologic disease" "" "true" + "odonto-onycho dysplasia-alopecia syndrome" "Odonto-onycho dysplasia-alopecia syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by almost total alopecia with only sparse, thin, brittle, slow-growing scalp hair, fair and sparse eyebrows and eyelashes, absent axillary and pubic hair, fragile and brittle fingernails, thick and brittle toenails (both with a subungual corneal layer), hypodontia, microdontia, widely spaced teeth with hypoplastic enamel, mild palmoplantar keratosis, cafe-au-lait spots and areolae anomalies. There have been no further descriptions in the literature since 1985." "" + "olivopontocerebellar atrophy-deafness syndrome" "Olivopontocerebellar atrophy-deafness syndrome is characterised by infancy-onset olivopontocerebellar atrophy, sensorineural deafness and speech impairment. It has been described in less than 15 children. Most cases were sporadic, but autosomal recessive inheritance was suggested in three cases." "" + "obsolete hemorrhagic disorder due to a constitutional thrombocytopenia" "" "true" + "obsolete hemorrhagic disorder due to a qualitative platelet defect" "True" "true" + "idiopathic pulmonary arterial hypertension" "Idiopathic pulmonary arterial hypertension (IPAH) is a sporadic form of pulmonary arterial hypertension (PAH) characterized by elevated pulmonary arterial resistance leading to right heart failure. IPAH is progressive and potentially fatal and not associated with an underlying condition or family history of PAH." "" + "drug- or toxin-induced pulmonary arterial hypertension" "Drug- or toxin-induced pulmonary arterial hypertension (PAH) is a form of pulmonary arterial hypertension (PAH) secondary to the exposition to drugs. Drug- or toxin-induced PAH is characterized by elevated pulmonary arterial resistance leading to right heart failure. Drug or toxin induced PAH is progressive and potentially fatal." "" + "pulmonary arterial hypertension associated with another disease" "Pulmonary arterial hypertension associated with another disease is a group of conditions that lead to PAH; connective tissue diseases (lupus erythematosus, systemic sclerosis and mixed connective tissues disease), congenital heart disease (Eisenmenger syndrome), HIV infection, portal hypertension, schistosomiasis and chronic hemolytic anemia, which is characterized by elevated pulmonary arterial resistance leading to right heart failure that is progressive and potentially fatal." "True" + "pulmonary arterial hypertension associated with connective tissue disease" "Pulmonary arterial hypertension (PAH) associated with connective tissue disease (PAH-CTD) is a form of pulmonary arterial hypertension (PAH) characterized by an elevated pulmonary arterial resistance leading to right heart failure observed as a complication of a connective tissue disease." "True" + "pulmonary arterial hypertension associated with congenital heart disease" "Pulmonary arterial hypertension associated with congenital heart disease (PAH-CHD) is a form of pulmonary arterial hypertension (PAH), characterized by elevated pulmonary arterial resistance leading to right heart failure occurring as a common complication of congenital heart malformations with left to right cardiac shunts. Eisenmenger syndrome is the most advanced form of PAH-CHD and is defined as the complete or partial reversal of an initial left-to-right shunt to a right-to-left shunt, causing cyanosis and limited exercise capacity. PAH-CHD also includes mild to moderate systemic-to-pulmonary shunts with no cyanosis at rest, patients with small defects, and those with residual PAH following corrective cardiac surgery." "True" + "pulmonary arterial hypertension associated with HIV infection" "Pulmonary arterial hypertension (PAH) associated with HIV infection (PAH-HIV) is a form of PAH characterized by elevated pulmonary arterial resistance leading to right heart failure observed as a complication of HIV infection." "True" + "pulmonary arterial hypertension associated with portal hypertension" "Pulmonary arterial hypertension associated with portal hypertension (PAH-PH) is a form of pulmonary arterial hypertension (PAH), characterized by an elevated pulmonary arterial resistance leading to right heart failure observed as a complication of portal hypertension." "True" + "pulmonary arterial hypertension associated with schistosomiasis" "Pulmonary arterial hypertension associated with schistosomiasis (PAHS) is a form of pulmonary arterial hypertension characterized by an elevated pulmonary arterial resistance leading to right heart failure, observed as a complication of a chronic schistosomiasis." "True" + "pulmonary arterial hypertension associated with chronic hemolytic anemia" "Pulmonary arterial hypertension associated with chronic hemolytic anemia (PAH-CHA) is a form of PAH characterized by an elevated pulmonary arterial resistance leading to right heart failure observed as a complication of chronic hemolytic anemia." "True" + "pulmonary hypertension owing to lung disease and/or hypoxia" "" + "pulmonary hypertension with unclear multifactorial mechanism" "True" + "obsolete syndrome with pulmonary hypertension as a major feature" "True" "true" + "frontotemporal degeneration with dementia" "True" + "imperforate oropharynx-costo vetebral anomalies syndrome" "Imperforate oropharynx-costovertebral anomalies syndrome is a dysostosis with predominant vertebral and costal involvement characterized by oropharyngeal atresia, mild mandibulofacial dysostosis, auricular malformations, and costovertebral anomalies (hemivertebrae, block vertebra, partial fusion of the ribs, absent ribs). There have been no further descriptions in the literature since 1989." "" + "hemolytic disease due to fetomaternal alloimmunization" "True" + "hemolytic disease of the newborn with Kell alloimmunization" "" + "bile acid CoA ligase deficiency and defective amidation" "Bile acid CoA ligase deficiency and defective amidation is an anomaly of bile acid synthesis characterized by fat malabsorption, neonatal cholestasis and growth failure." "" + "obsolete rare tumor of salivary glands" "True" "true" + "malignant epithelial tumor of salivary glands" "" + "idiopathic recurrent stupor" "Idiopathic recurrent stupor is a rare neurologic disease characterized by unpredictable, transient and spontaneous unresponsiveness lasting from hours to days, with a frequency of three to seven attacks per year, in the absence of readily discernible toxic, metabolic or structural causes." "" + "mucopolysaccharidosis type 6, rapidly progressing" "" + "mucopolysaccharidosis type 6, slowly progressing" "" + "Machado-Joseph disease type 1" "Machado-Joseph disease type 1 is a rare, usually severe subtype of Machado-Joseph disease (SCA3/MJD) characterized by the presence of marked pyramidal and extrapyramidal signs." "" + "Machado-Joseph disease type 2" "Machado-Joseph disease type 2 is a subtype of Machado-Joseph disease (SCA3/MJD) with intermediate severity characterized by an intermediate age of onset, cerebellar ataxia and external progressive ophthalmoplegia, with variable pyramidal and extrapyramidal signs." "" + "Machado-Joseph disease type 3" "Machado-Joseph disease type 3 is a subtype of Machado-Joseph disease (SCA3/MJD) of milder severity characterized by late onset, slower progression, and peripheral amyotrophy." "" + "hemihyperplasia-multiple lipomatosis syndrome" "Hemihyperplasia-multiple lipomatosis syndrome is a rare, genetic overgrowth syndrome characterized by non- progressive, asymmetrical, moderate hemihyperplasia (frequently affecting the limbs) associated with slow growing, painless, multiple, recurrent, subcutaneous lipomatous masses distributed throughout entire body (in particular back, torso, extremities, fingers, axillae). Superficial vascular malformations may also be associated. Increased risk of intra-abdominal embryonal malignancies may be associated." "" + "osteochondritis dissecans" "A rare genetic skeletal disorder characterized clinically by abnormal chondro-skeletal development, disproportionate short stature and skeletal deformation mainly affecting the knees, hips, ankles and elbows with onset generally in late childhood or adolescence." "" + "osteonecrosis of genetic origin" "An instance of osteonecrosis that is caused by a modification of the individual's genome." "" + "limbic encephalitis with caspr2 antibodies" "Limbic encephalitis with caspr2 antibodies is a rare neuroimmunological disorder characterized by the onset of cognitive deficits, psychiatric disturbances (e.g. personality changes), seizures, peripheral nerve hyperexcitability, dysautonomia, neuropathic pain, insomnia and weight loss, in association with detection of caspr2 antibodies in serum or cerebrospinal fluid, with or without underlying malignancies. Other features reported include blepharoclonus, myoclonic status epilepticus, and dyskinesia." "" + "10q22.3q23.3 microduplication syndrome" "" + "hyperinsulinemic hypoglycaemia" "True" + "hyperinsulinism due to UCP2 deficiency" "HyHyperinsulism due to UCP2 deficiency (HIUCP2) is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI) characterized by hypoglycemic episodes from the neonatal period, a good clinical response to diazoxide and a probable transient nature of the disease with spontaneous resolution." "" + "autosomal dominant hyperinsulinism due to SUR1 deficiency" "Autosomal dominant hyperinsulinism due to SUR1 deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI), characterized by hypoglycemic epiosodes that are usually mild, escaping detection during infancy and usually a good clinical response to diazoxide. Autosomal dominant hyperinsulinism due to SUR1 deficiency usually has a milder phenotype when compared to that resulting from recessive K-ATP mutations (recessive forms of Diazoxide-resistant hyperinsulinism)." "" + "autosomal dominant hyperinsulinism due to Kir6.2 deficiency" "Autosomal dominant hyperinsulinism due to Kir6.2 deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI) characterized by hypoglycemic epiosodes that are usually mild, escaping detection during infancy, and usually a good clinical response to diazoxide, (but some are diazoxide resistant). Autosomal dominant hyperinsulinism due to Kir6.2 deficiency usually has a milder phenotype when compared to that resulting from recessive K+ (K-ATP) channel mutations (Recessive forms of diazoxide-resistant hyperinsulinism)." "" + "diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency" "" + "diazoxide-resistant focal hyperinsulinism" "Diazoxide-resistant focal hyperinsulism (DRFH) is a form of diazoxide-resistant hyperinsulinism characterized by recurrent episodes of profound hypoglycemia caused by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) due to a focal adenomatous hyperplasia of pancreas, that is unresponsive to medical treatment with diazoxide, necessitating complete excision of the focal lesion." "" + "diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency" "" + "adult-onset non-insulinoma persistent hyperinsulinemic hypoglycemia" "Diazoxide-resistant hyperinsulism (DRH) is form of congenital isolated hyperinsulinism caused by an abnormal insulin production by b-cells in the pancreas that can be diffuse or focal and is characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia), recurrent episodes of profound hypoglycemia and resistance to medical management with diazoxide" "" + "sporadic pheochromocytoma/secreting paraganglioma" "Sporadic pheochromocytoma/secreting paraganglioma are isolated, non-familial, catecholamin-producing tumors arising from neuroendocrine chromaffin cells in the adrenal medulla or in extra-adrenal chromaffin tissue, respectively. The majority of these tumors are benign and the presenting symptoms are typically caused by the increased catecholamine production of the tumor, including hypertension (often paroxysmal), tachycardia, anxiety and/or excessive sweating." "" + "sporadic pheochromocytoma" "" + "sporadic secreting paraganglioma" "" + "symptomatic form of Coffin-Lowry syndrome in female carriers" "" + "osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome" "Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome is characterized by osteogenesis imperfecta, wormian bones, optic atrophy, retinopathy, seizures and severe developmental delay. It has been described in two sibs born to consanguineous parents." "" + "osteopathia striata-pigmentary dermopathy-white forelock syndrome" "Osteopathia striata-pigmentary dermopathy-white forelock syndrome is characterised by the association of osteopathia striata (longitudinal striations through most of the long bones) with a macular, hyperpigmented dermopathy and a white forelock." "" + "osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome" "Osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome is characterised by osteoporosis, macrocephalus, brachytelephalangy, and hyperextensibility of the joints. Congenital amaurosis and intellectual deficit have also been reported. This syndrome has been described in three members of one family." "" + "polycystic ovaries-urethral sphincter dysfunction syndrome" "Polycystic ovaries-urethral sphincter dysfunction syndrome is characterised by urinary retention and incomplete emptying of the bladder associated with abnormal electromyographic activity. It has been described in 33 women, 14 of whom also had polycystic ovaries." "" + "Spasmus nutans" "Spasmus nutans (SN) is a rare eye disease characterized by the clinical triad of asymmetric and pendular nystagmus, head nodding, and torticollis." "" + "acute endophthalmitis" "Acute form of endophthalmitis." "" + "chronic endophthalmitis" "Chronic form of endophthalmitis." "" + "toxic maculopathy due to antimalarial drugs" "Toxic maculopathy due to antimalarial drugs is a rare, acquired eye disease, due to long-term exposure to chloroquinine (CQ) or hydrochloroquinine (HCQ), characterized by a slowly progressive, usually non-reversible, development of bilateral atrophic bull's-eye maculopathy (progressive loss of central vision acuity, reduced color vision and central scotoma), which in severe cases can spread over the entire fundus, leading to widespread retinal atrophy and visual loss." "" + "primary oculocerebral lymphoma" "Primary oculocerebral lymphoma is a rare, primary, organ-specific, extranodal non-Hodgkin's lymphoma (typically diffuse large B-cell lymphoma), simultaneously affecting the intraocular compartments (retina, vitreous, optic nerve, uvea and others) and the central nervous system (commonly the cerebellum, spinal cord or pia mater). The presenting symptoms vary depending on the localization of the tumor and may include vitreous floaters or blurred vision, raised intracranial pressure (headache, vomiting, papilledema) and/or focal neurological deficits." "" + "" "true" + "obsolete intermediate uveitis" "" "true" + "infectious posterior uveitis" "" + "infectious panuveitis" "" + "paraneoplastic uveitis" "" + "postorgasmic illness syndrome" "A rare condition in which a man develops flu-like symptoms after ejaculation (when semen is released from the penis). Specific symptoms can include extreme fatigue, weakness, feverishness or sweating, mood changes or irritability, memory or concentration problems, and/or a stuffy nose or itching eyes. Symptoms may occur within seconds, minutes, or a few hours after ejaculation. Most symptoms last for 2 to 7 days and go away on their own. The underlying cause of POIS is poorly understood. Some scientists believe it may be due to a semen allergy that causes an immediate hypersensitivity reaction. There is no standard treatment for POIS, but some men have been treated with SSRIs, antihistamines, and/or benzodiazepines. Hyposensitization therapy (decreasing the immune response by exposure to semen) reportedly improved symptoms in two men with POIS." "" + "calciphylaxis" "Calciphylaxis is a disease in which blood vessels (veins and arteries) become blocked by a build-up of calcium in the walls of the vessels, preventing blood from flowing to the skin or internal organs. The lack of blood flow (ischemia) damages healthy tissue and causes itto die (necrosis). The most obvious and frequent symptom of calciphylaxis is damage to the skin, as ulcers can developand become infected easily. Calciphylaxis can also affect fat tissue, internal organs, and skeletal muscle, causing infections, pain, and organ failure.These symptoms are often irreversible, and many individuals with calciphylaxis may not survive more thana few months after they are diagnosed due to infection that spreads throughout the body (sepsis), or organ failure. The exact cause of calciphylaxis is unknown. Treatments may include medications to reduce pain, antibiotics to treat infections, and various approaches to preventing the development or worsening of this condition." "" + "calciphylaxis cutis" "Calciphylaxis cutis is a life-threatening syndrome characterized by progressive and painful skin ulcerations associated with media calcification of medium-size and small cutaneous arterial vessels. It affects mainly patients on dialysis or after renal transplantation." "" + "visceral calciphylaxis" "Visceral calciphylaxis is a rare, life-threatening, non-inflammatory vasculopathy disorder characterized by diffuse precipitation of calcium in viscera (mainly in the heart or lungs, but also in the stomach or kidneys) leading to fibrosis and thrombosis, which eventually cause necrotic ulcerations of the tissue. Patients may present with dyspnea, cough and respiratory failure or acute heart block and subsequent sudden cardiac death, depending on the affected organ. The disease mainly affects patients on dialysis or patients having undergone renal transplantation." "" + "laryngotracheoesophageal cleft type 0" "Laryngo-tracheo-esophageal cleft (LC) type 0 is a congenital respiratory tract anomaly characterized by a submucosal laryngo-tracheo-esophageal cleft with minor symptoms or an asymptomatic course." "" + "Pelizaeus-Merzbacher disease, connatal form" "The connatal form of Pelizaeus-Merzbacher disease (PMD) is the most severe form of PMD." "" + "Pelizaeus-Merzbacher disease, classic form" "The classic form of Pelizaeus-Merzbacher disease (PMD) is the infantile form of PMD." "" + "Pelizaeus-Merzbacher disease, transitional form" "The transitional form of Pelizaeus-Merzbacher disease (PMD) is the intermediate form of PMD." "" + "Pelizaeus-Merzbacher disease in female carriers" "Pelizaeus-Merzbacher disease (PMD) in female carriers is the presentation of PMD in some women carrying mutations in the PLP1 gene (Xq22)." "" + "null syndrome" "The null syndrome is part of the Pelizaeus-Merzbacher disease (PMD) spectrum and is characterized by mild PMD features associated with demyelinating peripheral neuropathy." "" + "autoimmune pancreatitis type 1" "Type 1 autoimmune pancreatitis is a form of autoimmune pancreatitis seen in elderly males (>60 years) and presenting with abdominal pain, steatorrhea, obstructive jaundice and other organ (bile duct, kidneys and retroperitoneum) involvement. It is thought to be due to an immunoglobulin G4 (IgG4)-associated systemic disease." "" + "autoimmune pancreatitis type 2" "Type 2 autoimmune pancreatitis is a form of autoimmune pancreatitis (see this term) affecting both sexes and having a younger age of onset (<60 years) and presenting with abdominal pain, steatorrhea and obstructive jaundice." "" + "distal monosomy 12p" "Distal monosomy 12p is a rare partial autosomal monosomy characterized by language development delay with childhood apraxia of speech, mild intellectual disability, behavourial abnormalities (autistic spectrum disorder, attention deficit hyperactivity disorder, anxiety) and mildly dysmorphic nonspecific features. Additional clinical features may include muscular hypotonia and joint laxity, hernias and microcephaly." "" + "partial deletion of the short arm of chromosome 12" "True" + "chromosome 12p deletion" "A cytogenetic abnormality that refers to the allelic loss of all or part of the short arm of chromosome 12." "" + "autosomal semi-dominant severe lipodystrophic laminopathy" "" + "erythropoietic uroporphyria associated with myeloid malignancy" "" + "recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome" "Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome is a rare, genetic, syndromic intellectual disabilty disorder characterized by severe intellectual disability, progressive, postnatal, multiple joint contractures and severe motor dysfunction. Patients present arrest and regression of motor function and speech acquisition, as well as contractures which begin in lower limbs and slowly progress in an ascending manner to include spine and neck, resulting in individuals presenting a specific fixed position." "" + "familial Alzheimer-like prion disease" "" + "familial omphalocele syndrome with facial dysmorphism" "Familial omphalocele syndrome with facial dysmorphism is a rare genetic developmental defect during embryogenesis characterized by omphalocele associated with facial dysmorphism including flat face, short, upturned nose, long and wide philtrum and flattened maxillary arch and abnormalities of hands." "" + "hereditary sensorimotor neuropathy with hyperelastic skin" "" + "hemoglobinopathy Toms River" "" + "familial progressive hyper- and hypopigmentation" "Familial progressive hyper- and hypopigmentation is a rare, genetic, skin pigmentation anomaly disorder characterized by progressive, diffuse, partly blotchy, hyperpigmented lesions that are intermixed with multiple café-au-lait spots, hypopigmented maculae and lentigines and are located on the face, neck, trunk and limbs, as well as, frequently, the palms, soles and oral mucosa. Dispigmentation pattern can range from well isolated café-au-lait/hypopigmented patches on a background of normal-appearing skin to confetti-like or mottled appearance." "" + "cutaneous collagenous vasculopathy" "Cutaneous collagenous vasculopathy (CCV) is a primary microangiopathy confined to the skin, characterized by multiple and widespread telangiectasias." "" + "bullous diffuse cutaneous mastocytosis" "Bullous diffuse cutaneous mastocytosis (BDCM) is a form of diffuse cutaneous mastocytosis (DCM) characterized by generalized erythroderma and severe blistering associated with the accumulation of mast cells in the skin." "" + "diffuse cutaneous mastocytosis" "Diffuse cutaneous mastocytosis (DCM) is a rare form of cutaneous mastocytosis (CM) characterized by generalized erythroderma, various degrees of blistering, skin with a ''peau d'orange'' appearance and the accumulation of mast cells in the skin. At least two DCM variants are recognized, one with extreme blistering (Bullous DCM) and one with infiltrations (Pseudoxanthomatous DCM)." "" + "pseudoxanthomatous diffuse cutaneous mastocytosis" "Pseudoxanthomatous diffuse cutaneous mastocytosis (PDCM) is a rare form of diffuse cutaneous mastocytosis (DCM) characterized by yellow-orange infiltrated and xanthogranuloma-like lesions with only limited blistering." "" + "intralobar congenital pulmonary sequestration" "" + "congenital pulmonary sequestration" "A rare congenital abnormality of the lungs. It consists of a mass of lung parenchyma that does not communicate with the bronchial tree and receives its blood supply from the systemic circulation instead of the pulmonary circulation." "" + "extralobar congenital pulmonary sequestration" "" + "communicating congenital bronchopulmonary-foregut malformation" "" + "congenital pulmonary airway malformation type 0" "" + "congenital pulmonary airway malformation type 1" "" + "congenital pulmonary airway malformation type 2" "" + "congenital pulmonary airway malformation type 3" "" + "congenital pulmonary airway malformation type 4" "" + "obsolete anterior uveitis" "" "true" + "obsolete posterior uveitis" "" "true" + "idiopathic anterior uveitis" "" + "idiopathic posterior uveitis" "Idiopathic posterior uveitis is a rare, potentially sight-threatening, ocular disease, not attributed to any specific ocular or systemic cause, characterized by focal, multifocal or diffuse non-infectious inflammation in the posterior uvea (i.e. choroiditis, chorioretinitis, retinitis and neuroretinitis). Visual morbidity due to complications (including cystoid macular edema and choroidal neovascularization) has been reported." "" + "inherited ichthyosis syndromic form" "A inherited ichthyosis that is part of a larger syndrome." "" + "syndromic recessive X-linked ichthyosis" "Syndromic recessive X-linked ichthyosis (RXLI) refers to the cases of RXLI that are associated with extracutaneous manifestations as part of a syndrome." "" + "acral self-healing collodion baby" "Acral self-healing collodion baby (SHCB) is a variant of SHCB characterized by the presence at birth of a collodion membrane only at the extremities." "" + "obsolete autosomal ichthyosis syndrome with other associated signs" "True" "true" + "spastic paraplegia-facial-cutaneous lesions syndrome" "Spastic paraplegia-facial-cutaneous lesions syndrome is a complex form of hereditary spastic paraplegia characterized by delays in motor development followed by a slowly progressive spastic paraplegia (affecting mainly lower extremities) associated with a desquamating facial rash with butterfly distribution (presenting at around two months of age) and dysarthria. There have been no further descriptions in the literature since 1982." "" + "demodicidosis" "Demodicidosis is a rare parasitic cutaneous disease due to Demodex mite infestation characterized by variable degrees of spinulosis, erythema, papules, and pustules, usually accompanied by a burning or pruritic sensation. Face (incl. eyelids) is most frequently affected, but ear canal, scalp, neck, back, chest, nipples, buttocks, penis, and extremity (legs and arms) involvement have also been observed. Dermoscopic examination reveals Demodex tails and follicular openings." "" + "renal caliceal diverticuli-deafness syndrome" "" + "alveolar echinococcosis" "Alveolar echinococcosis (AE) is a rare parasitic disorder that occurs after ingestion of eggs of Echinococcus multilocularis. AE is characterized by an initial asymptomatic incubation period of many years followed by a chronic course where the clinical manifestations include epigastric pain and jaundice." "" + "facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion" "" + "Xp22.13p22.2 duplication syndrome" "" + "penoscrotal transposition" "Penoscrotal transposition (PST) is a rare congenital genital anomaly in which the scrotum is positioned superior and anterior to the penis. PST may present with a broad spectrum of anomalies ranging from simple shawl scrotum (doughnut scrotum) to very complex extreme transposition with craniofacial, central nervous system, cardiac, gastrointestinal, urological, and other genital (undescended testicles, hypospadias, chordee) malformations. Growth deficiency and intellectual disability may also be noticed (60% of cases)." "" + "tempi syndrome" "TEMPI syndrome is a rare multi-systemic disease characterized by the presence of Telangiectasias, Erythrocytosis with elevated erythropoietin levels, Monoclonal gammopathy, Perinephric-fluid collections, and Intrapulmonary shunting." "" + "DICER1 syndrome" "A rare, autosomal dominant inherited syndrome caused by mutations in the DICER1 gene. People with this syndrome are at an increased risk of developing pleuropulmonary blastoma, cystic nephroma, Sertoli-Leydig cell tumor of the ovary, and multinodular goiter." "" + "fetal lung interstitial tumor" "" + "reversible cerebral vasoconstriction syndrome" "Reversible cerebral vasoconstriction syndrome (RCVS) is an infrequent cerebrovascular disorder characterized by severe headaches with or without focal neurological deficits or seizures, and a reversible segmental and multifocal vasoconstriction of cerebral arteries." "" + "well-differentiated fetal adenocarcinoma of the lung" "Well-differentiated fetal adenocarcinoma (WDFA) of the lung is a rare, primary, low-grade, bronchopulmonary neoplasm characterized by a well-circumscribed, usually large, pulmonary mass that is histologically composed of glycogen-rich neoplastic glands and tubules that resemble fetal lungs at 10 to 16 weeks of gestation and benign adjacent stroma. It typically presents with chest pain, cough, dyspnea, hemoptysis and/or generalized, non-specific symptoms, such as night sweats, lethargy, poor appetite and weight loss." "" + "obsolete small cell carcinoma of the bladder" "" "true" + "glycerol kinase deficiency, infantile form" "Infantile glycerol kinase deficiency (GKD) is a severe form of GKD characterized clinically by poor feeding, failure to thrive, salt-wasting dehydration, vomiting, Addisonian pigmentation, hypotonia, and disorders of consciousness. Some patients have complex GKD associated with adrenal hypoplasia congenita and/or Duchenne muscular dystrophy (DMD) with manifestations including intellectual deficit, dysmorphic facial features, abnormal external genitalia, strabismus, seizures, and progressive lethargy." "" + "isolated glycerol kinase deficiency" "Isolated glycerol kinase deficiency (GKD) is a very rare X-linked disorder of glycerol metabolism characterized biochemically by elevated plasma and urine glycerol levels, and clinically by variable neurometabolic manifestations, depending on the age of onset, and varying from a life-threatening childhood metabolic crisis to an asymptomatic adult form (infantile GKD, juvenile GKD, and adult GKD )." "" + "glycerol kinase deficiency, juvenile form" "Juvenile glycerol kinase deficiency (GKD) is an uncommon form of GKD characterized by Reye-like clinical manifestations including episodic vomiting, acidemia, and disorders of consciousness." "" + "glycerol kinase deficiency, adult form" "Adult glycerol kinase deficiency (GKD) is an uncommon form of GKD diagnosed fortuitously and characterized by pseudohypertriglyceridemia in otherwise healthy adults." "" + "chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids" "" + "acute zonal occult outer retinopathy" "Acute zonal occult outer retinopathy (AZOOR) is a rare condition that affects the eyes. People with this condition may experience a sudden onset of photopsia (the presence of perceived flashes of light) and an area of partial vision loss (a blindspot). Other symptoms may include 'whitening of vision' or blurred vision. Although anyone can be affected, the condition is most commonly diagnosed in young women (average age 36.7 years). The underlying cause of AZOOR is currently unknown; however, some researchers have proposed that infectious agents (such as viruses) or autoimmunity may play a role in the development of the condition. No treatment has been proven to improve the visual outcome of AZOOR; however, systemic corticosteroids are the most commonly used therapy." "" + "acute annular outer retinopathy" "" + "congenital pericardium anomaly" "Congenital pericardium anomaly comprises a group of rare congenital cardiac malformations characterized by the complete (Congenital complete agenesis of pericardium) or partial absence of the pericardium (Congenital partial agenesis of pericardium), or by the presence of pericardial cysts (Pleuropericardial cyst)." "" + "pericardial and diaphragmatic defect" "Pericardial and diaphragmatic defect is a rare combination of absent pericardium with congenital diaphragmatic defect." "" + "disorder of melanin metabolism" "" + "oculocutaneous or ocular albinism" "Albinism that affects the eyes, including ocular albinism and oculocutaneous albinism." "" + "inborn disorder of phenylalanin or tyrosine metabolism" "" + "obsolete Marfan syndrome type 2" "Hypothesized form of Marfan; dubious" "" "true" + "neonatal Marfan syndrome" "Neonatal Marfan syndrome is a rare, severe and life-threatening genetic disease, occuring during the neonatal period, characterized by classical Marfan syndrome manifestations in addition to facial dysmorphism (megalocornea, iridodonesis, ectopia lentis, crumpled ears, loose redundant skin giving a 'senile' facial appearance), flexion joint contractures, pulmonary emphysema, and a severe, rapidly progressive cardiovascular disease (including ascending aortic dilatation and severe mitral and/or tricuspid valve insufficiency). Additionally, skeletal manifestations (arachnodactyly, dolichostenomelia, pectus deformities) are also associated." "" + "disorder of vitamin and non-protein cofactor absorption and transport" "" + "short stature-webbed neck-heart disease syndrome" "Short stature-webbed neck-heart disease syndrome is characterized by short stature, intellectual deficit, facial dysmorphism, short webbed neck, skin changes and congenital heart defects. It has been reported in four Arab Bedouin sibs born to consanguineous parents." "" + "short stature-deafness-neutrophil dysfunction-dysmorphism syndrome" "Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome is characterised by short stature, sensorineural deafness, mutism, facial dysmorphism and abnormal neutrophil chemotaxis (leading to recurrent infections)." "" + "phakomatosis pigmentokeratotica" "Phakomatosis pigmentokeratotica (PPK) is a very rare epidermal nevus disorder characterized by the association of speckled lentiginous nevi with epidermal sebaceous nevi, and extracutaneous anomalies." "" + "phakomatosis pigmentovascularis" "" + "pili torti-onychodysplasia syndrome" "Pili torti-onychodysplasia is a form of ectodermal dysplasia characterised by dystrophy of the distal part of the nails and trichodysplasia. It has been described in only one family. Transmission is autosomal recessive." "" + "disorders of vitamin D metabolism" "" + "early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation" "Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation is a rare intellectual disability and epilepsy syndrome characterized by global developmental delay and mild to profound intellectual disability, multiple types of usually intractable focal and generalized seizures with variable abnormal EEG findings, and bilateral progressive parenchymal volume loss and thin corpus callosum on brain MRI." "" + "infective dermatitis associated with HTLV-1" "A rare and severe chronic disease characterized by recurrent chronic eczema (with erythematous, scaly and crusted lesions) mainly affecting seborrheic areas (e.g. scalp, forehead, eyelids, paranasal and periauricular skin, neck, axillae, and groin), a generalized fine papular rash, chronic nasal discharge with crusting of the anterior nares, and non-virulent Staphylococcus aureus or beta-hemolytic Streptococcus infections, thought to be a result of HTLV-1-induced immunosuppression. Lymphadenopathy, anemia, mild to moderate pruritus and increased incidence of other infections (e.g. crusted scabies) have also been reported in some patients. Patients may subsequently develop other HTLV-1 associated conditions such as adult T-cell leukemia/lymphoma and tropical spastic paraparesis." "" + "primary non-gestational choriocarcinoma of ovary" "Primary non-gestational choriocarcinoma of ovary is a rare ovarian germ cell malignant tumor, arising from primordial germ cells, usually presenting with nausea, vomiting, abdominal pain, menstrual irregularities, and characterized by fast growth pattern, metastasis to lung, liver and brain and production of human chorionic gonadotrophin (hCG). It is apparently chemoresistant and has a worse prognosis than gestational choriocarcinoma and hence should be distinguished from the latter by DNA polymorphism." "" + "non-central nervous system-localized embryonal carcinoma" "" + "malignancy diagnosed during pregnancy" "" + "Pilotto syndrome" "Pilotto syndrome is a rare genetic multiple developmental anomalies syndrome, that is characterized by craniofacial anomalies (microcephaly, brachycephaly, craniosynostosis, facial asymmetry, cleft lip, cleft palate, dysmorphic facial features, ear lobe malformations, low hair line), congenital heart defects, hypogenitalism and/or hypogonadism, intellectual disability, scoliosis or kyphoscoliosis, short hypoplastic ribs, failure to thrive, growth delay, short stature and/or micromelia. There have been no further descriptions in the literature since 1975." "" + "pyoderma gangrenosum-acne-suppurative hidradenitis syndrome" "" + "12q15q21.1 microdeletion syndrome" "12q15q21.1 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 12, with a highly variable phenotype, typically characterized by developmental delay, learning disability, intra-uterine and postnatal growth retardation, and mild facial dysmorphism that changes with age. Nasal speech and hypothyroidism are also associated." "" + "microtriplication 11q24.1" "Microtriplication 11q24.1 is an extremely rare partial autosomal tetrasomy, resulting from a partial triplication of the long arm of chromosome 11, characterized by intellectual disability (with severe verbal impairment), short stature with small extremities, keratoconus and distinctive facial features (round, course face, upward slanting palpebral fissures, mild synophris, large nose with thick ala nasi and triangular tip, large mouth with broad lips, short and smooth philtrum, large protruded chin, ears with adherent lobules). Additionally, patients are overweight and present hypercholesterolemia." "" + "fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex I deficiency" "" + "inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency" "Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency is a rare, genetic, chronic, primary adrenal insufficiency disorder, due to partial loss-of-function CYP11A1 mutations, characterized by early-onset adrenal insufficiency without associated abnormal external male genitalia. Patients present with signs of adrenal crisis, including electrolite abnormalities, severe weakness, recurrent vomiting and seizures. Ultrasound reveals absent (or very small) adrenal glands." "" + "juvenile nasopharyngeal angiofibroma" "Juvenile nasopharyngeal angiofibroma (JNA) is a rare and benign but locally aggressive fibrovascular tumor arising from the posterolateral wall of the nasopharynx, which affects mainly young and adolescent males (onset usually occurring between 7-19 years of age) and that presents as a mass in the nasopharynx and nasal cavity, leading to manifestations such as nasal obstruction, epistaxis, profound facial swelling, proptosis or diplopia. Although slowly progressive, it has a high rate of recurrence and sometimes invades adjacent structures." "" + "Epstein-Barr virus-related tumor" "" + "Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly" "Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly is a rare form of diffuse large B-cell lymphoma occurring most commonly in patients over the age of 50 (usually between 70-75 years of age), without overt immunodeficiency, and presenting with nodal and extranodal involvement (in sites such as the stomach, lung, skin and pancreas) and B symptoms (fever, night sweats, weight loss). The tumor is characterized by an aggressive course and a short survival rate." "" + "plasmablastic lymphoma" "An aggressive diffuse large B-cell lymphoma frequently arising in the setting of HIV infection and characterized by the presence of large neoplastic cells resembling B-immunoblasts which have the immunophenotypic profile of plasma cells. Sites of involvement include the oral cavity, sinonasal cavity, skin, soft tissues, gastrointestinal tract, and bone." "" + "lymphoepithelial-like carcinoma" "Lymphoepithelial-like carcinoma is a rare, malignant epithelial tumor, composed of undifferentiated epithelial cells with dense lymphoid stroma, mimicking lymphoepithelioma. It often shows association with Epstein-Barr virus infection and can develop in various organs, such as the nasopharynx, stomach, skin, breast and lungs, among others. The presenting symptoms, as well as the radiologic features, are usually nonspecific and depend on the affected site and organ." "" + "myopericytoma" "A usually slow growing, subcutaneous nodular neoplasm arising from myopericytes. It is composed of myoid cells arranged in a perivascular growth pattern. The vast majority of cases have a benign clinical course." "" + "neonatal glycine encephalopathy" "Neonatal glycine encephalopathy is a frequent, usually severe form of glycine encephalopathy (GE) characterized by coma, apnea, hypotonia, seizure and myoclonic jerks in the neonatal period, and subsequent developmental delay." "" + "infantile glycine encephalopathy" "Infantile glycine encephalopathy is a mild to severe form of glycine encephalopathy (GE), characterized by early hypotonia, developmental delay and seizures." "" + "inborn disorder of proline metabolism" "An acquired metabolic disease that is has its basis in the disruption of proline metabolic process." "" + "inborn disorder of ornithine or proline metabolism" "" + "transient hyperammonemia of the newborn" "" + "obsolete organic aciduria" "" "true" + "vitamin B12-unresponsive methylmalonic acidemia type mut0" "Vitamin B12-unresponsive methylmalonic acidemia type mut0 is an inborn error of metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12." "" + "congenital rubella syndrome" "An infectious embryofetopathy that may present in an infant as a result of maternal infection and subsequent fetal infection with rubella virus. CRS can lead to deafness, cataract, and variety of other permanent manifestations including cardiac and neurological defects." "" + "idiopathic chronic eosinophilic pneumonia" "Idiopathic chronic eosinophilic pneumonia (ICEP) is a very rare, severe, interstitial lung disease of insidious onset with subacute or chronic non-specific respiratory manifestations (dyspnea, cough, wheezing) often associated with systemic manifestations (fatigue, malaise, weight loss)." "" + "POEMS syndrome" "POEMS syndrome is a paraneoplastic syndrome characterized by polyradiculoneuropathy (P), organomegaly (O), endocrinopathy (E), clonal plasma cell disorder (M), and skin changes (S). Other features include papilledema, extravascular volume overload, sclerotic bone lesions, thrombocytosis/erythrocytosis, and elevated VEGF levels." "" + "hereditary acrokeratotic poikiloderma, Weary type" "" + "obsolete kindler syndrome" "" "true" + "obsolete rare skin disease" "Rare skin disease." "True" "true" + "obsolete rare head and neck tumor" "Rare head and neck neoplasia." "True" "true" + "congenital varicella syndrome" "Fetal varicella syndrome (CVS) is an acquired developmental anomaly syndrome characterized by skin, neurological, ocular, limbs and growth defects secondary to maternal Varicella-Zoster Virus (VZV) infection." "" + "poliovirus infection" "An disease or disorder caused by infection with Enterovirus C." "" + "obsolete polydactyly" "" "true" + "congenital enterovirus infection" "Congenital viral infections with enteroviruses (EV) including coxsackie viruses and ECHO viruses is an infectious embryofetopathy that have been reported to cause spontaneous abortion, stillbirth, fetal malformations and acute systemic illness in the newborn." "" + "reactive arthritis" "Reactive arthritis (ReA) is an autoimmune disorder belonging to the group of seronegative spondyloarthropathies and is characterized by the classic triad of arthritis, urethritis and conjunctivitis." "" + "preaxial polydactyly-colobomata-intellectual disability syndrome" "Preaxial polydactyly-colobomata-intellectual disability syndrome is characterised by growth retardation, intellectual deficit, preaxial polydactyly and colobomatous anomalies. It has been described in one pair of sibs (brother and sister). The mode of transmission is thought to be autosomal recessive." "" + "obsolete polymicrogyria-turricephaly-hypogenitalism syndrome" "" "true" + "polyneuropathy-intellectual disability-acromicria-premature menopause syndrome" "Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome is a rare genetic syndromic intellectual disability characterized by intellectual disability, polyneuropathy, short stature and short limbs, brachydactyly, and premature ovarian insufficiency. Only one familial case with three affected females was described and there have been no further descriptions in the literature since 1971." "" + "congenital herpes simplex virus infection" "Congenital herpes virus infection is a group of anomalies that an infant may present as a result of maternal infection and subsequent foetal infection with herpes virus. This virus causes recurrent cutaneous infections in adults, often involving the lips or the genitalia. Herpes infections in other organs, such as the liver or central nervous system, are less frequent." "" + "congenital herpes virus infection" "An infectious embryofetopathy caused by infection with Herpesviridae." "" + "familial clubfoot due to 5q31 microdeletion" "" + "familial clubfoot due to PITX1 point mutation" "" + "acute generalized exanthematous pustulosis" "A widespread acute rash characterized by fever and multiple small pustules on a reddish background." "" + "celiac trunk compression syndrome" "" + "tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria" "Tetrahydrobiopterin-responsive hyperphenylalaninemia/ phenylketonuria (BH4-responsive hyperphenylalaninemia/ phenylketonuria) is a form of phenylketonuria (PKU), an inborn error of amino acid metabolism, characterized by mild to moderate symptoms of PKU including impaired cognitive function, seizures, and behavioral and developmental disorders, and a marked reduction and normalization of elevated phenylalanine concentrations after oral loading with tetrahydrobiopterin (BH4; sapropterin dihydrochloride), an essential cofactor of phenylalanine hydroxylase." "" + "Grayson-Wilbrandt corneal dystrophy" "Grayson-Wilbrandt corneal dystrophy (GWCD) is an extremely rare form of corneal dystrophy characterized by variable patterns of opacification in the Bowman layer of the cornea which extend anteriorly into the epithelium with decreased to normal visual acuity." "" + "pre-descemet corneal dystrophy" "Pre-Descemet corneal dystrophy (PDCD) is a rare form of stromal corneal dystrophy characterized by focal, fine, gray opacities in the deep stroma immediately anterior to the Descemet membrane, with no effect on vision." "" + "ketamine-induced biliary dilatation" "Ketamine-induced biliary dilatation is an acquired biliary tract disease caused by the abusive consumption of ketamine, which results in the fusiform dilatation of the common bile ducts (CBD) without obstructive lesions or dilatation of the intrahepatic biliary ducts. Possible manifestations of the underlying cholangiopathy include epigastric pain and impaired liver function. Severity of CBD dilatation appears to correlate with the duration of ketamine consumption and the condition has been reported to be reversible in abstinent patients." "" + "fixed pigmented erythema" "" + "frontotemporal dementia, right temporal atrophy variant" "Right temporal lobar atrophy (RTLA) is an anatomic variant of frontotemporal dementia (FTD), characterized by behavioral dysfunction, personality changes, episodic memory loss, and prosopagnosia; attributable to an asymmetrical predominantly right-sided, frontotemporal atrophy." "" + "hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome" "Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome is a rare, potentially fatal, genetic, visceral malformation syndrome characterized by neonatal diabetes, hypoplastic or annular pancreas, duodenal and jejunal atresia, as well as gallbladder aplasia or hypoplasia. Patients typically present intrauterine growth restriction, failure to thrive, malnutrition, intestinal malrotation, malabsorption, conjugated hyperbilirubinemia, acholia and infections. Cardiac anomalies may also be associated." "" + "distal Xq28 microduplication syndrome" "Distal Xq28 microduplication syndrome is a rare, hereditary, syndromic intellectual disability characterized by cognitive impairment, behavioral and psychiatric problems, recurrent infections, atopic diseases, and distinctive facial features in males. Females are clinically asymptomatic or mildly affected, presenting mild learning difficulties and facial dysmorphism." "" + "1p21.3 microdeletion syndrome" "1p21.3 microdeletion syndrome is an extremely rare chromosomal anomaly characterized by severe speech and language delay, intellectual deficiency, autism spectrum disorder." "" + "hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome" "" + "deficiency in anterior pituitary function - variable immunodeficiency syndrome" "" + "rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome" "A very rare disorder that appears after the first year and a half of life in previously healthy children. It is characterized by rapid-onset weight gain, hypothalamic dysfunction, breathing abnormalities, and autonomic system dysregulation. The hypothalamic dysfunction manifestations include inability to maintain normal water balance, high prolactin levels, low thyroid, low cortisol, and early or late puberty. The breathing abnormalities include sleep apnea and alveolar hypoventilation, requiring ventilation support. The autonomic system dysregulation includes eye abnormalities, intestinal abnormalities, temperature dysregulation, and low heart rhythm. This disorder requires early recognition because it may lead to cardiorespiratory arrest. Up to 40% of the patients develop tumors of neural crest origin." "" + "fetal cytomegalovirus syndrome" "An infection with the Cytomegalovirus that is present from birth." "" + "porencephaly" "Porencephaly is characterized by a circumscribed intracerebral cavity of variable size that may be bordered by abnormal polymicrogyric grey matter. In extreme cases, this cavity may result in a communication between the pial surface and the ventricle; this is termed schizencephaly." "" + "2q31.1 microduplication syndrome" "" + "Reunion island Larsen syndrome" "" + "obsolete rare nevus" "Rare nevus." "True" "true" + "postpoliomyelitis syndrome" "Postpoliomyelitis syndrome (PPS) is a neurologic disorder characterized by the development of new neuromuscular symptoms such as progressive muscular weakness or abnormal muscle fatigability occurring in survivors of the acute paralytic form of poliomyelitis, 15-40 years after recovery from the disease, and that is unexplained by other medical causes. Other manifestations that can occur gradually include generalized fatigue, muscle atrophy, muscle and joint pain, intolerance to cold, and difficulties sleeping, swallowing or breathing." "" + "chronic intestinal failure" "Chronic intestinal failure (CIF) is a chronic type of intestinal failure characterized by a nonfunctioning small bowel (that may be reversible or irreversal) where the body is unable to maintain energy and nutritional needs through absorption of food or nutrients via the intestinal tract (despite being metabolically stable) and which therefore necessitates long-term parenteral feeding. CIF may be the result of congenital digestive diseases (such as gastroschisis, atresia of small intestine), short bowel syndrome, intra-abdominal or pelvic cancer, or progressive and devastating gastrointestinal or systemic benign diseases (such as Crohn disease)." "" + "non-syndromic amelia" "A congenital malformation characterized by the complete absence of all limbs." "" + "intercalary limb defects" "" + "adactyly of hand" "" + "brachydactyly" "A disease characterized by the presence of brachydactyly, including syndromic and non-syndromic forms." "" + "postaxial polydactyly of fingers" "" + "non-syndromic congenital joint dislocations" "" + "non-syndromic limb overgrowth" "" + "obsolete dysostosis with combined reduction defects of upper and lower limbs" "" "true" + "amelia of upper limb" "A non-syndromic amelia that involves the forelimb." "" + "amelia of lower limb" "A non-syndromic amelia that involves the hindlimb." "" + "tetra-amelia" "" + "humeral agenesis/hypoplasia" "Humeral agenesis/hypoplasia is a rare, non-syndromic limb reduction defect characterized by the unilateral or bilateral presence of a short arm with completely absent or underdeveloped humerus, frequently associated with ulnar and/or radial malformations. Patients may present with the appearance of the forearm directly attached to the shoulder, no articulation at the shoulder joint, impossible passive extension of the arm beyond the mid-axillary line, no elbow joints, bowing of the radius, a short ulna and/or ulnar/radial deviation of the hand at the wrist." "" + "congenital absence of upper arm and forearm with hand present" "A congenital malformation in which the upper portion of a limb is either shortened or absent." "" + "congenital absence of thigh and lower leg with foot present" "" + "congenital absence of both forearm and hand" "Congenital absence of both forearm and hand is a rare developmental defect during embryogenesis characterized by unilateral or bilateral arrest of proximal to distal development of the upper limb, leading to a transverse deficiency with absence of the forearm, wrist and hand. A short below-the-elbow amputation is most commonly observed and the residual limb is usually well cushioned, with rudimentary nubbins or dumpling possibly found on the end." "" + "congenital absence of both lower leg and foot" "" + "acheiria" "" + "apodia" "" + "congenital absence/hypoplasia of thumb" "Congenital absence/hypoplasia of thumb is a rare developmental defect during embryogenesis characterized by underdevelopment of the thumb, ranging from a slight decrease in thumb size to complete absence of the thumb. The malformation may occur isolated, combined to other defects of the hand or upper limb, or as part of a multiple congenital anomaly syndrome." "" + "split hand" "Split hand is a rare, non-syndromic limb reduction defect, clinically and genetically heterogeneous, characterized by bilateral or unilateral underdevelopment or absence of the central rays of the autopod, with absence of all or just some of the central phalanges and at least part of the associated metacarpal bones, yielding a cleft appearance of the hand. It is frequently associated with syndactyly and aplasia/hypoplasia of remaining digits and metacarpal bones. No other dysmorphic features are observed and development is appropriate for age." "" + "split foot" "" + "non-syndromic brachydactyly of fingers" "A non-syndromic brachydactyly that involves the manus." "" + "non-syndromic brachydactyly of toes" "A non-syndromic brachydactyly that involves the pes." "" + "fetal parvovirus syndrome" "Foetal parvovirus syndrome is a foetopathy likely to occur when a pregnant woman is infected by parvovirus B19. In adults, the virus causes a butterfly erythema infectiosum (also called Fifth Disease; 'slapped cheek disease') and flu-like symptoms with symmetric polyarthralgias, which usually do not warrant prenatal diagnosis." "" + "triphalangeal thumb-polysyndactyly syndrome" "Triphalangeal thumb-polysyndactyly syndrome (TPT-PS) is a hand-foot malformation characterized by triphalangeal thumbs and pre- and postaxial polydactyly, isolated syndactyly or complex polysyndactyly." "" + "hyperphalangy" "Hyperphalangy is a congenital, non-syndromic limb malformation characterized by the presence of an accessory phalanx between metacarpal/metatarsal and proximal phalanx, or between any two other phalanges of a digit, excluding the thumb. Hypherphalangy is almost always bilateral and patients present no more than five digits and no other skeletal anomalies." "" + "central polydactyly of fingers" "" + "Preaxial polydactyly of toes" "" + "obsolete postaxial polydactyly of toes" "" "true" + "obsolete central polydactyly of toes" "" "true" + "syndactyly type 6" "Syndactyly type 6 is a rare, genetic, non-syndromic, congenital limb malformation characterized by unilateral fusion of second to fifth fingers, amalgamation of distal phalanges in a knot-like structure, and second- and third-toe fusion. Some individuals present only with webbing between second and third toes, without involvement of fingers." "" + "familial isolated clinodactyly of fingers" "Familial isolated clinodactyly of fingers is a rare, genetic, non-syndromic, congenital limb malformation characterized by angulation of a digit in the radio-ulnar (coronal) plane, away from the axis of joint flexion-extension, in several members of a single family with no other associated manifestations. Deviation is usually bilateral and commonly involves the fifth finger. Affected digits present trapezoidal or delta-shaped phalanges on imaging." "" + "congenital pseudoarthrosis of the tibia" "A condition characterized by non-union of the tibia, which is present at birth. It is usually associated with neurofibromatosis type 1." "" + "congenital pseudoarthrosis of the femur" "" + "congenital pseudoarthrosis of the fibula" "" + "congenital pseudoarthrosis of the radius" "" + "congenital pseudoarthrosis of the ulna" "" + "tibio-fibular synostosis" "Tibio-fibular synostosis is a rare, non-syndromic limb malformation characterized by fusion of the proximal or distal tibial and fibular metaphysis and/or diaphysis, frequently associated with distal positioning of the proximal tibiofibular joint, leg length discrepancy, bowing of the fibula, and valgus deformity of the knee." "" + "congenital shoulder dislocation" "" + "congenital elbow dislocation" "" + "congenital knee dislocation" "" + "congenital patella dislocation" "" + "patella aplasia/hypoplasia, unilateral" "" + "patella aplasia/hypoplasia, bilateral" "" + "macrodactyly of fingers" "" + "macrodactyly of toes" "" + "upper limb hypertrophy" "" + "lower limb hypertrophy" "Lower limb hypertrophy is a rare, genetic, non-syndromic developmental defect during embryogenesis characterized by uni- or bilateral overgrowth of lower limbs involving bones and/or soft tissues and resulting in an abnormal increase in leg length and/or width. Hypertrophy presents either as a proportionate overgrowth of entire limb or involves only the proximal or distal parts of it. Phenotype ranges from mild hypertrophy without functional disability to massively hypertrophied limb with knee flexion and ankle equinus contractures and macrodystrophia lipomatosa. Patients may also present vascular abnormalities (e.g. cutaneous angiomas, varicose veins) and myalgia." "" + "amelia of upper limb, unilateral" "" + "amelia of upper limb, bilateral" "" + "amelia of lower limb, unilateral" "" + "amelia of lower limb, bilateral" "" + "humeral agenesis/hypoplasia, unilateral" "" + "humeral agenesis/hypoplasia, bilateral" "" + "femoral agenesis/hypoplasia, unilateral" "" + "femoral agenesis/hypoplasia, bilateral" "" + "radial hemimelia, unilateral" "" + "radial hemimelia" "Radial hemimelia is a congenital longitudinal deficiency of the radius bone of the forearm characterized by partial or total absence of the radius." "" + "radial hemimelia, bilateral" "" + "ulnar hemimelia, bilateral" "" + "ulnar hemimelia" "Ulnar hemimelia is a congenital ulnar deficiency of the forearm characterized by complete or partial absence of the ulna bone." "" + "ulnar hemimelia, unilateral" "" + "tibial hemimelia, unilateral" "" + "tibial hemimelia, bilateral" "" + "fibular hemimelia, unilateral" "" + "fibular hemimelia" "Fibular hemimelia is a congenital longitudinal limb deficiency characterized by complete or partial absence of the fibula bone." "" + "fibular hemimelia, bilateral" "" + "obsolete congenital absence of upper arm and forearm with hand present, unilateral" "" "true" + "obsolete congenital absence of upper arm and forearm with hand present, bilateral" "" "true" + "congenital absence of thigh and lower leg with foot present, unilateral" "" + "congenital absence of thigh and lower leg with foot present, bilateral" "" + "congenital absence of both forearm and hand, unilateral" "Congenital absence of both forearm and hand, unilateral is a rare developmental defect during embryogenesis characterized by a unilateral, transverse absence of the radius and ulna (of varying terminal lengths), as well as all the elements composing the hand. Left or right side may be involved." "" + "congenital absence of both forearm and hand, bilateral" "Congenital absence of both forearm and hand, bilateral is a rare developmental defect during embryogenesis characterized by a bilateral, transverse absence of the radius and ulna (of varying terminal lengths), as well as all the elements composing the hand." "" + "congenital absence of both lower leg and foot, unilateral" "" + "congenital absence of both lower leg and foot, bilateral" "" + "acheiria, unilateral" "" + "acheiria, bilateral" "" + "apodia, unilateral" "" + "apodia, bilateral" "" + "congenital absence/hypoplasia of thumb, unilateral" "Congenital absence/hypoplasia of thumb, unilateral is a rare developmental defect during embryogenesis characterized by the unilateral underdevelopment of the thumb, ranging from a slight decrease in thumb size to complete absence of the thumb." "" + "congenital absence/hypoplasia of thumb, bilateral" "Congenital absence/hypoplasia of thumb, bilateral is a rare developmental defect during embryogenesis characterized by bilateral underdevelopment of the thumbs, ranging from a slight decrease in thumb size to complete absence of the thumbs. This anomaly counts for 20-60% of thumb hypoplasias." "" + "congenital absence/hypoplasia of fingers excluding thumb, bilateral" "" + "adactyly of foot, unilateral" "" + "adactyly of foot" "" + "adactyly of foot, bilateral" "" + "split hand, unilateral" "Split hand, unilateral is a rare, non-syndromic limb reduction defect, clinically and genetically heterogeneous, characterized by unilateral underdevelopment or absence of the central rays of the autopod, with absence of all, or just some, of the central phalanges and at least part of the associated metacarpal bones, yielding a cleft appearance of the hand. It is frequently associated with syndactyly and aplasia/hypoplasia of remaining digits and metacarpal bones. No other dysmorphic features are observed and development is appropriate for age." "" + "split hand, bilateral" "Split hand, bilateral is a rare, non-syndromic limb reduction defect, clinically and genetically heterogeneous, characterized by bilateral underdevelopment or absence of the central rays of the autopod, with absence of all, or just some, of the central phalanges and at least part of the associated metacarpal bones, yielding a cleft appearance of the hand. It is frequently associated with syndactyly and aplasia/hypoplasia of remaining digits and metacarpal bones. No other dysmorphic features are observed and development is appropriate for age." "" + "split foot, unilateral" "" + "split foot, bilateral" "" + "brachydactyly of fingers, unilateral" "" + "brachydactyly of fingers, bilateral" "" + "brachydactyly of toes, unilateral" "" + "brachydactyly of toes, bilateral" "" + "symbrachydactyly of hand and foot, unilateral" "" + "symbrachydactyly of hand and foot, bilateral" "" + "hyperphalangy, unilateral" "" + "hyperphalangy, bilateral" "" + "polydactyly of a biphalangeal thumb, unilateral" "" + "polydactyly of a biphalangeal thumb, bilateral" "" + "polydactyly of a triphalangeal thumb, unilateral" "" + "polydactyly of a triphalangeal thumb, bilateral" "" + "polydactyly of an index finger, unilateral" "" + "polydactyly of an index finger, bilateral" "" + "polysyndactyly, unilateral" "" + "polysyndactyly, bilateral" "" + "postaxial polydactyly type A, unilateral" "" + "postaxial polydactyly type A, bilateral" "" + "postaxial polydactyly type B, unilateral" "" + "postaxial polydactyly type B" "" + "postaxial polydactyly type B, bilateral" "" + "central polydactyly of fingers, unilateral" "" + "central polydactyly of fingers, bilateral" "" + "Preaxial polydactyly of toes, unilateral" "" + "Preaxial polydactyly of toes, bilateral" "" + "obsolete postaxial polydactyly of toes, unilateral" "" "true" + "obsolete postaxial polydactyly of toes, bilateral" "" "true" + "obsolete central polydactyly of toes, unilateral" "" "true" + "obsolete central polydactyly of toes, bilateral" "" "true" + "zygodactyly type 2" "" + "zygodactyly type 3" "" + "zygodactyly type 4" "" + "congenital vertical talus, unilateral" "" + "congenital vertical talus, bilateral" "" + "humero-radio-ulnar synostosis, unilateral" "" + "humero-radio-ulnar synostosis" "Humero-radio-ulnar synostosis is an extremely rare, genetic, congenital joint formation defect disorder characterized by uni- or bilateral fusion of the humerus, radius and ulnar bones, leading to loss of elbow motion and, in most, functional arm incapacity. It may appear as distal humeral bifurcation with absent elbow joint and shortened arm length on imaging. Hand abnormalities, namely oligoectrosyndactyly, may be associated." "" + "humero-radio-ulnar synostosis, bilateral" "" + "humero-radial synostosis, unilateral" "" + "humero-radial synostosis, bilateral" "" + "humero-ulnar synostosis, unilateral" "" + "humero-ulnar synostosis" "" + "humero-ulnar synostosis, bilateral" "" + "radio-ulnar synostosis, unilateral" "" + "radio-ulnar synostosis, bilateral" "" + "Madelung deformity, unilateral" "" + "Madelung deformity" "Madelung disease, or deformity (MD) is a predominantly bilateral wrist anomaly characterized by shortened and bowed radii and long ulnae leading to dorsal dislocation of the distal ulna and limited mobility of the wrist and elbow." "" + "Madelung deformity, bilateral" "" + "congenital elbow dislocation, unilateral" "" + "congenital elbow dislocation, bilateral" "" + "congenital genu recurvatum" "An abnormal alignment of the knee backwards that is due to a deformity in the knee joint." "" + "congenital genu flexum" "" + "congenital patella dislocation, unilateral" "" + "congenital patella dislocation, bilateral" "" + "macrodactyly of fingers, unilateral" "" + "macrodactyly of fingers, bilateral" "" + "macrodactyly of toes, unilateral" "" + "macrodactyly of toes, bilateral" "" + "Prata-Liberal-Goncalves syndrome" "Acrodysplasia scoliosis is a rare, genetic dysostosis disorder characterized by brachydactyly and other finger/toe anomalies (short and/or wide metacarpals, abnormal or absent metatarsals, broad halluces), carpal synostosis, fused cervical vertebrae, scoliosis and spina bifida occulta. There have been no further descriptions in the literature since 1984." "" + "Proteus-like syndrome" "Proteus-like syndrome describes patients who do not meet the diagnostic criteria for Proteus syndrome but who share a multitude of characteristic clinical features of the disease." "" + "tick-borne encephalitis" "Tick-borne encephalitis is caused by an arbovirus of the Flaviviridae family (tick-borne encephalitis virus, TBEV), transmitted principally by the bite of the Ixodes ricinus tick. The symptomology is biphasic, with the initial phase being associated with a flu-like illness and the second phase (occurring in less than 10% of patients) with symptoms of meningitis or, more rarely, meningoencephalitis." "" + "46,XX disorder of sex development-anorectal anomalies syndrome" "46,XX disorder of sex development-anorectal anomalies syndrome is a rare developmental defect during embryogenesis syndrome characterized by a normal female karyotype, normal ovaries, male or ambiguous genitalia, urinary tract malformations (ranging from bilateral renal agenesis to mild unilateral hydronephrosis), müllerian duct anomalies (e.g. complete absence of the uterus and vagina, bicornuate uterus), and imperforate anus. Additional features may include tracheoesophageal fistula, radial aplasia, and malrotation of the gut." "" + "mitochondrial neurogastrointestinal encephalomyopathy" "Mitochondrial NeuroGastroIntestinal Encephalomyopathy (MNGIE) syndrome is characterized by the association of gastrointestinal dysmotility, peripheral neuropathy, chronic progressive external ophthalmoplegia and leukoencephalopathy." "" + "46,XX disorder of sex development" "Conditions affecting individuals with 46,XX karyotype characterized by atypical development of one or more of the following: the gonads, the internal reproductive structures, the external reproductive/genital structures." "" + "spontaneous periodic hypothermia" "Spontaneous periodic hypothermia (SPH) is a neurological disorder characterized by spontaneous periodic hypothermia and hyperhidrosis in the absence of hypothalamic lesions." "" + "11p15.4 microduplication syndrome" "11p15.4 microduplication syndrome is a rare partial autosomal trisomy/tetrasomy characterized by obesity, global developmental delay and intellectual disability, facial dysmorphism (synophrys, high-arched eyebrows, large posteriorly rotated ears, upturned nose, long smooth philtrum, overbite and high palate), large hands and limb hypotonia. Additional features include seizures and behavioral abnormalities." "" + "mirror polydactyly-vertebral segmentation-limbs defects syndrome" "Mirror polydactyly-vertebral segmentation-limbs defects syndrome is characterised by mirror polydactyly, vertebral hypersegmentation and severe congenital limb deficiencies. Duodenal atresia and absent thymus were also reported. So far, it has been described in four unrelated infants identified through a congenital malformation screening program carried out in Spain. The prevalence was estimated at around 1 in 330,000. The etiology is unknown but it was suggested that the syndrome is caused by defective expression of a developmental control gene." "" + "Sagliker syndrome" "A rare bone disease that arises due to secondary hyperparathyroidism in patients with chronic renal failure receiving dialysis characterized by 'uglifying' the appearance of the face" "" + "painful orbital and systemic neurofibromas-marfanoid habitus syndrome" "" + "onychocytic matricoma" "Onychocytic matricoma is a rare tumor of the nail that is generally benign. Affected people often experience thickening of the involved portion of the nail. The tumor may be pigmented (melanonychia - a black or brown pigmentation of the normal nail plate) or non-pigmented. The exact underlying cause of onychocytic matricoma is currently unknown. It generally occurs sporadically in people with no family history of the condition. Treatment generally consists of surgical excision." "" + "onychomatricoma" "A neoplasm involving a UBERON:0002283." "" + "follicular cholangitis and pancreatitis" "Follicular cholangitis and pancreatitis is a rare pancreatobiliary disease characterized by marked duct-centered lymphoid follicular inflammation that develops in both biliary and pancreatic ductal systems, mainly affecting the hilar bile ducts and the pancreatic head. Patients present with jaundice, abdominal pain, liver dysfunction, pruritus and/or weight loss. Histology shows lymphoplasmacytic infiltration with formation of numerous, large lymphpoid follicles around the affected bile and pancreatic ducts." "" + "combined pulmonary fibrosis-emphysema syndrome" "" + "staphylococcal toxemia" "" + "diffuse large B-cell lymphoma of the central nervous system" "A diffuse large B-cell lymphoma arising from the central nervous system." "" + "T-cell/histiocyte rich large B cell lymphoma" "T-cell/histiocyte rich large B cell lymphoma (THRLBCL) is a rare variant of diffuse large B-cell lymphoma (DLBCL), mainly affecting middle-aged men and often not being discovered until an advanced disease stage, with involvement of the spleen, liver and bone marrow occurring at a greater frequency than in DLBCL. It is often difficult to diagnose due to its similarity with other lymphoid diseases such as classic Hodgkin lymphoma and nodular lymphocyte-predominant Hodgkin lymphoma and has an aggressive clinical course." "" + "primary cutaneous anaplastic large cell lymphoma" "Primary cutaneous anaplastic large cell lymphoma (C-ALCL) is a rare T-cell non-Hodgkin lymphoma that affects the skin and generally shows no extracutaneous involvement at presentation. It belongs to the spectrum of primary cutaneous CD30+ lymphoproliferative disorders along with lymphomatoid papulosis with which it shares overlapping clinical and histopathologic features." "" + "primary cutaneous CD30+ T-cell lymphoproliferative disease" "" + "splenic diffuse red pulp small B-cell lymphoma" "Splenic diffuse red pulp small B-cell lymphoma is a rare, indolent B-cell non-Hodgkin lymphoma characterized by abnormal proliferation of small, monomorphous, basophilic B-lymphocytes, with villous cytoplasm, in the splenic red pulp, bone marrow and peripheral blood. It typically presents in the late clinical stages with splenomegaly and moderate lymphocytosis. Cytopenias are rare and likely associated with hypersplenism." "" + "hairy cell leukemia variant" "Hairy Cell Leukemia variant (HCL-V) is defined as a rare and indolent form of small, mature, B-cell leukemia characterized by splenomegaly, an elevated white blood cell (WBC) count and hyper-cellular bone marrow. HCL-V is more aggressive and resistant to therapy than classical HCL (HCL-C)." "" + "diffuse large B-cell lymphoma with chronic inflammation" "Diffuse large B-cell lymphoma with chronic inflammation is an Epstein-Barr virus-associated malignant lymphoproliferative disorder, developing in a context of long-standing or slow-growing, chronically inflamed lesions, such as chronic pyothorax, metallic implants in bones and joints, chronic osteomyelitis, chronic venous ulcer, or, rarely granulomatous inflammation. The tumor is usually primarily localized, with no involvement of other organs." "" + "ALK-positive anaplastic large cell lymphoma" "ALK-positive anaplastic large cell lymphoma (ALK+ ALCL) is a type of ALCL, a rare and aggressive peripheral T-cell non-Hodgkin lymphoma affecting lymph nodes and extranodal sites, which is characterized by the expression of a protein called anaplastic lymphoma kinase (ALK)." "" + "ALK-negative anaplastic large cell lymphoma" "ALK-negative anaplastic large cell lymphoma (ALK- ALCL) is a type of ALCL, a rare and aggressive peripheral T-cell non-Hodgkin lymphoma affecting lymph nodes and extranodal sites, which is characterized by the lack of expression of a protein called anaplastic lymphoma kinase (ALK)." "" + "obsolete ependymal tumor" "" "true" + "facial nerve palsy due to herpes zoster infection" "" + "caudal regression sequence" "Caudal regression sequence is a rare congenital malformation of the lower spinal segments associated with aplasia or hypoplasia of the sacrum and lumbar spine." "" + "obsolete dystrophic epidermolysis bullosa" "" "true" + "intellectual disability-hypotonia-skin hyperpigmentation syndrome" "" + "X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome" "X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome is a rare X-linked intellectual disability syndrome characterized by intellectual disability associated with short stature, obesity, primary hypogonadism and an ichthyosiform skin condition. There have been no further descriptions in the literature since 1982." "" + "X-linked intellectual disability, Schutz type" "" + "acquired adult-onset immunodeficiency" "A acquired immunodeficiency that occurs in an adult." "" + "congenital sucrase-isomaltase deficiency with starch intolerance" "" + "congenital sucrase-isomaltase deficiency with minimal starch tolerance" "" + "congenital sucrase-isomaltase deficiency without starch intolerance" "" + "congenital sucrase-isomaltase deficiency with starch and lactose intolerance" "" + "congenital sucrase-isomaltase deficiency without sucrose intolerance" "" + "myospherulosis" "" + "X-linked complicated spastic paraplegia type 1" "An X-linked form of L1 syndrome characterized by spastic paraplegia, mild to moderate intellectual disability, normal MRI of the brain." "" + "obsolete rare tumor of gallbladder and extrahepatic biliary tract" "True" "true" + "obsolete rare tumor of liver and intrahepatic biliary tract" "Any of the forms of liver and intrahepatic bile duct neoplasm that have a rare incidence." "True" "true" + "obsolete rare intoxication due to medical products" "True" "true" + "hemiparkinsonism-hemiatrophy syndrome" "Hemiparkinsonism-hemiatrophy syndrome is a rare parkinsonian disorder characterized by unilateral body atrophy and slowly progressive, ipsilateral hemiparkinsonian signs (bradykinesia, rigidity, and tremor). Patients typically present with unilateral, action-induced dystonia, in upper or lower limbs, that progresses and becomes bilateral or with tremor which occurs predominantly at rest and progresses to hemiparkinsonism. Scoliosis, scapular winging, raised shoulders, brisk reflexes and extensor plantars are frequently associated." "" + "obsolete rare parkinsonian syndrome due to intoxication" "True" "true" + "manganese poisoning" "Manganese poisoning is associated with chronic inhalation of manganese particles by individuals who work with manganese ore. Clinical features include confusion; hallucinations; and an extrapyramidal syndrome (parkinson disease, secondary) that includes rigidity; dystonia; retropulsion; and tremor. (Adams, Principles of Neurology, 6th ed, p1213)" "" + "carbon monoxide-induced parkinsonism" "" + "cyanide-induced parkinsonism" "Cyanide-induced parkinsonism is a rare parkinsonian syndrome due to intoxication which develops in individuals surviving an acute cyanide intoxication episode or due to chronic exposure to small cyanide doses. It presents several weeks after acute exposure with progressive typical clinical features of parkinsonism including bradykinesia, rigidity, dystonia, hypomimia, hypokinetic dysarthria, postural instability and retropulsion but no resting or postural tremor. Brain MRI reveals bilateral lesions in the pallidum, posterior putamen, substantia nigra, subthalamic nucleus, temporal and occipital cortex, and cerebellum." "" + "intellectual disability-microcephaly-phalangeal-facial abnormalities syndrome" "" + "obsolete rare tremor disorder" "True" "true" + "obsolete rare choreic movement disorder" "True" "true" + "postinfectious autoimmune disease with chorea" "True" + "Sydenham chorea" "A neurological disorder characterized by rapid, jerky, irregular, and involuntary movements (chorea), especially of the face and limbs. Additional symptoms may include muscle weakness, slurred speech, headaches, and seizures." "" + "hemidystonia-hemiatrophy syndrome" "Hemidystonia-hemiatrophy (HD-HA) is a rare dystonia, usually caused by a static cerebral injury occurring at birth or during infancy, that is characterized by a combination of hemidystonia (HD), involving one half of the body, and hemiatrophy (HA) on the same side as the HD." "" + "obsolete rare myoclonus" "True" "true" + "obsolete rare disease with myoclonus as a major feature" "True" "true" + "obsolete epilepsy and/or ataxia with myoclonus as major feature" "" "true" + "obsolete non progressive epilepsy and/or ataxia with myoclonus as a major feature" "True" "true" + "obsolete progressive epilepsy and/or ataxia with myoclonus as a major feature" "True" "true" + "obsolete rare paroxysmal movement disorder" "True" "true" + "hyperekplexia" "A neurologic disorder classically characterised by pronounced startle responses to tactile or acoustic stimuli and hypertonia" "" + "sporadic hyperekplexia" "" + "obsolete rare genetic parkinsonian disorder" "True" "true" + "obsolete rare parkinsonian syndrome due to genetic neurodegenerative disease" "True" "true" + "obsolete inherited tremor disorder" "" "true" + "obsolete rare genetic myoclonus" "" "true" + "obsolete rare genetic disease with myoclonus as a major feature" "True" "true" + "intellectual disability-short stature-hypertelorism syndrome" "Intellectual disability-short stature-hypertelorism syndrome is a rare genetic syndromic intellectual disability affecting males characterized by short stature, mild to moderate intellectual deficits, craniofacial dysmorphism (prominent broad 'square' forehead, hypertelorism, depressed nasal bridge, broad nasal tip and anteverted nares) and early hypotonia present only until the age of 2. There have been no further descriptions in the literature since the original article in 1991 and it has been suggested that this condition represents an example of FG syndrome." "" + "obsolete disease with diffuse palmoplantar keratoderma as a major feature" "True" "true" + "obsolete autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature" "True" "true" + "obsolete disease with focal palmoplantar keratoderma as a major feature" "A disease in which focal palmoplantar keratoderma is a major feature.." "True" "true" + "focal acral hyperkeratosis" "" + "obsolete obsolete disease with punctate palmoplantar keratoderma as a major feature" "A disease in which punctate palmoplantar keratoderma is a major feature.." "" "true" + "obsolete obsolete autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature" "" "true" + "obsolete autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature" "" "true" + "erythrokeratoderma variabilis progressiva" "A type of erythrokeratoderma characterized by the association of hyperkeratosis and erythema in persistent, although sometimes variable, circumscribed lesions. Progressive symmetric erythrokeratoderma (PSEK) and erythrokeratoderma variabilis (EKV) are probably no longer two distinctive diseases but rather the two clinical manifestations of a same disease, now known as EKVP." "" + "intellectual disability-polydactyly-uncombable hair syndrome" "Intellectual disability-polydactyly-uncombable hair syndrome is a multiple congenital anomalies/dysmorphic syndrome characterized by intellectual disability, postaxial polydactyly, phalangeal hypoplasia, 2-3 toe syndactyly, uncombable hair and facial dysmorphism (including frontal bossing, hypotelorism, narrow palpebral fissures, nasal bridge and lips, prominent nasal root, large abnormal ears with prominent antihelix, poorly folded helix, underdeveloped lobule and antitragus, and micrognathia evolving into prognatism). Cryptorchidism, conductive hearing loss and progressive thoracic kyphosis were also reported." "" + "methylcobalamin deficiency type cblDv1" "" + "vitamin B12-responsive methylmalonic acidemia, type cblDv2" "" + "disorder of galactose metabolism" "" + "erythrocyte galactose epimerase deficiency" "" + "generalized galactose epimerase deficiency" "" + "glycogen storage disease due to acid maltase deficiency, infantile onset" "Glycogen storage disease due to acid maltase deficiency, infantile onset is the most severe form of glycogen storage disease due to acid maltase deficiency, characterized by cardiomegaly with respiratory distress, muscle weakness and feeding difficulties. It is often fatal." "" + "glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form" "" + "glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form" "" + "glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form" "" + "glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form" "" + "glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form" "" + "glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form" "" + "glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form" "" + "obsolete glycerol kinase deficiency" "" "true" + "peroxisomal single enzyme/protein defect" "Any peroxisomal disease in which the cause of the disease is a defect in a single enyme or protein." "" + "obsolete disorder of lipid metabolism" "" "true" + "congenital systemic veins anomaly" "" + "congenital anomaly of the great veins" "" + "pancreatic colipase deficiency" "" + "combined pancreatic lipase-colipase deficiency" "\"Combined pancreatic lipase-colipase deficiency is a disorder of lipid absorption and transport characterized by steatorrhea with foul-smelling stools from birth, diminished serum carotene and vitamin E and a combined deficiency of the pancreatic enzymes lipase and colipase. Patients are otherwise healthy and develop normally with no apparent pancreatic disease. There have been no further descriptions in the literature since 1990." "" + "inborn disorder of fatty acid oxidation and ketone body metabolism" "" + "gangliosidosis" "A group of autosomal recessive lysosomal storage disorders marked by the accumulation of gangliosides. They are caused by impaired enzymes or defective cofactors required for normal ganglioside degradation in the lysosomes. Gangliosidoses are classified by the specific ganglioside accumulated in the defective degradation pathway." "" + "Sandhoff disease, infantile form" "" + "Sandhoff disease, juvenile form" "" + "Sandhoff disease, adult form" "A Sandhoff disease that occurs in an adult." "" + "Tay-Sachs disease, b variant, infantile form" "" + "Tay-Sachs disease, b variant, juvenile form" "" + "Tay-Sachs disease, b variant, adult form" "" + "fixed subaortic stenosis" "Fixed subaortic stenosis (FSS) is a rare heart malformation characterized by the obstruction by membranous or fibromuscular tissue of the left ventricular outflow tract (LVOT) below the aortic valve, that occurs as an isolated lesion or in association with additional cardiac malformations (e.g. ventricular septal defect, patent ductus arteriosus, coarctation of the aorta), that presents in childhood with signs of LVOT obstruction (e.g. dyspnea, chest pain, syncope, palpitations) and that can potentially lead to life-threatening complications (e.g. aortic regurgitation, infective endocarditis). It comprises three anatomical subforms: discrete fixed membranous subaortic stenosis (membranous tissue encircling the LVOT), discrete fibromuscular subaortic stenosis (fibromuscular tissue encircling the LVOT) and tunnel subaortic stenosis (fibromuscular diffuse tunnel-like narrowing of the LVOT), the two latter forms being generally more severe than the membranous form." "" + "Tay-Sachs disease, B1 variant" "" + "metachromatic leukodystrophy, late infantile form" "" + "metachromatic leukodystrophy, adult form" "" + "glycoproteinosis" "" + "alpha-mannosidosis, infantile form" "" + "alpha-mannosidosis, adult form" "" + "aortic valve stenosis" "" + "intermediate severe Salla disease" "" + "disorder of O-N-acetylgalactosaminylglycan synthesis" "" + "disorder of GPI anchor biosynthesis" "A disease that has its basis in the disruption of GPI anchor biosynthetic process." "" + "obsolete Reye syndrome" "" "true" + "defect in V-ATPase" "" + "porphyrin metabolism disease" "A disease that has its basis in the disruption of porphyrin-containing compound metabolic process." "" + "bilirubin metabolism disease" "" + "disorder of metabolite absorption and transport" "" + "disorder of mineral absorption and transport" "" + "disorder of magnesium transport" "An acquired metabolic disease that is has its basis in the disruption of magnesium ion transport." "" + "post-bacterial disorder" "" + "Robinow-like syndrome" "Robinow-like syndrome is characterized by the association of the clinical features present in Robinow syndrome (short stature, mesomelic brachymelia, macrocephaly, and hypoplastic genitalia), with anterior chamber cleavage anomalies. It has been described in two sisters and is transmitted as an autosomal recessive trait." "" + "female infertility due to an implantation defect of genetic origin" "True" + "oral erosive lichen" "" + "nocardiosis" "Nocardiosis is a local (skin, lung, brain) or disseminated (whole body) acute, subacute, or chronic bacterial infection." "" + "obsolete rat-bite fever" "" "true" + "20p13 microdeletion syndrome" "20p13 microdeletion syndrome is a rare chromosomal anomaly characterized by developmental delay, mild to moderate intellectual disability, epilepsy, and unspecific dysmorphic signs. High palate, delayed permanent tooth eruption, hypoplastic fingernails, clinodactyly and short fingers have also been reported." "" + "12p12.1 microdeletion syndrome" "" + "developmental and speech delay due to SOX5 deficiency" "Developmental and speech delay due to SOX5 deficiency is a rare genetic syndromic intellectual disability characterized by mild to severe global developmental delay, intellectual disability and behavioral abnormalities, hypotonia, strabismus, optic nerve hypoplasia and mild facial dysmorphic features (down slanting palpebral fissures, frontal bossing, crowded teeth, auricular abnormalities and prominent philtral ridges). Other associated clinical features may include seizures and skeletal anomalies (kyphosis/scoliosis, pectus deformities)." "" + "congenital pancreatic cyst" "" + "Epstein-Barr virus-associated gastric carcinoma" "Epstein-Barr virus (EBV)-associated gastric carcinoma (EBVaGC) is a rare form of gastric carcinoma (seen in approximately 10% of cases) with a male predominance, characterized by a latent EBV infection in gastric carcinoma cells, diffuse-type histology, a proximal location (in the body and cardia of the stomach) and a relatively favorable prognosis." "" + "PENS syndrome" "PENS syndrome is a rare, genetic, neurocutaneous syndrome characterized by the presence of randomly distributed, small, white to yellowish, multiple, rounded or irregular polycyclically-shaped, epidermal keratotic papules and plaques of ''gem-like'' appearance with a rough surface, typically located on the trunk and proximal limbs, associated with variable neurological abnormalities, including psychomotor delay, epilepsy, speech and language impairment and attention deficit-hyperactivity disorder. Clumsiness, dyslexia and oftalmological abnormalities have also been reported." "" + "2q23.1 microduplication syndrome" "2q23.1 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 2, primarily characterized by global developmental delay, hypotonia, autistic-like features and behavioural problems. Craniofacial dysmorphism (arched eyebrows, hypertelorism, bilateral ptosis, prominent nose, wide mouth, micro/retrognathia) and an affable personality are also commonly associated. Minor digital anomalies (fifth finger clinodactyly and large, broad first toe) have occasionally been reported." "" + "erythroderma desquamativum" "" + "contractures - webbed neck - micrognathia - hypoplastic nipples syndrome" "" + "idiopathic linear interstitial keratitis" "Idiopathic linear interstitial keratitis is a rare, acquired ocular disease characterized by migratory or non-migratory, horizontal, linear, stromal infiltrates that may heal spontaneously. Minimal vascularization and scarring may be observed but vision loss is not associated." "" + "gastric adenocarcinoma and proximal polyposis of the stomach" "A rare hereditary gastric cancer characterized by proximal gastric polyposis and increased risk of early-onset, intestinal-type adenocarcinoma of the gastric body, with no duodenal or colorectal polyposis. This is an n-of-1 use case where only one patient or family has been described with this disorder." "" + "high bone mass osteogenesis imperfecta" "" + "7p22.1 microduplication syndrome" "7p22.1 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from a partial interstitial microduplication of the short arm of chromosome 7, characterized by intellectual disability, psychomotor and speech delays, craniofacial dysmorphism (including macrocephaly, frontal bossing, hypertelorism, abnormally slanted palpebral fissures, anteverted nares, low-set ears, microretrognathia) and cryptorchidia. Cardiac (e.g., patent foramen ovale and atrial septal defect), as well as renal, skeletal and ocular abnormalities may also be associated." "" + "marfanoid habitus-inguinal hernia-advanced bone age syndrome" "" + "Xq12-q13.3 duplication syndrome" "Xq12-q13.3 duplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome X, characterized by global developmental delay, autistic behavior, microcephaly and facial dysmorphism (including down-slanting palpebral fissures, depressed nasal bridge, anteverted nares, long philtrum, down-slanting corners of the mouth). Seizures have also been reported in some patients." "" + "obsolete ameloblastic carcinoma" "" "true" + "obsolete rare odontologic tumor" "Any of the forms of odontogenic neoplasm that have a rare incidence." "True" "true" + "Spigelian hernia-cryptorchidism syndrome" "" + "Meigs syndrome" "A rare syndrome affecting females. It is characterized by pleural effusion, ascites and non-malignant ovarian neoplasm. This syndrome usually follows a benign course. Prognosis is favorable following surgical resection of the ovarian mass." "" + "pseudo-Meigs syndrome" "" + "atypical Meigs syndrome" "" + "ovarian fibrothecoma" "Ovarian fibrothecoma is a rare, benign, sex cord-stromal neoplasm, with a typically unilateral location in the ovary, characterized by mixed features of both fibroma and thecoma. Patients may be asymptomatic or may present with pelvic/abdominal pain and/or distension and, occasionally, with post-menopausal bleeding. Large tumors (>10cm) are often associated with pleural effusion and ascites (the Meigs syndrome triad)." "" + "primary progressive apraxia of speech" "" + "autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome" "Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome is a rare neurologic disease characterized by global developmental delay, intellectual disability, multiple ischemic lesions in brain MRI, behavioral abnormalities, dystonia, choreic movements and pyramidal syndrome, facial dysmorphism (hypertelorism, arched palate, macroglossia), retinitis pigmentosa, scoliosis, seizures." "" + "intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome" "" + "growing teratoma syndrome" "A condition characterized by the presence of a growing mature teratoma in a patient during or after chemotherapy for a non-seminomatous germ cell tumor, with normal serum markers for human chorionic gonadotropin and alpha fetoprotein. Complete surgical resection is the preferred treatment." "" + "duplication of the pituitary gland" "" + "parkinsonism due to ATP13A2 deficiency" "" + "variant ABeta2M amyloidosis" "A rare form of amyloidosis characterized by accumulation and extensive visceral deposition of anamyloidogenic variant of beta 2 microglobulin leading to progressive gastrointestinal dysfunction, Sjögren syndrome and autonomic neuropathy." "" + "ABeta2M amyloidosis" "" + "severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion" "" + "segmental progressive overgrowth syndrome with fibroadipose hyperplasia" "" + "acquired porencephaly" "An instance of porencephaly that is acquired during the lifetime of the individual." "" + "primary systemic amyloidosis" "Primary systemic amyloidosis (PSA) is a form of AL amyloidosis caused by the aggregation and deposition of insoluble amyloid fibrils derived from misfolded monoclonal immunoglobulin light chains usually produced by a plasma cell tumor and characterized by multiple organ involvement." "" + "AL amyloidosis" "AL Amyloidosis is a plasma cell disorder characterized by the aggregation and deposition of insoluble amyloid fibrils derived from misfolding of monoclonal immunoglobulin light chains usually produced by a plasma cell tumor. It usually presents as primary systemic amyloidosis (PSA) with multiple organ involvement and less frequently as primary localized amyloidosis (PLA) restricted to a single organ." "" + "primary localized amyloidosis" "Primary localized amyloidosis is a form of AL amyloidosis caused by the aggregation of insoluble amyloid fibrils derived from misfolded monoclonal immunoglobulin light chains usually produced by a plasma cell tumor and characterized by localized amyloid deposition with clinical manifestations restricted to the organ involved, most frequently urinary tract (bladder), eye, respiratory tract (larynx, lungs), and skin." "" + "lethal arteriopathy syndrome due to fibulin-4 deficiency" "" + "atypical dentin dysplasia due to SMOC2 deficiency" "" + "obsolete obsolete disease with Cushing syndrome as a major feature" "A disease in which Cushing syndrome is a major feature." "" "true" + "obsolete functioning pituitary adenoma" "" "true" + "mixed functioning pituitary adenoma" "" + "somatomammotropinoma" "" + "silent pituitary adenoma" "" + "non-functioning pituitary adenoma" "A hormone producing or non-producing pituitary gland adenoma not associated with a hormonal syndrome." "" + "null pituitary adenoma" "" + "autosomal dominant proximal renal tubular acidosis" "Autosomal dominant proximal renal tubular acidosis (AD pRTA) is a form of proximal renal tubular acidosis (pRTA) characterized by an isolated defect in the proximal tubule leading to the decreased reabsorption of bicarbonate and consequently causing urinary bicarbonate wastage. Mild growth retardation and reduced bone density are extra-renal complications." "" + "severe Canavan disease" "Severe Canavan disease (CD) is a rapidly progressing neurodegenerative disorder characterized by leukodystrophy with macrocephaly, severe developmental delay and hypotonia." "" + "mild Canavan disease" "Mild Canavan disease (CD) is a neurodegenerative disorder characterized by mild speech delay or motor development." "" + "mycobacterium xenopi infection" "A disease caused by infection with Mycobacterium xenopi." "" + "primary hypereosinophilic syndrome" "" + "secondary hypereosinophilic syndrome" "" + "lymphocytic hypereosinophilic syndrome" "" + "erythrokeratoderma en cocardes" "Erythrokeratoderma 'en cocardes' is a rare genodermatosis characterised by circumscribed target-like (or 'en cocardes') erythematous hyperkeratotic lesions. These lesions, which remit and recur, affect the trunk and extremities and are accompanied by scaly plaques evocative of erythrokeratoderma variabilis. Onset usually occurs at birth or during early childhood. Only few cases have been described. Transmission is autosomal dominant." "" + "multiple sclerosis-ichthyosis-factor VIII deficiency syndrome" "Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome is characterized by the association of multiple sclerosis with lamellar ichthyosis and hematological anomalies (beta thalassemia minor and a quantitative deficit of factor VIII-von Willebrand complex). Other clinical manifestations may include eye involvement (optic atrophy, diplopia), neuromuscular involvement (ataxia, pyramidal syndrome, gait disturbance) and sensory disorder. There have been no further descriptions in the literature since 1992." "" + "classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form" "The salt wasting form of classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classical 21 OHD CAH) is characterized by virilization of the external genitalia in females, hypocortisolism, precocious pseudopuberty and renal salt loss due to aldosterone deficiency." "" + "classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form" "The simple virilizing form of classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classical 21 OHD CAH) is characterized by genital ambiguity and virilization of the external genitalia in females, hypocortisolism and precocious pseudopuberty without salt-wasting." "" + "Sezary syndrome" "Sezary syndrome (SS) is an aggressive form of cutaneous T-cell lymphoma characterized by a triad of erythroderma, lymphadenopathy and circulating atypical lymphocytes (Sezary cells)." "" + "Siegler-Brewer-Carey syndrome" "Siegler-Brewer-Carey syndrome is characterized by cataracts, otitis media, intestinal malabsorption, chronic respiratory infection, and failure to thrive. It has been recently described in two sibs born to consanguineous parents. The patients also developed recurrent pneumonia and progressive azotemia leading to end-stage renal disease. Both children died of overwhelming infection (sepsis, meningitis). An autosomal recessive mode of inheritance was proposed." "" + "sirenomelia" "Sirenomelia is a rare, genetic, developmental defect during embryogenesis disorder characterized by fusion of the lower limbs and associated with some degree of lower extremity reduction and persistent vitelline artery. Patients also present severe malformations of the musculoskeletal system (e.g. sacral agenesis), as well as the urogenital and lower gastrointestinal tracts (e.g. renal agenesis, absent bladder, rectal/anal atresia, and absent internal genitalia). Most cases are stillborn, or die during, or shortly after, birth." "" + "erythrokeratodermia variabilis" "A rare genetic chronic skin disorder characterized by hyperkeratosis and transient erythema. Mutations in GJB3 and GJB4 genes have been identified as causative agents." "" + "infantile spasms-broad thumbs syndrome" "A rare neurologic disorder characterized by profound developmental delay, facial dysmorphism (i.e. microcephaly, large anterior fontanel, hypertelorism, downslanting palpebral fissures, beaked nose, micrognathia), broad thumbs and flexion and/or extension spasms. Bilateral cataracts, hypertrophic cardiomyopathy and hydrocele have also been reported. EEG shows hypsarrhythmic features and MRI may reveal partial agenesis of the corpus callosum, mild brain atrophy and/or ventriculomegaly. There have been no further descriptions in the literature since 1990." "" + "obsolete T-b+ severe combined immunodeficiency" "" "true" + "X-linked spasticity-intellectual disability-epilepsy syndrome" "" + "spina bifida-hypospadias syndrome" "Spina bifida-hypospadias syndrome is a rare developmental defect during embryogenesis characterized by the specific association of glandular hypospadias and lumbo-sacral spina bifida. Affected individuals may or may not present additional congenital anomalies, such as hydrocephaly, microstomia, patent ductus arteriosus, cryptorchidism, intestinal malrotation, rocker-bottom feet, and hypertrichosis." "" + "colchicine poisoning" "A potentially life-threatening poisoning, due to ingestion of the drug or consumption of the plant Colchicum autumnale, that usually begins with gastrointestinal symptoms (e.g. abdominal pain, nausea, vomiting, and diarrhea, that cause severe dehydration) and an initial leukocytosis leading to marrow failure (24 hours after ingestion), followed by potentially fatal multi-organ failure with mental status change, oliguric renal failure, disseminated intravascular coagulation, electrolyte imbalance, acid-base disturbance, cardiac failure/arrest and shock within 1-3 days." "" + "methanol poisoning" "Methanol poisoning is a rare poisoning resulting in elevated anion gap metabolic acidosis, due to the alcohol dehydrogenase (ADH)-mediated production of formic acid (which is poisonous to the central nervous system), and characterized by dizziness, nausea, vomiting, confusion, metabolic acidosis, visual disturbances (which if left untreated can lead to blindness), coma, and death (due to respiratory failure)." "" + "ethylene glycol poisoning" "Ethylene glycol poisoning is a rare poisoning resulting in elevated anion gap metabolic acidosis, due to the production of glycolic acid, glyoxylic acid, and oxalic acid by alcohol dehydrogenase (ADH) in the liver when ethylene glycol is metabolized, characterized initially by euphoria, slurred speech, encephalopathy, coma and seizures, and followed by late manifestations such as tachycardia, arrhythmias, myocardial depression, hemodynamic imbalance and, finally, acute renal failure." "" + "paraquat poisoning" "Paraquat poisoning is a rare intoxication with paraquat (a non-selective bipyridilium herbicide that has been banned in Europe), usually occurring through ingestion of the poison, and that presents with caustic injury of the oral cavity and pharynx, as well as nausea, vomiting, epigastric pain, lethargy, loss of consciousness and fever. Patients may develop potentially life-threatening complications such as hepatic dysfunction, acute tubular necrosis and renal insufficiency, and respiratory failure (due to pulmonary fibrosis) due to its inherent toxicity and lack of effective treatment. Intoxication via inhalation, injection and dermal or mucus contact have also been reported." "" + "digitalis poisoning" "Digitalis (digoxin) poisoning is a potentially life-threatening poisoning that provokes conduction disturbances, characterized by increased automaticity and decreased conduction. Acute poisoning presents with the common initial manifestations of nausea and vomiting, cardiovascular manifestations (bradycardia, heart block and a variety of dysrhythmias), central nervous system manifestations (lethargy, confusion and weakness) and hyperkalemia. Chronic poisoning is more insidious, manifesting with gastrointestinal symptoms, altered mental status, and visual disturbances." "" + "congenital pulmonary veins atresia or stenosis" "Congenital pulmonary vein (PV) stenosis or atresia is a rare progressive life-threatening great vessels anomaly characterized by narrowing and obstruction of one or more normally positioned PV at their junction with the left atrium, that usually presents during early infancy with dyspnea, tachypnea, and repeated pulmonary infections, and eventually, when all PV of one lung are affected, results in pulmonary hypertension (PH) and consecutive pulmonary arterial hypertension (PAH). It may manifest as an isolated lesion or associated with other cardiac defects such as congenital pulmonary venous return anomaly and septal defects." "" + "subpulmonary stenosis" "" + "distal 17p13.1 microdeletion syndrome" "Distal 17p13.1 microdeletion syndrome is a rare chromosomal anomaly syndrome characterized by mild global developmental delay/intellectual disability with poor to absent speech, dysmorphic features (long midface, retrognathia with overbite, protruding ears), microcephaly, failure to thrive, wide-based gait and a body posture with knee and elbow flexion and hands held in a midline." "" + "diencephalic-mesencephalic junction dysplasia" "Diencephalic-mesencephalic junction dysplasia is a rare, genetic, non-syndromic cerebral malformation characterized by severe intellectual disability, progressive postnatal microcephaly, axial hypotonia, spastic quadriparesis, seizures and facial dysmorphism (bushy eyebrows, hairy forehead, broad nasal root, long flat philtrum, V-shaped upper lip). Additionaly, talipes equinovarus, non-obstructive cardiomyopathy, persistent hyperplastic primary vitreous, obstructive hydrocephalus and autistic features may also be associated. On brain magnetic resonance imaging, the 'butterfly sign' is characterisitcally observed and cortical calcifications, agenesis of the corpus callosum, ventriculomegaly, brainstem dysplasia and cerebellar vermis hypoplasia have also been described." "" + "chondroectodermal dysplasia with night blindness" "Chondroectodermal dysplasia with night blindness is a rare genetic bone development disorder characterized by proportionate short stature, nail dysplasia (enlarged, convex, hypertrophic nails), hypodontia and night blindness. Osteopenia, a tendency to present fractures, talipes varus with abnormal gait, ear infections, and watering eyes due to narrow tear ducts are frequently associated. Radiologically patients present delayed bone age on wrist X-rays, platyspondyly, and broad metaphyses of humeri with dense and thickened growth plates." "" + "supravalvular pulmonary stenosis" "" + "bilateral massive adrenal hemorrhage" "" + "Lujo hemorrhagic fever" "Lujo hemorrhagic fever, caused by the Lujo virus (a newly discovered Old World arenavirus) is a zoonotic disease from Zambia, Africa, whose reservoir is unknown and is characterized by fever and hemorrhagic manifestations with an extremely high fatality rate of 80% (in the 5 reported cases to date) and a moderate to high level of nosocomial transmission." "" + "obsolete Ebola hemorrhagic fever" "" "true" + "Argentine hemorrhagic fever" "Argentine hemorrhagic fever (AHF), caused by the Junin virus (JUNV), is an acute viral hemorrhagic disease characterized by initial fever and malaise followed by gastrointestinal symptoms and in some cases hemorrhagic and neurological manifestations." "" + "Bolivian hemorrhagic fever" "Bolivian hemorrhagic fever (BHF), caused by the Machupo virus (MACV), is a severe acute viral hemorrhagic fever characterized by fever, myalgia, and arthralgia followed by hemorrhagic and neurological manifestations." "" + "Venezuelan hemorrhagic fever" "Venezuelan hemorrhagic fever (VHF), caused by the Guanarito virus, is a viral hemorrhagic disease characterized by fever, headache, arthralgia, sore throat, convulsions, and hemorrhagic manifestations." "" + "Brazilian hemorrhagic fever" "Brazilian hemorrhagic fever, caused by the Sabia virus (a newly discovered arenavirus), is a viral hemorrhagic fever, believed to originate from Sao Paulo, Brazil, with only 3 reported cases (2 of which were due to laboratory accidents) to date, characterized by fever, nausea vomiting myalgia tremors, and hemorragic manifestations such as conjunctival petechia and haematemesis, leading potentially to shock, coma and death." "" + "Chapare hemorrhagic fever" "Chapare hemorrhagic fever, caused by the Chapare virus (a new arenavirus), discovered from a small outbreak in Cochabamba, Bolivia between 2003 and 2004, is an acute viral hemorrhagic fever characterized by fever, myalgia, arthralgia, and multiple hemorrhagic signs. About a third of untreated cases go on to develop more severe symptoms with delirium, coma and convulsions and death (in one case). No other cases have been reported since." "" + "hantavirus pulmonary syndrome" "An infection caused by Hantaviruses. It manifests with flu-like symptoms but it rapidly progresses to life-threatening respiratory problems." "" + "Rift valley fever" "Rift Valley fever (RVF), caused by the Rift Valley fever virus (RVFV), is an arbovirus characterized by a usually self-limiting febrile illness but that in some cases can also manifest with thrombosis, vision loss, hemorrhages and/or neurological symptoms." "" + "Omsk hemorrhagic fever" "Omsk hemorrhagic fever (OHF), caused by Omsk hemorrhagic fever virus (OHFV), is a zoonotic disease characterized by fever, nausea, myalgia and moderately severe hemorrhagic manifestations as well as in some cases meningitis, pneumonia and nephrosis." "" + "obsolete multilocular cystic clear cell renal cell neoplasm of low malignant potential" "" "true" + "renal cell carcinoma associated with neuroblastoma" "Renal cell carcinoma that develops in patients who are long-term survivors of childhood neuroblastoma." "" + "" "true" + "obsolete mucinous tubular and spindle cell renal carcinoma" "" "true" + "tubulocystic renal cell carcinoma" "Tubulocystic renal cell carcinoma is an extremely rare subtype of renal cell carcinoma most frequently characterized by a small, solitary, well-circumscribed, unencapsulated renal tumor composed of multiple small to medium-sized cysts with a white or gray, spongy (\"bubble wrap-like\") cut surface. Patients are usually asymptomatic or could manifest with abdominal pain, abdominal distension and/or hematuria. Progression, recurrence and metastasis rarely occur although lymph node, bone, pleura and liver mestatsis have been reported." "" + "autosomal recessive myogenic arthrogryposis multiplex congenita" "Autosomal recessive myogenic arthrogryposis multiplex congenita is a rare inherited neuromuscular disease characterized by prenatal presentation (usually in the second trimester) of reduced fetal movements and abnormal positioning resulting in joint abnormalities that may involve both lower and upper extremities and is usually symmetric, severe hypotonia at birth with bilateral club foot, motor development delay, mild facial weakness without opthalmoplegia, absent deep tendon reflexes, normal motor and sensory nerve conduction velocities, no cerebellar or pyramidal involvement, and progressive disease course with loss of ambulation after the first decade of life." "" + "acute myeloid leukemia with CEBPA somatic mutations" "Acute myeloid leukemia with CEBPA somatic mutations is a subtype of acute myeloid leukemia with recurrent genetic abnormalities, characterized by clonal proliferation of myeloid blasts harboring somatic mutations of the CEBPA gene in the bone marrow, blood and, rarely, other tissues. It can present with anemia, thrombocytopenia, and other nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly)." "" + "mendelian susceptibility to mycobacterial diseases due to a complete deficiency" "" + "mendelian susceptibility to mycobacterial diseases due to a partial deficiency" "" + "autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency" "Mendelian susceptibily to mycobacterial diseases (MSMD) due to complete interferon gamma receptor 2 (IFN-gammaR2) deficiency is a genetic variant of MSMD characterized by a complete deficiency in IFN-gammaR2, leading to an undetectable response to IFN-gamma, and consequently, to severe and often fatal infections with bacillus Calmette-GuC)rin (BCG) and other environmental mycobacteria (EM)." "" + "autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency" "Autosomal recessive (AR) mendelian susceptibility to mycobacterial diseases (MSMD) due to partial IFN-gammaR1 deficiency is a genetic variant of MSMD characterized by a partial deficiency in IFN-gammaR1, leading to a residual response to IFN-gamma and, consequently, to recurrent, moderately severe infections with bacillus Calmette-GuC)rin (BCG) and other environmental mycobacteria (EM)." "" + "autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency" "Autosomal recessive mendelian susceptibility to mycobacterial diseases (MSMD) due to partial IFNgammaR2 deficiency is a genetic variant of MSMD characterized by a partial deficiency in IFN-gammaR2, leading to a residual response to IFN-gamma and consequently to recurrent, moderately severe infections with bacillus Calmette-GuC)rin (BCG) and other environmental mycobacteria (EM)." "" + "autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency" "Autosomal dominant (AD) mendelian susceptibility to mycobacterial diseases (MSMD) due to partial interferon gamma receptor 2 (IFN-gammaR2) deficiency is a genetic variant of MSMD characterized by a partial deficiency in IFN-gammaR2, leading to impaired response to IFN-gamma and, consequently, to recurrent, moderately severe infections with bacillus Calmette-GuC)rin (BCG) and other environmental mycobacteria (EM)." "" + "steroid dehydrogenase deficiency-dental anomalies syndrome" "Steroid dehydrogenase deficiency-dental anomalies syndrome is an autosomal recessive liver disease which was associated with numerical dental aberrations in a consanguineous Arabi Saudi family. This association suggests that the same gene is involved in both defects. General hypomineralisation and enamel hypoplasia found in this family is thought to be secondary to malabsorption due to liver disease." "" + "amyloidosis cutis dyschromia" "Amyloidosis cutis dyschromia is a rare primary cutaneous amyloidosis characterized by macular or reticulate hyperpigmentation with symmetrically distributed guttate hypo- and hyperpigmented lesions which progress gradually over the years to involve almost the entire body (with relative sparing of the face, hands, feet and neck). Patients are usually asymptomatic, however mild pruritus may be associated. Amyloid deposition in the papillary dermis is observed on skin biopsy. Systemic amyloidosis is not present and association with generalized morphea, atypical Parkinsonism, spasticity, motor weakness or colon carcinoma is rare." "" + "primary lymphoma of the conjunctiva" "Primary lymphoma of the conjunctiva is an extremely rare clonal lymphoid proliferation of the ocular surface, with an indolent course. Clinically it presents with treatment-resistant conjunctivitis, ptosis, excessive tear production or as a painless, salmon-pink, ''fleshy'' patch, with a smooth or multinodular surface, on the bulbar conjunctiva. Histologically it is usually B-cell Non-Hodgkin lymphoma (most often extranodal marginal zone B-cell lymphoma, followed by follicular and diffuse large B-cell lymphoma), with conjunctival T-cell Non-Hodgkin lymphoma being very rare." "" + "obsolete hyperekplexia" "" "true" + "obsolete cleft lip/palate-ectodermal dysplasia syndrome" "" "true" + "pure or complex hereditary spastic paraplegia" "" + "maternally-inherited spastic paraplegia" "A rare, genetic, complex hereditary spastic paraplegia disorder characterized by adulthood-onset of slowly progressive, bilateral, mainly lower limb spasticity and distal weakness associated with lower limb pain, hyperreflexia, and reduced vibration sense. Axonal neuropathy is frequently observed on electromyography and nerve conduction examination." "" + "white matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome" "White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome is a very rare neurological condition. The few patients described in the medical literature were characterized by brain anomalies; an unusual face with broad nasal root, wide spaced eyes (hypertelorism) and a very small chin (micrognathia); failure to thrive; severe intellectual disability ;and lack of muscle tone (hypotonia). Exams of the brain showed a poor development (hypoplasia) of the pale part of the brain known as white matter, and an absent or abnormal corpus callosum (nerve fibers joining the two hemispheres of the brain). Only a few cases have being described. The cause is unknown but may be related to a disorder of axonal development. The described cases seem to be inherited in an autosomal recessive or X-linked way. Corpus callosum agenesis is one of the more frequent congenital malformations. It can be either asymptomatic or associated with intellectual disability, epilepsy, or psychiatric syndromes. It can be part of several genetic syndromes, such as Aicardi syndrome, Andermann syndrome and Apert syndrome, trisomies 13, 18 ; or result from metabolic causes; drugs (cocaine); or viral infection (influenza). Many patients with corpus callosum anomalies have other brain anomalies, including white matter hypoplasia. There is no information on specific treatment for this condition." "" + "deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome" "Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome is characterised by sensorineural deafness, bilateral synostosis of the 4th and 5th metacarpals and metatarsals, genital anomalies (hypospadias in males), psychomotor delay and abnormal dermatoglyphics. So far, it has been described in two unrelated patients. Facial dysmorphism was noted in both patients (prominent forehead, ear anomalies, facial asymmetry and an open mouth appearance)." "" + "hearing loss-familial salivary gland insensitivity to aldosterone syndrome" "Hearing loss-familial salivary gland insensitivity to aldosterone syndrome is characterised by bilateral moderate-to-severe sensorineural hearing loss and salivary gland insensitivity to aldosterone resulting in hyponatremia. It has been described in two brothers. Transmission appeared to be autosomal recessive." "" + "central nervous system calcification-deafness-tubular acidosis-anemia syndrome" "This syndrome is characterised by progressive calcification of the brain and spinal cord, growth retardation, psychomotor anomalies, deafness and anaemia. Renal tubular acidosis was found in one patient. To date, this syndrome has been described in only two patients from one family." "" + "T-cell immunodeficiency with epidermodysplasia verruciformis" "T-cell immunodeficiency with epidermodysplasia verruciformis is a rare primary immunodeficiency characterized by increased susceptibility to infection by human papillomavirus, presenting in childhood with disseminated flat wart-like cutaneous lesions. Burkitt lymphoma has also been reported. Whilst total T-cell counts are normal, there is impaired TCR signaling, profound peripheral naive T-cell lymphopenia with memory T-cells displaying an exhaustion phenotype." "" + "multiple paragangliomas associated with polycythemia" "" + "severe lateral tibial bowing with short stature" "Severe lateral tibial bowing with short stature is a rare, genetic, primary bent bone dysplasia characterized by significant, uni-/bilateral, lateral tibial bowing localized to the distal two-thirds of the tibia, with respective cortical thickening and thinning of the inner and outer tibial curve, loss of normal trabecular bone, bilateral abnormalities of the tibial epiphyses and growth plates, as well as foot abnormalities, including abnormally high arches. Affected individuals have short stature with absence of other skeletal abnormalities." "" + "9p13 microdeletion syndrome" "9p13 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from a partial interstitial deletion of the short arm of chromosome 9, characterized by mild to moderate developmental delay, hand tremors, myoclonic jerks, attention deficit-hyperactivity disorder and a social personality. Patients also present bruxism, short stature and minor facial dysmorphic features (e.g., bilateral epicantic folds, broad, flat nasal bridge, anteverted nares, low-set ears micro/retro-gnathia)." "" + "congenital achiasma" "Congenital achiasma is a rare, genetic, non-syndromic cranial nerve and nuclear aplasia malformation characterized by the congenital absence of the optic chiasm, resulting from the failure of the optic nerve fibers to cross over and decussate to the contralateral hemisphere, leading to decreased vision, strabismus and congenital nystagmus in infancy." "" + "mixed sclerosing bone dystrophy with extra-skeletal manifestations" "" + "hereditary inclusion body myopathy type 4" "Hereditary inclusion body myopathy type 4 is a rare non-dystrophic myopathy characterized by slowly progressive muscular weakness and atrophy initially involving proximal lower limbs and hip girdle and later on shoulder girdle, proximal upper limbs and axial muscles. Ambulation is usually preserved. Congophilic inclusions with cytoplasmic inclusions of 15-21 nm filaments on electron microscopy are revealed in muscle biopsy." "" + "muscular hypertrophy-hepatomegaly-polyhydramnios syndrome" "" + "hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation" "Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation is a mitochondrial oxidative phosphorylation disorder characterized by hypertrophic and dilated cardiomyopathy, failure to thrive, myopathy with generalized hypotonia and increased creatine kinase, developmental delay and/or regression with cerebral atrophy on brain MRI, renal manifestations including chronic renal failure, renal tubular acidosis and lactic acidosis. Additional clinical features include seizures and respiratory failure." "" + "aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome" "Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by moderate to severe intellectual disability, congenital aphonia, hearing loss, optic atrophy, retinal dystrophy, broad thumbs and duplicated halluces. Facial dysmorphism (incl. thick eyebrows, ptosis, long, downslanting palpebral fissures, microstomia, low-set, posteriorly rotated ears) and genital abnormalities are also associated." "" + "hyperinsulinism due to HNF1A deficiency" "Hyperinsulinism due to HNF1A deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI), characterized by transient or persistent hyperinsulinemic hypoglycemia (HH) in infancy that is responsive to diazoxide, evolving in to maturity-onset diabetes of the young subtype 1 (MODY-1) later in life." "" + "benign Samaritan congenital myopathy" "Benign Samaritan congenital myopathy is a rare, genetic, skeletal muscle disease characterized by severe neonatal hypotonia with respiratory insufficiency, delay in motor milestones, and dysmorphic features including bitemporal narrowing, epicanthal folds and hypertelorism. Affected individuals show gradual improvement in hypotonia and muscle weakness within the first two years of life resulting in minimal clinical manifestations in adulthood." "" + "autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain" "" + "obsolete X-linked cleft palate and ankyloglossia" "" "true" + "classic multiminicore myopathy" "" + "autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation" "Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation is a rare form of axonal peripheral sensorimotor neuropathy characterized by classical CMT2 signs and symptoms (progressive weakness and atrophy of distal limb muscles, mild sensory deficits of position, vibration and pain/temperature, pes cavus, and symmetrically absent or reduced muscle and sensory action potentials with relatively preserved nerve conduction velocities in neurophysiological studies) as well as pyramidal tract involvement (spasticity, hyperreflexia). Spasticity and pain may be the presenting symptoms." "" + "chikungunya" "An infection that is caused by the Chikungunya virus, which is transmitted by mosquitoes; it is characterized by fever and severe arthralgia." "" + "Hendra virus infection" "Hendra virus infection is a rare viral infection disorder caused by the Hendra virus characterized by onset of flu-like symptoms (fever, myalgia, headaches, lethargy) approximately one week after having been in close contact with bodily fluids of infected horses. Neurological manifestations (e.g. vertigo, confusion, ataxia) and progressive respiratory failure, leading to death, have also been reported." "" + "autoerythrocyte sensitization syndrome" "" + "invasive non-typhoidal salmonellosis" "Invasive non-typhoidal salmonellosis (iNTS) is a rare bacterial infectious disease caused by extraintestinal infection of non-typhoidal serotypes of Salmonella enterica in patients with underlying HIV infection, malaria or malignancy. It has a high mortality rate and patients typically present with fever, pallor and respiratory signs (cough, tachnypnea, pneumonia). Gastrointestinal manifestations (diarrhea, vomit, abdominal pain) are not common. Occasionally, organ absseses, septic shock and meningitis may be observed." "" + "ABetaL34V amyloidosis" "Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Piedmont type is a form of HCHWA characterized by an age of onset between 50-70 years of age, recurrent lobar intracerebral hemorrhages and cognitive decline." "" + "ABeta amyloidosis, Iowa type" "Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Iowa type is a form of HCHWA characterized by age of onset between 50-66 years of age, memory impairment, myoclonic jerks, expressive dysphagia, short-stepped gait, personality changes and lobar intracerebral hemorrhages." "" + "ABeta amyloidosis, Italian type" "Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Italian type is a form of HCHWA characterized by an age of onset of 50 years of age, dementia and lobar intracerebral hemorrhage." "" + "ABetaA21G amyloidosis" "Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Flemish type is a form of HCHWA characterized by an age of onset of 45 years of age, progressive Alzheimer's disease-like dementia and lobar intracerebral hemorrhage in some patients." "" + "ABeta amyloidosis, Arctic type" "Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Arctic type is a form of HCHWA characterized by an age of onset of 54-61 years and progressive Alzheimer's disease-like dementia, without intracerebral hemorrhages." "" + "magic syndrome" "" + "obsolete JMP syndrome" "" "true" + "obsolete CANDLE syndrome" "" "true" + "46,XX disorder of sex development induced by androgens excess" "" + "46,XX disorder of sex development induced by endogenous maternal-derived androgen" "" + "46,XX disorder of sex development induced by maternal-derived androgen" "" + "46,XX disorder of sex development induced by exogenous maternal-derived androgen" "" + "testicular agenesis" "" + "46,XY ovotesticular disorder of sex development" "46,XY ovotesticular disorder of sex development is a rare, genetic disorder of sex development characterized by either the coexistence of both male and female reproductive gonads or, more frequently, by the presence of one or both gonads containing a mixture of both testicular and ovarian tissue (ovotestes) in an individual with a normal male 46, XY karyotype. External genitalia are usually ambiguous, but can range from normal male to normal female and if a uterus and/or fallopian tubes are present, they are generally hypoplastic. Cryptorchidism, hypospadias, infertility and increased risk of gonadal tumours are frequently associated." "" + "46,XY disorder of sex development due to impaired androgen production" "True" + "46,XY disorder of sex development due to a testosterone synthesis defect" "True" + "classic congenital lipoid adrenal hyperplasia due to STAR deficency" "" + "non-classic congenital lipoid adrenal hyperplasia due to STAR deficency" "" + "46,XY disorder of sex development induced by maternal-exposure to endocrine disruptors" "" + "obsolete disorder of sex development of gynecological interest" "" "true" + "obsolete 46,XY disorder of sex development of gynecological interest" "" "true" + "obsolete syndrome with disorder of sex development of gynecological interest" "" "true" + "syngnathia multiple anomalies" "" + "syngnathia-cleft palate syndrome" "" + "obsolete humeroradial synostosis" "" "true" + "familial lambdoid synostosis" "Familial lambdoid synostosis is a rare, genetic cranial malformation characterized by unilateral or bilateral synostosis of the lambdoid suture in multiple members of a single family. Unilateral cases typically present ipsilateral occipitomastoid bulge, compensatory contralateral parietal and frontal bossing, displacement of one ear, lateral deviation of jaw and compensatory deformation of cervical spine while bilateral cases usually manifest with flat and widened occiput, displacement of both ears and frequent occurrence of raised intracranial pressure." "" + "syringomyelia" "Syringomyelia is characterised by cerebrospinal fluid (CSF)-filled cavities (syrinx) inside the spinal cord, either as a result of a known cause (secondary syringomyelia, SS) or, more rarely, due to an unknown cause (primary syringomyelia, PS)." "" + "multifocal atrial tachycardia" "Multifocal atrial tachycardia is a rare supraventricular arrhythmia in neonates and young infants that is characterized by multiple P waves with varying P wave morphology and is usually asymptomatic." "" + "His bundle tachycardia" "His bundle tachycardia is a very rare congenital genetic tachyarrhythmia characterized by incessant tachycardia and high morbidity and mortality." "" + "polymorphic ventricular tachycardia" "A ventricular tachycardia that is irregular in rate and rhythm." "" + "Takayasu arteritis" "Takayasu arteritis (TAK) is a rare inflammatory large-vessel vasculitis primarily affecting the aorta and its major branches, but also other large vessels, causing stenosis, occlusion, or aneurysm." "" + "autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis" "" + "cerebral sinovenous thrombosis" "A rare but serious cerebrovascular disorder involving thrombosis of the cerebral venous system. It affects children from the newborn period through childhood and adolescence. In childhood CSVT, acute infections of the head and neck such as mastoiditis are most common, followed by chronic underlying diseases such as nephrotic syndrome, cancer, and inflammatory bowel disease. Signs and symptoms are also age related. Seizures and altered mental status are the commonest manifestations in newborns. Headache, vomiting, and lethargy, sometimes with 6th nerve palsy, are the most common symptoms in children and adolescents." "" + "severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency" "" + "spondylocostal dysostosis-hypospadias-intellectual disability syndrome" "" + "obsolete blepharophimosis - intellectual disability syndrome due to UBE3B deficiency" "" "true" + "telecanthus-hypertelorism-strabismus-pes cavus syndrome" "Telecanthus-hypertelorism-strabismus-pes cavus syndrome is characterized by telecanthus, hypertelorism, strabismus, pes cavus and other variable anomalies. It has been described in a father and his son. The son also had hypospadias, bilateral inguinal hernia, clinodactyly and camptodactyly of the fingers, and radiographic findings including flared metaphyses of the long bones and osteopenia." "" + "fatty acid hydroxylase-associated neurodegeneration" "Fatty acid hydroxylase-associated neurodegeneration (FAHN) is a very rare, autosomal recessive form of neurodegeneration with brain iron accumulation (NBIA) characterized by childhood-onset focal dystonia, progressive spastic paraplegia that progresses to tetra paresis, ataxia, dysarthria, intellectual decline, and oculomotor disturbances (optic atrophy), accompanied by iron deposition in the globus pallidus." "" + "hereditary thrombocytosis with transverse limb defect" "Thrombocythemia with distal limb defects is a rare, genetic syndrome with limb reduction defects characterized by thrombocytosis, unilateral transverse limb defects (ranging from absence of phalanges to absence of hand or forearm) and splenomegaly." "" + "inverse Klippel-Trenaunay syndrome" "" + "limbic encephalitis with DPP6 antibodies" "" + "acute megakaryoblastic leukemia without down syndrome" "" + "acute megakaryoblastic leukemia" "Acute megakaryoblastic leukemia (AMKL) is a form of acute myeloid leukemia (AML) that occurs predominantly in childhood and particularly in children with Down syndrome (DS-AMKL). Nonspecific symptoms may be irritability, weakness, and dizziness while specific symptoms include pallor, fever, mucocutaneous bleeding, hepatosplenomegaly, neurological manifestations and rarely lymphadenopathy. Acute panmyelosis with myelofibrosis may also be associated with AMKL. In contrast to DS-AMKL (around 80 % survival), non-DS-AMKL is an AML subgroup associated with poor prognosis." "" + "spastic paraplegia-Paget disease of bone syndrome" "Spastic paraplegia-Paget disease of bone syndrome is an extremely rare, complex form of hereditary spastic paraplegia characterized by a slowly progressive spastic paraplegia (with increased muscle tone, decreased strength in the anterior tibial muscles and hyperreflexia in the lower extremities with Babinski sign) presenting in adulthood, associated with Paget disease of the bone. Cognitive decline, dementia and myopathic changes at muscle biopsy have not been reported." "" + "adult-onset distal myopathy due to VCP mutation" "Adult-onset distal myopathy due to VCP mutation is a rare, genetic distal myopathy disorder characterized by middle age-onset of distal leg muscle weakness, atrophy in the anterior compartment resulting in foot drop, without proximal or scapular skeletal muscle weakness. Rapidly progressive dementia, Paget disease of bone and hand weakness have been reported. Muscle biopsy shows pronounced myopathic changes with rimmed vacuoles." "" + "mosaic genome-wide paternal uniparental disomy" "" + "autosomal uniparental disomy" "" + "idiopathic giant cell myocarditis" "" + "non-hypoproteinemic hypertrophic gastropathy" "Non-hypoproteinemic hypertrophic gastropathy is a rare gastroesophageal disease characterized by diffusely enlarged gastric folds, excessive mucus secretion, normal serum protein and gastric TGF-alpha levels. Patients typically present anemia, abdominal pain not related to eating or bowel habits and absence of peripheral edema." "" + "juvenile overlap myositis" "Juvenile overlap myositis is a rare juvenile idiopathic inflammatory myopathy characterized by the association of inflammatory myositis (manifesting with acral erythema, progressive weakness of the limbs, pain, general fatigue, moodiness or crankiness) with clinical and/or laboratory features of other autoimmune diseases (e.g. systemic lupus erythematosus, localized scleroderma, diabetes). Cardiac involvement has been reported in some patients." "" + "obsolete tetanus" "" "true" + "transient neonatal multiple acyl-CoA dehydrogenase deficiency" "Transient neonatal multiple acyl-CoA dehydrogenase deficiency describes a very rare condition where a maternal riboflavin deficiency causes an infant to present with manifestations similar to those seen in multiple acyl-CoA dehydrogenase (MAD) deficiency such as poor suck, metabolic acidosis and hypoglycemia, but that resolves completely with oral riboflavin. In the one patient described haploinsufficiency of the human riboflavin transporter (hRFT1) was described in the mother." "" + "intermittent hydrarthrosis" "" + "classic neuroendocrine tumor of appendix" "Classic endocrine tumor of the appendix is a type of endocrine tumor of the appendix, seen twice as frequently in females than in males, and usually presenting before the fifth decade of life. Classic endocrine tumor of the appendix is usually asymptomatic when located in the tip of the appendix (without obstruction), but acute appendicitis is often associated." "" + "goblet cell carcinoma" "Goblet cell carcinoma (GCC) is an aggressive type of endocrine tumor of the appendix presenting equally in males and females in the fifth decade of life and manifesting with a palpable mass and abdominal pain or acute appendicitis. Metastasis to the ovaries, peritoneum or right colon has usually already occurred in half of patients at the time of diagnosis." "" + "wild type ATTR amyloidosis" "" + "lead poisoning" "5 ug/dL) is reported to lead to irreversible effects such as loss of cognition, shortening of attention span, alteration of behavior, dyslexia, attention deficit disorder, hypertension, renal impairment, immunotoxicity and toxicity to the reproductive organs." "" + "hypotrichosis-deafness syndrome" "" + "hemoglobin Lepore-beta-thalassemia syndrome" "" + "hemoglobin M disease" "" + "chronic actinic dermatitis" "" + "tetraploidy syndrome" "The presence of four sets of chromosomes. It is associated with abnormalities, multiple; and miscarrages." "" + "polyploidy" "The chromosomal constitution of a cell containing multiples of the normal number of chromosomes; includes triploidy (symbol: 3N), tetraploidy (symbol: 4N), etc." "" + "duplication/inversion 15q11" "Isodicentric chromosome 15 syndrome is a chromosome abnormality that affects many different parts of the body. As the name suggests, people with this condition have an extra chromosome (called an isodicentric chromosome 15) which is made of two pieces of chromosome 15 that are stuck together end-to-end. Although the severity of the condition and the associated features vary from person to person, common signs and symptoms include poor muscle tone in newborns; developmental delay; mild to severe intellectual disability; delayed or absent speech; behavioral abnormalities; and seizures. Most cases of isodicentric chromosome 15 syndrome occur sporadically in people with no family history of the condition. Treatment is based on the signs and symptoms present in each person." "" + "tetrasomy 5p" "Tetrasomy 5p is a rare chromosomal anomaly syndrome with variable phenotype principally characterized by developmental delay, growth retardation/short stature, hypotonia, seizures, venriculomegaly, hand and foot anomalies (e.g. clinodactyly, overlapping toes) and mosaic pigmentary skin changes. Patients may also present minor dysmorphic craniofacial features (incl. macrocephaly, upslanting palpebral fissures, hypertelorism, abnormal auricles, anteverted nasal tip, midface hypoplasia)." "" + "tetrasomy 9p" "Tetrasomy 9p is a rare autosomal anomaly characterized by pre- and postnatal growth retardation, psychomotor delay, mild to moderate intellectual disability, hypotonia, microcephaly, dysmorphic features (ocular hypertelorism, low-set, malformed ears, bulbous/beaked nose, microretrognathia, enophthalmos/micropthalmia, epicanthus, strabismus), cleft lip/palate, skeletal abnormalities (hypoplastic nails/distal phalanges, short stature, short neck, contractures), congenital heart defects, renal and urogenital malformations (renal hypoplasia, genital hypoplasia, cryptorchidism)." "" + "granulomatous slack skin disease" "Granulomatous slack skin (GSS) is a variant of mycosis fungoides (MF), a form of cutaneous T-cell lymphoma, and is characterized by the presence of circumscribed areas of pendulous lax skin." "" + "obsolete constitutional neutropenia with extra-hematopoietic manifestations" "" "true" + "obsolete other immunodeficiency syndromes due to defects in innate immunity" "True" "true" + "thalidomide embryopathy" "A group of anomalies presented in infants as a result of in utero exposure (between 20-36 days after fertilization) to thalidomide, a sedative used in treatment of a range of conditions, including morning sickness, leprosy and multiple myeloma (see these terms). Thalidomine embryopathy is characterized by phocomelia, amelia, forelimb and hand plate anomalies (absence of humerus and/or forearm, femur and/or lower leg, thumb anomalies). Other anomalies include facial hemangiomas, and damages to ears (anotia, microtia), eyes (microphthalmia, anophthalmos, coloboma, strabismus), internal organs (kidney, heart, and gastrointestinal tract), genitalia, and heart. Infant mortality associated with thalidomide embryopathy is estimated to be as high as 40%. Thalidomide is contraindicated in pregnancy and pregnancy prevention is recommended in women under treatment." "" + "obsolete immunodeficiency with isotype or light chain deficiencies with normal number of B-cells" "" "true" + "selective IgM deficiency" "Selective IgM deficiency (SIgMD) is a rare immune disorder that has been reported in association with serious infections, such as bacteria in the blood (bacteremia, also known as septicemia). Although SIgMD was first described in two children, the disorder can occur in babies, children, and adults. It is characterized by isolated absence or deficiency of immunoglobulin M (IgM), normal levels of other immunoglobulins, and recurrent infections (especially by Staphylococcus aureus, Streptococcus pneumoniae, Hemophilus influenza). The cause is still unclear. The diagnosis includes isolated deficiency ofIgM in the blood and no other immunodeficiency or secondary cause of low IgM. Patients with SIgMD and recurrent infections are managed like other antibody defects and deficiencies. It is suggested that people with SIgMD have pneumococcal and meningococcal vaccines, people with SIgMD who have recurrent infections should have prophylactic antibiotics and immune globulin replacement." "" + "obsolete other immunodeficiency syndrome with predominantly antibody defects" "True" "true" + "Thomas syndrome" "Thomas syndrome is characterised by renal anomalies, cardiac malformations and cleft lip or palate. It has been described in six patients. Transmission was suggested to be autosomal recessive." "" + "Hoyeraal-Hreidarsson syndrome" "Hoyeraal-Hreidarsson syndrome (HHS) is a very rare X-linked recessive disorder considered to be a severe variant of dyskeratosis congenita characterized by intrauterine growth retardation, microcephaly, cerebellar hypoplasia, progressive combined immune deficiency and aplastic anemia." "" + "thrombocytopenia-robin sequence syndrome" "" + "familial thrombomodulin anomalies" "" + "heparin-induced thrombocytopenia" "Heparin-induced thrombocytopenia (HIT) is a drug-induced, immune-mediated prothrombotic disorder associated with thrombocytopenia and venous and/or arterial thrombosis." "" + "obsolete Kaposi sarcoma" "" "true" + "Jessner lymphocytic infiltration of the skin" "Jessner lymphocytic infiltration of the skin (JLIS) is a chronic benign cutaneous disease characterized by asymptomatic non-scaly erythematous papules or plaques on the face and neck." "" + "hypoplastic tibiae-postaxial polydactyly syndrome" "Hypoplastic tibia-polydactyly syndrome is a very rare congenital malformation syndrome characterized by bilateral hypoplasia of the tibia with polydactyly of the feet and hands." "" + "male infertility due to sperm disorder" "True" + "pediatric hepatocellular carcinoma" "Pediatric hepatocellular carcinoma (pediatric HCC) is a rare, aggressive, malignant hepatic tumor that develops mainly in children over 10 years of age." "" + "bullous lichen planus" "Bullous lichen planus is a variant of rare lichen planus characterized by the development of vesico-bullous lesions." "" + "obsolete toxocariasis" "" "true" + "tracheal agenesis" "Tracheal agenesis (TA) is a rare congenital malformation in which the trachea may be completely absent (agenesis), or partially in place but underdeveloped (atresia). In both cases, proximal-distal communication between the larynx and the alveoli of the lungs is lacking." "" + "meningococcal meningitis" "An acute bacterial disease caused by Neisseria meningitides that presents usually, but not always, with a rash (non blanching petechial or purpuric rash), progressively developing signs of meningitis (fever, vomiting, headache, photophobia, and neck stiffness) and later leading to confusion, delirium and drowsiness. Neck stiffness and photophobia are often absent in infants and young children who may manifest nonspecific signs such as irritability, inconsolable crying, poor feeding, and a bulging fontanel. Meningococcal meningitis may also present as part of early or late onset sepsis in neonates. The disease is potentially fatal. Surviving patients may develop neurological sequelae that include sensorineural hearing loss, seizures, spasticity, attention deficits and intellectual disability." "" + "trichodermodysplasia-dental alterations syndrome" "Trichodermodysplasia-dental alterations syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by sparse, thin, brittle scalp hair, as well as sparse eyebrows, eyelashes, axillary and pubic hair, delayed eruption of deciduous teeth and hypodontia of both dentitions. Mild palmoplantar keratosis, cafC)-au-lait spots on back, mild dystrophy of nails, and tibial deflection of toes are also associated. There have been no further descriptions in the literature since 1986." "" + "autosomal dominant trichoodontoonychodysplasia-syndactyly" "" + "nodular non-suppurative panniculitis" "Nodular non-suppurative panniculitis, known as Weber-Christian disease (WCD), is a rare skin disorder characterized by recurring inflammation in the subcutaneous layer of fat." "" + "trigonocephaly-broad thumbs syndrome" "Trigonocephaly-broad thumbs syndrome is characterized by neonatal trigonocephaly and multiple anomalies including craniosynostosis, shallow orbits, unusual nose, deviation of the terminal phalanges of fingers 1, 2, and 5, and broad toes with duplication of the terminal phalanx. It has been described in a mother and her son. It is transmitted as an autosomal dominant trait." "" + "trisomy X" "Trisomy X is a sex chromosome anomaly with a variable phenotype caused by the presence of an extra X chromosome in females (47,XXX instead of 46,XX)." "" + "triploidy" "Triploidy is a chromosome abnormality that occurs when there is an extra set of chromosomes present in each cell. Most pregnancies affected by triploidy are lost through early miscarriage. However, reports exist of some affected babies living up to five months. Those that survive are often mosaic. The signs and symptoms associated with triploidy vary but may include a variety of birth defects and an unusually small size. This condition does not run in families and is not associated with maternal or paternal age. Treatment is based on the signs and symptoms present in each person." "" + "trisomy 13" "Trisomy 13 is a chromosomal anomaly caused by the presence of an extra chromosome 13 and is characterized by brain malformations (holoprosencephaly), facial dysmorphism, ocular anomalies, postaxial polydactyly, visceral malformations (cardiopathy) and severe psychomotor retardation." "" + "distal trisomy 17q" "Distal trisomy 17q is a rare chromosomal anomaly syndrome with variable phenotype principally characterized by intellectual disability, developmental delay, short stature, craniofacial dysmorphism (incl. microcephaly, low posterior hairline, frontal bossing, bitemporal narrowing, low-set and malformed ears, flat nasal bridge, long philtrum, wide mouth with downturned corners, thin upper lip) and a short, webbed neck, as well as skeletal anomalies (e.g. brachyrhizomelia, poly-/syndactyly) and joint hyperlaxity. Cardiac, cerebral, and urogenital anomalies are also frequently associated." "" + "familial multiple fibrofolliculoma" "Familial multiple fibrofolliculoma is a genodermatosis characterised by the presence of multiple hamartomas of the hair follicle. It has been described in one family so far." "" + "trisomy 18" "Trisomy 18 is a chromosomal abnormality associated with the presence of an extra chromosome 18 and characterized by growth delay, dolichocephaly, a characteristic facies, limb anomalies and visceral malformations." "" + "persistent truncus arteriosus" "A rare congenital cardiovascular disorder characterized by the failure of the embryologic structure truncus arteriosus to divide into the aorta and pulmonary trunk. It results in the presence of a single vessel instead of two vessels leading out of the heart. Clinical signs and symptoms include cyanosis that is present at birth, poor growth, dyspnea, tachypnea, arrhythmia, cardiomegaly, and heart failure. If it is not surgically repaired, it leads to death." "" + "" "true" + "obsolete American trypanosomiasis" "" "true" + "pulmonary non-tuberculous mycobacterial infection" "" + "malignant soft tissue neoplasm" "A malignant neoplasm arising exclusively from the soft tissues." "" + "obsolete rare germ cell tumor" "Rare germ cell tumor." "True" "true" + "hemorrhagic fever-renal syndrome" "Hemorrhagic fever with renal syndrome (HFRS) is a rodent-borne potentially severe hemorrhagic disease caused by Old World Hantaviruses characterized by high fever, malaise, headache, myalgia, arthralgia, backache, abdominal pain, oliguria/renal failure and systemic hemorrhagic manifestations." "" + "aorto-ventricular tunnel" "Aorto-ventricular tunnel is a congenital, extracardiac channel which connects the ascending aorta above the sinotubular junction to the cavity of the left, or (less commonly) right ventricle." "" + "transient tyrosinemia of the newborn" "Transient tyrosinemia of the newborn is a benign disorder of tyrosine metabolism detected upon newborn screening and often observed in premature infants. It shows no clinical symptoms. It is characterized by tyrosinemia, moderate hyperphenylalaninemia, and tyrosiluria that usually resolve after 2 months of age." "" + "Uhl anomaly" "Uhl anomaly is characterized by an almost complete absence of the myocardium in the right ventricle resulting in a thin walled nonfunctional right ventricle manifesting with cardiac arrhythmias and right ventricular failure. Cases of partial absence of right ventricular myocardium which remains asymptomatic or mildly symptomatic until adulthood have also been reported. Patients presenting with complete Uhl anomaly should be considered for cardiac transplantation." "" + "umbilical cord ulceration-intestinal atresia syndrome" "Umbilical cord ulceration-intestinal atresia syndrome is characterised by congenital intestinal atresia, umbilical cord ulceration and severe intrauterine haemorrhage." "" + "ulerythema ophryogenesis" "Ulerythema ophryogenesis is characterised by inflammatory keratotic papules occurring on the face, which may be followed by scars, atrophy and alopecia. Prevalence is unknown but the disease, affecting mainly children and young adults, is rare. Erythema with mild hyperkeratosis of the hair follicles resulting in rough papules is observed on the cheeks and lateral aspects of the eyebrows. The disorder occasionally extends to the adjacent scalp, ears and forehead and rarely to the extensor surfaces of the limbs. Symptoms regress with age, although loss of the lateral aspects of the eyebrows can occur. Many cases occur sporadically; autosomal dominant inheritance has also been reported. There is no particular treatment, but patients should avoid sun exposure without UV protection." "" + "hemorrhagic fever" "An infectious disease caused by certain viruses or bacteria that can damage the walls of tiny blood vessels, making them leak, and can hamper the blood's ability to clot and cause severe, life-threatening illness." "" + "double outlet right ventricle" "Double outlet right ventricle (DORV) is a rare cono-truncal anomaly in which both the aorta and pulmonary artery originate, either entirely or predominantly, from the morphologic right ventricle." "" + "double outlet left ventricle" "Double-outlet left ventricle (DOLV) is an extremely rare congenital cardiac malformation in which both the aorta and the pulmonary artery arise, either exclusively or predominantly, from the morphologic left ventricle." "" + "microcephaly-brachydactyly-kyphoscoliosis syndrome" "Microcephaly-brachydactyly-kyphoscoliosis syndrome is characterized by profound intellectual deficit in association with microcephaly, short stature, brachydactyly type D, a flattened occiput, downslanting palpebral fissures, low-set large ears, a broad prominent nose and kyphoscoliosis. It has been described in three sisters. The disorder is likely to be transmitted as an autosomal recessive trait." "" + "Vogt-Koyanagi-Harada disease" "A bilateral, chronic, diffuse granulomatous panuveitis typically characterized by serous retinal detachment and frequently associated with neurological (meningitis), auditory, and dermatological alterations." "" + "Weaver-Williams syndrome" "Weaver-Williams syndrome is a multiple congenital anomalies syndrome characterized by moderate-to-severe intellectual disability, decreased muscle mass, microcephaly, facial dysmorphism (prominent ears, midfacial hypoplasia, small mouth and cleft palate), clinodactyly of the fingers, delayed osseous maturation and generalized bone hypoplasia. The syndrome has been described in a brother and sister and an autosomal recessive mode of inheritance has been suggested. There have been no further descriptions in the literature since 1977." "" + "autosomal dominant limb-girdle muscular dystrophy type 1E (DES)" "Autosomal dominant limb-girdle muscular dystrophy type 1E (LGMD1E) is a subtype of autosomal dominant limb-girdle muscular dystrophy characterized by an adult onset of progressive cardiac conduction defects that begin with cardiac dysrhythmia. Congestive heart failure and symptoms of progressive muscle weakness (present in a proximal distribution) tend to occur later. Affected patients may present only the cardiac features of the disease. Additional features include exertional dyspnea, calf hypertrophy, elevated creatine kinase serum levels and muscle cytoplasmic inclusions." "" + "obsolete Whipple disease" "" "true" + "Quinquaud's folliculitis decalvans" "Folliculitis decalvans is a rare chronic inflammatory cicatricial alopecia of the scalp occurring in middle-aged adults and characterized by the development of alopecic patches with slowly centrifugal spread predominantly in the vertex and occipital area of the scalp, associated with perifollicular erythema, follicular pustules and hemorrhagic crusts." "" + "multicentric osteolysis-nodulosis-arthropathy spectrum" "Multicentric osteolysis-nodulosis-arthropathy (MONA) spectrum is a rare genetic chronic skeletal disorder characterized by peripheral osteolysis (especially carpal and tarsal bones), interphalangeal joint erosions, subcutaneous fibrocollagenous nodules, facial dysmorphism, and a wide range of associated manifestations." "" + "idiopathic recurrent and disabling cutaneous herpes" "" + "idiopathic disseminated cytomegalovirus infection" "" + "fulminant viral hepatitis" "Fulminant viral hepatitis is a rapid and severe impairment of liver functions (acute liver failure) with hepatic encephalopathy developing less than 8 weeks after the onset of jaundice, secondary to viral hepatitis mainly due to HBV, but also to HAV." "" + "lethal idiopathic viral infection" "" + "idiopathic severe pneumococcemia" "" + "epidermal nevus syndrome" "A syndrome characterized by lesions occurring on the face, scalp, or neck which consist of congenital hypoplastic malformations of cutaneous structures and which over time undergo verrucous hyperplasia. Additionally it is associated with neurological symptoms and skeletal, ophthalmological, urogenital, and cardiovascular abnormalities." "" + "disorder of phospholipids, sphingolipids and fatty acids biosynthesis" "" + "digital anomalies-intellectual disability-short stature syndrome" "" + "intellectual disability-obesity-brain malformations-facial dysmorphism syndrome" "Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome is a rare, syndromic intellectual disability primarily characterized by moderate to severe intellectual disability, true-to-relative microcephaly and brain abnormalities including a thin corpus callosum, cerebellar hypoplasia, cerebral white matter hypoplasia and multi-focal hyperintensity of cerebral white matter on MRI. Obesity and distinctive craniofacial dysmorphism (including brachycephaly, round face, straight eyebrows, synophrys, hypertelorism, epicanthus, wide and depressed nasal bridge, protruding ears with uplifted lobe, downslanting corners of the mouth) are additional features." "" + "Oncogenic osteomalacia" "Oncogenic osteomalacia is characterized by the development of a tumor that causes the bones to be weakened. This occurs when a tumor secretes a substance called fibroblast growth factor 23 (FGF23). FGF23 inhibits the ability of the kidneys to absorb phosphate. Phosphate is important for keeping bones strong and healthy. Therefore, this disease is characterized by a softening and weakening of the bones (osteomalacia). The disease also results in multiple biochemical abnormalities including high levels of phosphate in the urine (hyperphosphaturia) and low levels of phosphate in the blood (hypophosphatemia). The majority of tumors that cause oncogenic osteomalacia are small and slow-growing. These tumors most commonly occur in the skin, muscles, or bones of the extremities or in the paranasal sinuses around the head. Most of these tumors are benign, meaning they are not associated with cancer. The exact reason that the tumors associated with oncogenic osteomalacia develop is not known. The disease is diagnosed when a person experiences clinical features such as bone weakening and hyperphosphaturia and a tumor is found by imaging of the body. Treatment of the disease consists of surgical removal of the tumor. The symptoms of the disease, including the weakening of the bones, typically resolve once the tumor is removed." "" + "focal epilepsy-intellectual disability-cerebro-cerebellar malformation" "Focal epilepsy-intellectual disability-cerebro-cerebellar malformation is a rare, genetic neurological disorder characterized by early infantile-onset of seizures, borderline to moderate intellectual disability, cerebellar features including dysarthria and ataxia and cerebellar atrophy and cortical thickening observed on MRI imaging. Seizures are typically focal (with prominent eye blinking, facial and limb jerking), precipitated by fever and often commence with an oral sensory aura (anesthetized tongue sensation). When not properly controlled by anti-epileptic medication, weekly frequency and persistance into adult life is observed." "" + "progressive myoclonic epilepsy with dystonia" "A rare, genetic epilepsy syndrome characterized by neonatal or early infantile onset of severe, progressive, typically frequent and prolonged myoclonic seizures that are refractory to treatment, associated with localized and/or generalized paroxysmal dystonia (which later becomes persistent). Other features include severe hypotonia, hemiplegia, psychomotor regression (or lack of psychomotor development) and progressive cerebral and cerebellar atrophy, with affected individuals becoming progressively non-reactive to environmental stimuli." "" + "16q24.1 microdeletion syndrome" "16q24.1 microdeletion syndrome is a partial autosomal monosomy characterized clinically by lethal pulmonary disease that presents as severe respiratory distress and refractory pulmonary hypertension within a few hours after birth and typically results in death from respiratory failure within the first months of life. Characteristic histological features of lung tissue include paucity of alveolar wall capillaries, alveolar wall thickening, muscular hypertrophy of the pulmonary arteries, and malposition of the small pulmonary veins. Various additional congenital malformations may be associated, mostly gastrointestinal (intestinal malrotation and atresias, anular pancreas), genitourinary (dilatation of urinary tracts, duplicated uterus) and cardiovascular anomalies (hypoplastic left heart and other congenital heart defects)." "" + "phalangeal microgeodic syndrome" "Phalangeal microgeodic syndrome is a rare primary osteolysis characterized by multiple small osteolytic areas and sclerosis in the phalanges of one or both hands associated with swelling and redness of the phalanges. Condition is benign, self-limited and may be associated with cold exposure." "" + "autosomal recessive cerebellar ataxia with late-onset spasticity" "Autosomal recessive cerebellar ataxia with late-onset spasticity is a rare, genetic neurodegenerative disease characterized by childhood or adolescent-onset of cerebellar ataxia with dysarthria which slowly progresses and associates pyramidal signs, including lower limb spasticity, brisk reflexes, and Babinski and Hoffman signs. Patients typically present cerebellar ataxia with development of increasing asymmetric spasticity in upper and lower limbs, and variable axonal sensory or sensorimotor neuropathy. Additional heterogeneous features, including pes cavus, scoliolis, and abnormalities of the brain (e.g. cerebral atrophy), may also be associated." "" + "brain dopamine-serotonin vesicular transport disease" "Brain dopamine-serotonin vesicular transport disease is a newly discovered infantile-onset neurometabolic disease characterized by dystonia, parkinsonism, nonambulation, autonomic dysfunction, developmental delay and mood disturbances." "" + "neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to 9q21 microdeletion" "" + "attenuated Chédiak-Higashi syndrome" "Attenuated Chédiak-Higashi syndrome (CHS) is a very rare and atypical form of CHS, a genetic disorder characterized by partial oculocutaneous albinism (OCA), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder." "" + "minimal pigment oculocutaneous albinism type 1" "Type 1 minimal pigment oculocutaneous albinism (OCA1-MP) is an extremely rare form of OCA1 with minimal pigment present, characterized by blond hair, variable iris transillumination, visual acuity ranging from 20/80-20/200 and white skin, with or without skin nevi." "" + "temperature-sensitive oculocutaneous albinism type 1" "Type 1 temperature sensitive oculocutaneous albinism (OCA1-TS) is an extremely rare form of OCA1 characterized by the production of temperature sensitive tyrosinase proteins leading to dark hair on the legs, arms and chest (cooler body areas) and white hair on the scalp, axilla and pubic area (warmer body areas)." "" + "ocular albinism with congenital sensorineural hearing loss" "" + "obsolete scleredema" "" "true" + "obsolete burning mouth syndrome" "" "true" + "pyruvate carboxylase deficiency, infantile form" "Infantile pyruvate carboxylase (PC) deficiency (Type A) is a rare, severe form of PC deficiency characterized by infantile-onset, mild to moderate lactic acidemia, and a generally severe course." "" + "pyruvate carboxylase deficiency, severe neonatal type" "Severe neonatal pyruvate carboxylase (PC) deficiency (Type B) is a rare, extremely severe form of PC deficiency characterized by severe, early-onset metabolic acidosis, and a generally fatal outcome in early infancy." "" + "pyruvate carboxylase deficiency, benign type" "Benign pyruvate carboxylase (PC) deficiency (Type C) is a rare, very mild form of PC deficiency characterized by episodic metabolic acidosis and normal or mildly delayed neurological development." "" + "congenital retinal arteriovenous communication" "" + "idiopathic macular telangiectasia type 1" "Idiopathic macular telangiectasia type 1 is a rare, acquired, eye disease characterized by unilateral (rarely bilateral) abnormally dilated and tortuous capillaries around the fovea, associated with multiple arteriolar and venular aneurysms, lipid depositions, and intra-retinal cystoid degeneration. It leads to vision loss due to macular edema with hard exudates." "" + "idiopathic macular telangiectasia type 3" "Idiopathic macular telangiectasia type 3 is a rare, acquired, eye disease characterized by progressive visual loss, due to bilateral juxtafoveolar capillary occlusions, capillary telangiectasia, and minimal exudation. It is associated with systemic or cerebral vascular occlusive disease." "" + "vasoproliferative tumor of retina" "Vasoproliferative tumor of the retina is a rare, benign, retinal vascular disease characterized by solitary or multiple, unilateral or bilateral, intra-retinal tumor(s), usually located in the peripheral infero-temporal quadrant, and often associated with sub- and intraretinal exudates, epiretinal membranes, exudative retinal detachment and cystoid macular edema, as well as, occasionally, retinal and vitreous hemorrhage. Patients may present with visual loss, floaters, and/or photopsia. Association with various conditions, such as retinitis pigmentosa, congenital retinal toxoplasmosis, retinopathy of prematurity, or coloboma, has been reported." "" + "serpiginous choroiditis" "Serpiginous choroiditis is a rare inflammatory eye condition that typicallydevelops betweenage 30 and 70 years. Affected individuals have lesions in the eye thatlast from weeks to months and involve scarringof the eye tissue.Recurrence of these lesionsis common in serpiginous choroiditis. Vision loss may occurin one or both eyeswhen the macula is involved. Treatment options involve anti-inflammatory and immune-suppressing medications." "" + "Erdheim-Chester disease" "Erdheim-Chester disease (ECD), a non-Langerhans form of histiocytosis, is a multisystemic disease characterized by various manifestations such as skeletal involvement with bone pain, exophthalmos, diabetes insipidus, renal impairment and central nervous system (CNS) and/or cardiovascular involvement." "" + "3q26q27 microdeletion syndrome" "" + "atypical hemolytic-uremic syndrome with DGKE deficiency" "" + "hereditary retinoblastoma" "An inherited malignant tumor that originates in the nuclear layer of the retina. A predisposition to retinoblastoma has been associated with 13q14 cytogenetic abnormalities. Patients with the inherited form appear to be at increased risk for secondary nonocular malignancies such as osteosarcoma, malignant fibrous histiocytoma, and fibrosarcoma." "" + "non-hereditary retinoblastoma" "" + "arterial thoracic outlet syndrome" "Arterial thoracic outlet syndrome (ATOS) is a form of thoracic outlet syndrome (TOS) that presents as unilateral upper extremity ischemia." "" + "venous thoracic outlet syndrome" "Venous thoracic outlet syndrome (VTOS) is a form of thoracic outlet syndrome (TOS) that manifests as unilateral (rarely bilateral) arm pain and cyanosis." "" + "oral submucous fibrosis" "Oral submucous fibrosis (OSMF) is a chronic, progressive disease that alters the fibroelasticity of the oral submucosa, prevalent in India and Southeast Asia but rare elsewhere, and characterized by burning and pain in the oral cavity, loss of gustatory sensation, the presence of blanched fibrous bands and stiffening of the oral mucosa and oro-pharynx (leading to trismus and a progressive reduction in mouth opening) and an increased risk of developing oral squamous cell cancer (3-19%). It is usually associated with the chewing of the areca nut (an ingredient in betel quid) but the exact etiology is unknown and there is currently no effective treatment." "" + "primary essential cutis verticis gyrata" "Primary essential cutis verticis gyrata is a rare, progressive dermis disorder characterized by thickening of the scalp resulting in redundancy of the skin which gives rise to folds and grooves that give the scalp a cerebriform appearance. Folds cannot be corrected by pressure or traction and typically are symmetric and extend anteroposteriorly from vertex to occiput and/or transversely in occipital region. Additional features may include mild subungual hyperkeratosis and distal onycholysis of the nail plates of the great toes. It is not associated with neurological and ophthalmological changes, nor with secondary causes." "" + "primary cutis verticis gyrata" "Cutis verticis gyrata (CVG) is a progressive cutaneous disorder predominantly affecting males and characterized by hypertrophy and thickening of the skin of the scalp forming convoluted furrows with deep, tender, and cerebriform cutaneous folds. Hair is usually normal in the furrows and sparse on the folds. CG can be isolated (essential CVG) or associated with other abnormalities such as intellectual deficit, epilepsy, cataract, blindness, and deafness (non essential CVG)." "" + "primary non-essential cutis verticis gyrata" "" + "morning glory syndrome" "Morning glory syndrome (MGS) is an optic neuropathy characterized by a congenital funnel shaped excavation of the posterior fundus that incorporates the optic disc malformation (resembling the morning glory flower) MGS is usually unilateral and may result in a decrease in best-corrected visual acuity (BCVA). MGS either occurs isolated or associated to other ocular or non-ocular anomalies." "" + "idiopathic nephrotic syndrome" "Nephrotic syndrome for which no cause has been identified." "" + "malignant sex cord stromal tumor of ovary" "Malignant sex cord stromal tumor (SCST) of ovary is a rare ovarian cancer arising from granulosa, theca, sertoli and leydig cells or stromal fibroblasts, occurring at any age and presenting with abdominal or pelvic mass, and characterized (with the exception of fibroma) by the production of sex steroids resulting in manifestations of hormone excess, with a relatively favorable prognosis." "" + "ovarian sex cord-stromal tumor" "A benign or malignant neoplasm that arises from the ovary and is composed of granulosa cells, Sertoli cells, Leydig cells, theca cells, and fibroblasts. Representative examples include thecoma, fibroma, Sertoli cell tumor, and granulosa cell tumor." "" + "acute opioid poisoning" "Acute opioid poisoning is a rare intoxication with opioids, a large group of alkaloid analgesics, mainly characterized by miosis (pinpoint pupil), respiratory depression (bradypnea/apnea) and central nervous system depression (sedation or coma). Other manifestations include hypotension, reduced bowel motility, hypothermia and hypoglycemia. Naloxone, a competitive inhibitor of the mu-opioid receptor, is a potent antagonist and is used as the antidote for opioid intoxication." "" + "obsolete polymicrogyria" "" "true" + "tumor grade 4, general grading system" "A morphologic qualifier indicating that a cancerous lesion is undifferentiated." "" + "obsolete bacterial toxic-shock syndrome" "" "true" + "staphylococcal scarlet fever" "" + "staphylococcal scalded skin syndrome" "A blistering skin disorder caused by exfoliative toxins produced by Staphylococcus aureus infection. The toxins cause the formation of bullae and diffuse skin desquamation. The lesions may be localized or generalized, far away from the initial site of infection." "" + "bullous impetigo" "Bullous impetigo is a contagious superficial infection occurring in intact skin. Prevalence in the general population is unknown. The disease is characterized by fragile vesicles and flaccid blisters, most often presenting as erosive lesions covered by a yellow crust. The face, trunk and extremities of children under 5 years of age (particularly neonates) are mainly affected. The disease is generally caused by group II Staphylococcus aureus." "" + "staphylococcal necrotizing pneumonia" "Staphylococcal necrotizing pneumonia is a rare, bacterial, pulmonary infectious disease, caused by a Panton-Valentine leukocidin-producing Staphylococcus aureus strain, characterized by severe respiratory failure, extensive, rapidly progressing pneumonia and hemorrhagic lung necrosis. Patients typically present with influenza-like symptoms, such as fever, cough, and chest pain, as well as hemoptysis, hypotension, leukopenia, and severe respiratory symptoms that rapidly evolve to acute respiratory distress syndrome and septic shock. High mortality is associated." "" + "gastric linitis plastica" "Gastric linitis plastica (gastric LP) is a malignant, diffuse, infiltrative gastric adenocarcinoma." "" + "paratesticular adenocarcinoma" "" + "testicular teratoma" "" + "obsolete sex cord-stromal tumor of testis" "" "true" + "obsolete non-seminomatous germ cell tumor of testis" "" "true" + "obsolete germ cell tumor of testis" "" "true" + "mitochondrial DNA depletion syndrome, hepatocerebrorenal form" "" + "acute encephalopathy with biphasic seizures and late reduced diffusion" "Acute encephalopathy with biphasic seizures and late reduced diffusion (AESD) is a rare childhood-onset epilepsy syndrome associated with infection and characterized by a biphasic clinical course. The initial symptom is a prolonged febrile seizure on day 1 (the first phase). Afterwards, patients have variable levels of consciousness from normal to coma. Irrespective of the consciousness levels, magnetic resonance imaging (MRI) during the first 2 days shows no abnormality. During the second phase (usually days 4 - 6), patients show a cluster of seizures and deterioration of consciousness. Diffusion-weighted images (DWI) on MRI reveal the brain lesions with reduced diffusion predominantly in the subcortical white matter. After the second acute phase, consciousness levels improve with the emerging focal neurological signs. Neurological outcomes of AESD vary from normal to mild or severe sequelae including cerebral atrophy, mental retardation, paralysis and epilepsy." "" + "new-onset refractory status epilepticus" "New-onset refractory status epilepticus is an acute encephalopathy with inflammation-mediated status epilepticus characterized by an acute refractory status epilepticus, typically of the tonic-clonic type, following prodromal symptoms of confusion, fever, fatigue, headache, symptoms of gastrointestinal or upper respiratory tract infection, behavioral changes or hallucinations. Brain MRI abnormalities and abnormal findings in CSF, including pleocytosis and/or elevated protein levels, are frequently found during acute episode. Treatment-resistant epilepsy, cognitive and psychiatric impairments are usual consequences." "" + "obsolete acute encephalopathy with inflammation-mediated status epilepticus" "" "true" + "LMNA-related cardiocutaneous progeria syndrome" "A rare, genetic, premature aging syndrome characterized by adulthood-onset cutaneous manifestations that result in a prematurely aged appearance (i.e. premature thinning and graying of scalp hair, loss of subcutaneous fat, tightening of skin) associated with prominent cardiovascular manifestations, such as accelerated atherosclerosis, calcific valve disease, and cardiomyopathy. Patients present loss of eyebrows and eyelashes in childhood and have a predisposition to develop malignancies." "" + "20q11.2 microduplication syndrome" "20q11.2 microduplication syndrome is a rare chromosomal anomaly syndrome, due to partial duplication of the long arm of chromosome 20, characterized by psychomotor and developmental delay, moderate intellectual disability, metopic ridging/trigonocephaly, short hands and/or feet and distinctive facial features (epicanthus, hypoplastic supraorbital ridges, horizontal/downslanting palpebral fissures, small nose with depressed nasal bridge and anteverted nostrils, prominent cheeks, retrognathia and small, thick ears). Growth delay and cryptororchidism are often associated features." "" + "distal monosomy 1q" "1qter deletion syndrome is a chromosomal anomaly characterized by an intellectual deficiency, progressive microcephaly, seizures, growth delay, distinct facial dysmorphic features and various midline defects including cardiac, corpus callosum, gastro-oesophalgeal and urogenital anomalies." "" + "chromosome 1q deletion" "Chromosome 1q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on thelong arm (q) of chromosome 1. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 1q deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person." "" + "childhood-onset autosomal recessive myopathy with external ophthalmoplegia" "" + "2p13.2 microdeletion syndrome" "2p13.2 microdeletion syndrome is a rare partial autosomal monosomy characterized by global development delay, intellectual disability, behavioral abnormalities (hyperactivity, attention deficit and autistic behaviors), brachycephaly and variable facial dysmorphism. Other associated features may include vertebral fusions, mild contractures of knees and elbows, and feeding difficulties during infancy." "" + "neurofibromatosis type 1 due to NF1 mutation or intragenic deletion" "" + "Alexander disease type I" "Alexander disease type I (AxD type I) is an astrogliopathy and the most severe and common form of Alexander disease (AxD), presenting before the age of 4 and characterized by seizures, megalencephaly and developmental delay with progressive deterioration." "" + "Alexander disease type II" "Alexander disease type II (AxD type II) is an astrogliopathy and a form of Alexander disease (AxD) characterized by ataxia, bulbar symptoms, spastic paraparesis, palatal myoclonus, and autonomic symptoms." "" + "Balint syndrome" "Balint syndrome is a rare neurologic disease characterized by the triad of optic ataxia, ocular apraxia and simultanagnosia due to posterior parietal lobe lesions. Patients report ophthalmologic difficulties in the absence of underlying ophthalomologic anomalies and present severe visual and spatial disabilities in locating and reaching objects, initiating voluntary eye movements and perceiving more than one object at a time." "" + "familial cervical artery dissection" "An instance of cervical artery dissection that is caused by an inherited modification of the individual's genome." "" + "17q21.31 microdeletion syndrome" "" + "Koolen-de Vries syndrome due to a point mutation" "" + "autosomal recessive cerebral atrophy" "" + "" "true" + "" "true" + "immune hydrops fetalis" "Immune hydrops fetalis (IHF), a form of HF, describes the excessive accumulation of fetal fluid within the fetal extravascular compartments and body cavities due to maternal rhesus (Rh) incompatibility." "" + "systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood" "Systemic Epstein-Barr virus (EBV)-positive T-cell lymphoproliferative disease of childhood is a rare and very aggressive neoplastic disease emerging after a primary acute or chronic active EBV infection. It presents with persisting fever and malaise, hepatosplenomegaly with or without lymphadenopathy, liver failure, severe pancytopenia and a rapid progression towards multi-organ failure and hemophagocytic syndrome with a fatal issue. It is characterized by clonal proliferation of EBV-infected T cells with an activated cytotoxic phenotype." "" + "hydroa vacciniforme-like lymphoma" "A rare, EBV-positive cutaneous T-cell lymphoproliferative disorder, composed of CD8 positive cytotoxic T-lymphocytes. It affects children, almost exclusively in Latin America and Asia. Patients present with papulovesicular skin lesions, clinically resembling hydroa vacciniforme, in areas of sun-exposed skin." "" + "ALK-positive large B-cell lymphoma" "Anaplastic lymphoma kinase (ALK)-positive diffuse large B-cell lymphoma is a very rare variant of diffuse large B-cell lymphoma (DLBCL) mainly affecting middle-aged immunocompetent men and characterized by a consistent primary involvement of lymph nodes (mainly in the cervical and mediastinum lymph nodes) and with infrequent extra nodal involvement of the bone marrow and other extra-nodal sites (head and neck region, liver, spleen, and gastrointestinal tract). It has an aggressive disease course, and is associated with a poor prognosis." "" + "infantile epileptic-dyskinetic encephalopathy" "Infantile epileptic-dyskinetic encephalopathy is a monogenic disease with epilepsy characterized by developmental delay and infantile spasms in the first months of life, followed by chorea and generalized dystonia and progressing to quadriplegic dyskinesia, recurrent status dystonicus, intractable focal epilepsy and severe intellectual disability." "" + "hypocomplementemic urticarial vasculitis" "Hypocomplementemic urticarial vasculitis (HUV) is an immune complex-mediated small vessel vasculitis characterized by urticaria and hypocomplementemia (low C1q with or without low C3 and C4), and usually associated with circulating anti-C1q autoantibodies. Arthritis, pulmonary disease, ocular inflammation, and glomerulonephritis are common systemic manifestations." "" + "bipartite talus" "Bipartite talus is a rare, genetic bone disorder characterized by the presence of two non-fused talar bone fragments, with the posterior fragment located at the level of the posterior talar process. Patients may present with foot and/or ankle pain (exercise-induced or not), repetitive ankle sprains, chronic ankle ligamentous laxity, restricted ankle motion (i.e. plantar flexion, eversion, and inversion), and mild swelling." "" + "Stevens-Johnson syndrome" "Stevens-Johnson syndrome is a limited form of toxic epidermal necrolysis characterized by destruction and detachment of the skin epithelium and mucous membranes involving less than 10% of the body surface area." "" + "toxic epidermal necrolysis" "Toxic epidermal necrolysis (TEN) is an acute and severe skin disease with clinical and histological features characterized by the destruction and detachment of the skin epithelium and mucous membranes." "" + "obsolete rare genetic bone development disorder" "True" "true" + "obsolete dysostosis with limb anomaly as a major feature" "True" "true" + "obsolete dysostosis with limb and face anomalies as a major feature" "True" "true" + "obsolete rare bone disease related to a common gene or pathway defect" "" "true" + "obesity due to SIM1 deficiency" "" + "2p21 microdeletion syndrome without cystinuria" "2p21 microdeletion syndrome without cystinuria is a rare partial autosomal monosomy characterized by weak fetal movements, severe infantile hypotonia and feeding difficulties that spontaneously improve with time, urogenital abnormalities (hypospadias or hypoplastic labia majora), global development delay, mild intellectual disability and facial dysmorphism (dolichocephaly, frontal bossing, bilateral ptosis, midface retrusion, open mouth with tented upper lip vermilion). Affected individuals have borderline elevated serum lactate but no cystinuria." "" + "CADDS" "" + "intellectual disability-seizures-macrocephaly-obesity syndrome" "Intellectual disability-seizures-macrocephaly-obesity syndrome is a rare syndromic obesity due to complex chromosomal rearrangement characterized by development delay and intellectual disability, childhood-onset obesity, seizures, poor coordination and broad-based gait, macrocephaly and mild dysmorphic features (such as narrow palpebral fissures, malar hypoplasia and thin upper lips), eczema, ocular abnormalities and a social personality." "" + "finger hyperphalangy - toe anomalies - severe pectus excavatum syndrome" "" + "diffuse palmoplantar keratoderma with painful fissures" "" + "focal palmoplantar keratoderma with joint keratoses" "" + "intellectual disability-facial dysmorphism-hand anomalies syndrome" "" + "spondyloepimetaphyseal dysplasia, Isidor type" "" + "spondylometaphyseal dysplasia, Czarny-Ratajczak type" "" + "acute myeloid leukemia with t(8;16)(p11;p13) translocation" "A distinct form of Acute myeloid leukemia (AML) in which this chromosomal anomaly is found de novo or in therapy-related AML cases, and is characterized by frequent extramedullary involvement (mainly hepatomegaly, splenomegaly, lymphadenopathies, cutaneous infiltration, but also gum, bone, central nervous system, testicles involvement), severe coagulation disorder (disseminated intravascular coagulopathy or primary fibrinolysis) and poor prognosis. Morphologically, a blast population with a myelomonocytic stage of differentiation is observed." "" + "familial syringomyelia" "An instance of syringomyelia that is caused by an inherited modification of the individual's genome." "" + "Angora hair nevus" "" + "didymosis aplasticosebacea" "" + "scalp syndrome" "" + "Nevada syndrome" "NEVADA (Nevus Epidermicus Verrucosus with AngioDysplasia and Aneurysms) syndrome is a rare, life-threatening, cutaneous disease characterized by a keratinocytic epidermal nevus presenting thick, hystrix-like, white or brownish hyperkeratosis associated with multiple extracutaneous vascular malformations, including angiodysplasia that involves large-vessel arteriovenous shunts that may be fatal during the neonatal period." "" + "fetal carbamazepine syndrome" "A drug-related embryofetopathy that can occur when an embryo/fetus is exposed to carbamazepine and that is characterized by facial dysmorphism, with some similarities to that seen in fetal valproate syndrome (see this term), such as epicanthal folds, upward slanting palpebral fissures, short nose, micrognathia and malar hypoplasia, as well as nail dysplasia and major anomalies including cleft lip/palate, neural tube defects and cardiac anomalies. In utero exposure to carbamazepine, in combination with valproate, has been associated with significant developmental delay (particularly affecting verbal intelligence) and a high rate of congenital anomalies." "" + "oculocutaneous albinism type 6" "A form of oculocutaneous albinism characterized by light hair at birth that darkens with age, white skin, transparent irides, photophobia, nystagmus, foveal hypoplasia and reduced visual acuity." "" + "obsolete rare disorder with dystonia and other neurologic or systemic manifestation" "True" "true" + "ataxia - telangiectasia variant" "Ataxia-telangiectasia variant is a rare, genetic, persistent combined dystonia characterized by clinical signs similar to ataxia-telangiectasia but with a later (usually adulthood) onset and slower progression. Patients typically present extrapyramidal signs, such as resting tremor, choreathetosis, and dystonia, as the initial symptoms and later often develop mild cerebellar ataxia (with gait usually preserved). Telangiectasia and immunodeficiency may be absent but secondary features of ataxia-telangiectasia, such as risk of malignancy, dysarthria and peripheral neuropathy, are frequently present." "" + "combined cervical dystonia" "" + "Medich giant platelet syndrome" "Medich giant platelet syndrome (MGPS) is a platelet granule disorder characterized by thrombocytopenia with giant platelets resulting in easy bleeding." "" + "white platelet syndrome" "White platelet syndrome (WPS) is is a platelet granule disorder characterized by thrombocytopenia, increased mean platelet volumes, decreased platelet responsiveness to aggregating agents, and significant defects in platelet ultrastructural morphology leading to prolonged bleeding times and bleeding." "" + "obsolete small cell carcinoma of the ovary" "A small cell carcinoma that involves the ovary." "" "true" + "XYLT1-CDG" "" + "GM3 synthase deficiency" "GM3 synthase deficiency is characterized by recurrent seizures (epilepsy) and problems with brain development. Within the first few weeks after birth, affected infants become irritable and develop feeding difficulties and vomiting that prevent them from growing and gaining weight at the usual rate. Seizures begin within the first year of life and worsen over time. Multiple types of seizures are possible, including generalized tonic-clonic seizures (also known as grand mal seizures), which cause muscle rigidity, convulsions, and loss of consciousness. Some affected children also experience prolonged episodes of seizure activity called nonconvulsive status epilepticus. The seizures associated with GM3 synthase deficiency tend to be resistant (refractory) to treatment with antiseizure medications." "" + "obsolete salt and pepper syndrome" "" "true" + "congenital muscular dystrophy with intellectual disability" "" + "muscle-eye-brain disease with bilateral multicystic leucodystrophy" "Muscle-eye-brain (MEB) disease with bilateral multicystic leucodystrophy is a form of congenital muscular alpha-dystroglycanopathy with brain and eye anomaly characterized by severe muscle-eye-brain disease-like phenotype associated with macrocephaly and extended bilateral multicystic white matter disease, overlapping with the cerebral findings in patients with megalencephalic leukoencephalopathy with subcortical cysts." "" + "congenital muscular dystrophy with hyperlaxity" "Congenital muscular dystrophy with hyperlaxity is a rare, genetic neuromuscular disease characterized by congenital hypotonia, generalized, slowly progressive muscular weakness, and proximal joint contractures with distal joint hypermobility and hyperlaxity. Scoliosis or rigidity of the spine and delayed motor milestones are also frequently reported. Other manifestations include a long myopathic face and, in rare cases, respiratory failure, mild to moderate intellectual deficiency and short stature. Ambulation may be impaired with time." "" + "obsolete X-linked congenital disorder of glycosylation with intellectual disability as a major feature" "True" "true" + "obsolete non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature" "True" "true" + "obsolete congenital disorder of glycosylation with epilepsy as a major feature" "True" "true" + "obsolete congenital disorder of glycosylation with cardiac malformation as a major feature" "True" "true" + "obsolete congenital disorder of glycosylation with nephropathy as a major feature" "True" "true" + "obsolete congenital disorder of glycosylation with deafness as a major feature" "True" "true" + "obsolete hypotonia-speech impairment-severe cognitive delay syndrome" "" "true" + "obsolete sphingolipidosis with epilepsy" "" "true" + "obsolete genetic hyperaldosteronism" "" "true" + "interstitial cystitis" "Interstitial cystitis, also known as bladder pain syndrome (IC/BPS), is a rare chronic debilitating urogenital disease characterized by urinary frequency, urgency, and pelvic pain." "" + "acquired kinky hair syndrome" "Acquired progressive kinking of the hair (APKH) is a rare hair disorder characterized by the appearance of lustreless, curly, frizzy, and coarse hair generally during adolescence predominantly in the frontal, temporal, and vertex regions of the scalp. Eyelashes, as well as growth and pigmentation of the hair, may also be affected." "" + "Schnitzler syndrome" "A rare, underdiagnosed disorder in adults characterized by recurrent febrile rash, bone and/or joint pain, enlarged lymph nodes, fatigue, a monoclonal IgM component, leukocytosis and systemic inflammatory response." "" + "liver mesenchymal hamartoma" "A multicystic, tumor-like hamartomatous lesion that arises from the liver during fetal development. Clinically, it usually presents as an abdominal mass associated with abdominal distention. Following resection, the prognosis is usually good." "" + "acromelanosis" "Acromelanosis is a congenital hyperpigmentation of the skin usually located on the acral areas of the fingers and toes. It is mostly observed in newborns or during the first years of life." "" + "obsolete uveal melanoma" "" "true" + "infantile-onset mesial temporal lobe epilepsy with severe cognitive regression" "A rare monogenic disease with infantile-onset pharmacoresistant focal seizures of mesial temporal lobe onset manifesting with unresponsiveness, hypertonia and automatisms and cognitive regression soon after seizure onset leading to severe intellectual disability with behavioral abnormalities." "" + "X-linked osteoporosis with fractures" "" + "fatal post-viral neurodegenerative disorder" "" + "growth retardation-mild developmental delay-chronic hepatitis syndrome" "" + "microcephaly, epilepsy, and diabetes syndrome 1" "" + "HSD10 disease, infantile type" "HSD10 disease, infantile type is a clinical subtype of HSD10 disease, a rare neurometabolic disorder. It is characterized by normal early development until 6-18 months of life, followed by progressive neurodegeneration manifesting with developmental regression, progressive visual and hearing troubles, seizures, epilepsy, severe cardiomyopathy, lethargy, hypotonia, poor feeding, choreoathetosis, and movement disorders. Elevated blood levels of isoleucine metabolites and their excretion in urine are reported. The disease is usually fatal around 2-4 years of age." "" + "HSD10 disease, neonatal type" "HSD10 disease, neonatal type is the most severe form of HSD10 disease, a rare neurometabolic disorder. It is characterized by onset of severe metabolic/lactic acidosis, neurological and psychomotor delay, seizures and severe progressive hypertrophic cardiomyopathy in the neonatal period. Hepatic involvement and coagulopathy are rare. The disease is fatal within the first months of life." "" + "adult-onset myasthenia gravis" "Acquired myasthenia gravis (MG) is an autoimmune disorder of the neuromuscular junction characterized by fatigable muscle weakness with frequent ocular signs and/or generalized muscle weakness, and occasionally associated with thymoma." "" + "juvenile myasthenia gravis" "Juvenile myasthenia gravis (MG) is a rare form of MG, an autoimmune disorder of the neuromuscular junction resulting in ocular manifestations or generalized weakness, with onset before 18 years of age." "" + "transient neonatal myasthenia gravis" "Transient neonatal myasthenia gravis (MG) is a rare form of MG occurring in neonates born to mothers who have the disorder or specific circulating autoantibodies." "" + "secondary neonatal autoimmune disease" "" + "obsolete rare genetic dystonia" "" "true" + "multiple acyl-CoA dehydrogenase deficiency, severe neonatal type" "" + "multiple acyl-CoA dehydrogenase deficiency, mild type" "" + "chronic hiccup" "Chronic hiccup is a rare movement disorder characterized by involuntary spasmodic contractions of the inspiratory muscles synchronized with larynx closure lasting for more than 48 hours." "" + "deep dermatophytosis" "True" + "obsolete Silver-Russell syndrome due to a point mutation" "" "true" + "PrP systemic amyloidosis" "Prion protein (PrP) systemic amyloidosis, previously known as chronic diarrhea with hereditary sensory and autonomic neuropathy is an extremely rare autosomal dominant disorder reported in three British families, a Japanese and an Italian family (about 16 cases in total). Onset is usually in the fourth decade of life and the course lasts about 20 years. Reported clinical manifestations include diarrhea, nausea, autonomic failure (areflexia, weakness), neurogenic bladder and urinary infections. The disorder is caused by truncation mutations of the prion protein gene PRNP (20p13) leading to deposition of prion protein amyloid." "" + "3q27.3 microdeletion syndrome" "3q27.3 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 3, characterized by mild to severe intellectual disability, neuropsychiatric disorders of the psychotic and dysthymic spectrum, mild distinctive facial dysmorphism (incl. slender face, deep-set eyes, high nasal bridge with a hooked nose, small, low- set ears, short philtrum, small mouth with thin upper lip, prognathism) and a marfanoid habitus." "" + "periodic paralysis with later-onset distal motor neuropathy" "" + "periodic paralysis with transient compartment-like syndrome" "" + "obsolete T+ B+ severe combined immunodeficiency" "" "true" + "ferro-cerebro-cutaneous syndrome" "" + "severe intellectual disability-progressive postnatal microcephaly- midline stereotypic hand movements syndrome" "" + "obsolete polyglucosan body myopathy type 1" "" "true" + "MAN1B1-CDG" "MAN1B1-CDG is a form of congenital disorders of N-linked glycosylation characterized by intellectual disability, delayed motor development, hypotonia and truncal obesity. Additional features include slight facial dysmorphism (hypertelorism, downslanting palpebral fissures, large, low-set ears, hypoplastic nasolabial fold, thin upper lip), hypermobility of the joints and skin laxity. The disease is caused by mutations in the gene MAN1B1 (9q34.3)." "" + "obsolete malignant tumor of penis" "" "true" + "refractory celiac disease" "Refractory celiac disease (RCD) is a complex autoimmune disorder much like the more common celiac disease but, unlike celiac disease, it is resistant or unresponsive to at least 12 months of treatment with a strict gluten-free diet. Gliadin, a component of the wheat storage protein gluten, together with similar proteins in barley and rye, are the villains that trigger the immune reaction in celiac disease. The diagnosis of RCD is made by exclusion, especially of any other disorder that can affect the huge number of thread-like projections that line the interior of the intestine (intestinal villi), such as intestinal lymphoma, Crohn's disease, small intestinal bacterial overgrowth or hypogammaglobulinemia." "" + "SIM1-related Prader-Willi-like syndrome" "" + "neonatal antiphospholipid syndrome" "" + "secondary antiphospholipid syndrome" "An antiphospholipid syndrome that occurs alongside another autoimmune disorder." "" + "neonatal autoimmune hemolytic anemia" "" + "neonatal dermatomyositis" "" + "neonatal lupus erythematosus" "A self-limited skin rash that appears in the neonatal period and usually resolves in four to six months after birth. It is caused by placental transfer of maternal autoantibodies, usually anti-Ro antibody. In a minority of cases, it is associated with congenital heart block, hepatitis, or thrombocytopenia. The mothers of the affected babies may be asymptomatic or suffer from systemic lupus erythematosus, Sjogren's syndrome, or rheumatoid arthritis." "" + "neonatal scleroderma" "" + "persistent idiopathic facial pain" "" + "obsolete mucinous adenocarcinoma of ovary" "" "true" + "obsolete clear cell adenocarcinoma of ovary" "" "true" + "primary peritoneal serous/papillary carcinoma" "" + "KLHL9-related early-onset distal myopathy" "KLHL9-related early-onset distal myopathy is a rare, genetic distal myopathy characterized by slowly progressive distal limb muscle weakness and atrophy (beginning with anterior tibial muscle involvement followed by the intrinsic hand muscles) in association with reduced sensation in a stocking-glove distribution. Patients present with high stepping gait, ankle areflexia and contractures in the first to second decade of life, associated with marked ankle extensor muscle atrophy; later proximal muscle involvement is moderate and ambulation is preserved throughout the life." "" + "nebulin-related early-onset distal myopathy" "" + "obsolete osteonecrosis" "" "true" + "traumatic avascular necrosis" "" + "secondary non-traumatic avascular necrosis" "" + "obsolete rare hereditary disease with avascular necrosis" "True" "true" + "osteonecrosis of the jaw" "An area of necrotic bone in the mandible or maxilla." "" + "idiopathic avascular necrosis" "" + "epiphysiolysis of the hip" "Epiphysiolysis of the hip is a rare osteonecrosis disorder characterized by unilateral or bilateral disruption of the capital femoral physis with varying degrees of posterior epiphysis translation and simultaneous anterior metaphysis displacement. Patients typically present in pre-adolescence/adolescence with pain of variable intensity in varying locations (hip, groin, thigh, knee)." "" + "obsolete rare male infertility due to hypothalamic-pituitary-gonadal axis disorder" "True" "true" + "obsolete rare male infertility due to adrenal disorder" "True" "true" + "obsolete rare male infertility due to testicular endocrine disorder" "True" "true" + "male infertility due to gonadal dysgenesis or sperm disorder" "True" + "male infertility with spermatogenesis disorder due to single gene mutation" "True" + "obsolete female infertility due to hypothalamic-pituitary-gonadal axis disorder" "True" "true" + "obsolete rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism" "" "true" + "obsolete rare female infertility due to an adrenal disorder" "True" "true" + "obsolete female infertility due to an anomaly of ovarian function" "True" "true" + "obsolete rare genetic male infertility" "Rare genetic male infertility." "True" "true" + "obsolete rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin" "An instance of rare male infertility due to hypothalamic-pituitary-gonadal axis disorder that is caused by a modification of the individual's genome." "True" "true" + "obsolete rare male infertility due to adrenal disorder of genetic origin" "True" "true" + "cystic echinococcosis" "" + "echinococcus granulosus infectious disease" "An disease or disorder caused by infection with Echinococcus granulosus." "" + "obsolete rare genetic female infertility" "True" "true" + "obsolete rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin" "An instance of rare female infertility due to hypothalamic-pituitary-gonadal axis disorder that is caused by a modification of the individual's genome." "True" "true" + "obsolete rare female infertility due to adrenal disorder of genetic origin" "True" "true" + "obsolete female infertility due to an anomaly of ovarian function of genetic origin" "True" "true" + "obsolete hymenolepiasis" "" "true" + "autosomal recessive spastic paraplegia type 59" "" + "autosomal recessive spastic paraplegia type 60" "" + "autosomal recessive spastic paraplegia type 66" "" + "autosomal recessive spastic paraplegia type 67" "Autosomal recessive spastic paraplegia type 67 is an extremely rare, complex hereditary spastic paraplegia characterized by an infancy or childhood onset of global developmental delay and progressive spasticity with tremor in the distal limbs, increased deep tendon reflexes and extensor plantar responses, which may be associated with mild intellectual disability. Additional features include muscle wasting and cerebellar abnormalities." "" + "autosomal recessive spastic paraplegia type 68" "" + "autosomal recessive spastic paraplegia type 69" "" + "autosomal recessive spastic paraplegia type 70" "Autosomal recessive spastic paraplegia type 70 is a very rare, complex subtype of hereditary spastic paraplegia that presents in infancy with delayed motor development (i.e. crawling, walking) and is characterized by lower limb spasticity, increased deep tendon reflexes, extensor plantar responses, impaired vibratory sensation at ankles, amyotrophy and borderline intellectual disability. Additional signs may include gait disturbances, Achilles tendon contractures, scoliosis and cerebellar abnormalities." "" + "autosomal recessive spastic paraplegia type 71" "" + "sulfur metabolism disease" "A disease that has its basis in the disruption of sulfur compound metabolic process." "" + "Huntington disease-like syndrome due to C9ORF72 expansions" "" + "AXIN2-related attenuated familial adenomatous polyposis" "" + "obsolete fibrolamellar carcinoma" "" "true" + "9q31.1q31.3 microdeletion syndrome" "" + "14q24.1q24.3 microdeletion syndrome" "" + "partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome" "Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome is a rare, hereditary, cerebral malformation with epilepsy syndrome characterized by severe global developmental delay with no ability to walk and no verbal language, intractable epilepsy, partial agenesis of the corpus callosum and cerebellar vermis hypoplasia with posterior fossa cysts." "" + "acute myeloid leukemia with t(6;9)(p23;q34)" "Acute myeloid leukemia with t(6;9)(p23;q34) is a rare subtype of acute myeloid leukemia with recurrent genetic abnormalities characterized by clonal proliferation of poorly differentiated myeloid blasts in the bone marrow, blood, or other tissues in patients who present the t(6;9)(p23;q34) translocation. Frequently associated with multilineage bone marrow dysplasia, it usually presents with anemia, thrombocytopenia (often pancytopenia), and other nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly). Basophilia, as well as poor response to chemotherapy, has been reported." "" + "acute myeloid leukemia with t(9;11)(p22;q23)" "" + "acute myeloid leukemia with inv3(p21;q26.2) or t(3;3)(p21;q26.2)" "Acute myeloid leukemia with inv(3)(q21;q26.2) or t(3;3)(q21;q26.2) is a subtype of acute myeloid leukemia with recurrent genetic abnormalities characterized by clonal proliferation of myeloid blasts in the bone marrow, blood and, rarely, other tissues. Bone marrow typically shows small, hypolobated megakaryocytes and multilineage dyslplasia. Patients typically present with leukocytosis, anemia, variable platelet counts and a variety of nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding, bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly). High resistance to conventional chemotherapy is reported." "" + "megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13)" "Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13) is a rare subtype of acute myeloid leukemia with recurrent cytogenetic abnormalities characterized by clonal proliferation of myeloid blasts with predominantly megakaryoblastic differentiation in the bone marrow and blood, often with extensive infiltration of the abdominal organs. It occurs typically in infants and usually presents with hepatosplenomegaly, anemia, thrombocytopenia and nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections). Myelofibrosis and fibrosis of other infiltrated organs is also characteristic of this disease." "" + "acute myeloid leukemia with NPM1 somatic mutations" "Acute myeloid leukemia with NPM1 somatic mutations is a subtype of acute myeloid leukemia with recurrent genetic abnormalities characterized by clonal proliferation of myeloid blasts harboring mutations of the NPM1 gene in the bone marrow, blood and other tissues. It is associated with multilineage dysplasia, involving the myeloid, monocytic, erythroid, and megakaryocytic cell lineages. Patients usually present with leukocytosis, thrombocytosis and nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain), with frequent extramedullary involvement typically presenting as gingival hyperplasia and lymphadenopathy." "" + "eosinophilic colitis" "Inflammation of the colon that is characterized by eosinic infiltration." "" + "obsolete hepatitis delta" "" "true" + "acitretin/etretinate embryopathy" "Acitretin/Etretinate embryopathy is a teratogenic disorder due to acitretin or etretinate exposure during the first trimester of pregnancy, carrying a risk of fetal malformations of approximately 20%, including central nervous system, craniofacial, ear, thymic, cardiac and limb anomalies." "" + "FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome" "" + "global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome" "" + "chondromyxoid fibroma" "An uncommon benign cartilaginous neoplasm arising from the bone. It is characterized by the presence of spindle-shaped or stellate chondrocytes, a lobulated growth pattern, myxoid stroma formation, and sometimes multinucleated giant cells. It has been associated with chromosomal rearrangement of 6q13 and 6q25 bands. The most common clinical symptom is mild, localized pain." "" + "clear cell papillary renal cell carcinoma" "Clear cell papillary renal cell carcinoma is a rare, indolent subtype of clear cell renal carcinoma, arising from epithelial cells in the renal cortex. It most frequently manifests with a well-circumscribed, well-encapsulated, unicentric, unilateral, small tumor that typically does not metastasize. Clinically it can present with flank or abdominal pain or hematuria, although most patients are usually asymptomatic at the time of diagnosis. Bilateral and/or multifocal presentation should raise the suspicion of von Hippel-Lindau syndrome." "" + "acquired cystic disease-associated renal cell carcinoma" "Acquired cystic disease-associated renal cell carcinoma is a rare subtype of renal cell carcinoma, ocurring in the context of end-stage kidney disease and acquired cystic kidney disease, characterized by a usually well circumscribed, solid, multifocal, bilateral tumor with inter- or intracellular microlumen formation (leading to cribiform architecture). Tumors are often diagnosed incidentally in early stages, although complications caused by renal cysts (dull flank or abdominal pain, fever) or renal parenchymal bleeding may mask the underlying neoplastic process. Most have an indolent behavior." "" + "spinal muscular atrophy with respiratory distress type 2" "Spinal muscular atrophy with respiratory distress type 2 is a rare, genetic, motor neuron disease characterized by progressive early respiratory failure associated with diaphragm paralysis, distal muscular weakness, joint contractures, and axial hypotonia with preserved antigravity limb movements. Phenotype overlaps considerably with SMARD type 1 but is differentiated by a mutation in a different gene." "" + "obsolete deficiency of the interleukin-36 receptor antagonist" "" "true" + "polyarticular juvenile idiopathic arthritis" "" + "Eales disease" "Eales disease (ED) is an idiopathic, inflammatory retinal venous occlusive disease characterized by 3 stages: vasculitis, occlusion and retinal neovascularization, leading to recurrent vitreous hemorrhages and vision loss." "" + "Angelman syndrome due to a point mutation" "" + "Angelman syndrome due to imprinting defect in 15q11-q13" "" + "mild phosphoribosylpyrophosphate synthetase superactivity" "Mild phosphoribosylpyrophosphate (PRPP) synthetase superactivity is the mild and late-onset form of PRPP synthetase superactivity, an X-linked disorder of purine metabolism associated with hyperuricemia and hyperuricosuria, leading to urolithiasis and gout. This form is not associated with any neuropathy or central nervous system (CNS) disorders." "" + "severe phosphoribosylpyrophosphate synthetase superactivity" "Severe phosphoribosylpyrophosphate (PRPP) synthetase superactivity is the severe and early-onset form of PRPP synthetase superactivity, an X-linked disorder of purine metabolism associated with hyperuricemia and hyperuricosuria, that is characterized by urolithiasis, gout and neurodevelopmental anomalies." "" + "insulin autoimmune syndrome" "Insulin autoimmune syndrome is a rare condition that causes low blood sugar (hypoglycemia). This occurs because the body begins to make a specific kind of protein called antibodies to attack insulin. Insulin is a naturally occurring hormone that is responsible for keeping blood sugar at a normal level. When blood sugar levels get too high, insulin helps to store the sugar for future use. People affected by insulin autoimmune syndrome have antibodies that attack insulin, causing it to work too hard and the level of blood sugar to become too low. Insulin autoimmune syndrome most often begins during adulthood." "" + "obsolete hereditary late onset Parkinson disease" "" "true" + "nephropathic infantile cystinosis" "Nephropathic infantile cystinosis is the most common and severe form of cystinosis, a metabolic disease characterized by an accumulation of cystine inside the lysosomes that causes damage in different organs and tissues, particularly in the kidneys and eyes." "" + "proton-pump inhibitor-responsive esophageal eosinophilia" "Proton-pump inhibitor-responsive esophageal eosinophilia (PPI-REE) is a rare, gastroenterologic disease characterized by typical clinical, endoscopic and histological features of eosinophilic oesophagitis (i.e. symptomatic oesophageal dysfunction associated with eosinophil-predominant mucose infiltrate) which completely remits upon proton pump inhibitor therapy." "" + "generalized eruptive keratoacanthoma" "Generalized eruptive keratoacanthoma (GEKA) is rare variant of keratoacanthoma (KA) that affects the skin and mucous membranes and which is characterized by a sudden generalized eruption of severely pruritic, hundreds to thousands of small follicular papules, often with a central keratotic plug." "" + "familial isolated trichomegaly" "Familial isolated trichomegaly is a rare genetic hair anomaly characterized by a prolonged anagen phase of the eyelash hairs, leading to extreme eyelash growth that may result in corneal irritation. Increased growth of hair on other parts of the face (eyebrows, cheeks, forehead) and/or the body (chest, arms, legs) may be associated." "" + "genetic hair anomaly" "An instance of hair anomaly that is caused by a modification of the individual's genome." "" + "hyperlipoproteinemia type 3" "Hyperlipoproteinemia (HLP) type 3 is a rare combined hyperlipidemia characterized by high levels of cholesterol and triglycerides, transported by intermediate density lipoproteins (IDLs), and a high risk of premature atherosclerosis and cardiovascular disease." "" + "13q12.3 microdeletion syndrome" "13q12.3 microdeletion syndrome is a rare chromosomal anomaly characterized by moderate intellectual disability, speech delay, postnatal microcephaly, eczema or atopic dermatitis, characteristic facial features (malar flattening, prominent nose, underdeveloped alae nasi, smooth philtrum, and thin vermillion of the upper lip), and reduced sensitivity to pain." "" + "PRKAR1B-related neurodegenerative dementia with intermediate filaments" "" + "dystonia-aphonia syndrome" "" + "obsolete primary hyperoxaluria" "" "true" + "carcinoma of esophagus, salivary gland type" "" + "undifferentiated carcinoma of esophagus" "An esophageal carcinoma characterized by the absence of microscopic features of squamous differentiation. However, there is immunohistochemical evidence of squamous differentiation." "" + "obsolete squamous cell carcinoma of stomach" "" "true" + "secondary pulmonary alveolar proteinosis" "A form of pulmonary alveolar proteinosis that arises in association with hematological disorders, medications, certain infections, acute silicosis, and immunodeficiency." "" + "semicircular canal dehiscence syndrome" "Semicircular canal dehiscence (SCD) syndrome is a rare otorhinolaryngologic disease characterized by the uni- or bilateral dehiscence of the bone(s) overlying the superior (most common), lateral or posterior semicircular canal(s). Patients present audiological (autophony, aural fullness, conductive hearing loss, pulsatile tinnitus) and/or vestibular symptoms (sound or pressure-evoked oscillopsia or vertigo, characteristic vertical-torsional eye movements), depending on which semicircular canal is affected. Posterior SCD syndrome is associated with high-riding jugular bulb and fibrous dysplasia, while lateral SCD syndrome is associated with chronic otitis media and cholesteatoma, with or without audiological and vestibular symptoms." "" + "glycogen storage disease due to acid maltase deficiency, late-onset" "Glycogen storage disease due to acid maltase deficiency, late onset (AMDL), a form of Glycogen storage disease due to acid maltase deficiency (AMD), a degenerative metabolic myopathy particularly affecting respiratory and skeletal muscles, is characterized by an accumulation of glycogen in lysosomes." "" + "visual snow syndrome" "Visual snow syndrome is described as a persistent visual problem characterized by seeing snow-like dots. Migraines are a common symptom. Many people also see drifting blobs of varying size and shape (floaters), visual effects (entopic phenomenon), glare, halos, starbursts, trails, odd colors and shapes, and may have persistent recurrence of a visual image (palinopsia) and double vision. Additional symptoms may include fatigue, tinnitus, or depersonalization and depression. Most people have normal vision tests and normal brain images. Standard migraine treatments are often not helpful. There is no cure or effective treatment to completely relieve the symptoms, but medication seems to help some people with visual snow." "" + "autosomal recessive severe congenital neutropenia due to CXCR2 deficiency" "" + "obsolete rare genetic odontal or periodontal disorder" "True" "true" + "autoimmune encephalopathy with parasomnia and obstructive sleep apnea" "Autoimmune encephalopathy with parasomnia and obstructive sleep apnea is a rare neurologic disorder characterized by a unique non-REM and REM parasomnia with sleep breathing dysfunction, gait instability and repetitive episodes of respiratory insufficiency, as well as autoantibodies against IgLON5. Patients may present stridor, chorea, limb ataxia, abnormal ocular movements, and bulbar symptoms (i.e. dysphagia, dysarthria, episodic central hypoventilation) with normal brain MRI. Excessive day sleepiness and cognitive deterioration have also been reported." "" + "cono-spondylar dysplasia" "Cono-spondylar dysplasia is a rare genetic primary bone dysplasia disorder characterized by early-onset severe lumbar kyphosis, marked brachydactyly and irregular, pronounced cone epiphyses of the metacarpals and phalanges. Additional reported features include developmental delay, intellectual disability, hypotonia, epileptic seizures and mild facial dysmorphism (incl. long and thin or square-shaped face, slight mid-face hypoplasia, hypertelorism, epicanthic folds, low-set ears, anteverted nostrils). Radiographic findings also reveal hypoplasia of iliac wings and anterior defect of vertebral bodies." "" + "microcephaly-short stature-intellectual disability-facial dysmorphism syndrome" "Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome is a rare genetic malformation syndrome with short stature characterized by postnatal microcephaly, failure to thrive and short stature, global developmental delay and intellectual disability, hypotonia, dysmorphic features (short nose, depressed nasal bridge, low set ears, short neck, clinodactyly and cutaneous syndactyly of T2-3 at birth and broad forehead, midface retrusion, epicanthal folds, laterally sparse eyebrows, short nose, long philtrum, widely spaced teeth, micrognathia and coarsening of facial features later in life). Other associated features include postnatal transient generalized edema, myopia, strabismus, hypothyroidism." "" + "X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome" "X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome is a rare genetic neurometabolic disease characterized by severe intellectual disability, spastic quadraparesis, Leber´s congenital amaurosis and diabetes insipidus. Additional manifestations include facial dysmorphy (dolichocephalic skull, hypertelorism, deep-set eyes, hypoplastic nares, low-set ears), short stature, truncal hypotonia and axial hypertonia. Brain anomalies (e.g. thin corpus callosum with lack of isthmus and tapered splenium, hypoplasia or atrophy of the optic chiasm, prominent lateral ventricles, diminished white matter), described on magnetic resonance imaging, have been reported. High prenatal α-fetoprotein and intrauterine growth restriction is observed in routine pregnancy examination." "" + "obsolete rare autonomic nervous system disorder" "Rare autonomic nervous system disease." "True" "true" + "double outlet right ventricle with subaortic or doubly committed ventricular septal defect" "" + "double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy" "" + "cutaneous larva migrans" "Cutaneous larva migrans is a rare parasitic disease characterized by single or multiple, linear or serpinginous, erythematous, slightly elevated cutaneous tracks caused by the larval migration of various nematode species. Tracks are variable in length, generally a few millimeters wide and are frequently located on the feet (although any area of the body is possible). Patients typically present with severe, intractable pruritus, which, in some cases, may cause impaired concentration, loss of sleep, and mood disturbances." "" + "obsolete rare carcinoma of stomach" "Rare stomach carcinoma." "True" "true" + "carcinoma of stomach, salivary gland type" "" + "undifferentiated carcinoma of stomach" "A carcinoma that arises from the stomach and is characterized by the absence of microscopic features of glandular or squamous differentiation." "" + "obsolete rare tumor of small intestine" "Any of the forms of small intestine neoplasm that have a rare incidence." "True" "true" + "microcephaly-complex motor and sensory axonal neuropathy syndrome" "Microcephaly-complex motor and sensory axonal neuropathy syndrome is an extremely rare subtype of hereditary motor and sensory neuropathy characterized by severe, rapidly-progressing, distal, symmetric polyneuropathy and microcephaly (which can be evident in utero) with intact cognition. Clinically it presents with delayed motor development, hypotonia, absent or reduced deep tendon reflexes, progressive muscle wasting and weakness and scoliosis." "" + "obsolete rare carcinoma of small intestine" "Any of the forms of small intestine carcinoma that have a rare incidence." "True" "true" + "obsolete rare epithelial tumor of colon" "Any of the forms of epithelial tumor of colon that have a rare incidence." "True" "true" + "obsolete rare epithelial tumor of rectum" "Any of the forms of epithelial neoplasm of rectum that have a rare incidence." "True" "true" + "obsolete obsolete carcinoma of the anal canal" "" "true" + "obsolete adenocarcinoma of the anal canal" "" "true" + "obsolete squamous cell carcinoma of the anal canal" "" "true" + "obsolete rare epithelial tumor of pancreas" "True" "true" + "obsolete acinar cell carcinoma of pancreas" "" "true" + "obsolete intraductal papillary mucinous carcinoma of pancreas" "" "true" + "solid pseudopapillary carcinoma of pancreas" "A malignant neoplasm arising from the exocrine pancreas. It occurs predominantly in young women. It is characterized by the presence of extensive necrosis and hemorrhage and is composed of polyhedral cells forming solid and pseudopapillary patterns. There is morphologic evidence of perineural invasion, vascular invasion, or extensive invasion into the surrounding tissues." "" + "obsolete serous cystadenocarcinoma of pancreas" "" "true" + "osteoclastic giant cell tumor of pancreas" "" + "congenital myopathy with myasthenic-like onset" "Congenital myopathy with myasthenic-like onset is a rare, genetic, non-dystrophic myopathy characterized by fatigable muscle weakness associated with congenital myopathy. Patients present with axial hypotonia, myopathic facies with fatigable ptosis, feeding difficulties, delayed gross motor development and proximal limb weakness with a RYR1-related typical pattern of muscle involvement (i.e. severe involvement of the soleus muscle and sparring of the rectus femoris, sartorius, gracilis and semitendinous muscles). Scoliosis and frequent respiratory tract infections are additional observed features." "" + "obsolete rare epithelial tumor of liver and intrahepatic biliary tract" "True" "true" + "undifferentiated carcinoma of liver and intrahepatic biliary tract" "Undifferentiated carcinoma of liver and intrahepatic biliary tract is an extremely rare epithelial tumor of the liver and biliary tract which presents heterogenous histological findings and not yet fully defined clinicopathological characterisitcs. Patients usually present with nonspecific signs and symptoms, such as abdominal pain, nausea, vomiting, anorexia, weight loss and/or jaundice. Invasive growth, hight metastatic potential and a rapid clinical course are typically associated." "" + "biliary cystadenocarcinoma" "A cystadenocarcinoma that involves the biliary tree." "" + "adenocarcinoma of gallbladder and extrahepatic biliary tract" "Adenocarcinoma of the gallbladder and extrahepatic biliary tract is a rare epithelial carcinoma, arising either in the gallbladder itself or from the epithelium lining the extrahepatic biliary tree, cystic duct and/or peribiliary gland, characterized by nonspecific symptoms, such as abdominal pain, jaundice and vomiting and sometimes mimicking benign biliary diseases. Chronic biliary epithelial inflammation (e.g. primary sclerosing cholangitis, cholelithiasis, choledocholithiasis, liver fluke infestation) is a major risk factor." "" + "carcinoma of gallbladder and extrahepatic biliary tract" "Carcinoma of the gallbladder (GBC) is the most common and aggressive form of biliary tract cancer (BTC) usually arising in the fundus of the gallbladder, rapidly metastasizing to lymph nodes and distant sites." "" + "squamous cell carcinoma of gallbladder and extrahepatic biliary tract" "Squamous cell carcinoma of the gallbladder and extrahepatic biliary tract is a rare hepatic and biliary tract tumor, arising either in the gallbladder itself or in the epithelium lining the extrahepatic biliary tree, the cystic duct and peribiliary glands. It is characterized by a substantial keratinization with abundant keratohyalin pearls and central deposition of dense keratin material within infiltrative nests and locally aggressive nature. In the early stages of the disease symptoms are vague and nonspecific (abdominal pain, jaundice and vomiting). In the advanced stages it may present with a bulky tumor and symptoms of adjacent organ involvement." "" + "obsolete rare epithelial tumor of small intestine" "True" "true" + "PFAPA syndrome" "An auto inflammatory syndrome characterized by recurrent febrile episodes associated with aphthous stomatitis, pharyngitis and cervical adenitis." "" + "obsolete primary immunodeficiency with predisposition to severe viral infection" "" "true" + "serotonin syndrome" "Serotoninergic syndrome is characterised by an excess of serotonin in the central nervous system, associated with the use of various agents, including selective serotonin reuptake inhibitors (SSRIs)." "" + "acute tricyclic antidepressant poisoning" "Acute tricyclic antidepressant (TCA) poisoning is a potentially lethal intoxication that is characterized by life-threatening arrhythmias (sinus tachycardias, premature ventricular contractions, ventricular arrhythmias), anticholinergic toxidrome (mydriasis, dry mucous membrane, tachycardia, hypertension), central nervous system toxicity (lethargy, coma, myoclonic jerks), refractory hypotension, and sudden death." "" + "acute poisoning by drugs with membrane-stabilizing effect" "Acute poisoning with a membrane-stabilizing effect is potentially life-threatening. The principle drugs involved are tricyclic antidepressants, chloroquine, some types of beta blockers, class IA antiarrhythmics, carbamazepin and cocaine." "" + "patent urachus" "Patent urachus is a type of congenital urachal anomaly characterized by a persistent communication between the bladder and the umbilicus, secondary to non occlusion of the urachal lumen, manifesting as clear drainage from the umbilicus." "" + "congenital urachal anomaly" "Congenital urachal anomaly (CUA) describes a group of urachal remnants, found more frequently in males than females, that result from incomplete closure of the urachus (an embryological remnant of the allantois) during prenatal development, and that are usually asymptomatic (and found as an incidental finding on a radiological study) but can also present with umbilical discharge (in patent urachus or urachal sinus), infraumblical mass and pain, or with complications such as obstruction and infection. CUAs include patent urachus, urachal sinus, urachal cyst and urachal diverticulum." "" + "urachal sinus" "Urachal sinus is a type of congenital urachal anomaly resulting from the failure of the umbilical end of the urachus to close, without continuity to the bladder, and that is usually asymptomatic but can present with continuous cloudy umbilical discharge, tender midline infraumbilical mass and fever when infected." "" + "urachal diverticulum" "Urachal diverticulum is the rarest type of congenital urachal anomaly resulting from the failure of the distal urachus to close at its point of connectivity to the bladder that is usually asymptomatic but can be associated with recurrent urinary tract infections and other complications." "" + "Lambert-Eaton myasthenic syndrome" "Lambert-Eaton myasthenic syndrome (LEMS) is an autoimmune, presynaptic disorder of neuromuscular transmission characterized by fluctuating muscle weakness and autonomic dysfunction frequently associated with small-cell lung cancer (SCLC)." "" + "obsolete rare genetic autonomic nervous system disorder" "Rare genetic autonomic nervous system disease." "True" "true" + "anterior urethral valve" "" + "3p25.3 microdeletion syndrome" "3p25.3 microdeletion syndrome is a rare chromosomal anomaly characterized by intellectual disability, epilepsy or EEG abnormalities, poor speech, ataxia, and stereotypic hand movements." "" + "short stature-advanced bone age-early-onset osteoarthritis syndrome" "" + "autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation" "" + "obsolete COG2-CDG" "" "true" + "X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome" "X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome is a rare syndromic intellectual disability characterized by hypotonia, microcephaly, severe developmental delay, seizures, intellectual disability, growth retardation, cardiovascular septal defects, cryptorchidism, hypospadias, and dysmorphic features - prominent ears, prognathism, thin upper lip, dental crowding." "" + "contractures-developmental delay-Pierre Robin syndrome" "" + "severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome" "" + "intrauterine growth restriction-short stature-early adult-onset diabetes syndrome" "" + "non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy" "" + "pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa" "" + "obsolete hypophosphatemic rickets" "" "true" + "progressive encephalomyelitis with rigidity and myoclonus" "" + "GCGR-related hyperglucagonemia" "" + "human infection by orthopoxvirus" "" + "obsolete placental insufficiency" "" "true" + "pediatric arterial ischemic stroke" "" + "zinc-responsive necrolytic acral erythema" "" + "non-recovering obstetric brachial plexus lesion" "" + "ALECT2 amyloidosis" "A rare, systemic amyloidosis characterized by slowly progressive renal disease presenting with proteinuria, hypertension and decreased glomerular filtration rate leading to progressive renal failure. Histology reveals amyloid deposits of leukocyte chemotactic factor-2 protein in the renal cortical interstitium, tubular basement membranes, glomeruli and the vessel walls. Extra-renal deposits can be seen in the liver, lungs, spleen and adrenal glands." "" + "AApoAIV amyloidosis" "" + "cutaneous polyarteritis nodosa" "Cutaneous polyarteritis nodosa (CPAN) is a rare limited form of polyarteritis nodosa (PAN), characterized by cutaneous vasculitis and mild and transient extracutaneous manifestations such as mild arthralgia, arthritis,myalgia, and rarely peripheral neuropathy." "" + "primary polyarteritis nodosa" "" + "polyarteritis nodosa" "Polyarteritis nodosa (PAN) is a rare, clinically heterogeneous, rheumatologic disease characterized by necrotizing inflammatory lesions affecting small- and medium-sized blood vessels. PAN most commonly affects skin, joints, peripheral nerves, the gut, and the kidney." "" + "secondary polyarteritis nodosa" "Secondary polyarteritis nodosa (PAN) is a rare serious form of PAN characterized by vasculitis in a background of viral infection, primarily with hepatitis B virus (HBV)." "" + "single-organ polyarteritis nodosa" "Single-organ polyarteritis nodosa (PAN) is a rare, often mild form of PAN characterized by limited disease without generalized manifestations, most often affecting the skin (cutaneous PAN), the brain, eyes, pancreas, testicles, ureter, breasts, or ovaries. Affected patients are often younger than those with systemic PAN and relapses appear to be more common." "" + "systemic polyarteritis nodosa" "Systemic polyarteritis nodosa (PAN) is a chronic systemic necrotizingvasculitis of adults and childrenaffecting small- and medium-sized vessels and characterized by formation of microaneurysms leading to serious generalized disease and multi-organ involvement." "" + "plastic bronchitis" "A lymphatic flow disorder that causes severe respiratory issues. In children with plastic bronchitis, lymph fluid builds in the airways and forms rubbery or caulk-like plugs (known as casts). These casts block the airways, making it difficult to breathe." "" + "obsolete neonatal adrenoleukodystrophy" "Neonatal adrenoleukodystrophy (NALD) is the variant of intermediate severity of the PBD-Zellweger syndrome spectrum (PBD-ZSS), charcterized by hypotonia, leukodystrophy, and vision and sensorineural hearing deficiencies. Phenotypic overlap is seen between NALD and infantile Refsum disease (IRD)." "" "true" + "congenital oculomotor nerve palsy" "" + "congenital abducens nerve palsy" "" + "autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome" "" + "necrotizing soft tissue infection" "" + "interstitial lung disease due to SP-C deficiency" "" + "familial colorectal cancer type X" "Hereditary nonpolyposis colorectal cancer characterized by the absence of germline mutations in DNA mismatch-repair genes." "" + "extensive peripapillary myelinated nerve fibers" "" + "combined hamartoma of the retina and retinal pigment epithelium" "" + "pure autonomic failure" "Pure autonomic failure (PAF) is a neurodegenerative disease that affects the sympathetic branch of the autonomous nervous system and that manifests with orthostatic hypotension." "" + "early-onset posterior subcapsular cataract" "" + "early-onset lamellar cataract" "" + "AH amyloidosis" "" + "hemicrania continua" "Hemicrania continua (HC) is a type of primary headache disorder, which means the headache is not caused by another medical condition. Symptoms of HC include constant mild to moderate pain on one side of the head (unilateral) with periods of more intense, severe, migraine -like pain (exacerbations). These severe pain periods can last from 20 minutes to days. The frequency of exacerbations also varies greatly. The headache stays on the same side of the head and usually without pain free periods. HC is more common in women and most often starts in adulthood, but may begin anywhere from 5 to 67 years of age. Diagnosis of hemicrania continua (HC) is made by ruling out other possible causes of the pain and by clinical symptoms. During the periods of severe pain, at least one of the following symptoms must be present on same side of the body as the headache: watering or red eyes (conjunctival injection), congested or runny nose, or drooping eyelid. In addition, the headache pain must respond to treatment with indomethacin. The cause of HC is unknown. Other treatments for those who cannot tolerate long term indomethacin therapy are being studied." "" + "central serous chorioretinopathy" "Central serous chorioretinopathy is a disease that causes fluid to build up under the retina, the back part of the inner eye that sends sight information to the brain. The fluid leaks from thechoroid (theblood vessel layer under the retina). The cause of this condition is unknown but stress can be a risk factor. Signs and symptoms include dim and blurred blind spot in the center of vision, distortion of straight linesand seeingobjectsas smaller or farther away. Many cases of central serous chorioretinopathy improve without treatment after 1-2 months. Laser treatment may be an option for other individuals." "" + "baroreflex failure" "Baroreflex failure is a rare disorder that causes fluctuations in blood pressure with episodes of severe hypertension (high blood pressure) and elevated heart rate in response to stress, exercise, and pain. Individuals may also have hypotension (low blood pressure) with normal or reduced heart rate during periods of rest. Symptoms of baroreflex failure may include headache, sweating, and a heart rate that does not respond to medications. The onset of baroreflex failure may be very abrupt or more gradual. In many cases, the cause of baroreflex failure is not known. However, baroreflex failure can result from surgery or radiation treatment for cancers of the neck, injury to the nerves involved in sensing blood pressure, or a degenerative neurologic disease. Treatment usually involves medications to control blood pressure and heart rate along with stress reduction techniques." "" + "hypothalamic adipsic hypernatraemia syndrome" "" + "lymphoplasmacytic lymphoma without IgM production" "" + "obsolete nut midline carcinoma" "" "true" + "postpartum psychosis" "Postpartum psychosis is a rare psychiatric emergency in which symptoms of high mood and racing thoughts (mania), depression, severe confusion, loss of inhibition, paranoia, hallucinations and delusions set in, beginning suddenly in the first two weeks after childbirth. The symptoms vary and can change quickly." "" + "puerperal disorder" "Disorders or diseases associated with puerperium, the six-to-eight-week period immediately after parturition in humans." "" + "spontaneous intracranial hypotension" "" + "classic stiff person syndrome" "" + "paratyphoid fever" "A condition resembling typhoid fever that is caused by infection by Salmonella enterica serovar Parathyphi." "" + "HIV-associated cancer" "" + "focal stiff limb syndrome" "" + "11q22.2q22.3 microdeletion syndrome" "" + "20q11.2 microdeletion syndrome" "20q11.2 microdeletion syndrome is a rare, genetic, syndromic intellectual disability characterized by psychomotor delay, hypotonia, feeding difficulties, failure to thrive, anomalies of the hands and feet (clinodactyly, camptodactyly, brachydactyly, feet malposition), and craniofacial dysmorphism. Associated prenatal growth retardation, and gastrointestinal, heart and eye anomalies have been reported." "" + "idiopathic phalangeal acro-osteolysis" "" + "autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome" "" + "pseudohypoaldosteronism" "An inherited or acquired disorder of electrolyte metabolism, characterized by the inability of the renal tubules to respond to aldosterone. It is manifested by hyperkalemic metabolic acidosis, urinary salt wasting, normal or increased aldosterone secretion and normal glomerular filtration rate." "" + "obsolete paroxysmal nocturnal hemoglobinuria" "" "true" + "NIK deficiency" "A immunodeficiency disorder caused by loss of function mutation in NIK (MAP3K14)." "" + "susceptibility to localized juvenile periodontitis" "" + "autosomal dominant complex spastic paraplegia type 9B" "" + "IgG4-related sclerosing cholangitis" "" + "secondary sclerosing cholangitis" "" + "Keratocystic odontogenic tumor" "An intraosseous odontogenic neoplasm that usually arises from the mandible. It is characterized by the presence of a single or multiple cysts lined with parakeratinized stratified squamous epithelium. The neoplastic lesions may be solitary or multiple. It has the potential for aggressive behavior, local destruction, and recurrence." "" + "cerebral visual impairment" "A vision disorder that results from damage of the part of the cerebral cortex that is involved in the processing of visual information." "" + "obsolete hemochromatosis type 5" "" "true" + "obsolete lipoyl transferase 2 deficiency" "" "true" + "obsolete biological anomaly without phenotypic characterization" "" "true" + "Polymerase proofreading-related adenomatous polyposis" "" + "idiopathic dropped head syndrome" "" + "hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome" "" + "tremor-ataxia-central hypomyelination syndrome" "" + "pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome" "" + "19p13.3 microduplication syndrome" "19p13.3 microduplication syndrome is a rare, genetic, syndromic intellectual disability characterized by intrauterine growth retardation, microcephaly, hypotonia, motor and neurodevelopmental delay, speech delay, intellectual disability, and mild dysmorphic features." "" + "partial duplication of the short arm of chromosome 19" "" + "obsolete rare hemorrhagic disorder due to a constitutional coagulation factors defect" "True" "true" + "regressive spondylometaphyseal dysplasia" "" + "ectopia cordis" "A rare congenital anomaly where the heart is formed outside of the thoracic cavity. It is associated with intracardiac lesions and other structural malformations." "" + "X-linked acrogigantism due to a point mutation" "" + "scedosporiosis" "" + "snakebite envenomation" "" + "symptomatic form of fragile X syndrome in female carrier" "" + "IgG4-related kidney disease" "" + "IgG4-related aortitis" "" + "IgG4-related pachymeningitis" "Idiopathic hypertrophic pachymeningitis (IHP) is a rare disorder causing inflammation and thickening of the outer layer (dura) of the brain and/or spinal cord. IHP can be widespread or cause tumor-like lesions. Before IHP can be diagnosed, other conditions including sarcoidosis, tumors, meningioma, infections (syphilis, tuberculosis, and Lyme disease), and autoimmune diseases (rheumatoid arthritis, Sjogrenbs syndrome, Wegenerbs granulomatosis, and IgG4-related disease) must be ruled out. IHP often presents with headache and cranial nerve impairment. Treatment may involve prednisone and/or an immune suppressing drug. This treatment often improves symptoms, however complete recovery is rare. Surgery may be recommended for people with advanced or severe IHP. Some people with IHP have no symptoms and may not need treatment." "" + "IgG4-related submandibular gland disease" "A chronic fibrotic inflammatory process affecting the salivary gland. Signs and symptoms include firm and painful swelling of the salivary gland, often associated with the presence of salivary gland stones." "" + "IgG4-related ophthalmic disease" "A IgG4-related disease that involves the eye." "" + "eosinophilic angiocentric fibrosis" "" + "heart position anomaly" "" + "polyclonal hyperviscosity syndrome" "" + "primary cutaneous plasmacytosis" "" + "cutaneous pseudolymphoma" "A pseudolymphoma of the skin." "" + "congenital insensitivity to pain with severe intellectual disability" "" + "acquired ichthyosis" "A non-hereditary form of ichthyosis characterized by plate-like scales on the legs, arms and occasionally the torso." "" + "idiopathic neonatal atrial flutter" "Idiopathic neonatal atrial flutter (AFL) is a rare rhythm disorder, characterized by sustained tachycardia in newborns and infants with an atrial rate often at around 440 beats/minute (range 340-580). AFL may manifest as asymptomatic tachycardia, congestive heart failure or hydrops." "" + "incessant infant ventricular tachycardia" "Incessant infant ventricular tachycardia is a rare type of ventricular tachycardia (VT) characterized by the presence of tachycardia originating from the ventricles, observed for more than 10% of a 24 hour monitoring period. Patients are either asymptomatic or present congestive heart failure." "" + "encephalopathy, bovine spongiform" "A transmissible spongiform encephalopathy of cattle associated with abnormal prion proteins in the brain. Affected animals develop excitability and salivation followed by ataxia. This disorder has been associated with consumption of scrapie infected ruminant derived protein. This condition may be transmitted to humans, where it is referred to as variant or new variant creutzfeldt-jakob syndrome. (Vet Rec 1998 Jul 25;143(41):101-5)" "" + "progressive muscular atrophy" "A rare, milder form of amyotrophic lateral sclerosis. It is characterized by a slowly progressive clinical course. Signs and symptoms include muscle weakness, atrophy, and fasciculation." "" + "anti-p200 pemphigoid" "" + "plasma cell leukemia" "An aggressive plasma cell neoplasm characterized by the presence of neoplastic plasma cells in the peripheral blood. It is characterized by the presence of a circulating clonal plasma cell count that exceeds 2x10^9/L or is 20% of the leukocyte differential count." "" + "Holmes-Adie syndrome" "A rare syndrome characterized by an abnormally dilated pupil, hypoflexia, and diaphoresis. The syndrome is usually caused by a viral or bacterial infection. The abnormally dilated pupil is caused by damage to postganglionic parasympathetic fibers innervating the eye." "" + "obsolete endometrioid carcinoma of ovary" "" "true" + "variably protease-sensitive prionopathy" "" + "obsolete kuru" "" "true" + "isolated tracheo-esophageal fistula" "A congenital or acquired abnormal communication between the trachea and the esophagus." "" + "avian influenza" "Infection of domestic and wild fowl and other birds with influenza A virus. Avian influenza usually does not sicken birds, but can be highly pathogenic and fatal in domestic poultry." "" + "corticobasal syndrome" "Corticobasal syndrome (CBS) is a rare neurodegenerative disease characterized by multifaceted motor system dysfunctions and cognitive defects such as asymmetric rigidity, bradykinesia, limb apraxia, and visuospatial dysfunction." "" + "1p35.2 microdeletion syndrome" "" + "hereditary neuroendocrine tumor of small intestine" "An instance of neuroendocrine tumor of the small intestine that is caused by an inherited modification of the individual's genome." "" + "obsolete pseudohypoparathyroidism with Albright hereditary osteodystrophy" "" "true" + "obsolete pseudohypoparathyroidism without Albright hereditary osteodystrophy" "" "true" + "Castleman-Kojima disease" "A clinicopathologic variant of multicentric Castleman's disease characterized by thrombocytopenia, ascites (anasarca), microcytic anemia, myelofibrosis, renal dysfunction, and organomegaly" "" + "isolated splenogonadal fusion" "" + "obsolete actinomycosis" "" "true" + "infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome" "" + "syndromic sensorineural deafness due to combined oxidative phosphorylation defect" "" + "obsolete clear cell sarcoma of kidney" "" "true" + "squamous cell carcinoma of the oral tongue" "" + "X-linked intellectual disability-hypotonia-movement disorder syndrome" "" + "megalencephaly-severe kyphoscoliosis-overgrowth syndrome" "" + "intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome" "" + "composite hemangioendothelioma" "An intermediate, locally aggressive and rarely metastasizing blood vessel neoplasm. It is characterized by the presence of spindle, plump, and epithelioid endothelial cells and cellular atypia." "" + "retiform hemangioendothelioma" "An intermediate, locally aggressive and rarely metastasizing blood vessel neoplasm. It is characterized by the presence of hobnail endothelial cells and formation of arborizing vascular channels." "" + "primary intralymphatic angioendothelioma" "An intermediate, rarely metastasizing blood vessel neoplasm. It is characterized by the presence of lymphatic-like vascular channels and papillary endothelial proliferation." "" + "partially involuting congenital hemangioma" "A clinical subtype of congenital hemangioma that begins as a rapidly involuting congenital hemangioma (RICH) but fails to completely involute and persists as a non-involuting congenital hemangioma (NICH)-like lesion" "" + "mixed cystic lymphatic malformation" "" + "obsolete rare combined vascular malformation" "True" "true" + "obsolete primary lymphedema with associated anomalies" "" "true" + "obsolete rare vascular malformation of major vessels" "True" "true" + "X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome" "" + "corpus callosum agenesis-macrocephaly-hypertelorism syndrome" "" + "obsolete immunodeficiency due to a complement cascade component deficiency" "" "true" + "obsolete rare genetic capillary malformation" "True" "true" + "obsolete rare genetic venous malformation" "An instance of rare venous malformation that is caused by a modification of the individual's genome." "True" "true" + "" "true" + "intellectual disability syndrome due to a DYRK1A point mutation" "" + "verrucous hemangioma" "A skin hemangioma characterized by the presence of epidermal hyperplasia." "" + "multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome" "Human MALT1 wild-type allele is located in the vicinity of 18q21 and is approximately 79 kb in length. This allele, which encodes mucosa associated lymphoid tissue lymphoma translocation gene 1 protein, plays a role in the modulation of the nuclear factor kappa B complex signaling cascade. The gene is involved in a chromosomal translocation t(11;18)(q21;q21) with the BIRC2 gene in mucosa-associated lymphoid tissue lymphomas." "" + "catastrophic antiphospholipid syndrome" "" + "benign metanephric tumour" "A benign neoplasm that involves the metanephros." "" + "neonatal alloimmune neutropenia" "" + "drug-induced methemoglobinemia" "Methemoglobinemia that is caused by exposure to certain drugs (xylocaine and benzene)." "" + "acquired hemoglobinopathy" "An instance of hemoglobinopathy that is acquired during the lifetime of the individual." "" + "paracetamol poisoning" "" + "familial gastric type 1 neuroendocrine tumor" "" + "acquired epidermolysis bullosa" "Epidermolysis bullosa acquisita (EBA) is a subepidermal bullous dermatosis of autoimmune origin that was named as a result of its resemblance to hereditary forms of epidermolysis bullosa (HEB), most notably dystrophic HEB." "" + "linear IgA Dermatosis" "Autoimmune disease characterized by subepidermal blisters and linear deposition of autoantibodies at the dermoepidermal junction. The accumulated autoantibodies are of immunoglobulin A and occasionally immunoglobulin G classes against epidermal basement membrane proteins. The dermatosis is sometimes associated with malignancies and use of certain drugs (e.g., vancomycin)." "" + "hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome" "Hereditary persistence of fetal hemoglobin (HPFH) associated with beta-thalassemia is characterized by high hemoglobin (Hb) F levels and an increased number of fetal-Hb-containing-cells." "" + "class I glucose-6-phosphate dehydrogenase deficiency" "True" + "exercise-induced malignant hyperthermia" "" + "obsolete rare disease with malignant hyperthermia" "True" "true" + "cyanide poisoning" "" + "scorpion envenomation" "Scorpion envenomation is a rare intoxication caused by a scorpion sting which typically manifests with localized pain, edema, erythema, and paresthesias at the site of the sting and, when severe, progresses to produce systemic symptoms of variable severity that include respiratory difficulties, abnormal systemic blood pressure, cardiac arrhythmia, and a combination of parasympathetic (i.e. excessive salivation and lacrimation, diaphoresis, miosis, frequent urination, diarrhea, vomiting, priapism) and sympathetic (e.g. hyperthermia, hyperglycemia, mydriasis) manifestations. Neurological manifestations may also be associated, such as abnormal eye movements, blurred vision, agitation and restlessness, as well as muscle fasciculations and spasms. Signs and symptoms are highly variable and in most severe cases may lead to cardiogenic shock and pulmonary edema." "" + "euthyroid Graves orbitopathy" "" + "supratip dysplasia" "Supratip dysplasia is a rare, congenital, non-syndromic, nose and cavum malformation characterized by the presence of a bulbous, soft tissue hypertrophy located in the middle-to-distal third of the nasal dorsum, in association with deformed, slightly laterally- and caudally-placed nasal alae and a scar-like atrophic skin lesion located at the nasal tip. Respiratory function is not affected." "" + "arterial duct anomaly" "" + "childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome" "" + "SMARCA4-deficient sarcoma of thorax" "" + "Tubulinopathy-associated dysgyria" "" + "cryptogenic multifocal ulcerous stenosing enteritis" "" + "chronic enteropathy associated with SLCO2A1 gene" "" + "severe primary trimethylaminuria" "Any trimethylaminuria in which the cause of the disease is a mutation in the FMO3 gene." "" + "isosporiasis" "An intestinal infection with Isospora belli." "" + "autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome" "" + "erythrokeratodermia-cardiomyopathy syndrome" "A rare, genetic erythrokeratoderma disorder characterized by generalized cutaneous erythema with fine white scales and pruritus refractory to treatment, progressive dilated cardiomyopathy, palmoplantar keratoderma, sparse or absent eyebrows and eyelashes, sparse scalp hair, nail dystrophy, and dental enamel anomalies. Variable features include failure to thrive, developmental delay, and development of corneal opacities. Histology shows psoriasiform acanthosis, hypogranulosis, and compact orthohyperkeratosis." "" + "obsolete inherited odontologic disease" "" "true" + "autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome" "" + "congenital generalized hypercontractile muscle stiffness syndrome" "" + "fibroblastic rheumatism" "" + "pediatric multiple sclerosis" "Pediatric multiple sclerosis (MS) is a rare multiple sclerosis variant characterized by the onset of multiple sclerosis (i.e. one or multiple episodes of clinical CNS symptoms consistent with acquired CNS demyelination, with radiologically proven dissemination of inflammatory lesions in space and time, following exclusion of other disorders) before the age of 18 years old. Pediatric MS patients present a predominantly relapsing-remitting course with first attack usually consisting of optic neuritis, transverse myelitis, acute disseminated encephalomyelitis and monofocal or polyfocal neurological deficits. A high burden of T2-hyperintense lesions on intial MRI, primarily of the supratentorial region and/or of the cervical spinal cord, has been reported." "" + "obsolete nodular fasciitis" "A self-limiting, rapidly growing, non-encapsulated benign neoplasm that arises from the soft tissues. It is characterized by the presence of plump spindle-shaped fibroblasts, multinucleated osteoclast-like giant cells, chronic inflammatory infiltrate, red blood cell extravasation, and high mitotic activity." "" "true" + "pontine autosomal dominant microangiopathy with leukoencephalopathy" "" + "COL4A1 or COL4A2-related cerebral small vessel disease with ischemic tendancy" "True" + "COL4A1 or COL4A2-related cerebral small vessel disease" "" + "primary condylar hyperplasia" "" + "cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder" "" + "obsolete rare hypercholesterolemia" "Rare hypercholesterolemia." "True" "true" + "" "true" + "" "true" + "MYO5B-related progressive familial intrahepatic cholestasis" "" + "bile duct cyst" "Cystic dilatation of the hepatic duct or bile duct." "" + "primary intrahepatic lithiasis" "" + "idiopathic ductopenia" "" + "Caroli syndrome" "" + "idiopathic peliosis hepatis" "" + "lethal hydranencephaly-diaphragmatic hernia syndrome" "Lethal hydranencephaly-diaphragmatic hernia syndrome is a rare, genetic, lethal, multiple congenital anomalies syndrome characterized by hydranencephaly and diaphragmatic hernia, as well as macrocephaly, a widely open anterior fontanel, scaphoid abdomen and hypotonia. Additionally, congenital heart defects, polyhydramnios and pulmonary hypertension have also been associated." "" + "congenital portosystemic shunt" "Congenital portosystemic shunt is a rare, congenital anomaly of the great veins characterized by an abnormal communication between one or more veins of the portal and the caval systems, resulting in complete or partial diversion of the portal blood away from the liver to the systemic circulation. Clinical manifestations include liver atrophy, hypergalactosemia without uridine diphosphate enzyme deficiency, hyperammonemia, encephalopathy (resulting in learning disabilities, extreme fatigability and seizures), pulmonary hypertension, hypoxemia from hepatopulmonary syndrome and benign or malignant tumours." "" + "MSH3-related attenuated familial adenomatous polyposis" "" + "high grade B-cell lymphoma with MYC and/ or BCL2 and/or BCL6 rearrangement" "" + "aneurysmal bone cyst" "A locally aggressive and destructive benign cystic lesion of the bone. It is characterized by the formation of multiloculated hemorrhagic cystic spaces which are separated by fibrous septa. It can arise from any bone, but usually affects the metaphysis of long bones. It manifests with pain and swelling and may recur following curettage." "" + "isolated neonatal sclerosing cholangitis" "Isolated neonatal sclerosing cholangitis is a rare, genetic, biliary tract disease characterized by severe neonatal-onset cholangiopathy with patent bile ducts and absence of ichthyosiform skin lesions. Patients present with jaundice, acholic stools, hepatosplenomegaly and high serum gamma-glutamyltransferase activity. Liver histology shows portal fibrosis, ductular proliferation, hepatocellular metallothionein deposits, and intralobular bile-pigment accumulations. Some patients may also have renal disease." "" + "" "true" + "facial diplegia with paresthesias" "" + "obsolete fibular aplasia-tibial campomelia-oligosyndactyly syndrome" "" "true" + "recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome" "Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome is a rare, genetic, neurodegenerative disease characterized by episodic metabolic encephalomyopathic crises (of variable frequency and severity which are frequently precipitated by an acute illness) which manifest with profound muscle weakness, ataxia, seizures, cardiac arrhythmias, rhabdomyolysis with myoglobinuria, elevated plasma creatine kinase, hypoglycemia, lactic acidosis, increased acylcarnitines and a disorientated or comatose state. Global developmental delay, intellectual disability and cortical, pyramidal and cerebellar signs develop with subsequent progressive neurodegeneration causing loss of expressive language and varying degrees of cerebral atrophy." "" + "X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability" "" + "global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome" "Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome is a rare, genetic, neurological disorder characterized by mild to severe developmental delay and speech impairment, truncal hypotonia, abnormalities of vision (including cortical visual impairment and abnormal visual-evoked potentials), progressive brain atrophy mainly affecting the cerebellum, and shortened or atrophic corpus callosum. Other clinical findings may include increased muscle tone in the extremities, dystonic posturing, hyporeflexia, scoliosis, postnatal microcephaly and variable facial dysmorphism (e.g. deep-set eyes, gingival hyperplasia, short philtrum and retrognathia)." "" + "X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome" "" + "pyoderma gangrenosum" "Pyoderma gangrenosum (PG) is a primarily sterile inflammatory neutrophilic dermatosis characterized by recurrent cutaneous ulcerations with a mucopurulent or hemorrhagic exudate." "" + "PYCR2-related microcephaly-progressive leukoencephalopathy" "PYCR2-related microcephaly-progressive leukoencephalopathy is a rare, genetic, syndromic intellectual disability disorder characterized by progressive postnatal microcephaly, cerebral hypomyelination and severe psychomotor developmental delayed with absent speech, as well as axial hypotonia, appendicular hypertonia with hyperextensibility of the wrists and ankles, hyperreflexia, severe muscle wasting and failure to thrive. Associated craniofacial dysmorphism includes triangular facies with bitemporal narrowing, down- or upslanting palpebral fissures, malar hypoplasia, large malformed ears with overfolded helices, upturned bulbous nose, long smooth philtrum and thin vermilion borders." "" + "Lewis-Sumner syndrome" "A rare acquired demyelinating polyneuropathy characterized by asymmetrical distal weakness of the upper or lower extremities and motor dysfunction with adult onset. It is considered to be a variant of chronic inflammatory demyelinating polyneuropathy." "" + "pseudo-TORCH syndrome 2" "" + "familial schizencephaly" "An instance of schizencephaly that is caused by an inherited modification of the individual's genome." "" + "Kimura disease" "Kimura disease is a benign and chronic inflammatory disorder of unknown etiology, occurring mainly in Asian countries (very rarely in Western countries) and predominantly affecting young men, that usually presents with a solitary or multiple non-tender subcutaneous masses in the head and neck region (in particular the preauricular and submandibular area) and/or generalized painless lymphadenopathy, often with salivary gland involvement. Characteristic laboratory findings include blood eosinophilia and markedly elevated serum immunoglobulin E (IgE) levels. It is often associated with autoinflammatory disorders (i.e. ulcerative colitis, bronchial asthma) and a co-existing renal disease." "" + "HTRA1-related autosomal dominant cerebral small vessel disease" "" + "obsolete rare idiopathic macular telangiectasia" "True" "true" + "adenylosuccinate synthetase-like 1-related distal myopathy" "" + "nodular regenerative hyperplasia of the liver" "Nodular regenerative hyperplasia of the liver is a rare parenchymatous liver disease characterized by diffuse benign transformation of the hepatic parenchyma into multiple small nodules (composed of regenerating hepatocytes) and that is usually asymptomatic but can lead to the development of non-cirrhotic portal hypertension and its complications, including esophageal variceal bleeding, hypersplenism and ascites. It is often associated with rheumatologic, autoimmune, hematologic, and myeloproliferative disorders as well as various immune deficiency states and exposure certain drugs and toxins." "" + "obsolete subcorneal pustular dermatosis" "" "true" + "postinfectious vasculitis" "Vasculitis, characterized by inflammatory lesions in the wall of vessels, may be due to different viruses." "" + "acquired schizencephaly" "An instance of schizencephaly that is acquired during the lifetime of the individual." "" + "isolated congenital hepatic fibrosis" "A congenital disorder usually inherited in an autosomal recessive pattern. It affects the hepatobiliary system and the kidneys. It is characterized by liver fibrosis, portal hypertension, and renal cysts." "" + "primary effusion lymphoma" "Primary effusion lymphoma (PEL) is a large B-cell lymphoma located in the body cavities, characterized by pleural, peritoneal, and pericardial fluid lymphomatous effusions and that is always associated with human herpes virus-8 (HHV-8)." "" + "urachal cyst" "Urachal cyst is a congenital urachal anomaly characterized by a failure of complete closure of the urachus, in which both ends are closed but the central lumen remains patent. It is typically asymptomatic but may become clinically significant when infected, presenting as a mass in the umbilical region accompanied by abdominal pain and fever." "" + "focal myositis" "Focal myositis is a rare inflammatory myopathy characterized by a localized swelling of skeletal muscle that is usually located in the lower extremities." "" + "penile agenesis" "An extremely rare congenital abnormality characterized by the complete absence of the penis. It may be associated with other genitourinary abnormalities." "" + "omphalomesenteric cyst" "" + "proliferating trichilemmal cyst" "Proliferating trichilemmal tumor is a rare large, multinodular, usually benign, tumor that is generally located in the posterior part of the scalp in aged women (over 50 years). It first appears as a painless nodule that later grows into a solid or partially cystic tumor that is mobile over the underlying subcutaneous tissues. It can present ulceration, inflammation or even bleeding and can cause necrosis of the adjacent tissues." "" + "familial keratoacanthoma" "Multiple familial keratoacanthoma (KA) of Witten and Zak is a rare a rare inherited skin cancer syndrome and is characterized by the coexistence of features characteristic of both multiple KA, Ferguson Smith type and generalized eruptive keratoacanthoma, such as multiple small miliary-type lesions, larger self-healing lesions, and nodulo-ulcerative lesions. Lesions do not have a predilection for the mucosal surfaces. Transmission is autosomal dominant." "" + "transgrediens et progrediens palmoplantar keratoderma" "" + "acquired purpura fulminans" "A life-threatening, rapidly progressive thrombotic disorder affecting mainly neonates and children that is characterized by purpuric skin lesions and disseminated intravascular coagulation. PF may progress rapidly to multi-organ failure caused by thrombotic occlusion of small and medium-sized blood vessels. There are two forms of PF that are classified according to triggering mechanisms: acute infectious (the most common form), and idiopathic PF." "" + "keratosis pilaris" "A form of dry skin characterised by hair follicles plugged by scale." "" + "lichen amyloidosis" "Lichen amyloidosis is a rare chronic form of cutaneous amyloidosis, a skin disease characterized by the accumulation of amyloid deposits in the dermis, clinically characterized by the development of pruritic, often pigmented, hyperkeratotic papules on trunk and extremities, especially on the shins, and histologically by the deposition of amyloid or amyloid-like proteins in the papillary dermis." "" + "creeping myiasis" "" + "Graham Little-Piccardi-Lassueur syndrome" "Graham Little-Piccardi-Lassueur syndrome is a variant of lichen planopilaris characterized by the clinical triad of progressive cicatricial (scarring) alopecia of the scalp, follicular keratotic papules on glabrous skin, and variable alopecia of the axillae and groin." "" + "obsolete Leigh disease" "" "true" + "microlissencephaly-micromelia syndrome" "Microlissencephaly-micromelia syndrome is a syndrome of abnormal cortical development, characterized by severe prenatal polyhydramnios, postnatal microcephaly, lissencephaly, upper limb micromelia, dysmorphic facies (coarse face, hypertrichosis, and short nose with long philtrum), intractable seizures, and early death. Hypoparathyroidism was noted in one case." "" + "Zellweger-like syndrome without peroxisomal anomalies" "Zellweger-like syndrome without peroxisomal anomalies is an extremely rare mitochondrial disorder characterized by facial dysmorphism similar to that seen in Zellweger syndrome, such as frontal bossing, high forehead, upslanting palpebral fissures, hypoplastic supraorbital ridges, and epicanthal folds, and in addition, pale skin, profound hypotonia, developmental delay, and minor metabolic anomalies. No peroxysomal defects, however, have been reported. Transmission is thought to be autosomal recessive." "" + "obsolete cat-scratch disease" "" "true" + "obsolete leptospirosis" "" "true" + "Kikuchi-Fujimoto disease" "Kikuchi-Fujimoto disease (KFD) is a benign and self-limited disorder, characterized by regional cervical lymphadenopathy with tenderness, usually accompanied with mild fever and night sweats. Less frequent symptoms include weight loss, nausea, vomiting, sore throat." "" + "obsolete maple syrup urine disease" "" "true" + "acute myelomonocytic leukemia M4" "An acute leukemia characterized by the proliferation of both neutrophil and monocyte precursors. (WHO, 2001)" "" + "anterior cutaneous nerve entrapment syndrome" "Anterior cutaneous nerve entrapment syndrome (ACNES) is a chronic neuropathic pain syndrome of the abdominal wall caused by entrapment of anterior cutaneous branches of 7 to 12th intercostal nerves along the lateral border of the anterior rectus abdominis fascia causing severe pain and tenderness of the involved dermatome." "" + "retinitis punctata albescens" "" + "lichen planopilaris" "Lichen planopilaris (LPP) is a rare cutaneous variant of lichen planus which affects hair follicles. It may occur on its own or in association with more common forms of lichen planus, usually classical type and/or oral lichen planus." "" + "obsolete rare teratologic disease" "True" "true" + "Roch-Leri mesosomatous lipomatosis" "Roch-Leri mesosomatous lipomatosis is a rare benign autosomal dominant disorder of fat tissue proliferation characterized by the presence of multiple small lipomas of 2 to 5 cm in diameter in the middle third of the body (i.e. the forearms, trunk, and upper thighs), and which are generally painless and can be easily removed by local anesthesia, provided that they are not too numerous or confluent. There have been no further descriptions in the literature since 1984." "" + "orbital leiomyoma" "Orbital leiomyoma is a rare benign smooth muscle tumor arising from the walls of orbital vessels characterized by its slow growth and well encapsulated nature. It is usually located in an extraconal position, commonly manifesting with painless proptosis. The tumor is composed of spindle cells arranged in a fibrous stroma rich in dilated sinusoidal capillaries. The nuclei of tumor cells are oval with blunted ends and there are no mitotic figures. Orbital leiomyoma when excised has excellent prognosis for vision and life. One case of orbital leiomyosarcoma that possibly represents sarcomatous change in an orbital leiomyoma following radiation treatment has been reported." "" + "obsolete listeriosis" "" "true" + "obsolete rare cutaneous lupus erythematosus" "Cutaneous lupus erythematosus (CLE) is an autoimmune disease that denotes a heterogeneous spectrum of clinical manifestations affecting the skin and can be divided into 4 categories: acute CLE (ACLE); subacute CLE (SCLE); chronic CLE (CCLE; the most diverse form); and intermittent CLE (ICLE). CLE can either occur alone or associated with systemic lupus erythematosus (SLE)." "True" "true" + "Lyell syndrome" "Lyell syndrome is an extended form of toxic epidermal necrolysis characterized by destruction and detachment of the skin epithelium and mucous membranes involving more than 30% of the body surface area." "" + "Wyburn-Mason syndrome" "Wyburn-Mason syndrome or Bonnet-Dechaume-Blanc syndrome is characterized by the association of arteriovenous malformations of the maxilla, retina, optic nerve, thalamus, hypothalamus and cerebral cortex." "" + "benign eyelid neoplasm" "A non-metastasizing neoplasm that arises from the upper or lower eyelid." "" + "Cobb syndrome" "Cobb syndrome is defined by the association of vascular cutaneous (venous or arteriovenous), muscular (arteriovenous), osseous (arteriovenous) and medullary (arteriovenous) lesions at the same metamere or spinal segment. This segmental distribution may involve one or many of the 31 metameres present in humans. Only 16% of the medullary lesions are multiple and have a clearly metameric distribution." "" + "Plummer-Vinson syndrome" "Plummer-Vinson or Paterson-Kelly syndrome presents as a classical triad of dysphagia, iron-deficiency anemia and esophageal webs." "" + "posterior cortical atrophy" "Posterior Cortical Atrophy (PCA) is a rare progressive neurodegenerative disorder with a typical onset between 50-65 years of age characterized by progressive impairment of higher visual processing skills and other posterior cortical functions without any evidence of ocular abnormalities." "" + "corticosteroid-sensitive aseptic abscess syndrome" "Corticosteroid-sensitive aseptic abscesses syndrome is a well-defined entity within the group of autoinflammatory disorders." "" + "sarcocystosis" "Infection of the striated muscle of mammals by parasites of the genus sarcocystis. Disease symptoms such as vomiting, diarrhea, muscle weakness, and paralysis are produced by sarcocystin, a toxin produced by the organism." "" + "obsolete legionellosis" "" "true" + "malakoplakia" "Malakoplakia is a chronic multisystem granulomatous inflammatory disease characterized by the presence of single or multiple soft plaques on various organs of the body." "" + "obsolete pneumococcal meningitis" "" "true" + "obsolete Marfan syndrome" "" "true" + "McCune-Albright syndrome" "McCune-Albright syndrome (MAS) is classically defined by the clinical triad of fibrous dysplasia of bone (FD), cafC)-au-lait skin spots, and precocious puberty (PP)." "" + "peripartum cardiomyopathy" "Peripartum cardiomyopathy (PPCM) is an idiopathic, potentially fatal form of dilated cardiomyopathy that develops during the final month of pregnancy or within five months after delivery." "" + "cold agglutinin disease" "Cold agglutinin disease is a type of autoimmune hemolytic anemia defined by the presence of cold autoantibodies (autoantibodies which are active at temperatures below 30B0C)." "" + "SUNCT syndrome" "SUNCT syndrome (Short-lasting Unilateral Neuralgiform headache attacks with Conjunctival injection and Tearing) is a primary headache disorder characterized by unilateral trigeminal pain that occurs in association with ipsilateral cranial autonomic symptoms (conjunctival injection and tearing)." "" + "obsolete rare hepatic disease" "Rare liver disease." "True" "true" + "medial condensing osteitis of the clavicle" "" + "monosomy 21" "Monosomy 21 is a chromosomal anomaly characterized by the loss of variable portions of a segment of the long arm of chromosome 21 that leads to an increased risk of birth defects, developmental delay and intellectual deficit." "" + "total autosomal monosomy" "" + "mucolipidosis type III" "Mucolipidosis III alpha/beta (MLIII alpha/beta) is a lysosomal disorder characterized by progressive slowing of the growth rate from early childhood, stiffness and pain in joints, gradual coarsening of facial features, moderate developmental delay and mild intellectual disability in most patients." "" + "cirrhotic cardiomyopathy" "Cirrhotic cardiomyopathy is the term used to describe a constellation of features indicative of abnormal heart structure and function in patients with cirrhosis. These include systolic and diastolic dysfunction, electrophysiological changes, and macroscopic and microscopic structural changes." "" + "Mazabraud syndrome" "Mazabraud syndrome is a rare primary bone dysplasia characterized by the association of fibrous dysplasia with intramuscular myxomas. Fibrous dysplasia (usually polyostotic, sometimes monostotic) occurs during the growth period and can be asymptomatic or can present with pain, skeletal deformities or fractures while intramuscular myxoma, associated with polyostotic fibrous dysplasia is usually multifocal, typically occuring in the vicinity of skeletal lesions, and presents in adulthood as a painless soft-tissue mass (most commonly in the thigh). Although it is a benign condition, local recurrences of myxomas after incomplete excision and malignant transformation of a fibrous dysplastic lesion into osteogenic sarcoma have been reported." "" + "obsolete mucopolysaccharidosis type 1" "" "true" + "osteoblastoma" "A rare benign bone-forming neoplasm usually arising from the spine. It is a well-circumscribed lytic tumor that varies in size. The tumor is composed of woven bone trabeculae and shares similar histologic characteristics with the osteoid osteoma. Surgical curettage is the treatment of choice. The prognosis is excellent." "" + "neuromuscular junction disease" "Conditions characterized by impaired transmission of impulses at the neuromuscular junction. This may result from disorders that affect receptor function, pre- or postsynaptic membrane function, or acetylcholinesterase activity. The majority of diseases in this category are associated with autoimmune, toxic, or inherited conditions." "" + "obsolete myasthenic syndrome with eye involvement" "" "true" + "furuncular myiasis" "Furuncular myiasis in humans is caused by two species: the Cayor worm (larvae of the African tumbu fly Cordylobia anthropophaga) and the larvae of the human botfly (Dermatobia hominis)." "" + "macrophagic myofasciitis" "" + "McLeod neuroacanthocytosis syndrome" "A form of neuroacanthocytosis and is characterized clinically by a Huntington's disease-like phenotype with an involuntary hyperkinetic movement disorder, psychiatric manifestations and cognitive alterations, and biochemically by absence of the Kx antigen and by weak expression of the Kell antigens." "" + "rhombencephalosynapsis" "Rhombencephalosynapsis (RS) is a rare malformation of the cerebellum characterised by the association of agenesis (total or partial) of the vermis and fusion of the cerebellar hemispheres." "" + "distal myopathy with vocal cord weakness" "Distal myopathy with vocal cord and pharyngeal weakness is an adult-onset, autosomal dominant muscular disease which is characterized by muscle weakness in the feet and hands, combined with vocal or swallowing dysfunction." "" + "argyria" "Argyria is a rare dermatosis, which can be either localized or systemic, that occurs after prolonged contact and absorption of silver containing compounds over a period of years and that is characterized by irreversible blue-gray to gray-black staining of skin, fingernails and/or mucous membranes, most evident on sun exposed areas of the skin. Silver exposure is usually occupational but may also occur through dental amalgams, the ingestion of colloidal silver, acupuncture needles, orthopedic implants and topical medications (such as silver sulfadiazine)." "" + "recurrent respiratory papillomatosis" "Recurrent respiratory papillomatosis is a rare respiratory disease characterized by the development of exophytic papillomas, affecting the mucosa of the upper aero-digestive tract (with a strong predilection for the larynx), caused by an infection with human papilloma virus. Symptoms at presentation may include hoarseness, chronic cough, dyspnea, recurrent upper respiratory infections, pneumonia, dysphagia, stridor, and/or failure to thrive." "" + "pudendal neuralgia" "Pudendal neuralgia (PN) is a chronic neuropathic pain, aggravated by sitting and for which no organic cause can be found by imaging studies. It is often associated with pelvic dysfunction." "" + "potassium-aggravated myotonia" "Potassium-aggravated myotonia (PAM) is a muscular channelopathy presenting with a pure myotonia dramatically aggravated by potassium ingestion, with variable cold sensitivity and no episodic weakness. This group includes three forms: myotonia fluctuans, myotonia permanens, and acetazolamide-responsive myotonia." "" + "pigmented palpebral tumor" "" + "common mesentery" "" + "obsolete isolated growth hormone deficiency" "" "true" + "short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia" "" + "craniorachischisis" "Craniorachischisis is the most severe form of neural tube defect in which both the brain and spinal cord remain open to varying degrees. It is a very rare congenital malformation of the central nervous system." "" + "obsolete pemphigoid gestationis" "" "true" + "obsolete rare epithelial tumor of stomach" "True" "true" + "paraneoplastic pemphigus" "Pemphigus is a group of chronic autoimmune skin diseases characterised by blisters formation on the outer layer of the skin and the mucous membranes. Three clinical forms have been characterised, of which paraneoplastic pemphigus is extremely rare." "" + "schisis association" "Schisis association describes the combination of two or more of the following anomalies: neural tube defects (e.g. anencephaly, encephalocele, spina bifida cystica), cleft lip/palate, omphalocele and congenital diaphragmatic hernia. These anomalies are associated at a higher frequency than would be expected with random combination rates." "" + "polyneuropathy associated with IgM monoclonal gammapathy with anti-MAG" "Polyneuropathy associated with IgM monoclonal gammapathy (MG) with anti-MAG (myelin-associated-glycoprotein) activity is a demyelinating polyneuropathy characterized clinically by sensory ataxia, tremor, paresthesia, and impaired gait." "" + "IgG4-related mediastinitis" "" + "multifocal motor neuropathy" "Multifocal motor neuropathy (MMN) is a rare acquired immune-mediatedneuropathy characterized clinically by a purely motor deficit with conduction block and asymmetric multifocal weakness, fasciculations, and cramping." "" + "acrofacial dysostosis, Kennedy-Teebi type" "Acrofacial dysostosis, Kennedy-Teebi type was reported as a new type of acrofacial dysostosis due to the presence of manifestations not usually seen in Nager syndrome (NS) such as microcephaly, blepharophimosis, microtia, a peculiar beakednose, cleft lip and palate, symmetrical involvement of the thumbs and great toes and developmental delay. It has since been suggested that these features can also be a part of the NS phenotype." "" + "benign idiopathic neonatal seizures" "A rare neonatal epilepsy syndrome characterized by seizures without specific underlying etiology, occurring during the first days of life in infants with an otherwise normal neurological state and no family history of neonatal convulsions. The most commonly partial and clonic seizures usually last for one to three minutes. Repeated seizures may lead to status epilepticus lasting up to 20 hours. Overall, remission rates are high and neurological outcome is favorable." "" + "tolosa-Hunt syndrome" "Tolosa-Hunt syndrome is an ophthalmoplegic syndrome, affecting all age groups, characterized by acute attacks (lasting a few days to a few weeks) of periorbital pain, ipsilateral ocular motor nerve palsies, ptosis, disordered eye movements and blurred vision usually caused by a non-specific inflammatory process in the cavernous sinus and superior orbital fissure. It has an unpredicatable course with spontaneous remission occurring in some and recurrence of attacks in others." "" + "Oroya fever" "An infection that is caused by Bartonella bacilliformis, which is transmitted to humans from infected sandflies. The acute phase (Oroya fever) is characterized by fever, headache, myalgia, enlargement of the lymph nodes, and anemia. The chronic phase (verruga peruana/Peruvian wart) is characterized by benign, eruptive lesions that are bleeding and pruritic, arthralgia, and malaise." "" + "obsolete trench fever" "" "true" + "obsolete leiomyosarcoma" "" "true" + "granulomatous mastitis" "A rare, benign, inflammatory breast disease occurring in premenopausal women shortly after a recent pregnancy. The origin is unknown but it is commonly mistaken for malignancy and sometimes associated with breast feeding and the use of oral contraceptives." "" + "iridocorneal endothelial syndrome" "Iridocorneal endothelial (ICE) syndrome describes a group of progressive corneal proliferative endotheliopathies comprised of Chandler syndrome, Cogan-Reese syndrome and essential iris atrophy, affecting mainly young adult females and characterized by iris holes and atrophy, papillary distortion, anterior synechiae, corneal edema and often with secondary glaucoma and corneal decompensation as complications" "" + "obsolete secondary glaucoma due to a proliferation and differentiation anomaly" "" "true" + "recurrent acute pancreatitis" "Recurrent acute pancreatitis (RAP) is characterized by repeated attacks of acute pancreatitis (AP), which is defined as an acute inflammatory process of the pancreas with variable involvement of other regional tissues or remote organ systems." "" + "obsolete pulmonary blastoma" "" "true" + "hepatoportal sclerosis" "Hepatoportal sclerosis (HPS) is a rare disorder characterized by sclerosis of the intrahepatic portal veins, non-cirrhotic portal hypertension, asymptomatic splenomegaly and recurrent variceal bleeding." "" + "IgG4-related thyroid disease" "Riedel thyroiditis is a fibroinflammatory disorder of the thyroid gland, occuring more frequently in females, characterized a large, hard thyroid mass, and presenting with pressure symptoms (breathing difficulB,ties and dysphagia) or voice hoarseness and aphonia (impingement of recurrent laryngeal nerve). It can often be associated with extracervical fibroinflammatory disorders such as retroperitoneal fibrosis, primary scleroisng cholangitis and autoimmune diseases such as Hashimoto struma, Addison disease, and Biermer disease." "" + "perineural cyst" "Perineural (or Tarlov) cysts are cerebrospinal fluid-filled nerve root cysts most commonly found at the sacral level of the spine, although they can be found in any section of the spine, which can cause progressively painful radiculopathy." "" + "obsolete biotin-responsive basal ganglia disease" "" "true" + "Lhermitte-Duclos disease" "Lhermitte-Duclos disease (LDD) is a very rare disorder characterized by abnormal development and enlargement of the cerebellum, and an increased intracranial pressure." "" + "steroid-resistant nephrotic syndrome" "Nephrotic syndrome, occurring in the pediatric population, in which proteinuria does not normalize with administration of steroids; this condition is unresponsive to a minimum of four weeks administration of oral corticosteroids." "" + "vaginal atresia" "" + "non-histaminic angioedema" "Angioedema is characterized by the occurrence of transitory and recurrent subcutaneous and/or submucosal edemas resulting in swelling and/or abdominal pain." "" + "obsolete mutilating palmoplantar keratoderma with periorificial keratotic plaques" "" "true" + "maternally-inherited progressive external ophthalmoplegia" "" + "short fifth metacarpals-insulin resistance syndrome" "Short fifth metacarpals-insulin resistance syndrome is characterised by bilateral shortening of the fifth fingers and fifth metacarpals. It has been described in several members of one family. Some members of the family also had spherocytosis and insulin resistance. Transmission is autosomal dominant." "" + "Tako-tsubo cardiomyopathy" "Takotsubo cardiomyopathy (TC) is a recently described acute cardiac syndrome that mimics acute myocardial infarction and is characterized by ischemic chest symptoms, an elevated ST segment on electrocardiogram, and elevated levels of cardiac disease markers." "" + "PANDAS" "PANDAS is an acronym for Pediatric Autoimmune Neuropsychiatric Disorders Associated with a group A beta-hemolytic Streptococcal infection and applied to a subgroup of children with obsessive-compulsive disorder (OCD) and/or tic disorders." "" + "obsolete pigmented villonodular synovitis" "" "true" + "sensorineural hearing loss-early graying-essential tremor syndrome" "Sensorineural hearing loss-early graying-essential tremor syndrome is characterised by the combination of sensorineural hearing loss, early greying of scalp hair and adult onset essential tremor." "" + "cutaneous mastocytosis" "Cutaneous mastocytosis is a term referring to a group of diseases characterized by abnormal accumulation and proliferation of skin mastocytes. In some cases (most commonly in adults), cutaneous mastocytosis may occur in association with mast cell infiltration of various extracutaneous organs, in which case the disorder is referred to as systemic mastocytosis." "" + "mast cell sarcoma" "A rare entity characterized by localized but destructive growth of a tumor consisting of highly atypical, immature mast cells.(WHO, 2001)" "" + "extracutaneous mastocytoma" "A localized tumor consisting of mature mast cells. (WHO, 2001) -- 2003" "" + "amoebiasis due to Entamoeba histolytica" "A parasitic disease caused by the protozoa, Entamoeba histolytica, mainly occurring in tropical regions after the ingestion of an amoebic cyst, and resulting in clinical manifestations that may range from an asymptomatic state to amoebic colitis (violent abdominal pain, a painful contracted feeling around the anal sphincter, blood and mucus in the stools but without the presence of fever), or amoebic liver abscesses (fever, chills, abdominal pain, weight loss, hepatomegaly) that can be fatal if not immediately treated. Extraintestinal involvement elsewhere (i.e. thoracic, hepatic) is extremely rare." "" + "segmental odontomaxillary dysplasia" "Segmental odontomaxillary dysplasia (SOD) is a rare disorder characterized by unilateral enlargement of the right or left maxillary alveolar bone and gingiva in the region from the back of the canines to the maxillary tuberosity. In the enlarged region, dental abnormalities such as missing teeth, abnormal spacing and delayed eruption occur." "" + "obsolete Acanthamoeba keratitis" "" "true" + "thrombocytopenia with congenital dyserythropoietic anemia" "Thrombocytopenia with congenital dyserythropoietic anemia (CDA) is a rare hematological disorder, seen almost exclusively in males, characterized by moderate to severe thrombocytopenia with hemorrhages with or without the presence of mild to severe anemia." "" + "X-linked intellectual disability with isolated growth hormone deficiency" "" + "accessory pancreas" "Accessory pancreas is an asymptomatic embryopathy characterized by the presence of pancreatic tissue in other sites of the body such as the splenic pedicle, gonadic pedicles, intestinal mesentery, duodenum wall, upper jejunum, or, more rarely, the gastric wall, ileum, gallbladder or spleen." "" + "pancreatoblastoma" "Pancreatoblastoma is a rare malignant epithelial pancreatic neoplasm, most often found in children, which usually presents with the non-specific symptoms of a palpable mass, vomiting abdominal pain, jaundice, and weight loss/failure to thrive, and is characterized histologically by multiple lines of differentiation (acinar, ductal, mesenchymal, neuroendocrine) and the presence of squamoid nests." "" + "amoebiasis due to free-living amoebae" "Free-living amebae belonging to the genera Acanthamoeba, Balamuthia, Naegleria and Sappinia are important causes of disease in humans and animals. Naegleria fowleri produces an acute, and usually lethal, central nervous system (CNS) disease called primary amebic meningoencephalitis (PAM). Acanthamoeba spp. and Balamuthia mandrillaris are opportunistic free-living amebae capable of causing granulomatous amebic encephalitis (GAE) in individuals with compromised immune systems. Sappinia pedata has been implicated in a case of amebic encephalitis. Naegleria fowleri and Acanthamoeba spp., are commonly found in lakes, swimming pools, tap water, and heating and air conditioning units." "" + "obsolete rare maxillo-facial surgical disease" "True" "true" + "obsolete rare genetic inherited tumor" "True" "true" + "obsolete rare genetic skin disease" "True" "true" + "obsolete rare sleep disorder" "A rare form of sleep disorder." "True" "true" + "obsolete rare deafness" "Any of the forms of hearing loss that have a rare incidence." "True" "true" + "obsolete rare vascular disease" "Any of the forms of vascular disease that have a rare incidence." "True" "true" + "obsolete rare dystonia" "Rare dystonia." "True" "true" + "obsolete lysosomal disease" "" "true" + "obsolete mitochondrial disease" "" "true" + "obsolete rare constitutional aplastic anemia" "" "true" + "obsolete rare parkinsonian disorder" "Rare parkinsonian disorder." "True" "true" + "obsolete rare parathyroid disease and phosphocalcic metabolism anomaly" "True" "true" + "obsolete rare infectious disease" "Rare infectious disease." "True" "true" + "obsolete rare circulatory system disease" "A rare form of cardiovascular disease." "True" "true" + "proteostasis deficiencies" "Disorders caused by imbalances in the protein homeostasis network - synthesis, folding, and transport of proteins; post-translational modifications; and degradation or clearance of misfolded proteins." "" + "idiopathic steroid-sensitive nephrotic syndrome" "Steroid-sensitive nephrotic syndrome (SSNS) is a kidney disease defined by selective proteinuria, hypoalbuminaemia and, on renal biopsy, minimal changes without immunoglobulin deposits." "" + "congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunization" "Congenital membranous nephropathy due to maternal anti-neutral endopeptidase (NEP) alloimmunization (CMNEPA) is a glomerular disease characterized by severe renal failure and nephrotic syndrome at birth, which rapidly improve in the first weeks of life." "" + "obsolete rhabdoid tumor" "" "true" + "obsolete liposarcoma" "" "true" + "hypotrichosis-lymphedema-telangiectasia-renal defect syndrome" "" + "bilateral acute depigmentation of the iris" "Bilateral acute depigmentation of the iris (BADI) is characterized by acute onset of bilateral iris depigmentation, pigment dispersion in the anterior chamber, and heavy pigment deposition in the anterior chamber angle. Patients typically present with acute and usually severe photophobia, blurred vision, red eye, and ocular discomfort or pain with a usually self-limiting clinical course. Cases often occur after a flu-like illness, upper respiratory tract infection, and after the use of oral moxifloxacin. When associated with iris epithelial depigmentation, iris transillumination defects and atonic/mydriatic pupil, the condition is referred to as bilateral acute iris transillumination (BAIT) which has an increased risk of severe intractable rise in intraocular pressure." "" + "Bosley-Salih-Alorainy syndrome" "Bosley-Salih-Alorainy syndrome (BSAS) is characterized by variable horizontal gaze dysfunction, profound and bilateral sensorineural deafness associated commonly with severe inner ear maldevelopment, cerebrovascular anomalies (ranging from unilateral internal carotid artery hypoplasia to bilateral agenesis), cardiac malformation, developmental delay and occasionally autism. The syndrome is caused by homozygous mutations in the HOXA1 gene (7p15.2) and is transmitted in an autosomal recessive manner. The syndrome overlaps clinically and genetically with Athabaskan brain dysfunction syndrome (ABDS,). However unlike ABDS, BSAS does not manifest central hypoventilation." "" + "circumscribed palmoplantar hypokeratosis" "Circumscribed palmoplantar hypokeratosis is an ectodermal dysplasia characterised by circular, well-circumscribed patches of erythematous depressed skin." "" + "warty dyskeratoma" "A rare, usually solitary, benign epithelial tumor of the skin that appears to arise from a hair follicle. It usually develops in the head and neck region as a nodular lesion with a central keratotic plug." "" + "obsolete alopecia universalis" "" "true" + "bullous pemphigoid" "Bullous pemphigoid (BP) is the most common form of autoimmune bullous dermatosis." "" + "Leigh syndrome with cardiomyopathy" "" + "radiation proctitis" "Radiation proctitis is a rare rectal disease directly induced by pelvic radiotherapy and characterized by rectal bleeding, change in bowel habits, tenesmus and sepsis." "" + "vernal keratoconjunctivitis" "Vernal keratoconjunctivitis (VKC) is a chronic, severe allergy that affectsthe surfaces of the eyes. It most commonly occurs in boys living in warm, dry climates. Attacks associated with VKC are common in the spring (hence the name 'vernal') and summer but often reoccur in the winter. Signs and symptoms usually begin before 10 years of age and may include hard, cobblestone-like bumps (papillae) on the upper eyelid; sensitivity to light; redness; sticky mucus discharge; andinvoluntary blinking or spasms of the eyelid (blepharospasm).The condition usually subsides at the onset of puberty. It is caused by ahypersensitivity (allergic reaction)to airborne-allergens. Management focuses on preventing 'flare ups' and relieving the symptoms of the condition." "" + "post-transplant lymphoproliferative disease" "Post-transplant lymphoproliferative disorder (PTLD) is a polyclonal (benign) or clonal (malignant) proliferation of lymphoid cells that develops as a consequence of immunosuppression in a recipient of a solid organ or bone marrow allograft. PTLDs comprise a spectrum ranging from early, Epstein-Barr virus (EBV)-driven polyclonal lymphoid proliferations to EBV-positive or EBV- negative lymphomas of predominantly B-cell or less often T-cell type. (WHO, 2001)" "" + "immunodeficiency-associated lymphoproliferative disease" "" + "obsolete adult acute respiratory distress syndrome" "" "true" + "obsolete meconium aspiration syndrome" "" "true" + "bronchopulmonary dysplasia" "Bronchopulmonary dysplasia is a chronic respiratory disease that results from complications related to lung injury during the treatment of infant acute respiratory distress syndrome in low-birth-weight premature infants or from abnormal lung development in older infants. Clinical signs are tachypnea, tachycardia and signs of respiratory distress such as intercostal recession, grunting and nasal flaring." "" + "infantile apnea" "Infantile apnea is a cessation of respiratory air flow that may affect newborns or older children because of neurological impairment of the respiratory rhythm or obstruction of air flow through the air passages. The symptoms include cyanosis, pallor or bradycardia and snoring in case of obstructive apnea." "" + "immunodeficiency due to selective anti-polysaccharide antibody deficiency" "Immunodeficiency due to selective anti-polysaccharide antibody deficiency is characterized by normal immunoglobulin levels (including IgG sub-classes) but impaired polysaccharide responsiveness (IPR)." "" + "congenital Epstein-Barr virus infection" "Congenital Epstein-Barr virus (EBV) infection causes no clinical manifestations in the majority of infants. Indeed, the occurrence of congenital infection with EBV has never been demonstrated conclusively and must be very rare. One case have been reported to present after birth, multiple congenital anomalies (micrognathia, cryptorchidism, central cataracts), dystrophy, generalized hypotonia, hepatosplenomegaly, diffuse petechiae and hematomas and multiple areas of metaphysitis of the long bones at birth. A low birth weight was also reported. No specific follow-up of the fetus is recommended following maternal EBV primary-infection." "" + "obsolete rare pulmonary hypertension" "Rare pulmonary hypertension." "True" "true" + "obsolete hemorrhagic disorder due to a constitutional platelet anomaly" "A hemorrhagic disorder due to a platelet anomaly which occurs from birth." "True" "true" + "obsolete rare soft tissue tumor" "Any of the forms of soft tissue neoplasm that have a rare incidence." "True" "true" + "neuromyelitis optica" "Neuromyelitis optica (NMO) and NMO spectrum disorders are inflammatory demyelinating diseases of the central nervous system characterized mainly by attacks of uni- or bilateral optic neuritis (ON) and acute myelitis." "" + "autoimmune/inflammatory optic neuropathy" "" + "retinal capillary malformation" "Retinal cavernous hemangioma is a rare, benign, usually unilateral retinal vascular hamartoma that in most cases is asymptomatic but in some patients may present with blurred vision or floaters and that is characterized by the presence of grape-like vacuoles." "" + "dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome" "Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome is characterised by the association of dentinogenesis imperfecta, delayed tooth eruption, facial dysmorphology, small stature, sensorineural hearing loss and mild intellectual deficit. It has been described in two brothers born to consanguineous parents. Transmission is autosomal recessive." "" + "benign exophthalmos syndrome" "Benign exophthalmos syndrome is characterised by slowly progressive unilateral exophthalmos and ipsilateral mucosal turbinate hypertrophy, without intraorbital or intranasal lesions." "" + "Sandifer syndrome" "Sandifer syndrome is a paroxysmal dystonic movement disorder occurring in association with gastro-oesophageal reflux, and, in some cases, hiatal hernia." "" + "renal nutcracker syndrome" "A rare, syndromic renal disease characterized by the entrapment of left renal vein (LRV) between the superior mesenteric artery (SMA) and the abdominal aorta, resulting in increased luminal pressure, renal hilar varices, hematuria and, at the microscopic level, rupture of thin-walled veins into the collecting system in renal fornices." "" + "obsolete disseminated peritoneal leiomyomatosis" "" "true" + "Rh deficiency syndrome" "The Rh deficiency syndrome, also known as Rh-null syndrome, is a blood disorder where people have red blood cells (RBCs) lacking all Rh antigens. The Rh antigens maintain the integrity of the RBC membrane and therefore, RBCs which lack Rh antigens have an abnormal shape. There are two types of Rh deficiency syndrome: The regulator type is associated with many different changes (mutations) in the RHAG gene. The amorph type is caused by inactive copies of a gene (silent alleles) at the RH locus. As a result, the RBCs do not express any of the Rh antigens. The absence of the Rh complex alters the RBC shape, increases its tendency to break down (osmotic fragility), and shortens its lifespan, resulting in a hemolytic anemia that is usually mild. These patients are at risk of having adverse transfusion reactions because they may produce antibodies against several of the Rh antigens and can only receive blood from people who have the same condition. Rh deficiency syndrome is inherited in an autosomal recessive manner. Management is individualized according to the severity of hemolytic anemia." "" + "silent sinus syndrome" "Silent sinus syndrome is characterised by adult-onset progressive enophthalmos due to collapse of some or all of the maxillary sinus walls." "" + "CANOMAD syndrome" "CANOMAD syndrome (Chronic Ataxic Neuropathy, Ophthalmoplegia, Monoclonal IgM protein, cold Agglutinins and Disialosyl antibodies) is a rare chronic immune-mediated demyelinating polyneuropathy." "" + "obsolete rare central nervous system or retinal vascular disease" "True" "true" + "cancer-associated retinopathy" "Cancer associated retinopathy (CAR) is a paraneoplastic disease of the eye associated with the presence of extraocular malignancy and circulating autoantibodies against retinal proteins." "" + "benign paroxysmal torticollis of infancy" "Benign paroxysmal torticollis of infancy (BPTI) is a rare functional disorder characterised by recurrent episodes of torticollic posturing of the head (inclination or tilting of the head to one side) in healthy children." "" + "psychogenic movement disorders" "Psychogenic movement disorders (PMD) are movement disorders that cannot be attributed to any known structural or neurochemical diseases, but represent the manifestation of an underlying psychiatric illness or malingering. Most cases of PMD fall in the psychiatric diagnostic category of conversion disorders of the motor subtype." "" + "obesity due to melanocortin 4 receptor deficiency" "Melanocortin 4 receptor (MC4R) deficiency is the commonest form of monogenic obesity identified so far. MC4R deficiency is characterised by severe obesity, an increase in lean body mass and bone mineral density, increased linear growth in early childhood, hyperphagia beginning in the first year of life and severe hyperinsulinaemia, in the presence of preserved reproductive function." "" + "obsolete catecholamine-producing tumor" "Catecholamine-producing tumors may arise in the adrenal medulla (pheochromocytomas) or in extraadrenal chromaffin cells (secreting paragangliomas)." "" "true" + "pili bifurcati" "Pili bifurcati is an uncommon transitory hair shaft dysplasia characterized by segmental duplication of the hair shaft: a ramification generates two parallel branches which fuse to form a single shaft again. Each branch is covered by its own cuticle." "" + "pneumocystosis" "Human pneumocystosis is caused by an infectious agent, which (after recent nomenclature and taxonomy revisions) is now classed as the fungus Pneumocystis jiroveci. The prevalence is unknown. Pneumocystis jiroveci is an opportunistic infectious agent, developing in immunosuppressed patients. It is an air-borne infection, localised to the lungs. However, extrapulmonary involvement is seen in AIDS patients. The disease manifests progressively with coughing, respiratory problems (dyspnea) and fever, followed by acute respiratory insufficiency and death within a few weeks in untreated cases. The most reliable diagnostic method is bronchoalveolar lavage. The treatment of choice is cotrimoxazole." "" + "idiopathic acute eosinophilic pneumonia" "Idiopathic acute eosinophilic pneumonia (IAEP) is an eosinophilic pneumonia of undetermined etiology that is characterized by acute febrile hypoxic respiratory failure associated with diffuse radiographic infiltrates and pulmonary eosinophilia, but without concurring allergy or infection." "" + "continuous spikes and waves during sleep" "Continuous spikes and waves during sleep (CSWS) is a rare epileptic encephalopathy of childhood characterized by seizures, an electroencephalographic (EEG) pattern of electrical status epilepticus in sleep (ESES) and neurocognitive regression in at least 2 domains of development." "" + "microscopic polyangiitis" "Microscopic polyangiitis (MPA) is an inflammatory, necrotizing, systemic vasculitis that affects predominantly small vessels (i.e. small arteries, arterioles, capillaries, venules) in multiple organs." "" + "relapsing polychondritis" "Relapsing polychondritis (RP) is a rare, clinically heterogeneous, multisystemic inflammatory disease characterized by inflammation of the cartilage and proteoglycan rich structures leading to cartilage damage with joint, ocular and cardiovascular involvement." "" + "global developmental delay-osteopenia-ectodermal defect syndrome" "This syndrome is characterised by the association of global developmental delay, osteopenia and skin anomalies." "" + "tubular renal disease-cardiomyopathy syndrome" "A syndrome characterised by hypokalaemic metabolic alkalosis secondary to a tubulopathy, hypomagnesaemia with hypermagnesuria, severe hypercalciuria and dilated cardiomyopathy." "" + "ossification anomalies-psychomotor developmental delay syndrome" "Ossification anomalies-psychomotor developmental delay syndrome is characterised by hypomineralisation of the cranial bones, thoracic dystrophy, hypotonia, and abnormal and slender long bones due to an alteration in remodelling during ossification." "" + "spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome" "" + "visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome" "Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome is characterised by facial dysmorphology, neuropathic visceral dysmotility, neurogenic megacystis, intracerebral calcifications and developmental delay. It has been described in two siblings (brother and sister) born to consanguineous parents. The girl also had microcephaly and multicystic kidneys. The boy had a more extensive neuropathic visceral disorder, leading clinically to chronic intestinal pseudo-obstruction syndrome (CIPO)." "" + "central neurocytoma" "Central neurocytoma is a very rare brain tumor of young adults (over 100 cases reported worldwide). It is typically found in the lateral ventricles and occasionally in the third ventricle. Symptoms are those of increased intracranial pressure: headache, nausea and vomiting, drowsiness, vision problems and mental changes. Total removal of the tumor is the therapy of choice. Post-operative prognosis is generally good." "" + "obsolete paracoccidioidomycosis" "" "true" + "non-24-hour sleep-wake syndrome" "Non-24-hour sleep-wake disorder (non-24 disorder), also known as hypernychthemeral syndrome, is a circadian rhythm sleep disorder characterized by non-synchronization to a 24-hour day leading to insomnia and daytime sleepiness with sometimes severe associated manifestations." "" + "acquired hemophilia" "Acquired hemophilia A (AHA) is a rare,often severe, hematological autoimmune disorder characterized by spontaneous hemorrhages into the skin, muscles, soft tissues,or mucous membranes." "" + "acquired coagulation factor deficiency" "Deficiency of a coagulation factor that is not caused by genetic alterations. Causes include vitamin K deficiency, amyloidosis, and severe liver disease." "" + "acute ackee fruit intoxication" "Acute ackee fruit intoxication (also referred to as Jamaican vomiting syndrome or sickness) is caused by the ingestion of unripe Blighia sapida fruits. It is a serious intoxication that is frequent in certain countries in the Caribbean and Western Africa. In contrast, it is rare in France and other Western countries. Intoxication leads to toxic hypoglycaemia and inhibition of neoglucogenesis. The hypoglycaemia is caused by the effect of hypoglycin A, which is found in the arils." "" + "angiostrongyliasis" "A foodborne zoonotic disease, endemic to Southeast Asia and the Pacific Islands, caused by the rat lungworm Angiostrongylus cantonensis and that is acquired by the ingestion of the infective larvae on vegetables or in raw or undercooked snails, slugs, land crabs, freshwater shrimps, frogs and lizards. The main feature is eosinophilic meningitis, with clinical manifestations including fever, headache, malaise, fatigue, vomiting, rhinorrhea, blurred vision, diplopia, cough, stiff neck, enteritis, constipation and paraesthesia due to the movement of the worms from the intestines to the lungs, central nervous system and eyes. In severe cases without treatment, coma and death can occur." "" + "cholesteryl ester storage disease" "Cholesteryl ester storage disease (CESD) is a very rare, late-onset, genetic endocrine disease characterized by deficient or inactive lysosomal acid lipase (LAL) causing lipid build-up, which leads to atherosclerosis, hepatomegaly, splenomegaly, progressive liver disease, and malabsorption." "" + "oligocone trichromacy" "Oligocone trichromacy is a rare non-progressive form of cone photoreceptor dysfunction characterised by reduced visual acuity, normal retinal appearance, absent or reduced cone responses on electroretinography but normal colour vision." "" + "brain malformation-congenital heart disease-postaxial polydactyly syndrome" "Goossens-Devriendt syndrome is characterised by intrauterine growth retardation, a congenital heart defect, postaxial polydactyly, a brain malformation, abnormal hair with temporal balding, and marked facial dysmorphism. It has been reported in two siblings from unrelated parents. One of the siblings died and the surviving patient showed postnatal growth retardation and severe developmental delay." "" + "angioosteohypotrophic syndrome" "Angioosteohypotrophic syndrome is a rare, congenital, vascular anomaly syndrome characterized by venous or, on occasion, arterial malformations which lead to soft tissue hypertrophy and bone hypoplasia. Affected limb is generally shortened, highly deformed, painful and edematous and associates bone and muscle hypotrophy. Single parts, or multiple small parts, of limbs are typically affected but more extensive involvement, including complete extremity, shoulder girdle and axilla, has been reported." "" + "tropical endomyocardial fibrosis" "Tropical endomyocardial fibrosis is a restrictive cardiopathy, occuring almost exclusively in children and young adults in tropical and subtropical regions, characterized by endocardial fibrosis, affecting the apices and the inflow tract of the right or left ventricle (or both) and manifesting with a restrictive cardimyopathy and atrioventricular regurgitation leading to severe pulmonary hypertension, very high systemic venous pressure and congestive cardiac failure. Suspected etiologies include helminth and protozoal infestation and malnutrition." "" + "Loeffler endocarditis" "Loeffler's endocarditis is a rare restrictive cardiomyopathy characterized by hypereosinophilia and fibrous thickening of the endocardium, with usually large thrombi against the ventricle walls, that can lead to cardiovascular complications such as heart failure and thromboembolism. It manifests with symptoms like edema, fatigue and shortness of breath. It is usually secondary to eosinophil-associated tissue damage and is associated with idiopathic hypereosinophilic syndrome, chronic eosinophilic leukemia, carcinoma, or lymphoma." "" + "primary progressive freezing gait" "Primary progressive freezing gait is a rare, heterogeneous, progressively incapacitating neurodegenerative disease characterized by freezing of gait (usually during the first 3 years), later associating postural instability, eventually resulting in a wheelchair-bound state. Other features may include mild bradykinesia, rigidity, postural tremor, hyperreflexia, speech disorder and dementia. The disease is unresponsive to dopaminergic treatments." "" + "obsolete pseudoxanthoma elasticum" "" "true" + "6q terminal deletion syndrome" "6q terminal deletion syndrome is marked by a characteristic facial dysmorphism, short neck and psychomotor retardation, generally associated with a range of non-specific malformations." "" + "obsolete strongyloidiasis" "" "true" + "immunoglobulin a vasculitis" "SchC6nlein-Henoch purpura (SHP) is a systemic IgA vasculitis that affects small vessels. It is characterized by skin purpura, arthritis, and abdominal and/or renal involvement." "" + "pyomyositis" "Pyomyositis (PM) is a rare primary bacterial infection of the skeletal muscle, usually resulting from hematogenous spread or due to muscle injury, and characterized by pain and tenderness in the affected muscle, fever and abscess formation." "" + "rabies" "Rabies is a viral zoonosis leading to a fatal encephalopathy if not treated." "" + "obsolete infantile Refsum disease" "Infantile Refsum disease (IRD) is the mildest variant of the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD- ZSS), characterized by hypotonia, retinitis pigmentosa, developmental delay, sensorineural hearing loss and liver dysfunction. Phenotypic overlap is seen between IRD and neonatal adrenoleukodystrophy (NALD)." "" "true" + "odontoleukodystrophy" "Leukodystrophy with oligodontia is characterised by progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive." "" + "auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome" "The association of auricular abnormalities and cleft lip with or without cleft palate has been described in two siblings. One sibling had postauricular pits, profound myopia, nystagmus and retinal pigment abnormalities. The second sibling was a fetus (gestational age: 23 weeks) with severe cleft lip, cleft palate and external ear abnormalities." "" + "monosomy 9q22.3" "Interstitial 9q22.3 microdeletion is associated with a phenotype including macrocephaly, overgrowth and trigonocephaly. Psychomotor delay, hyperactivity and distinctive facial features were also observed. It has been described in two unrelated children." "" + "X-linked intellectual disability" "An X-linked intellectual deficiency in which not enough information is known, reported or published to indicate whether a gene causes non-syndromic or syndromic presentations." "" + "obsolete ankylostomiasis" "" "true" + "obsolete rhabdomyosarcoma" "" "true" + "Q fever" "A bacterial infection caused by Coxiella burnetii. It is transmitted to humans by the inhalation of infected air particles or contact with fluids and feces of infected animals. Signs and symptoms include the abrupt onset of fever, headache, myalgias, and weakness." "" + "juvenile polyposis of infancy" "Juvenile polyposis of infancy (JPI) is the most severe form of juvenile gastrointestinal polyposis and is characterized by pancolonic hamartomatous polyposis from stomach to rectum, diagnosed in the first two years of life." "" + "AKT2-related familial partial lipodystrophy" "" + "acquired generalized lipodystrophy" "Acquired generalized lipodystrophy belongs to a group of lipodystrophic syndromes characterized by loss of adipose tissue, and is a syndrome of insulin resistance that leads to increased cardiovascular risk. Acquired generalized lipodystrophy is related to a selective loss of subcutaneous adipose tissue occurring exclusively at the extremities (face, legs, arms, palms and sometimes soles)." "" + "localized lipodystrophy" "Localised lipodystrophies are characterised by loss of subcutaneous tissue from small regions of the body." "" + "hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome" "Hereditary inclusion body myopathy type 3 is characterised by congenital joint contractures (normalizing during early childhood), external ophthalmoplegia, and proximal muscle weakness. In adult cases, the muscular weakness is progressive." "" + "Foix-Alajouanine syndrome" "Foix-Alajouanine syndrome, also called subacute ascending necrotising myelitis, results from chronic congestion of the extrinsic pial veins of the spinal cord and of the intrinsic subpial network. It is characterised by progressive ascending deficit over a period of several months or years." "" + "folinic acid-responsive seizures" "Folinic acid-responsive seizures is a very rare neonatal epileptic encephalopathy disorder characterized clinically by myoclonic and clonic, or clonic seizures associated with apnea occurring several hours to 5 days after birth and responding to folinic acid." "" + "sympathetic ophthalmia" "Sympathetic ophthalmia (SO) is a bilateral granulomatous anterior uveitis usually occurring within the three months following trauma or a surgical procedure involving one eye." "" + "interstitial granulomatous dermatitis with arthritis" "Interstitial granulomatous dermatitis with arthritis is a rare rheumatologic disease characterized by the occurrence of inflammatory arthritis in association with large, erythematous, symmetrical cutaneous lesions (ranging from typical, but infrequent, cord-like lesions on the flanks to more common violaceous plaques on the trunk and limbs) featuring a typical histologic infiltrate mainly constituted of histiocytes." "" + "myxofibrosarcoma" "A malignant fibroblastic neoplasm arising from the soft tissue. It is characterized by the presence of spindle-shaped cells, cellular pleomorphism, thin-walled blood vessels, fibrous septa, and myxoid stroma." "" + "acute interstitial pneumonia" "Acute interstitial pneumonia (AIP), also referred to as Hamman-Rich syndrome, is a rapidly progressive and histologically distinct form of idiopathic interstitial pneumonia." "" + "respiratory bronchiolitis-interstitial lung disease syndrome" "Respiratory bronchiolitis - interstitial lung disease is a mild inflammatory pulmonary disorder developed by cigarette smokers and characterized by shortness of breath and cough, pulmonary function abnormalities of mixed restrictive and obstructive lung disease and high resolution CT scanning showing centrilobular micronodules, ground glass opacities and peribronchiolar thickening." "" + "trichodysplasia-amelogenesis imperfecta syndrome" "The association of amelogenesis imperfecta and a microscopically typical hair dysplasia has been found in several members of a family in two generations. Transmission is X-linked." "" + "sparse hair-short stature-skin anomalies syndrome" "Sparse hair-short stature-skin anomalies syndrome combines short stature, sparse hair, skin hyperpigmentation and urticaria-like reactions on the hands and arms. An upper central incisor, hypoplastic thumbs and/or palmoplantar hyperkeratosis may also be present. It is thought to be a rare form of ectodermal dysplasia and has been described at least once in a mother and her three sons. Transmission is autosomal dominant, or X-linked." "" + "DEND syndrome" "DEND syndrome is a very rare, generally severe form of neonatal diabetes mellitus (NDM) characterized by a triad of developmental delay, epilepsy, and neonatal diabetes." "" + "permanent neonatal diabetes mellitus" "Permanent neonatal diabetes mellitus (PNDM) is a monogenic form of neonatal diabetes (NDM) characterized by persistent hyperglycemia within the first 12 months of life in general, requiring continuous insulin treatment." "" + "Bickerstaff brainstem encephalitis" "Bickerstaff's brainstem encephalitis (BBE) is a rare post-infectious neurological disease characterized by the association of external ophthalmoplegia, ataxia, lower limb arreflexia, extensor plantar response and disturbance of consciousness (drowsiness, stupor or coma)." "" + "autoimmune encephalitis" "Inflammation of the brain secondary to an immune response triggered by the body itself." "" + "Japanese encephalitis" "A disease due to a virus transmitted by an arthropod)." "" + "cutaneous neuroendocrine carcinoma" "Cutaneous neuroendocrine carcinoma is a primary cutaneous cancer arising from a subset of skin neuroendocrine cells (Merkel cells, giving the name Merkel cell carcinoma (MCC))." "" + "obsolete inborn disorder of urea cycle metabolism and ammonia detoxification" "" "true" + "inborn disorder of biogenic amine metabolism and transport" "" + "obsolete creatine deficiency syndrome" "" "true" + "carbohydrate transport disease" "A disease that has its basis in the disruption of carbohydrate transport." "" + "glycerol metabolism disease" "A disease that has its basis in the disruption of glycerol metabolic process." "" + "purine metabolism disease" "A disease that has its basis in the disruption of purine nucleobase metabolic process." "" + "pyrimidine metabolism disease" "A disease that has its basis in the disruption of pyrimidine nucleobase metabolic process." "" + "obsolete glycogen storage disease" "" "true" + "obsolete combined hyperlipidemia (including acquired and inherited)" "" "true" + "obsolete other metabolic disease with skin involvement" "True" "true" + "mild phenylketonuria" "Mild phenylketonuria is a rare form of phenylketouria (PKU), an inborn error of amino acid metabolism, characterized by symptoms of PKU of mild to moderate severity." "" + "classic phenylketonuria" "Classical phenylketonuria is a severe form of phenylketonuria (PKU) an inborn error of amino acid metabolism characterized in untreated patients by severe intellectual deficit and neuropsychiatric complications." "" + "alpha-N-acetylgalactosaminidase deficiency type 3" "Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 3 is a rare clinically heterogeneous type of NAGA deficiency with developmental, neurologic and psychiatric manifestations presenting at an intermediate age." "" + "SAPHO syndrome" "SAPHO syndrome (acronym for Synovitis, Acne, Pustulosis, Hyperostosis and Osteitis) is an auto-inflammatory disease, mainly characterized by the association of neutrophilic cutaneous involvement and chronic osteomyelitis." "" + "vitamin B12-unresponsive methylmalonic acidemia type mut-" "Vitamin B12-unresponsive methylmalonic acidemia type mut- is an inborn error of metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12." "" + "obsolete porokeratosis" "" "true" + "obsolete other epidermal disorder" "True" "true" + "obsolete other genetic epidermal disease" "True" "true" + "epidermal appendage anomaly" "" + "obsolete alopecia" "" "true" + "nail anomaly" "A epidermal appendage anomaly that involves the nail." "" + "genetic nail anomaly" "An instance of nail anomaly that is caused by a modification of the individual's genome." "" + "obsolete rare genetic dermis disorder" "True" "true" + "obsolete rare urticaria" "Rare urticaria." "True" "true" + "obsolete mucopolysaccharidosis with skin involvement" "" "true" + "obsolete rare photodermatosis" "True" "true" + "generalized junctional epidermolysis bullosa non-Herlitz type" "Generalized non-Herlitz-type junctional epidermolysis bullosa is a form of non-Herlitz-type junctional epidermolysis bullosa (JEB-nH) characterized by generalized skin blistering, atrophic scarring, nail dystrophy or nail absence, and enamel hypoplasia, with extracutaneous involvement." "" + "junctional epidermolysis bullosa inversa" "Junctional epidermolysis bullosa inversa is a rare severe subtype of junctional epidermolysis bullosa (JEB) characterized by blistering and erosions confined to intertriginous skin sites, the esophagus, and vagina." "" + "late-onset junctional epidermolysis bullosa" "Late-onset junctional epidermolysis bullosa is a subtype of junctional epidermolysis bullosa (JEB) occurring in childhood or young adulthood." "" + "recessive dystrophic epidermolysis bullosa inversa" "Recessive dystrophic epidermolysis bullosa inversa (RDEB-I) is rare subtype of dystrophic epidermolysis bullosa (DEB) characterized by blisters and erosions which are primarily confined to intertriginous skin sites, the base of the neck, the uppermost back, and the lumbosacral area." "" + "woolly hair nevus" "Woolly hair nevus (WHN) is a rare non-familial hair anomaly characterized by kinky, tightly coiled, and hypopigmented fine hair with an average diameter of 0.5 cm, noted, since birth or during the first two years of life, in a localized circumscribed distribution on the scalp. Occassionally, WHN grows in areas observed to be alopecic in the neonatal period. WHN can be associated with features like ocular defects (persistent pupillary membrane, retinal defects), precocious puberty, and epidermal nevi." "" + "cutaneous mastocytoma" "Cutaneous mastocytoma is a form of cutaneous mastocytosis (CM) generally characterized by the presence of a solitary or multiple hyperpigmented macules, plaques or nodules associated with abnormal accumulation of mast cells in the skin." "" + "follicular atrophoderma-basal cell carcinoma" "" + "inflammatory linear verrucous epidermal nevus" "" + "verrucous nevus" "A benign wart-like, pigmented skin lesion appearing on various parts of the body at birth or early in childhood, usually in linear groupings." "" + "acanthokeratolytic verrucous nevus" "" + "atypical Werner syndrome" "A heterogeneous group of cases that are clinically diagnosed as Werner syndrome (WS) but do not carry WRN gene mutations. Similar to classical WS caused by WRN mutations, patients generally exhibit an aged appearance and common age-related disorders at earlier ages compared to the general population." "" + "pemphigus vegetans" "" + "pemphigus erythematosus" "Pemphigus erythematosus is a rare superficial pemphigus disease characterized clinically by well-demarcated, localized, erythematous, scaly, hyperkeratotic, crusted plaques, with frequent butterfly distribution over the malar area of the face (but also commonly involving trunk and scalp, and less frequently the extremities, with a photoexposed distribution). Histologically, granular deposits along the dermal-epidermal junction, in addition to intercellular deposition in the upper epidermis, are observed." "" + "pemphigus foliaceus" "Pemphigus foliaceous is a rare superficial pemphigus disease characterized by multiple, pruritic, scaly, crusted cutaneous erosions, with flaky circumscribed patches, localized mostly on the face, scalp, trunk and extremities, often presenting an erythematous base. Mucosal involvement is rarely observed." "" + "phakomatosis cesioflammea" "" + "phakomatosis cesiomarmorata" "" + "phakomatosis spilorosea" "" + "macrocystic lymphatic malformation" "A lymphangioma characterized by the presence of thin-walled cavernous lymphatic spaces." "" + "microcystic lymphatic malformation" "" + "pili gemini" "Pili gemini defines a situation where the papilla's tip of a hair follicle splits during the anagen phase and consequently grows two hair shafts emerging through a single pilary canal. A papilla tip that divides in several tips will produce several hair shafts, a situation named pili multigemini. Pili gemini or multigemini can occur in each type of hair." "" + "obsolete rare form of salmonellosis" "" "true" + "autosomal recessive hyperinsulinism due to SUR1 deficiency" "" + "autosomal recessive hyperinsulinism due to Kir6.2 deficiency" "" + "mild hyperphenylalaninemia" "Mild hyperphenylalaninemia (HPA) is a rare form of phenylketonuria, an inborn error of amino acid metabolism, characterized by mild symptoms of HPA." "" + "Gardner syndrome" "Gardner syndrome is a severe form of familial adenomatous polyposis characterized by multiple adenomas in the colon and rectum associated with prominent extracolonic features including osteomas and multiple skin and soft tissue tumors." "" + "47,XYY syndrome" "47, XYY syndrome is a sex chromosome aneuploidy where males receive an additional Y chromosome, and is characterized clinically by tall stature evident from childhood, macrocephaly, facial features (mild hypertelorism, low set ears, a mildly flat malar region), speech delay and an increased risk for social and emotional difficulties, attention deficit hyperactive disorder and autistic spectrum disorder." "" + "obsolete mixed connective tissue disease" "" "true" + "antisynthetase syndrome" "Antisynthetase (AS) syndrome is a clinically heterogeneous form of idiopathic inflammatory myopathy characterized by myositis, arthralgia, Raynaud phenomenon, mechanic hands, interstitial lung disease (ILD), and serum autoantibodies to aminoacyl transfer RNA synthetases (anti-ARS)." "" + "shigellosis" "Shigellosis is a bacterial infection leading to dysentery and is caused by Shigella, which are small, ubiquitous Gram-negative bacteria belonging to the enterobacteria family. There are four species: S. dysenteriae, S. flexneri, S. boydii and S. sonnei, all of which cause bacillary dysentery and are strictly limited to human hosts." "" + "sialidosis type 1" "Sialidosis type 1 (ST-1) is a very rare lysosomal storage disease, and is the normosomatic form of sialidosis, characterized by gait abnormalities, progressive visual loss, bilateral macular cherry red spots and myoclonic epilepsy and ataxia, that usually presents in the second to third decade of life." "" + "obsolete Ehlers-Danlos syndrome with periventricular heterotopia" "Ehlers-Danlos syndrome (EDS) with periventricular heterotopia is a newly described variant of EDS. Affected patients exhibit features consistent with EDS, including joint hypermobility, skin fragility and aortic dilatation. They also have periventricular heterotopia (PH), which is characterized by focal epilepsy usually beginning in the second decade of life. Intelligence is generally normal. Some patients also have cardiac anomalies such as patent ductus arteriosus, bicuspid aortic valves, or aneurismal dilatation of the sinus of Valsalva." "" "true" + "obsolete sporotrichosis" "" "true" + "adult-onset Still disease" "A rare inflammatory multisystem disorder characterized clinically by fever of unknown origin, arthralgia or arthritis, hyperleucocytosis, and typical skin rash." "" + "congenital narrowing of cervical spinal canal" "Congenital cervical spinal stenosis is a rare neurological disease characterized by a congenital narrowing of the bony anatomy of the cervical spinal canal (saggital diameter <14mm), predisposing the individual to symptomatic neural compression, such as cramps, paresthesias, pain, muscle hypertonia and weakness, myelopathy and sphincter disturbances." "" + "Rocky mountain spotted fever" "Rocky Mountain spotted fever refers to an infection caused by the bacterium Rickettsia rickettsia. This particular bacterium is carried by certain species of ticks and spread to humans through the bites of infected ticks. Signs and symptoms of the condition generally develop approximately 2 to 14 days following the tick bite and may include fever, rash, headache, muscle pain, chills, and/or confusion. Some affected people may also experience diarrhea, nausea, vomiting, light sensitivity, hallucinations, and/or excessive thirst. Most cases occur in the spring and summer and are found in children. Risk factors for developing the conditioninclude recent hiking or exposure to ticks in an area where the disease is known to occur. Rocky Mountain spotted fever is typically treated with antibiotics (such as doxycycline or tetracycline)." "" + "rickettsialpox" "" + "obsolete boutonneuse fever" "" "true" + "obsolete murine typhus" "" "true" + "pseudotyphus of California" "Pseudotyphus of California is a rare, flea-borne Rickettsial disease caused by a Rickettsia felis infection. Patients can be asymptomatic or can present with unspecific symptoms (such as fever, headache, generalized maculopapular rash, myalgia, arthralgia and, ocasionally, eschar. lymphadenopathy, nausea, vomiting, loss of appetite and abdominal pain. Rarely, serious manifestations may occur and include neurological dysfunction (photophobia, hearing loss, and signs of meningitis) and pulmonary compromise." "" + "scrub typhus" "Scrub typhus is a rare dust mite-borne infectious disease caused by the Orientia tsutsugamushi bacterium and characterized clinically by an eruptive fever which is potentially serious." "" + "bacterial hemorrhagic fever" "A hemorrhagic fever caused by bacteria. Bacterial hemorrhagic disease is rare. One example of a bacterial hemorrhagic disease is scrub typhus." "" + "regional odontodysplasia" "Regional odontodysplasia (ROD) is a localized developmental anomaly of the dental tissues." "" + "florid cemento-osseous dysplasia" "Florid cemento-osseous dysplasia (FCOD) is a rare fibro-osseous lesion in the jaw that predominantly affects middle-aged women of African descent. It is generally asymptomatic or may manifest with pain and gingival swelling. Radiologically, it is characterized by multiple dense lobulated bone lesions, often symmetrically located in various regions of the jaw." "" + "vulvovaginal gingival syndrome" "" + "solitary bone cyst" "A solitary bone cyst is a benign non-epithelial bone cavity that is asymptomatic and that is found most commonly in the second decade of life by chance. The long bones are most often affected, but cases involving the jaw bone have been reported." "" + "desmoplastic small round cell tumor" "Desmoplastic small round cell tumor (DSRCT) is an aggressive soft tissue cancer that typically arises in serous lined surfaces of the abdominal or pelvic peritoneum, and spreads to the omentum, lymph nodes and hematogenously disseminates especially to the liver. Extraserous primary location has been reported in exceptional cases." "" + "CAMOS syndrome" "CAMOS syndrome is characterised by the association of a non-progressive congenital ataxia, severe intellectual deficit, optic atrophy and structural anomalies of the skin vessels. It has been described in five children from a large consanguineous Lebanese family. Short stature and microcephaly were also reported. Transmission is autosomal recessive." "" + "Mycoplasma encephalitis" "Mycoplasma encephalitis is a rare infectious encephalitis characterized by an acute onset of neurological signs and symptoms (e.g. altered consciousness, seizures, headaches, meningeal signs, behavioral changes) due to bacterial infection by Mycoplasma pneumoniae. Patients typically present unspecific signs and symptoms, such as fever, nausea, vomiting, fatigue, prior to onset of neurological manifestations and frequently have a history of a respiratory tract infection (e.g. pneumonia, bronchiolitis, pharyngitis)." "" + "la Crosse encephalitis" "La Crosse encephalitis (CE) is an acute arboviral infection caused by the La Crosse bunyavirus transmitted by an infected mosquito, usually observed in infants, children or adolescents (6 months to 16 years), and characterized by the onset of flulike symptoms such as fever, chills, nausea, vomiting, headache, and abdominal pain, followed by the onset of encephalitis characterized by somnolence, obtundation, and even seizures, focal neurologic signs (asymmetrical reflexes or Babinski signs), paralysis or even coma. CE can leave sequelae such as residual epilepsy and neurocognitive deficits." "" + "obsolete st. Louis encephalitis" "" "true" + "western equine encephalitis" "An acute arboviral infection caused by an alphavirus of the Togaviridae family transmitted by an infected mosquito, that more frequently affects children and that is characterized by the presence of mild flulike symptoms (fever, chills, headache, nausea, vomiting, and anorexia) but that can progress to weakness, altered mental status, photophobia, mental confusion, seizures, somnolence, coma and/or even death. The disease can leave neurological sequelae, mainly in infants and children, such as seizures, spasticity or behavioral disorders." "" + "obsolete eastern equine encephalitis" "" "true" + "obsolete Colorado tick fever" "" "true" + "encephalitis lethargica" "A form of encephalitis, the etiology of which is uncertain, that is characterized by lethargy and headache." "" + "steroid-responsive encephalopathy associated with autoimmune thyroiditis" "" + "progressive rubella panencephalitis" "A neurological disorder arising from primary rubella infection of the brain, characterized by chronic encephalitis. It is believed to be due to a persistence or reactivation of rubella virus infection. It usually manifesting between 8–19 years of age." "" + "rubella encephalitis" "" + "macrostomia-preauricular tags-external ophthalmoplegia syndrome" "Macrostomia-preauricular tags-external ophthalmoplegia syndrome combines macrostomia or abnormal mouth contour, preauricular tags, uni- or bilateral ptosis and external ophthalmoplegia. It was described in nine members of a Brazilian family. It is a new phenotype belonging to the so-called oculoauriculovertebral spectrum, resulting from a branchial arch anomaly. Transmission is autosomal dominant." "" + "pelvis syndrome" "PELVIS is an acronym defining the association of Perineal hemangioma, External genitalia malformations, Lipomyelomeningocele, Vesicorenal abnormalities, Imperforate anus, and Skin tag. Eleven cases have been reported." "" + "obsolete X-linked recessive intellectual disability-macrocephaly-ciliary dysfunction syndrome" "" "true" + "Susac syndrome" "Susac syndrome (SS) is a rare disorder characterized by the triad of central nervous system (CNS) dysfunction, branch retinal artery occlusions (BRAOs) and sensorineural hearing loss (SNHL). It is presumably due to autoimmune-mediated occlusions of microvessels in the CNS, the retina, and the inner ear." "" + "syringocystadenoma papilliferum" "A benign adnexal neoplasm occurring during childhood or adolescence. It usually presents as a papular lesion or a plaque on the head and neck. It may arise in an organoid nevus such as sebaceous. It is characterized by an endophytic invagination of the epithelium into the dermis. There are dermal cystic spaces present, containing villous projections. Complete excision is curative." "" + "idiopathic malabsorption due to bile acid synthesis defects" "Idiopathic malabsorption due to increased acid bile synthesis is an intestinal disease of unknown etiology characterized by an overproduction of bile acids which leads to chronic watery diarrhea." "" + "Hinman syndrome" "Hinman syndrome (HS) or non-neurogenic neurogenic bladder is a voiding dysfunction of the bladder of neuropsychological origin that is characterized by functional bladder outlet obstruction in the absence of neurologic deficits." "" + "collagen type III glomerulopathy" "Collagen type III glomerulopathy is a rare glomerular disease characterized by abnormal accumulation of type III collagen within the mesangium and subendothelial space of the glomerulus. Clinically it usually manifests with proteinuria (often in the nephrotic range), microscopic hematuria, peripheral edema and/or hypertension. In some cases progression to end-stage renal failure is observed." "" + "unknown leukodystrophy" "" + "desmin-related myopathy with Mallory body-like inclusions" "" + "Isaac syndrome" "Isaac's syndrome is an immune-mediated peripheral motor neuron disorder characterized by continuous muscle fiber activity at rest resulting in muscle stiffness, cramps, myokymia, and pseudomyotonia." "" + "obsolete testicular seminomatous germ cell tumor" "" "true" + "sporadic idiopathic steroid-resistant nephrotic syndrome" "Steroid-resistant, sporadic idiopathic nephrotic syndrome, is a heterogeneous entity. Nephrotic syndrome is characterised by marked proteinuria, with reduced plasmatic levels of albumin, and potentially with oedema." "" + "facial onset sensory and motor neuronopathy" "Facial onset sensory and motor neuronopathy is characterised initially by paraesthesia and numbness in the region of the trigeminal nerve distribution, which later progresses to involve the scalp, neck, upper trunk and upper limbs. Onset of motor manifestations occurs later with cramps, fasciculations, dysphagia, dysarthria, muscle weakness and atrophy. This syndrome has been described in four males and appears to be a slowly progressive neurodegenerative disease." "" + "craniofacial conodysplasia" "Craniofacial conodysplasia is characterised by craniofacial dysplasia, cone-shaped physes of the hands and feet, and neurological manifestations resembling cerebral palsy. It has been described in one family. The syndrome appeared to be transmitted as a dominant trait." "" + "microcephalic osteodysplastic dysplasia, Saul-Wilson type" "A bone development disease characterized by early developmental delay primarily involving speech, distinct facial features, short stature, brachydactyly, clubfoot deformities, cataracts, and microcephaly that has material basis in heterozygous mutation in COG4 on chromosome 16q22.1." "" + "Astley-Kendall dysplasia" "Astley-Kendall dysplasia is a lethal skeletal dysplasia characterized by short limbed dwarfism, osteogenesis imperfecta, and punctate calcification within cartilage. It has been described in less than ten cases." "" + "idiopathic juvenile osteoporosis" "Idiopathic juvenile osteoporosis (IJO) is a primary condition of bone demineralization that presents with pain in the back and extremities, walking difficulties, multiple fractures, and radiological evidence of osteoporosis." "" + "obsolete nodulosis-arthropathy-osteolysis syndrome" "" "true" + "genochondromatosis type 1" "Genochondromatosis is characterized by chondromatosis, typically involving the clavicles, upper end of the humerus, and lower end of the femur. Lesions are bilateral and symmetrical. It has been described four patients from the same family and is transmitted as an autosomal dominant trait. Another disorder, genochondromatosis II, shows strong similarities to genochondromatosis but is characterized by the involvement of the short tubular bones and by normal clavicles. It has been described in one unrelated family. Genochondromatosis II may also be inherited as an autosomal dominant trait. Genochondromatosis has a benign clinical course." "" + "dysspondyloenchondromatosis" "Dysspondyloenchondromatosis is a rare skeletal dysplasia characterized by anisospondyly and multiple enchondromas in vertebrae and the metaphyseal and diaphyseal parts of long tubular bones, leading to kyphoscoliosis and lower limb asymmetry." "" + "ischio-vertebral syndrome" "Ischio-vertebral syndrome is a very rare, poorly-defined bone disease characterized by ischial aplasia or hypoplasia, vertebral anomalies (vertebral malsegmentation, kyphoscoliosis), and in some patients, non-distinctive facial dysmorphism." "" + "BRESEK syndrome" "X-linked mental retardation, Reish type is characterised by Brain anomalies, severe mental Retardation, Ectodermal dysplasia, Skeletal deformities (vertebral anomalies, scoliosis, polydactyly), Ear/eye anomalies (maldevelopment, small optic nerves, low set and large ears with hearing loss) and Kidney dysplasia/hypoplasia (giving the acronym BRESEK syndrome)." "" + "IFAP syndrome with or without BRESHECK syndrome" "An X-linked multiple congenital anomaly disorder with variable severity. The classic triad, which defines IFAP, is ichthyosis follicularis, atrichia, and photophobia. Some patients have additional features, including mental retardation, brain anomalies, Hirschsprung disease, corneal opacifications, kidney dysplasia, cryptorchidism, cleft palate, and skeletal malformations, particularly of the vertebrae, which constitutes BRESHECK syndrome." "" + "fetal and neonatal alloimmune thrombocytopenia" "Fetal and neonatal alloimmune thrombocytopenia (NAIT) is a blood disorder that affects pregnant women and their babies. NAIT was first reported in the literature in 1953 and is estimated to occur in as many as 1 in 1200 live births. NAIT results in the destruction of platelets in the fetus or infant due to a mismatch between the mother's platelets and those of the baby. Certain molecules (antigens) on the surface of the baby's platelets are recognized as foreign by the mother's immune system. The mother's immune system then creates antibodies that attack and destroy the baby's platelets. Though NAIT can occur whenever the mother's blood mixes with that of the baby, it is usually triggered when the mother is exposed to the baby's blood during delivery. Many cases of NAIT are mild. Signs and symptoms may include a low platelet count (thrombocytopenia) and signs of bleeding into the skin such as petechiae and purpura. In the most severe cases, NAIT can cause bleeding episodes that may result in death or long-term disability. Bleeding episodes can occur either during pregnancy or after birth. Management of the infant with neonatal alloimmune thrombocytopenia may include platelet transfusions, ultrasounds, and intravenous immunoglobulin (IVIG). Treatment for pregnant mothers at risk for NAIT may include IVIG and steroids." "" + "X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome" "X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome is characterized by moderate intellectual deficit, bilateral single palmar creases, seizures, variable hypogammaglobulinemia and characteristic features (synophrys, prognathism, and hirsutism). It has been reported in three males from two generations of one family. All underwent progressive neurological deterioration. This syndrome is transmitted as an X-linked trait, and the causative gene is located between Xq21.33 and Xq23." "" + "X-linked intellectual disability-precocious puberty-obesity syndrome" "X-linked intellectual disability-precocious puberty-obesity syndrome is characterised by moderate intellectual deficit and precocious puberty. It has been described in three males from two generations of one Australian family. Morbid obesity was noted in the mothers of the patients. Transmission is X-linked." "" + "X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome" "X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome is characterised by intellectual deficit, epilepsy, facial dysmorphism and progressive joint contractures. It has been described in two boys. Hypotonia and feeding problems at birth were also reported. The mode of transmission is X-linked." "" + "X-linked intellectual disability-macrocephaly-macroorchidism syndrome" "X-linked intellectual disability-macrocephaly-macroorchidism syndrome is characterised by intellectual deficit affecting both sexes, macrocephaly, and macroorchidism in the majority of affected males. It has been described in 12 individuals from two generations of one family. Other males from this family did not display intellectual deficit but did present macroorchidism and macrocephaly. Transmission is X-linked and the causative gene has been localised to the q12-q21 region of the X chromosome." "" + "X-linked intellectual disability, Pai type" "X-linked intellectual disability, Pai type is characterised by the association of dysmorphism with intellectual deficit. It has been described in four generations of one family. Premature death was reported in the affected males. Transmission is X-linked recessive and the causative gene has been localised to the q28 region of the X chromosome." "" + "X-linked intellectual disability, Seemanova type" "X-linked intellectual disability, Seemanova type is characterised by microcephaly, intellectual deficit, growth retardation and hypogenitalism. It has been described in four boys from one family. A characteristic facies and ophthalmologic anomalies were also present and included microphthalmia, microcornea and cataract. Transmission is X-linked." "" + "X-linked intellectual disability, Stevenson type" "An X-linked syndromic intellectual disability characterised by intellectual deficit, hypotonia, absent deep tendon reflexes, tapered fingers and excessive fingerprint arches, genu valgum, a characteristic face and small teeth. It has been described in four males from two generations of one family. The causative gene appears to be located in the q13 region of the X chromosome." "" + "X-linked intellectual disability, Stoll type" "X-linked intellectual disability, Stoll type is characterised by intellectual deficit, short stature and characteristic facies (hypertelorism, prominent forehead, frontal bossing, a broad nasal tip and anteverted nares). It has been described in four males from three generations of the same family. Two females from this family also displayed intellectual deficit and the characteristic facies. Transmission is X-linked." "" + "X-linked intellectual disability-acromegaly-hyperactivity syndrome" "X-linked intellectual disability-acromegaly-hyperactivity syndrome is characterised by severe intellectual deficit, acromegaly and hyperactivity. The syndrome has been described in two half-brothers. Dysarthria, aggressive behaviour, a characteristic facies (an acromegalic and triangular face with a long nose) and macroorchidism were also present. The mother displayed moderate intellectual deficit and milder facial anomalies. Central nervous system anomalies were identified in the two boys: subarachnoid cysts and hyperdensity in the pontine region." "" + "obsolete X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome" "" "true" + "X-linked intellectual disability-corpus callosum agenesis-spastic quadriparesis syndrome" "X-linked intellectual disability-corpus callosum agenesis-spastic quadriparesis syndrome is characterised by intellectual and motor deficit, spastic quadriparesis and agenesis of the corpus callosum, without craniofacial abnormalities or seizures. It has been described in four male members of a family. The mode of inheritance is most likely X-linked recessive." "" + "X-linked neurodegenerative syndrome, Bertini type" "X-linked neurodegenerative syndrome, Bertini type is characterised by generalised hypotonia, psychomotor deficit, congenital ataxia and recurrent bronchopulmonary infections. It has been described in seven males from three generations of a family. Five of them died during the first years of life and the remaining patients developed myoclonic encephalopathy and macular degeneration. The locus has been mapped to Xp22.33-pter." "" + "fried syndrome" "Fried syndrome is a rare X-linked mental retardation (XLMR) syndrome characterized by psychomotor delay, intellectual deficit, hydrocephalus, and mild facial anomalies." "" + "X-linked neurodegenerative syndrome, Hamel type" "X-linked neurodegenerative syndrome, Hamel type is an X-linked neurodegenerative disorder characterised by intellectual deficit, blindness, convulsions, spasticity, mild hypomyelination and early death. It has been described in about ten male members from two generations of one family. The genetic defect responsible for the disorder is located in the pericentromeric region of the X chromosome, Xp11.3-q12." "" + "X-linked intellectual disability-ataxia-apraxia syndrome" "X-linked intellectual disability-ataxia-apraxia syndrome is characterised by ataxia, apraxia, intellectual deficit and/or seizures. It has been described in nine males in two unrelated Danish families. It is transmitted as an X-linked recessive syndrome with partial clinical expression in obligate female carriers." "" + "primitive portal vein thrombosis" "Portal vein thrombosis (PVT) is associated with acute (recent) or chronic (long-standing) thrombosis of the portal system." "" + "systemic-onset juvenile idiopathic arthritis" "Systemic-onset juvenile idiopathic arthritis is marked by the severity of the extra-articular manifestations (fever, cutaneous eruptions) and by an equal sex ratio." "" + "rheumatoid factor-positive polyarticular juvenile idiopathic arthritis" "A category of juvenile idiopathic arthritis defined by the presence of arthritis affecting five or more separate joints during the first six months of disease, with positive serologic testing for rheumatoid factor." "" + "psoriasis-related juvenile idiopathic arthritis" "Childhood arthritis typically associated with psoriasis." "" + "enthesitis-related juvenile idiopathic arthritis" "Enthesitis-related juvenile idiopathic arthritis is a subtype of juvenile idiopathic arthritis that is characterized by both arthritis and inflammation of an enthesitis site (the point at which a ligament, tendon, or joint capsule attaches to the bone). Signs and symptoms generally develop in late childhood or early adolescence and include pain, tenderness, and swelling in joints and at the enthesis. The knee and the back of the ankle (at the Achilles tendon) are the most commonly affected parts of the body. The underlying cause of enthesitis-related juvenile idiopathic arthritis is currently unknown (idiopathic). It is very rare for more than one member of a family to have juvenile arthritis; however, research suggests that having a family member with juvenile arthritis or any autoimmune disease may increase the risk of having juvenile arthritis, in general. Treatment usually involves different types of medications to help manage symptoms and/or physical therapy." "" + "enthesitis" "Inflammation at the site of insertion of ligaments, tendons, and other fibrous structures into bone." "" + "AA amyloidosis" "Secondary amyloidosis is a form of amyloidosis, that complicates chronic inflammatory disorders (mainly rheumatoid arthritis) and is characterized by the aggregation and deposition of amyloid fibrils composed of serum amyloid A protein, an acute phase reactant. Although spleen, suprarenal gland, liver and gut are frequent sites of amyloid deposition, the clinical picture is dominated by renal involvement." "" + "wild type ABeta2M amyloidosis" "" + "ATTRV122I amyloidosis" "Transthyretin (TTR)-related familial amyloidotic cardiomyopathy is a hereditary TTR-related systemic amyloidosis (ATTR) with predominant cardiac involvement resulting from myocardial infiltration of abnormal amyloid protein." "" + "obsolete congenital toxoplasmosis" "" "true" + "Trichinellosis" "A zoonotic parasitic disease caused by the consumption of raw or undercooked meat (pork and wild game) infected by nematodes of the genus Trichinella and that is characterized by an enteral (intestinal) phase, that can be asymptomatic or that can manifests with diarrhea, nausea, vomiting and abdominal pain, and a parenteral (muscular) phase, manifesting with fever, periorbital edema, muscle swelling and pain, weakness, and in some cases, skin rash and peripheral edema. Rarely, potentially fatal cardiac (i.e. myocarditis), pulmonary (i.e. pneumonitis, respiratory failure), and nervous system (i.e. meningoencephalitis) complications may occur." "" + "trichofolliculoma" "Trichofolliculoma is a rare benign follicular hamartoma that develops primarily on the face of adults, with a particular predilection for the back of the nose, but also on the neck or scalp. It presents as a solitary hemispheric flesh-colored nodule with a central pore or black dot that may contain a tuft of hair." "" + "hamartoma of skin appendage" "A hamartoma (disease) that involves the cutaneous appendage." "" + "localized lichen myxedematosus" "Localized lichen myxedematosus is a group of skin diseases characterized by the development of papules, nodules and/or plaques with mucin deposits and a variable degree of fibrosis in the absence of thyroid disease. The group comprises five sub-forms: nodular lichen myxedematosus, discrete papular lichen myxedematosus, papular mucinosis of infancy, acral persistent papular mucinosis and self-healing papular mucinosis." "" + "atypical lichen myxedematosus" "Atypical lichen myxedematosus is an intermediate form of lichen myxedematosus (LM) (a form of mucin dermal deposit) which does not meet the criteria for either scleromyxedema or the localized form. Three clinical subtypes have been described and include scleromyxedema without monoclonal gammopathy; localized forms with monoclonal gammopathy and/or systemic symptoms; localized forms with mixed features of the 5 subtypes of localized LM (discrete form, acral persistent papular mucinosis, self-healing papular mucinosis, papular mucinosis of infancy, and a pure nodular form). The course of atypical LM is unpredictable because only a few cases have been reported." "" + "lissencephaly type 3-familial fetal akinesia sequence syndrome" "Lissencephaly type 3-familial fetal akinesia sequence syndrome is characterised by the association of microencephaly, agenesis of the corpus callosum, brainstem hypoplasia, cystic cerebellum and foetal akinesia sequence. Less than 10 cases have been described so far. The syndrome is transmitted as an autosomal recessive trait and may be an allelic variant of Neu-Laxova syndrome and lissencephaly type III with metacarpal bone dysplasia." "" + "chronic neutrophilic leukemia" "A rare chronic myeloproliferative neoplasm characterized by neutrophilic leukocytosis. There is no detectable Philadelphia chromosome or BCR/ABL fusion gene." "" + "acute panmyelosis with myelofibrosis" "An acute myeloid leukemia characterized by bone marrow fibrosis without preexisting primary myelofibrosis." "" + "acute myeloid leukemia with multilineage dysplasia" "An acute myeloid leukemia arising de novo and not as a result of treatment. It is characterized by the presence of myelodysplastic features in at least 50% of the cells of at least two hematopoietic cell lines. Patients often present with severe cytopenia." "" + "acute basophilic leukemia" "A rare acute myeloid leukemia in which the immature cells differentiate towards basophils." "" + "obsolete myeloid sarcoma" "" "true" + "B-cell prolymphocytic leukemia" "A neoplasm of prolymphocytes affecting the blood, bone marrow, and spleen. It is characterized by prolymphocytes exceeding 55% of the lymphoid cells in the blood and profound splenomegaly." "" + "splenic marginal zone lymphoma" "Splenic marginal zone lymphoma is a rare, indolent B-cell non-Hodgkin lymphoma characterized by abnormal clonal proliferation of mature B-lymphocytes with involvement in the spleen, bone marrow and, frequently, the blood. It usually presents with splenomegaly, lymphocytosis, anemia and/or thrombocytopenia. Hepatitis C virus and autoimmune manifestations, such as autoimmune hemolytic anemia and autoimmune thrombocytopenia, could be associated." "" + "non-amyloid monoclonal immunoglobulin deposition disease" "" + "nodal marginal zone B-cell lymphoma" "Nodal marginal zone B-cell lymphoma is a rare, indolent B-cell non-Hodgkin lymphoma, characterized by abnormal clonal proliferation of mature B-lymphocytes with involvement of the lymph nodes, sometimes the bone marrow, and rarely the blood. Clinically it presents with disseminated peripheral, abdominal and/or thoracic lymphadenopathy. Cytopenia and bulky tumors (greater than 5 cm) are rare. Association with Hepatitis C virus and chronic inflammation has been reported." "" + "lymphomatoid granulomatosis" "Lymphomatoid granulomatosis (LYG) is a very rare Epstein-Barr virus (EBV)-driven lymphoproliferative disease most commonly occurring in adults (in the fourth to sixth decade of life) and commonly affecting the lungs (with presentations varying from small bilateral pulmonary nodules to large necrotic and sometimes cavitating lesions), skin, central nervous system, and kidneys, but only very rarely affecting the lymph nodes and spleen. The symptoms associated with LYG depend on the site of disease involvement but mainly include cough, dyspnea or chest pain (in those with pulmonary involvement) and constitutional symptoms such as weight loss and fever." "" + "CD4+/CD56+ hematodermic neoplasm" "An aggressive immature hematologic neoplasm formerly known as blastic NK cell lymphoma, composed of cells with a lymphoblast-like morphology. Recent evidence suggests derivation from a plasmacytoid monocyte. Patients present with cutaneous tumors and bone marrow involvement." "" + "T-cell prolymphocytic leukemia" "A slow-growing type of leukemia (blood cancer) in which too many lymphocytes are found in the bone marrow and/or blood. The T-cell is specified as the defective cell line." "" + "T-cell large granular lymphocyte leukemia" "T-cell large granular lymphocyte leukemia (T-cell LGL leukemia) is a lymphoproliferative malignancy that arises from the mature T-cell (CD3+) lineage." "" + "aggressive NK-cell leukemia" "A rare, highly aggressive, Epstein-Barr virus-associated leukemia, also known as aggressive NK-cell leukemia/lymphoma; it may represent the leukemic counterpart of nasal type extranodal NK/T-cell lymphomas. It affects primarily teenagers and young adults. It is characterized by the systemic proliferation of NK cells in the peripheral blood, bone marrow, liver, and spleen." "" + "adult T-cell leukemia/lymphoma" "A peripheral (mature) T-cell neoplasm linked to the human T-cell leukemia virus type 1 (HTLV-1), adult T-cell leukemia/lymphoma is endemic in several regions of the world, in particular Japan, the Caribbean, and parts of Central Africa." "" + "deltaretrovirus infections" "Infections caused by the HTLV or BLV deltaretroviruses. They include human T-cell leukemia-lymphoma (LEUKEMIA-LYMPHOMA, T-CELL, ACUTE, HTLV-I-ASSOCIATED)." "" + "extranodal nasal NK/T cell lymphoma" "Extranodal nasal NK/T cell lymphoma (NKTCL) is a rare, malignant neoplasm mainly affecting men in the fifth decade of life, that usually arises in the nose, paranasal sinuses, orbits or upper airway, and that can present with a nasal mass, nasal bleeding, nasal obstruction, palate perforation (i.e. midline perforation of the hard palate), and mid-facial and/or upper airway destructive lesions. In advanced disease stages, which are associated with a poor prognosis, NKTCL may disseminate to other organs. A few cases of NKTCL presenting primarily in the lymph nodes have also been described." "" + "hepatosplenic T-cell lymphoma" "An extranodal, mature T-cell non-Hodgkin lymphoma that originates from cytotoxic T-cells, usually of gamma/delta T-cell type. It is characterized by the presence of medium-size neoplastic lymphocytes infiltrating the hepatic sinusoids. A similar infiltrating pattern is also present in the spleen and bone marrow that are usually involved at the time of the diagnosis." "" + "subcutaneous panniculitis-like T-cell lymphoma" "Subcutaneous panniculitis-like T-cell lymphoma (SPTCL) is a rare cytotoxic cutaneous lymphoma that has been recognized as a distinct subset of peripheral T-cell lymphomas originating and presenting primarily in the subcutaneous fat tissue." "" + "primary cutaneous peripheral T-cell lymphoma not otherwise specified" "" + "obsolete angioimmunoblastic T-cell lymphoma" "" "true" + "adult nodular lymphocyte predominant Hodgkin lymphoma" "A nodular lymphocyte predominant Hodgkin lymphoma occurring in adults." "" + "histiocytic sarcoma" "An aggressive malignant neoplasm with a poor response to therapy, usually presenting as stage III/IV disease. It is characterized by the presence of neoplastic cells with morphologic and immunophenotypic characteristics similar to those seen in mature histiocytes." "" + "macrophage or histiocytic tumor" "" + "Langerhans cell sarcoma" "A neoplastic proliferation of Langerhans cells with overtly malignant cytologic features. It can be considered a higher grade variant of Langerhans cell histiocytosis (LCH) and it can present de novo or progress from antecedent LCH. (WHO, 2001)" "" + "obsolete follicular dendritic cell sarcoma" "" "true" + "dendritic cell sarcoma not otherwise specified" "" + "methotrexate-associated lymphoproliferative disorders" "Methotrexate-associated lymphoproliferative disorders are rare immunodeficiency-associated lymphoproliferative diseases characterized by lymphoid proliferation or lymphomas (large B-cell lymphoma, T-cell lymphoma, Hodgkin lymphoma, reactive lymphadenitis and a polymorphic post-transplant lymphoproliferative disorder) that develop in patients with different autoimmune diseases treated with methotrexate. Swelling is the predominant manifestation of the disease and regression after methotrexate withdrawal is observed in a significant proportion of patients." "" + "hypothalamic hamartomas with gelastic seizures" "Hypothalamic hamartomas with gelastic seizures is a rare cerebral malformation with epilepsy syndrome characterized by early-onset gelastic (i.e. ictal laughter) or dacrystic (i.e., ictal crying) seizures due to non-neoplastic developmental malformation - hypothalamic hamartomas. In many patients, seizures progress to other seizure types including focal and generalized seizures, with concomitant cognitive decline and behavioral disorders. Some patients also present a precocious puberty." "" + "idiopathic hemiconvulsion-hemiplegia syndrome" "A rare acute encephalopathy with inflammation-mediated status epilepticus characterized by infancy-onset of refractory unilateral, mainly clonic status epilepticus during or shortly after a febrile episode without evidence of central nervous system infection, followed by permanent or transient hemiplegia with a minimum duration of one week. The majority of children develop pharmaco-resistant epilepsy a few months later. Brain imaging shows edematous swelling of the affected hemisphere at the time of the initial status, followed by hemiatrophy that does not correlate with any vascular territory." "" + "epilepsy with myoclonic absences" "" + "myoclonic epilepsy in non-progressive encephalopathies" "A rare epilepsy syndrome characterized by recurrent, long-lasting myoclonic status in infants and young children with a non-progressive encephalopathy, associated with transient and recurring motor, cognitive and/or behavioral disturbances." "" + "diffuse palmoplantar keratoderma - acrocyanosis syndrome" "Diffuse palmoplantar keratoderma-acrocyanosis syndrome is characterised by the association of diffuse palmoplantar keratoderma and acrocyanosis. It has been described in eight members of one family and in two sporadic cases. The mode of inheritance in the familial cases was autosomal dominant." "" + "obsolete rare intellectual disability" "Rare intellectual disability." "True" "true" + "obsolete desmoid tumor" "" "true" + "primary adult heart tumor" "Adult heart tumor refers to neoplasms of the heart that manifest in adults and generally present with a variety of non-specific manifestations (depending on tumor site and infiltration) such as weight loss, exhaustion, hemorrhagic pericardial effusion, heart failure, arrhythmias, and embolisms, or that can also be asymptomatic. In adults 75% of heart tumors are benign, with myxoma being the most common benign tumor (accounting for 50-70% of all primary heart tumors) and rhabdomyosarcoma comprising 75% of malignant heart tumors. Other malignant tumors of the heart include fibrosarcoma and leiomyosarcoma (see these terms)." "" + "primary pediatric heart tumor" "Cardiac tumours are benign or malignant neoplasms arising primarily in the inner lining, muscle layer, or the surrounding pericardium of the heart. They can be primary or metastatic." "" + "obsolete yolk sac tumor" "" "true" + "tungiasis" "An disease or disorder caused by infection with Tunga penetrans." "" + "superior limbic keratoconjunctivitis" "Superior limbic keratoconjunctivitis (SLK) is a chronic and recurrent eye disease which affects thesuperior bulbar conjunctiva (the clear layer that covers the eyeball, over the sclera) and tarsal conjunctiva (the clear layer that lines the eyelids), as well as the superior limbic aspect of the cornea (the area above the cornea). It is commonly found in women 20-70 years of age. The signs and symptoms include burning, redness and irritation and tend to develop slowly over a period of 1 to 10 years.Vision usually remains intact. While the underlying cause ofSLK remains unknown, it is believed that the condition issecondary to superior bulbar conjunctiva laxity. Factors inducing conjunctiva laxity include thyroid eye disease (usually hyperthyroidism), tight upper eyelids, and prominent globes. A mimicking disorder has been encountered in soft contact lens (SCL) wearers, typically with exposure to thimerosal-preserved solutions. Treatment of SLK may involve the use of various medications, surgery, or a combination of both." "" + "obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome" "Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome is characterised by precocious obesity, congenital hypothyroidism, neonatal colitis, cardiac hypertrophy, craniosynostosis and developmental delay. It has been described in two brothers, one of whom died within the first month of life. The parents of the two children were nonconsanguineous and in good health, however, the pregnancies were complicated by a maternal HELLP syndrome (Haemolysis, Elevated Liver enzymes and Low Platelets). The mode of inheritance has not yet been clearly established." "" + "cutaneous leukocytoclastic angiitis" "Cutaneous leukocytoclastic angiitis is a small-vessel vasculitis presenting with palpable purpura and urticarial lesions which predate the purpuric lesions most frequently observed on the legs. Systemic symptoms including fever, cough, hemoptysis, sinusitis, arthralgia, arthritis, myalgia, abdominal pain, diarrhea, hematochezia, paresthesia, weakness, and hematuria may be observed. Skin biopsy reveals exudates rich in neutrophils, endothelial damage, fibrin deposition, and leukocytoclasis in postcapillary venules of small vessels. Cutaneous leukocytoclastic angiitis can be idiopathic (in up to 50% of cases) or secondary to infections, medications (such as antituberculosis medication), collagen vascular diseases, or neoplasms." "" + "obsolete autosomal dominant medullary cystic kidney disease without hyperuricemia" "" "true" + "autosomal dominant medullary cystic kidney disease with hyperuricemia" "An inherited disorder that causes a gradual loss of kidney function that eventually leads to the need for kidney transplantation or dialysis between the ages of 30 and 70, which is caused by a mutation in the UMOD gene, which leads to the build-up of the altered uromodulin protein in the tubules of the kidney, leading to slow loss of kidney function. Patients with ADTKD-UMOD have high blood levels of uric acid before kidney failure develops, and some affected individuals may develop gout." "" + "digestive tract malformation" "" + "obsolete rare dementia" "Rare dementia." "True" "true" + "centripetalis recessive dystrophic epidermolysis bullosa" "Centripetalis recessive dystrophic epidermolysis bullosa (RDEB-Ce) is an extremely rare subtype of dystrophic epidermolysis bullosa (DEB), characterized by blistering which begins acrally and then progressively spreads toward the trunk." "" + "recessive dystrophic epidermolysis bullosa-generalized other" "Recessive dystrophic epidermolysis bullosa (RDEB)-generalized other, also known as RDEB non-Hallopeau-Siemens type, is a subtype of DEB characterized by generalized cutaneous and mucosal blistering that is not associated with severe deformities." "" + "obsolete Walker-Warburg syndrome" "" "true" + "tetrasomy X" "Tetrasomy X is a sex chromosome anomaly caused by the presence of two extra X chromosomes in females (48,XXXX instead of 46,XX)." "" + "tetrasomy" "A chromosomal anomaly consisting of the presence of two chromosomes of the same type in addition to the normal diploid number." "" + "erythema elevatum diutinum" "Erythema elevatum diutinum (EED) is a distinctive form of chronic cutaneous vasculitis, belonging to the group of the neutrophilic dermatoses." "" + "undifferentiated connective tissue syndrome" "An autoimmune disorder which does not meet classification criteria used to establish the presence of other well-defined connective tissue diseases." "" + "IgG4-related hepatopathy" "Inflammatory pseudotumor (IPT) of the liver is a rare benign tumor-like lesion." "" + "radiation myelitis" "A disease characterized by white matter damage to the spinal cord developed after a certain period of application of ionizing radiation." "" + "hemolytic anemia due to glutathione reductase deficiency" "Haemolytic anaemia due to glutathione reductase (GSR) deficiency is characterised by nearly complete absence of GSR activity in erythrocytes." "" + "autoimmune hemolytic anemia, warm type" "Warm autoimmune hemolytic anemia is the most common form of autoimmune hemolytic anemia defined by the presence of warm autoantibodies against red blood cells (autoantibodies that are active at temperatures between 37-40B0C)." "" + "paroxysmal cold hemoglobinuria" "Paroxysmal cold hemoglobinuria (PCH) is a very rare subtype of autoimmune hemolytic anemia (AIHA), caused by the presence of cold-reacting autoantibodies in the blood and characterized by the sudden presence of hemoglobinuria, typically after exposure to cold temperatures." "" + "mixed-type autoimmune hemolytic anemia" "Mixed autoimmune hemolytic anemia is a type of autoimmune hemolytic anemia (AIHA) defined by the presence of both warm and cold autoantibodies, which have a deleterious effect on red blood cells at either body temperature or at lower temperatures." "" + "drug-induced autoimmune hemolytic anemia" "Drug-induced autoimmune hemolytic anemia is a type of autoimmune hemolytic anemia (AIHA) that occurs as a reaction to therapeutic drugs, and can be due to various mechanisms." "" + "typical hemolytic-uremic syndrome" "Typical hemolytic-uremic syndrome (typical HUS) is a thrombotic microangiopathy characterized by mechanical hemolytic anemia, thrombocytopenia, and renal dysfunction that is usually associated with prodromal enteritis caused by Shigella dysentriae type 1 or E. Coli." "" + "hemoglobin D disease" "Hemoglobin D disease(HbD) is a hemoglobinopathy characterized by production of abnormal variant hemoglobin known as hemoglobin D, with no or mild clinical manifestations (splenomegaly, very mild anemia)." "" + "Gaisbock syndrome" "Polycythemia that is caused by stress." "" + "obsolete retinopathy of prematurity" "" "true" + "diffuse alveolar hemorrhage" "" + "acute liver failure" "Rapid deterioration of liver function causing encephalopathy and coagulopathy. It results from damage to the liver parenchyma usually secondary to acetaminophen overdose or viral infections." "" + "liver failure" "A liver disease characterized by the liver losing or has lost all of its function." "" + "acquired aneurysmal subarachnoid hemorrhage" "Acquired aneurysmal subarachnoid hemorrhage is a serious, life threatening rare neurologic disease characterized by a sudden rupture of an intracranial aneurysm into the subarachnoid space. It usually presents with a sudden, severe, excruciating headache accompanied by nausea, vomiting and syncope. Other features may include focal neurological signs, third and sixth nerve palsies, seizures and cardiac failure. Early complications include rebleeding, hydrocephalus, and seizures." "" + "cocaine intoxication" "" + "systemic monochloroacetate poisoning" "Systemic monochloroacetate poisoning is a rare, life-threatening intoxication with monochloroacetic acid (mainly through the skin, but also by inhalation or ingestion). It is characterized by vomiting, diarrhea and central nervous system (CNS)-excitability (disorientation, delirium, convulsions) as early signs of systemic poisoning, followed by CNS-depression, coma and cerebral edema. Additional signs include heart involvement (severe myocardial depression, shock, arrhythmias, nonspecific myocardial damage), severe metabolic acidosis, hypokalemia, hypocalcemia and progressive renal failure leading to anuria. Myoglobinemia and leukocytosis may occur. Manifestations may be delayed for 1-4 hours." "" + "obsolete other acquired skin disease" "True" "true" + "Wells syndrome" "Wells syndrome is characterised by the presence of recurrent cellulitis-like eruptions with eosinophilia." "" + "severe early-onset axonal neuropathy due to MFN2 deficiency" "Severe early-onset axonal neuropathy due to MFN2 deficiency is a rare axonal hereditary motor and sensory neuropathy characterized by early onset (<10 years) progressive distal muscle weakness and wasting of the lower limbs and later, to a lesser extent the upper limbs resulting in foot and wrist drop, areflexia, skeletal deformities (kyphoscoliosis, pes cavus with flattening, joint contractures), mild sensory impairment with vibration sense reduced to a greater extent than pain, optic atrophy and hearing loss. Wheelchair dependence by adolescence is usual and respiratory impairment with diaphragmatic paralysis may develop." "" + "hereditary motor and sensory neuropathy with acrodystrophy" "Hereditary motor and sensory neuropathy with acrodystrophy is a rare axonal hereditary motor and sensory neuropathy characterized by progressive axonal neuropathy with limb weakness and severe distal sensory loss in all limbs and acrodystrophic changes leading to painless non-healing ulcers, osteomyelitis, contractures and mutilating lesions with loss of terminal phalanges. One family with three affected siblings is described and there have been no further descriptions in the literature since 1999." "" + "centrifugal lipodystrophy" "Centrifugal lipodystrophy is a rare, acquired, localized lipodistrophy characterized by single or, occasionally, multiple, centrifugally progressive, asymptomatic to sometimes mildly tender, hypopigmented, lipoatrophic skin depressions with weakly erymatheous inflammatory borders, typically associated with regional ipsilateral lymph nodes swelling. Lesions typically occur on lower trunk (in particular groin and abdomen region), followed by upper trunk (axilla and neighboring regions) and, rarely, neck and head. It is usually not associated with systemic disease and is typically self-resolving." "" + "drug-induced localized lipodystrophy" "Drug-induced localized lipodystrophy is a rare, acquired, localized lipodystrophy characterized by the appearance of asymptomatic, well-demarcated, variably sized, depressed, lipoatrophic lesions secondary to subcutaneous, intradermic or intramuscular drug injection, including corticosteroids, insulin, human growth hormone and antibiotics. Skin coloration may vary from white or hypopigmented to reddish, pinkish or violaceous. Epidermal atrophy may be also present." "" + "idiopathic localized lipodystrophy" "Idiopathic localized lipodystrophy is a rare, acquired, localized lipodystrophy characterized by asymptomatic, well-demarcated, depressed, lipoatrophic lesions of variable size, with normal overlying skin without antecedent inflammation or a known identifiable cause (autoimmune disease, drug injection, injury, etc)." "" + "panniculitis and localized lipodystrophy" "" + "pressure-induced localized lipoatrophy" "Pressure-induced localized lipoatrophy is a rare, acquired, localized lipodystrophy characterized by band-like, horizontal, asymptomatic, lipoatrophic depressions with clinically normal overlying skin usually involving the anterolateral aspect of the thighs. An identifiable history of the repeated mechanical microtrauma due to occupational or postural habits is present." "" + "discoid lupus erythematosus" "A chronic, autoimmune skin condition that manifests with a red, scaling rash, most often found on the face, ears, and scalp; these lesions often lead to permanent scarring and dyspigmentation. Patients may have lesions with or without other symptoms or antibodies suggestive of systemic lupus erythematosus (SLE)." "" + "hypertrophic or verrucous lupus erythematosus" "" + "lupus erythematosus tumidus" "Tumid erythematosus lupus is considered a rare type of chronic cutaneous lupus erythematosus. Cutaneous lupus erythematosus (CLE) can be divided into acute cutaneous lupus, subacute cutaneous lupus, and chronic cutaneous lupus. Tumid erythematosus lupus is characterized by smooth, non-scarring, pink- to violet-colored pimples (papules)on the skin without any other apparent skin changes, such as scarring. Patients with tumid lupus erythematosus usually do not have other symptoms of systemic lupus erythematosus or other types of cutaneous lupus erythematosus. The papules appear on sun-exposed areas of the face, upper back, V area of the neck, trunk, and arms, and more rarely on thighs and legs. They usually affect equally both sides of the body, but may affect only one side. Normally, the papules clear without leaving scars. The treatment is very effective in most cases, and may include sun protection, anti-malarials drugs, local corticosteroids, topical tacrolimus and light therapy." "" + "lupus erythematosus panniculitis" "A type of lupus erythematosus characterized by deep dermal or subcutaneous nodules, most often on the head, face, or upper arms. It is generally chronic and occurs most often in women between the ages of 20 and 45." "" + "localized scleroderma" "Localized scleroderma is the skin localized form of scleroderma characterized by fibrosis of the skin causing cutaneous plaques or strips." "" + "CREST syndrome" "CREST syndrome is a subtype of limited cutaneous systemic sclerosis (lcSSc) whose name is an acronym for the cardinal clinical features of the syndrome: calcinosis, Raynaud's phenomenon, esophageal dysmotility, sclerodactyly and telangiectasia." "" + "obsolete systemic sclerosis" "" "true" + "von Willebrand disease (hereditary or acquired)" "Hereditary or acquired coagulation disorder characterized by a qualitative or quantitative deficiency of the von Willebrand factor. The latter plays an important role in platelet adhesion. Signs and symptoms include bruises, nose bleeding, gum bleeding following a dental procedure, heavy menstrual bleeding, and gastrointestinal bleeding." "" + "obsolete Klippel-Trenaunay syndrome" "" "true" + "Ehlers-Danlos syndrome, classic type, 1" "Any Ehlers-Danlos syndrome in which the cause of the disease is a mutation in the COL5A1 gene." "" + "Ehlers-Danlos syndrome, classic type, 2" "Any Ehlers-Danlos syndrome in which the cause of the disease is a mutation in the COL5A2 gene." "" + "Cockayne syndrome type 1" "Cockayne syndrome caused by mutation(s) in the ERCC8 gene, encoding DNA excision repair protein ERCC-8." "" + "Cockayne syndrome type 2" "Cockayne syndrome caused by mutation(s) in the ERCC6 gene, encoding DNA excision repair protein ERCC-6." "" + "secondary intestinal lymphangiectasia" "Secondary intestinal lymphangiectasia is an acquired from of intestinal lymphangiectasia manifesting as a protein-losing enteropathy due to another disorder such as CrohnBs disease, congestive heart failure, sarcoidosis, Turner syndrome and often in patients who have undergone a Fontan operation. It is characterized by malabsorption, diarrhea, edema due hypoproteinemia, steatorrhea and serosal effusions." "" + "telangiectasia macularis eruptiva perstans" "" + "nodular lichen myxedematosus" "Nodular lichen myxedematosus is a rare form of localized lichen myxedematosus characterized by the development of skin-coloured mucinous nodules on the limbs and trunk, with mild or absent papular eruption." "" + "discrete papular lichen myxedematosus" "Discrete papular lichen myxedematosus is a rare chronic, slowly progressive form of localized lichen myxedematosus characterized by the development of a few to multiple small symmetrical skin-coloured mucinous papules on the limbs and trunk." "" + "papular mucinosis of infancy" "Papular mucinosis of infancy is a rare pediatric non progressive form of localized lichen myxedematosus characterized by the development of firm opalescent mucinous papules on the upper arms and the trunk." "" + "acral persistent papular mucinosis" "Acral persistent papular mucinosis is a rare chronic form of localized lichen myxedematosus characterized by the development of multiple symmetrical skin-colored mucinous papules exclusively on the extensor surface of the hands and distal forearms." "" + "self-healing papular mucinosis" "Self-healing papular mucinosis is a rare form of localized lichen myxedematosus occurring primarily in children and characterized by the development of mucinous papules on various parts of the body (face, neck, trunk, and limbs) that resolve spontaneously within some weeks to months. Systemic symptoms can be observed such as fever, arthralgias and weakness." "" + "localized lichen myxedematosus with mixed features of different subtypes" "Localized lichen myxedematosus (LM) with mixed features of different subtypes is a form of atypical lichen myxedematosus, characterized by mixed features of the 5 subtypes of localized LM which are: discrete papular LM, acral persistent papular mucinosis, self-healing papular mucinosis, papular mucinosis of infancy, and nodular LM." "" + "localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms" "Localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms is a form of atypical lichen myxedematosus, characterized by the appearance of several 2-4 mm erythematous waxy papules confined to a few sites that may be associated with either an immunoglobulin A (IgA) nephropathy in patients with acral persistent papular mucinosis; discrete papular lichen myxedematosus; a scleromyxedema-like involvement, with dysphagia, hoarseness, pulmonary involvement, and carpal tunnel syndrome; myositis without skin sclerosis; or paraproteinemia." "" + "scleromyxedema without monoclonal gammopathy" "Scleromyxedema without monoclonal gammopathy is a form of atypical lichen myxedematosus, characterized by a generalized sclerodermoid infiltration of skin studded with multiple, firm papules of 1-3 mm in diameter involving face (leonine appearance), trunk, and limbs, without monoclonal gammopathy. The involvement of the face can be missing and pruritus may be prominent." "" + "obsolete disorder of sex development" "In gonochoristic organisms, congenital conditions in which development of chromosomal, gonadal, or anatomical sex is atypical. Effects from exposure to abnormal levels of gonadal hormones in the maternal environment, or disruption of the function of those hormones by ENDOCRINE DISRUPTORS are included." "" "true" + "obsolete fragile X syndrome" "" "true" + "primary lipodystrophy" "Primary lipodystrophies represent a heterogeneous group of very rare diseases characterized by a generalized or localized loss of body fat (lipoatrophy)." "" + "obsolete other inborn metabolic disease" "True" "true" + "osteopenia-myopia-hearing loss-intellectual disability-facial dysmorphism syndrome" "Osteopenia-myopia-hearing loss-intellectual disability-facial dysmorphism syndrome is characterised by severe hypertelorism, brachycephaly, abnormal ears, sloping shoulders, enamel hypoplasia, osteopaenia with frequent fractures, severe myopia, mild to moderate sensorineural hearing loss and mild intellectual deficit. It has been described in two brothers born to first-cousin parents. No chromosomal anomalies were detected. Transmission appears to be autosomal recessive or X-linked." "" + "acquired monoclonal Ig light chain-associated Fanconi syndrome" "Fanconi syndrome (FS) is a generalized disorder of renal proximal tubule function. In adults over 50 years of age, FS is frequently related to the urinary secretion of a monoclonal immunoglobulin (Ig) light chain (LC), almost always of the kappa isotype." "" + "immunotactoid or fibrillary glomerulopathy" "Immunotactoid or fibrillary glomerulopathy is a group of very rare glomerular diseases, composed of immunotactoid glomerulopathy (ITG) and non-amyloid fibrillary glomerulopathy (non-amyloid FGP), that are characterized by mesangial deposition of monoclonal microtubular or polyclonal fibrillar deposits. Both present clinically with nephrotic range proteinuria, hematuria and renal insufficiency leading to renal failure in many cases. ITG is more likely to manifest with underlying lymphoproliferative disease, hypocomplementemia, dysproteinemia, monoclonal gammopathy or occult cryoglobulinemia. Non-amyloid FGP is 10 times more frequent than ITG." "" + "simple cryoglobulinemia" "Simple (monoclonal) cryoglobulinemia or type I cryoglobulinemia refers to the presence in the serum of one isotype or subclass of immunoglobulin (Ig) that precipitates reversibly below 37°C." "" + "unspecified juvenile idiopathic arthritis" "Unspecified juvenile idiopathic arthritis is a rare, pediatric, rheumatologic disease, a subtype of juvenile idiopathic arthritis (JIA) characterized by arthritis of an unknown cause that persists for at least 6 weeks, and does not fulfill the criteria for any of the other JIA subtypes, or fulfills criteria for more than one of the other subtypes." "" + "Zollinger-Ellison syndrome" "Zollinger-Ellison syndrome (ZES) is characterized by severe peptic disease (ulcers/esophageal disease) caused by hypergastrinemia secondary to a gastrinoma resulting in increased gastric acid secretion." "" + "TSH-secreting pituitary adenoma" "A rare adenoma of the anterior lobe of the pituitary gland that produces thyrotropin. It is usually associated with goiter and hyperthyroidism." "" + "functioning gonadotropic adenoma" "Functioning gonadotropic adenoma is a very rare pituitary tumor, macroscopically characterized by a soft, well vascularized, variable sized adenoma, with occasional areas of hemorrage or necrosis, that secretes biologically active gonadotropins. In addition to common neurological signs due to mass effect (headache and/or visual field deterioration), additional clinical manifestations include menstrual irregularities (secondary amenorrhea, oligomenorhea or severe menorrhagia), galactorrhea, infertility or ovarian hyperstimulation syndrome (in premenopausal women), testicular enlargement and, occasionally, hypogonadism (in men) and isosexual precocious puberty (in children)." "" + "pituitary deficiency due to Rathke's pouch cysts" "" + "pituitary dermoid and epidermoid cysts" "" + "obsolete germinoma of the central nervous system" "" "true" + "pituitary deficiency due to empty sella turcica syndrome" "" + "Sheehan syndrome" "An uncommon cause of hypopituitarism seen after severe postpartum hemorrhaging. Prolonged hypovolemia leads to ischemic necrosis of the pituitary. Clinical signs typically present in the puerperium and include failure to begin lactation, fatigue, hypotension and eventual amenorrhea. Clinical course is usually mild, however extreme cases may progress to adrenal failure. Prognosis is most favorable when hormone replacement is initiated soon after symptom onset." "" + "pituitary hormone defiency from vascular origin" "" + "congenital esophageal diverticulum" "Congenital esophageal diverticulum is a rare, non-syndromic malformation of the esophagus, present at birth, and characterized by a false diverticulum, most often located in the upper, posterior esophagus. Many patients are asymptomatic, but respiratory distress, food regurgitation, dysphagia, chest pain, aspiration pneumonia and discomfort are typical presenting manifestations." "" + "chronic pneumonitis of infancy" "Chronic pneumonitis of infancy is a rare pediatric form of interstitial lung disease (ILD)." "" + "non-specific interstitial pneumonia" "Idiopathic interstitial pneumonia characterized by chronic inflammation and fibrosis in the interstitial lung tissue. It includes cases that cannot be classified into one of the other types of idiopathic interstitial pneumonia." "" + "isolated ankyloblepharon filiforme adnatum" "Isolated ankyloblepharon filiforme adnatum (AFA) is characterised by the presence of single or multiple thin bands of connective tissue between the upper and lower eyelids, preventing full opening of the eye. Several cases have been reported. It can occur sporadically or following an autosomal dominant transmission pattern. In some cases, AFA can be associated with other disorders, such as trisomy 18. The bands should be removed to avoid amblyopia and this can easily be performed in the neonatal period by cutting with tissue scissors." "" + "eyelid border anomaly" "" + "congenital ectropion uveae" "Congenital ectropion uveae is a rare, genetic, non-syndromic developmental defect of the eye characterized by the presence of iris pigment epithelium on the anterior surface of the iris, anterior insertion of the iris, angle dysgenesis and progressive open-angle glaucoma (the latter may present in infancy or may develop later in life). Patients may manifest with headaches, ocular pain, photophobia, and redness, watering and/or swelling of the eye. It can often be associated with neurofibromatosis and less commonly with other ocular abnormalities." "" + "Lyme disease" "Lyme disease (named after the towns in the USA where the disease was first identified) is a bacterial infection caused by Borrelia burgdorferi." "" + "familial nasal acilia" "Familial nasal acilia is a rare genetic otorhinolaryngologic disease characterized by respiratory morbidity due to lack of cilia on the respiratory tract epithelial cells. The disease manifests from birth with respiratory distress, neonatal pneumonia, dyspnea, lobar atelectasis and bronchiectasis. Recurrent infections of the upper and lower respiratory tract, chronic humid coughing, and chronic sinusitis, otitis and rhinitis are typical lifelong presenting conditions." "" + "renal agenesis, unilateral" "Unilateral renal agenesis (URA) is a form of renal agenesis characterized by the complete absence of development of one kidney accompanied by an absent ureter." "" + "renal hypoplasia" "Renal hypoplasia is a developmental anomaly in which one or both kidneys (unilateral or bilateral renal hypoplasia, respectively) have a deficit in the number of nephrons and may be small. Oligomeganephronia represents a severe variant of hypoplasia in which nephron number is reduced by 80% and nephrons are markedly hypertrophied." "" + "renal dysplasia" "Renal dysplasia is a form of renal malformation in which the kidney(s) are present but their development is abnormal and incomplete. Renal dysplasia can be unilateral or bilateral, segmental, and of variable severity, with renal aplasia corresponding to extreme dysplasia." "" + "congenital megacalycosis" "Congenital megacalycosis is a rare renal malformation, characterized by non-obstructive dilation of the renal calyces as well as an increased calyceal number (12-20), with a normal renal pelvis, ureter, and bladder. It may be unilateral or bilateral and is usually asymptomatic unless complicated by nephrolithiasis and urinary tract infection." "" + "posterior urethral valve" "Posterior urethral valve (PUV) is the most common anomaly of fetal lower urinary tract obstruction (LUTO)and is characterized by an abnormal congenital obstructing membrane that is located within the posterior urethra associated with significant obstruction of the male bladder restricting normal bladder emptying." "" + "pauci-immune glomerulonephritis" "Pauci-immune glomerulonephritis (GN) is one of the most frequent causes of rapidly progressive GN (RPGN). It is characterized clinically by renal manifestations of RPGN (hematuria, hypertension) leading to renal failure within days or weeks, and may be associated with manifestations of systemic vasculitis (arthralgia, fever, seizures, mono neuritis and lung involvement). Pauci-immune GN is histologically characterized by focal necrotizing and crescentic GN, with mild or absent glomerular staining for immunoglobulin and complement by fluorescence microscopy, which may manifest either as part of a systemic small vessel vasculitis (including microscopic polyangiitis, granulomatosis with polyangiitis and eosinophilic granulomatosis with polyangiitis), or rarely as part of renal-limited vasculitis (RLV, idiopathic crescentic GN). Immunologic classification is based on the presence or absence of circulating anti-neutrophil cytoplasmic antibodies (ANCAs), namely pauci-immune-GN with ANCA and pauci-immune GN without ANCA." "" + "transient pseudohypoaldosteronism" "Transient pseudohypoaldosteronism is a renal tubulopathy characterized by renal tubular resistance to aldosterone, characterized by hyponatremia, metabolic acidosis and hyperkalemia and manifesting as dehydration, secondary to urinary tract malformation and infections in infants." "" + "renal dysplasia, unilateral" "Unilateral renal dysplasia is a form of renal dysplasia (RD), a renal tract malformation in which the development of one kidney is abnormal and incomplete. Unilateral RD can be segmental, and of variable severity, with renal aplasia corresponding to extreme RD." "" + "renal dysplasia, bilateral" "Bilateral renal dysplasia is a form of renal dysplasia (RD), a renal tract malformation in which the development of both kidneys is abnormal and incomplete. Bilateral RD can be segmental, and of variable severity, with renal aplasia corresponding to extreme RD." "" + "unilateral congenital megacalycosis" "" + "congenital bilateral megacalycosis" "" + "idiopathic steroid-sensitive nephrotic syndrome with focal segmental hyalinosis" "" + "idiopathic steroid-sensitive nephrotic syndrome with minimal change" "" + "idiopathic steroid-sensitive nephrotic syndrome with diffuse mesangial proliferation" "" + "familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation" "" + "familial idiopathic steroid-resistant nephrotic syndrome with minimal changes" "" + "familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis" "" + "sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis" "" + "sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis" "" + "obsolete sporadic idiopathic steroid-resistant nephrotic syndrome with minimal changes" "" "true" + "obsolete sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation" "" "true" + "Pfeiffer syndrome type 1" "Pfeiffer syndrome type 1 (PS1) is a mild to moderately severe type of Pfeiffer syndrome (PS), characterized by bicoronal craniosynostosis, variable finger and toe malformations, and in most cases, normal intellectual development." "" + "Pfeiffer syndrome type 2" "Pfeiffer syndrome type 2 (PS2) is a frequent and severe type of Pfeiffer syndrome (PS), characterized by cloverleaf skull, severe associated functional disorders, and hand/foot and elbow/knee abnormalities." "" + "Pfeiffer syndrome type 3" "Pfeiffer syndrome type 3 (PS3) is a severe type of Pfeiffer syndrome (PS), characterized by bicoronal craniosynostosis, severe associated functional disorders, and hand, foot and elbow abnormalities." "" + "obsolete short rib-polydactyly syndrome, Saldino-Noonan type" "" "true" + "monostotic fibrous dysplasia" "Fibrous dysplasia of bone involving only one bone." "" + "spondyloepimetaphyseal dysplasia, PAPSS2 type" "Spondyloepimetaphyseal dysplasia (SEMD), Pakistani type is characterized by short stature, short and bowed lower limbs, mild brachydactyly, kyphoscoliosis, abnormal gait, enlarged knee joints, precocious osteoarthropathy, and normal intelligence." "" + "adenoma of pancreas" "" + "hypochondrogenesis" "" + "postaxial polydactyly" "" + "brachydactyly type A5" "Brachydactyly type A5 (BDA5) is a very rare congenital malformation of the digits characterized by absence of the middle phalanges (usually of digits 2 to 5), nail dysplasia and duplicated terminal phalanx of the thumb." "" + "brachydactyly type A7" "Brachydactyly type A7 (Smorgasbord type) is a form of brachydactyly that presents with the characteristic features of brachydactyly type A2 (shortening of the middle phalanges of the index finger and, sometimes, of the little finger) and type D (shortening of the distal phalanx of the thumb) plus various additional features." "" + "genochondromatosis type 2" "Genochondromatosis type 2 is a rare genetic bone development disorder characterized by normal clavicles and symmetrical generalized metaphyseal enchondromas particularly in the distal femur, proximal humerus, and bones of the wrists, hands, and feet. Lesions regress later in life with growth cartilage obliteration. Clinical examination is normal and the course of the disease is benign." "" + "juvenile sialidosis type 2" "" + "congenital sialidosis type 2" "" + "obsolete rare bone disease" "Rare bone disease." "True" "true" + "obsolete type 11 collagen-related bone disorder" "" "true" + "obsolete cleidocranial dysplasia and isolated cranial ossification defect" "" "true" + "obsolete dysostosis with predominant craniofacial involvement" "" "true" + "obsolete dysostosis with predominant vertebral and costal involvement" "" "true" + "pediatric systemic lupus erythematosus" "" + "type II mixed cryoglobulinemia" "Type II mixed cryoglobulinemia, a relatively rare clinico-serological subtype of mixed cryoglobulinemia (MC), is an immune complex disorder characterized by purpura, weakness and arthralgia and defined immunochemically by cryoglobulins composed of polyclonal IgGs (autoantigens) and monoclonal IgM (autoantibody)." "" + "mixed cryoglobulinemia type III" "Type III mixed cryoglobulinemia, a relatively rare clinico-serological subtype of mixed cryoglobulinemia (MC), is an immune complex disorder characterized by purpura, weakness and arthralgia and defined immunochemically by cryoglobulins containing both polyclonal IgGs and polyclonal IgMs." "" + "heavy chain deposition disease" "" + "light and heavy chain deposition disease" "" + "light chain deposition disease" "Light chain deposition disease (LCDD) is a rare condition characterized by the deposition of specific proteins (monoclonal light chains) in the kidneys and other organs. Light chains are used to make antibodies that the body needs to fight infection. People with LCDD make too many light chains, which get deposited in many body tissues. While LCDD can occur in any organ, the kidneys are always involved. Signs and symptoms of LCDD may include protein in the urine ; decreased kidney function; and/or nephrotic syndrome. Rarely, a person with LCDD may have symptoms from cardiac (heart) or liver involvement. The underlying cause of LCDD is unknown. It is often associated with multiple myeloma. LCDD may progress to multiple myeloma, or it may be present with multiple myeloma when it is first diagnosed. The goal of treating LCDD is to slow the production of light chains and their damage to organs. Treatment may include chemotherapy with a drug called Bortezomib ; autologous stem cell transplantation ; immunomodulatory drugs; and/or kidney transplant. If untreated, end-stage renal disease occurs in 70% of cases." "" + "AApoAI amyloidosis" "" + "ALys amyloidosis" "" + "AFib amyloidosis" "" + "juvenile polymyositis" "An idiopathic inflammatory myopathy of childhood resulting in muscle weakness." "" + "polymyalgia rheumatica" "A syndrome characterized by pain, stiffness, and tenderness of the proximal muscle groups including the shoulder, pelvic girdle and the neck. There is no muscle atrophy and muscle biopsies do not reveal pathologic changes. Additional signs and symptoms include low grade fever, fatigue and depression." "" + "dense deposit disease" "Dense deposit disease, a histological subtype of MPGN is an idiopathic chronic progressive kidney disorder distinguished by the presence of intra-membranous dense deposits in addition to immune complex subendothelial deposits in the glomerular capillary walls. This form often has a higher recurrence rate after a kidney transplant and is associated with extra-renal manifestations such as familial drusen." "" + "atypical hemolytic-uremic syndrome with H factor anomaly" "" + "atypical hemolytic-uremic syndrome with anti-factor H antibodies" "" + "acquired thrombotic thrombocytopenic purpura" "Acquired thrombotic thrombocytopenic purpura is the non-hereditary form of thrombotic thrombocytopenic purpura (TTP), characterized by profound peripheral thrombocytopenia, microangiopathic hemolytic anemia (MAHA) and single or multiple organ failure of variable severity." "" + "late-onset nephronophthisis" "" + "obsolete rare renal tubular disease" "True" "true" + "cystinuria type A" "" + "cystinuria type B" "" + "obsolete rare cause of hypertension" "True" "true" + "obsolete rare renal tumor" "Any of the forms of kidney neoplasm that have a rare incidence." "True" "true" + "obsolete rare renal disease" "Any of the forms of urinary system disease that have a rare incidence." "True" "true" + "pediatric Castleman disease" "Pediatric Castleman disease (PCD) is a form of Castleman disease (CD) with a predominant occurrence in teenagers which is either asymptomatic or manifest by systemic (such as fever, anemia, fatigue and failure to thrive) or compressive symptoms." "" + "localized Castleman disease" "Localized Castleman disease (LCD) is the most common form of Castleman disease (CD) and it is usually asymptomatic or it may present with enlarged lymph nodes. LCD may be cured by surgical resection." "" + "multicentric Castleman disease" "Multicentric castleman disease (MCD) is an aggressive form of Castleman disease that mostly results from human herpesvirus 8 (HHV8) infection. It manifests by fever, diffuse lymphadenopathy, hepatosplenomegaly, Involvement of the respiratory system and increased C-reactive protein." "" + "epispadias" "Epispadias is a congenital genitourinary malformation belonging to the spectrum of the exstrophy-epispadias complex (EEC) and is characterized in males by an ectopic meatus or a mucosal strip in place of the urethra on the penile dorsum and in females by bifid clitoris and a variable cleft of the urethra." "" + "terminal transverse defects of arm" "" + "laryngotracheoesophageal cleft type 1" "Laryngo-tracheo-esophageal cleft (LC) type 1 is a congenital respiratory tract anomaly characterized by a supraglottic, interarytenoid cleft above the vocal folds with moderate respiratory symptoms." "" + "laryngotracheoesophageal cleft type 2" "Laryngo-tracheo-esophageal cleft (LC) type 2 is a congenital respiratory tract anomaly characterized by a cleft extending below the vocal folds into the cricoid cartilage, with swallowing disorders and lung infections." "" + "laryngotracheoesophageal cleft type 3" "Laryngo-tracheo-esophageal cleft (LC) type 3 is a congenital respiratory tract anomaly characterized by a cleft extending through the cricoid cartilage, sometimes into the cervical trachea, with severe swallowing disorders, lung infections and pulmonary damage." "" + "laryngotracheoesophageal cleft type 4" "Laryngo-tracheo-esophageal cleft (LC) type 4 is a serious congenital respiratory tract anomaly characterized by a cleft extending into the thoracic trachea and possibly down to the carina, with respiratory distress." "" + "Celosomia" "" + "X-linked intellectual disability, Porteous type" "" + "hamel cerebro-palato-cardiac syndrome" "Hamel cerebro-palato-cardiac syndrome is an X-linked intellectual disability syndrome (XLMR) characterized by intellectual deficiency, microcephaly and short stature. It belongs to the group of disorders collectively referred to as Renpenning syndrome." "" + "X-linked intellectual disability, Golabi-Ito-hall type" "Golabi-Ito-Hall syndrome is an X-linked intellectual disability syndrome (XLMR) characterized by intellectual deficiency, microcephaly and short stature. It belongs to the group of disorders collectively referred to as Renpenning syndrome." "" + "X-linked intellectual disability, Sutherland-Haan type" "" + "X-linked dominant intellectual disability-epilepsy syndrome" "" + "oromandibular dystonia" "Oromandibular dystonia (OMD) is a form of focal dystonia, affecting the lower part of the face and jaws. It is characterized by sustained or repetitive involuntary jaw and tongue movements and facial grimacing caused by involuntary spasms of the masticatory, facial, pharyngeal, lingual, and lip muscles." "" + "blepharospasm-oromandibular dystonia syndrome" "Blepharospasm-oromandibular dystonia, also called Meige dystonia or Meige syndrome is a focal dystonia involving symmetrical benign essential blepharospasm (BEB) and oromandibular dystonia." "" + "Holmes-Gang syndrome" "Holmes-Gang syndrome is an X-linked mental retardation (XLMR) syndrome belonging to the group of conditions characterised by the association of intellectual deficit with hypotonic facies (Mental retardation, X-linked-hypotonic facies)." "" + "Chudley-Lowry-Hoar syndrome" "Chudley-Lowry syndrome is an X-linked mental retardation (XLMR) syndrome belonging to the group of conditions characterised by the association of intellectual deficit with hypotonic facies (Mental retardation-hypotonic facies)." "" + "Juberg-Marsidi syndrome" "Juberg-Marsidi syndrome is an X-linked mental retardation (XLMR) syndrome belonging to the group of conditions characterised by the association of intellectual deficit with hypotonic facies (Mental retardation, X-linked-hypotonic facies)." "" + "Carpenter-Waziri syndrome" "Carpenter-Waziri syndrome is an X-linked mental retardation (XLMR) syndrome belonging to the group of conditions characterised by the association of intellectual deficit with hypotonic facies (Mental retardation, X-linked-hypotonic facies)." "" + "Smith-Fineman-Myers syndrome" "Smith-Fineman-Myers syndrome (SFMS) is an X-linked mental retardation (XLMR) syndrome belonging to the group of conditions characterised by the association of intellectual deficit with hypotonic facies (Mental retardation, X-linked-hypotonic facies)." "" + "Renier-Gabreels-Jasper syndrome" "Renier-Gabreels-Jasper syndrome is an X-linked mental retardation (XLMR) syndrome belonging to the group of conditions characterised by the association of intellectual deficit with hypotonic facies (Mental retardation, X-linked-hypotonic facies)." "" + "anotia" "Anotia is a congenital malformation of the external ear and the most extreme form of microtia characterized by the complete absence of the external ear and auditory canal, conductive hearing loss, attention deficit disorders and delayed language development." "" + "neovascular glaucoma" "Neovascular glaucoma is the most common type of secondary glaucoma, usually caused by diabetic retinopathy, central retinal vein occlusion and carotid artery obstruction but sometimes by trauma, uvietis or ocular tumors, and characterized by severe eye pain, synechial angle glaucoma, high intraocular pressure and leading to loss of vision." "" + "12q14 microdeletion syndrome" "12q14 microdeletion syndrome is characterised by mild intellectual deficit, failure to thrive, short stature and osteopoikilosis. It has been described in four unrelated patients. The syndrome appears to be caused by a heterozygous deletion at chromosome region 12q14, which was detected in three of the four patients. The deleted region contains the LEMD3 gene: mutations in this gene have already been implicated in osteopoikilosis." "" + "obsolete 15q24 microdeletion syndrome" "" "true" + "severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia" "Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia is characterised by severe intellectual deficit, epilepsy, hypoplasia of the terminal phalanges, and an anteriorly displaced anus. It has been described in two sisters born to consanguineous parents. The syndrome is transmitted as an autosomal recessive trait and appears to be caused by anomalies in to chromosome regions, one localised to chromosome 1 and the other to chromosome 14." "" + "cytophagic histiocytic panniculitis" "Cytophagic histiocytic panniculitis (CHP) is a very rare form of panniculitis manifesting as recurrent multiple subcutaneous nodules (which may progressively become ecchymotic and ulcerated), and histologically characterized by lobular panniculitis with lymphocytic and histiocytic infiltration in the subcutaneous adipose tissue." "" + "neuroleptic malignant syndrome" "Neuroleptic malignant syndrome (NMS) is an idiosyncratic condition associated with administration of antipsychotic and other central dopaminergic blockers, and characterized by hyperthermia, muscular rigidity, autonomic dysfunction and altered consciousness." "" + "recessive mitochondrial ataxia syndrome" "" + "acalvaria" "Acalvaria is a rare malformation defined as missing scalp and flat bones over an area of the cranial vault. The size of the affected area is variable. In rare cases, acalvaria involves the whole of the dome-like superior portion of the cranium comprising the frontal, parietal, and occipital bones. Dura mater and associated muscles are absent in the affected area but the central nervous system is usually unaffected, although some neuropathological abnormality is often present (e.g. holoprosencephaly or gyration anomalies). Skull base and facial bones are normal." "" + "obsolete acute hepatic porphyria" "" "true" + "hepatoerythropoietic porphyria" "Hepatoerythropioetic porphyria (HEP) is a very rare form of chronic hepatic porphyria characterized by bullous photodermatitis." "" + "secondary short bowel syndrome" "Secondary short bowel syndrome is an intestinal failure caused by any condition that results in a functional small intestine of less than 200 cm in length and is characterized by diarrhea, nutrient malabsoption, bowel dilation and dysmobility." "" + "tracheomalacia" "Congenital tracheomalacia is a rare condition where the trachea is soft and flexible causing the tracheal wall to collapse when exhaling, coughing or crying, that usually presents in infancy, and that is characterized by stridor and noisy breathing or upper respiratory infections. Tracheomalacia improves by the age of 18-24 months." "" + "twin to twin transfusion syndrome" "Twin twin transfusion syndrome (TTTS) is a rare condition seen in twin monochorionic pregnancies, typically developing during the 15-26 week gestation period and usually due to unbalanced intertwin placental anastomoses, where an unequal exchange of blood between twins causes oligohydramnios in one sac and polyhydramnios in the other which can lead to a high perinatal mortality rate and a high rate of disability in survivors if left untreated" "" + "mesocardia" "" + "aortic valve atresia" "A rare congenital heart defect characterized by the complete failure of the aortic valve to open. It is manifested during infancy with cyanosis, dyspnea, and rapidly progressing heart failure." "" + "congenital aortic valve insufficiency" "Dysfunction of the aortic valve characterized by incomplete valve closure that is present at birth." "" + "tricuspid valve agenesis" "" + "obsolete tricuspid valve prolapse" "" "true" + "congenital tricuspid stenosis" "" + "straddling or overriding tricuspid valve" "Straddling or overriding tricuspid valve is a rare, congenital, tricuspid valve malformation characterized by the tricuspid valve that overrides the ventricular septum and communicates with both ventricles, as part of the tension apparatus of the valve crosses the ventricular septal defect and is attached in the left ventricle. The anomaly occurs with other congenital heart defects (transposition of great vessels, left ventricle outflow tract obstruction, double outlet right ventricle, hypoplastic right ventricle), which determine the main clinical manifestation." "" + "accessory tricuspid valve tissue" "Accessory tricuspid valve tissue is a rare, congenital, atrioventricular valve malformation characterized by fixed or mobile accessory tissue on the tricuspid valve, usually associated with other complex congenital heart anomalies (atrial septal defect, ventricular septal defect, transposition of great arteries, tetralogy Fallot). It may present clinically with systolic murmur, dyspnea, cyanosis, depending also on accompanying congenital heart anomaly." "" + "anomaly of the tricuspid subvalvular apparatus" "" + "cleft mitral valve" "" + "double-orifice mitral valve" "" + "aneurysm or dilatation of ascending aorta" "" + "premature closure of the arterial duct" "Premature closure of the arterial duct is a rare arterial duct anomaly, defined as a significant constriction or closure of the fetal arterial duct in the absence of structural heart defects with pathognomonic features of increased right ventricular afterload, tricuspid regurgitation and, consequently, right atrial dilation and right ventricular hypertrophy. The severity of symptoms is related to the degree and rate of ductal constriction and ranges from mild postnatal respiratory distress to development of ventricular failure with fetal hydrops and intrauterine death or severe cardiopulmonary compromise in the postnatal period. It may be associated with a prenatal exposure to cyclooxygenase inhibitors or corticosteroids." "" + "congenital coronary artery aneurysm" "Congenital coronary artery aneurysm is a rare congenital coronary artery malformation defined as a more than 1.5 fold the normal size dilatation of a coronary artery segment with no identified underlying inflammatory or connective tissue disease. It may be asymptomatic or may present with angina pectoris, myocardial infarction, sudden cardiac death, fistula formation, pericardial tamponade, compression of surrounding structures, or congestive heart failure." "" + "abnormal origin or aberrant course of coronary artery" "" + "pituitary stalk interruption syndrome" "Pituitary stalk interruption syndrome (PSIS) is a congenital abnormality of the pituitary that is responsible for pituitary deficiency and is usually characterized by the triad of a very thin or interrupted pituitary stalk, an ectopic (or absent) posterior pituitary (EPP) and hypoplasia or aplasia of the anterior pituitary visible on MRI. In some patients the abnormality may be limited to EPP (also called ectopic neurohypophysis) or to an interrupted pituitary stalk." "" + "congenital anomaly of superior vena cava" "" + "congenital anomaly of the inferior vena cava" "" + "congenital anomaly of the coronary sinus" "" + "hypophysitis" "Inflammation of the pituitary gland." "" + "congenital anomaly of hepatic vein" "" + "atrial appendage anomaly" "" + "adenohypophysitis" "An autoimmune disease of the pituitary gland which can present with varying degrees of pituitary hormonal impairment and/or with symptoms related to pituitary enlargement. It predominantly affects young women in pregnancy or the peripartum period." "" + "panhypophysitis" "" + "acropectororenal dysplasia" "Acro-pectoro-renal field defect is a very rare association of a Poland anomaly, that is characterized by unilateral absence or hypoplasia of the pectoralis major muscle (most frequently involving the sternocostal head) and a variable degree of ipsilateral hand anomalies (including symbrachydactyly, brachydactyly, absent thumb and hypoplastic fingers), combined with a genito-urinary anomaly. Associated genito-urinary anomalies reported include renal hypoplasia or agenesis, duplex collecting system, ureteropelvic junction obstruction, hypospadias and undescended testicles." "" + "obsolete pituitary apoplexy" "" "true" + "iatrogenic or traumatic pituitary deficiency" "" + "acquired central diabetes insipidus" "Acquired central diabetes insipidus (acquired CDI) is a subtype of central diabetes insipidus (CDI), characterized by polyuria and polydipsia, due to an idiopathic or secondary decrease in vasopressin (AVP) production." "" + "obsolete congenital adrenal hypoplasia of maternal cause" "" "true" + "posterior hypospadias" "Posterior hypospadias is a rare, non-syndromic, urogenital tract malformation characterized by an ectopic urethral meatus opening located in the posterior penis, the penoscrotal junction, the scrotum or the perineum, which often appears stenotic. The scrotum might appear bifid in severe cases and micropenis is not commonly associated. Urinary tract malformations, such as ureteropelvic junction obstruction, vesicoureteric reflux, pelvic or horseshoe kidney, crossed renal ectopia, renal agenesis, may be observed." "" + "isolated micropenis" "" + "obsolete precocious puberty" "" "true" + "congenital hypothyroidism due to developmental anomaly" "Thyroid dysgenesis is a type of primary congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth." "True" + "thyroid ectopia" "Thyroid ectopia is a form of thyroid dysgenesis characterized by an ectopic location of the thyroid gland that results in primary congenital hypothyroidism, a permanent thyroid deficiency that is present from birth." "" + "athyreosis" "Athyreosis is a form of thyroid dysgenesis characterized by complete absence of thyroid tissue that results in primary congenital hypothyroidism, a permanent thyroid deficiency that is present from birth." "" + "congenital hypothyroidism due to transplacental passage of maternal TSH-binding inhibitory antibodies" "Congenital hypothyroidism due to transplacental passage of maternal thyroid-stimulating hormone (TSH)-binding inhibitory antibodies is a type of transient congenital hypothyroidism, a thyroid hormone deficiency that is not permanent." "" + "idiopathic congenital hypothyroidism" "Idiopathic congenital hypothyroidism is a type of primary congenital hypothyroidism whose cause and prevalence are unknown." "" + "thyroid hemiagenesis" "Thyroid hemiagenesis is a form of thyroid dysgenesis characterized by an absence of half of the thyroid gland that is usually asymptomatic but may result in primary congenital hypothyroidism, a permanent thyroid deficiency that is present from birth." "" + "thyroid hypoplasia" "Thyroid hypoplasia is a form of thyroid dysgenesis characterized by incomplete development of the thyroid gland that results in primary congenital hypothyroidism, a permanent thyroid deficiency that is present from birth." "" + "levocardia" "A condition where the heart is in the correct anatomic position but some or all of the other thoracoabdominal viscera are in the opposite lateral orientation." "" + "obsolete acro-renal-ocular syndrome" "" "true" + "tetrasomy 21" "Tetrasomy 21 is an extremely rare autosomal anomaly resulting from the presence of 4 copies of chromosome 21, characterized by features of trisomy 21 including developmental delay/intellectual disability, muscular hypotonia, short neck with redundant skin, brachycephaly, microcephaly, flat face, epicanthus, upslanted palpebral fissures, small ears, protruding tongue, single transverse palmar crease, brachydactyly, hypoplastic iliac wings, together with additional features such as prematurity, intrauterine growth retardation, high and broad forehead, hypertelorism. Haematological malignancies are also associated and may occur earlier than in trisomy 21." "" + "mosaic trisomy 4" "Mosaic Trisomy 4 is a rare autosomal anomaly, due to the presence of an extra copy of chromosome 4 in a fraction of all cells, with a variable phenotype characterized by intrauterine growth retardation, low birth weight/length/OFC, mild intellectual deficit, congenital heart defects, hypertrophic cardiomyopathy, dysmorphic features (asymmetry of the face, eyebrow anomalies, low-set, posteriorally rotated, dysplastic ears, micro-/retrognathia), characteristic thumb abnormalities (aplasia, hypoplasia) and skin abnormalities (hypo/hyperpigmentation). Delayed puberty may be associated." "" + "mosaic trisomy 5" "Mosaic trisomy 5 is a rare chromosomal anomaly syndrome with a variable phenotype ranging from clinically normal to patients presenting intrauterine growth retardation, congenital heart anomalies (mainly ventricular septal defect), multiple dysmorphic features (e.g. hypertelorism, prominent nasal bridge) and other congenital anomalies (incl. eventration of diaphragm, agenesis of corpus callosum, cloverleaf skull, clinodactyly, anteriorly placed anus). Psychomotor development may be normal in spite of low growth parameters being associated." "" + "mosaic trisomy 8" "Mosaic trisomy 8 is a chromosomal disorder defined by the presence of three copies of chromosome 8 in some cells of the organism. It is characterized by facial dysmorphism, mild intellectual deficit and joint, urinary, cardiac and skeletal anomalies." "" + "chromosome 8, trisomy" "A chromosomal abnormality consisting of the presence of a third copy of chromosome 8 in somatic cells." "" + "mosaic trisomy 10" "Mosaic trisomy 10 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, principally characterized by growth delay, craniofacial dysmorphism (incl. prominent forehead, hypertelorism, upslanting palpebral fissures, blepharophimosis, low-set malformed large ears, high arched palate, cleft lip/palate, retrognathia) and cardiac, renal and skeletal (e.g. radial ray defects, scoliosis) malformations, with death usually ocurring neonatally or in early infancy. Other reported features include central nervous system and ear anomalies, as well as facial clefts and anal atresia." "" + "mosaic trisomy 22" "Mosaic trisomy 22 isa chromosome disorder in which chromosome 22 is present three times, instead of the usual two times, in some cells of the body. The range and severity of the disorder can vary widely. Some of the features that have been associated with this conditioninclude growth delays,cognitive deficiencies, unequal developmentof the two sides of the body (hemidystrophy), webbing of the neck, abnormal deviation of the elbows when extended (cubitus valgus), multiple pigmented moles or birthmarks, distinctive malformations of the head and face, and other physical abnormalities. A number of cases of children with mosaic trisomy 22 and normal growth and development have also been described." "" + "trisomy 22" "Trisomy 22 is a chromosome disorder in which an extra (third) copy of chromosome 22 is present in every cell of the body where there should normally only be two copies. This condition is commonly found in miscarriages, but only rarely in liveborn infants. Most affected individuals die shortly before or shortly after birth due to severe complications. Common features include an underdeveloped midface (midface hypoplasia)with flat/broad nasal bridge, malformed ears with pits or tags, cleft palate, hypertelorism (wide-spaced eyes), microcephaly and other cranial abnormalities, congenital heart disease, genital abnormalities, and intrauterine growth restriction (IUGR)." "" + "distal trisomy 1p36" "Distal trisomy 1p36 is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 1, characterized by borderline to mild intellectual disability, mild developmental delay, metopic craniosynostosis and mild craniofacial dysmorphism (incl. slopping forehead, bitemporal narrowing, blepharophimosis). Other associated abnormalities may include growth retardation, microcephaly, large hands, syndactyly, supernumerary ribs, rectal stenosis and/or anterior displacement of anus. Congenital heart malformations (e.g. atrial septal defect, patent ductus arteriosus) have also been reported." "" + "distal trisomy 2p" "Distal trisomy 2p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 2, with a highly variable phenotype principally characterized by pre- and post-natal growth failure, global developmental delay, facial dysmorphism (incl. high forehead/frontal bossing, abnormal ear shape and/or position, hypertelorism/telecanthus, broad/depressed nasal bridge) and ocular anomalies (e.g. exophthalmos, retinal hypopigmentation, optic nerve and foveal hypoplasia). Other reported anomalies include generalized hypotonia, pectus excavatum, long fingers and toes, syndactyly, congenital heart (e.g. ventricular and atrial septal defects) and neural tube defects, seizures, pulmonary hypoplasia, diaphragmatic hernia and urogenital anomalies." "" + "distal trisomy 3p" "Distal trisomy 3p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 3, with highly variable phenotype principally characterized by craniofacial dysmorphism (incl. brachy-/microcephaly, square facies, frontal bossing, bitemporal indentation, hypertelorism/telecanthus, low-set and/or dysmorphic ears, short nose with broad, flat nasal bridge, prominent cheeks and philtrum, downturned corners of mouth, micrognathia/retrognathia, short neck) associated with psychomotor delay, moderate to severe intellectual disability, cardiac (e.g. patent ductus arteriosus) and urogenital (e.g. renal hypoplasia, hypogenitalism) abnormalities, as well as seizures and presence of whorls on fingers." "" + "4p16.3 microduplication syndrome" "4p16.3 microduplication syndrome is a rare genetic syndrome that results from the partial duplication of the short arm of chromosome 4. It has a highly variable phenotype, principally characterized by psychomotor and language delay, seizures and dysmorphic features such as high forehead with frontal bossing, hypertelorism, prominent glabella, long narrow palpebral fissures, low set ears and short neck. Eye abnormalities (glaucoma, irregular iris pigmentation, hyperopia) have also been reported." "" + "distal trisomy 7p" "Distal trisomy 7p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 7, with highly variable phenotype typically characterized by severe to profound psychomotor delay, intellectual disability, dysmorphic features (incl. dolichocephaly, microbrachycephaly, high and/or broad forehead, large anterior fontanel, hypertelorism, downslanting palpebral fissures, low-set, dysplastic ears, low, broad and prominent nasal bridge, abnormal palate, micro-/retrognathia), and hypotonia. Cardiovascular, gastrointestinal, skeletal and urogenital anomalies have commonly been reported." "" + "Beckwith-Wiedemann syndrome due to 11p15 microduplication" "" + "8p inverted duplication/deletion syndrome" "8p inverted duplication/deletion [invdupdel(8p)] syndrome is a rare chromosomal anomaly characterized clinically by mild to severe intellectual deficit, severe developmental delay (psychomotor and speech development), hypotonia with tendency to develop progressive hypertonia and severe orthopedic problems over time, minor facial anomalies and agenesis of the corpus callosum." "" + "distal trisomy 2q" "Distal trisomy 2q is a rare chromosomal anomaly, resulting from the partial duplication of the long arm of chromosome 2, characterized by moderate psychomotor delay, mild intellectual disability, facial dysmorphism (high hairline, prominent forehead, hypertelorism, upslanting palpebral fissures, large, low-set and/or posteriorly rotated ears, depressed/broad nasal bridge, prominent nasal tip, thin upper lip vermillion), clino-/camptodactyly and normal or increased body measurements. On occasion genital anomalies (hypospadias, cryptorchidism, shawl scrotum) and short stature may be observed." "" + "3q26 microduplication syndrome" "3q26 microduplication syndrome is a rare chromosomal anomaly characterized by prenatal and postnatal growth retardation, developmental delay, intellectual impairment, dysmorphic signs and variable combination of congenital anomalies, including cardiovascular, genitourinary and skeletal anomalies and spectrum of caudal malformations." "" + "distal trisomy 4q" "Distal trisomy 4q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 4, with highly variable phenotype typically characterized by psychomotor delay, intellectual disability, craniofacial dysmorphism (microcephaly, low-set, prominent ears, downslanting palpebral fissures, hypertelorism, epicanthic folds, broad, prominent nasal bridge, high arched and cleft palate, micro-/retrognathia), seizures, as well as tooth and digital anomalies (clinodactyly, polydactyly). Cardiac malformations, renal anomalies, cryptorchidism, hypotonia and hearing impairment have also been reported." "" + "distal trisomy 5q" "Distal trisomy 5q is a rare chromosomal anomaly syndrome, resulting from a partial duplication of the long arm of chromosome 5, characterized by short stature, moderate intellectual disability, and craniofacial dysmorphism (microcephaly, flat facies, large, low-set dysplastic ears, down-slanted, almond-shaped palpebral fissures, hypertelorism, epicanthal folds, small nose, long philtrum, small mouth with thin upper lip, and micrognathia). Patients also frequently present speech and cognitive delay, cardiac (ventriculomegaly, ventricular septum defect) and skeletal abnormalities (craniosynostosis, radial agenesis, ulnar hypoplasia, brachydactyly) and genital malformations (hypospadias, cryptorchidism)." "" + "distal trisomy 6q" "Distal trisomy 6q is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 6, with highly variable phenotype, typically characterized by growth and developmental delay, intellectual disability, craniofacial dysmorphism (microcephaly, flat facial profile, frontal bossing, hypertelorism, downward-slanting palpebral fissures, flat nasal bridge, anteverted nares, bow shaped mouth, micrognathia), short webbed neck and joint contractures. Cardiac, urogenital, ophthalmologic and hand and foot anomalies, as well as umbilical hernia, spasticity, and seizures, are other features that have been reported." "" + "distal trisomy 8q" "Distal trisomy 8q is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 8, with a highly variable phenotype, typically characterized by growth and developmental delay, intellectual disability, short stature, craniofacial dysmorphism (microcephaly, prominent forehead, hypertelorism, abnormal palpebral fissures, low-set, large ears, anteverted tip of nose, micro/retrognathia), congenital heart defects and skeletal and limb anomalies. Other reported features include ophthalmologic abnormalities (e.g. megalocornea), cryptorchidism, hypertrichosis, and neurologic manifestations (e.g. hypotonia, hearing loss, and seizures)." "" + "distal trisomy 9q" "Distal trisomy 9q is a rare chromosomal anomaly, resulting from the partial trisomy of the long arm of chromosome 9, with a variable phenotype mostly characterized by psychomotor and speech delay, intellectual disability, hypotonia, long narrow habitus, craniofacial dysmorphism (incl. micro/dolichocephaly, facial asymmetry, narrow palpebral fissures, deep-set eyes, strabismus, microphthalmia, abnormally shaped ears, microstomia, micro/retrognathia) and hand and feet anomalies (incl. arachnodactyly, camptodactyly, abnormal implantation of digits). Congenital flexion contractures and limited joint movements have also been observed." "" + "distal trisomy 10q" "Distal trisomy of the long arm of chromosome 10 (10q) is characterized by pre- and postnatal growth retardation, a pattern of specific facial features, hypotonia, and developmental and psychomotor delay." "" + "distal trisomy 11q" "Distal trisomy 11q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 11, with high phenotypic variability principally characterized by craniofacial dysmorphism (brachycephaly/plagiocephaly, low-set, posteriorly rotated ears, short philtrum, micrognathia) and intellectual disability. Short stature and seizures, as well as cardiac (e.g. atrial septal defect), skeletal (incl. brachy/syndactyly) and genital (e.g. micropenis, cryptorchidism) abnormalities may also be associated. Neurodevelopmental anomalies (pain insensitivity, sensorineural hearing loss, expressive language deficiency) and neuropsychiatric disorders (autistic features, auditory hallucination, self-talking) have also been reported." "" + "chromosome 11q trisomy" "" + "distal trisomy 13q" "Distal trisomy 13q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 13, with variable phenotype principally characterized by intellectual disability, psychomotor delay, craniofacial dysmorphism (incl. microcephaly, bushy eyebrows, long curled eyelashes, hypotelorism, low-set ears, prominent nasal bridge, long philtrum, high palate, thin upper lip), short neck, polydactyly, and hemangiomas. Cardiac, urogenital and neural tube defects, as well as umbilical and inguinal hernias, seizures and hypotonia, have also been reported." "" + "distal trisomy 16q" "Distal trisomy 16q is a rare chromosomal anomaly syndrome, resulting from the partial trisomy of the long arm of chromosome 16, with variable phenotype principally characterized by developmental delay, severe intellectual disability, hypotonia, facial dysmorphism (incl. high, prominent forehead, epicanthic folds, dysplastic ears, broad/depressed nasal bridge, malar hypoplasia, narrow and arched palate, thin upper lip vermilion, micrognathia) and hand/feet anomalies (e.g. arachnodactyly, talipes equinovarus). Cardiac defects, genitourinary malformations and vertebral anomalies are also associated. Thrombocytopenia and recurrent infections have also been reported." "" + "distal trisomy 20q" "Distal trisomy 20q is a rare chromosomal anomaly syndrome, resulting from the partial trisomy of the long arm of chromosome 20, with high phenotypic variability mostly characterized by neurodevelopmental delay, cardiac malformations (e.g. ventricular septal defect, coarctation of aorta) and facial dysmorphism (incl. large/high forehead, microphthalmia, upslanting palpebral fissures, epicanthus, large, long, low-set ears, anteverted nares, protruding upper lip, cleft lip/palate, micro/retrognathia, dimpled chin). Skeletal (brachydactyly, scoliosis, pectus excavatum) and cerebral anomalies have also been reported." "" + "distal trisomy 22q" "Distal trisomy 22q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 22, with variable phenotype principally characterized by varying degrees of intellectual disabilty and developmental delay, pre- and postnatal growth deficiency, hypotonia, and craniofacial dysmorphism (incl. microcephaly, hypertelorism, narrow and upslanted palpebral fissures, epicanthic folds, low-set dysplastic ears, broad and depressed nasal bridge, cleft lip an/or palate, long philtrum, retro/micrognathia). Congenital heart defects, as well as cerebral, skeletal, renal and genital anomalies, have also been reported." "" + "non-distal trisomy 9q" "Non-distal trisomy 9q is a rare chromosomal anomaly syndrome, resulting from the partial trisomy of the long arm of chromosome 9, with a highly variable phenotype principally characterized by developmental delay, short stature, intellectual disability, and craniofacial dysmorphism (e.g. microcephaly, broad forehead, low set ears, epicanthus, prominent nose, and retrognathia). Cardiac, ocular, thyroid and esophagus defects, as well as central nervous system and behavioral/psychiatric abnormalities, have also been reported." "" + "monosomy 22" "" + "distal monosomy 7p" "" + "distal monosomy 19p13.3" "Distal monosomy 19p13.3 is a rare chromosomal anomaly associated with a wide range of phenotypic features depending on the size of the deletion. It may present with intrauterine growth retardation, failure to thrive, global developmental delay, dysmorphic features (such as broad forehead, midface retrusion, broad nasal bridge, micrognathia, smooth philtrum, low-set, dysplastic ears), congenital anomalies (such as atrial septal defect, gastrointestinal anomalies, renal and urogenital malformations, agenesis of the corpus callosum) and other clinical features (such as hearing loss, visual impairment and immune dysregulation)." "" + "obsolete non-distal monosomy 7p" "" "true" + "distal monosomy 4q" "" + "Kleefstra syndrome due to 9q34 microdeletion" "" + "Kleefstra syndrome 1" "An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of EHMT1 on chromosome 9q34.3." "" + "distal monosomy 12q" "" + "distal monosomy 14q" "Distal monosomy 14q is a rare chromosomal anomaly associated with various phenotypic features depending on the size of the deletion. The clinical features may include global developmental delay, hypotonia, congenital heart defects, dysmorphic features (high forehead, small palpebral fissures, epicanthi, blepharophimosis, broad and flat nasal bridge, broad philtrum, thin upper lip, high arched palate, pointed chin, malformed ears). High-pitched, weak cry, seizures and various dental and oftalmological anomalies were also reported." "" + "distal monosomy 20q" "" + "non-distal monosomy 12q" "" + "non-distal monosomy 20q" "" + "monosomy 13q34" "Monosomy 13q34 is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 13, principally characterized by global developmental delay, mild intellectual disability, obesity and mild craniofacial dysmorphism (microcephaly, wide rectangular forehead, downslanting palpebral fissures, mild ptosis, prominent nose with long nasal bridge and broad tip, small chin). Other variable reported features include congenital heart defects, hand and foot anomalies (e.g. polydactyly) and agenesis of the corpus callosum." "" + "ring chromosome 2" "Ring chromosome 2 syndrome is a rare chromosomal anomaly syndrome with highly variable phenotype principally characterized by intrauterine growth retardation, failure to thrive, developmental delay, hypotonia, mild dysmorphic features (incl. microcephaly, short forehead, upslanting palpebral fissures, hypertelorism, epicanthal folds, wide nasal bridge, broad nasal tip, long philtrum, thin upper lip, micrognathia, short neck), skeletal anomalies (e.g. kyphosis, brachydactyly, clinodactyly, talipes equinovarus) and dermatological features (i.e. café-au-lait spots). Patients may also present ventriculoseptal defects and genital abnormalities (e.g. genital hypoplasia, phimosis, cryptorchidism)." "" + "ring chromosome 3" "Ring chromosome 3 syndrome is a rare chromosomal anomaly syndrome with a highly variable phenotype principally characterized by pre- and postnatal growth retardation, short stature, developmental delay, mild to severe intellectual disability, microcephaly and mild dysmorphic features (incl. triangular face, dysplastic ears, upslanting palpebral fissures, epicanthic folds, broad nasal bridge, full nasal tip, long philtrum, downturned corners of the mouth, and micro/retrognathia). Additional manifestations reported include hypotonia, mild articular limitation, hearing loss, digital anomalies (i.e. clinodacytyly, brachydactyly), café-au-lait patches and hypospadias." "" + "ring chromosome 9" "Ring chromosome 9 syndrome is an autosomal anomaly characterized by variable clinical features, most commonly including developmental delay, some degree of intellectual disability, facial dysmorphism, microcephaly, congenital heart anomalies, and variable genital, limb and skeletal anomalies." "" + "ring chromosome 11" "Ring chromosome 11 syndrome is an autosomal anomaly characterized by variable clinical features, including early growth retardation and short stature, microcephaly, developmental delay, some degree of intellectual disability, facial dysmorphism and café-au-lait spots. In some cases, congenital heart disease and endocrine abnormalities have been reported." "" + "ring chromosome 13" "Ring chromosome 13 is a chromosomal anomaly of chromosome 13 characterized by a widely variable phenotype (ranging from mild to severe) principally characterized by intrauterine growth retardation, developmental delay, short stature, moderate to severe intellectual deficit, microcephaly, facial dysmorphism (i.e. upslanting palpebral fissures, hypertelorism, abnormal ears, broad nasal bridge, high arched palate, micrognathia, small mouth, and thin lips), hands and feet anomalies, and genital abnormalities. Additional features reported include behavioral problems, hearing and speech disorders, congenital heart defects, cerebral malformations, and anal atresia." "" + "ring chromosome 15" "Ring chromosome 15 is a chromosome abnormality that affects growth, learning, and speech. People with ring chromosome 15 often have growth delays before and after birth, resulting in short stature; varying degrees of intellectual disability ; low muscle tone (hypotonia); craniofacial malformations; and limb abnormalities. Other symptoms might include congenital heart defects, kidney problems, congenital dislocation of the hips, and cafe-au-lait spots. Ring chromosome 15 is caused by an abnormal chromosome known as a ring chromosome 15 or r(15). A ring chromosome is a circular structure that occurs when a chromosome breaks in two places and the broken ends fuse together. The features of ring chromosome 15 appear to result from the loss (deletion) of genetic material from the long (q) arm of chromosome 15. Ring chromosome 15 is usually caused by spontaneous (de novo) errors very early in embryonic development. In rare cases, it is passed through families, either from a parent who also has a ring chromosome 15, or from a parent who has a balanced translocation. Treatment for ring chromosome 15 is focused on addressing the symptoms present in each individual and may require a team of medical specialists." "" + "ring chromosome 16" "Ring chromosome 16 is characterized bypostnatal growthdeficiency, intellectual disability, microcephaly, broad flat nasal bridge, down-turned mouth, low-set and dysmorphic (abnormally-shaped) ears and speech delay.To date, less than 10 cases have been reported in the medical literature." "" + "maternal uniparental disomy of chromosome 2" "Maternal uniparental disomy of chromosome 2 is an uniparental disomy of maternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier." "" + "maternal uniparental disomy of chromosome 4" "Maternal uniparental disomy of chromosome 4 is an uniparental disomy of maternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier." "" + "maternal uniparental disomy of chromosome 6" "Maternal uniparental disomy of chromosome 6 is an uniparental disomy of maternal origin characterized by intrauterine growth retardation. Homozygosity for a recessive disease mutation for which only a mother is a carrier may lead to other phenotypes." "" + "silver-Russell syndrome due to maternal uniparental disomy of chromosome 7" "Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 is a genetic malformation syndrome with short stature characterized by severe prenatal and postnatal growth retardation, feeding difficulties, body asymmetry, dysmorphic craniofacial features (triangular-shaped face, relative macrocephaly, frontal bossing, micrognathia, down-turned corners of the mouth) and other anomalies (fifth finger clinodactyly, café au lait macules, male genital anomalies, mild developmental delay and/or speech delay with movement disorders)." "" + "maternal uniparental disomy of chromosome 9" "Maternal uniparental disomy of chromosome 9 is an uniparental disomy of maternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier." "" + "maternal uniparental disomy of chromosome 14" "Maternal uniparental disomy of chromosome 14 is a rare chromosomal anomaly characterized by prenatal and postnatal growth retardation, hypotonia, motor delay, early puberty, obesity, short adult stature, small hands and feet, mild intellectual disability, and mild dysmorphic facial features (frontal bossing, short nose with wide nasal tip, micrognathia, high palate, short philtrum)." "" + "maternal uniparental disomy of chromosome 16" "" + "maternal uniparental disomy of chromosome 20" "Maternal uniparental disomy of chromosome 20 (UPD 20) is a very rare chromosomal anomaly in which both copies of chromosome 20 are inherited from the mother. The main feature described is prenatal and postnatal growth retardation. Microcephaly, minor dysmorphic features and psychomotor developmental delay have been occasionally reported. Maternal UPD20 is most often ascertained by a mosaic trisomy 20 pregnancy." "" + "maternal uniparental disomy of chromosome 21" "" + "maternal uniparental disomy of chromosome 22" "" + "paternal uniparental disomy of chromosome 5" "Paternal uniparental disomy of chromosome 5 is an uniparental disomy of paternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier." "" + "paternal uniparental disomy of chromosome 6" "Paternal uniparental disomy of chromosome 6 is an uniparental disomy of paternal origin characterized by intrauterine growth retardation, transient neonatal diabetes mellitus, and macroglossia." "" + "paternal uniparental disomy of chromosome 7" "Paternal uniparental disomy of chromosome 7 is an uniparental disomy of paternal origin that most likely do not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier (e.g., cystic fibrosis, congenital chloride diarrhea, sensorineural hearing loss)." "" + "Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11" "" + "paternal uniparental disomy of chromosome 20" "Paternal uniparental disomy of chromosome 20 is a very rare chromosomal anomaly in which both copies of chromosome 20 are inherited from the father. The main features described are high birth weight and/or early-onset obesity, relative macrocephaly, and tall stature. Most patients were ascertained during sporadic pseudohypoparathyroidism type 1b testing and have UPD involving variable segments of the long arm of chromosome 20." "" + "paternal uniparental disomy of chromosome 21" "Paternal uniparental disomy of chromosome 21 is an uniparental disomy of paternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier." "" + "X small rings" "X small rings is a rare chromosome X structural anomaly, with highly variable phenotype, principally characterized by developmental delay, intellectual disability, short stature, craniofacial dysmorphism (incl. microcephaly, facial asymmetry, hypertelorism, long palpebral fissures, epicanthus, low-set or malrotated ears, broad nose with a flat nasal bridge, anteverted nares, long philtrum, thin upper lip, high arched palate, micrognathia) and skeletal anomalies (e.g. cubitus valgus, talipes equinovarus). Patients may also present heart malformations (e.g. ventricular septal defects, mitral valve stenosis), sacral dimple, soft tissue syndactyly, pigmented nevi, and seizures." "" + "48,XXXY syndrome" "The 48,XXXY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of two extra X chromosomes in males." "" + "49,XXXXY syndrome" "The 49,XXXXY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of three extra X chromosomes in males." "" + "Leydig cell hypoplasia due to complete LH resistance" "" + "Leydig cell hypoplasia due to partial LH resistance" "" + "isolated partial vaginal agenesis" "Isolated partial vaginal agenesis is a rare, non-syndromic urogenital tract malformation characterized by the absence of a vagina or the presence of a vaginal dimple shorter than 5 cm. It is often associated with uterine agenesis, hematocolpos or primary amenorrhea and dyspareunia. Ovaries and fallopian tubes are normal." "" + "isochromosome Y" "" + "obsolete rare otorhinolaryngological malformation" "True" "true" + "obsolete rare gynecologic or obstetric disease" "True" "true" + "early-onset schizophrenia" "" + "hypertrichosis-acromegaloid facial appearance syndrome" "Hypertrichosis-acromegaloid facial appearance syndrome (HAFF) is a very rare multiple congenital abnormality syndrome manifesting from birth with progressive hypertrichosis congenita terminalis (thick scalp hair extending onto the forehead with generalized increased body hair) associated with a typical acromegaloid facial appearance (thick eyebrows, prominent supraorbital ridges, broad nasal bridge, anteverted nares, long and large philtrum, and prominent mouth with full lips) appearing during childhood. HAFF seems to belong to a spectrum of phenotypes with the clinically overlapping acromegaloid facial appearance syndrome and hypertrichotic osteochondrodysplasia, CantC9 type." "" + "hereditary continuous muscle fiber activity" "Hereditary continuous muscle fiber activity is a rare, non-dystrophic myopathy characterized by generalized myokymia and increased muscle tone associated with delayed motor milestones, leg stiffness, spastic gait, hyperreflexia and Babinski sign. Symptoms may be worsened by febrile illness or anesthesia." "" + "Eisenmenger syndrome" "Eisenmenger syndrome (ES) is an form of pulmonary arterial hypertension (PAH) associated with unoperated congenital heart disease and is characterized by congenital heart malformations with reversed or bi-directional shunting through an intra-cardiac or intervascular (usually aorto-pulmonary) communication with the development of PAH." "" + "solar urticaria" "Solar urticaria (SU) is a rare and difficult to treat photosensitive disease, in which local skin swelling occurs within minutes of exposure to natural sunlight or even artificial light sources emitting ultraviolet radiation." "" + "ligneous conjunctivitis" "Ligneous conjunctivitis (LC) is a rare form of chronic conjunctivitis characterised by the recurrent formation of pseudomembranous lesions most commonly on the palpebral surfaces. It is most frequently reported as a clinical manifestation of severe homozygous or compound-heterozygous hypoplasminogenemia." "" + "rippling muscle disease 2" "An autosomal dominant condition caused by mutation(s) in the CAV3 gene, encoding caveolin-3. It is characterized by mechanically triggered contractions of skeletal muscles. Limb-girdle muscular dystrophy type 1C is an allelic disorder with an overlapping phenotype." "" + "zebra body myopathy" "" + "mega-cisterna magna" "" + "GRFoma" "6cm and approximately 1/3 have metastasized at the time of diagnosis. It often co-occurs with Zollinger-Ellison syndrome or multiple endocrine neoplasia type 1 (MEN 1)." "" + "PPoma" "PPoma is a type of pancreatic endocrine tumor that hypersecretes pancreatic polypeptide (PP) but that does not cause a hypersecretion syndrome (is non-functioning) and instead presents with only non-specific symptoms such as weight loss, abdominal pain, jaundice, diarrhea and/or an abdominal mass, hence leading to a late diagnosis. PPoma can be associated with multiple endocrine neoplasia 1 (MEN-1)." "" + "obsolete insulinoma" "" "true" + "glucagonoma" "Glucagonoma is a rare, functioning type of pancreatic neuroendocrine tumor (PNET) that hypersecretes glucagon, leading to a syndrome comprised of necrolytic migratory erythema, diabetes mellitus, anemia, weight loss, mucosal abnormalities, thromboembolism, gastrointestinal and neuropsychiatric symptoms." "" + "obsolete somatostatinoma" "" "true" + "bronchial endocrine tumor" "A neuroendocrine neoplasm that involves the bronchus." "" + "thymic neuroendocrine tumor" "Thymic endocrine tumor is a rare, malignant, primary thymic neoplasm originating from neuroendocrine cells, presenting as a mass within the anterior mediastinum. Patients typically present with nonspecific symptoms, such as chest pain, cough, shortness of breath, or in some cases, superior vena cava syndrome, although patients could be asymptomatic during the early stages or present with multiple endocrine neoplasia type I. Ectopic production of ACTH and serotonin can lead to Cushing syndrome and carcinoid sydrome, respectively." "" + "obsolete rare benign ovarian tumor" "Any of the forms of ovarian benign neoplasm that have a rare incidence." "True" "true" + "obsolete thoracic outlet syndrome" "" "true" + "Kienbock disease" "Kienbock disease is a rare bone disorder of unknown etiology characterized clinically by osteonecrosis of the carpal lunate, eventually leading to collapse of the lunate bone impacting wrist function." "" + "obsolete Osgood-Schlatter disease" "" "true" + "panner disease" "Panner's disease is an osteochondrosis of the capitellum of the humerus, characterised by involvement of the dominant upper limb and onset before the age of 10 years. It results from lateral compression injuries of the elbow typically occurring in children practising sports such as baseball and throw. It should be distinguished from osteochondritis dissecans of the capitellum, occurring later, in adolescents. Management is symptomatic and consists in reducing the activities of the affected elbow for a prolonged period of time. Prognosis is good." "" + "Sinding-Larsen-Johansson disease" "Sinding-Larsen-Johansson disease is a type of osteochondrosis affecting the attachment of the patellar tendon to the patella and characterised by tenderness and localized swelling of the patella." "" + "melanoma of soft tissue" "" + "dural sinus malformation" "" + "persistent placoid maculopathy" "Persistent placoid maculopathy is characterised by white plaque-like lesions involving the macula but sparing the peripapillary areas of both eyes. It has been described in five patients. In contrast to patients with macular serpiginous choroiditis presenting with similar lesions, the five patients reported so far with persistent placoid maculopathy had good visual acuity until the onset of choroidal neovascularization (CNV) or pigmentary mottling. The macular lesions fade after several months or years, but the vascular anomalies persist leading to a loss of central vision." "" + "obsolete postencephalitic parkinsonism" "" "true" + "pellagra" "Pellagra is a nutritional disorder caused by a deficiency in niacin (vitamin B3) or its precursor (tryptophan) that is mainly observed in Asia and Africa where it is generally due to poor nutrition. It is characterized by dermatitis (symmetrical photodistributed erythema that may be accompanied by vesicles and bullae, and that develops into hyperkeratotic and hyperpigmented skin), gastrointestinal symptoms (diarrhea), and neuropsychiatric disorders (dementia). It can be life-threatening without a correct management." "" + "dementia pugilistica" "Conditions characterized by persistent brain damage or dysfunction as sequelae of cranial trauma. This disorder may result from diffuse axonal injury; intracranial hemorrhages; brain edema; and other conditions. Clinical features may include dementia; focal neurologic deficits; persistent vegetative state; akinetic mutism; or coma." "" + "parkinsonism with dementia of Guadeloupe" "Parkinsonism with dementia of Guadeloupe is characterised by symmetrical bradykinesia, predominantly axial rigidity, postural instability with early falls and cognitive decline with prominent features of frontal lobe dysfunction." "" + "renal hypoplasia, unilateral" "Unilateral renal hypoplasia is a form of renal hypoplasia, a renal developmental anomaly in which one kidney is small and has a deficit in the number of nephrons present." "" + "renal hypoplasia, bilateral" "Bilateral renal hypoplasia is a form of renal hypoplasia, a renal developmental anomaly in which both kidneys are small and have a deficit in the number of nephrons present." "" + "unilateral multicystic dysplastic kidney" "Unilateral multicystic dysplastic kidney is the form of multicystic dysplastic kidney (MCDK), a congenital anomaly of the kidney and urinary tract (CAKUT), in which one kidney is large, distended by multiple cysts, and non-functional." "" + "bilateral multicystic dysplastic kidney" "Bilateral multicystic dysplastic kidney (MCDK) is a lethal form of multicystic dysplastic kidney (MCDK), a congenital anomaly of the kidney and urinary tract (CAKUT), in which both kidneys are large, distended by non-communicating multiple cysts and non-functional." "" + "multiloculated renal cyst" "" + "renal tubular dysgenesis due to twin-twin transfusion" "'Renal tubular dysgenesis due to twin-twin transfusion syndrome (TTTS) is an acquired form of renal tubular dysgenesis that develops in donor fetuses due to the uneven shunting of growth factor and nutrients to the kidney of the recipient and is characterized by absent or poorly developed proximal tubules, persistent oligohydramnios and consequently the Potter sequence (facial dysmorphism with large and flat low-set ears, lung hypoplasia, arthrogryposis and limb positioning defects).'" "" + "drug-related renal tubular dysgenesis" "" + "sporadic idiopathic steroid-resistant nephrotic syndrome with collapsing glomerulopathy" "" + "obsolete congenital and infantile nephrotic syndrome" "" "true" + "pauci-immune glomerulonephritis with ANCA" "Pauci-immune glomerulonephritis (GN) with antineutrophil cytoplasmic antibodies (ANCA) is a form of rapidly progressive GN comprising about 90% of pauci-immune glomerulonephritis, and associated with the presence of circulating ANCA (mostly directed against proteinase-3 (PR3) and myeloperoxidase (MPO)). Patients usually present with hematuria and rapidly declining renal function, often leading to dialysis within weeks without treatment. Cutaneous, pulmonary, musculoskeletal and nervous involvement may be observed in case of systemic disease, and the correlation between ANCA titer and disease activity has been demonstrated." "" + "pauci-immune glomerulonephritis without ANCA" "Pauci-immune glomerulonephritis (GN) without antineutrophilic cytoplasmic antibodies (ANCA) is a form of rapidly progressive glomerulonephritis comprising 10-43% of pauci-immune glomerulonephritis and characterized by the absence of ANCA. In comparison with pauci-immune GN with ANCA, patients lacking ANCA may be younger at onset of the disease and have a shorter interval from onset of the disease to diagnosis. They have fewer extra renal manifestations (e.g. involvement of lung, eye, ear, nose and throat), fewer constitutional symptoms (e.g. fever, weight loss, muscle pain and arthralgia) and a high prevalence of nephrotic syndrome and chronic renal lesions. Their prognosis is generally poorer." "" + "non-amyloid fibrillary glomerulopathy" "Non-amyloid fibrillary glomerulopathy (non-amyloid FGP) is a rare cause of glomerulonephritis (GN) characterized by glomerular accumulation of non-amyloid fibrils in the mesangium and the glomerular (and rarely tubular) basement membrane, that mainly presents with renal insufficiency, micro-hematuria and nephrotic range proteinuria. Non-amyloid FGP and immunotactoid glomerulopathy (ITG) are often grouped together as pathogenetically related diseases." "" + "immunotactoid glomerulopathy" "Immunotactoid glomerulopathy (ITG) is a very rare condition characterized by glomerular accumulation of microtubules in the mesangium and the glomerular basement membrane, that mainly presents with proteinuria, micro-hematuria, nephrotic syndrome, renal insufficiency and hematologic malignancy. ITG and non-amyloid fibrillary glomerulopathy (non-amyloid FGP) are often grouped together as pathogenetically related diseases." "" + "congenital renal artery stenosis" "A narrowing of renal arteries that is present since birth." "" + "maternal uniparental disomy of chromosome 13" "Maternal uniparental disomy of chromosome 13 is an uniparental disomy of maternal origin that most likely do not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier." "" + "obsolete rare cardiac disease" "Rare heart disease." "True" "true" + "obsolete rare gastroenterologic disease" "True" "true" + "obsolete rare respiratory disease" "Rare respiratory system disease." "True" "true" + "obsolete rare surgical thoracic disease" "True" "true" + "obsolete rare surgical cardiac disease" "True" "true" + "obsolete rare eye disease" "Rare eye disease." "True" "true" + "obsolete rare endocrine disease" "Rare endocrine system disease." "True" "true" + "obsolete rare hematologic disease" "" "true" + "absence of the pulmonary artery" "Unilateral absence of the pulmonary artery (UAPA) is a rare congenital great vessels anomaly that commonly presents by dyspnea, frequent respiratory infections, hemoptysis and high-altitude pulmonary edema. UAPA is often associated with congenital heart malformation (CHM). In the absence of associated cardiac malformation (isolated UAPA; IUAPA), the condition may be asymptomatic until adult age." "" + "obsolete rare immune disease" "Rare immune system disease." "True" "true" + "obsolete rare neurologic disease" "Rare nervous system disease." "True" "true" + "obsolete rare headache disorder" "Rare headache disorder." "True" "true" + "obsolete systemic or rheumatic disease" "" "true" + "obsolete rare odontologic disease" "True" "true" + "obsolete rare disease with odontological manifestation" "True" "true" + "obsolete rare neurologic disease with psychiatric involvement" "True" "true" + "obsolete rare otorhinolaryngologic disease" "Any of the forms of otorhinolaryngologic disease that have a rare incidence." "True" "true" + "obsolete rare infertility" "Rare infertility." "True" "true" + "obsolete rare male infertility" "Rare male infertility." "True" "true" + "obsolete rare female infertility" "Rare female infertility." "True" "true" + "obsolete rare allergic disease" "Rare allergic hypersensitivity disease." "True" "true" + "obsolete rare allergic respiratory disease" "Rare respiratory allergy." "True" "true" + "obsolete rare genetic cardiac disease" "Rare genetic heart disease." "True" "true" + "obsolete rare genetic renal disease" "True" "true" + "obsolete rare tumor" "Rare disease of cellular proliferation." "True" "true" + "obsolete rare urinary tract tumor" "Rare urinary system benign neoplasm." "True" "true" + "obsolete rare digestive tumor" "Any of the forms of digestive system neoplasm that have a rare incidence." "True" "true" + "obsolete rare respiratory tract neoplasm" "Any of the forms of respiratory tract neoplasm that have a rare incidence." "True" "true" + "obsolete rare nervous system tumor" "Rare nervous system cancer." "True" "true" + "obsolete rare gynecological tumor" "Rare female reproductive system neoplasm." "True" "true" + "obsolete gonadal dysgenesis of gynecological interest" "" "true" + "internal carotid agenesis" "Internal carotid artery (ICA) agenesis (uni or bilateral) is a developmental defect that may be asymptomatic or lead to cerebrovascular lesions. It is a rare malformation, with only around hundred cases reported in the literature. When symptoms are present, they are caused by cerebrovascular insufficiency, compression of the brain by vessels that dilate to compensate for the absence of the ICA, or the presence of an aneurysm. Associated intracranial aneurysms occur in 25 to 35% of patients and are often responsible for intracranial hemorrhage, which may present as the initial symptom. The absence of the ICA is the result of either agenesis or aplasia. The term agenesis is used when both the ICA and its bony canal are absent, whereas there is some evidence of carotid canals in cases of aplasia. The absence of the ICA can be detected by angiography or by computerised tomography." "" + "autosomal trisomy" "A chromosomal abnormality consisting of the presence of one chromosome in addition to the normal diploid number." "" + "gonosome anomaly" "" + "gonosome structural anomaly" "" + "myelodysplastic/myeloproliferative disease" "Clonal myeloid disorders that possess both dysplastic and proliferative features but are not properly classified as either MYELODYSPLASTIC SYNDROMES or MYELOPROLIFERATIVE disorderS." "" + "obsolete plasma cell tumor" "" "true" + "obsolete histiocytic and dendritic cell tumor" "" "true" + "lymphoproliferative disease associated with primary immune disease" "" + "obsolete mastocytosis" "" "true" + "obsolete idiopathic interstitial pneumonia" "" "true" + "obsolete rare idiopathic male infertility" "" "true" + "obsolete autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature" "Autosomal dominant form of disease with diffuse palmoplantar keratoderma as a major feature." "True" "true" + "obsolete autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature" "Autosomal dominant form of disease with focal palmoplantar keratoderma as a major feature." "True" "true" + "obsolete autosomal recessive disease with focal palmoplantar keratoderma as a major feature" "Autosomal recessive form of disease with focal palmoplantar keratoderma as a major feature." "True" "true" + "obsolete rare hemolytic anemia" "Rare hemolytic anemia." "True" "true" + "obsolete rare constitutional hemolytic anemia due to an enzyme disorder" "True" "true" + "non-autoimmune hemolytic anemia" "Hemolytic anemia that is not mediated by immune mechanisms." "" + "pulmonary agenesis" "An uncommon congenital abnormality characterized by either lethal complete absence of the lungs or varying degrees of underdevelopment of the lung parenchyma. It may be associated with other congenital abnormalities." "" + "obsolete polycythemia" "" "true" + "obsolete rare blood coagulation disease" "Any of the forms of blood coagulation disease that have a rare incidence." "True" "true" + "idiopathic inflammatory myopathy" "Idiopathic form of inflammatory myopathy." "" + "synaptopathy" "A disease caused by dysfunction of synapses." "" + "obsolete rare peripheral neuropathy" "Rare peripheral neuropathy." "True" "true" + "obsolete neurodegenerative disease with dementia" "" "true" + "obsolete early-onset ataxia with dementia" "" "true" + "obsolete late-onset ataxia with dementia" "" "true" + "obsolete rare eye disease due to a differentiation anomaly" "True" "true" + "obsolete obsolete rare palpebral, lacrimal system and conjunctival disease" "" "true" + "obsolete rare palpebral disease" "Any of the forms of eyelid disease that have a rare incidence." "" "true" + "obsolete rare eyelid malformation" "True" "true" + "epicanthal fold" "" + "obsolete telecanthus" "" "true" + "obsolete kinetic eyelid anomaly" "" "true" + "obsolete congenital upper palpebral retraction" "" "true" + "obsolete palpebral tumor" "" "true" + "palpebral epidermal tumor" "A neoplasm (disease) that involves the skin of eyelid." "" + "lentigo" "A flat, benign, pigmented spot on the skin caused by excessive deposition of melanin from an increased number of melanocytes in the cell layer directly above the basement membrane of the epidermis. Formation is usually related to sun exposure during youth, and the lesions do not typically progress to malignancy." "" + "neurogenic palpebral tumor" "" + "obsolete rare eyebrow/eyelashes anomaly" "" "true" + "obsolete eyelashes hypertrophy" "" "true" + "obsolete rare lacrimal system disease" "Any of the forms of lacrimal apparatus disease that have a rare incidence." "True" "true" + "secretory apparatus of the lacrimal system anomaly" "" + "anomaly of the secretory and excretory apparatus of the lacrimal system" "" + "obsolete rare conjunctival disease" "Rare conjunctival disease." "" "true" + "obsolete conjunctival vascular anomaly" "" "true" + "obsolete conjunctival hemangioma or hemolymphangioma" "" "true" + "obsolete conjunctival telangiectasia" "" "true" + "obsolete conjunctival lymphangiectasia" "" "true" + "obsolete rare refraction anomaly" "True" "true" + "obsolete rare isolated myopia" "Rare isolated myopia is a rare, genetic, refraction anomaly disorder characterized by non-syndromic severe myopia, which may be associated with cataract and vitreoretinal degeneration (retinal detachment) that may lead to blindness." "True" "true" + "obsolete rare hyperopia and astigmatism" "True" "true" + "obsolete rare disease with glaucoma as a major feature" "True" "true" + "obsolete lens and zonula anomaly" "True" "true" + "obsolete rare cataract" "Rare cataract." "True" "true" + "obsolete systemic disease with cataract" "" "true" + "obsolete color-vision disease" "" "true" + "obsolete unclassified familial retinal dystrophy" "" "true" + "obsolete colobomatous and areolar dystrophy" "" "true" + "obsolete rare strabismus and restriction syndrome" "True" "true" + "essential strabismus" "" + "obsolete craniostenosis associated with a strabismus" "" "true" + "obsolete oculomotor palsy" "" "true" + "obsolete oculomotor apraxia or related oculomotor disease" "" "true" + "obsolete neurological disease with abnormal eye movements" "" "true" + "obsolete nervous system anomaly with eye involvement" "" "true" + "obsolete spinocerebellar ataxia with oculomotor anomaly" "" "true" + "obsolete spinocerebellar degenerescence and spastic paraparesis with an oculomotor anomaly" "" "true" + "metabolic disease associated with ocular features" "True" + "obsolete ichthyosis associated with ocular features" "" "true" + "obsolete syndromic ichthyosis associated with ocular features" "A ichthyosis associated with ocular features that is part of a larger syndrome." "" "true" + "pigmentation disorder with eye involvement" "True" + "obsolete phakomatosis with eye involvement" "" "true" + "obsolete connective tissue disease with eye involvement" "" "true" + "obsolete ectodermal malformation syndrome associated with ocular features" "" "true" + "Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15" "" + "obsolete spinocerebellar ataxia type 15/16" "" "true" + "Angelman syndrome due to maternal 15q11q13 deletion" "" + "Angelman syndrome due to paternal uniparental disomy of chromosome 15" "" + "isochromosomy Yp" "Isochromosomy Yp is a rare gonosome anomaly characterized by various clinical presentations including normal healthy fertile males, male phenotype with infertility, and males with ambiguous genitalia or incomplete masculinization." "" + "isochromosomy Yq" "Isochromosomy Yq is a rare gonosomy anomaly with a variable phenotype including a female phenotype with sexual development delay, streak gonads, short stature and Turner syndrome features and male phenotype with infertility due to azoospermia." "" + "absent tibia-polydactyly syndrome" "Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome is a rare, genetic dysostosis syndrome, with marked inter- and intra-familial variation, typically characterized by triphalangeal thumbs, hand and/or foot polysyndactyly and/or absent/hypoplastic tibiae (associated with duplication of fibulae in some cases), although isolated triphalangeal thumbs have also been reported. It is often accompanied with remarkable short stature and additional features may include radio-ulnar synostosis and hand oligodactyly, as well as abnormal carpal and metatarsal bones." "" + "benign childhood occipital epilepsy, Panayiotopoulos type" "Benign childhood occipital epilepsy, Panayiotopoulos type is a rare, genetic neurological disorder characterized by late infancy to early-adolescence onset of prolonged, nocturnal seizures which begin with autonomic features (e.g. vomiting, pallor, sweating) and associate tonic eye deviation, impairment of consciousness and may evolve to a hemi-clonic or generalized convulsion. Autonomic status epilepticus may be the only clinical event in some cases." "" + "benign childhood occipital epilepsy, Gastaut type" "Benign childhood occipital epilepsy, Gastaut type is a rare, genetic neurological disorder characterized by childhood to mid-adolescence onset of frequent, brief, diurnal simple partial seizures which usually begin with visual hallucinations (e.g. phosphenes) and/or ictal blindness and may associate non visual seizures (such as deviation of the eyes, oculoclonic seizures), forced eyelid closure and blinking and sensory hallucinations. Post-ictal headache is common while impairment of consciousness is rare." "" + "obsolete Landau-Kleffner syndrome" "" "true" + "atypical chronic myeloid leukemia" "" + "obsolete unclassified myelodysplastic/myeloproliferative disease" "" "true" + "obsolete refractory anemia" "" "true" + "obsolete unclassified myelodysplastic syndrome" "Unclassified myelodysplastic syndrome (MDS-U) is a subtype of myelodysplastic syndrome (MDS) with atypical features of uncertain clinical significance." "" "true" + "acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)" "Acute myelomonocytic leukemia (AMML) is a cancer that typically develops in the bone marrow and blood of older individuals.AMML is one type of acute myeloid leukemia, a group of blood cancers that occur when the amount of white blood cells increases rapidly. Symptoms of AMML often include fatigue (due to anemia) or easy bruising or bleeding (due to thrombocytopenia). The cause of AMML is currently unknown. Treatment typically consists of chemotherapy." "" + "acute myeloid leukemia with 11q23 abnormalities" "An acute myeloid leukemia associated with t(9;11)(p22.3;q23.3) and MLLT3-KMT2A fusion protein expression. Morphologically it usually has monocytic features. It may present at any age but it is more commonly seen in children. Patients may present with disseminated intravascular coagulation." "" + "" "true" + "obsolete acute myeloblastic leukemia without maturation" "" "true" + "acute myeloblastic leukemia with maturation" "An acute myeloid leukemia (AML) characterized by blasts with evidence of maturation to more mature neutrophils. (WHO, 2001)" "" + "acute undifferentiated leukemia" "A rare acute leukemia of ambiguous lineage in which the blasts do not express markers specific to myeloid or lymphoid lineage." "" + "acute biphenotypic leukemia" "An acute leukemia of ambiguous lineage characterized by blasts which coexpress myeloid and T or B lineage antigens or concurrent B and T lineage antigens. (WHO, 2001)" "" + "mixed phenotype acute leukemia" "An acute leukemia of ambiguous lineage. It is characterized by the presence of either separate populations of blasts of more than one lineage, or one population of blasts co-expressing markers of more than one lineage." "" + "primary mediastinal large B-cell lymphoma" "A large B-cell non-Hodgkin lymphoma arising in the mediastinum. Morphologically it is characterized by a massive diffuse lymphocytic proliferation associated with compartmentalizing fibrosis. Response to intensive chemotherapy, with or without radiotherapy, is usually good. (WHO, 2001)" "" + "intravascular large B-cell lymphoma" "Intravascular large B-cell lymphoma (IVLBCL) is a very rare form of diffuse large B-cell lymphoma characterized by the selective growth of lymphoma cells within the lumina of small blood vessels (especially the capillaries) that most often presents with a wide range of clinical manifestations (as potentially any tissue can be involved), with patients from Western countries more frequently manifesting with neurological and cutaneous symptoms while patients from Asian countries more frequently displaying hepatosplenomegaly and thrombocytopenia. IVLBCL is characterized by an absence of lymphadenopathy, an aggressive clinical course and a poor prognosis." "" + "lymphomatoid papulosis" "Lymphomatoid papulosis (LyP) is a rare cutaneous condition characterized by chronic, recurrent, and self-regressing papulonodular skin eruptions. It belongs to the spectrum of primary cutaneous CD30+ lymphoproliferative disorders, along with primary cutaneous anaplastic large cell lymphoma (primary C-ALCL) with which it shares overlapping clinical and histopathologic features." "" + "classic Hodgkin lymphoma, nodular sclerosis type" "" + "obsolete classic Hodgkin lymphoma, mixed cellularity type" "" "true" + "obsolete classic Hodgkin lymphoma, lymphocyte-rich type" "" "true" + "obsolete classic Hodgkin lymphoma, lymphocyte-depleted type" "" "true" + "systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease" "Systemic mastocytosis with an associated clonal hematological non-mast cell lineage disease is a form of systemic mastocytosis (SM) associated with malignancy (other than mast cell leukemia)." "" + "mast cell leukemia" "Mast cell leukemia is a malignant form of systemic mastocytosis (SM) characterized, most of the time, by the presence of circulating mast cells." "" + "obsolete desquamative interstitial pneumonia" "" "true" + "adult pure red cell aplasia" "Adult pure red cell aplasia is a rare acquired aplastic anemia characterized by a severe normocytic anemia with normal peripheral leukocyte and platelet counts, reticulocytopenia, high serum ferritin and transferrin saturation levels and isolated, almost complete absence of erythroblasts in the bone marrow with normal granulopoesis and megakaryopoesis. It presents with signs of severe anemia (fatigue, lethargy, pallor, intolerance of physical exercise and exertional dyspnea) in the absence of hemorrhagic symptoms." "" + "congenital myopathy with excess of thin filaments" "" + "acute inflammatory demyelinating polyradiculoneuropathy" "An inflammatory neuropathy belonging to the clinical spectrum of Guillain-Barre syndrome (GBS)." "" + "acute motor and sensory axonal neuropathy" "Acute motor-sensory axonal neuropathy (AMSAN) is a motor-sensory, axonal form of Guillain-BarrC) syndrome (GBS)." "" + "acute motor axonal neuropathy" "Acute motor axonal neuropathy (AMAN) is a pure motor axonal form of Guillain-BarrC) syndrome (GBS)." "" + "obsolete Miller-Fisher syndrome" "" "true" + "Blake pouch cyst" "Blake pouch cyst is a non-syndromic, usually benign, cystic malformation of the posterior fossa characterized by a midline outpouching of the superior medullary velum into the cisterna magna that results from failure of the rudimental fourth ventricular tela choroidea to regress during embryogenesis. Patients can be asymptomatic or present in childhood or adulthood with clinical manifestations of hydrocephalus, such as headache, hypotonia, vertigo, syncope, vomiting, blurred or double vision, nystagmus, papilledema, and delayed gait development." "" + "multiple system atrophy, parkinsonian type" "Multiple system atrophy, parkinsonian type (MSA-p) is a form of multiple system atrophy (MSA) with predominant parkinsonian features (bradykinesia, rigidity, irregular jerky postural tremor, and postural instability)." "" + "von Hippel anomaly" "" + "coloboma of choroid and retina" "Coloboma of choroid and retina is a rare, genetic developmental defect during embryogenesis characterized by the partial absence of retinal pigment epithelium and choroid, most frequently located in the inferonasal quadrant. Patients usually present reduced vision and have an increased risk for retinal detachment. Other ocular anomalies (e.g. coloboma of iris, microcornea, nystagmus, strabismus, microphthalmos) are usually associated, however it may also be isolated." "" + "coloboma of eye lens" "" + "coloboma of iris" "A congenital or acquired defect characterized by the presence of a hole in or adjacent to the iris." "" + "coloboma of eyelid" "A congenital abnormality in which a part of the upper or lower eyelid tissue is missing." "" + "coloboma of optic disc" "Coloboma of optic disc is a rare, genetic, developmental defect of the eye characterized by a unilateral or bilateral, sharply demarcated, bowl-shaped, glistening white excavation on the optic disc (typically decentered inferiorly) which usually manifests with varying degrees of reduced visual acuity. It can occur isolated or may associate other ocular (e.g. retinal detachment, retinoschisis-like separation) or systemic anomalies (e.g. renal)." "" + "congenital symblepharon" "" + "complete cryptophthalmia" "" + "partial cryptophthalmia" "" + "inverse Marcus-Gunn phenomenon" "Inverse Marcus-Gunn phenomenon is a rare congenital synkinesis where jaw opening by the pterygoid muscle (during eating or yawning) causes eyelid drooping from inhibition of the oculomotor nerve to the levator palpebrae superioris. Familial occurrence has been reported." "" + "honey-droplet corneal dystrophy" "" + "congenital hereditary endothelial dystrophy type I" "Congenital hereditary endothelial dystrophy I (CHED I) is a rare subtype of posterior corneal dystrophy characterized by a diffuse ground-glass appearance of the corneas and marked corneal thickening from birth or infancy without nystagmus, with blurred vision." "" + "Axenfeld anomaly" "Axenfeld's anomaly is a rare congenital ocular defect caused by anterior segment dysgenesis and is characterized by anteriorly displaced SchwalbeBs line and iris bands extending into the cornea. In contrast, RiegerBs anomaly includes characteristic iris and pupil anomalies." "" + "Chandler syndrome" "Chandler syndrome, the most frequent clinical variant of iridocorneal endothelial (ICE) syndrome, is characterized by very few iris abnormalities but more severe corneal edema and less severe secondary glaucoma than seen in the other two ICE syndrome variants: Cogan-Reese syndrome and essential iris atrophy." "" + "Cogan-Reese syndrome" "Cogan-Reese syndrome is a clinical variant of iridocorneal endothelial (ICE) syndrome characterized by variable iris atrophy, pigmented and pedunculated nodules on the iris and corneal abonormalities. Secondary glaucoma is also a common complication of the disease." "" + "essential iris atrophy" "Essential iris atrophy is a clinical variant of iridocorneal endothelial (ICE) syndrome, characterized by progressive iris atrophy and holes present on the surface of the iris, corneal edema, corectopia, uveal ectropion and anterior synechiae. Secondary glaucoma is also a common complication of the disease." "" + "early-onset posterior polar cataract" "" + "multifocal pattern dystrophy simulating fundus flavimaculatus" "Multifocal pattern dystrophy simulating fundus flavimaculatus is a patterned dystrophy of the retinal pigment epithelium characterized by multiple yellowish irregular flecks scattered or interconnected around the macula, simulating what is observed in Stargardt disease, and usually asymptomatic until adulthood when patients present with a slowly progressive loss of vision that often only becomes apparent in old age." "" + "fundus pulverulentus" "Fundus pulverulentus is a rare form of patterned dystrophy of the retinal pigment epithelium characterized by a granular appearance in the macula, with coarse and punctiform mottling of the retinal pigment epithelium within the macular region. Association with choroidal neovascularization has been reported." "" + "Niemann-Pick disease type E" "Niemann-Pick disease, type E is a poorly defined adult-onset and non-neuronopathic form of Niemann-Pick disease." "" + "congenitally uncorrected transposition of the great arteries with coarctation" "" + "double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis" "" + "double outlet right ventricle with subpulmonary ventricular septal defect" "" + "double outlet right ventricle with non-committed subpulmonary ventricular septal defect" "" + "pulmonary valve agenesis-ventricular septal defect-persistent ductus arteriosus syndrome" "" + "pulmonary artery coming from patent ductus arteriosus" "" + "pulmonary artery coming from the aorta" "Pulmonary artery coming from the aorta (PACA) is a cardiac malformation characterized by anomalous origin of one branch of the pulmonary arteries from the ascending aorta and a normal origin of the other pulmonary artery from the right ventricular outflow tract, and presenting with respiratory distress, congestive heart failure and failure to thrive within the first days/months of life." "" + "discrete fibromuscular subaortic stenosis" "" + "tunnel subaortic stenosis" "" + "valvar pulmonary stenosis" "A congenital cardiovascular malformation of the pulmonary valve in which there is narrowing or stricture (obstruction to flow)." "" + "anomaly of the tricuspid valve chordae" "Anomaly of the tricuspid valve chordae is a rare, congenital anomaly of the tricuspid subvalvular apparatus characterized by aberrant tendinous chords, which insert at the clear zone of the leaflet instead of its free edge and connect to the endocardium instead of the papillary muscles. Resulting tethering of one or more tricuspid leaflets leads to their impaired mobility and tricuspid regurgitation. Association with other congenital cardiac anomalies has been reported." "" + "parachute tricuspid valve" "Parachute tricuspid valve is a rare congenital heart malformation defined as an insertion of the chordal apparatus into a single papillary muscle or a muscle group, making a pathognomonic 'pear' shape sign in the four-chamber echocardiographic view with the atrium forming the larger base of the pear and the leaflets the apex. Isolated parachute tricuspid valve may be asymptomatic or present with symptoms of tricuspid stenosis (diastolic inspiratory murmur, pulsation of jugular veins, hepatomegaly, edema, epigastric discomfort, right atrial enlargement, right ventricular hypertrophy, electrocardiography abnormalities). It may also be associated with other heart malformations and present with symptoms of the complex of malformations." "" + "congenital mitral stenosis" "Congenital mitral stenosis is a congenital heart malformation comprising a spectrum of morphologically heterogeneous developmental anomalies that result in functional and anatomic obstruction of inflow into the left ventricle. The structure of the mitral valve is affected at the level of the supravalvular ring, annulus, leaflets or subvalvar copmponents and include supra-valvular ring, leaflet fusion (intra-leaflet ring), mitral parachute deformity and papillary muscle abnormalities. It may be isolated or associated with other heart malformations. The clinical presentation depends on the degree of obstruction, the presence of regurgitation, the presence and severity of associated pulmonary hypertension, and the presence of associated heart malformations. It may present with symptoms and signs of low cardiac output and right ventricular failure such as pulmonary infections, failure to thrive, exertional dyspnoea, cough, cyanosis and congestive heart failure." "" + "congenital hypoplasia of the mitral valve annulus" "Hypoplasia of the mitral valve annulus is a rare, congenital, mitral valve malformation characterized by hypoplastic annulus which usually appears within a complete mitral valve hypoplasia, causing mitral valve stenosis. Association with other cardiac malformation is common, including coarctation of the aorta, aortic valve stenosis, Shone complex and hypoplastic left heart syndrome." "" + "congenital supravalvular mitral ring" "Congenital supravalvular mitral ring is a rare, congenital, mitral valve malformation characterized by an abnormal ridge of the connective tissue on the atrial side of the mitral valve, which can present clinically with signs and symptoms of left ventricle inflow obstruction (dyspnea, tachypnea, pulmonary hypertension, right ventricle hypertrophy, pulmonary edema). Association with other mitral valve anomalies, aortic stenosis, ventricular septal defect, patent ductus arteriosus, double-outlet right ventricle, pulmonary hypertension, and Shone complex has been reported." "" + "congenital unguarded mitral orifice" "Congenital unguarded mitral orifice is a rare, congenital, mitral valve malformation characterized by complete absence of mitral valve leaflets and tensor apparatus at the mitral annulus, which can present clinically with cyanosis, heart murmur, electrocardiogram abnormalities, mild cardiomegaly, or congestive heart failure. Association with heterotaxy, discordant atrioventricular connections, double-outlet right ventricle, pulmonary atresia or stenosis, thin left ventricular wall, and hypoplastic left heart syndrome has been reported." "" + "congenital accessory mitral valve tissue" "Accessory mitral valve tissue is a congenital non-syndromic heart malformation defined as an accessory mitral valve leaflet or various accessory mitral valve structures. It may be asymptomatic or present at various ages with symptoms of left ventricular outflow tract obstruction, low cardiac output due to subaortic obstruction or congestive heart failure. In some cases, it may be a source of cardioembolism. The malformation may be isolated or associated with other congenital heart malformations." "" + "congenital mitral valve agenesis" "Mitral valve agenesis is a rare congenital heart malformation defined as an agenesis or severe hypoplasia of both mitral valve leaflets (complete agenesis) or one of the leaflets (partial agenesis). Complete mitral valve agenesis presents in the neonatal period with symptoms of severe mitral regurgitation and is rapidly fatal unless surgically treated. It is frequently associated with other heart malformations. Partial mitral valve agenesis may present at various ages, usually with symptoms of mitral regurgitation." "" + "shone complex" "A congenital cardiovascular abnormality characterized by the presence of subvalvar left ventricular outflow tract obstruction, coarctation of the aorta, and mitral stenosis." "" + "straddling and/or overriding mitral valve" "" + "complete atrioventricular canal-left heart obstruction syndrome" "" + "complete atrioventricular canal-ventricle hypoplasia syndrome" "" + "complete atrioventricular canal-tetralogy of fallot syndrome" "" + "univentricular heart with single atrio-ventricular valve" "" + "aorto-right ventricular tunnel" "" + "aorto-left ventricular tunnel" "" + "congenital patent ductus arteriosus aneurysm" "Congenital patent ductus arteriosus aneurysm is a rare, congenital, arterial duct anomaly characterized by a saccular dilatation of the ductus arteriosus. It is often asymptomatic or presents shortly after birth with respiratory distress, stridor, cyanosis and/or weak cry. Complications, such as rupture, thromboembolism, infection, airway erosion and/or compression of the adjacent thoracic structures, can develop. Spontaneous resolution has been reported." "" + "encircling double aortic arch" "Encircling double aortic arch is a very rare congenital anomaly of the great arteries characterized by the presence of two aortic arches (right and left) which encircle and compress the trachea and esophagus, resulting in various respiratory and gastrointestinal symptoms (e.g. harsh breathing, stridor, dyspnea, cyanotic and choking episodes, chronic cough, recurrent respiratory tract infections, dysphagia and reflux). Esophageal atresia and tracheoesophageal fistula have also been reported. It usually occurs isolated, but, on occasion, may be associated with other congenital heart anomalies and chromosomal aberations." "" + "persistent fifth aortic arch" "" + "Kommerell diverticulum" "Kommerell diverticulum (KD) is a developmental anomaly of the aortic arch characterized by a diverticulum at the proximal descending aorta of left or right arch configuration that gives rise to an aberrant subclavian artery. KD is primarily asymptomatic but may become symptomatic secondary to dilatation of KD, atheroma and fibrotic changes in paratracheal or paraesophageal tissue, presenting with signs of tracheal compression (more common in children), esophageal compression (dysphagia lusoria; more common in patients with a right sided aortic arch), chest pain, or blood pressure difference in the upper limbs. KD may also predispose toward aortic dissection or rupture." "" + "Neuhauser anomaly" "Neuhauser anomaly is a rare cardiovascular morphological anomaly due to maldevelopment of embryonal aorta resulting in right aortic arch and left ligamentum arteriosum characterized by tracheoesophageal compression symptoms (stridor, dyspnea, dysphagia, apnoeic episodes, recurrent respiratory infections)." "" + "right aortic arch" "An anatomic abnormality that occurs during embryonic development, in which the aortic arch is right-sided." "" + "dysphagia lusoria" "" + "pulmonary artery hypoplasia" "" + "pulmonary branch stenosis" "Narrowing of the lumen of the right or left pulmonary artery branch." "" + "coronary artery intramyocardial course" "" + "aortopulmonary coronary arterial course" "Aortopulmonary coronary arterial course is a rare coronary artery congenital malformation characterized by anomalous origin of the coronary artery from the contralateral sinus of Valsalva with course between the aorta and the pulmonary artery. The anomaly is associated with increased risk of sudden cardiac death, especially during exercise." "" + "stenosis or atrophy of the coronary ostium" "" + "intramural coronary arterial course" "Intramural coronary arterial course is a rare coronary artery congenital malformation disorder characterized by an atypical course of a coronary artery (usually proximal left anterior descending artery) in which, for a variable length, the artery runs intramyocardally. Depending on the artery and length of segment involved, patients may be asymptomatic or may present variable manifestations ranging from atypical angina to sudden death." "" + "abnormal number of coronary ostia" "" + "malposition of the coronary ostium" "Malposition of the coronary ostium is a rare coronary artery congenital malformation characterized by displacement of one of the coronary arteries, originating closer to the aortic root or to the commissural area. The anomaly is considered to be asymptomatic, however, it may impose surgical difficulties during aortic root surgery." "" + "Laubry-Pezzi syndrome" "Laubry-Pezzi syndrome is a rare, non-syndromic, congenital heart malformation characterized by the prolapse of an aortic valve cusp into a subjacent ventricular septal defect due to Venturi effect, resulting in aortic regurgitation. Patients typically present with symptoms of progressive aortic valve insufficiency, such as shortness of breath, heart palpitations, chest pain and exercise intolerance." "" + "congenital Gerbode defect" "" + "cor triatriatum dexter" "" + "cor triatriatum sinister" "Cor triatriatum sinister (CTS) results when the left atrium is divided into two compartments by a membrane. The membrane can vary in size and shape and may have one or more openings. Severe cases of cor triatriatum sinister usually present in infancy and are often associated with other heart defects. In less severe cases, the diagnosis may not be made until later in life. The specific symptoms depend on the degree to which the membrane obstructs the flow of blood and whether or not there are additional heart defects. Symptoms may range from mild shortness of breath during exercise to signs of heart failure and lung congestion. Some people with CTS may not have symptoms. Treatment varies according to the severity of the symptoms. For symptomatic patients, surgery is generally consideredthe definitive course of therapy." "" + "juxtaposition of the atrial appendages" "Juxtaposition of the atrial appendages is a rare atrial appendage anomaly when both appendages are located on the left or the right side of the great arteries. It is asymptomatic and is usually diagnosed incidentally, but is frequently associated with other congenital heart diseases." "" + "ectasia of the right atrial appendage" "Ectasia of the right atrial appendage is a rare cardiac malformation characterized by the enlargement of the right auricle without any other associated cardiac lesions. It can be asymptomatic and diagnosed fortuitously, prenatally or during routine clinical examinations or it can present with heart murmur, palpitation, atrial arrhythmia, fatigue, dyspnea or respiratory distress." "" + "ectasia of the left appendage" "Ectasia of the left atrial appendage is a rare cardiac malformation characterized by the enlargement of the left auricle without any other associated cardiac lesions. It can be asymptomatic (discovered fortuitously during routine chest imaging as an unusual cardiac shadow) or present clinically with supraventricular tachyarrhythmia, paroxysmal tachycardia, embolic events, respiratory distress, chest pain, angina pectoris or heart failure." "" + "atrial septal defect, ostium secundum type" "" + "atrial septal defect, coronary sinus type" "" + "atrial septal defect, sinus venosus type" "" + "atrial septal defect, ostium primum type" "Atrioventricular septal defect with communication at the atrial level only." "" + "atrial septal aneurysm" "" + "patent foramen ovale" "A persistent opening in the atrial septum after birth. While a normal part of fetal circulation, the foramen ovale should close once the newborn begins breathing and the pressure in the left atrium exceeds that of the right atrium. While a PFO is generally asymptomatic, it can lead to the passage of clots from the venous circulation into the artierial circulation, resulting in paradoxical emboli, and possible strokes." "" + "persistent left superior vena cava connecting to the left-sided atrium" "Persistent left superior vena cava connecting to the left-sided atrium is a rare, congenital vascular malformation of the major vessels characterized by a persitent left superior vena cava which drains directly to the left atrium, without passing through the coronary sinus (that may be absent in some cases). Patients are usually asymptomatic and discovered incidentally, however hypoxia, cyanosis, murmurs, palpitations, cardiac structural anomalies (e.g. atrial septal defect, bicuspid aortic valve, cor triatrium) and risk of paradoxical embolization may be associated." "" + "right superior vena cava connecting to left-sided atrium" "Right superior vena cava connecting to the left-sided atrium is a rare, congenital vascular malformation of the major vessels characterized by the right SVC passing medially and dorsally to the aortic root and draining into the left atrium. Patients usually present a right-to-left systemic venous blood shunt which may manifest with arterial hypoxemia, cyanosis, exercise dyspnea, clubbing of the fingers, palpitations, murmurs and/or potentially fatal brain abscess. Association with other cardiac anomalies has been reported." "" + "left superior vena cava persisting to left-sided atrium" "" + "absence of innominate vein" "Absence of innominate vein is a rare congenital anomaly of the great veins characterized by absence of the left brachiocephalic vein (or innominate vein), resulting in an anomalous venous vasculature. Patients are usually asymptomatic and the anomaly is typically discovered intraoperatively. An association with persistence of left superior vena cava, permanent levoatrial cardinal vein or anomaly of the inferior vena cava has been reported in some cases." "" + "subaortic course of innominate vein" "Subaortic course of innominate vein is a rare congential anomaly of the great veins characterized by an anomalous course of the left brachiocephalic vein, passing from left to right below the aortic arch and entering the superior vena cava below the orifice of the azygos vein. Patients are frequently asymptomatic and diagnosed incidentally on imaging studies. Other cardiac malformations may be associated." "" + "agenesis of the superior vena cava" "Agenesis of the superior vena cava (SVC) is a rare congenital anomaly of the great veins characterized by unilateral or bilateral complete absence of the SVC. Unilateral agenesis is mainly asymptomatic (most of the time diagnosed incidentally) and patients usually have otherwise normal heart structure. Bilateral agenesis, however, is frequently associated with other congenital cardiac anomalies and/or conduction abnormalities (such as tetralogy of Fallot, atrial septal defect) and typically present symptoms of SVC syndrome." "" + "coronary sinus stenosis" "" + "coronary sinus atresia" "" + "right inferior vena cava connecting to left-sided atrium" "" + "persistent eustachian valve" "" + "azygos continuation of the inferior vena cava" "" + "congenital stenosis of the inferior vena cava" "" + "inferior vena cava interruption" "" + "congenital partial pulmonary venous return anomaly" "Partial pulmonary venous return (PAPVR) is a form of congenital pulmonary venous return where one or a few of the pulmonary veins drain into the right atrium or one of its tributaries instead of the left atrium. Some patients can be asymptomatic while others can manifest with non-specific signs such as frequent respiratory infections, fatigue and exertional dyspnea." "" + "congenital complete agenesis of pericardium" "Congenital complete agenesis of pericardium is a rare, mostly asymptomatic, congenital heart malformation characterized by the complete absence of the entire pericardium, or by the absence of either the right (uncommon) or left pericardium. It is occasionally associated with chest pain (common), dyspnea, dizziness, bradycardia and syncope, while exertional manifestations are rare. The disease is usually incidentally diagnosed during surgery or at autopsy." "" + "congenital partial agenesis of pericardium" "Congenital partial agenesis of pericardium is a rare, mostly asymptomatic, congenital heart malformation mainly characterized by the partial absence of the left pericardium. It is occasionally associated with chest pain or dyspnea and is usually incidentally diagnosed during surgery or at autopsy. Herniation and strangulation of a portion of the heart through the pericardial foramen may occur, resulting in myocardial acute ischemia and possible sudden death. Right side pericardium involvement is rare." "" + "pleuro-pericardial cyst" "Pleuro-pericardial cyst is a rare, mostly congenital, pericardium anomaly characterized by the presence of, usually asymptomatic, cysts which are typically located in the right costophrenic angle and are usually incidentally diagnosed. On occasion, it manifests with chest pain, dyspnea, tachycardia, persistent cough or cardiac arrhythmias. The condition is usually benign, but rare complications, such as cardiac tamponade, cardiogenic shock, mitral valve prolapse, hoarseness atrial fibrillation, right ventricular outflow, tract obstruction, spontaneous internal hemorrhage, pulmonary stenosis and sudden death, may occur." "" + "6-phosphogluconate dehydrogenase deficiency" "" + "hemolytic anemia due to erythrocyte adenosine deaminase overproduction" "Hemolytic anemia due to erythrocyte adenosine deaminase overproduction is a rare, genetic, hematologic disease characterized by mild, chronic hemolytic anemia (due to highly elevated adenosine deaminase activity in red blood cells resulting in their premature destruction), elevated reticulocyte count, splenomegaly and mild hyperbilirubinemia. Other cells and tissues are not affected." "" + "unstable hemoglobin disease" "" + "acquired von willebrand syndrome" "Acquired von Willebrand syndrome (AVWS) is a bleeding disorder marked by the same biological anomalies as those seen in hereditary von Willebrand disease (VWD) but which occurs in association with another underlying pathology, generally in elderly patients without any personal or family history of bleeding anomalies." "" + "epiblepharon" "" + "tarsal kink syndrome" "Tarsal kink syndrome is a rare congenital malformation of the tarsus that causes entropion characterized by blepharospasm and absence of an upper eyelid fold that may lead to corneal ulceration caused by the folded edge of the upper tarsus or the inturned eyelashes if not corrected by surgery." "" + "isolated congenital ectropion" "A congenital ectropion that is not part of a larger syndrome." "" + "euryblepharon" "Euryblepharon is a rare congenital eyelid anomaly of unknown etiology characterized by the bilateral horizontal enlargement of the palpebral fissure with vertically shortened eyelids, lateral canthus malpositioning and lateral ectropion. It may be isolated or associated with other ocular anomalies (e.g. strabismus or telecanthus) or systemic anomalies (e.g. blepharo-cheilo-odontic syndrome). In severe cases, it may result in lagophthalmos and exposure keratopathy, requiring surgical treatment." "" + "congenital eyelid retraction" "Congenital eyelid retraction is a very rare kinetic eyelid anomaly that can affect the upper or lower eyelid, presents at birth, that in some cases can result in corneal exposure, and that may be associated with accessory levator muscle slips." "" + "monosomy X" "" + "mosaic monosomy X" "" + "paternal uniparental disomy of chromosome 13" "Paternal uniparental disomy of chromosome 13 is an uniparental disomy of paternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier." "" + "48,XYYY syndrome" "48,XYYY syndrome is a rare Y chromosome number anomaly that affects only males and is characterized by mild-moderate developmental delay (especially speech), normal to mild intellectual disability, large, irregular teeth with poor enamel, tall stature and acne. Radioulnar stenosis and clinodactyly have also been associated. Boys generally present normal genitalia, while hypogonadism and infertility is frequently reported in adult males." "" + "49,XYYYY syndrome" "49,XYYYY is a rare Y chromosome number anomaly with a variable phenotype mainly characterized by moderate to severe intellectual disability, speech delay, hypotonia, and mild dysmorphic features, including facial asymmetry, hypertelorism, bilateral low set 'lop' ears, and micrognatia. Skeletal abnormalities (such as skull deformities, radioulnar synostosis, elbow flexion, clinodactyly, brachydactyly) and behavourial problems have also been associated with this condition. Genitalia are normal at birth, although hypogonadism and azoospermia has been reported in adults." "" + "obsolete pituitary adenoma" "" "true" + "Turner syndrome due to structural X chromosome anomalies" "" + "dappled diaphyseal dysplasia" "" + "cheirospondyloenchondromatosis" "Cheirospondyloenchondromatosis is an extremely rare type of enchondromatosis of very early onset (from neonatal period to infancy) characterized by symmetrical multiple enchondromas with metacarpal and phalangeal involvement resulting in short hands and feet, platyspondyly, mild to moderate short stature and intellectual disability." "" + "dermotrichic syndrome" "" + "mesial temporal lobe epilepsy with hippocampal sclerosis" "Mesial temporal lobe epilepsy with hippocampal sclerosis is a rare epilepsy syndrome defined by seizures originating in limbic areas of the mesial temporal lobe, particularly in the hippocampus, amygdala, and in the parahippocampal gyrus and its connections, and hippocampal sclerosis, usually unilateral or assymetric. It is frequently associated with an initial precipitating event, such as febrile seizures, hypoxia, intracranial infection or head trauma, most often occurring in the first five years of life, followed by a latent period without seizures. Typical seizures consist of a characteristic aura that is frequently a rising epigastric sensation associated with emotional disturbances, illusions, and autonomic symptoms (widened pupils, palpitations), progressive impairment of consciousness, oro-alimentary automatisms (lip smacking, chewing, licking, tooth grinding), behavioral arrest, head deviation, dystonic postures, hand and verbal automatisms. Seizures are followed by postictal dysfunction. Initially, seizures are easily controlled with antiepileptic drugs, later they frequently become refractory and associated with progressive behavioral changes and memory deficits." "" + "progeria-associated arthropathy" "" + "pituitary gigantism" "The condition of accelerated and excessive growth in children or adolescents who are exposed to excess human growth hormone before the closure of epiphyses. It is usually caused by somatotroph hyperplasia or a growth hormone-secreting pituitary adenoma. These patients are of abnormally tall stature, more than 3 standard deviations above normal mean height for age." "" + "myotonia fluctuans" "Myotonia fluctuans (MF) is a form of potassium-aggravated myotonia (PAM) which is cold insensitive, dramatically fluctuating and profoundly worsened by potassium ingestion." "" + "myotonia permanens" "Myotonia permanens is a very rare, persistent and more severe form of potassium-aggravated myotonia (PAM)." "" + "acetazolamide-responsive myotonia" "Acetazolamide-responsive myotonia is a form of potassium-aggravated myotonia (PAM) which shows dramatic improvement with the use of acetazolamide (ACZ)." "" + "obsolete rare familial disorder with hypertrophic cardiomyopathy" "True" "true" + "King-Denborough syndrome" "King-Denborough syndrome is a rare genetic non-dystrophic myopathy characterized by the triad of congenital myopathy, dysmorphic features and susceptibility to malignant hyperthermia. Patients present with a wide phenotypic range, including delayed motor development, muscle weakness and fatigability, ptosis and facies myopathica (with or without creatine kinase elevations), skeletal abnormalities (e.g. short stature, scoliosis, kyphosis, lumbar lordosis and pectus carinatum/excavatum), mild dysmorphic facial features (e.g. hypertelorism, down-slanting palpebral fissures, epicanthic folds, low set ears, micrognathia), webbing of the neck, cryptorchidism, and a susceptibility to malignant hyperthermia and/or rhabdomyolysis due to intensive physical strain, viral infection or statin use." "" + "" "true" + "Pontiac fever" "Pontiac fever (PF) is a mild form of legionellosis manifesting with flu-like symptoms such as nausea, myalgia, fever, cough and headache but without pneumonia." "" + "mosaic trisomy 9" "Mosaic trisomy 9 is a chromosomal abnormality that can affect may parts of the body. In people affected by this condition, some of the body's cells have three copies of chromosome 9 (trisomy), while other cells have the usual two copies of this chromosome. The signs and symptoms vary but may include mild to severe intellectual disability, developmental delay, growth problems (both before and after birth), congenital heart defects, and/or abnormalities of the craniofacial (skull and face) region. Most cases are not inherited; it often occurs sporadically as a random event during the formation of the reproductive cells (egg and sperm) or as the fertilized egg divides. Treatment is based on the signs and symptoms present in each person." "" + "hemimegalencephaly" "Hemimegalencephaly is a rare cerebral malformation characterized by overgrowth of all or part of a cerebral hemisphere, often with ipsilateral severe cortical dysplasia or dysgenesis, white matter hypertrophy and dilated lateral ventricle, presenting in early infancy with progressive hemiparesis, severe psychomotor retardation and intractable seizures. Hemimegalencephaly may be an isolated finding or associated with other syndromes such as angioosteohypertrophic syndrome, epidermal nevus syndrome and Ito hypomelanosis. Management includes seizure control by antiepileptic medications and early hemispherectomy." "" + "Haddad syndrome" "Haddad syndrome is a rare congenital disorder in which congenital central hypoventilation syndrome (CCHS), or Ondine syndrome, occurs concurrently with Hirschsprung disease." "" + "oculootodental syndrome" "Oculootodental syndrome is a contiguous gene syndrome comprising otodental syndrome (characterized by globodontia and sensorineural high-frequency hearing deficit) associated with eye abnormalities including, typically, iris and chorioretinal coloboma, as well as, on occasion, microcornea, microphtalmos, lenticular opacity, lens coloboma and iris pigment epithelial atrophy." "" + "peho-like syndrome" "PEHO-like syndrome is a rare, genetic neurological disease characterized by progressive encephalopathy, early-onset seizures with a hypsarrhythmic pattern, facial and limb edema, severe hypotonia, early arrest of psychomotor development and craniofacial dysmorphism (evolving microcephaly, narrow forehead, short nose, prominent auricles, open mouth, micrognathia), in the absence of neuro-ophthalmic or neuroradiologic findings. Poor visual responsiveness, growth failure and tapering fingers are also associated." "" + "Turcot syndrome with polyposis" "Turcot syndrome with polyposis or Turcot syndrome type 2 is a form of familial adematous polyposis, characterized by the concurrence of thousands of colonic adenomatous polyposis or colorectal cancer (CRC) and a primary central nervous system tumor (principally medulloblastoma). It is also associated with pigmented ocular fundus lesions." "" + "obsolete Lassa fever" "" "true" + "Nipah virus disease" "Nipah virus disease, caused by the Nipah virus, is a recently discovered zoonotic disease characterized by fever, constitutional symptoms and encephalitis, sometimes accompanied by respiratory illness." "" + "Marburg hemorrhagic fever" "Marburg hemorrhagic fever (MHF), caused by Marburg virus, is a severe viral hemorrhagic disease characterized by initial fever and malaise followed by gastrointestinal symptoms, bleeding, shock, and multi-organ system failure." "" + "Crimean-Congo hemorrhagic fever" "Crimean-Congo hemorrhagic fever (CCHF) is a tick-borne zoonotic disease caused by CCHF virus and characterized by initial fever, headache, and malaise followed by gastrointestinal symptoms and, in severe cases, bleeding, shock, and multi-organ system failure." "" + "yellow fever" "Yellow fever (YF), caused by YF virus, is a zoonotic disease characterized by fever and constitutional symptoms, with the potential to progress to severe and fatal viral hemorrhagic fever with shock and multi-organ system failure." "" + "resistance to thyrotropin-releasing hormone syndrome" "Resistance to thyrotropin-releasing hormone (TRH) syndrome is a type of central congenital hypothyroidism characterized by low levels of thyroid hormones due to insufficient release of thyroid-stimulating hormone (TSH) caused by pituitary resistance to TRH. It may or may not be observed from birth." "" + "ravine syndrome" "Ravine syndrome is an extremely rare genetic neurological disorder, reported in a small number of patients in a specific community on Reunion Island (Ravine region), characterized by infantile anorexia with irrepressible and repeated vomiting, acute brainstem dysfunction, severe failure to thrive, and progressive encephalopathy with MRI showing vanishing of medulla oblongata and cerebellar white matter and severe atrophy of pons, along with supra-tentorial periventricular white-matter hyperintensities and basal ganglia anomalies." "" + "Cree leukoencephalopathy" "" + "secondary syringomyelia" "Secondary syringomyelia is a rare medullar disease defined as a development of a fluid-filled cavity or syrinx within the spinal cord due to blockage of CSF circulation (e.g., due to basal archnoiditis, meningeal carcinomatosis, various mass lesions), spinal cord injury (e.g., due to trauma, radiation necrosis, hemorrhage, spinal abscess), spinal dysraphism or intramedullary tumours. It presents with neuropathic pain, numbness, muscular weakness, changes in tone or spasticity or autonomic changes (hyperhidrosis, heart rate or blood pressure instability). Selective loss of pain and temperature with relative preservation of dorsal column function (touch and pressure) are classic findings." "" + "idiopathic syringomyelia" "Idiopathic syringomyelia is a rare, non-syndromic central nervous system malformation characterized by a longitudinally oriented fluid-filled cavity inside the spinal cord parenchyma or the central canal, without any readily identifiably cause. It is usually associated with pain, sensory and/or musculoskeletal disturbances, but it can also be an incidental and asymptomatic finding." "" + "precursor T-cell acute lymphoblastic leukemia" "" + "spermatocytic seminoma" "A rare variant of seminoma characterized by the presence of three cell types: round cells with eosinophilic cytoplasm, small cells with dark nucleus and a small amount of cytoplasm, and mono-or multinucleated giant cells. The neoplastic cells are not cohesive. There is an edematous stroma present; lymphocytic infiltrates are rarely seen. Most patients are older males." "" + "obsolete thymoma" "" "true" + "obsolete thymic carcinoma" "" "true" + "eosinophilic granuloma" "A clinical variant of Langerhans cell histiocytosis characterized by unifocal involvement of a bone (most often), skin, or lung. Patients are usually older children or adults usually presenting with a lytic bone lesion. The etiology is unknown. Morphologically, eosinophilic granuloma is characterized by the presence of Langerhans cells in a characteristic milieu which includes histiocytes, eosinophils, neutrophils, and small, mature lymphocytes." "" + "Hashimoto-Pritzker syndrome" "Hashimoto-Pritzker histiocytosis (HPH) is a variant of Langerhans cell histiocytosis characterized by multiple disseminated skin lesions (firm, red-brown, painless papulo-nodules)." "" + "hand-Schuller-Christian disease" "A multifocal, unisystem form of Langerhans-cell histiocytosis. There is involvement of multiple sites in one organ system, most frequently the bone. Patients are usually young children presenting with multiple destructive bone lesions." "" + "adult pulmonary Langerhans cell histiocytosis" "Adult pulmonary Langerhans Cell Histiocytosis (PLCH) is a rare histiocytic lung disease characterized by the accumulation of Langerhans and other inflammatory cells in the small airways, resulting in the formation of nodular inflammatory lesions." "" + "Ehlers-Danlos syndrome type 7A" "" + "Ehlers-Danlos syndrome type 7B" "" + "familial parathyroid adenoma" "An instance of parathyroid gland adenoma that is caused by an inherited modification of the individual's genome." "" + "primary parathyroid hyperplasia" "" + "acute megakaryoblastic leukemia in down syndrome" "" + "ectopic Cushing syndrome" "Cushing syndrome due to ectopic (adrenocorticotropic hormone) ACTH secretion (EAS) is a form of ACTH-dependent Cushing syndrome caused by excess secretion of ACTH by a benign or, more often, malignant non-pituitary tumor." "" + "mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency" "Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete interferon gamma receptor 1 (IFN-gammaR1) deficiency is a genetic variant of MSMD characterized by a complete deficiency in IFN-gammaR1, leading to impaired IFN-gamma immunity and, consequently, to severe and often fatal infections with bacillus Calmette-GuC)rin (BCG) and other environmental mycobacteria (EM)." "" + "spirillary rat-bite fever" "Spirillary rat-bite fever (RBF), also known as Sodoku (Japanese for so: rat and doku: poison), is caused by the gram-negative bacillus Spirillum minus and is transmitted to humans through the bites and scratches of rats. The disease is mostly present in Asia." "" + "streptobacillary rat-bite fever" "Streptobacillary rat-bite fever (RBF) is a systemic zoonosis caused by the aerobic gram-negative bacterium Streptobacillus moniliformis and is transmitted to humans through the bites and scratches of infected rats." "" + "obsolete farmer's lung" "" "true" + "house allergic alveolitis" "House allergic alveolitis is a hypersensitivity pneumonitis resulting from the inhalation of an antigen to which an individual has been previously sensitized in his/her domestic environment. House allergic alveolitis encompasses summer hypersensitivity pneumonitis, humidifier-induced lung diseases, hot tub lung and legionellosis." "" + "obsolete pigeon-breeder lung disease" "" "true" + "occupational lung disease" "" + "malignant dysgerminomatous germ cell tumor of ovary" "Malignant dysgerminomatous germ cell tumor of ovary is the most common form of malignant germ cell tumor of ovary, arising from germ cells in the ovary, usually presenting during adolescence with pelvic mass, fever, vaginal bleeding, and acute abdomen and is characterized by bilaterality (around 10% of cases), association with dysgenetic gonads (5 to 10% of cases), elevated serum lactate dehydrogenase (LDH) and human chorionic gonadotrophin (hCG) (in the presence of syncitiotrophoblasts). Malignant dysgerminomatous germ cell tumor of ovary responds well to chemotherapy, potentially sparing patients from infertility and early mortality." "" + "ovarian gynandroblastoma" "A rare neoplasm arising from the ovary. Although it may occur at any age, it is more often seen in young females. Morphologically, it is characterized by a mixture of two cellular populations: well differentiated Sertoli cells and granulosa cells, with the latter constituting at least ten percent of the neoplasm. The vast majority of cases are stage I lesions at presentation and produce either estrogenic or androgenic manifestations. Although it may present as a massive ovarian tumor, it usually follows a benign clinical course. Very rare case reports of testicular lesions morphologically resembling gynandroblastomas are in fact variants of juvenile granulose cell tumor, or Sertoli cell tumor, or a combination of both." "" + "maligant granulosa cell tumor of ovary" "An aggressive granulosa cell tumor that arises from the ovary and metastasizes to other anatomic sites." "" + "ovarian granulosa cell tumor" "A granulosa-stromal cell tumor that arises from the ovary. It is characterized by the presence of granulosa cells that comprise at least ten percent of the cellular population. The granulosa cells are often found in a background that contains theca and fibrous cells. There are two major subtypes recognized, adult and juvenile granulosa cell tumor. Clinically, patients may present with an abdominal mass. Symptoms depend on the patient's age. The most important indicator of prognosis is tumor stage. Age over forty years at the time of the initial diagnosis, large tumor size, bilaterality, cellular atypia, and increased mitotic activity are factors indicating a potentially aggressive clinical course and relative poor prognosis." "" + "malignant Sertoli-Leydig cell tumor of ovary" "Malignant Sertoli-Leydig cell tumor of ovary is a rare malignant sex cord stromal tumor of ovary occuring typically in young women and characterized by manifestations of androgen excess (hirsutism, hair loss, amenorrhea, or oligomenorrhea), when functional." "" + "ovarian Sertoli-Leydig cell tumor" "A benign or malignant sex cord-stromal tumor arising from the ovary. It is characterized by the presence of neoplastic Leydig cells. Signs and symptoms include hirsutism, menorrhagia and metrorrhagia. It may be associated with trisomy 8." "" + "theca steroid-producing cell malignant tumor of ovary, not further specified" "Malignant steroid cell tumor of the ovary, not otherwise specified is a rare malignant sex cord stromal tumor of ovary of unknown histological lineage, occurring in adult women, characterized, in most cases, by manifestations of androgen excess (hirsutism, hair loss, amenorrhea, or oligomenorrhea) and, occasionally, Cushing syndrome." "" + "streptococcal toxic-shock syndrome" "Streptococcal toxic-shock syndrome (streptococcal TSS) is an acute disease mediated by the production of superantigenic toxins characterized by the sudden onset of fever and other febrile symptoms, pain, multisystem organ involvement and potentially leading to coma, shock and death due to a Streptococcus pyogenes infection." "" + "staphylococcal toxic-shock syndrome" "Staphylococcal toxic shock syndrome (staphylococcal TSS) is an acute disease mediated by the production of superantigenic toxins, characterized by high fever, skin rash followed by skin peeling, hypotension, vomiting, diarrhea and potentially leading to multisystem organ failure and caused by a Staphylococcus aureus bacterial infection." "" + "acute graft versus host disease" "A syndrome of immunologically mediated tissue damage that may occur following an allogeneic transplant, usually affecting the skin, liver, and GI tract. The onset is usually within one hundred days of transplantation or immunologic manipulation." "" + "chronic graft versus host disease" "Chronic graft versus host disease (GVHD) is a complication that can occur after a stem cell or bone marrow transplant in which the newly transplanted donor cells attack the transplant recipient's body. Symptoms may include skin rash, mouth sores, dry eyes, liver inflammation, development of scar tissue in the skin and joints, and damage to the lungs. The exact cause of chronic GVHD is unknown.It likely results from a complex immune-mediated interaction between the donor and recipient cells.Chronic GVHD is treated with prednisone or other similar anti-inflammatory or immunosuppressive medications." "" + "ocular pemphigoid" "Ocular pemphigoid is a rare inflammatory eye disease characterized by sub-epithelial blistering manifesting with bilateral, asymmetrical, chronic or recurrent conjunctivitis and aberrant tissue regeneration leading to progressive conjunctival fibrosis, secondary corneal vascularization and, in some cases, blindness. Patients typically present with conjunctival redness, increased lacrimation, burning and/or foreign body sensation, edema, limbitis and/or varying degrees of ocular pain. Ankyloblepharon may be observed in end stages of the disease." "" + "invasive hydatidiform mole" "A complete hydatidiform mole or very rarely a partial mole that invades the myometrium." "" + "obsolete hydatidiform mole" "" "true" + "placental site trophoblastic tumor" "Placental site trophoblastic tumor is a rare gestational trophoblastic tumor (GTT) which develops from the placental implantation site and always occurs following pregnancy, voluntary termination of pregnancy (VTP) or miscarriage." "" + "secondary pulmonary hemosiderosis" "Secondary pulmonary hemosiderosis is a respiratory disease due to the deposition of hemosiderin-laden macrophages in lungs as a result of repeated alveolar hemorrhage secondary to another disease, especially dysimmunitary disorders (i.e. Heiner syndrome, autoimmune diseases), thrombotic disorders and cardiovascular disorders such as mitral stenosis. It manifests as a triad of hemoptysis, anemia and diffuse parenchymal infiltrates on chest radiography" "" + "Heiner syndrome" "Heiner syndrome, also called cow's milk hypersensitivity, is a food induced pulmonary hypersensiting syndrome that affects primarily infants and that is characterized by pulmonary hemosiderosis, digestive bleeding, anemia and poor growing, improving with elimination of cow's milk from the diet." "" + "pleuropulmonary blastoma type 1" "A pleuropulmonary blastoma composed of malignant small cells. Sarcomatous features are absent." "" + "pleuropulmonary blastoma type 2" "A pleuropulmonary blastoma composed of malignant small cells and characterized by the presence of a sarcomatous component. It usually follows an aggressive clinical course." "" + "pleuropulmonary blastoma type 3" "A pleuropulmonary blastoma characterized by a solid pattern and sarcomatous features. It usually follows an aggressive clinical course." "" + "autosomal dominant Charcot-Marie-Tooth disease type 2K" "Autosomal dominant Charcot-Marie-Tooth disease, type 2K (CMT2K) is an axonal CMT peripheral sensorimotor polyneuropathy." "" + "O'Sullivan-McLeod syndrome" "O'Sullivan McLeod syndrome is a benign lower motor neuron disorder and a rare variant of monomelic amyotrophy (MA), characterized by an initial unilateral weakness in the intrinsic hand muscles that eventually spreads to the opposite limb (with an asymmetrical distribution) and that has a very slow progression of muscular atrophy over a 20 year period." "" + "pleomorphic liposarcoma" "Pleomorphic liposarcoma (PLS), the rarest subtype of liposarcoma (LS), is an aggressive, fast growing tumor located usually in the deep soft tissues of the lower and upper extremities. It is characterized by a variable number of pleomorphic lipoblasts and, in contrast to dedifferentiated liposarcoma, it lacks any association with well-differentiated liposarcoma." "" + "Dedifferentiated liposarcoma" "Dedifferentiated liposarcoma (DDLS) is a high-grade subtype of liposarcoma (LS) that progresses from well-differentiated liposarcoma (WDLS), and most often occurs in the retroperitoneum. It is defined as a region of nonlipogenic sarcoma associated with WDLS." "" + "obsolete well-differentiated liposarcoma" "" "true" + "obsolete adenocarcinoma of esophagus" "" "true" + "obsolete Klatskin tumor" "" "true" + "apnea of prematurity" "Apnea of prematurity is a developmental disorder affecting premature infants, likely secondary to an immaturity of respiratory control resulting in idiopathic pauses in breathing often associated with reduced heart rate and arterial blood oxygen levels. It may be exacerbated by concurrent neonatal diseases." "" + "intermediate DEND syndrome" "Intermediate DEND syndrome (iDEND) is a rare mild form of DEND syndrome, a neonatal diabetes mellitus, developmental delay and epilepsy condition. The intermediate form is characterized clinically by mild motor, speech or cognitive delay and an absence of epilepsy." "" + "obsolete Brill-Zinsser disease" "" "true" + "relapsing epidemic typhus" "" + "complex regional pain syndrome type 2" "Complex regional pain syndrome type 2 (CRPS2), or causalgia is a form of complex regional pain syndrome that develops after damage to a peripheral nerve and is characterized by spontaneous pain, allodynia and hyperalgesia, not necessarily limited to the territory of the injured nerve, as well as at some point, edema, changes in skin blood flow or sudomotor dysfunction in the pain area." "" + "obsolete vitamin D deficiency" "Abnormally low level of 25-hydroxyvitamin D in the blood." "" "true" + "benign uterine ligament neoplasm" "A non-metastasizing neoplasm that arises from the uterine ligament." "" + "chromosome 17 abnormality" "An irregularity in the structure of chromosome 17." "" + "anemia due to enzyme disorder" "Any form of anemia that results from the absence of, or the defective action of, any enzyme." "" + "disease of retroperitoneum" "A disease or disorder that involves the retroperitoneal space." "" + "angiokeratoma of scrotum" "An angiokeratoma that is located on the scrotum." "" + "acute pharyngitis" "An acute and painful inflammatory process that affects the pharynx. It is usually caused by viruses and less often bacteria. Signs and symptoms include discomfort on swallowing, low-grade fever, headache, and earache." "" + "Simpson-Golabi-Behmel syndrome type 1" "Any Simpson-Golabi-Behmel syndrome in which the cause of the disease is a mutation in the GPC3 gene." "" + "X-linked chondrodysplasia punctata 2" "X-linked dominant chondrodysplasia punctata (CDPX2) is a rare genodermatosis with great phenotypic variation and characterized most commonly by ichthyosis, chondrodysplasia punctata (CDP), asymmetric shortening of the limbs, cataracts and short stature." "" + "Liddle syndrome 1" "Any Liddle syndrome in which the cause of the disease is a mutation in the SCNN1B gene." "" + "obsolete blood group--ahonen" "" "true" + "obsolete blood group, colton system" "" "true" + "obsolete blood group, diego system" "" "true" + "obsolete blood group--kell system" "" "true" + "obsolete blood group, kidd system" "" "true" + "obsolete blood group--lke" "" "true" + "obsolete blood group--lutheran system" "" "true" + "obsolete blood group system, landsteiner-wiener" "" "true" + "obsolete blood group, mn" "" "true" + "obsolete blood group--ok" "" "true" + "obsolete blood group--private systems" "" "true" + "obsolete blood group, langereis system" "" "true" + "obsolete blood group, ss" "" "true" + "obsolete blood group--scianna system" "" "true" + "obsolete blood group--stoltzfus system" "" "true" + "obsolete blood group--ul system" "" "true" + "obsolete blood group--waldner type" "" "true" + "obsolete blood group--wright antigen" "" "true" + "obsolete yt blood group antigen" "" "true" + "epileptic encephalopathy, infantile or early childhood" "" + "microcephaly, growth restriction, and increased sister chromatid exchange 2" "" + "epileptic encephalopathy, infantile or early childhood, 1" "" + "epileptic encephalopathy, infantile or early childhood, 2" "" + "epileptic encephalopathy, infantile or early childhood, 3" "" + "grade III meningioma" "A malignant meningioma with aggressive clinical course. It recurs in approximately 50-78% of the cases. This category includes the anaplastic (malignant) meningioma, papillary meningioma, and rhabdoid meningioma." "" + "anaplastic meningioma" "A WHO grade III meningioma characterized by the presence of malignant morphologic features, including malignant cytology and a very high mitotic index (20 or more mitoses per ten high power fields)." "" + "superficial spreading melanoma" "A type of melanoma that typically occurs in light-skinned individuals ranging in age from young adults to the elderly. Risk factors include extensive sun exposure during childhood, a family history of melanoma, and the presence of dysplastic nevi." "" + "aneuploidy" "A chromosomal abnormality in which there is an addition or loss of chromosomes within a set." "" + "autism susceptibility 1" "" + "ocular adnexal lymphoma" "A non-Hodgkin lymphoma arising from the conjunctiva, lacrimal gland, lacrimal drainage apparatus, eyelids, or other orbital tissues around the eye. The vast majority of cases are extranodal marginal zone lymphomas of mucosa-associated lymphoid tissue, however, other histologic types of lymphomas can originate from ocular adnexal tissues, including rare cases of NK/T-cell lymphomas of nasal type." "" + "microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome" "" + "warty carcinoma of the penis" "A squamous cell carcinoma that arises from the penis. It is characterized by a papillary growth pattern, hyperkeratosis and parakeratosis. Koilocytotic atypia is present. Human papillomavirus types 16 and 6 have been identified in some cases." "" + "germ cell tumor of the vulva" "" + "mixed germ cell tumor of vulva" "" + "immature teratoma of vulva" "" + "juvenile ankylosing spondylitis" "" + "human papillomavirus-related squamous cell carcinoma" "" + "infiltrating ureter transitional cell carcinoma" "" + "upper tract urothelial carcinoma" "" + "osteoblastic osteosarcoma" "A conventional osteosarcoma characterized by the predominance of osteoid matrix." "" + "undifferentiated round cell sarcoma" "An undifferentiated soft tissue sarcoma characterized by the presence of uniform round or ovoid malignant cells with a high nuclear to cytoplasmic ratio." "" + "borderline ovarian serous tumor" "A low grade serous epithelial neoplasm arising from the ovary. It is characterized by an atypical proliferation of serous-type epithelial cells without evidence of stromal invasion. It is often asymptomatic but rarely it may present with abdominal pain or abdominal enlargement due to rupture or torsion." "" + "ovarian serous tumor" "A benign, borderline, or malignant epithelial tumor of the ovary characterized by the presence of neoplastic epithelial cells that, in well differentiated tumors, resemble the epithelial cells of the fallopian tube and, in poorly differentiated tumors, show anaplastic features. Approximately thirty to fifty percent of the tumors are bilateral. Grossly, the better differentiated tumors consist of cystic masses, usually unilocular, containing a clear but sometimes viscous fluid. Papillary formations are often present. The more malignant tumors tend to be solid and invasive, with areas of necrosis and hemorrhage." "" + "tumor grade 3 or 4, general grading system" "Used to describe tumor samples that exhibit poorly differentiated or undifferentiated cells. They are generally expected to be fast growing and aggressive." "" + "Löfgren syndrome" "A sarcoidosis characterized by the triad of erythema nodosum, bilateral hilar lymphadenopathy on chest radiograph, and joint pain." "" + "Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis" "" + "obsolete spastic paraplegia 5B" "" "true" + "antithrombin deficiency type 2" "" + "obsolete susceptibility to ischemic stroke" "" "true" + "sudden hearing loss disorder" "" + "conductive hearing loss disorder" "Hearing loss caused by impaired transmission of signals from the external auditory canal or middle ear to the cochlea." "" + "acute bronchiolitis" "Acute inflammation of the bronchioles usually caused by the respiratory syncytial virus." "" + "Ehlers-Danlos syndrome, musculocontractural type 1" "" + "Ehlers-Danlos syndrome, spondylodysplastic type, 1" "" + "Ehlers-Danlos syndrome, periodontal type 1" "" + "acute tonsillitis" "An acute inflammation of the tonsils caused by viruses or bacteria. Signs and symptoms include fever, enlargement of the tonsils, difficulty swallowing, and enlargement of the regional lymph nodes." "" + "spinal cord ischemia" "Reduced blood flow to the spinal cord which is supplied by the anterior spinal artery and the paired posterior spinal arteries. This condition may be associated with arteriosclerosis, trauma, emboli, diseases of the aorta, and other disorders. Prolonged ischemia may lead to infarction of spinal cord tissue." "" + "AIDS dementia complex" "A neurologic condition associated with the ACQUIRED IMMUNODEFICIENCY SYNDROME and characterized by impaired concentration and memory, slowness of hand movements, ATAXIA, incontinence, apathy, and gait difficulties associated with HIV-1 viral infection of the central nervous system. Pathologic examination of the brain reveals white matter rarefaction, perivascular infiltrates of lymphocytes, foamy macrophages, and multinucleated giant cells. (From Adams et al., Principles of Neurology, 6th ed, pp760-1; N Engl J Med, 1995 Apr 6;332(14):934-40)" "" + "" "true" + "spondylocostal dysostosis 1, autosomal recessive" "" + "salivary gland epithelial myoepithelial carcinoma" "A carcinoma that arises from the salivary glands, most often the parotid gland. It presents as a slow growing and painless mass. It is characterized by the presence of duct-like structures lined by two layers of cells, an inner layer composed of epithelial-type cells and an outer layer composed of clear, myoepithelial-type cells." "" + "hypotonic cerebral palsy" "A type of cerebral palsy characterized by decreased muscle tone." "" + "lung epithelial-myoepithelial carcinoma" "A lung carcinoma arising within the bronchi or bronchial tubes. It is characterized by the presence of myoepithelial cells, spindle cells, clear cells, and duct-forming epithelial cells. Surgical resection may be curative." "" + "obsolete microcephaly, short stature, and impaired glucose metabolism" "" "true" + "brachydactyly type A1A" "" + "neural tube defects, susceptibility to" "" + "Heberden's node" "Osteophytes that most commonly develop on the distal interphalangeal joints, often in the setting of osteoarthritis." "" + "central hearing loss" "Hearing loss resulting from disorders of the central nervous system auditory pathways." "" + "brachial amyotrophic diplegia" "A neurodegenerative condition characterized by asymmetric weakness in the upper extremities resulting from segmental lower motor neuron dysfunction." "" + "Majocchi granuloma" "An inflammatory and granulomatous, dermatophytic infection that is classified into two forms, depending on the affected individual’s health situation and clinical picture. The first form is mainly observed in healthy individuals and is defined as a perifollicular, papular form induced by penetrating trauma that is mostly observed in the lower extremities. The second form is granulomatous, related to immunosuppression, seen in a nodular form, and usually appears on the upper extremities." "" + "amnionitis" "Inflammation of the amnion." "" + "selective peripheral resistance to thyroid hormone" "A thyroid hormone resistance syndrome characterized by resistance in peripheral tissues but not in the pituitary." "" + "46,XY sex reversal 1" "" + "pulmonary venoocclusive disease 1" "" + "mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy" "" + "Multiple system atrophy 1, susceptibility to" "" + "familial thyroid dyshormonogenesis 1" "" + "autosomal dominant woolly hair" "" + "congenital short bowel syndrome 1" "" + "obsolete susceptibility to Hirschsprung disease" "" "true" + "nephrolithiasis susceptibility caused by SLC26A1" "" + "vitamin D-dependent rickets, type 1A" "" + "cerebral cavernous malformation 1" "" + "anemia due to chronic disorder" "Anemia due to a disorder that is persistent or long-standing in nature." "" + "tubulointerstitial kidney disease, autosomal dominant, 2" "An inherited disorder that causes a gradual loss of kidney function, caused by a mutation in the MUC1 gene that leads to production of an abnormal mucin 1 protein, which deposits in the kidney and leads to slow loss of kidney function." "" + "hypouricemia, renal 1" "" + "autosomal recessive agammaglobulinemia 1" "" + "carpal tunnel syndrome 1" "" + "arbovirus infection" "A viral infection that is transmitted by an arthropod." "" + "proximal symphalangism 1A" "" + "erythrocyte AMP deaminase deficiency" "" + "ACTH-independent macronodular adrenal hyperplasia 1" "" + "uncombable hair syndrome 1" "" + "optic atrophy 10 with or without ataxia, intellectual disability, and seizures" "" + "multiple benign circumferential skin creases on limbs 1" "" + "autosomal recessive infantile hypercalcemia 1" "" + "ectodermal dysplasia and immunodeficiency 1" "" + "pyridoxine-dependent epilepsy caused by ALDH7A1 mutant" "" + "obsolete cataract, microcephaly, failure to thrive, kyphoscoliosis syndrome" "" "true" + "Mobitz type I atrioventricular block" "A disorder characterized by an electrocardiographic finding of intermittent failure of atrial electrical impulse conduction to the ventricles, characterized by a progressively lengthening PR interval prior to the block of an atrial impulse. (CDISC)" "" + "autosomal dominant cardiac arrhythmia (Kuhn)" "" + "contractures, pterygia, and variable skeletal fusions syndrome 1B" "" + "sitosterolemia 1" "" + "sitosterolemia 2" "" + "polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1" "" + "polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2" "" + "orthostatic hypotension 2" "" + "myoclonic epilepsy, juvenile, susceptibility to, 1" "" + "obsolete heart block" "" "true" + "migraine, familial hemiplegic, 1" "" + "" "true" + "epilepsy, childhood absence, susceptibility to, 1" "" + "skin squamous cell carcinoma in situ" "Intraepidermal squamous cell carcinoma, confined to the epidermis. There is no evidence of invasion." "" + "Bowen disease of the skin" "A form of squamous cell carcinoma in situ. It is a distinct clinicopathological entity and arises from the skin or the mucocutaneous junction. It affects predominantly white males in their 6-8th decades of life. Exposed and non-exposed skin sites are equally affected. UV damage and ingestion of inorganic arsenic may play a role in the development of the disease. On the skin surface, it presents as a single or multiple erythematous, scaly, keratotic patches or plaques. The clinical entity of erythroplasia of Queyrat is regarded as Bowen disease of the penis and it presents as an asymptomatic, red, circumscribed plaque. Morphologically, Bowen disease is characterized by the presence of hyperkeratosis, parakeratosis, dyskeratosis, and acanthosis. The keratotic squamous cells are atypical and display hyperchromatism and abnormal mitotic figures. The dermoepidermal basement membrane is intact. Complete surgical removal of the lesion may be curative." "" + "diencephalic-mesencephalic junction dysplasia syndrome 2" "" + "Menke-Hennekam syndrome 1" "" + "Menke-Hennekam syndrome" "" + "Brown-Pearce carcinoma" "" + "neuropathy, congenital hypomyelinating, 2" "" + "neuropathy, congenital hypomyelinating, 3" "" + "cauda equina syndrome with neurogenic bladder" "A rare neurologic disorder caused by impingement of the nerve roots of the cauda equina secondary to disc herniation, spinal stenosis, vertebral fracture, neoplasm or infection. Clinical signs may include bladder or bowel dysfunction, paresthesia and weakness of the lower extremities. The development of neurogenic bladder implies that surgical decompression was either ineffective, delayed or not attempted." "" + "Menke-Hennekam syndrome 2" "" + "spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3" "" + "epilepsy, juvenile absence, susceptibility to, 1" "" + "cerebrospinal fluid rhinorrhea" "Discharge of cerebrospinal fluid through the nose. Common etiologies include trauma, neoplasms, and prior surgery, although the condition may occur spontaneously. (Otolaryngol Head Neck Surg 1997 Apr;116(4):442-9)" "" + "cerebrospinal fluid leak" "Discharge of cerebrospinal fluid through a hole through the skull bone most commonly draining from the nose (CEREBROSPINAL FLUID RHINORRHEA) or the ear (CEREBROSPINAL FLUID OTORRHEA)." "" + "congenital disorder of glycosylation with defective fucosylation 1" "" + "congenital disorder of glycosylation with defective fucosylation" "" + "chlamydiaceae infections" "Infections with bacteria of the family CHLAMYDIACEAE." "" + "congenital disorder of glycosylation with defective fucosylation 2" "" + "cone-rod dystrophy and hearing loss 1" "" + "cartilage development disorder" "Any dysfunction in the growth of cartilage." "" + "cone-rod dystrophy and hearing loss 2" "" + "encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1" "" + "chronic gingivitis" "Chronic painless inflammation of the gums. It is characterized by erythema and edema of the gums and bleeding while brushing the teeth." "" + "capillary malformation-arteriovenous malformation 1" "" + "obsolete short sleep, familial natural, 1" "" "true" + "capillary malformation-arteriovenous malformation 2" "" + "obsolete short sleep, familial natural, 2" "" "true" + "hypomagnesemia, seizures, and intellectual disability 1" "" + "hypomagnesemia, seizures, and intellectual disability 2" "" + "pseudo-TORCH syndrome 1" "" + "gaze palsy, familial horizontal, with progressive scoliosis 1" "" + "corneal dystrophy, Meesmann, 1" "" + "dwarfism with tall vertebrae" "" + "oculopharyngodistal myopathy 1" "" + "oculopharyngodistal myopathy" "Oculopharyngodistal myopathy (OPDM) is a rare, adult-onset hereditary muscle disease. People with OPDM present with progressive eye and throat (pharyngeal) problems and involvement of the muscles of the lower legs and arms. Symptoms may include eyelid drooping (ptosis), swallowing difficulty, hoarse and nasal voice, leg and arm weakness, as well as muscle wasting in the face and in the legs and arms. Many people have respiratory problems due to respiratory muscle weakness. In rare cases, there is also hearing loss, as well as severe weakness in muscles of the forearms and thighs. As the disease progresses, other muscles may be affected. A blood exam may show an increased creatine kinase level and an abnormal EMG. Inheritance may be autosomal dominant or autosomal recessive. The specific cause is still unknown." "" + "Silver-Russell syndrome 5" "" + "Silver-Russell syndrome 1" "" + "decompression sickness" "A condition occurring as a result of exposure to a rapid fall in ambient pressure. Gases, nitrogen in particular, come out of solution and form bubbles in body fluid and blood. These gas bubbles accumulate in joint spaces and the peripheral circulation impairing tissue oxygenation causing disorientation, severe pain, and potentially death." "" + "hypoparathyroidism, familial isolated, 2" "" + "basal cell neoplasm" "A neoplastic proliferation of basal cells in the epidermis (part of the skin) or other anatomic sites (most frequently the salivary glands). The basal cell neoplastic proliferation in the epidermis results in basal cell carcinomas. The basal cell neoplastic proliferation in the salivary glands can be benign, resulting in basal cell adenomas or malignant, resulting in basal cell adenocarcinomas." "" + "demyelinating disease of central nervous system" "Any condition in which there is degeneration of the myelin sheath that covers the nerves of the central nervous system." "" + "rectal medullary carcinoma" "A rare, invasive rectal adenocarcinoma characterized by the presence of sheets of malignant epithelial cells with vesicular nuclei, prominent nucleoli, and abundant eosinophilic cytoplasm. It usually has a favorable prognosis." "" + "obsolete basal cell cancer" "A neoplasm composed of basal cells that metastasizes to other anatomic sites." "" "true" + "obsolete bundle branch block" "A defect of the bundle branches or fascicles in the electrical conduction system of the heart." "" "true" + "benign basal cell neoplasm" "A neoplasm composed of basal cells that remains localized and does not metastasize to other anatomic sites." "" + "sinoatrial block" "A heart block that is initiated in the sinoatrial node." "" + "ovarian sertoli-stromal cell tumor" "A sex cord-stromal tumor that arises from the ovary and is composed entirely of, or in various combinations of, Sertoli cells, Leydig cells, and fibroblast-like cells." "" + "testicular sertoli cell tumor" "A sex cord-stromal tumor that arises from the testis and is characterized by the presence of neoplastic cells with features of Sertoli cells. It usually presents as a slow growing testicular mass. The vast majority of cases follow a benign clinical course." "" + "benign sertoli cell tumor" "A Sertoli cell tumor of the testis or the ovary which remains localized and does not metastasize to another anatomic site." "" + "sex cord-stromal benign neoplasm" "A reproductive organ benign neoplasm that arises in the ovary or testis and that is composed of granulosa cells, Leydig cells, Sertoli cells, and/or fibroblasts." "" + "obsolete congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome" "" "true" + "exposure, dental pulp" "The result of pathological changes in the hard tissue of a tooth caused by carious lesions, mechanical factors, or trauma, which render the pulp susceptible to bacterial invasion from the external environment." "" + "benign testicular sertoli cell tumor" "A non-metastasizing sex cord-stromal tumor that arises from the testis. Morphologically, it is characterized by the presence of Sertoli cells forming tubules. Leydig cells are rare or absent." "" + "benign neoplasm of testis" "A benign neoplasm that involves the testis." "" + "miliaria alba" "" + "dentigerous cyst" "Most common follicular odontogenic cyst. Occurs in relation to a partially erupted or unerupted tooth with at least the crown of the tooth to which the cyst is attached protruding into the cystic cavity. May give rise to an ameloblastoma and, in rare instances, undergo malignant transformation." "" + "miliaria papulosa" "" + "miliaria vesiculosa" "" + "secondary dentine" "Dentin formed by normal pulp after completion of root end formation." "" + "distal arthrogryposis type 2B1" "" + "infantile miliaria" "" + "diaphragmitis" "" + "congenital vertebral-cardiac-renal anomalies syndrome" "" + "methemoglobinemia, alpha type" "" + "oocyte maturation defect 5" "" + "anterior nasal diphtheria" "Infection of the anterior nasal structures by Corynebacterium diphtheriae." "" + "pulmonary alveolar proteinosis with hypogammaglobulinemia" "" + "neurodevelopmental disorder with cerebellar atrophy and with or without seizures" "" + "obsolete medullary carcinoma" "Medullary carcinoma may refer to one of several different tumors of epithelial origin. As the term 'medulla' is a generic anatomic descriptor for the mid-layer of various organ tissues, a medullary tumor usually arises from the 'mid-layer tissues' of the relevant organ." "" "true" + "pseudomembranous diphtheritic conjunctivitis" "Pseudomembranous colitis resulting from infection by Corynebacterium diphtheriae." "" + "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5" "" + "intellectual disability, autosomal recessive 64" "" + "intellectual disability, autosomal dominant 58" "" + "osteopetrosis, autosomal dominant 3" "" + "immunodeficiency 57" "" + "intellectual disability, autosomal recessive 65" "" + "spermatogenic failure 30" "" + "spermatogenic failure 31" "" + "encephalitis/encephalopathy, mild, with reversible myelin vacuolization" "" + "Liddle syndrome 2" "Any Liddle syndrome in which the cause of the disease is a mutation in the SCNN1G gene." "" + "spermatogenic failure 32" "" + "bone marrow failure syndrome 4" "" + "ovarian dysgenesis 7" "" + "mitochondrial complex 5 (ATP synthase) deficiency nuclear type 5" "" + "faucial diphtheria" "Infection of the fauces by Corynebacterium diphtheriae." "" + "laryngeal diphtheria" "Infection of the larynx by Corynebacterium diphtheriae." "" + "nasopharyngeal diphtheria" "Infection of the nasopharynx by Corynebacterium diphtheriae." "" + "obsolete name syndrome" "" "true" + "escherichia coli infection" "Infection with the organism Escherichia Coli." "" + "Mansonella ozzardi infection" "An infection that is caused by the organism Mansonella ozzardi." "" + "gonococcal urethritis" "Inflammation of the urethra secondary to infection with Neisseria gonorrhoeae; this infection is spread through sexual contact." "" + "laryngeal granuloma" "A tumor-like nodule or mass of inflammatory granulation tissue projecting into the lumen of the LARYNX." "" + "granulomatous prostatitis" "An infectious or non-infectious inflammatory process that affects the prostate gland. Infectious causative agents include bacteria, parasites, fungi, and viruses. It is characterized by the formation of granulomas in the prostatic tissue." "" + "pilosebaceous hamartoma" "A hamartoma characterized by localized pilosebaceous apparatus malformation." "" + "hair nevus" "A usually benign congenital skin growth that is often pigmented and sometimes develop coarse surface hair. There is a lifetime risk of transformation to malignant melanoma which varies depending on the size of the lesion." "" + "myocardial rupture" "Disease-related laceration or tearing of tissues of the heart, including the free-wall MYOCARDIUM; HEART SEPTUM; PAPILLARY MUSCLES; CHORDAE TENDINEAE; and any of the HEART VALVES. Pathological rupture usually results from myocardial infarction (HEART RUPTURE, POST-INFARCTION)." "" + "hereditary persistence of fetal hemoglobin" "The persistence of substantial fetal hemoglobin production into adulthood, usually associated with hemoglobinopathies due to mutations in the alpha and/or beta chain of hemoglobin." "" + "obsolete genetic chronic primary adrenal insufficiency" "" "true" + "hemochromatosis type 1" "Hemochromatosis type 1 (classic) is the most common form of hereditary hemochromatosis (HH), a group of diseases characterized by excessive tissue iron deposition. Due to its incidence (1/200-1/1000), it is not considered as a rare disease, unlike the other subforms of the disease" "" + "skin lymphangiosarcoma" "A malignant vascular neoplasm of the skin arising from the lymphatic vessels." "" + "hereditary progressive chorea without dementia" "" + "susceptibility to visceral leishmaniasis, 1" "" + "trichothiodystrophy 4, nonphotosensitive" "A subtype of trichothiodystrophy caused by mutation(s) in the MPLKIP gene, encoding M-phase-specific PLK1-interacting protein." "" + "autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)" "Autosomal dominant limb-girdle muscular dystrophy type 1D (LGMD1D) is a subtype of autosomal dominant limb-girdle muscular dystrophy characterized by an adult-onset of slowly progressive, proximal pelvic girdle weakness, with none, or only minimal, shoulder girdle involvement, and absence of cardiac and respiratory symptoms. Mild to moderate elevated creatine kinase serum levels and gait abnormalities are frequently observed. LGMD1D is caused by heterozygous missense mutations in the DNAJB6 gene at chr. 7q36.3." "" + "X-linked recessive ocular albinism" "X-linked recessive ocular albinism (XLOA) is a rare disorder characterized by ocular hypopigmentation, foveal hypoplasia, nystagmus, photodysphoria, and reduced visual acuity in males." "" + "Crigler-Najjar syndrome type 1" "Crigler-Najjar syndrome type 1 (CNS1) is the most severe form of CNS, a hereditary disorder of hepatic bilirubin conjugation, characterized by severe neonatal unconjugated hyperbilirubinemia due to a complete absence of hepatic bilirubin glucuronosyltransferase (BGT)." "" + "craniodiaphyseal dysplasia, autosomal dominant" "" + "complete androgen insensitivity syndrome" "Complete androgen insensitivity syndrome (CAIS) is a form of androgen insensitivity syndrome (AIS), a disorder of sex development (DSD), characterized by the presence of female external genitalia in a 46,XY individual with normal testis development but undescended testes and unresponsiveness to age-appropriate levels of androgens." "" + "cirrhosis, familial, with antigenemia" "" + "herpes zoster with dermatitis of eyelid" "A form of herpes zoster infection characterized by dermatitis of the skin of the eyelid due to reactivation of latent virus associated with the ophthalmic branch of the trigeminal nerve." "" + "herpes zoster dermatitis" "Painful, localized rash caused by reactivation of latent varicella zoster virus residing in nerve cell bodies, with resulting infection of the skin in the region supplied by the affected nerve." "" + "alopecia-intellectual disability syndrome 1" "" + "obsolete genetic neurodegenerative disease with dementia" "An instance of neurodegenerative disease with dementia that is caused by a modification of the individual's genome." "" "true" + "obsolete Wilms tumor" "An embryonal neoplasm characterized by the presence of epithelial, mesenchymal, and blastema components. The vast majority of cases arise from the kidney. A small number of cases with morphologic features resembling Wilms tumor of the kidney have been reported arising from the ovary and the cervix." "" "true" + "benign mastocytoma" "A localized mast cell neoplasm without metastatic potential." "" + "obsolete hemophagocytic syndrome" "" "true" + "parasympathetic paraganglioma" "A benign or malignant, usually non-functioning, extra-adrenal paraganglioma that arises from paraganglia located along the parasympathetic nerves. Representative examples include aorticopulmonary, carotid body, jugulotympanic, and mediastinal paragangliomas." "" + "parasympathetic nervous system disease" "A disease or disorder that involves the parasympathetic nervous system." "" + "familial adenomatous polyposis 1" "Any attenuated familial adenomatous polyposis in which the cause of the disease is a mutation in the APC gene." "" + "obsolete hereditary acrokeratotic poikiloderma of Kindler-Weary" "" "true" + "glomus jugulare neoplasm" "A neoplasm (disease) that involves the jugular body." "" + "anti-NMDA receptor encephalitis" "An autoimmune acute encephalitis caused by antibodies against the glutamate NMDA receptor. It usually affects females and in the majority of cases it is associated with the presence of a tumor, most commonly an ovarian teratoma. The presence of a tumor in patients with this form of encephalitis implies that the latter is a paraneoplastic syndrome. It is manifested with psychiatric symptoms and epileptic seizures. It is a potentially lethal disorder; however, it is usually reversible with the prompt removal of the tumor." "" + "congenital fibrosis of extraocular muscles type 1" "Any congenital fibrosis of extraocular muscles in which the cause of the disease is a mutation in the KIF21A gene." "" + "obsolete malignant granular cell myoblastoma" "" "true" + "lipid-rich breast carcinoma" "An invasive breast carcinoma characterized by the presence of cytoplasmic neutral lipids in the vast majority of the malignant cells." "" + "cranioectodermal dysplasia 1" "Any cranioectodermal dysplasia in which the cause of the disease is a mutation in the IFT122 gene." "" + "appendix L-cell glucagon-like peptide-producing neuroendocrine tumor" "A neuroendocrine tumor arising from the wall of the appendix, producing glucagon-like peptides. Morphologically, it is characterized by the presence of neoplastic cells forming tubular or trabecular patterns." "" + "obsolete collagen diseases" "Historically, a heterogeneous group of acute and chronic diseases, including rheumatoid arthritis, systemic lupus erythematosus, progressive systemic sclerosis, dermatomyositis, etc. This classification was based on the notion that 'collagen' was equivalent to 'connective tissue', but with the present recognition of the different types of collagen and the aggregates derived from them as distinct entities, the term 'collagen diseases' now pertains exclusively to those inherited conditions in which the primary defect is at the gene level and affects collagen biosynthesis, post-translational modification, or extracellular processing directly. (From Cecil Textbook of Medicine, 19th ed, p1494)" "" "true" + "alcoholic fatty liver disease" "Lipid infiltration of the hepatic parenchymal cells that is due to alcohol abuse. The fatty changes in the alcoholic fatty liver may be reversible, depending on the amounts of triglycerides accumulated." "" + "NAFLD1" "" + "luminal B breast carcinoma" "A biologic subset of breast carcinoma defined by low to moderate expression of genes characteristic of luminal epithelial cells including estrogen receptor (ER), and high expression of GGH, LAPTM4B, and CCNE1. This subtype of breast cancer is associated with a good prognosis, although not as favorable as the luminal A subtype." "" + "luminal A breast carcinoma" "A biologic subset of breast carcinoma defined by high expression of genes characteristic of luminal epithelial cells, including estrogen receptor (ER), estrogen regulated protein LIV-1, and the transcription factors hepatocyte nuclear factor 3, HNF3A, XBP1, and GATA 3. This subtype of breast cancer is associated with a good prognosis." "" + "obsolete small cell neuroendocrine carcinoma" "" "true" + "syndromic or isolated" "An characteristic of a disease that varies depending on whether the disease appears as an isolated feature or whether the disease is a syndrome consisting of multiple features." "" + "disorder of sphingolipid biosynthesis" "An acquired metabolic disease that is has its basis in the disruption of sphingolipid biosynthetic process." "" + "frontal lobe ependymal tumor" "An ependymal tumor affecting the frontal lobe of the brain." "" + "tertiary hyperparathyroidism" "An overproduction of parathyroid hormone that is autonomous and often associated with chronic secondary hyperparathyroidism." "" + "acquired factor XIII deficiency" "An acquired coagulation disorder due to reduced levels and activity of factor XIII." "" + "acquired factor X deficiency" "An bleeding disorder with a decreased antigen and/or activity of factor X (FX) that is acquired. Acquired factor X deficiency is a rare disorder, commonly associated with a preceding viral illness and a circulating FX inhibitor. Although multiple treatment modalities have been described with variable success, in many cases, it is a self-limited condition." "" + "rare or common" "" + "congenital or acquired" "" + "genetic vs non-genetic etiology" "" + "obsolete genetic characteristic" "" "true" + "non-genetic" "" + "obsolete genetic and acquired" "" "true" + "obsolete amyotonia congenita" "" "true" + "Timothy syndrome type 1 (disorder)" "Classic form of Timothy syndrome, includes all features of generic." "" + "Timothy syndrome type 2 (disorder)" "Atypical form of Timothy syndrome, causes a more severe form of long QT syndrome and a greater risk of arrhythmia and sudden death." "" + "herpetic vulvovaginitis" "Infection of the vulva and the vagina caused by herpes simplex virus." "" + "autoimmune hepatitis type 2" "Autoimmune hepatitis characterized by the presence of anti-liver kidney microsomal antibody type 1 (anti-LKM1) and/or anti-liver cytosol type 1 (anti-LC1) autoantibodies." "" + "autoimmune hepatitis type 3" "Autoimmune hepatitis characterized by the presence of antibodies to soluble liver or liver-pancreas antigens." "" + "acquired xanthinuria" "Acquired xanthinuria is generally iatrogenic. Allopurinol treatment, administered to block XOR and prevent uric acid overproduction, leads to the accumulation of xanthine. Rarely, in the setting of aggressive chemotherapy with rapid tumor lysis or in patients with HPRT deficiency on allopurinol therapy, complications of renal failure can develop from xanthine crystal nephropathy." "" + "HTLV-2 infection" "" + "obsolete hemangiopericytoma" "" "true" + "obsolete disease by subcellular system affected" "A grouping of diseases based on molecular activity, cellular process or subcellular component." "" "true" + "obsolete disease by cellular process disrupted" "" "true" + "obsolete disease by molecular activity disrupted" "" "true" + "obsolete disease by cellular component affected" "" "true" + "obsolete rare genetic disease" "True" "true" + "obsolete rare disease" "Any of the forms of disease that have a rare incidence." "True" "true" + "" "true" + "" "true" + "" "true" + "" "true" + "" "true" + "" "true" + "" "true" + "" "true" + "neoplasm of major salivary gland" "A neoplasm (disease) that involves the major salivary gland." "" + "obsolete renal pelvis neoplasm" "" "true" + "obsolete lung hilum neoplasm" "" "true" + "" "true" + "" "true" + "leiomyoma of ciliary body" "A leiomyoma that involves the ciliary body." "" + "benign neoplasm of ciliary body" "A benign neoplasm that involves the ciliary body." "" + "papilloma of eyelid" "A papilloma that involves the eyelid." "" + "papilloma of buccal mucosa" "A papilloma that involves the buccal mucosa." "" + "benign neoplasm of buccal mucosa" "A benign neoplasm that involves the buccal mucosa." "" + "" "true" + "mucoepidermoid carcinoma of submandibular gland" "A mucoepidermoid carcinoma that involves the submandibular gland." "" + "mucoepidermoid carcinoma of parotid gland" "A mucoepidermoid carcinoma that involves the parotid gland." "" + "cavernous hemangioma of retina" "A cavernous hemangioma that involves the retina." "" + "malignant teratoma of testis" "A malignant teratoma that involves the testis." "" + "malignant teratoma of mediastinum" "A malignant teratoma that involves the mediastinum." "" + "carcinoma in situ of ureter" "A in situ carcinoma that involves the ureter." "" + "carcinoma in situ of urethra" "A in situ carcinoma that involves the urethra." "" + "" "true" + "carcinoma in situ of epiglottis" "A in situ carcinoma that involves the epiglottis." "" + "carcinoma in situ of hypopharynx" "A in situ carcinoma that involves the hypopharynx." "" + "carcinoma in situ of cecum" "A in situ carcinoma that involves the caecum." "" + "carcinoma in situ of appendix" "A in situ carcinoma that involves the vermiform appendix." "" + "carcinoma in situ of fundus of stomach" "A in situ carcinoma that involves the fundus of stomach." "" + "carcinoma in situ of gastric body" "A in situ carcinoma that involves the body of stomach." "" + "carcinoma in situ of gastric cardia" "A in situ carcinoma that involves the cardia of stomach." "" + "carcinoma in situ of renal pelvis" "A in situ carcinoma that involves the renal pelvis." "" + "carcinoma in situ of nasopharynx" "A in situ carcinoma that involves the nasopharynx." "" + "carcinoma in situ of oropharynx" "A in situ carcinoma that involves the oropharynx." "" + "oropharyngeal carcinoma" "Carcinoma, predominantly squamous cell, arising from the epithelial cells of the oropharynx." "" + "carcinoma in situ of extrahepatic bile duct" "A in situ carcinoma that involves the extrahepatic bile duct." "" + "adenoid cystic carcinoma of oropharynx" "A adenoid cystic carcinoma that involves the oropharynx." "" + "adenoma of nipple" "A adenoma that involves the nipple." "" + "" "true" + "malignant tumor of minor salivary gland" "A cancer that involves the minor salivary gland." "" + "neoplasm of minor salivary gland" "A neoplasm (disease) that involves the minor salivary gland." "" + "cancer of cerebellum" "A cancer that involves the cerebellum." "" + "malignant tumor of floor of mouth" "A cancer that involves the mouth floor." "" + "neoplasm of floor of mouth" "A neoplasm (disease) that involves the mouth floor." "" + "malignant neoplasm of abdominal esophagus" "A cancer that involves the abdominal part of esophagus." "" + "malignant neoplasm of thoracic esophagus" "A cancer that involves the thoracic part of esophagus." "" + "malignant neoplasm of cervical esophagus" "A cancer that involves the cervical part of esophagus." "" + "carcinoma of soft palate" "A carcinoma that arises from the soft palate. The majority are squamous cell carcinomas." "" + "immunoproliferative disorder" "Disorders characterized by abnormal proliferation of primary cells of the immune system or by excessive production of immunoglobulins." "" + "carcinoma of hard palate" "A carcinoma that involves the hard palate." "" + "intertrigo" "A superficial dermatitis occurring on skin surfaces in contact with each other, such as the axillae, neck creases, intergluteal fold, between the toes, etc. Obesity is a predisposing factor. The condition is caused by moisture and friction and is characterized by erythema, maceration, burning, and exudation." "" + "" "true" + "" "true" + "leukemia, myeloid, accelerated-phase" "The phase of chronic myeloid leukemia following the chronic phase (leukemia, myeloid, chronic-phase), where there are increased systemic symptoms, worsening cytopenias, and refractory leukocytosis." "" + "" "true" + "hypertrophic lichen planus" "A form of lichen planus that is characterized by plaques of markedly thickened skin that is often extremely pruritic and localized to the lower legs. It can result in permanent pigmentation and scarring." "" + "neoplasm of aortic body" "A benign or malignant extra-adrenal parasympathetic paraganglioma that arises from paraganglia adjacent to the base of the heart and great vessels." "" + "polyp of ureter" "A polyp that involves the ureter." "" + "polyp of vagina" "A polyp that involves the vagina." "" + "polyp of external auditory canal" "A polyp that involves the external acoustic meatus." "" + "polyp of sphenoidal sinus" "A polyp that involves the sphenoidal sinus." "" + "polyp of frontal sinus" "A polyp that involves the frontal sinus." "" + "polyp of maxillary sinus" "A polyp that involves the maxillary sinus." "" + "polyp of ethmoidal sinus" "A polyp that involves the ethmoid sinus." "" + "polyp of vocal cord" "A non-neoplastic polypoid swelling of the vocal cord mucosa. It is usually unilateral and caused by excessive use of the voice." "" + "carcinoid tumors, intestina" "True" + "" "true" + "hemangiopericytoma of skin" "A hemangiopericytoma that involves the zone of skin." "" + "squamous cell carcinoma of lip" "A squamous cell carcinoma that involves the lip." "" + "squamous cell carcinoma of floor of mouth" "A squamous cell carcinoma that involves the mouth floor." "" + "squamous cell carcinoma of buccal mucosa" "A squamous cell carcinoma that involves the buccal mucosa." "" + "" "true" + "" "true" + "" "true" + "lipoma of stomach" "A lipoma that involves the stomach." "" + "benign neoplasm of pituitary gland" "A benign neoplasm that involves the pituitary gland." "" + "benign neoplasm of exocrine pancreas" "A benign neoplasm that involves the exocrine pancreas." "" + "benign neoplasm of pancreas" "A benign neoplasm that involves the pancreas." "" + "benign neoplasm of lymph node" "A benign neoplasm that involves the lymph node." "" + "benign neoplasm of epiglottis" "A benign neoplasm that involves the epiglottis." "" + "benign neoplasm of hypopharynx" "A benign neoplasm that involves the hypopharynx." "" + "" "true" + "benign neoplasm of retina" "A benign neoplasm that involves the retina." "" + "benign neoplasm of neck" "A benign neoplasm that involves the neck." "" + "benign neoplasm of sternum" "A benign neoplasm that involves the sternum." "" + "benign neoplasm of penis" "A benign neoplasm that involves the penis." "" + "benign neoplasm of pharynx" "A benign neoplasm that involves the pharynx." "" + "benign neoplasm of cecum" "A benign neoplasm that involves the caecum." "" + "" "true" + "benign neoplasm of endometrium" "A benign neoplasm that involves the endometrium." "" + "benign neoplasm of tongue" "A benign neoplasm that involves the tongue." "" + "benign neoplasm of nasopharynx" "A benign neoplasm that involves the nasopharynx." "" + "benign neoplasm of oropharynx" "A benign neoplasm that involves the oropharynx." "" + "benign neoplasm of soft palate" "A benign neoplasm that involves the soft palate." "" + "benign neoplasm of submandibular gland" "A benign neoplasm that involves the submandibular gland." "" + "benign neoplasm of major salivary gland" "A benign neoplasm that involves the major salivary gland." "" + "benign neoplasm of iris" "A benign neoplasm that involves the iris." "" + "benign neoplasm of choroid" "A benign neoplasm that involves the optic choroid." "" + "benign neoplasm of lacrimal gland" "A benign neoplasm that involves the lacrimal gland." "" + "benign neoplasm of sebaceous gland" "A benign neoplasm that involves the sebaceous gland." "" + "benign neoplasm of gum" "A benign neoplasm that involves the gingiva." "" + "benign neoplasm of minor salivary gland" "A benign neoplasm that involves the minor salivary gland." "" + "benign neoplasm of parotid gland" "A benign neoplasm that involves the parotid gland." "" + "benign neoplasm of sublingual gland" "A benign neoplasm that involves the sublingual gland." "" + "benign neoplasm of lip" "A benign neoplasm that involves the lip." "" + "" "true" + "benign neoplasm of endocardium" "A benign neoplasm that involves the endocardium." "" + "benign neoplasm of myocardium" "A benign neoplasm that involves the myocardium." "" + "benign neoplasm of tonsil" "A benign neoplasm that involves the tonsil." "" + "benign neoplasm of glottis" "A benign neoplasm that involves the glottis." "" + "benign neoplasm of hard palate" "A benign neoplasm that involves the hard palate." "" + "benign neoplasm of floor of mouth" "A benign neoplasm that involves the mouth floor." "" + "benign neoplasm of male breast" "A non-metastasizing neoplasm that arises from the breast parenchyma in males." "" + "fibroma of lung" "A fibroma that involves the lung." "" + "fibroma of prostate" "A fibroma that involves the prostate gland." "" + "rectal neuroendocrine tumor G1" "A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the rectum. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent." "" + "pancreatic neuroendocrine tumor G1" "A low grade well differentiated tumor with neuroendocrine differentiation that arises from the pancreas. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal or less than 2%." "" + "" "true" + "undifferentiated carcinoma of nasopharynx" "A undifferentiated carcinoma that involves the nasopharynx." "" + "verrucous carcinoma of oral cavity" "A verrucous carcinoma that involves the oral cavity." "" + "hamartoma of lung" "A hamartoma (disease) that involves the lung." "" + "hemangioma of choroid" "A hemangioma that involves the optic choroid." "" + "hemangioma of gingiva" "A hemangioma that involves the gingiva." "" + "" "true" + "amelogenesis imperfecta type 3B" "" + "total early-onset cataract" "" + "transverse myelitis" "" + "" "true" + "Emery-Dreifuss muscular dystrophy 2, autosomal dominant" "Emery-Dreifuss muscular dystrophy inherited in an autosomal dominant pattern and caused by mutations in the LMNA gene." "" + "obsolete Hauptmann-Thannhauser muscular dystrophy" "" "true" + "multiple sclerosis, susceptibility to 1" "" + "oocyte maturation defect 2" "Any inherited oocyte maturation defect in which the cause of the disease is a mutation in the TUBB8 gene." "" + "oocyte maturation defect 3" "" + "oocyte maturation defect 4" "" + "fallopian tube endometrioid tumor" "A benign, borderline, or malignant epithelial tumor of the fallopian tube that is characterized by the presence of glands and/or cysts lined by neoplastic cells that resemble endometrial cells." "" + "malignant mediastinal neural neoplasm" "" + "eyelid sebaceous gland carcinoma" "A sebaceous gland carcinoma affecting the eyelid. It arises from the meibomian glands, glands of Zeis, or glands associated with the caruncle. It usually affects elderly women and is characterized by high rate of local recurrence, regional, and distant metastases." "" + "eyelid seborrheic keratosis" "A seborrheic keratosis that involves the eyelid." "" + "eyelid capillary hemangioma" "A capillary hemangioma arising from the eyelid." "" + "obsolete lacrimal system disease" "" "true" + "primary brain neoplasm" "" + "vulval varices" "A varicose disease that involves the mammalian vulva." "" + "mesenteric varices" "A varicose disease that involves the mesentery." "" + "esophageal varices without bleeding" "" + "esophageal varices with bleeding" "" + "diffuse cutaneous mucinosis" "" + "deep seated dermatophytosis" "A deep folliculitis due to a cutaneous dermatophyte infection, usually on the legs. It is most commonly caused by trichophyton rubrum and is characterized by the formation of spongy granulomas which persist for three to four months and leaves deep scars." "" + "cervical aortic arch" "" + "obsolete Refsum disease" "A rare autosomal recessive condition caused by mutation(s) in the PHYH gene, encoding phytanoyl-CoA dioxygenase, peroxisomal. It is characterized by abnormalities in the breakdown of phytanic acid and impaired growth of myelin sheaths. Signs and symptoms include neurologic damage, cerebellar degeneration, and neuropathy." "" "true" + "obsolete disorder involving pain" "" "true" + "obsolete transmissible disease" "OBSOLETE A disease that can be transmitted from one organism to another, typically but not always by an infectious process." "" "true" + "obsolete infectious disease of central nervous system" "" "true" + "alcohol amnestic disorder" "A mental disorder associated with chronic ethanol abuse (ALCOHOLISM) and nutritional deficiencies characterized by short term memory loss, confabulations, and disturbances of attention. (Adams et al., Principles of Neurology, 6th ed, p1139)" "" + "polyneuritis" "Inflammation of several peripheral nerves." "" + "obsolete fetal alcohol spectrum disorders" "" "true" + "vulvodynia" "Vulvodynia is a chronic pain syndrome that affects the vulvar area and occurs without an identifiable cause. Symptoms typically include a feeling of burning or irritation. For the diagnosis to be made symptoms must last at least 3 months." "" + "obsolete Abderhalden-Kaufmann-Lignac syndrome" "" "true" + "abdominal cystic lymphangioma" "Abdominal cystic lymphangioma is a benign (noncancerous) malformation of the lymphatic vessels in the abdomen. These vessels carry lymph, a fluid that contains white blood cells that fight infection, throughout the body. The severity of the condition and the associated features vary from person to person. When present, signs and symptoms may include abdominal pain, an increase in waist circumference, an abdominal mass, intestinal obstruction, and/or volvulus (a twisting of the intestines). The cause of abdominal cystic lymphangioma is poorly understood; however, scientists suspect that it is a congenital anomaly. Most cases are diagnosed in people with no family history of the condition. Treatment varies based on the severity of the condition. People with small malformations that do not cause any symptoms may simply be followed with regular imaging studies to monitor for progression. Some of these cases may resolve spontaneously without treatment. When necessary, surgical excision is often the treatment of choice since it is associated with the lowest risk of recurrence.." "" + "aberrant subclavian artery" "Aberrant subclavian artery is a rare vascular anomaly that is present from birth. It usually causes no symptoms and is oftendiscovered as an incidental finding (such as througha barium swallow or echocardiogram). Occasionally the anomaly causes swallowing difficulty (dysphagia lusoria). Swallowing symptoms in childrenmay present asfeeding difficulty and/or recurrent respiratory tract infection. When aberrant subclavian artery causes no symptoms, treatment is not needed. If the anomaly is causing significant symptoms, treatment may involve surgery. Children with symptomatic aberrant subclavian artery should be carefully evaluated for additional vascular and heart anomalies.." "" + "proctosigmoiditis" "Inflammation of the sigmoid colon and rectum." "" + "proctocolitis" "Inflammation of the rectum and colon." "" + "prurigo" "A name applied to several itchy skin eruptions of unknown cause. The characteristic course is the formation of a dome-shaped papule with a small transient vesicle on top, followed by crusting over or lichenification. (From Dorland, 27th ed)" "" + "puerperal infection" "An infection occurring in puerperium, the period of 6-8 weeks after giving birth." "" + "psychosocial short stature" "A growth disorder that is observed between the ages of 2 and 15, caused by extreme emotional deprivation or stress." "" + "pyelocystitis" "" + "pyonephrosis" "Pus within the collecting system of the kidney." "" + "Achard-Thiers syndrome" "Achard–Thiers syndrome combines the features of adrenogenital syndrome and Cushing syndrome. It occurs mainly in post-menopausal women" "" + "acquired agranulocytosis" "Agranulocytosis that is autoimmune in origin." "" + "acquired fructose intolerance" "Acquired fructose intolerance is a condition in which the body can not properly absorb the sugar, fructose. As a result, affected people may experience gastrointestinal symptoms, such as gas, abdominal pain, bloating and/or diarrhea, depending on the quantity of fructose consumed and the presence of other sugars ingested with it. Gastrointestinal symptoms related to acquired fructose intolerance appear to be more common in people who have an underlying functional bowel disorder such as irritable bowel syndrome. The underlying cause of the condition is poorly understood. It is distinct from the rare, genetic form of fructose intolerance (called hereditary fructose intolerance), which usually develops earlier in life and often affects more than one family member. Acquired fructose intolerance is generally managed with dietary modifications." "" + "acral dysostosis dyserythropoiesis syndrome" "An erythrocytic disorder that is characterized by macrocytosis and megaloblastic changes of the bone marrow cells, with additional morphological defects of hands and feet." "" + "acrocoxomesomelic dysplasia" "A severe, dysmorphic condition is characterized by shortening of median and distal segments of the limbs without anomalies of the spine." "" + "acrofacial dysostosis preis type" "Acrofacial dysostosis with pre-and postaxial involvement; a postaxial defect of the right, and a preaxial defect of the left hand. This is an n-of-1 use case where only one patient or family has been described with this disorder." "" + "radiculitis" "An inflammatory process affecting a nerve root. Patients experience pain radiating along a nerve path because of spinal pressure on the nerve root that connects to the nerve path." "" + "acute rheumatic heart disease" "Pancarditis, involving inflammation of the endocardium, myocardium, and epicardium. It results from an autoimmune reaction following an infection with Streptococcus pyogenes (Group A Streptococci)." "" + "streptococcal sore throat" "Inflammation of the throat due to Streptococcus pyogenes." "" + "silicotuberculosis" "Pulmonary or extrapulmonary infection caused by MYCOBACTERIUM TUBERCULOSIS or nontuberculous mycobacteria in a patient with silicosis." "" + "acromesomelic dysplasia, Campailla Martinelli type" "" + "acute cholinergic dysautonomia" "A primary dysautonomia characterized by hypohidrosis and selective parasympathetic peripheral autonomic nerve disturbances of acute onset." "" + "primary dysautonomia" "Disorders of the autonomic nervous system occurring as a primary condition. Manifestations can involve any or all body systems but commonly affect the blood pressure and heart rate." "" + "dysautonomia" "An acute or chronic disorder, affecting the sympathetic or parasympathetic nervous system. It can be primary, the result of central nervous system degeneration, or secondary due to diabetes or alcoholism. Patients with the chronic form of this disorder usually have a progressive clinical course and a poor prognosis." "" + "acute mountain sickness" "Acute mountain sickness is characterized by altitude sickness that affects otherwise healthy persons, develops within hours after arriving at altitude, and results in functional impairment from symptoms that may include headache, anorexia, nausea, vomiting, dizziness, fatigue, and sleep disturbances." "" + "adnexal spiradenoma/cylindroma of a sweat gland" "A benign sweat gland neoplasm usually occurring in the scalp or the face. It may present as solitary or multiple papular or nodular lesions. It may be a sporadic lesion or part of Brooke-Spiegler syndrome. It arises from the dermis and has a multinodular, circumscribed appearance. The nodules contain basaloid cells with small, dark nuclei. Complete excision is usually curative." "" + "adult progressive spinal muscular atrophy, Aran Duchenne type" "A progressive muscle weakness and atrophy of the limbs that irregularly affects certain muscles, while it spares others." "" + "aerobic Actinomyces infection" "Infection with the less common aerobic antinomyces bacteria." "" + "agnathia-microstomia-synotia" "" + "Akaba Hayasaka syndrome" "A syndrome characterized by frontal bossing, cloudy corneae, low nasal ridge, and micrognathia, hypoplastic thorax, and rhizomelic micromelia." "" + "Aksu von Stockhausen syndrome" "A syndrome characterized by a malformations of the neck due to a branchial arch defect. In the neonatal period the following signs were noted: symmetrical preauricular pits, retroauricular additional rudimentary auricles, a blindly ending coccygeal groove, microstomia and papillomata of the hypopharynx. This is an n-of-1 use case where only one patient or family has been described with this disorder." "" + "Al Gazali Khidr Prem Chandran syndrome" "A disease characterized by cherubism (disorder characterized by abnormal bone tissue in the lower part of the face. Beginning in early childhood, both the lower jaw (the mandible) and the upper jaw (the maxilla) become enlarged as bone is replaced with painless, cyst-like growths.), visual impairment due to optic atrophy and short stature. This is an n-of-1 use case where only one patient or family has been described with this disorder." "" + "Aloi Tomasini Isaia syndrome" "A syndrome characterized by a unilateral linear basal cell nevus, diffuse osteoma cutis, unilateral anodontia (missing teeth), and abnormal bone mineralization. This is an n-of-1 use case where only one patient or family has been described with this disorder." "" + "alopecia macular degeneration growth retardation syndrome" "" + "alopecia universalis onychodystrophy vitiligo" "A syndrome characterized by total alopecia (hair loss), total vitíligo, and nail changes. The nail changes consist of fine pitting, associated with softness, and friability and may include horizontal splitting. The vitiligo is characterized by complete, rapid uniform loss of pigment which occurrs without going through a patchy state. The entire cutaneous surface is light and translucent-appearing and is prone to burning on exposure to the sun." "" + "Alsing syndrome" "An autosomal recessive, oculo-reno-skeletal syndrome characterized by bilateral atypical macular coloboma, familial juvenile nephronophthisis and mesomelic skeletal dysplasia of upper limbs with bilateral radiohumeral fusion." "" + "small cell variant anaplastic large cell lymphoma" "A histologic variant of anaplastic large cell lymphoma characterized by the presence of a predominant population of small to medium size malignant cells with irregular nuclei." "" + "temporomandibular joint dysfunction syndrome" "A common disorder noted with jaw movement. It may be caused by malocclusion, repetitive use injury, trauma or arthritis. It is more prevalent among females between their second and fourth decades. Clinical signs include preauricular pain, temporomandibular joint clicking (as the mandibular condyle slips from the articulation made with the capsular disc and temporal bone) and restriction of jaw motion. Clinical course is typically benign but may progress to associated headaches, ear and neck pain, tinnitus and dislocation of temporomandibular joint. Prognosis is favorable as a majority of cases will respond to conservative management." "" + "anterior spinal artery stroke" "" + "aortopulmonary window" "A rare, congenital anomaly in the aorta in which a communication exists between the ascending aorta and the pulmonary artery." "" + "apert-like polydactyly syndrome" "" + "aplasia cutis autosomal recessive" "Aplasia cutis with autosomal recessive inheritance." "" + "aplasia cutis congenita dominant" "Aplasia cutis congenita with with autosomal dominant inheritance with reduced penetrance." "" + "obsolete aplasia cutis congenita recessive" "" "true" + "obsolete aplasia cutis myopia" "" "true" + "aquagenic pruritus" "Aquagenic pruritus is a conditionin which contact with water of any temperature causes intense itching, without any visible skin changes. The symptoms may begin immediately after contact and can last for an hour or more. The cause of aquagenic pruritus is unknown; however, familial cases have been described. It may be a symptom of polycythemia vera or another underlying condition. Overall, treatment is a challenge. Antihistamines, UVB phototherapy, PUVA therapy and various medications have been tried with varying degrees of success." "" + "arakawa syndrome 2" "A rare autosomal dominant inherited metabolic disorder characterized by deficiency of the enzyme tetrahydrofolate-methyltransferase. It results in the abnormal metabolism of methylcobalamin. Signs and symptoms include mental retardation, megaloblastic anemia, hypotonia, epilepsy, and hepatosplenomegaly." "" + "arena syndrome" "" + "Arnold stickler bourne syndrome" "" + "Arroyo Garcia Cimadevilla syndrome" "A syndrome characterized by bilateral anophthalmia (absence of one or both eyes), esophageal atresia (the upper esophagus ends and does not connect with the lower esophagus and stomach), and cryptorchidism (a condition in which one or both of the testes fail to descend from the abdomen into the scrotum). This is an n-of-1 use case where only one patient or family has been described with this disorder." "" + "arthrogryposis epileptic seizures migrational brain disorder" "" + "traumatic myositis ossificans" "Myositis Ossificans resulting from trauma." "" + "infection by Trypanosoma gambiense" "Trypanosomiasis caused by infection by Trypanosoma brucei gambiense." "" + "aspergillus niger infection" "A infectious disease involving the Aspergillus niger." "" + "obsolete Asrar Facharzt Haque syndrome" "" "true" + "infection by Trypanosoma rhodesiense" "An infection with Trypanosoma brucei rhodesiense." "" + "tuberculoma" "A tumor-like mass resulting from the enlargement of a tuberculous lesion." "" + "cutaneous tuberculosis" "" + "autoimmune oophoritis" "Autoimmune oophoritis is a rare cause of primary ovarian insufficiency (POI). It happens when the body's immune system mistakenly attacks the ovaries causing inflammation, atrophy and fibrosis. These changes stop the ovaries from working normally. The main symptoms of autoimmune oophorotis are irregular or absent menstrual period (amenorrhea) and symptoms related to ovarian cysts such as abdominal cramping, bloating, nausea and vomiting. Autoimmune oophoritis may occur as part of autoimmune polyglandular syndrome type I and type II but has also been associated with lupus, pernicious anemia, myasthenia gravis and other autoimmune conditions. The underlying cause of autoimmune oophoritis is unknown. Diagnosis involves a special blood test which looks for anti-steroid or anti-ovarian antibodies, a pelvic ultrasound to look for enlarged cystic ovaries and tests to rule out other possible causes of POI. Management of autoimmune oophoritis involves emotional support, possible estrogen replacement therapy and management of other autoimmune conditions." "" + "autoimmune progesterone dermatitis" "Autoimmune progesterone dermatitis (APD) is primarily characterized by a recurrent skin rash that varies in severity depending on the phase of the menstrual cycle. The rash generally appears during the second half of the cycle when levels of the hormone, progesterone, begin to rise and it subsides shortly after menstruation. Although the exact underlying cause of APD is not well understood, it is thought to involve an abnormal immune reaction (autoimmune response) triggered by a woman's own progesterone. Depending on the severity of the condition, treatment may include topical (applied to the skin) medications, systemic corticosteroids, hormone therapy to suppress the production of progesterone, and/or surgical removal of the ovaries." "" + "tuberculous fibrosis of lung" "Scarring of the lung parenchyma caused by pulmonary tuberculosis." "" + "autosomal recessive nonsyndromic congenital nuclear cataract" "" + "ureteritis" "An acute or chronic inflammatory process affecting the ureter." "" + "baetz-greenwalt syndrome" "" + "bagatelle Cassidy syndrome" "" + "baker Vinters syndrome" "A very rare syndrome characterized by craniosynostosis (premature fusion of skull bones), hydrocephalus (an abnormal increase of cerebrospinal fluid in the ventricles of the brain) and abnormal development of the channel or duct in the middle of the brain that connects the third and fourth ventricles. This is an n-of-1 use case where only one patient or family has been described with this disorder." "" + "Banti syndrome" "A syndrome characterized by hypochromic anemia with leukopenia, splenomegaly, late onset hepatic cirrhosis and death from gastric hemorrhages." "" + "obsolete Baraitser Rodeck garner syndrome" "" "true" + "basaloid follicular hamartoma" "A type of pilosebaceous hamartoma characterized by basal cell epitheliomata, epidermoid cysts and comedones, and epidermal atrophy." "" + "Basaran Yilmaz syndrome" "A congenital hypotrichosis that is characterized by trichorrhexis nodosa and trichoptilosis, dry skin, keratosis pilaris and leukonychia totalis. Other features include progressive transgrediens type of palmoplantar keratoderma, and hyperkeratotic lesions on the knees, elbows and perianal region." "" + "Berk-Tabatznik syndrome" "" + "water intoxication" "A condition resulting from the excessive retention of water with sodium depletion." "" + "bobble-head doll syndrome" "Bobble-head doll syndrome (BHDS) is a rare neurological condition thatis typically first seen in childhood. The signs and symptoms of BHDS includecharacteristic up and downhead movements that increase during walking and excitement and decrease during concentration.Although the specific cause of this condition is unknown, BHDS is often seen with cysts in the third ventricle of the brain that alsocause hydrocephalus (water on the brain). Treatment for BHDS may involve surgical removal of the cyst causing the condition or using a shunt to drain excess water on the brain." "" + "Boerhaave syndrome" "A syndrome characterized by spontaneous longitudinal transmural rupture of the esophagus, usually in its distal part." "" + "Borrone di Rocco Crovato syndrome" "" + "Boudhina Yedes Khiari syndrome" "Familial syndrome combining short stature, microcephaly, mental deficiency, seizures, hearing loss, and skin lesions" "" + "bowenoid papulosis" "Dysplastic papular lesions presenting on the genitalia of either sex. The lesions are associated with human papillomavirus infection. The majority of cases have a benign clinical course, although, a small number of cases with malignant transformation have been reported." "" + "boylan dew greco syndrome" "" + "large-cell immunoblastic lymphoma" "Malignant lymphoma characterized by the presence of immunoblasts with uniformly round-to-oval nuclei, one or more prominent nucleoli, and abundant cytoplasm. This class may be subdivided into plasmacytoid and clear-cell types based on cytoplasmic characteristics. A third category, pleomorphous, may be analogous to some of the peripheral T-cell lymphomas (LYMPHOMA, T-CELL, PERIPHERAL) recorded in both the United States and Japan." "" + "Calabro syndrome" "" + "calcifying epithelial odontogenic tumor" "A slow growing, locally invasive neoplasm arising from tooth-forming tissues. It most often grows intraosseously in the mandible and less frequently in the maxilla. In a minority of cases it grows extraosseously in the gingiva. It is characterized by the presence of a fibrous stroma, epithelial cells with abundant eosinophilic cytoplasm, and amyloid material which is often calcified. Small tumors may be successfully treated with enucleation. Local resection is usually required for larger tumors. Recurrences have been reported in a minority of cases." "" + "calloso-genital dysplasia" "" + "Cantu sanchez-corona fragoso syndrome" "" + "Cantu sanchez-corona hernandez syndrome" "Mild mental deficiency, short stature, macrocranium, cardiac anomalies, cutis laxa, peculiar facies, wrinkled palms and soles, small vertebral bodies" "" + "carbon baby syndrome" "Carbon baby syndrome, also known as universal acquired melanosis, is a rare form of hyperpigmentation. The skin of affected infants progressively darkens over the first years of life in the absence of other symptoms. The cause of the condition is unknown." "" + "Carnevale hernandez castillo syndrome" "" + "Cartwright Nelson Fryns syndrome" "" + "pyogenic granuloma" "A disorder of the skin, the oral mucosa, and the gingiva, that usually presents as a solitary polypoid capillary hemangioma often resulting from trauma. It is manifested as an inflammatory response with similar characteristics to those of a granuloma." "" + "catamenial pneumothorax" "Catamenial pneumothorax is an extremely rare condition that affects women. Pneumothorax is the medical term for a collapsed lung, a condition in which air or gas is trapped in the space surrounding the lungs causing the lungs to collapse. Women with catamenial pneumothorax have recurrent episodes of pneumothorax that occur within 72 hours before or after the start of menstruation. The exact cause of catamenial pneumothorax is unknown and several theories have been proposed. Many cases are associated with the abnormal development of endometrial tissue outside of the uterus (endometriosis). Some believe that catamenial pneumothorax is the most common form of thoracic endometriosis (a condition in which the endometrial tissue grows in or around the lungs). A diagnosis of catamenial pneumothorax is usually suspected when a woman of reproductive age and with endometriosis has episodes of pneumothorax.Treatment is with hormones and surgery." "" + "chronic prostatitis" "An infectious or non-infectious chronic inflammatory process that affects the prostate gland." "" + "catatrichy" "" + "central centrifugal cicatricial alopecia" "" + "Charles bonnet syndrome" "Charles Bonnet syndrome (CBS) refers to the presenceof visual hallucinations in individuals with visual acuity loss without havingpsychosis or dementia. The condition is likely caused by the brain continuing to interpret images, even in their absence. Underlying conditions of vision loss associated with Charles Bonnet syndrome are diverse (including conditions such as macular degeneration and stroke) and may affect the eye, optic nerve, or brain. Hallucinations often resolve if the underlying vision deficit is corrected and can also remit in some individuals with static or progressive vision loss. Treatment is individualized." "" + "obsolete Chiari malformation type II" "" "true" + "Chitty Hall Webb syndrome" "" + "chromhidrosis" "A rare condition characterized by the secretion of colored sweat, caused by the deposition of lipofuscin in the sweat glands. Usually chromhidrosis affects the apocrine glands, mainly on the face and underarms." "" + "chromosome 13q-mosaicism" "" + "chronic erosive gastritis" "" + "treatment for disease" "True" + "has treatment by surgery" "True" + "locational disease characteristic" "" + "pustular psoriasis" "" + "crystal arthropathy" "" + "Parinaud syndrome" "A rare syndrome affecting conjugate vertical eye movement. It is often caused by a dorsal midbrain neoplasm, commonly a pinealoma, but may also be attributable to demyelinating diseases or stroke. Clinical signs include limitation of upward gaze, light-near dissociation of the pupillary response, eyelid retraction (Collier's sign) and convergence-retraction nystagmus. Clinical course is dependent on effective treatment of underlying cause." "" + "colpocephaly" "Colpocephaly is a congenital brain abnormality in which the occipital horns - the posterior or rear portion of the lateral ventricles (cavities) of the brain - are larger than normal because white matter in the posterior cerebrum has failed to develop or thicken." "" + "obsolete congenital hepatic fibrosis" "" "true" + "" "true" + "" "true" + "vascular disorder of penis" "A non-neoplastic or neoplastic disorder that affects the blood vessels of the penis. Representative examples include atherosclerosis, venous leak, and hemangioma." "" + "corticobasal degeneration disorder" "A progressive neurodegenerative condition affecting the cerebral cortex and basal ganglia. The disorder is characterized by varying degrees of cognitive and motor impairment." "" + "cote katsantoni syndrome" "" + "obsolete Hernandez Aguirre-Negrete syndrome" "" "true" + "hair defect with photosensitivity and intellectual disability syndrome" "Syndrome with the association of stubby, coarse, sparse and fragile hair, eyebrows and eyelashes with photosensitivity and nonprogressive intellectual deficit, without a demonstrable metabolic aberration. It has been described in three sisters born to consanguineous parents." "" + "2-methylacetoacetyl CoA thiolase deficiency" "" + "2-hydroxyethyl methacrylate sensitization" "" + "" "true" + "4-hydroxyphenylacetic aciduria" "" + "5-nucleotidase syndrome" "" + "AIDS dysmorphic syndrome" "" + "ALK+ histiocytosis" "" + "congenital absence of septum pellucidum" "The absence of the septum pellucidum is a rare condition that affects the structure of the brain. Specifically, a thin membrane called the septum pellucidum is missing from its normal position in the middle of the brain. When it is missing, symptoms may include learning difficulties, behavioral changes, seizures, and changes in vision. Absence of the septum pellucidum is not typically seen as an isolated finding. Instead, absence of the septum pellucidum is associated with other conditions such as septo-optic dysplasia. Treatment options for the condition vary depending on the underlying disorder. Diagnosis of absence of the septum pellucidum can be made through imaging such as an MRI. Symptoms of absence of the septum pellucidum typically present during childhood, but a diagnosis can also be made before an individual is born (prenatally). If an individual is found to be missing the septum pellucidum, a search for an underlying disorder should be made." "" + "congenital acardia" "" + "acute lymphoblastic leukemia congenital sporadic aniridia" "A disease characterized by acute lymphoblastic leukemia with the presence of congenital sporadic aniridia, the absence of an iris, where neither parent has aniridia." "" + "retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene" "" + "aglossia and situs inversus" "A disease characterized by complete absence of tongue that can also be associated with limb deformities, syndromes and aberrant positioning of the visceral organs." "" + "retinal ciliopathy due to mutation in the RPGR gene" "" + "retinal ciliopathy due to mutation in the rpgrip gene" "" + "agyria pachygyria polymicrogyria" "Cortical malformations characterized by no gyri, broad gyri and/or an excessive number of abnormally small gyri that result in an irregular cortical surface with lumpy aspect." "" + "agyria-pachygyria type 1" "A disorder of neuronal migration that is characterized by abnormal cortex morphology, with pathological features including a variably decreased brain size, enlarged ventricles representing a stage of fetal development rather than hydrocephalus, heterotopia of the inferior olivary bodies that lie between the corpus pontobulbare and their normal location, aberrant or absent corticospinal tract, heterotopia of cerebellar granules and abnormally shaped dentate nuclei." "" + "Ahumada Del Castillo syndrome" "A syndrome characterized by galactorrhea and amenorrhea with symptoms of estrogenic insufficiency and absence of urinary gonadotropins." "" + "retinal ciliopathy due to mutation in usher gene" "" + "retinal ciliopathy due to mutation in nephronophthisis gene" "" + "obsolete aksu von stockhausen syndrome" "" "true" + "retinal ciliopathy due to mutation in bardet-biedl gene" "" + "obsolete albinism immunodeficiency" "" "true" + "Albright-like syndrome" "" + "allain-babin-demarquez syndrome" "" + "alopecia congenita keratosis palmoplantaris" "" + "obsolete alopecia immunodeficiency" "" "true" + "obsolete alpha-2 deficient collagen disease" "" "true" + "alpha-mannosidosis type 1" "" + "alpha-thalassemia-abnormal morphogenesis" "" + "aluminosis" "Aluminosis is characterized as diffuse interstitial fibrosis which is mainly located in the upper and middle lobes of the lung. In advanced stages it is characterized by subpleural bullous emphysema with an increased risk of spontaneous pneumothorax." "" + "persistent fetal circulation syndrome" "A cardiopulmonary disorder characterized by systemic arterial hypoxemia secondary to pulmonary hypertension and extrapulmonary right to left shunting across the foramen ovale and ductus arteriosus." "" + "alves Castelo dos Santos syndrome" "" + "obsolete amelia cleft lip palate hydrocephalus iris coloboma" "" "true" + "Mauriac syndrome" "A complication of poorly controlled type 1 diabetes mellitus in children characterized by linear growth impairment, glycogenic hepatopathy, and Cushingoid features." "" + "amyloidosis bronchopulmonary" "Amyloidosis with tracheobronchial deposits in diffuse plaques that can cause stenosis or parenchymal nodules or masses." "" + "obsolete amyloidosis nodular localized cutaneous" "" "true" + "obsolete amyoplasia mandibulofacial dysostosis" "" "true" + "angiomyomatous hamartoma" "An uncommon benign proliferation of smooth muscle, blood vessels, collagenous stroma, and adipocytes, most commonly affecting inguinal lymph node." "" + "angiosarcoma of the scalp" "Angiosarcoma of the scalp is a rare cancer which most commonly affects the elderly. This condition is characterized by bruise-like lesions that escalate to elevated, nodular, or ulcerated tumors. Extensive local growth is common and metastasis to regional lymph nodes and to the lungs may occur. The cause of angiosarcoma of the scalp is unknown, although several associations have been reported, including lymphedema, prior radiation treatment, and environmental exposures. Treatment may include surgery, radiation and chemotherapy." "" + "ankle defects short stature" "" + "ankyloblepharon filiforme imperforate anus" "" + "annular constricting bands" "A syndrome characterized by congenital constriction bands, often deformity of the nails with distally located bands, and commonly a malformation of the hand." "" + "obsolete anophthalmia cleft lip palate hypothalamic disorder" "" "true" + "anophthalmia cleft palate micrognathia" "A syndrome characterized by bilateral anophthalmos, hypospadias, bifid scrotum, micrognathia, and cleft palate with normal chromosomes." "" + "anophthalmia esophageal atresia cryptorchidism" "A syndrome characterized by bilateral anophthalmia, esophageal atresia, and cryptorchidism. This is an n-of-1 use case where only one patient or family has been described with this disorder." "" + "obsolete anophthalmia megalocornea cardiopathy skeletal anomalies" "" "true" + "obsolete anophthalmia microcephaly hypogonadism" "" "true" + "anotia facial palsy cardiac defect" "A syndrome characterized by anotia (congenital absence of the pinna) with a normal cochlea and vestibular apparatus, with facial paralysis caused by congenital absence of the entire right facial nerve, and congenital heart disease, which may present as atrioventricular septal defects or variations of tetralogy of Fallot." "" + "antigen-peptide-transporter 2 deficiency" "An inborn errors of metabolism disorder caused by homozygosity for mutations in the TAP2 gene. It is characterizeed by nonhealing, chronic, ulcerative granulomatous leg lesions combined with recurrent otitis media and sinopulmonary infections." "" + "obsolete aortic arches defect" "" "true" + "aortic dissection lentiginosis" "A syndrome characterized by arterial dissections, multiple lentigines, and cystic medial necrosis." "" + "childhood aortic valve stenosis" "" + "APO A-i deficiency" "" + "obsolete apolipoprotein C 2i deficiency" "" "true" + "obsolete arthritis short stature deafness" "" "true" + "arthrogryposis IUGR thoracic dystrophy" "A syndrome characterized by severe intrauterine growth retardation, psychomotor delay and recurrent infections, craniofacial dysostosis, a progeroid appearance, arthrogryposis and camptodactylia." "" + "arthrogryposis multiplex congenita CNS calcification" "A syndrome characterized by congenital contractures, scarce facial expressions, central nervous system dysfunction, and early death, as well as extensive deposits of calcium compounds in the nervous system and of skeletal muscle." "" + "arthrogryposis spinal muscular atrophy" "" + "asternia" "Asternia, also known as a complete congenital sternal cleft, is a condition in which a bone called thesternum does not form properly.The sternumusuallyconnects to the ribs to form the ribcage. Individuals with asternia are missing this bone and may appear to have a rut or trench under the skin in the middle of the chest. Most individuals with asternia have no symptoms, though some may have difficulty breathing. Asternia is sometimes associated with other conditions, such as heart problems. The cause of asternia is currently unknown. Treatment consists of surgery to close the gap between the ribs." "" + "atlanto-axial fusion" "" + "obsolete atrial septal defect coronary sinus" "" "true" + "atrophoderma of Pierini and Pasini" "Atrophoderma of Pierini and Pasini is thought to possibly represent a late stage of morphea a type of localized scleroderma. Signs and symptoms ofatrophoderma of Pierini and Pasini include multiple oval, darkened (hyperpigmented) plaques in which tissue under the skin breaks downso that there is a depression (dent) within the skin. Some findings suggest that atrophoderma of Pierini and Pasini may be associated with B burgdorferi, a bacteria that causesLyme disease, in some cases." "" + "autoimmune inner ear disease" "A syndrome characterized by rapidly progressive sensorineural hearing loss (SNHL), that is often bilateral, and is potentially reversible." "" + "BK-virus nephropathy" "" + "autonomic facial cephalgia" "" + "leukoplakia of gingiva" "A clinical term that indicates the presence of a white patch on the surface of the gum which cannot be characterized as any other disease. It may be a precancerous condition and in most cases histologic examination reveals keratosis." "" + "Barnicoat Baraitser syndrome" "" + "obsolete basal cell nevus anodontia abnormal bone mineralization" "" "true" + "Basedow's coma" "A polygenic and multifactorial disease that develops as a result of a complex interplay between genetic susceptibility and environmental and endogenous factors, which leads to the loss of immune tolerance to thyroid antigens and in particular to the TSH receptor." "" + "Bazopoulou Kyrkanidou syndrome" "" + "BD syndrome" "" + "Beardwell syndrome" "" + "oculo-cerebral dysplasia" "" + "behrens baumann dust syndrome" "" + "benign angiitis of the central nervous system" "A central nervous system vasculitis that has a benign course, with acute onset of neurologic symptoms, usually in the form of severe headache and/or a focal neurologic event." "" + "benign metastasizing leiomyoma" "A rare disorder that affects women with a history of uterine leiomyoma, which is found to metastasise within extrauterine sites.The disease develops as a proliferation of multiple nodules composed of smooth muscle cells.The most frequent site of metastasis is the lungs, although other areas may also be affected as well, including some atypical locations, e.g. the heart or spinal cord." "" + "obsolete BEST1 retinopathy" "" "true" + "bhaskar jagannathan syndrome" "" + "bidirectional tachycardia" "" + "bilateral renal agenesis dominant type" "" + "biliary atresia intrahepatic non syndromic form" "" + "biliary atresia intrahepatic syndromic form" "" + "biliary hypoplasia" "A syndromic disease characterised by a small ductal system and reduction in the number of interlobular bile ducts." "" + "bilirubin induced brain injury in the newborn" "" + "Billet bear syndrome" "A congenital malformation syndrome characterized by partial duplication of the left lower limb and aplasia of the ipsilateral kidney, plus other congenital malformations." "" + "childhood bladder carcinoma" "A rare carcinoma of the bladder that occurs during childhood." "" + "blepharo naso facial syndrome van Maldergem type" "A syndrome characterized by expressionless facies, thickened facial skin, telecanthus with blepharophimosis, lacrimal duct anomalies, unusual nasal shape, and mild excess interdigital webbing." "" + "bone dysplasia Moore type" "" + "bone dysplasia corpus callosum agenesis" "" + "brachydactyly absence of distal phalanges" "" + "brachydactyly anonychia" "" + "brachydactyly small stature face anomalies" "" + "brachydactyly tibial hypoplasia" "" + "obsolete brachymetapody anodontia hypotrichosis albinoidism" "" "true" + "extraovarian Brenner tumor of the vagina" "A Brenner tumor that involves the vagina." "" + "brittle bone syndrome lethal type" "" + "bronchial adenomas/carcinoids childhood" "" + "bronchiectasis oligospermia" "" + "Brunoni syndrome" "" + "Brunsting-Perry syndrome" "" + "bruyn scheltens syndrome" "" + "burn goodship syndrome" "" + "burning mouth syndrome type 3" "" + "CD4 deficiency" "" + "CDG syndrome type 4" "" + "CDK4 linked melanoma" "" + "camptodactyly joint contractures and facial skeletal dysplasia" "" + "camptodactyly vertebral fusion" "" + "candida glabrata infection" "" + "Cantu sanchez-corona Garcia-Cruz syndrome" "" + "childhood carcinoid tumor" "A rare carcinoid tumor that occurs during childhood." "" + "carcinoma of the vocal tract" "A carcinoma that involves the laryngeal vocal fold." "" + "cardiac hydatid cysts with intracavitary expansion" "" + "cardioencephalomyopathy" "" + "cardiofacial syndrome short limbs" "" + "cardiomelic syndrome stratton Koehler type" "" + "cardiomyopathy and deafness due to tRNA lysine gene mutation" "A specific change in the MTTK gene causes a condition characterized by weakened heart muscle (cardiomyopathy) and hearing loss. Affected individuals may also have myopathy and ataxia. This mutation replaces the DNA building block (nucleotide) guanine with the nucleotide adenine at position 8363 (written as G8363A) within the gene. It is unclear how this alteration in the MTTK gene results in cardiomyopathy, hearing loss, and other symptoms." "" + "cardiomyopathy diabetes deafness" "" + "obsolete cardiomyopathy dilated with conduction defect type 1" "" "true" + "obsolete cardiomyopathy dilated with conduction defect type 2" "" "true" + "cardiomyopathy due to anthracyclines" "" + "cardiomyopathy hypogonadism collagenoma syndrome" "" + "cardiomyopathy hypogonadism metabolic anomalies" "" + "cardiomyopathy spherocytosis" "" + "carpo tarsal osteolysis recessive" "" + "cassavism" "" + "autosomal dominant non-nuclear cataract" "" + "cataract skeletal anomalies" "" + "obsolete cataract - glaucoma" "" "true" + "cennamo gangemi syndrome" "" + "cerebellar agenesis" "" + "cerebello-olivary atrophy" "" + "cerebral calcification cerebellar hypoplasia" "" + "cerebral calcifications opalescent teeth phosphaturia" "" + "athetoid cerebral palsy" "A subtype of cerebral palsy characterized by involuntary, purposeless writhing movements which affect the hands, feet, arms, and legs; the face and tongue may be affected as well, leading to involuntary grimacing, drooling, dysarthria and difficulty eating." "" + "" "true" + "cerebral palsy spastic hemiplegic" "" + "cerebral palsy spastic monoplegic" "" + "oculo digital syndrome" "" + "chester porphyria" "Chester porphyria is a unique type of porphyria with the signs and symptoms of acute intermittent porphyria (AIP) and the biochemical defects of both AIP and variegate porphyria (VP). Chester porphyria does not conform to any of the recognized types of acute porphyria. The symptoms associated with Chester porphyria are similar to those observed in other acute porphyrias. Treatment is symptomatic." "" + "Chiari malformation type 3" "" + "Chiari malformation type 4" "" + "obsolete chondrodysplasia lethal recessive" "" "true" + "" "true" + "chondrodysplasia punctata with steroid sulfatase deficiency" "" + "obsolete chorea minor" "" "true" + "choreoacanthocytosis amyotrophic" "" + "chorioretinopathy dominant form microcephaly" "" + "choroid plexus cyst" "" + "choroideremia hypopituitarism" "This is an X-linked recessive retinal degenerative disease that leads to degeneration of the choriocapillaris, the retinal pigment epithelium, and the photoreceptor of the eye. Hypopituitarism is the decreased (hypo) secretion of one or more of the eight hormones normally produced by the pituitary gland at the base of the brain." "" + "Christian demyer franken syndrome" "" + "Christian Johnson angenieta syndrome" "" + "occupational asthma" "Asthma attacks caused, triggered, or exacerbated by OCCUPATIONAL EXPOSURE." "" + "mixed dust pneumoconiosis" "" + "chromosome 13p duplication" "" + "non-neoplastic nevus" "A abnormal, congenital formation or mark on the skin or neighboring mucosa that does not show neoplastic growth." "" + "chromosome 18 mosaic monosomy" "" + "chromosome 22, monosome mosaic" "" + "chromosome 3 duplication syndrome" "" + "chronic demyelinizing neuropathy with IgM monoclonal" "" + "chronic polyradiculoneuritis" "" + "ciliary dyskinesia-bronchiectasis" "" + "circumscribed cutaneous aplasia of the vertex" "" + "circumscribed disseminated keratosis Jadassohn lew type" "" + "classic Kaposi sarcoma" "A vascular sarcoma that commonly occurs in the lower extremities. It occurs predominantly in elderly male patients of southern European ancestry. It is characterized by the presence of purple, red-blue, or dark brown macular lesions, plaques and nodules. This disease is usually slow growing, although it can spread to the lungs and the gastrointestinal tract. If necessary, cutaneous lesions can be treated with radiation." "" + "cleft lip and palate malrotation cardiopathy" "" + "cleft lip and/or palate with mucous cysts of lower" "" + "cleft lip palate dysmorphism kumar type" "" + "cleft lip palate intellectual disability corneal opacity" "" + "cleft lip palate oligodontia syndactyly pili torti" "" + "cleft lip palate pituitary deficiency" "" + "cleft lip palate-tetraphocomelia" "" + "cleft lower lip cleft lateral canthi chorioretinal" "" + "cleft palate cardiac defect ectrodactyly" "" + "cleft palate colobomata radial synostosis deafness" "" + "cleft palate heart disease polydactyly absent tibia" "" + "cleft tongue" "" + "coarse face hypotonia constipation" "" + "coccygodynia" "Coccygodynia is a rare condition in that causes pain in and around the coccyx (tailbone). Although various causes have been described for the condition, the more commoncausesare direct falls and injury." "" + "chromosome 8 deletion" "A structural cytogenetic abnormality characterized by partial or complete loss of chromosome 8." "" + "deficiency of coenzyme q cytochrome c reductase" "" + "Cohen lockood wyborney syndrome" "" + "cold urticaria" "Cold urticaria is a condition that affects the skin. Signs and symptoms generally include reddish, itchy welts (hives) and/or swelling when skin is exposed to the cold (i.e. cold weather or swimming in cold water). This rash is usually apparent within 2-5 minutes after exposure and can last for 1-2 hours. The exact cause of cold urticaria is poorly understood in most cases. Rarely, it may be associated with an underlying blood condition or infectious disease. Treatment generally consists of patient education, avoiding exposures that may trigger a reaction, and/or medications." "" + "Collins-Sakati syndrome" "" + "coloboma porencephaly hydronephrosis" "" + "colobomata unilobar lung heart defect" "" + "colonic malakoplakia" "" + "" "true" + "Colver Steer Godman syndrome" "" + "Combarros Calleja Leno syndrome" "" + "complement receptor deficiency" "A disorder with basis in disruption of a complement receptor." "" + "congenital absence of the sternocleidomastoid muscle" "" + "congenital amputation" "" + "congenital aneurysms of the great vessels" "" + "congenital arteriovenous shunt" "" + "congenital articular rigidity" "" + "congenital benign spinal muscular atrophy dominant" "" + "congenital cardiovascular shunt" "" + "congenital contractures" "" + "congenital craniosynostosis maternal hyperthyroiditis" "" + "congenital cystic eye" "" + "congenital cystic eye multiple ocular and intracranial anomalies" "" + "congenital heart disease ptosis hypodontia craniostosis" "" + "congenital heart disease radio ulnar synostosis intellectual disability" "" + "congenital human immunodeficiency virus" "" + "congenital hypotrichosis milia" "" + "congenital mumps" "" + "congenital nonhemolytic jaundice" "" + "congenital stenosis of cervical medullary canal" "" + "obsolete congenital sucrose isomaltose malabsorption" "" "true" + "Dennis-Fairhurst-Moore syndrome" "A severe form of Hallermann-Streiff syndrome, observed in one family. This is an n-of-1 use case where only one patient or family has been described with this disorder." "" + "congenital unilateral pulmonary hypoplasia" "" + "congenital vagal hyperreflexivity" "" + "" "true" + "obsolete continuous muscle fiber activity hereditary" "" "true" + "continuous spike-wave during slow sleep syndrome" "" + "cor biloculare" "A congenital anatomic anomaly in which the heart has only two chambers." "" + "cormier rustin munnich syndrome" "" + "corneal crystals myopathy neuropathy" "" + "corneal dystrophy ichthyosis microcephaly intellectual disability" "" + "corneal dystrophy pigmentary anomaly malabsorption" "" + "coronary arteries congenital malformation" "" + "corpus callosum agenesis of blepharophimosis robin type" "" + "corpus callosum dysgenesis X-linked recessive" "" + "corpus callosum dysgenesis cleft spasm" "" + "corpus callosum dysgenesis hypopituitarism" "" + "cortada Koussef Matsumoto syndrome" "" + "Cortes Lacassie syndrome" "" + "corticobasal degeneration" "" + "craniofacial and skeletal defects" "" + "craniofacial dysostosis arthrogryposis progeroid appearence" "" + "" "true" + "craniofrontonasal syndrome Teebi type" "" + "craniostenosis cataract" "" + "craniostenosis with congenital heart disease intellectual disability" "" + "craniosynostosis Fontaine type" "" + "craniosynostosis Maroteaux Fonfria type" "" + "craniosynostosis alopecia brain defect" "" + "craniosynostosis arthrogryposis cleft palate" "" + "craniosynostosis autosomal dominant" "" + "craniosynostosis cleft lip palate arthrogryposis" "" + "craniosynostosis contractures cleft" "" + "craniosynostosis exostoses nevus epibulbar dermoid" "" + "craniosynostosis intellectual disability heart defects" "" + "crawfurd syndrome" "" + "athyreotic congenital hypothyroidism" "Congenital hypothyroidism in which fetal deficiency was severe because of complete absence (athyreosis) of the gland. Physical features may include a larger anterior fontanel, persistence of a posterior fontanel, an umbilical hernia, and a large tongue (macroglossia)" "" + "Crohn disease of the esophagus" "An Crohn disease involving a pathogenic inflammatory response in the esophagus." "" + "cutaneous sclerosis" "" + "cutis gyratum acanthosis nigricans craniosynostosis" "" + "cutis laxa osteoporosis" "" + "cutis verticis gyrata mental deficiency" "" + "cutler bass Romshe syndrome" "" + "cystic hygroma lethal cleft palate" "" + "obsolete cytokine deficiency" "A disease that has its basis in the disruption of cytokine activity." "" "true" + "cytokine receptor deficiency" "A disease that has its basis in the disruption of cytokine receptor activity." "" + "obsolete short stature-microcephaly-heart defect syndrome" "" "true" + "daentl towsend Siegel syndrome" "" + "dandy-walker malformation with nasopharyngeal teratoma and diaphragmatic hernia" "" + "Davenport-Donlan syndrome" "An n-of-1 disease characterized by hearing loss, almost white hair, a psoriasiform rash with hyperkaratotic papillomata, muscle contractures, and depressed granulocyte and monocyte chemotaxis, dominant hearing loss, white hair, contractures, hyperkeratotic papillomata, and muscle contractures, and depressed granulocyte and monocyte chemotaxis. This is an n-of-1 use case where only one patient or family has been described with this disorder." "" + "Davis Lafer syndrome" "" + "de Hauwere Leroy adriaenssens syndrome" "" + "deafness conductive stapedial ear malformation facial palsy" "" + "deafness goiter stippled epiphyses" "" + "obsolete deafness hyperuricemia neurologic ataxia" "" "true" + "obsolete deafness hyperuricemia neurologic ataxia" "" "true" + "deafness hypospadias metacarpal and metatarsal syndrome" "" + "deafness mesenteric diverticula of small bowel neuropathy" "" + "deafness peripheral neuropathy arterial disease" "" + "deafness progressive cataract autosomal dominant" "" + "Deal Barratt Dillon syndrome" "" + "defective apolipoprotein b-100" "" + "delta-1-pyrroline-5-carboxylate dehydrogenase deficiency" "A disease that has its basis in the disruption of 1-pyrroline-5-carboxylate dehydrogenase activity." "" + "dermatocardioskeletal syndrome boronne type" "" + "desmoplastic infantile astrocytoma" "A WHO grade I large cystic tumor that occurs almost exclusively in infants, with a prominent desmoplastic stroma having a neuroepithelial population consisting mainly of neoplastic astrocytes. It involves the superficial cerebral cortex and leptomeninges, and often attaches to the dura. Although clinically it presents as large tumor, it generally has a good prognosis following surgical resection. (Adapted from WHO)" "" + "desmoplastic infantile ganglioglioma" "A WHO grade I large cystic tumor that occurs almost exclusively in infants, with a prominent desmoplastic stroma having a neuroepithelial population of neoplastic astrocytes together with a variable neuronal component. It involves the superficial cerebral cortex and leptomeninges, and often attaches to the dura. Although clinically it presents as a large tumor, it generally has a good prognosis following surgical resection. (Adapted from WHO)" "" + "dextrocardia with situs inversus" "Dextrocardia with situs inversus is a condition that is characterized by abnormal positioning of the heart and other internal organs. In people affected by dextrocardia, the tip of the heart points towards the right side of the chest instead of the left side. Situs inversus refers to the mirror-image reversal of the organs in the chest and abdominal cavity. Some affected people have no obvious signs or symptoms. However, a small percentage of people also have congenital heart defects, usually transposition of the great vessels. Dextrocardia with situs inversus can also be associated with primary ciliary dyskinesia (also known as Kartagener syndrome). Treatment typically depends on the heart or physical problems the person may have in addition to dextrocardia with situs inversus." "" + "diabetes persistent mullerian ducts" "" + "diabetic mastopathy" "Diabetic mastopathy are noncancerous lesions in the breast most commonly diagnosed in premenopausal women with type 1 diabetes. The cause of this condition is unknown. Symptoms may include hard, irregular, easily movable, discrete, painless breast mass(es)." "" + "diaphragmatic agenesis radial aplasia omphalocele" "" + "diaphragmatic hernia exomphalos corpus callosum agenesis" "" + "diaphragmatic hernia upper limb defects" "" + "die Smulders droog van dijk syndrome" "" + "die Smulders Vles Fryns syndrome" "" + "Dieterich disease" "" + "diffuse cavernous hemangioma of the rectum" "" + "diffuse idiopathic pulmonary neuroendocrine cell hyperplasia" "A very rare condition characterized by generalized proliferation of pulmonary neuroendocrine cells. It manifests as progressive cough and dyspnea. It is considered a precursor for pulmonary carcinoid tumor." "" + "diomedi bernardi placidi syndrome" "" + "diphallus rachischisis imperforate anus" "" + "diploid-triploid mosaicism" "Diploid-triploid mosaicism is a chromosome disorder. Individuals with diploid-triploid syndrome have some cells with three copies of each chromosome for a total of 69 chromosomes (called triploid cells) and some cells with the usual 2 copies of each chromosome for a total of 46 chromosomes (called diploid cells). Having two or more different cell types is called mosaicism. Diploid-triploid mosaicism can be associated withtruncal obesity, body/facial asymmetry, weak muscle tone (hypotonia), delays in growth,mild differences infacial features, fusion or webbing between some of the fingers and/or toes (syndactyly) and irregularities in the skin pigmentation. Intellectual disabilities may be present but are highly variable from person to person ranging from mild to more severe. The chromosome disorder is usually not present in the blood; a skin biopsy, or analyzing cells in the urine is needed to detect the triploid cells." "" + "dipsogenic diabetes insipidus" "Diabetes insipidus caused by excessive intake of water due to psychological factors or damage to the thirst-regulating mechanism." "" + "primary polydipsia" "A form of polydipsia characterised by excessive fluid intake in the absence of physiological stimuli to drink." "" + "distal arthrogryposis Moore weaver type" "" + "distichiasis heart congenital anomalies" "" + "dobrow syndrome" "" + "double discordia" "" + "double fingernail of fifth finger" "" + "double uterus-hemivagina-renal agenesis" "" + "doxorubicin induced cardiomyopathy" "" + "Drachtman Weinblatt Sitarz syndrome" "A rare genetic disorder, characterized by under-development of bone marrow and neurological disorders such as weakness on one side of the body, agenesis of corpus callosum and hydrocephalus." "" + "obsolete drachtman weinblatt sitarz syndrome" "" "true" + "Wilson-Mikity syndrome" "" + "Duker-Weiss-Siber syndrome" "" + "duodenal atresia tetralogy of fallot" "" + "duplication of leg mirror foot" "" + "duplication of the thumb unilateral biphalangeal" "" + "dupont sellier chochillon syndrome" "" + "dwarfism bluish sclerae" "" + "dwarfism deafness retinitis pigmentosa" "" + "dwarfism lethal type advanced bone age" "" + "dwarfism thin bones multiple fractures" "" + "neonatal dacryocystitis" "Inflammation of the lacrimal sac in a newborn due to blocked drainage of tears or infection." "" + "dysmorphism cleft palate loose skin" "" + "obsolete dysostosis acral with facial and genital abnormalities" "" "true" + "" "true" + "Eagle syndrome" "Eagle syndrome is characterized by recurrent pain in the middle part of the throat (oropharynx) and face. 'Classic Eagle syndrome' is typically seen in patients after throat trauma or tonsillectomy. Symptoms include dull and persistent throat pain that may radiate to the ear and worsen with rotation of the head. Other symptoms may include difficulty swallowing, feeling that there is something stuck in the throat, tinnitus, and neck or facial pain. A second form of Eagle syndrome unrelated to tonsillectomy causes compression of the vessel that carries blood to the brain, neck, and face (carotid artery). This form can cause headache. Eagle syndrome is due to a calcified stylohyoid ligament or an elongated styloid process. The styloid process is a pointed part of the temporal bone that serves as an anchor point for several muscles associated with the tongue and larynx. The mainstay treatment for Eagle syndrome is surgery to shorten the styloid process (styloidectomy). Medical management may include the use of pain and anti-inflammatory medications, antidepressants, and/or steroids. The overall success rate for treatment (medical or surgical) is about 80%." "" + "obsolete elongated styloid process syndrome" "" "true" + "eccentrochondrodysplasia" "" + "eccrine mucinous carcinoma" "" + "ectodermal dysplasia Bartalos type" "" + "ectodermal dysplasia Berlin type" "" + "ectodermal dysplasia margarita type" "" + "ectodermal dysplasia alopecia preaxial polydactyly" "" + "ectodermal dysplasia arthrogryposis diabetes mellitus" "" + "ectodermal dysplasia blindness" "" + "ectodermal dysplasia neurosensory deafness" "" + "ectrodactyly cardiopathy dysmorphism" "" + "obsolete ectrodactyly polydactyly" "" "true" + "klumpke's paralysis" "Klumpke paralysis is a type of brachial palsy in newborns. Signs and symptoms include weakness and loss of movement of the arm and hand. Some babies experience drooping of the eyelid on the opposite side of the face as well. This symptom may also be referred to as Horner syndrome. Klumpke paralysis is caused by an injury to the nerves of the brachial plexus which may result from a difficult delivery. This injury can cause a stretching (neuropraxia), tearing (called avulsion when the tear is at the spine, and rupture when it is not), or scarring (neuroma) of the brachial plexus nerves. Most infants with Klumpke paralysis have the more mild form of injury (neuropraxia) and often recover within 6 months." "" + "Elliott ludman Teebi syndrome" "" + "enamel hypoplasia cataract hydrocephaly" "" + "encephalocele anencephaly" "" + "obsolete encephalopathy recurrent of childhood" "" "true" + "enchondromatosis dwarfism deafness" "" + "endemic Kaposi sarcoma" "" + "engelhard yatziv syndrome" "" + "enlarged vestibular aqueduct syndrome" "" + "" "true" + "enterovirus antenatal infection" "" + "obsolete envenomization by Bothrops lanceolatus" "" "true" + "eosinophilic cryptitis" "Eosinophilic cystitis (EC) is a rare inflammatory bladder condition caused by the build up of eosinophils in the bladder. The exact cause of this condition is not known. However, EC has been found in those with allergies and asthma, and in those with a history of bladder trauma or infection, open bladder surgery, or surgery for a bladder tumor. EC has also been found in those who take certain medications." "" + "eosinophilic pustular folliculitis" "Eosinophilic pustular folliculitis (EPF) is a skin disorder characterized by recurring itchy, red or skin-colored bumps and pustules (bumps containing pus). The condition is named after the fact that skin biopsies of this disorder find eosinophils (a type of immune cell) around hair follicles. The papules mostly appear on the face, scalp, neck and trunk and may persist for weeks or months. EPF affects males more than females.There are several variants of EPF includingclassic eosinophilic pustular folliculitis (mainly occurring in adults in Japan); HIV-associated EPF, also referred to as immunosuppression-associated EPF; and infantile EPF (with onset from birth or within the first year of life). Whether these are distinct disorders rather than variants of one disorder is controversial, partly because the underlying cause of EFP is not known.Several treatments have been described with variable results, including various oral or topical medications and phototherapy. In patients with HIV-associated disease, antiretroviral therapy tends to greatly diminish symptoms or even eliminate the condition." "" + "epidermal nevus vitamin D resistant rickets" "" + "epimetaphyseal dysplasia cataract" "" + "epiphyseal dysplasia dysmorphism camptodactyly" "" + "erythroplakia" "A clinical term that refers to the presence of a red flat and well defined lesion on the oral mucosa that is not caused by trauma, vascular, or inflammatory processes. It is a precancerous condition and is seen more commonly in middle aged or older males. It is associated with tobacco and alcohol consumption. Microscopic examination reveals severe epithelial dysplasia, carcinoma in situ, or invasive squamous cell carcinoma." "" + "esophageal atresia coloboma talipes" "" + "exertional headache" "" + "exogenous ochronosis" "Exogenous ochronosis refers tothe bluish-black discoloration of certain tissues, such as the ear cartilage, the ocular (eye) tissue, and other body locations when it is due toexposure to various substances.It has been reported most commonly with topical application of hydroquinones to the skin. The discolorationmay becaused byan effect ontyrosinase(an enzyme located in melanocytes, which are skincells that produce pigment), or by inhibiting homogentisic acid oxidase, resulting in the accumulation and deposition of homogentisic acid (HGA) in cartilage. The discoloration is often permanent, but when exogenous ochronosis is caused by topical hydroquinones, carbon dioxide lasers and dermabrasion have been reported to be helpful. Exogenous ochronosis is different from hereditary ochronosis, which is an inherited condition that occurs with alkaptonuria." "" + "obsolete exostoses anetodermia brachydactyly type E" "" "true" + "extrasystoles short stature hyperpigmentation microcephaly" "" + "FRAXD syndrome" "" + "facial clefting corpus callosum agenesis" "" + "facio digito genital syndrome recessive form" "" + "facio skeletal genital syndrome rippberger type" "" + "Fairbank disease" "" + "familial capillaro-venous leptomeningeal angiomatosis" "" + "familial myelofibrosis" "" + "familial partial paralysis" "" + "familial pulmonary arterial hypertension leucopenia and atrial septal defect" "" + "Fara Chlupackova syndrome" "" + "Faye-Petersen-Ward-Carey syndrome" "" + "febrile ulceronecrotic mucha-habermann disease" "Febrile ulceronecrotic Mucha-Habermann disease (FUMHD) is a rare and severe form of pityriasis lichenoides et varioliformis acuta (PLEVA). PLEVA is characterized by skin lesions that ulcerate, breakdown, form open sores, then form a red-brown crust. FUMHD often begins as PLEVA, but then rapidly and suddenly progresses to large, destructive ulcers. There may be fever and extensive, painful loss of skin tissue as well as secondary infection of the ulcers. Diagnosis of FUMHD is confirmed by biopsy of skin lesions. FUMHD occurs more frequently in children, peaking at age 5 to 10. Males tend to be affected more often than females. While some cases of FUMHD have resolved without therapy, others have resulted in death. Early diagnosis and prompt treatment may help to reduce morbidity and death." "" + "acute lichenoid pityriasis" "" + "feigenbaum Bergeron syndrome" "" + "Feingold trainer syndrome" "" + "fenton Wilkinson Toselano syndrome" "" + "obsolete antihypertensive drugs antenatal exposure syndrome" "" "true" + "fetal brain disruption sequence" "" + "fetal enterovirus syndrome" "" + "fetal parainfluenza virus type 3 syndrome" "A syndrome caused by HPIV-3." "" + "parainfluenza virus type 3 infectious disease" "Parainfluenza virus type 3 is one of a group of common viruses known as human parainfluenza viruses (HPIV) that cause a variety of respiratory illnesses. Symptoms usually develop between 2 and 7 days from the time of exposure and typically resolve in 7-10 days. Symptoms may include fever, runny nose, and cough. HPIV-3 can also cause bronchiolitis, bronchitis, and pneumonia. Infants and young children are particularly susceptible to HPIV-3 infections, though older adults and those with a weakened immune system are also at risk for complications. HPIVs are usually spread from an infected person to others through coughing, sneezing, and/or touching. There is currently no vaccine to protect against parainfluenza virus infections. Most HPIV infections resolve on their own and do not require special treatment, though medical intervention may be necessary for severe breathing problems. Most adults have antibodies against parainfluenza but can get repeat infections." "" + "fetal phenothiazine syndrome" "" + "fibrocartilaginous embolism" "Fibrocartilaginous embolism (FCE) is a rare type of embolism (sudden blocking of an artery) that occurs in the spinal cord. FCE occurs when materials that are usually found within the vertebral disc of the spine enter into the nearby vascular system (veins and arteries) and block one of the spinal cord vessels. The signs and symptoms of FCE often develop after a minor or even unnoticed btriggering eventb such as lifting, straining, or falling. Symptoms of FCE may include neck and/or back pain, progressive muscle weakness, and paralysis.The exact underlying cause of FCE is poorly understood. Most cases occur sporadically in people with no family history of the disease. Diagnosis is based on imaging of the spinal cord and ruling out other causes of a blockage of the vascular system within the spinal cord. Treatment is generally focused on preventing possible complications and improving quality of life with medications and physical therapy." "" + "tuberculous ascites" "" + "fibromatosis multiple non ossifying" "" + "fibula aplasia complex brachydactyly" "" + "obsolete fibular aplasia" "" "true" + "fibular hypoplasia scapulo pelvic dysplasia absent" "" + "Fitz-Hugh-Curtis syndrome" "Fitz-Hugh-Curtis syndrome (FHCS) is a condition in which a woman has swelling of the tissue covering the liver as a result of having pelvic inflammatory disease (PID). Symptoms most often include pain in the upper right abdomen just below the ribs, fever, nausea, or vomiting. The symptoms of pelvic inflammatory disease - pain in the lower abdomen and vaginal discharge -are oftenpresent as well. FHCS is usually caused by an infection of chlamydia or gonorrhea that leads to PID; it is not known why PIDprogresses toFHCS in some women. Fitz-Hugh-Curtis syndrome is treatedwith antibiotics." "" + "viral myocarditis" "Myocarditis that is caused by an infection with a viral agent." "" + "viral pericarditis" "Pericarditis that is caused by an infection with a viral agent." "" + "florid cystic endosalpingiosis of the uterus" "" + "focal alopecia congenital megalencephaly" "" + "focal or multifocal malformations in neuronal migration" "" + "foix chavany Marie syndrome" "Foix-Chavany-Marie syndrome (FCMS) is a cortico-subcortical suprabulbar or pseudobulbar palsy of the lower cranial nerves, characterized by severe dysarthria and dysphagia associated with bilateral central facio-pharyngo-glosso-masticatory paralysis, with prominent automatic-voluntary dissociation in which involuntary movements of the affected muscles are preserved." "" + "obsolete follicular lymphoreticuloma" "" "true" + "Fontaine farriaux blanckaert syndrome" "" + "formaldehyde poisoning" "" + "fragile X syndrome type 1" "" + "fragile X syndrome type 2" "" + "fragile X syndrome type 3" "" + "Franceschini Vardeu Guala syndrome" "" + "Fraser Jequier Chen syndrome" "" + "Freiberg disease" "Freiberg's disease is rare condition that primarily affects the second or third metatarsal (the long bones of the foot). Although people of all ages can be affected by this condition, Freiberg's disease is most commonly diagnosed during adolescence through the second decade of life. Common signs and symptoms include pain and stiffness in the front of the foot, which often leads to a limp. Affected people may also experience swelling, limited range of motion, and tenderness of the affected foot. Symptoms are generally triggered by weight-bearing activities, including walking. The exact underlying cause of Freiberg's disease is currently unknown. Treatment depends on many factors, including the severity of condition; the signs and symptoms present; and the age of the patient." "" + "obsolete Freire-Maia odontotrichomelic syndrome" "" "true" + "Friedman Goodman syndrome" "" + "frints de Smet Fabry Fryns syndrome" "" + "frontonasal malformation cloacal exstrophy" "" + "frontonasal dysplasia Klippel feil syndrome" "" + "frontonasal dysplasia phocomelic upper limbs" "" + "Fryns Fabry Remans syndrome" "" + "Fryns Smeets Thiry syndrome" "" + "Fuchs atrophia gyrata chorioideae et retinae" "" + "Fukuda-Miyanomae-Nakata syndrome" "" + "Fuqua Berkovitz syndrome" "" + "galactorrhoea-hyperprolactinaemia" "" + "" "true" + "Garret-Tripp syndrome" "" + "gas bloat syndrome" "" + "obsolete gastro-enteropancreatic neuroendocrine tumor" "" "true" + "Gaucher ichthyosis restrictive dermopathy" "" + "gershinibaruch Leibo syndrome" "" + "gestational diabetes insipidus" "A form of diabetes insipidus that manifests during pregnancy (or in some cases, after pregnancy). It is characterized by theappearance of a polyuric-polydipsic syndrome that resultsin fluid intake ranging from 3 to 20 L/day. It is also charac-terized by excretion of abnormally high volumes of dilutedurine. This polyuria is insipid, i.e., the urine concentrationof dissolved substances is very low." "" + "Ghose-Sachdev-Kumar syndrome" "" + "giant cell myocarditis" "An often fatal inflammatory disorder that affects the myocardium. Morphologically, it is characterized by the presence of an inflammatory infiltrate in the myocardial tissue that includes multinucleated giant cells. It is often associated with the presence of an autoimmune disorder. Patients present with arrhythmias and/or heart failure. Heart transplantation is the only treatment option available." "" + "giant congenital nevus" "A rare melanocytic lesion occurring at birth, comprising at least 5% of the body surface area. It usually presents as a dark brown to black hairy lesion. Morphologically, it is characterized by the presence of a compound or intradermal nevus. There is an increased risk of malignant transformation to melanoma, rhabdomyosarcoma, and poorly differentiated malignant tumors." "" + "giant mammary hamartoma" "" + "gigantism advanced bone age hoarse cry" "" + "glass-chapman-hockley syndrome" "The Glass-Chapman-Hockley syndrome is a very rare disease. To date, the syndrome has only been reported in one family with five members affected in three generations. The first patients were two brothers that had an abnormally-shaped head due to coronal craniosynostosis. Their mother, maternal aunt, and maternal grandmother were also found to have the syndrome. The signs and symptoms varied from person to person; however, the signs and symptoms included coronal craniosynostosis, small middle part of the face (midfacial hypoplasia), and short fingers (brachydactyly).The inheritance is thought to be autosomal dominant. No genes have been identified for this syndrome. Treatment included surgery to correct the craniosynostosis. No issues with development and normal intelligence were reported. This is an n-of-1 use case where only one patient or family has been described with this disorder." "" + "linear porokeratosis" "Linear porokeratosis is a rare skin condition characterized by streaks of reddish-brown patches surrounded by a ridge-like border.The patches usually develop in infants or young children, but they sometimes develop in adults." "" + "polyarticular juvenile rheumatoid arthritis" "" + "global disaccharide intolerance" "" + "glossopalatine ankylosis micrognathia ear anomalies" "" + "glyceraldehyde-3-phosphate dehydrogenase deficiency" "" + "goldstein hutt syndrome" "" + "goniodysgenesis intellectual disability short stature" "" + "pigmented dermatofibrosarcoma protuberans" "A morphologic variant of dermatofibrosarcoma protuberans characterized by the presence of melanin-pigmented dendritic cells." "" + "Graham-Boyle-Troxell syndrome" "Cystic hamartoma of lung and kidney is a rare developmental malformation reported in 3 patients characterized by the presence of benign hamartomatous cysts in kidney and lung, clinically presenting as abdominal mass. Others associated features include hyperplastic nephromegaly, medullary dysplasia and mesoblastic nephroma. There have been no further descriptions in the literature since 1987." "" + "granulomatous hypophysitis" "Granulomatous hypophysitis is rare pathology that mimics pituitary adenoma." "" + "graphite pneumoconiosis" "" + "green sandford davison syndrome" "" + "grix Blankenship Peterson syndrome" "" + "guttate psoriasis" "Guttate psoriasis is a skin condition in which small, red, and scaly teardrop-shaped spots appear on the arms, legs, and middle of the body.It is a relatively uncommon form of psoriasis. The condition often develops very suddenly, and is usually triggered by an infection (e.g., strep throat, bacteria infection, upper respiratory infections or other viral infections). Other triggers include injury to the skin, including cuts, burns, and insect bites, certain malarial and heart medications, stress, sunburn, and excessive alcohol consumption. Treatment depends on the severity of the symptoms, ranging from at-home over the counter remedies to medicines that suppress the body's immunesystem to sunlight and phototherapy." "" + "obsolete Hamanishi-Ueba-Tsuji syndrome" "" "true" + "heavy metal poisoning" "Heavy metal poisoning refers to when excessive exposure to a heavy metal affects the normal function of the body. Examples of heavy metals that can cause toxicity include lead, mercury, arsenic, cadmium, and chromium. Exposure may occur through the diet, from medications, from the environment, or in the course of work or play. Heavy metals can enter the body through the skin, or by inhalation or ingestion. Toxicity can result from sudden, severe exposure, or from chronic exposure over time. Symptoms can vary depending on the metal involved, the amount absorbed, and the age of the person exposed. For example, young children are more susceptible to the effects of lead exposure because they absorb more compared with adults and their brains are still developing. Nausea, vomiting, diarrhea, and abdominal pain are common symptoms of acute metal ingestion. Chronic exposure may cause various symptoms resulting from damage to body organs, and may increase the risk of cancer. Treatment depends on the circumstances of the exposure." "" + "obsolete hemiplegic migraine" "" "true" + "Ho-Kaufman-McAlister syndrome" "Cleft palate, micrognathia, Wormian bones, congenital heart disease, dislocated hips, absent tibiae, bowed fibulae, preaxial polydactyly of the feet" "" + "pityriasis rotunda" "Pityriasis rotunda is a rare skindisease characterized by round, scaly, pigmented patches that mainly occur on the trunk, arms and legs. There are two types of pityriasis rotunda." "" + "congenital candidiasis" "A fungal infection by any of the Candida species that is present at birth." "" + "chondrodysplasia situs inversus imperforate anus polydactyly" "" + "infectious myositis" "An infectious process affecting the skeletal muscles. It can be caused by viruses (including HIV), bacteria, fungi, and parasites. Symptoms include muscle weakness and muscle pain." "" + "Jaffer-Beighton syndrome" "" + "Jeune syndrome situs inversus" "" + "Judge Misch wright syndrome" "" + "KSHV inflammatory cytokine syndrome" "A syndrome caused by Kaposi sarcoma-associated herpesvirus (KSHV) infection. It manifests with fever, weight loss, and fluid retention in the legs or abdomen. Patients are at risk of developing KSHV-related cancers including Kaposi sarcoma and lymphoma." "" + "kallikrein hypertension" "" + "Kaplowitz-Bodurtha syndrome" "" + "" "true" + "Kashani-Strom-Utley syndrome" "" + "Kasznica-Carlson-Coppedge syndrome" "" + "Katsantoni-Papadakou-Lagoyanni syndrome" "" + "C1q nephropathy" "C1q nephropathy is a kidney disease in which a large amount of protein is lost in the urine. It is one of the many diseases that can cause the nephrotic syndrome." "" + "acquired testicular failure" "Testicular failure, the cause of which is not present at birth." "" + "Kocher-debre-Semelaigne syndrome" "" + "Koone-Rizzo-Elias syndrome" "" + "Kotzot-Richter syndrome" "" + "Kozlowski Brown Hardwick syndrome" "" + "Kozlowski Ouvrier syndrome" "" + "Kozlowski Rafinski Klicharska syndrome" "" + "Kozlowski Warren Fisher syndrome" "" + "Krauss Herman Holmes syndrome" "" + "Krieble Bixler syndrome" "" + "Kuster Majewski Hammerstein syndrome" "" + "Kuster syndrome" "" + "congenital myotonic dystrophy" "Myotonic dystrophy that is present at birth." "" + "laryngeal papillomatosis" "Laryngeal papillomatosis is a form of recurrent respiratory papillomatosis where tumors (papillomas) grow in the larynx (voice box).Symptoms usually begin with hoarseness and/or a change in the voice.Some people mayexperience difficulty breathing (dyspnea) and/or experience other life-threatening complications if the papillomas block the airway. The tumors may vary in size and grow very quickly. They often grow back even when removed.Laryngeal papillomatosisis caused by two types of human papilloma virus (HPV), called HPV 6 and HPV 11." "" + "mesomelic dysplasia" "A form of skeletal dysplasia characterized by shortening of the bones of the middle segments of the limbs (i.e., the radii, ulnae, tibiae and fibulae)." "" + "non-classic congenital adrenal hyperplasia" "A milder form of congenital adrenal hyperplasia characterized by decreased activity of an enzyme in the steroidogenic pathway, typically presenting later in life, that does not require life-long cortisol replacement." "" + "classic congenital adrenal hyperplasia" "A severe form of congenital adrenal hyperplasia characterized by very low or absent activity of an enzyme in the steroidogenic pathway typically presenting early in life, and requiring life-long cortisol replacement." "" + "Laugier-Hunziker syndrome" "" + "Laurence-Prosser-Rocker syndrome" "" + "le Marec-Bracq-Picaud syndrome" "" + "obsolete familial leiomyomatosis" "" "true" + "lentigo maligna melanoma" "Lentigo maligna melanoma (LMM) is a type of skin cancer that usually develops in older, fair-skinnedadults. The average age of diagnosis is65. LMM is thought to be caused by a history of sun exposure to the affected area. Treatment includes surgery to remove as much of the LMM as possible." "" + "levator syndrome" "Levator syndrome is characterized by sporadic pain in the rectum caused by spasm of a muscle near the anus (the levator ani muscle). The muscle spasm causes pain that typically is not related to defecation. The pain usually lasts less than 20 minutes. Pain may be brief and intense or a vague ache high in the rectum. It may occur spontaneously or with sitting and can waken a person from sleep. The pain may feel as if it would be relieved by the passage of gas or a bowel movement. In severe cases, the pain can persist for many hours and can recur frequently. A person may have undergone various unsuccessful rectal operations to relieve these symptoms." "" + "Weber syndrome" "" + "lip and oral cavity carcinoma" "A carcinoma arising in the lip or oral cavity. Most oral cavity carcinomas are squamous cell carcinomas of the tongue, buccal mucosa, or gums. Less frequent morphologic variants include mucoepidermoid carcinoma and adenocarcinoma. Lip carcinomas are usually basal cell or squamous cell carcinomas." "" + "lipodermatosclerosis" "Lipodermatosclerosis refers to changes in the skin of the lower legs. It is a form of panniculitis (inflammation of the layer of fat under the skin). Signs and symptoms include pain, hardening of skin, change in skin color (redness), swelling, and a tapering of the legs above the ankles. The exact underlying cause is unknown; however, it appears to be associated with venous insufficiency and/or obesity. Treatment usually includes compression therapy." "" + "littoral cell angioma of the spleen" "Littoral cell angioma is a rare primary vascular neoplasm of the spleen, composed of littoral cells that line the splenic sinuses of the red pulp. It was thought to be a benign, incidental lesion. However, many recent reports have described it to be a malignant lesion with congenital and immunological associations. The definitive diagnosis can only be made after histology and immunohistochemistry studies." "" + "immunodeficiency 14b, autosomal recessive" "" + "intellectual developmental disorder, autosomal dominant 65" "" + "developmental and epileptic encephalopathy 96" "" + "angioedema, hereditary, 6" "" + "lymphatic malformation 10" "" + "obsolete macrocephaly mesodermal hamartoma spectrum" "" "true" + "spermatogenic failure 54" "" + "Bardet-Biedl syndrome 20" "" + "oculopharyngodistal myopathy 3" "" + "hematohidrosis" "Hematohidrosis is a rare condition characterized by blood oozing from intact skin and mucosa. Signs and symptoms include sweating blood, crying bloody tears, bleeding from the nose, bleeding from the ears, or oozing bloodfrom other skin surfaces. The episodes are usually self-limiting." "" + "tympanic paraganglioma" "A benign or malignant middle ear paraganglioma arising from paraganglia around the tympanum. Signs and symptoms include a mass behind the tympanum, tinnitus, and conductive hearing loss." "" + "maple syrup urine disease type 1A" "A maple syrup urine disease caused by mutations in BCKDHA." "" + "maple syrup urine disease type 1B" "A maple syrup urine disease caused by mutations in BCKDHB." "" + "maple syrup urine disease type 2" "A maple syrup urine disease caused by mutations in DBT." "" + "Marinesco-Sjogren-like syndrome" "A disease with similar features to Marinesco-Sjogren syndrome." "" + "Maroteaux Fonfria syndrome" "" + "Martinez Monasterio Pinheiro syndrome" "A form of blepharo-cheilo-dontic syndrome with with cleft lip and palate, complete absence of deciduous teeth, hypodontia of permanent teeth, hair alterations, hypertelorism, midface hypoplasia, abnormal EEG, syndactyly, and other findings. This is an n-of-1 use case where only one patient or family has been described with this disorder." "" + "mediastinal yolk sac tumor" "An extragonadal non-seminomatous malignant germ cell tumor that arises from the mediastinum. It is characterized by the presence of small pale cells with small amount of cytoplasm and round to oval nuclei with small nucleoli forming a variety of patterns, including microcystic, macrocystic, pseudopapillary, myxomatous, hepatoid, polyvesicular vitelline, and solid. It manifests with respiratory distress, thoracic pain, fever, and superior vena cava syndrome." "" + "obsolete midphalangeal hair" "" "true" + "Milner-Khallouf-Gibson syndrome" "" + "Moebius axonal neuropathy hypogonadism" "" + "multifocal choroiditis" "Multifocal choroiditis (MFC) is an inflammatory disorder characterized by swelling of the eye (called uveitis) and multiple lesions in the choroid, a layer of blood vessels between the white of the eye and the retina. Symptoms include blurry vision, floaters, sensitivity to light, blind spots and mild eye discomfort. Though the cause is unknown, multifocal choroiditis is seen most frequently in women ages 20 to 60, and usually affects both eyes. MFC is generally treated with steroid medication that can be taken orally or injected into the eye. Multifocal choroiditis is a chronic condition, thus symptoms may return or worsen even after successful treatment." "" + "melanoma associated retinopathy" "Melanoma-associated retinopathy (MAR) is a rare autoimmune condition that occurs in some people with melanoma (a type of skin cancer) and can affect the vision." "" + "obsolete Noonan-like/multiple giant cell lesion syndrome" "Noonan-like/multiple giant cell lesion syndrome (NS/MGCLS) is a term used to describe a subgroup of people with Noonan syndrome who also have giant cell lesions (benign tumor-like lesions that most frequently occur in the jaws but may also affect other bones or soft tissues) and resemble individuals who have cherubism. Although NS/MGCLS was once believed to be a separate condition, it is now known to bepart of the Noonan syndrome spectrum. Mutations in the PTPN11 and SOS1 genes have been associated with NS/MGCLS; however, mutations in these genes do not always cause giant cell lesions. One family with NS/MGCLS has been found to have a mutation in the PTPN11 gene butno giant cell lesions, suggesting that other genetic factors may be involved in leading to giant cell development. Multiple giant cell lesions associated with NS may resolve after puberty with variable restoration of the facial structure." "" "true" + "WHIM syndrome" "" + "Martsolf syndrome" "" + "visceral neuropathy, familial" "" + "radio-digito-facial dysplasia" "" + "dry beriberi" "" + "wet beriberi" "" + "neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset" "" + "portal hypertension, noncirrhotic" "" + "miliaria pustulosa" "A miliaria that is characterized by pustules resulting from inflammation and bacterial infection." "" + "miliaria profunda" "A miliaria that is characterized by ductal occlusion of the papillary dermis causing the gland's secretions to leak between the superficial and deep layers of the skin resulting in a rapidly-spreading flesh-colored rash." "" + "miliaria crystallina" "A miliaria that is characterized by clear, superficial, noninflammed, subcorneal vesicles that easily rupture when rubbed and is located in the stratum corneum." "" + "Seckel like syndrome majoor-krakauer type" "" + "transitional cell neoplasm" "" + "obsolete degenerative disorder" "A disorder characterized by the progressive loss of function and/or structure of the affected tissues." "" "true" + "ductal eccrine adenocarcinoma" "" + "obsolete pityriasis" "A name originally applied to a group of skin diseases characterized by the formation of fine, branny scales, but now used only with a modifier. (Dorland, 27th ed)" "" "true" + "pityriasis lichenoides" "A rare cutaneous disorder of unknown etiology that can present either as an acute condition, with multiple papular lesions which become vesicular and necrotic (pityriasis lichenoides et varioliformis acuta) or chronic, with small, scaling papules (pityriasis lichenoides chronica)." "" + "Minamata disease" "A neurological syndrome caused by severe mercury poisoning." "" + "" "true" + "obsolete vibratory angioedema" "" "true" + "massive neonatal aspiration syndrome" "" + "hypothyroidism, congenital, nongoitrous, 2" "A congenital hypothyroidism that has material basis in heterozygous mutation in the PAX8 gene on chromosome 2q13." "" + "Duane syndrome type 1" "Duane syndrome type 1 is the most common type of Duane syndrome, an eye movement disorder that is present at birth. People with Duane syndrome have restricted ability to move the affected eye(s) outward toward the ear (abduction) and/or inward toward the nose (adduction). The different types are distinguished by the eye movements that are most restricted. Duane syndrome type 1 is characterized by absent to very restricted abduction and normal to mildly restricted adduction. The eye opening (palpebral fissure) narrows and the eyeball retracts into the orbit with adduction. With abduction, the reverse occurs. One or both eyes may be affected. The majority of cases are sporadic (not inherited), while about 10% are familial. 70% of affected people do not have any other abnormalities at birth (isolated Duane syndrome). Treatment is mainly supportive and may include glasses or contact lenses for vision correction, eye patches, or surgery." "" + "patent ductus arteriosus 3" "Any patent ductus arteriosus in which the cause of the disease is a mutation in the PRDM6 gene." "" + "obsolete epidemic encephalitis" "" "true" + "" "true" + "amebic dysentery" "Dysentery caused by intestinal amebic infection, chiefly with entamoeba histolytica. This condition may be associated with amebic infection of the liver and other distant sites." "" + "juvenile chronic polyarthritis" "A group of conditions used to describe polyarthritis occurring in children." "" + "Demodex folliculitis" "A demodicidosis that involves the hair follicle." "" + "demodicidosis of sebaceous gland" "A demodicidosis that involves the sebaceous gland." "" + "epsilon-heavy chain disease" "" + "congenital vascular malformation" "A congenital abnormality of the arteries and veins, lymph vessels or veins and lymph vessels." "" + "obsolete disorder of bilirubin metabolism" "" "true" + "obsolete polyposis, gastric, Dos Santos and de Magalhaes 1980" "" "true" + "obsolete nutritional or metabolic disease" "A collective term for nutritional disorders resulting from poor absorption or nutritional imbalance, and metabolic disorders resulting from defects in biosynthesis (ANABOLISM) or breakdown (CATABOLISM) of endogenous substances." "" "true" + "acquired mineral metabolism disease" "An instance of mineral metabolism disease that is acquired during the lifetime of the individual." "" + "internal hirudiniasis" "A condition resulting from accidental ingestion of leeches in drinking water. They may attach themselves to the wall of the pharynx, nasal cavity, or larynx." "" + "external hirudiniasis" "The attachment of leeches to the skin. After the leeches drop off, bleeding may continue as a result of the action of hirudin. Bites may become infected or ulcerate." "" + "acquired hyperprolactinemia" "An instance of hyperprolactinemia (disease) that is acquired during the lifetime of the individual." "" + "acquired lactic acidosis" "An instance of lactic acidosis that is acquired during the lifetime of the individual." "" + "neuropathy, hereditary sensory and autonomic, type 2A" "A hereditary sensory and autonomic neuropathy type 2 characterized by progressive sensory neuropathy with onset in childhood that has material basis in mutation in the HSN2 isoform of the WNK1 gene on chromosome 12p13" "" + "angiodysplasia of stomach" "A angiodysplasia that involves the stomach." "" + "cancer of short bone of upper limb" "" + "parasitemia" "The presence of parasites (especially malarial parasites) in the blood. (Dorland, 27th ed)" "" + "physiological malfunction arising from mental factor" "A dysfunction in biological function that is due to a psychological process." "" + "glomangiomyoma" "A morphologic variant of the glomus tumor with architectural features similar to solid glomus tumor. It is characterized by the presence of elongated glomus cells which resemble mature smooth muscle." "" + "cutaneous glomangiomyoma" "A glomangiomyoma that involves the zone of skin." "" + "pleural adenomatoid tumor" "A rare benign neoplasm that arises from the mesothelial cells of the pleura. It is characterized by a proliferation of epithelioid cells forming glandular and tubular patterns in a fibrous stroma." "" + "chronic renal failure syndrome" "Impairment of the renal function due to chronic kidney damage." "" + "infectious otitis media" "Inflammation of the anatomical structures of the middle ear secondary to an infectious process. Bacterial etiology is most common, but both viral and fungal pathogens are also possible. Symptoms include erythema and edema of the tympanic membrane, pain, and possibly fever. In severe infections, inflammation and edema of the structures of the middle ear can lead to perforation of the tympanic membrane secondary to the buildup of pressure in the narrow space." "" + "perennial allergic rhinitis" "Allergic rhinitis caused by indoor allergens and lasting year round." "" + "sciatica" "A condition characterized by pain radiating from the back into the buttock and posterior/lateral aspects of the leg. Sciatica may be a manifestation of sciatic neuropathy; radiculopathy (involving the spinal nerve roots; L4, L5, S1, or S2, often associated with intervertebral disk displacement); or lesions of the cauda equina." "" + "retinal neuroblastoma" "A neuroblastoma arising from the retina." "" + "pityriasis simplex" "" + "pityriasis folliculorum" "" + "pityriasis streptogenes" "" + "pityriasis amiantacea" "" + "pityriasis capitis" "True" + "pityriasis alba" "" + "pityriasis steatoides" "" + "obsolete familial pityriasis rubra pilaris" "" "true" + "cytomegalovirus pneumonia" "Pneumonia caused by cytomegalovirus. Most humans are exposed to cytomegalovirus. Healthy individuals do not develop signs and symptoms of infection. Patients with weakened immune system (e.g., AIDS patients, cancer patients who are being treated with chemotherapy, and patients who have received bone marrow or solid organ transplants) develop signs and symptoms of infection. They include cough, shortness of breath, fatigue, malaise, fever, muscle and joint pain, and excessive sweating." "" + "primary central sleep apnea syndrome" "" + "drug induced central sleep apnea" "" + "complex sleep apnea" "A distinct form of sleep-disordered breathing characterized as central sleep apnea (CSA), and presents in obstructive sleep apnea (OSA) patients during initial treatment with a continuous positive airway pressure (CPAP) device." "" + "central sleep apnea due to periodic breathing" "" + "central sleep apnea caused by high altitude" "" + "rapid eye movement sleep disorder" "" + "sleep disorder, initiating and maintaining sleep" "" + "circadian rhythm sleep disorder, delayed sleep phase type" "A circadian sleep disorder in which the individual's internal body clock is delayed with respect to the external day/night cycle." "" + "circadian rhythm sleep disorder, advanced sleep phase type" "A circadian sleep disorder characterized by bedtime and wake-up time much earlier than normal, although sleep quality is normal." "" + "circadian rhythm sleep disorder, irregular sleep wake type" "A circadian sleep disorder characterized by at least three sleep episodes per 24-hour period, irregularly from day to day." "" + "circadian rhythm sleep disorder, jet lag type" "A circadian sleep disorder that results from travelling across time zones." "" + "circadian rhythm sleep disorder, shift work type" "A circadian sleep disorder that occurs when work schedules force people to be awake when their circadian rhythms dictate that they should be sleeping. It is classified as a Circadian Rhythm Disorder (CRD) and is extrinsic, i.e. caused by external behavioral factors." "" + "" "true" + "obsolete arenavirus infectious disease" "" "true" + "large cell lung carcinoma, clear cell variant" "A morphologic variant of large cell lung carcinoma characterized by a predominance of clear cells that may or may not contain glycogen." "" + "obsolete actinomycotic infectious disease" "" "true" + "anaerobic balanitis" "" + "obsolete meningitis caused by anaerobic bacteria" "" "true" + "infection caused by Bifidobacterium" "A disease caused by infection with Bifidobacterium." "" + "Peptostreptococcus infectious disease" "A disease caused by infection with Peptostreptococcus." "" + "anaerobic cellulitis" "" + "muscular fibrosis multifocal obstructed vessels" "" + "short stature contractures hypotonia" "" + "Alice in Wonderland syndrome" "A disorienting neuropsychological condition that affects perception. People experience size distortion such as micropsia, macropsia, pelopsia, or teleopsia. Size distortion may occur of other sensory modalities." "" + "allesthesia" "A neurological disorder in which a sensory stimulus, usually tactile but more rarely other sensory modalities, is misperceived in a location distant from the original stimulus." "" + "sacral nerve plexus disease" "A disease that involves the sacral nerve plexus." "" + "autosomal dominant Robinow syndrome 1" "Any autosomal dominant Robinow syndrome in which the cause of the disease is a mutation in the WNT5A gene." "" + "neurodegeneration with brain iron accumulation 2A" "" + "Aeromonas hydrophila intestinal disease" "" + "obsolete Herpesviridae infections" "" "true" + "ovarian dysgenesis 1" "" + "pituitary hormone deficiency, combined, 1" "Any combined pituitary hormone deficiencies, genetic form in which the cause of the disease is a mutation in the POU1F1 gene." "" + "surfactant metabolism dysfunction, pulmonary, 2" "" + "facial paresis, hereditary congenital, 1" "" + "chondrogenic neoplasm" "A benign, intermediate, or malignant cartilaginous matrix-producing neoplasm. Representative examples include osteochondroma, chondroblastoma, and chondrosarcoma." "" + "boutonneuse fever" "An infectious disease of the Mediterranean area, the Crimea, Africa, and India, caused by infection with rickettsia conorii subsp. coronorii." "" + "Astrakhan spotted fever" "An infectious disease of the Astrakhan region, Chad, Kosovo, caused by infection with rickettsia conorii subsp. caspia." "" + "dermatosis of eyelid" "" + "papillary urothelial hyperplasia" "A type of hyperplasia that is characterized by variable thickening of the urinary tract epithelium and a slight papillary growth. The latter is not associated with the presence of fibrovascular cores. There is no evidence of atypia. The relationship between this lesion and papillary urothelial neoplasia is not clear. -- 2003" "" + "obsolete familial chronic mucocutaneous candidiasis" "" "true" + "tumor grading characteristic" "A modifier that can be applied to a tumor class describing abnormal tumor histology or morphology. It is an indicator of how quickly a tumor is likely to grow and spread" "" + "general tumor grading characteristic" "A term that refers to the cellular differentiation of a malignant cellular infiltrate. A cancer is defined through grades I-IV (or 1-4), or as well, moderately, poorly differentiated or undifferentiated." "" + "tumor grade X, general grading system" "" + "tumor grade 2 or 3, general grading system" "A morphologic qualifier indicating that a neoplastic lesion is moderately to poorly differentiated." "" + "glioma susceptibility 1" "" + "enterochromaffin cell serotonin-producing pancreatic neuroendocrine tumor" "A usually slow-growing, grade 1 pancreatic neuroendocrine tumor that secretes serotonin. When it metastasizes to the liver, it produces the clinical symptoms of the carcinoid syndrome." "" + "obsolete disorder by anatomical region" "A broad grouping of diseases based on major body subdivisions." "" "true" + "Adams-Oliver syndrome 1" "Any Adams-Oliver syndrome in which the cause of the disease is a mutation in the ARHGAP31 gene." "" + "aniridia 1" "" + "epilepsy, hot water, 1" "" + "schwannomatosis 1" "" + "reactive thrombocytosis" "A thrombocytosis caused by an underlying condition, such as an infection." "" + "renal hypodysplasia/aplasia 1" "" + "renal hypodysplasia/aplasia 3" "" + "aortic aneurysm, familial abdominal, 1" "" + "amyloidosis, primary localized cutaneous, 1" "Any primary cutaneous amyloidosis in which the cause of the disease is a mutation in the OSMR gene." "" + "aortic valve disease 1" "Any aortic valve disease in which the cause of the disease is a mutation in the NOTCH1 gene." "" + "dyschromatosis universalis hereditaria 1" "" + "Fanconi renotubular syndrome 1" "" + "Zimmermann-Laband syndrome 1" "Any Zimmermann-Laband syndrome in which the cause of the disease is a mutation in the KCNH1 gene." "" + "glomerulopathy with fibronectin deposits 1" "" + "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1" "Any autosomal dominant progressive external ophthalmoplegia in which the cause of the disease is a mutation in the POLG gene." "" + "MVP1" "" + "Bethlem myopathy 1" "" + "myopathy, tubular aggregate, 1" "Any tubular aggregate myopathy in which the cause of the disease is a mutation in the STIM1 gene." "" + "otofaciocervical syndrome 1" "Any otofaciocervical syndrome in which the cause of the disease is a mutation in the EYA1 gene." "" + "pulmonary hypertension, primary, 1" "Any primary pulmonary hypertension in which the cause of the disease is a mutation in the BMPR2 gene." "" + "Dowling-Degos disease 1" "Any Dowling-Degos disease in which the cause of the disease is a mutation in the KRT5 gene." "" + "Singleton-Merten syndrome 1" "Any singleton-Merten dysplasia in which the cause of the disease is a mutation in the IFIH1 gene." "" + "glucocorticoid deficiency 1" "Any familial glucocorticoid deficiency in which the cause of the disease is a mutation in the MC2R gene." "" + "Brown-Vialetto-van Laere syndrome 1" "Any Brown-Vialetto-van Laere syndrome in which the cause of the disease is a mutation in the SLC52A3 gene." "" + "basal ganglia calcification, idiopathic, 1" "" + "choroidal dystrophy, central areolar, 1" "Any central areolar choroidal dystrophy in which the cause of the disease is a mutation in the GUCY2D gene." "" + "dominant GUCY2D retinopathy" "A retinopathy caused by a heterozygous gain of function or dominant-negative variant or in the GUCY2D gene." "" + "Jervell and Lange-Nielsen syndrome 1" "Any Jervell and Lange-Nielsen syndrome in which the cause of the disease is a mutation in the KCNQ1 gene." "" + "trichohepatoenteric syndrome 1" "Any tricho-hepato-enteric syndrome in which the cause of the disease is a mutation in the TTC37 gene." "" + "cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1" "Any dysequilibrium syndrome in which the cause of the disease is a mutation in the VLDLR gene." "" + "brittle cornea syndrome 1" "Any brittle cornea syndrome in which the cause of the disease is a mutation in the ZNF469 gene." "" + "obsolete Heimler syndrome 1" "" "true" + "Miyoshi muscular dystrophy 1" "Any Miyoshi myopathy in which the cause of the disease is a mutation in the DYSF gene." "" + "hypertrophic osteoarthropathy, primary, autosomal recessive, 1" "Any primary hypertrophic osteoarthropathy in which the cause of the disease is a mutation in the HPGD gene." "" + "pancreatic agenesis 1" "Any pancreatic agenesis in which the cause of the disease is a mutation in the PDX1 gene." "" + "peeling skin syndrome 1" "Any peeling skin syndrome in which the cause of the disease is a mutation in the CDSN gene." "" + "microphthalmia with coloboma 1" "" + "frontometaphyseal dysplasia 1" "Any frontometaphyseal dysplasia in which the cause of the disease is a mutation in the FLNA gene." "" + "X-linked lymphoproliferative disease due to SH2D1A deficiency" "A rare, genetic, primary immunodeficiency disorder characterized by an abnormal immune response to Epstein-Barr virus (EBV) infection, caused by hemizygous mutations in the X-linked SH2D1A gene, resulting in B cell lymphoproliferation and manifesting with various phenotypes which include EBV-driven severe or fulminant mononucleosis, hemophagocytic lymphohistiocytosis (presenting with fulminant hepatitis, hepatic necrosis, bone marrow hypoplasia, and neurological involvement), hypogammaglobulinemia, and B-cell lymphoma. Additional variable manifestations include vasculitis, lymphomatoid granulomatosis, aplastic anemia, and chronic gastritis. Occasionally, T-cell lymphoma may be observed. Laboratory findings include normal or increased activated T cells and reduced memory B cells." "" + "linear skin defects with multiple congenital anomalies 1" "Any microphthalmia with linear skin defects syndrome in which the cause of the disease is a mutation in the HCCS gene." "" + "myopathy, lactic acidosis, and sideroblastic anemia 1" "Any myopathy, lactic acidosis, and sideroblastic anemia in which the cause of the disease is a mutation in the PUS1 gene." "" + "D-2-hydroxyglutaric aciduria 1" "Any D-2-hydroxyglutaric aciduria in which the cause of the disease is a mutation in the D2HGDH gene." "" + "megalencephalic leukoencephalopathy with subcortical cysts 1" "" + "epilepsy, familial focal, with variable foci 1" "Any epilepsy, familial focal, with variable foci in which the cause of the disease is a mutation in the DEPDC5 gene." "" + "ataxia-telangiectasia-like disorder 1" "Any ataxia-telangiectasia-like disorder in which the cause of the disease is a mutation in the MRE11 gene." "" + "radioulnar synostosis with amegakaryocytic thrombocytopenia 1" "Any radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome in which the cause of the disease is a mutation in the HOXA11 gene." "" + "AAT1" "" + "PDA1" "" + "vitelliform macular dystrophy 3" "Any vitelliform macular dystrophy in which the cause of the disease is a mutation in the PRPH2 gene." "" + "sick sinus syndrome 1" "Any sick sinus syndrome in which the cause of the disease is a mutation in the SCN5A gene." "" + "herpes simplex encephalitis, susceptibility to, 1" "Any herpes simplex encephalitis in which the cause of the disease is a mutation in the UNC93B1 gene." "" + "cerebroretinal microangiopathy with calcifications and cysts 1" "Any Coats plus syndrome in which the cause of the disease is a mutation in the CTC1 gene." "" + "ectodermal dysplasia-syndactyly syndrome 1" "Any ectodermal dysplasia-syndactyly syndrome in which the cause of the disease is a mutation in the NECTIN4 gene." "" + "febrile seizures, familial, 11" "" + "hypotonia, infantile, with psychomotor retardation and characteristic facies 1" "Any hypotonia, infantile, with psychomotor retardation and characteristic facies in which the cause of the disease is a mutation in the NALCN gene." "" + "optic atrophy 8" "" + "hyperparathyroidism 4" "Any familial isolated hyperparathyroidism in which the cause of the disease is a mutation in the GCM2 gene." "" + "immunodeficiency-related disorder" "A non-neoplastic or neoplastic disorder that develops in a patient with immunodeficiency. Representative examples include AIDS-related disorders and disorders that develop following organ transplantation." "" + "obstetric disorder" "Disorder associated with pregnancy, childbirth, and puerperium." "" + "" "true" + "obsolete hernia" "The protrusion of part of an organ or fibroadipose tissue through an abnormal opening." "" "true" + "obsolete CD3epsilon deficiency" "" "true" + "congenital muscular dystrophy with cataracts and intellectual disability" "A congenital muscular dystrophy characterized by onset of progressive muscle weakness in early childhood with autosomal recessive inheritance that has material basis in homozygous or compound heterozygous mutation in the INPP5K gene (607875) on chromosome 17p13." "" + "dientamoebiasis" "Gastrointestinal infection with organisms of the genus dientamoeba." "" + "manic bipolar affective disorder" "The manic phase of bipolar disorder." "" + "bipolar depression" "The depressive stage of bipolar disorder." "" + "neurotic depression" "A term used for any state of depression that is not psychotic." "" + "meningitis caused by poliovirus" "" + "obsolete atrophy of lacrimal gland" "A degenerative disorder that involves the lacrimal gland." "" "true" + "defective phagocytic cell chemotaxis" "" + "defective phagocytic cell opsonization" "" + "pancreatic gastrinoma" "A neuroendocrine tumor arising from the pancreas. It is characterized by inappropriate secretion of gastrin and associated with Zollinger Ellison syndrome. The latter is characterized by the presence of peptic ulcer, gastroesophageal reflux disease, abdominal pain, diarrhea, and malabsorption." "" + "gastric enterochromaffin cell serotonin-producing neuroendocrine tumor" "A well differentiated neuroendocrine tumor that arises from the stomach. It produces serotonin and it may occasionally be found in association with a carcinoid syndrome." "" + "gastric neuroendocrine tumor G2" "A well differentiated, intermediate grade tumor with neuroendocrine differentiation that arises from the stomach. The mitotic count is 2-20 per 10 HPF and/or the Ki67 index is 3 to 20 percent." "" + "obsolete refractory" "" "true" + "drug-induced osteoporosis" "" + "obsolete macrocystic neurilemmoma" "" "true" + "primary skin meningioma" "" + "skin lymphangioma" "A lymphangioma arising from the skin." "" + "Pancoast syndrome" "A rare neoplastic syndrome characterized by obstruction of the thoracic outlet leading to compression of the brachial plexus and vessels within. It is usually caused by a malignant neoplasm in the superior pulmonary sulcus. The most commonly involved neoplasms are non-small cell lung carcinomas. Clinical signs include Horner's syndrome, shoulder pain radiating down the arm in the ulnar distribution followed by edema and atrophy of the affected extremity. Clinical course usually leads to early local invasion of the bony thoracic structures. Prognosis is highly stage-dependent." "" + "adult kidney Wilms tumor" "Wilms tumor of the kidney which occurs in adults." "" + "childhood kidney Wilms tumor" "A Wilms tumor of the kidney which occurs in children." "" + "pancreatic insulinoma" "An insulin-producing neuroendocrine tumor arising from the beta cells of the pancreas. Patients exhibit symptoms related to hypoglycemia due to inappropriate secretion of insulin." "" + "Philadelphia-positive myelogenous leukemia" "" + "tenosynovial giant cell tumor, diffuse type" "A locally aggressive, diffusely infiltrating tumor, arising in the tendon sheath. It is composed of synovial-like mononuclear cells, hemosiderin-laden macrophages, foam cells, and inflammatory cells. Multinucleated osteoclast-like giant cells are usually present, although in a minority of cases they may be absent or rare. It predominantly affects young adults. Symptoms include joint swelling, pain, and joint effusion." "" + "malignant mixed epithelial stromal tumor of the kidney" "A mixed epithelial stromal tumor of the kidney with malignant stromal features." "" + "immature extragonadal teratoma" "An immature teratoma that develops as a primary tumor in an anatomic site other than the testis or ovary." "" + "mixed teratoma and seminoma" "" + "small size posterior uveal melanoma" "" + "medium/large size posterior uveal melanoma" "" + "metastatic carcinoma in the adrenal medulla" "A carcinoma that has spread to the adrenal medulla from an adjacent or distant anatomic site." "" + "clitoral carcinoma" "A carcinoma that arises from the clitoris." "" + "secondary carcinoma" "A carcinoma that arises from a pre-existing lower grade epithelial lesion, or as a result of a primary carcinoma that has spread to secondary sites, or due to a complication of a cancer treatment." "" + "secondary malignant neoplasm" "A malignant neoplasm that arises from a pre-existing lower grade lesion, or as a result of a primary lesion that has spread to secondary sites, or due to a complication of a cancer treatment." "" + "metastatic malignant neoplasm" "A malignant tumor that has spread from its original (primary) site of growth to another site close to or distant from the primary site." "" + "metastatic carcinoma in the bone" "A carcinoma that has spread to the bone from another, primary anatomic site. Bone is one of the most frequent sites of metastatic carcinoma. Common sites of origin include lung, breast, and prostate." "" + "benign mesonephroma" "A benign epithelial neoplasm of the female reproductive system arising from mesonephric remnants." "" + "soft tissue amyloid neoplasm" "A soft tissue neoplasm composed of acellular amyloid material." "" + "toxocara canis infection (canine roundworms)" "" + "bird disease" "Diseases of birds not considered poultry, therefore usually found in zoos, parks, and the wild. The concept is differentiated from poultry diseases which is for birds raised as a source of meat or eggs for human consumption, and usually found in barnyards, hatcheries, etc." "" + "cat disease" "Diseases of the domestic cat (Felis catus or F. domesticus). This term does not include diseases of the so-called big cats such as cheetahs; lions; tigers, cougars, panthers, leopards, and other Felidae for which the heading carnivora is used." "" + "dog disease" "Diseases of the domestic dog (Canis familiaris). This term does not include diseases of wild dogs, wolves; foxes; and other Canidae for which the heading carnivora is used." "" + "foot rot" "A disease of the horny parts and of the adjacent soft structures of the feet of cattle, swine, and sheep. It is usually caused by Corynebacterium pyogenes or Bacteroides nodosus (see dichelobacter nodosus). It is also known as interdigital necrobacillosis. (From Black's Veterinary Dictionary, 18th ed)" "" + "hepatitis, non-human animal" "Inflammation of the liver in non-human animals." "" + "horse disease" "Diseases of domestic and wild horses of the species Equus caballus." "" + "lameness, non-human animal" "A departure from the normal gait in animals." "" + "larva migrans, visceral" "A condition produced in humans by the prolonged migration of animal nematode larvae in extraintestinal tissues other than skin; characterized by persistent hypereosinophilia, hepatomegaly, and frequently pneumonitis, commonly caused by Toxocara canis and Toxocara cati." "" + "muscular dystrophy, non-human animal" "" + "parasitic disease, non-human animal" "Infections or infestations with parasitic organisms. The infestation may be experimental or veterinary." "" + "parturient paresis" "A disease of pregnant and lactating cows and ewes leading to generalized paresis and death. The disease, which is characterized by hypocalcemia, occurs at or shortly after parturition in cows and within weeks before or after parturition in ewes." "" + "pneumonia, atypical interstitial, of cattle" "A cattle disease of uncertain cause, probably an allergic reaction." "" + "rodent disease" "Diseases of rodents of the order rodentia. This term includes diseases of Sciuridae (squirrels), Geomyidae (gophers), Heteromyidae (pouched mice), Castoridae (beavers), Cricetidae (rats and mice), Muridae (Old World rats and mice), Erethizontidae (porcupines), and Caviidae (guinea pigs)." "" + "salmonella infections, animal" "Infections in animals with bacteria of the genus salmonella." "" + "sheep disease" "Diseases of domestic and mountain sheep of the genus Ovis." "" + "swine disease" "Diseases of domestic swine and of the wild boar of the genus Sus." "" + "obsolete Usher syndrome, type 2b" "" "true" + "goat disease" "Diseases of the domestic or wild goat of the genus Capra." "" + "non-human primate disease" "Diseases of animals within the order primates. This term includes diseases of Haplorhini and Strepsirhini." "" + "vesicular stomatitis" "A viral disease caused by at least two distinct species (serotypes) in the vesiculovirus genus: vesicular stomatitis indiana virus and vesicular stomatitis new jersey virus. It is characterized by vesicular eruptions on the oral mucosa in cattle, horses, pigs, and other animals. In humans, vesicular stomatitis causes an acute influenza-like illness." "" + "digital dermatitis in cattle" "Highly contagious infectious dermatitis with lesions near the interdigital spaces usually in cattle. It causes discomfort and often severe lameness (lameness, animal). Lesions can be either erosive or proliferative and wart-like with papillary growths and hypertrophied hairs. dichelobacter nodosus and treponema are the most commonly associated causative agents for this mixed bacterial infection disease." "" + "edema disease of swine" "An acute disease of young pigs that is usually associated with weaning. It is characterized clinically by paresis and subcutaneous edema." "" + "encephalomyelitis, enzootic porcine" "A picornavirus infection producing symptoms similar to poliomyelitis in pigs." "" + "epidermitis, exudative, of swine" "An acute generalized dermatitis of pigs which occurs from 5 to 35 days of age, characterized by sudden onset, with morbidity of 10 to 90% and mortality of 5 to 90%. The lesions are caused by Staphylococcus hyos but the bacterial agent is unable to penetrate the intact skin. Abrasions on the feet and legs or lacerations on the body frequently precede infection. In acute cases, a vesicular-type virus may be the predisposing factor. The causative organism is inhibited by most antibiotics. (Merck Veterinary Manual, 5th ed)" "" + "hepatitis, viral, animal" "Inflammation of the liver in animals due to viral infection." "" + "hip dysplasia, canine" "A hereditary disease of the hip joints in dogs. Signs of the disease may be evident any time after 4 weeks of age." "" + "classical swine fever" "An acute, highly contagious disease affecting swine of all ages and caused by the classical swine fever virus. It has a sudden onset with high morbidity and mortality." "" + "infectious bovine rhinotracheitis" "A herpesvirus infection of cattle characterized by inflammation and necrosis of the mucous membranes of the upper respiratory tract." "" + "malaria, avian" "Any of a group of infections of fowl caused by protozoa of the genera plasmodium, Leucocytozoon, and Haemoproteus. The life cycles of these parasites and the disease produced bears strong resemblance to those observed in human malaria." "" + "malignant catarrh" "A herpesvirus infection of cattle characterized by catarrhal inflammation of the upper respiratory and alimentary epithelia, keratoconjunctivitis, encephalitis and lymph node enlargement. Syn: bovine epitheliosis, snotsiekte." "" + "mastitis, bovine" "Inflammation of the udder in cows." "" + "monkey disease" "Diseases of Old World and New World monkeys. This term includes diseases of baboons but not of chimpanzees or gorillas (= ape diseases)." "" + "poultry disease" "Diseases of birds which are raised as a source of meat or eggs for human consumption and are usually found in barnyards, hatcheries, etc. The concept is differentiated from bird diseases which is for diseases of birds not considered poultry and usually found in zoos, parks, and the wild." "" + "protozoan infections, animal" "Infections with unicellular organisms formerly members of the subkingdom Protozoa. The infections may be experimental or veterinary." "" + "swine erysipelas" "An acute and chronic contagious disease of young pigs caused by Erysipelothrix insidiosa." "" + "swine vesicular disease" "An enterovirus infection of swine clinically indistinguishable from foot-and-mouth disease, vesicular stomatitis, and vesicular exanthema of swine. It is caused by a strain of human enterovirus B." "" + "tuberculosis, avian" "A variety of tuberculosis affecting various birds, including chickens and ducks. It is caused by mycobacterium avium and characterized by tubercles consisting principally of epithelioid cells." "" + "tuberculosis, bovine" "An infection of cattle caused by mycobacterium bovis. It is transmissible to man and other animals." "" + "vesicular exanthema of swine" "A calicivirus infection of swine characterized by hydropic degeneration of the oral and cutaneous epithelia." "" + "white muscle disease" "A myodegeneration most frequent in calves and lambs whose dams have been fed during gestation or longer on feeds, especially legumes (fabaceae), grown in certain areas where selenium is either deficient or unavailable in the soil. It has been recorded in many countries. It has been produced experimentally in several species of animals on low-selenium intake. A similar myopathy occurs naturally in goats, deer, foals, and dogs but proof of the etiology is lacking. (Merck Veterinary Manual, 5th ed)" "" + "non-human ape disease" "Diseases of chimpanzees, gorillas, and orangutans." "" + "hemorrhagic syndrome, bovine" "Clinically severe acute disease of cattle caused by noncytopathic forms of Bovine viral diarrhea virus 2 (diarrhea virus 2, bovine viral). Outbreaks are characterized by high morbidity and high mortality." "" + "pneumonia of swine, mycoplasmal" "A chronic, clinically mild, infectious pneumonia of pigs caused by mycoplasma hyopneumoniae. Ninety percent of swine herds worldwide are infected with this economically costly disease that primarily affects animals aged two to six months old. The disease can be associated with porcine respiratory disease complex. pasteurella multocida is often found as a secondary infection." "" + "white heifer disease" "A congenital reproductive abnormality in white female offspring (heifers) in certain breeds of cattle, such as Belgian Blue and Shorthorn. The white color is inherited as a recessive trait which is associated with defects in the female reproductive tract (Muellerian system). These heifers are usually sterile." "" + "reticuloendotheliosis, avian" "A group of pathologic syndromes found in avian species caused by reticuloendotheliosis virus. The distinct syndromes include non-neoplastic runting, acute neoplastic disease, and chronic neoplastic disease. Humans and mammals appear resistant." "" + "" "true" + "" "true" + "strongyle infections, equine" "Infection of horses with parasitic nematodes of the superfamily strongyloidea. Characteristics include the development of hemorrhagic nodules on the abdominal peritoneum." "" + "toxoplasmosis, non-human animal" "Acquired infection of non-human animals by organisms of the genus toxoplasma." "" + "trypanosomiasis, bovine" "Infection in cattle caused by various species of trypanosomes." "" + "poult enteritis mortality syndrome" "An acute, transmissible, infectious disease associated with high mortality and morbidity in young turkeys (poults). It is characterized by diarrhea; anorexia; growth depression, and immune dysfunction. The cause is unknown but astroviruses (avastrovirus) and coronaviruses (coronavirus, turkey) have been isolated from diseased poults and are thought to cause the enteritis and increased susceptibility to bacterial infections." "" + "zoonotic bacterial infection" "A bacterial infection that is transmitted from animals to people." "" + "multiple congenital anomalies-neurodevelopmental syndrome, x-linked" "" + "developmental and epileptic encephalopathy, 90" "" + "spermatogenic failure, X-linked, 3" "" + "azoospermia, obstructive, with nephrolithiasis" "" + "Nairobi sheep disease" "An arbovirus infection of sheep and goats transmitted by ticks. It is characterized by high fever and hemorrhagic gastroenteritis." "" + "African horse sickness" "An insect-borne reovirus infection of horses, mules and donkeys in Africa and the Middle East; characterized by pulmonary edema, cardiac involvement, and edema of the head and neck." "" + "African swine fever" "A sometimes fatal asfivirus infection of pigs, characterized by fever, cough, diarrhea, hemorrhagic lymph nodes, and edema of the gallbladder. It is transmitted between domestic swine by direct contact, ingestion of infected meat, or fomites, or mechanically by biting flies or soft ticks (genus Ornithodoros)." "" + "avian leukosis" "A group of transmissible viral diseases of chickens and turkeys. Liver tumors are found in most forms, but tumors can be found elsewhere." "" + "sarcoma, avian" "Connective tissue tumors, affecting primarily fowl, that are usually caused by avian sarcoma viruses." "" + "bluetongue" "A reovirus infection, chiefly of sheep, characterized by a swollen blue tongue, catarrhal inflammation of upper respiratory and gastrointestinal tracts, and often by inflammation of sensitive laminae of the feet and coronet." "" + "brucellosis, bovine" "A disease of cattle caused by bacteria of the genus brucella leading to abortion in late pregnancy. brucella abortus is the primary infective agent." "" + "canine distemper" "A viral disease caused by canine distemper virus that affects a wide variety of animal families, including domestic and wild species of dogs, coyotes, foxes, pandas, wolves, ferrets, skunks, raccoons, and large cats, as well as pinnipeds, some primates, and a variety of other species." "" + "coronaviral enteritis of turkeys" "An acute, highly contagious virus disease of turkeys characterized by chilling, anorexia, decreased water intake, diarrhea, dehydration and weight loss. The infectious agent is a coronavirus." "" + "feline panleukopenia" "A highly contagious dna virus infection of the cat family, characterized by fever, enteritis and bone marrow changes. It is also called feline ataxia, feline agranulocytosis, feline infectious enteritis, cat fever, cat plague, and show fever. It is caused by feline panleukopenia virus or the closely related mink enteritis virus or canine parvovirus." "" + "fowlpox" "A poxvirus infection of poultry and other birds characterized by the formation of wart-like nodules on the skin and diphtheritic necrotic masses (cankers) in the upper digestive and respiratory tracts." "" + "furunculosis" "A persistent skin infection marked by the presence of furuncles, often chronic and recurrent. In humans, the causative agent is various species of staphylococcus. In salmonid fish (salmonids), the pathogen is aeromonas salmonicida." "" + "gastroenteritis, transmissible, of swine" "A condition of chronic gastroenteritis in adult pigs and fatal gastroenteritis in piglets caused by a coronavirus." "" + "hepatitis, infectious canine" "A contagious disease caused by canine adenovirus (adenoviruses, canine) infecting the liver, the eye, the kidney, and other organs in dogs, other canids, and bears. Symptoms include fever; edema; vomiting; and diarrhea." "" + "keratoconjunctivitis, infectious" "Infectious diseases of cattle, sheep, and goats, characterized by blepharospasm, lacrimation, conjunctivitis, and varying degrees of corneal opacity and ulceration. In cattle the causative agent is moraxella (moraxella) bovis; in sheep, mycoplasma; rickettsia; chlamydia; or acholeplasma; in goats, rickettsia." "" + "paratuberculosis" "A chronic gastroenteritis in ruminants caused by mycobacterium avium subspecies paratuberculosis." "" + "pneumonia, progressive interstitial, of sheep" "Chronic respiratory disease caused by the visna-maedi virus. It was formerly believed to be identical with jaagsiekte (pulmonary adenomatosis, ovine) but is now recognized as a separate entity." "" + "pulmonary adenomatosis, ovine" "A contagious, neoplastic, pulmonary disease of sheep characterized by hyperplasia and hypertrophy of pneumocytes and epithelial cells of the lung. It is caused by jaagsiekte sheep retrovirus." "" + "rinderpest" "A viral disease of cloven-hoofed animals caused by morbillivirus. It may be acute, subacute, or chronic with the major lesions characterized by inflammation and ulceration of the entire digestive tract. The disease was declared successfully eradicated worldwide in 2010." "" + "venereal tumors, veterinary" "Tumors most commonly seen on or near the genitalia. They are venereal, most likely transmitted through transplantation of cells by contact. Metastases have been reported. Spontaneous regression may occur." "" + "zoonosis" "An infectious disease of non-human animals that may be transmitted to humans or may be transmitted from humans to non-human animals, caused by a pathogen (an infectious agent, including bacteria, viruses, parasites, prions, etc)." "" + "mammary neoplasms, animal" "Tumors or cancer of the mammary gland in animals (mammary glands, animal)." "" + "simian acquired immunodeficiency syndrome" "Acquired defect of cellular immunity that occurs naturally in macaques infected with srv serotypes, experimentally in monkeys inoculated with srv or mason-pfizer monkey virus; (mpmv), or in monkeys infected with simian immunodeficiency virus." "" + "feline acquired immunodeficiency syndrome" "Acquired defect of cellular immunity that occurs in cats infected with feline immunodeficiency virus (fiv) and in some cats infected with feline leukemia virus (Felv)." "" + "murine acquired immunodeficiency syndrome" "Acquired defect of cellular immunity that occurs in mice infected with mouse leukemia viruses (Mulv). The syndrome shows striking similarities with human aids and is characterized by lymphadenopathy, profound immunosuppression, enhanced susceptibility to opportunistic infections, and B-cell lymphomas." "" + "leukemia, feline" "A neoplastic disease of cats frequently associated with feline leukemia virus infection." "" + "enzootic bovine leukosis" "A lymphoid neoplastic disease in cattle caused by the bovine leukemia virus. Enzootic bovine leukosis may take the form of lymphosarcoma, malignant lymphoma, or leukemia but the presence of malignant cells in the blood is not a consistent finding." "" + "feline infectious peritonitis" "Common coronavirus infection of cats caused by the feline infectious peritonitis virus (coronavirus, feline). The disease is characterized by a long incubation period, fever, depression, loss of appetite, wasting, and progressive abdominal enlargement. Infection of cells of the monocyte-macrophage lineage appears to be essential in FIP pathogenesis." "" + "porcine reproductive and respiratory syndrome" "A syndrome characterized by outbreaks of late term abortions, high numbers of stillbirths and mummified or weak newborn piglets, and respiratory disease in young unweaned and weaned pigs. It is caused by porcine respiratory and reproductive syndrome virus. (Radostits et al., Veterinary Medicine, 8th ed, p1048)" "" + "mink viral enteritis" "A highly contagious parvovirus infection in mink, caused by mink enteritis virus or the closely related feline panleukopenia virus or canine parvovirus. Transmission usually occurs by the fecal/oral route." "" + "porcine postweaning multisystemic wasting syndrome" "A worldwide emerging disease of weaned piglets first recognized in swine herds in western Canada in 1997. This syndrome is characterized by progressive weight loss, rapid (tachypnea) and difficult (dyspnea) breathing, and yellowing of skin. PMWS is caused by porcine circovirus infection, specifically type 2 or PCV-2." "" + "pythiosis" "A granulomatous disease caused by the aquatic organism pythium insidiosum and occurring primarily in horses, cattle, dogs, cats, fishes, and rarely in humans. It is classified into three forms: ocular, cutaneous, and arterial." "" + "type II hypersensitivity reaction disease" "A disease that has its basis in the disruption of type II hypersensitivity." "" + "autoimmune urticaria" "An autoimmune form of urticaria (disease)." "" + "livedoid vasculopathy" "Livedoid vasculopathy is a blood vessel disorder that causes painful ulcers and scarring (atrophie blanche) on the feet and lower legs. These symptoms can persist for months to years and the ulcers often recur.Livedoid vasculopathy lesions appear as painful red or purple marks and spots that may progress to small, tender, irregular ulcers. Symptoms tend to worsen in the winter and summer months, and affect women more often then men. Livedoid vasculopathy may occur alone or in combination with another condition, such as lupus or thrombophilia." "" + "obsolete shrimp allergy" "A allergic disease involving a shrimp food product." "" "true" + "obsolete aspirin allergy" "A allergic disease involving a acetylsalicylic acid." "" "true" + "isocyanate induced asthma" "" + "pneumonia caused by chlamydia" "An pneumonia caused by infection with Chlamydia." "" + "Charcot-Marie-Tooth disease, axonal, mitochondrial form, 1" "" + "limbal stem cell deficiency" "" + "microcephaly, epilepsy, and diabetes syndrome 2" "" + "microcephaly, epilepsy, and diabetes syndrome" "" + "dystonia 30" "" + "Coffin-Siris syndrome 12" "" + "leukodystrophy, hypomyelinating, 22" "" + "megacystis-microcolon-intestinal hypoperistalsis syndrome 2" "" + "megacystis-microcolon-intestinal hypoperistalsis syndrome" "" + "angioedema, hereditary, 4" "" + "angioedema, hereditary, 7" "" + "ovarian remnant syndrome" "Ovarian remnant syndrome (ORS) is characterized by the presence of residual ovarian tissue after a woman has had surgery to remove one ovary or both ovaries (oophorectomy). Signs and symptoms may include pelvic pain, a pelvic mass, or the absence of menopause after oophorectomy. The condition may be caused by surgical factors leading to incomplete removal of ovarian tissue, including factors that limit surgical exposure of the ovary or compromise surgical technique. Factors may include pelvic adhesions (limiting ability to see the ovary or causing it to adhere to other tissues); anatomic variations; bleeding during surgery; or poor surgical technique. Treatment is indicated for people with symptoms and typically involves surgery to remove the residual tissue. Therapy for those who refuse surgery, cannot have surgery, or do not have a pelvic mass may include hormonal therapy to suppress ovarian function." "" + "prurigo nodularis" "Prurigonodularis (PN) is a skin disease in which hard crusty lumps are formed on the skin that itches intensely. Repetitive rubbing, scratching, and touching results in more lesions in the skin. The itching is so intense that people scratch themselves to the point of bleeding or pain. The lumps formed in the skin are hard, and have about a half inch across, with a dry and rough top that is often scratched open. They tend to be located in the areas most easily reached and are worse on the outer sides: arms, shoulders and legs. The trunk, face and even palms can also be affected. The exact cause is unknown but some factors triggering PN include liver and kidneys problems, nervous and mental conditions and other skin diseases. Prurigo nodulares, in some cases, can be seen in other diseases such as lymphoma, chronic autoimmune cholestatic hepatitis, HIV infection, severe anemia,or a chronic kidney disease-related itching known as uremic pruritus. Treatment is very difficult, and may include corticoids, antihistaminic and other medication such as thalidomide and similar (Lenalidomide). In some cases, cryotherapy, photochemotherapy and habit reversal therapy for the itch-scratch cycle has improved the symptoms. PN can last for many years, and the itching is so intense that may affect all the everyday activities." "" + "X inactivation, familial skewed, 1" "" + "X inactivation, familial skewed" "" + "X inactivation, familial skewed, 2" "" + "mitochondrial complex 1 deficiency, nuclear type 12" "" + "mitochondrial complex I deficiency, nuclear type" "" + "mitochondrial complex 1 deficiency, nuclear type 30" "" + "Mullegama-Klein-Martinez syndrome" "" + "intellectual developmental disorder, X-linked 108" "" + "Paganini-Miozzo syndrome" "" + "nephrotic syndrome, type 20" "" + "Shukla-Vernon syndrome" "" + "congenital disorder of glycosylation, type ICC" "" + "Basilicata-Akhtar syndrome" "" + "hypothyroidism, congenital, nongoitrous, 8" "" + "hypothyroidism, congenital, nongoitrous, 9" "" + "intellectual developmental disorder, X-linked, syndromic, Hackmann-Di Donato type" "" + "obsolete histidinuria-renal tubular defect syndrome" "" "true" + "Wieacker-Wolff syndrome, female-restricted" "" + "holoprosencephaly 13, X-linked" "" + "congenital disorder of glycosylation, type IIr" "" + "immunodeficiency 74, COVID-19-related, X-linked" "" + "warfarin sensitivity, X-linked" "" + "developmental and epileptic encephalopathy, 85, with or without midline brain defects" "" + "VEXAS syndrome" "An adult-onset inflammatory disease that affects only males and is caused by somatic, not germline, mutations. The disorder is characterized by adult onset of rheumatologic symptoms at a mean age of 64 years. Features include recurrent fevers, pulmonary and dermatologic inflammatory manifestations, vasculitis, deep vein thrombosis, arthralgias, and ear and nose chondritis. Laboratory studies indicate hematologic abnormalities, including macrocytic anemia, as well as increased levels of acute-phase reactants; about half of patients have positive autoantibodies. Bone marrow biopsy shows degenerative vacuolization restricted to myeloid and erythroid precursor cells, as well as variable hematopoietic dyspoiesis and dysplasias. The condition does not respond to rheumatologic medications and the features may result in premature death." "" + "chondrodysplasia punctata 2, X-linked dominant" "True" + "obsolete homosexuality 1" "" "true" + "HHV-6 encephalitis" "HHV-6 encephalitis refers to inflammation of the brain due to an infection with human herpesvirus 6. People who have undergone allogeneic hematopoietic cell transplantation are at an increased risk for developing HHV-6 encephalitis, particularly when umbilical cord blood stem cells are used. People with immune system disorders may also be at an increased risk for developing this infection. Signs and symptoms vary, but often include confusion, anterograde amnesia (difficulty learning new information following the onset of amnesia), short-term memory loss, and seizures.Diagnosis often involves lumbar puncture, virus testing, and MRI. EEG 's may also be recommendedwhen seizures are suspected. HHV-6 encephalitis is treated with an antiviral agent with activity against HHV-6. Long term outlook (chance of full recovery) can vary considerably depending individual patient factors." "" + "deafness, Y-linked 2" "" + "mitochondrial complex 1 deficiency, mitochondrial type 1" "Any mitochondrial complex 1 deficiency, mitochondrial type 1, in which the cause of the disease is a mutation in the MTND3 gene." "" + "mitochondrial complex I deficiency, mitochondrial type" "" + "mitochondrial complex 5 (ATP synthase) deficiency, mitochondrial type 1" "" + "xanthogranulomatous sialadenitis" "" + "autosomal recessive dyskeratosis congenita 4" "A dyskeratosis congenita that has material basis in an autosomal recessive mutation of TERT on chromosome 5p15.33." "" + "obsolete retinal cone dystrophy 2" "" "true" + "autosomal recessive cutis laxa type 2D" "An autosomal recessive cutis laxa type II classic type characterized by cardiovascular and neurologic involvement and that has material basis in homozygous mutation in the ATP6V1A gene on chromosome 3q13." "" + "autosomal recessive cutis laxa type 2C" "An autosomal recessive cutis laxa type II classic type characterized by cardiovascular involvement that has material basis in homozygous mutation in the ATP6V1E1 gene on chromosome 22q11." "" + "congenital anomalies of kidney and urinary tract 2" "Any congenital anomaly of kidney and urinary tract in which the cause of the disease is a mutation in the TBX18 gene." "" + "amyotrophic lateral sclerosis type 23" "" + "serpinopathy with toxic serpin polymerization" "True" + "serpinopathy with loss of serpin function" "True" + "gastroenteric neuroendocrine neoplasm" "" + "obsolete biliary atresia disorder" "" "true" + "obsolete overgrowth or tall stature syndrome with skeletal involvement" "" "true" + "obsolete dysostosis with brachydactyly without extraskeletal manifestations" "" "true" + "obsolete dysostosis with brachydactyly with extraskeletal manifestations" "" "true" + "obsolete chemically-induced disorder" "Disorders caused by the intentional or unintentional ingestion or exposure to chemical substances such as pharmaceutical preparations; noxae; and pesticides." "" "true" + "obsolete ureteropelvic junction obstruction" "" "true" + "polydactyly, postaxial, type A8" "" + "peripheral neuropathy, autosomal recessive, with or without impaired intellectual development" "" + "Liddle syndrome 3" "" + "muscular dystrophy, limb-girdle, autosomal dominant 4" "" + "severe combined immunodeficiency due to CARMIL2 deficiency" "" + "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8" "" + "muscular dystrophy, limb-girdle, autosomal recessive 23" "" + "hearing loss, autosomal dominant 74" "" + "developmental and epileptic encephalopathy, 67" "" + "glycosylphosphatidylinositol biosynthesis defect 18" "" + "Usher syndrome, type 4" "" + "hearing loss, autosomal recessive 111" "" + "intellectual developmental disorder with hypertelorism and distinctive facies" "" + "extraoral halitosis due to methanethiol oxidase deficiency" "" + "orofacial cleft 8" "" + "obsolete Saul-Wilson syndrome" "" "true" + "spermatogenic failure 33" "" + "spermatogenic failure 34" "" + "autism, susceptibility to, 20" "" + "epilepsy, early-onset, with or without developmental delay" "" + "combined oxidative phosphorylation deficiency 40" "" + "combined oxidative phosphorylation deficiency 41" "" + "combined oxidative phosphorylation deficiency 42" "" + "alopecia-intellectual disability syndrome 4" "" + "hypogonadotropic hypogonadism 25 with anosmia" "" + "Diets-Jongmans syndrome" "" + "immunodeficiency 66" "" + "muscular dystrophy, limb-girdle, autosomal recessive 26" "" + "bone marrow failure syndrome 6" "" + "" "true" + "hypervalinemia and hyperleucine-isoleucinemia" "Elevated levels of plasma valine and leucine/isoleucine levels, associated with symptoms of headache and mild memory loss and attributed to biallelic variants in the BCAT2 gene. BCAT2 encodes branched-chain aminotransferase 2 which catalyzes the transamination of the branched chain amino acids to their respective α-keto acids." "" + "combined oxidative phosphorylation deficiency 43" "" + "autoinflammation with episodic fever and lymphadenopathy" "" + "anauxetic dysplasia 3" "" + "combined oxidative phosphorylation deficiency 44" "" + "neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities" "" + "neurodevelopmental disorder with hypotonia, microcephaly, and seizures" "" + "retinal dystrophy with leukodystrophy" "" + "tremor, hereditary essential, 6" "" + "neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline" "" + "skeletal dysplasia, mild, with joint laxity and advanced bone age" "" + "Nizon-Isidor syndrome" "" + "lissencephaly 10" "" + "chromosome 17q11.2 duplication syndrome, 1.4-mb" "" + "seizures, early-onset, with neurodegeneration and brain calcifications" "" + "epilepsy, progressive myoclonic, 11" "" + "leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome" "" + "leukoencephalopathy, motor delay, spasticity, and dysarthria syndrome" "" + "neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures" "" + "glaucoma, primary closed-angle" "" + "proteinuria, chronic benign" "" + "congenital disorder of glycosylation, type iit" "" + "pseudo-TORCH syndrome 3" "" + "Liberfarb syndrome" "A progressive disorder involving connective tissue, bone, retina, ear, and brain, characterized by early-onset retinal degeneration, sensorineural hearing loss, microcephaly, intellectual disability, and skeletal dysplasia with scoliosis and short stature." "" + "neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity" "" + "microcephaly, developmental delay, and brittle hair syndrome" "" + "harderoporphyria" "" + "46,xx sex reversal 5" "" + "intellectual developmental disorder with autistic features and language delay, with or without seizures" "" + "developmental and epileptic encephalopathy, 86" "" + "sorbitol dehydrogenase deficiency with peripheral neuropathy" "" + "Fanconi renotubular syndrome 5" "" + "neurodevelopmental, jaw, eye, and digital syndrome" "" + "hearing loss, autosomal dominant 77" "" + "developmental and epileptic encephalopathy, 87" "" + "neurodevelopmental disorder with language impairment and behavioral abnormalities" "" + "periventricular nodular heterotopia 9" "" + "arrhythmogenic right ventricular dysplasia, familial, 14" "" + "neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities" "" + "episodic ataxia, type 9" "" + "agenesis of corpus callosum, cardiac, ocular, and genital syndrome" "" + "granulomatous disease, chronic, autosomal recessive, 5" "" + "treacher collins syndrome 4" "" + "hyper-IgE recurrent infection syndrome 5, autosomal recessive" "" + "heterotaxy, visceral, 9, autosomal, with male infertility" "" + "retinitis pigmentosa 89" "" + "developmental and epileptic encephalopathy, 88" "" + "Mitchell syndrome" "" + "spondylometaphyseal dysplasia with corneal dystrophy" "" + "vertebral, cardiac, renal, and limb defects syndrome 3" "" + "diabetes mellitus, permanent neonatal 2" "" + "diabetes mellitus, permanent neonatal 3" "" + "diabetes mellitus, permanent neonatal 4" "" + "galactosemia 4" "" + "silver-russell syndrome 2" "" + "silver-russell syndrome 4" "" + "oculopharyngodistal myopathy 2" "" + "pontocerebellar hypoplasia, type 14" "" + "pontocerebellar hypoplasia, type 15" "" + "pontocerebellar hypoplasia, type 1E" "" + "pontocerebellar hypoplasia, type 1F" "" + "leukodystrophy, hypomyelinating, 21" "" + "immunodeficiency 80 with or without congenital cardiomyopathy" "" + "developmental and epileptic encephalopathy 6B" "" + "lymphatic malformation 9" "" + "arthrogryposis multiplex congenita 6" "" + "angioedema, hereditary, 5" "" + "megacystis-microcolon-intestinal hypoperistalsis syndrome 3" "" + "megacystis-microcolon-intestinal hypoperistalsis syndrome 4" "" + "angioedema, hereditary, 8" "" + "cardiomyopathy, dilated, 2D" "" + "immunodeficiency 81" "" + "spermatogenic failure 55" "" + "immunodeficiency 82 with systemic inflammation" "" + "Leber hereditary optic neuropathy, autosomal recessive" "" + "combined oxidative phosphorylation deficiency 52" "" + "spinocerebellar ataxia, autosomal recessive 29" "" + "encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 10" "" + "inflammatory bowel disease (infantile ulcerative colitis) 31, autosomal recessive" "" + "lymphatic malformation 11" "" + "cardiomyopathy, familial hypertrophic, 28" "" + "spinocerebellar ataxia, autosomal recessive 30" "" + "spinocerebellar ataxia, autosomal recessive 31" "" + "mitochondrial dna depletion syndrome 16B (neuroophthalmic type)" "" + "megacystis-microcolon-intestinal hypoperistalsis syndrome 5" "" + "cardiomyopathy, familial restrictive, 6" "" + "Ritscher-Schinzel syndrome 4" "" + "ciliary dyskinesia, primary, 46" "" + "immunodeficiency 84" "" + "encephalitis, acute, infection (viral)-induced, susceptibility to, 11" "" + "diarrhea 12, with microvillus atrophy" "" + "cutis laxa, autosomal recessive, type 2E" "" + "anencephaly 2" "" + "microcephaly 28, primary, autosomal recessive" "" + "myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive" "" + "ciliary dyskinesia, primary, 47, and lissencephaly" "" + "Joubert syndrome 38" "" + "facioscapulohumeral muscular dystrophy 3, digenic" "" + "facioscapulohumeral muscular dystrophy 4, digenic" "" + "short-rib thoracic dysplasia 21 without polydactyly" "" + "cholestasis, progressive familial intrahepatic, 6" "" + "Aicardi-Goutieres syndrome 8" "" + "Aicardi-Goutieres syndrome 9" "" + "cardiomyopathy, dilated, 2E" "" + "Klebsiella pneumonia" "An pneumonia caused by infection with Klebsiella." "" + "cystic partially differentiated nephroblastoma" "A variant of Wilms tumor of the kidney characterized by the presence of cystic spaces separated by septa. The septa contain immature epithelial cells, immature stromal cells, and blastema cells. Surgical resection is usually curative." "" + "autoimmune atherosclerosis" "An autoimmune form of atherosclerosis." "" + "Trichomonas prostatitis" "Infection of the prostate gland caused by Trichomonas vaginalis." "" + "Trichomonas cystitis" "An cystitis caused by infection with Trichomonas vaginalis." "" + "Trichomonas balanoposthitis" "" + "Trichomonas cervicitis" "An cervicitis (disease) caused by infection with Trichomonas vaginalis." "" + "trichomonal vulvovaginitis" "An vulvovaginitis caused by infection with Trichomonas vaginalis." "" + "monosomy 7 myelodysplasia and leukemia syndrome 2" "" + "developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy" "" + "neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities" "" + "mismatch repair cancer syndrome 2" "" + "mismatch repair cancer syndrome 3" "" + "mismatch repair cancer syndrome 4" "" + "spermatogenic failure 47" "" + "spermatogenic failure 48" "" + "arthrogryposis, distal, type 1C" "" + "intellectual developmental disorder with speech delay and axonal peripheral neuropathy" "" + "neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities" "" + "combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1" "" + "combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2" "" + "developmental and epileptic encephalopathy 89" "" + "immunodeficiency 75" "" + "COACH syndrome 2" "" + "neuronopathy, distal hereditary motor, type 5C" "Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the BSCL2 gene." "" + "osteogenesis imperfecta, type 21" "" + "COACH syndrome 3" "" + "Ritscher-Schinzel syndrome 3" "" + "neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities" "" + "thrombocytopenia 7" "" + "spermatogenic failure 49" "" + "spermatogenic failures 50" "" + "premature ovarian failure 17" "" + "vertebral hypersegmentation and orofacial anomalies" "" + "frontotemporal dementia and/or amyotrophic lateral sclerosis 8" "" + "cardiofacioneurodevelopmental syndrome" "" + "frontotemporal dementia and/or amyotrophic lateral sclerosis 5" "" + "cardioacrofacial dysplasia 1" "" + "cardioacrofacial dysplasia" "" + "cardioacrofacial dysplasia 2" "" + "Kaya-Barakat-Masson syndrome" "" + "mandibuloacral dysplasia progeroid syndrome" "" + "carpal tunnel syndrome 2" "" + "amyotrophic lateral sclerosis 26 with or without frontotemporal dementia" "" + "leukoencephalopathy, progressive, infantile-onset, with or without deafness" "" + "AMED syndrome, digenic" "" + "nephrotic syndrome, type 22" "" + "chromosome 13q33-q34 deletion syndrome" "" + "Lessel-Kreienkamp syndrome" "" + "immunodeficiency 76" "" + "oculocutaneous albinism type 8" "" + "intellectual developmental disorder with paroxysmal dyskinesia or seizures" "" + "mitochondrial complex 1 deficiency, nuclear type 36" "" + "Hermansky-Pudlak syndrome 11" "" + "hearing loss, autosomal recessive 117" "" + "Trichomonas tenax infectious disease" "An disease or disorder caused by infection with Trichomonas tenax." "" + "intellectual disability, X-linked 106" "" + "intellectual disability, X-linked, syndromic, 35" "" + "intellectual disability, X-linked, syndromic, Houge type" "" + "intellectual disability, autosomal dominant 45" "" + "intellectual disability, autosomal dominant 46" "" + "intellectual disability, autosomal dominant 47" "" + "intellectual disability, autosomal dominant 48" "" + "Clark-Baraitser syndrome" "" + "intellectual disability, autosomal recessive 61" "An autosomal recessive non-syndromic intellectual disability that has material basis in an autosomal recessive mutation of the RUSC2 gene on chromosome 9p13." "" + "intellectual disability, autosomal dominant 50" "" + "intellectual disability, autosomal dominant 51" "" + "intellectual disability, autosomal dominant 52" "" + "intellectual disability, autosomal dominant 53" "" + "intellectual disability, autosomal dominant 54" "" + "intellectual disability, autosomal dominant 55, with seizures" "" + "intellectual disability, autosomal dominant 56" "" + "proteasome-associated autoinflammatory syndrome 5" "" + "oocyte maturation defect 10" "" + "spermatogenic failure 51" "" + "myofibrillar myopathy 11" "" + "microcephaly 26, primary, autosomal dominant" "" + "microcephaly 27, primary, autosomal dominant" "" + "neurodevelopmental disorder with or without early-onset generalized epilepsy" "" + "proteasome-associated autoinflammatory syndrome 4" "" + "Joubert syndrome 37" "" + "intellectual developmental disorder, autosomal dominant 64" "" + "mitochondrial complex 2 deficiency, nuclear type 2" "" + "mitochondrial complex II deficiency, nuclear type" "" + "epilepsy, progressive myoclonic, 12" "" + "mitochondrial complex 2 deficiency, nuclear type 3" "" + "spermatogenic failure 52" "" + "premature ovarian failure 18" "" + "erythrokeratodermia variabilis et progressiva 7" "" + "neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities" "" + "short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2" "" + "short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies" "" + "Olmsted syndrome 2" "" + "nephrotic syndrome, type 23" "" + "Li-Campeau syndrome" "" + "obsolete olmsted syndrome 2" "" "true" + "neurofacioskeletal syndrome with or without renal agenesis" "" + "deafness, congenital, and adult-onset progressive leukoencephalopathy" "" + "immunodeficiency 78 with autoimmunity and developmental delay" "" + "immunodeficiency 77" "" + "mitochondrial complex 2 deficiency, nuclear type 4" "" + "oculomotor-abducens synkinesis" "" + "neuropathy, hereditary motor, with myopathic features" "" + "endove syndrome, limb-only type" "" + "endove syndrome, limb-brain type" "" + "immunodeficiency 79" "" + "sulfide quinone oxidoreductase deficiency" "" + "premature ovarian failure 19" "" + "blistering, acantholytic, of oral and laryngeal mucosa" "" + "vertebral, cardiac, tracheoesophageal, renal, and limb defects" "" + "developmental delay with dysmorphic facies and dental anomalies" "" + "spermatogenic failure 53" "" + "Kohlschutter-Tonz syndrome-like" "" + "bile acid conjugation defect 1" "" + "short stature, oligodontia, dysmorphic facies, and motor delay" "" + "neurodevelopmental disorder with or without autism or seizures" "" + "global developmental delay with speech and behavioral abnormalities" "" + "bleeding disorder, platelet-type, 24" "" + "mitochondrial complex 1 deficiency, nuclear type 37" "" + "hearing loss, autosomal dominant 80" "" + "neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism" "" + "vitreoretinopathy with phalangeal epiphyseal dysplasia" "" + "Baralle-Macken syndrome" "" + "hypercholanemia, familial, 2" "" + "hypercholanemia, familial" "" + "neurodegeneration with ataxia and late-onset optic atrophy" "" + "spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis" "" + "nephrotic syndrome, type 24" "" + "Glanzmann thrombasthenia 2" "" + "Glanzmann thrombasthenia" "" + "odontochondrodysplasia 2 with hearing loss and diabetes" "" + "odontochondrodysplasia" "" + "neurodevelopmental disorder with dysmorphic facies and variable seizures" "" + "autoimmune uveitis" "An autoimmune form of uveitis (disease)." "" + "autoimmune optic neuritis" "An autoimmune form of optic neuritis." "" + "autoimmune gastritis" "Inflammation of the body fundic mucosa of the stomach. It results from the development of autoantibodies against the parietal and chief cells. It is associated with the presence of intestinal metaplasia and an increased risk of developing gastric carcinoma." "" + "Glanzmann thrombasthenia 1" "A bleeding syndrome characterized by spontaneous mucocutaneous bleeding and an exaggerated response to trauma due to a constitutional thrombocytopenia" "" + "hypercholanemia, familial 1" "A very rare genetic disorder characterized clinically by elevated serum bile acid concentrations, itching, and fat malabsorption reported in patients of Old Order Amish descent." "" + "intellectual developmental disorder 61" "" + "spinocerebellar ataxia 48" "" + "hennekam lymphangiectasia-lymphedema syndrome 3" "" + "ophthalmoplegia, external, with rib and vertebral anomalies" "" + "squalene synthase deficiency" "" + "isolated growth hormone deficiency, type 4" "" + "intellectual developmental disorder with macrocephaly, seizures, and speech delay" "" + "isolated growth hormone deficiency, type 5" "" + "Joubert syndrome 35" "" + "spondyloepimetaphyseal dysplasia, Krakow type" "" + "cardiac, facial, and digital anomalies with developmental delay" "" + "bone marrow failure syndrome 5" "" + "osteochondrodysplasia, brachydactyly, and overlapping malformed digits" "" + "diarrhea 9" "" + "" "true" + "neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures" "Autosomal recessive neurodegenerative disorder with onset in the first years of life following normal early development, with cyclic episodic deterioration in response to stress, such as infection or febrile illness. The severity is highly variable. The cause is mutations in the ADPRHL2 gene." "" + "retinitis pigmentosa 83" "" + "cortical dysplasia, complex, with other brain malformations 9" "" + "warburg-cinotti syndrome" "" + "nephrotic syndrome, type 17" "" + "nephrotic syndrome, type 18" "" + "nephrotic syndrome, type 19" "" + "microcephaly 24, primary, autosomal recessive" "" + "ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis" "" + "diarrhea 10, protein-losing enteropathy type" "" + "periventricular nodular heterotopia 8" "" + "ovarian dysgenesis 8" "" + "hyperparathyroidism, transient neonatal" "" + "cardiomyopathy, dilated, 2c" "" + "intellectual developmental disorder and retinitis pigmentosa; IDDRP" "" + "myasthenic syndrome, congenital, 23, presynaptic" "" + "myasthenic syndrome, congenital, 24, presynaptic" "" + "developmental and epileptic encephalopathy, 68" "" + "immunodeficiency 15a" "" + "Snijders Blok-Campeau syndrome" "" + "inflammatory bowel disease, immunodeficiency, and encephalopathy" "" + "polydactyly, postaxial, type A9" "" + "retinitis pigmentosa 84" "" + "intellectual disability, autosomal recessive 66" "" + "mitochondrial complex 1 deficiency, nuclear type 2" "" + "vertebral anomalies and variable endocrine and T-cell dysfunction" "" + "mitochondrial complex 1 deficiency, nuclear type 3" "" + "mitochondrial complex 1 deficiency, nuclear type 4" "" + "mitochondrial complex 1 deficiency, nuclear type 5" "" + "mitochondrial complex 1 deficiency, nuclear type 6" "" + "mitochondrial complex 1 deficiency, nuclear type 7" "" + "mitochondrial complex 1 deficiency, nuclear type 8" "" + "epidermodysplasia verruciformis, susceptibility to, 2" "" + "mitochondrial complex 1 deficiency, nuclear type 9" "" + "mitochondrial complex 1 deficiency, nuclear type 10" "" + "mitochondrial complex 1 deficiency, nuclear type 11" "" + "mitochondrial complex 1 deficiency, nuclear type 13" "" + "mitochondrial complex 1 deficiency, nuclear type 14" "" + "mitochondrial complex 1 deficiency, nuclear type 15" "" + "mitochondrial complex 1 deficiency, nuclear type 16" "" + "mitochondrial complex 1 deficiency, nuclear type 17" "" + "mitochondrial complex 1 deficiency, nuclear type 18" "" + "mitochondrial complex 1 deficiency, nuclear type 19" "" + "mitochondrial complex 1 deficiency, nuclear type 21" "" + "mitochondrial complex 1 deficiency, nuclear type 22" "" + "mitochondrial complex 1 deficiency, nuclear type 23" "" + "mitochondrial complex 1 deficiency, nuclear type 24" "" + "mitochondrial complex 1 deficiency, nuclear type 25" "" + "mitochondrial complex 1 deficiency, nuclear type 26" "" + "mitochondrial complex 1 deficiency, nuclear type 27" "" + "mitochondrial complex 1 deficiency, nuclear type 28" "" + "mitochondrial complex 1 deficiency, nuclear type 29" "" + "mitochondrial complex 1 deficiency, nuclear type 31" "" + "mitochondrial complex 1 deficiency, nuclear type 32" "" + "mitochondrial complex 1 deficiency, nuclear type 33" "" + "ciliary dyskinesia, primary, 39" "" + "hearing loss, autosomal recessive 112" "" + "mirror movements 4" "" + "arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development" "" + "pontocerebellar hypoplasia, type 12" "" + "epidermodysplasia verruciformis, susceptibility to, 3" "" + "trichohepatoneurodevelopmental syndrome" "" + "congenital anomalies of kidney and urinary tract 3" "" + "global developmental delay, lung cysts, overgrowth, and wilms tumor" "" + "mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations" "" + "hypotrichosis 14" "" + "neurodegeneration, childhood-onset, with cerebellar atrophy" "" + "fibrosis, neurodegeneration, and cerebral angiomatosis" "" + "cardiac-urogenital syndrome" "" + "hyper-IgE recurrent infection syndrome 3, autosomal recessive" "" + "visual impairment and progressive phthisis bulbi" "" + "microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum" "" + "developmental and epileptic encephalopathy, 69" "" + "macrocephaly, acquired, with impaired intellectual development" "" + "mucocutaneous ulceration, chronic" "" + "spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant" "" + "neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia" "" + "intellectual developmental disorder, autosomal recessive 67" "" + "developmental and epileptic encephalopathy, 70" "" + "ciliary dyskinesia, primary, 40" "" + "intellectual developmental disorder, autosomal recessive 68" "" + "epidermodysplasia verruciformis, susceptibility to, 4" "" + "epidermodysplasia verruciformis, susceptibility to, 5" "" + "Diamond-Blackfan anemia 18" "" + "Diamond-Blackfan anemia 19" "" + "Diamond-Blackfan anemia 20" "" + "intellectual developmental disorder with cardiac defects and dysmorphic facies" "" + "basal ganglia calcification, idiopathic, 7, autosomal recessive" "" + "myasthenic syndrome, congenital, 25, presynaptic" "" + "lissencephaly 9 with complex brainstem malformation" "" + "developmental and epileptic encephalopathy, 71" "" + "glutaminase deficiency" "Glutaminase deficiency is characterized by refractory seizures, respiratory failure, brain abnormalities and death in the neonatal period, though milder cases with spastic ataxia-dysarthria have also been reported. This condition is caused by mutations in the glutaminase (GLS) gene." "" + "combined oxidative phosphorylation deficiency 37" "" + "global developmental delay with or without impaired intellectual development" "" + "encephalopathy, progressive, early-onset, with episodic rhabdomyolysis" "" + "intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency" "" + "infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development" "" + "spermatogenic failure 35" "" + "intellectual developmental disorder with abnormal behavior, microcephaly, and short stature" "" + "polymicrogyria with or without vascular-type ehlers-danlos syndrome" "" + "retinitis pigmentosa 85" "" + "microcephaly, growth deficiency, seizures, and brain malformations" "" + "Galloway-Mowat syndrome 6" "" + "Galloway-Mowat syndrome 7" "" + "Galloway-Mowat syndrome 8" "" + "microcephaly 25, primary, autosomal recessive" "" + "oocyte maturation defect 6" "" + "neurodevelopmental disorder and language delay with or without structural brain abnormalities" "" + "neurodevelopmental disorder with central and peripheral motor dysfunction" "" + "epilepsy, idiopathic generalized, susceptibility to, 15" "" + "Coffin-Siris syndrome 8" "" + "short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis" "" + "neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination" "" + "spinocerebellar ataxia, autosomal recessive 27" "" + "turnpenny-fry syndrome" "" + "developmental and epileptic encephalopathy, 72" "" + "combined oxidative phosphorylation deficiency 38" "" + "facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome" "" + "intellectual developmental disorder, autosomal recessive 69" "" + "leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate" "" + "amelogenesis imperfecta, type 3c" "" + "spondyloepiphyseal dysplasia, kondo-fu type" "" + "immunodeficiency 60" "" + "spondyloepimetaphyseal dysplasia with joint laxity, type 3" "" + "developmental and epileptic encephalopathy, 74" "" + "combined oxidative phosphorylation deficiency 39" "" + "Charcot-Marie-Tooth disease, axonal, type 2EE" "" + "intellectual developmental disorder, autosomal recessive 70" "" + "leukodystrophy, hypomyelinating, 18" "" + "hearing loss, autosomal recessive 113" "" + "global developmental delay, progressive ataxia, and elevated glutamine" "" + "cataract 48" "" + "metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression" "" + "spastic paraplegia 80, autosomal dominant" "" + "gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy" "" + "spermatogenic failure 36" "" + "hearing loss, autosomal recessive 100" "" + "neurodevelopmental disorder with impaired speech and hyperkinetic movements" "" + "encephalopathy, acute, infection-induced, susceptibility to, 9" "" + "spermatogenic failure 37" "" + "developmental delay with variable intellectual impairment and behavioral abnormalities" "" + "hydatidiform mole, recurrent, 3" "" + "hydatidiform mole, recurrent, 4" "" + "spermatogenic failure 38" "" + "hearing loss, autosomal recessive 94" "" + "arthrogryposis, distal, type 2B2" "" + "arthrogryposis, distal, type 2B3" "" + "developmental and epileptic encephalopathy, 75" "" + "spastic ataxia 9, autosomal recessive" "" + "neurodevelopmental disorder with or without variable brain abnormalities; NEDBA" "" + "long qt syndrome 8" "" + "ciliary dyskinesia, primary, 41" "" + "neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia" "" + "intellectual developmental disorder with short stature and variable skeletal anomalies" "" + "developmental delay with or without dysmorphic facies and autism" "" + "hearing loss, autosomal recessive 114" "" + "hearing loss, autosomal recessive 115" "" + "immunodeficiency 62" "" + "Khan-Khan-Katsanis syndrome" "" + "bleeding disorder, platelet-type, 22" "" + "hypoalphalipoproteinemia, primary, 2" "" + "paragangliomas 6" "" + "developmental and epileptic encephalopathy, 76" "" + "intellectual developmental disorder with severe speech and ambulation defects" "" + "paragangliomas 7" "" + "brain abnormalities, neurodegeneration, and dysosteosclerosis" "" + "uridine-cytidineuria" "" + "cerebellar, ocular, craniofacial, and genital syndrome" "" + "neurodevelopmental disorder with seizures and speech and walking impairment" "" + "hearing loss, autosomal recessive 99" "" + "generalized epilepsy with febrile seizures plus, type 10" "" + "arthrogryposis multiplex congenita 3, myogenic type" "" + "neurodevelopmental disorder with microcephaly and structural brain anomalies" "" + "hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities" "" + "congenital hypotonia, epilepsy, developmental delay, and digital anomalies" "" + "immunodeficiency 63 with lymphoproliferation and autoimmunity" "" + "aortic valve disease 3" "" + "neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements" "" + "polydactyly, postaxial, type a10" "" + "Noonan syndrome 11" "" + "holoprosencephaly 12 with or without pancreatic agenesis" "" + "cerebellar atrophy with seizures and variable developmental delay" "" + "intellectual developmental disorder, autosomal recessive 71" "" + "neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities" "" + "Coffin-Siris syndrome 10" "" + "neuropathy, hereditary motor and sensory, type VIc, with optic atrophy" "" + "O'Donnell-Luria-Rodan syndrome" "" + "leber congenital amaurosis 19" "" + "intellectual developmental disorder 59" "" + "hyper-ige recurrent infection syndrome 4, autosomal recessive" "" + "myopathy, congenital, with tremor" "" + "ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features" "" + "mitochondrial DNA depletion syndrome 16 (hepatic type)" "" + "robinow syndrome, autosomal recessive 2" "" + "erythrokeratodermia variabilis et progressiva 6" "" + "hearing loss, autosomal dominant 37" "" + "immunodeficiency 64" "" + "ectodermal dysplasia 15, hypohidrotic/hair type" "" + "hypopigmentation, organomegaly, and delayed myelination and development" "" + "trichothiodystrophy 7, nonphotosensitive" "" + "neurodevelopmental disorder with visual defects and brain anomalies" "" + "developmental and epileptic encephalopathy, 77" "" + "hepatitis, fulminant viral, susceptibility to" "" + "oocyte maturation defect 7" "" + "night blindness, congenital stationary, type1i" "" + "developmental and epileptic encephalopathy, 78" "" + "developmental and epileptic encephalopathy, 79" "" + "microangiopathy and leukoencephalopathy, pontine, autosomal dominant" "" + "mitochondrial DNA depletion syndrome 17" "" + "neurodevelopmental disorder with ataxia, hypotonia, and microcephaly" "" + "neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies" "" + "neurodevelopmental disorder with cerebellar hypoplasia and spasticity" "" + "hypothyroidism, congenital, nongoitrous, 7" "" + "neurodevelopmental disorder with structural brain anomalies and dysmorphic facies" "" + "myopathy, congenital, progressive, with scoliosis" "" + "developmental and epileptic encephalopathy, 80" "" + "intellectual developmental disorder 60 with seizures" "" + "glycosylphosphatidylinositol biosynthesis defect 21" "" + "nephrotic syndrome, type 21" "" + "epilepsy, idiopathic generalized, susceptibility to, 16" "" + "spastic tetraplegia and axial hypotonia, progressive" "" + "neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities" "" + "snijders blok-fisher syndrome" "" + "pontocerebellar hypoplasia, type 13" "" + "intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies" "" + "lower urinary tract obstruction, congenital" "" + "retinitis pigmentosa 86" "" + "spondyloepiphyseal dysplasia, nishimura type" "" + "weiss-kruszka syndrome" "" + "abdominal obesity-metabolic syndrome 4" "" + "neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies" "" + "noonan syndrome 12" "" + "" "true" + "Usher syndrome, type 1M" "" + "siddiqi syndrome" "" + "oculopharyngeal myopathy with leukoencephalopathy 1" "" + "infantile liver failure syndrome 3" "" + "spermatogenic failure 39" "" + "osteogenesis imperfecta, type 20" "" + "immunodeficiency 65, susceptibility to viral infections" "" + "neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies" "" + "neurooculocardiogenitourinary syndrome" "" + "intellectual developmental disorder with impaired language and dysmorphic facies" "" + "myopathy, congenital, with structured cores and z-line abnormalities" "" + "myopathy, distal, 6, adult-onset, autosomal dominant" "" + "zimmermann-laband syndrome 3" "" + "neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies" "" + "" "true" + "diarrhea 11, malabsorptive, congenital" "" + "developmental and epileptic encephalopathy, 81" "" + "spermatogenic failure 40" "" + "intellectual developmental disorder, autosomal recessive 72" "" + "hydrocephalus, congenital communicating, 1" "" + "spermatogenic failure 41" "" + "intellectual developmental disorder with speech delay, autism, and dysmorphic facies" "" + "pulmonary fibrosis and/or bone marrow failure, telomere-related, 5" "" + "cortical dysplasia, complex, with other brain malformations 10" "" + "pancreatic cancer, susceptibility to, 5" "" + "lessel-kubisch syndrome" "" + "mitochondrial complex 5 (ATP synthase) deficiency, nuclear type 6" "" + "intellectual developmental disorder with short stature and behavioral abnormalities" "" + "leukodystrophy, hypomyelinating, 19, transient infantile" "" + "ciliary dyskinesia, primary, 42" "" + "retinitis pigmentosa 87 with choroidal involvement" "" + "dominant RPE65 retinopathy" "A retinopathy caused by a heterozygous gain of function variant in the RPE65 gene." "" + "ciliary dyskinesia, primary, 43" "" + "short stature and microcephaly with genital anomalies" "" + "neurodevelopmental disorder with absent language and variable seizures" "" + "neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures" "" + "neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia" "" + "megabladder, congenital" "" + "developmental and epileptic encephalopathy, 82" "" + "premature ovarian failure 16" "" + "Heyn-Sproul-Jackson syndrome" "" + "intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures" "" + "ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies" "" + "spondyloepimetaphyseal dysplasia, Isidor-Toutain type" "" + "Liang-Wang syndrome" "" + "neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity" "" + "neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies" "" + "Poirier-Bienvenu neurodevelopmental syndrome" "" + "neuromuscular disease and ocular or auditory anomalies with or without seizures" "" + "aneurysm, intracranial berry, 12" "" + "structural brain anomalies with impaired intellectual development and craniosynostosis" "" + "pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures" "" + "neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy" "" + "developmental and epileptic encephalopathy, 83" "" + "spermatogenic failure 42" "" + "intellectual developmental disorder with hypotonia and behavioral abnormalities" "" + "spermatogenic failure 43" "" + "neutropenia, severe congenital, 8, autosomal dominant" "" + "neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements" "" + "Catifa syndrome" "" + "Joubert syndrome 36" "" + "arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum" "" + "corneal dystrophy, Meesmann, 2" "" + "spastic paraplegia 81, autosomal recessive" "" + "spastic paraplegia 82, autosomal recessive" "" + "lymphatic malformation 8" "" + "CEBALID syndrome" "" + "mitochondrial complex 3 deficiency, nuclear type 10" "" + "mitochondrial complex 1 deficiency, nuclear type 34" "" + "hearing loss, autosomal dominant 75" "" + "Coffin-Siris syndrome 11" "" + "congenital heart defects, multiple types, 7" "" + "ciliary dyskinesia, primary, 44" "" + "long QT syndrome 16" "" + "Imagawa-Matsumoto syndrome" "" + "hearing loss, autosomal dominant 76" "" + "developmental and epileptic encephalopathy, 84" "" + "intellectual developmental disorder 62" "" + "juvenile arthritis due to defect in LACC1" "" + "neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation" "" + "Beck-Fahrner syndrome" "" + "spinocerebellar ataxia, autosomal recessive 28" "" + "ciliary dyskinesia, primary, 45" "" + "respiratory papillomatosis, juvenile recurrent, congenital" "" + "sandestig-stefanova syndrome" "" + "triokinase and FMN cyclase deficiency syndrome" "" + "T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant" "" + "intellectual developmental disorder with poor growth and with or without seizures or ataxia" "" + "pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal" "" + "mitochondrial DNA depletion syndrome 18" "" + "chromosome 1p36.33 duplication syndrome, atad3 gene cluster, autosomal dominant" "" + "genitourinary and/or brain malformation syndrome" "" + "rhizomelic limb shortening with dysmorphic features" "" + "myopathy, congenital, with respiratory insufficiency and bone fractures" "" + "myopathy, congenital proximal, with minicore lesions" "" + "basal ganglia calcification, idiopathic, 8, autosomal recessive" "" + "intellectual developmental disorder, autosomal dominant 63, with macrocephaly" "" + "retinitis pigmentosa 88" "" + "myopia 27" "" + "neurodevelopmental disorder with microcephaly and dysmorphic facies" "" + "neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies" "" + "polycystic kidney disease 4" "A autosomal dominant polycystic kidney disease that has material basis in mutation in the PKD4 gene." "" + "Galloway-Mowat syndrome 1" "" + "Galloway-Mowat syndrome 2, X-linked" "" + "Galloway-Mowat syndrome 3" "" + "Galloway-Mowat syndrome 4" "" + "Galloway-Mowat syndrome 5" "" + "erythrokeratodermia variabilis et progressiva 1" "" + "erythrokeratodermia variabilis et progressiva 2" "" + "erythrokeratodermia variabilis et progressiva 3" "" + "erythrokeratodermia variabilis et progressiva 4" "" + "erythrokeratodermia variabilis et progressiva 5" "" + "spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy" "" + "Meckel syndrome 13" "" + "orofaciodigital syndrome 16" "" + "Meier-Gorlin syndrome 8" "" + "Perrault syndrome 6" "" + "ichthyosis, congenital, autosomal recessive 14" "" + "ichthyosis, congenital, autosomal recessive 13" "" + "spinocerebellar ataxia, autosomal recessive 25" "" + "spinocerebellar ataxia, autosomal recessive 26" "" + "exudative vitreoretinopathy 7" "" + "Charcot-Marie-Tooth disease, demyelinating, type 1G" "A rare autosomal dominant hereditary demyelinating motor and sensory neuropathy characterized by progressive distal muscle weakness and atrophy, distal sensory impairment, and decreased or absent reflexes in the affected limbs, with an onset in the first or second decade of life. Median motor nerve conduction velocities are typically less than 38 m/s. Patients often have foot deformities. Sural nerve biopsy shows decrease in myelinated fibers, myelin abnormalities, and onion bulb formation. Fatty replacement of muscle tissue predominantly affects the anterior and lateral compartment of the lower legs." "" + "combined oxidative phosphorylation defect type 29" "" + "obsolete skin/hair/eye pigmentation, variation in" "" "true" + "hearing loss, autosomal recessive 106" "" + "hearing loss, autosomal recessive 107" "" + "hearing loss, autosomal recessive 108" "" + "hearing loss, autosomal recessive 57" "" + "hearing loss, autosomal recessive 109" "" + "nephrotic syndrome 14" "" + "ciliary dyskinesia, primary, 37" "" + "hearing loss, autosomal dominant 71" "" + "hearing loss, autosomal dominant 72" "" + "hearing loss, autosomal dominant 73" "" + "hearing loss, autosomal dominant 34, with or without inflammation" "" + "nephrotic syndrome 15" "" + "nephrotic syndrome 16" "" + "polycystic kidney disease 5" "Any polycystic kidney disease in which the cause of the disease is a mutation in the DZIP1L gene." "" + "multiple mitochondrial dysfunctions syndrome 5" "" + "Joubert syndrome 30" "" + "Joubert syndrome 32" "" + "Joubert syndrome 31" "" + "Joubert syndrome 33" "" + "schizophrenia 19" "" + "developmental and epileptic encephalopathy, 52" "" + "developmental and epileptic encephalopathy, 53" "" + "developmental and epileptic encephalopathy, 54" "" + "developmental and epileptic encephalopathy, 55" "" + "developmental and epileptic encephalopathy, 56" "" + "developmental and epileptic encephalopathy, 57" "" + "developmental and epileptic encephalopathy, 58" "" + "developmental and epileptic encephalopathy, 59" "" + "developmental and epileptic encephalopathy, 60" "" + "developmental and epileptic encephalopathy, 61" "" + "developmental and epileptic encephalopathy, 62" "" + "developmental and epileptic encephalopathy, 63" "" + "developmental and epileptic encephalopathy, 64" "" + "developmental and epileptic encephalopathy, 65" "" + "orofaciodigital syndrome 17" "" + "spinocerebellar ataxia 44" "" + "spinocerebellar ataxia 45" "" + "spinocerebellar ataxia 46" "" + "spinocerebellar ataxia 47" "" + "erythrocytosis, familial, 5" "Any familial polycythemia in which the cause of the disease is a mutation in the EPO gene." "" + "short-rib thoracic dysplasia 19 with or without polydactyly" "" + "leukodystrophy, hypomyelinating, 14" "" + "Coffin-Siris syndrome 6" "" + "fibromatosis, gingival, 5" "" + "Suleiman-El-Hattab syndrome" "" + "combined oxidative phosphorylation deficiency 45" "" + "combined oxidative phosphorylation deficiency 46" "" + "combined oxidative phosphorylation deficiency 47" "" + "immunodeficiency 69" "" + "immunodeficiency 70" "" + "cone-rod synaptic disorder syndrome, congenital nonprogressive" "" + "Tolchin-Le Caignec syndrome" "" + "mitochondrial DNA depletion syndrome 19" "" + "neurodegeneration, infantile-onset, biotin-responsive" "" + "Li-Ghorbani-Weisz-Hubshman syndrome" "" + "myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies" "" + "optic atrophy 12" "" + "obsolete high density lipoprotein cholesterol level quantitative trait locus 7" "" "true" + "immunodeficiency 72 with autoinflammation" "" + "blood group, lewis system" "" + "immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia" "" + "immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia" "" + "muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type b, 15" "" + "hemophagocytic lymphohistiocytosis, familial, 6" "" + "autoinflammation, immune dysregulation, and eosinophilia" "" + "intellectual developmental disorder with seizures and language delay" "" + "mitochondrial complex 1 deficiency, nuclear type 35" "" + "deeah syndrome" "" + "neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia" "" + "retinitis pigmentosa 90" "" + "oocyte maturation defect 8" "" + "oocyte maturation defect 9" "" + "combined oxidative phosphorylation deficiency 48" "" + "combined oxidative phosphorylation deficiency 49" "" + "combined oxidative phosphorylation deficiency 50" "" + "obsolete skeletal muscle glycogen content and metabolism quantitative trait locus" "" "true" + "intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies" "" + "neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities" "" + "spastic paraplegia 83, autosomal recessive" "" + "coenzyme q10 deficiency, primary, 9" "" + "Vissers-Bodmer syndrome" "" + "myopathy, epilepsy, and progressive cerebral atrophy" "" + "myofibrillar myopathy 10" "" + "spinal muscular atrophy, infantile, James type" "" + "spermatogenic failure 44" "" + "neurodevelopmental disorder with speech impairment and dysmorphic facies" "" + "combined oxidative phosphorylation deficiency 51" "" + "mitochondrial complex 4 deficiency, nuclear type 3" "" + "mitochondrial complex IV deficiency, nuclear-type" "" + "mitochondrial complex 4 deficiency, nuclear type 4" "" + "mitochondrial complex 4 deficiency, nuclear type 7" "" + "mitochondrial complex 4 deficiency, nuclear type 8" "" + "mitochondrial complex 4 deficiency, nuclear type 10" "" + "vitamin D-dependent rickets, type 3" "" + "cleft palate, proliferative retinopathy, and developmental delay" "" + "neurodevelopmental disorder with alopecia and brain abnormalities" "" + "inflammatory bowel disease 30" "" + "microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 1" "" + "mitochondrial complex 4 deficiency, nuclear type 11" "" + "mitochondrial complex 4 deficiency, nuclear type 12" "" + "mitochondrial complex 4 deficiency, nuclear type 14" "" + "mitochondrial complex 4 deficiency, nuclear type 15" "" + "mitochondrial complex 4 deficiency, nuclear type 16" "" + "mitochondrial complex 4 deficiency, nuclear type 17" "" + "mitochondrial complex 4 deficiency, nuclear type 18" "" + "mitochondrial complex 4 deficiency, nuclear type 19" "" + "mitochondrial complex 4 deficiency, nuclear type 20" "" + "mitochondrial complex 4 deficiency, nuclear type 21" "" + "leukodystrophy, hypomyelinating, 20" "" + "neurodevelopmental disorder with seizures and brain atrophy" "" + "neurodevelopmental disorder with microcephaly, seizures, and brain atrophy" "" + "Kilquist syndrome" "An autosomal recessive multisystem disorder characterized by neurologic, gastrointestinal, and secretory dysfunction. Affected individuals present at birth with hypotonia, feeding difficulties, mild dysmorphic features, and sensorineural hearing loss. They show poor overall growth associated with gastrointestinal anomalies such as gastroesophageal reflux or midgut malrotation, as well as profound global developmental delay with inability to sit or speak. Tear, sweat, and saliva production is also impaired, causing dry mouth and recurrent bronchial mucus plugging. Some of the clinical features are reminiscent of cystic fibrosis." "" + "hearing loss, autosomal dominant 78" "" + "Delpire-McNeill syndrome" "" + "hearing loss, autosomal dominant 79" "" + "Noonan syndrome 13" "" + "hearing loss, autosomal recessive 116" "" + "spermatogenic failure 45" "" + "Duane anomaly-myopathy-scoliosis syndrome" "Duane anomaly-myopathy-scoliosis syndrome is characterised by the association of bilateral Duane anomaly type 3, severe scoliosis of early onset, congenital myopathy with hypotonia without muscular weakness, delayed motor development, and short stature. It has been described in one pair of sibs. The Duane type 3 anomaly consists of eye abduction and adduction palsy, globe retraction and narrowing of the palpebral fissure. Muscular biopsy shows aspecific myopathy. Intellectual development is normal. The syndrome is most likely inherited in an autosomal recessive manner. It differs from the Crisfield-Dretakis-Sharpe syndrome, in which short stature and muscular features are absent. Surgery of the scoliosis is necessary. Functional prognosis depends on the severity of the visual handicap." "" + "spermatogenic failure 46" "" + "skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome" "" + "congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome" "" + "congenital cerebellar ataxia due to RNU12 mutation" "A rare hereditary ataxia characterized by delayed motor milestones in early infancy, hypotonia, ataxic gait, intention tremor, nystagmus, dysarthric speech, and variable learning difficulties. Neuroimaging shows a mixed picture of cerebellar hypoplasia and degeneration, with an almost absent inferior lobule and thinning of the folia of the vermis. In addition, cisterna magna and fourth ventricle are enlarged with relative sparing of the brain stem volume." "" + "isolated blepharochalasis" "" + "isolated iridoschisis" "" + "thygeson superficial punctate keratopathy" "An insidious, chronic and recurrent disorder, characterized by small and elevated oval corneal intraepithelial, whitish-gray opacities, extending to the entire anterior surface of the cornea of both eyes. Corneal lesions show a tendency for the central pupillary area distribution with mild or absent conjunctival inflammation and no association to systemic disease." "" + "Terrien marginal degeneration" "A distinct marginal thinning of the cornea which causes high degree of against-the-rule astigmatism" "" + "fungal keratitis" "" + "radiation-induced plexopathy" "" + "osteoradionecrosis of the mandible" "" + "osteoradionecrosis" "Necrosis of bone following radiation injury." "" + "autosomal recessive axonal charcot-marie-tooth disease due to copper metabolism defect" "" + "congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome" "" + "LAMA5-related multisystemic syndrome" "A rare genetic systemic or rheumatologic disease characterized by infantile onset of skin anomalies (such as delayed wound healing with atrophic scars and mild alopecia with dry and brittle hair), retinal rod degeneration with night blindness, degenerative myopathy with muscle weakness, myalgia, and cramps, osteoarthritis, joint laxity, prolapse of internal organs, floating kidney syndrome, malabsorption syndrome, and hypothyroidism. The phenotype has been reported to be more severe in women than in men. This is an n-of-1 use case where only one patient or family has been described with this disorder." "" + "primary autoimmune enteropathy" "" + "infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome" "" + "pediatric-onset Graves disease" "" + "prepubertal anorexia nervosa" "" + "obsolete hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome" "" "true" + "acquired angioedema with C1Inh deficiency" "" + "monoclonal mast cell activation syndrome" "" + "immune dysregulation with inflammatory bowel disease" "True" + "immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome" "" + "inflammatory bowel disease-recurrent sinopulmonary infections syndrome" "" + "RELA fusion-positive ependymoma" "" + "obsolete krt1-related diffuse nonepidermolytic keratoderma" "" "true" + "spondylodysplastic Ehlers-Danlos syndrome" "" + "Bethlem myopathy 2" "" + "kyphoscoliotic Ehlers-Danlos syndrome" "A rare systemic disease for which two subtypes exist, either related to the gene PLOD1 or FKBP22, and for which the clinically overlapping characteristics include congenital muscle hypotonia, congenital or early-onset kyphoscoliosis (progressive or non-progressive), and generalized joint hypermobility with dislocations/subluxations (in particular of the shoulders, hips, and knees). Additional features which may occur in both subtypes are skin hyperextensibility, easy bruising of the skin, rupture/aneurysm of a medium-sized artery, osteopenia/osteoporosis, blue sclerae, umbilical or inguinal hernia, chest deformity, marfanoid habitus, talipes equinovarus, and refractive errors. Gene-specific features, with variable presentation, are additionally observed in each subtype." "" + "congenital axonal neuropathy with encephalopathy" "A rare, congenital, autosomal recessive axonal hereditary motor and sensory neuropathy disease characterized by axonal neuropathy, manifesting at birth or shortly thereafter with generalized muscular hypotonia, prominently distal muscular weakness, respiratory/swallowing difficulties and diffuse areflexia, associated with central nervous system involvement, which includes progressive microcephaly, seizures, and global developmental delay. Additional variable manifestations include hearing impairment, ocular lesions, skeletal anomalies (e.g. talipes equinovarus, overriding toes, scoliosis, joint contractures), cryptorchidism, and dysmorphic features (such as coarse facies, hypertelorism, high-arched palate). Outcome is typically poor due to respiratory insufficiency and/or aspiration pneumonia." "" + "severe combined immunodeficiency due to CD70 deficiency" "" + "obsolete necrobiosis lipoidica" "" "true" + "optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome" "" + "SYNGAP1-related developmental and epileptic encephalopathy" "A rare genetic developmental and epileptic encephalopathy (DEE) characterized by developmental delay, generalized epilepsy consisting of eyelid myoclonia with absences and myoclonic-atonic seizures, intellectual disability and autism spectrum disorder (ASD)." "" + "infection-related hemolytic uremic syndrome" "" + "global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome" "" + "developmental and epileptic encephalopathy, 73" "" + "congenital myopathy with reduced type 2 muscle fibers" "" + "atypical Fanconi syndrome-neonatal hyperinsulinism syndrome" "" + "NAD(P)HX dehydratase deficiency" "" + "obsolete NAD(P)HX epimerase deficiency" "" "true" + "IgA pemphigus" "" + "pancreatic agenesis-holoprosencephaly syndrome" "" + "early-onset calcifying leukoencephalopathy-skeletal dysplasia" "" + "oculocerebrodental syndrome" "" + "spastic ataxia-dysarthria due to glutaminase deficiency" "" + "neonatal epileptic encephalopathy due to glutaminase deficiency" "" + "idiopathic gastroparesis" "" + "autosomal recessive extra-oral halitosis" "" + "primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome" "" + "syndromic congenital sodium diarrhea" "" + "methotrexate toxicity" "" + "resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha" "" + "primary desmosis coli" "A rare intestinal disease characterized by congenital partial or complete lack of the collagen mesh network in the intestinal wall, resulting in hypoperistalsis or aperistalsis. The enteric nervous system is normal or near-normal in the affected areas, although hypo- and dysganglionosis may be found in some proximal segments of the colon and/or small bowel. Patients present with chronic intractable slow transit constipation." "" + "iatrogenic Creutzfeldt-Jakob disease" "" + "intraductal tubulopapillary neoplasm of pancreas" "" + "serine biosynthesis pathway deficiency, infantile/juvenile form" "" + "isolated splenic vein thrombosis" "" + "isolated mesenteric vein thrombosis" "" + "acute myeloid leukemia with BCR-ABL1" "" + "PUM1-associated developmental disability-ataxia-seizure syndrome" "" + "myeloid/lymphoid neoplasm associated with JAK2 rearrangement" "" + "GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder" "" + "linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies" "" + "PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome" "" + "isolated melanotic schwannoma" "" + "localized dystrophic epidermolysis bullosa" "A localized form of dystrophic epidermolysis bullosa characterized by blisters confined primarily to the hands and feet (acral form) or to the pretibial region (pretibial form). Nail dystrophy or loss is common and may be an isolated finding (nail only form). This disease can be inherited via autosomal dominant or autosomal recessive inheritance." "" + "obsolete IgG4-related systemic disease" "" "true" + "portosinusoidal vascular disease" "" + "TRIM22-related inflammatory bowel disease" "Any inflammatory bowel disease in which the cause of the disease is a mutation in the TRIM22 gene." "True" + "obsolete IRF2BPL-related regressive neurodevelopmental disorder-dystonia-seizures syndrome" "" "true" + "obsolete MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome" "" "true" + "ALPI-related inflammatory bowel disease" "Any inflammatory bowel disease in which the cause of the disease is a mutation in the ALPI gene." "True" + "multisystem inflammatory syndrome in children and adults" "" + "post-COVID-19 disorder" "A SARS-CoV-2-related disease that is caused by infection by SARS-CoV-2, and manifests after the original primary infection." "" + "obsolete hypomyelination of early myelinating structures" "" "true" + "Mills syndrome" "A rare, acquired motor neuron disease characterized by a slowly progressive, unilateral, ascending or descending hemplegia, associated to unilateral or asymmetrical pyramidal signs and no sensory loss. It is a diagnosis of exclusion and contorversy exists regarding whether the presence of bulbar symptoms, sphincter disturbances, fasciculations or cognitive manifestations characterize the disease." "" + "retinitis pigmentosa 81" "" + "short-rib thoracic dysplasia 18 with polydactyly" "" + "Charcot-Marie-Tooth disease, dominant intermediate G" "" + "obsolete rare childhood malignant neoplasm" "An infrequent malignant neoplasm that occurs during childhood." "True" "true" + "axillary neoplasm" "A benign or malignant neoplasm that affects the structures of the axilla. Representative examples include axillary lipoma, axillary lymph node lymphoma, and metastatic carcinoma to the axillary lymph nodes." "" + "benign ovarian mucinous tumor" "A non-metastasizing neoplasm that arises from the ovary and is characterized by the presence of neoplastic epithelium that resembles the epithelium of the endocervix or gastrointestinal tract. It includes mucinous adenofibroma, mucinous cystadenofibroma, and mucinous cystadenoma." "" + "punctate acrokeratoderma freckle-like pigmentation" "" + "benign Leydig cell tumor" "A Leydig cell tumor which does not recur or metastasize. Morphologically, there is no evidence of cellular atypia, increased mitotic activity, necrosis, or vascular invasion." "" + "lung germ cell tumor" "A germ cell tumor that arises from the lung." "" + "ovarian thecoma" "A stromal tumor that arises from the ovary and is characterized by the presence of cells that contain lipid and resemble theca cells. The vast majority of cases are benign." "" + "serous neoplasm" "" + "cauda equina cancer" "A cancer that involves the cauda equina." "" + "benign neoplasm of cauda equina" "A benign neoplasm that involves the cauda equina." "" + "glycosylphosphatidylinositol biosynthesis defect 16" "" + "ehlers-danlos syndrome, arthrochalasia type, 2" "" + "glucocorticoid deficiency 5" "" + "blepharocheilodontic syndrome 2" "Any blepharo-cheilo-odontic syndrome in which the cause of the disease is a mutation in the CTNND1 gene." "" + "autosomal dominant oculocutaneous albinism" "Autosomal dominant form of oculocutaneous albinism." "" + "class V glucose-6-phosphate dehydrogenase deficiency" "" + "malignant peritoneal germ cell tumor" "A malignant germ cell tumor that affects the peritoneum." "" + "subacute bursitis" "" + "orbital dermoid cyst" "A benign congenital tumor that affects the orbit. It is one of the most common orbital tumors. It is characterized by the presence of a cystic structure that is lined by keratinizing epithelium and contains adnexal structures. Complete surgical excision is curative." "" + "Campylobacter fetus infectious disease" "" + "inactive tuberculosis" "" + "obsolete vascular headache" "An outdated term to describe certain types of headache which were thought to be related to blood vessel swelling and hyperemia as cause of pain. it is no longer a recognized term and not mentioned in the Headache classification of the International Headache society (IHS)." "" "true" + "psychogenic polydipsia" "A form of primary polydipsia caused by underlying psychiatric symptoms, including those caused by psychoses and rarely by affective disorders." "" + "non-psychogenic polydipsia" "A form of primary polydipsia not caused by underlying psychiatric symptoms." "" + "latent early syphilis" "" + "late latent syphilis" "Latent syphilis when infection was acquired more than twelve months previously." "" + "latent yaws" "" + "obsolete superimposed infection" "" "true" + "obsolete contact dermatitis caused by poison oak" "" "true" + "postherpetic neuralgia" "" + "mixed anxiety and depressive disorder" "" + "central retinal vein occlusion with macular edema" "" + "malignant otitis externa caused by Pseudomonas aeruginosa" "An malignant otitis externa caused by infection with Pseudomonas aeruginosa." "" + "peripheral ischemia" "Deficient blood distribution to the limbs caused by narrowing or obstruction of the lumen of the peripheral arteries." "" + "carcinoid crisis" "A life-threatening complication of carcinoid syndrome, and is generally found in people who already have carcinoid syndrome. The crisis may occur suddenly, or it can be associated with stress, chemotherapy, or anesthesia." "" + "carcinoid syndrome" "" + "polymorphic light eruption" "" + "Rowell syndrome" "A form of lupus erythematosus (discoid or systemic) with annular lesions of the skin like erythema multiforme associated with a characteristic pattern of immunological abnormalities." "" + "diphtheritic myocarditis" "An myocarditis caused by infection with Corynebacterium diphtheriae." "" + "primary motor cortex epilepsy" "A epilepsy that involves the primary motor cortex." "" + "acute papillary necrosis" "Acute form of kidney papillary necrosis." "" + "acute epiglottitis" "Acute form of epiglottitis." "" + "toxic amblyopia" "A condition where a toxic reaction in the optic nerve results in visual loss. Various poisonous substances may cause the condition as well as nutritional factors." "" + "obsolete functional visual loss" "" "true" + "metastatic malignant neoplasm in the colon" "The spread of a malignant neoplasm to the colon. This may be from a primary large intestine malignant neoplasm, or from a malignant neoplasm at a distant site." "" + "metastasis from malignant tumor of colon" "" + "pregnancy disorder with abortive outcome" "" + "mesenteric lymphadenitis due to Yersinia infection" "An mesenteric lymphadenitis caused by infection with Yersinia pseudotuberculosis." "" + "Far-East scarlet-like fever" "A severe inflammatory disease that occurs sporadically and in outbreaks in Russia and Japan, caused by Yersinia pseudotubuclosis infection, an organism that typically causes self-limiting gastroenteritis in Europe." "" + "ST-elevation myocardial infarction" "A very serious type of heart attack during which one of the heart’s major arteries (one of the arteries that supplies oxygen and nutrient-rich blood to the heart muscle) is blocked. ST-segment elevation is an abnormality detected on the 12-lead ECG." "" + "multibacillary leprosy" "A lepromatous form of leprosy that is characterized by numerous infiltrated skin lesions displaying high bacillary loads, impaired peripheral nerves, possible involvement of internal organs, and a Th2-mediated immune response." "" + "paucibacillary leprosy" "A tuberculoid form of leprosy that is characterized by a small number of hypopigmented, well-bordered, anesthetic skin lesions with a low bacillary load, early peripheral nerve impairment, and a T-helper 1 (Th1)–mediated immune response." "" + "twin reversal arterial perfusion syndrome" "" + "intraoperative floppy iris syndrome" "" + "staphylococcus aureus pneumonia" "An pneumonia caused by infection with Staphylococcus aureus." "" + "fibrosis of bile duct" "" + "thallium poisoning" "" + "disseminated candidiasis" "Systemic candidiasis occurs when Candida yeast enters the bloodstream and may spread (becoming disseminated candidiasis) to other organs, including the central nervous system, kidneys, liver, bones, muscles, joints, spleen, or eyes." "" + "Yersinia enterocolitica infectious disease" "" + "mycotic endocarditis" "An endocarditis (disease) caused by infection with Fungi." "" + "endomyometritis" "An inflammation of the endometrium and the myometrium." "" + "tertiary lesion of yaws" "" + "Trichinella spiralis infectious disease" "An disease or disorder caused by infection with Trichinella spiralis." "" + "disseminated sporotrichosis" "" + "polyposis syndrome, hereditary mixed, 1" "" + "uterine cervix carcinoma in situ" "Stage 0 includes: (Tis, N0, M0). Tis: Carcinoma in situ. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th ed.) - 2003" "" + "neutropenia, severe congenital, 1, autosomal dominant" "" + "cervical squamous intraepithelial neoplasia" "A neoplastic process that affects the squamous epithelium of the cervix. It is classified as cervical squamous intraepithelial neoplasia 1, 2, or 3, according to the degree of squamous cell maturation and cellular atypia, and the number of mitotic figures." "" + "" "true" + "arteriosclerotic retinopathy" "A arteriosclerosis disorder that involves the retina." "" + "ergotism" "Poisoning caused by ingesting ergotized grain or by the misdirected or excessive use of ergot as a medicine." "" + "mycotoxicosis" "Poisoning caused by the ingestion of mycotoxins (toxins of fungal origin)." "" + "Ruzicka-Goerz-Anton syndrome" "" + "benign familial neonatal-infantile seizures 1" "" + "Sammartino-Decreccio syndrome" "" + "Samson-Gardner syndrome" "" + "Samson-Viljoen syndrome" "" + "Sanderson-Fraser syndrome" "" + "Sandhaus-Ben-Ami syndrome" "" + "Y chromosome infertility due to DAZ1 deletion" "" + "prostatic malacoplakia associated with prostatic abscess" "" + "Saul-Wilkes-Stevenson syndrome" "" + "macrocephaly, intellectual disability, short stature, spastic paraplegia and cns malformations" "" + "macrogyria, pseudobulbar palsy and intellectual disability" "" + "sacrococcygeal teratoma" "A teratoma that is found at the base of the coccyx. It is the most commonly seen tumor in newborns." "" + "Say-Carpenter syndrome" "" + "Schaap-Taylor-Baraitser syndrome" "" + "Schwartz-Cohen-addad-Lambert syndrome" "" + "Schlegelberger-Grote syndrome" "" + "Schrander-stumpel-Theunissen-Hulsmans syndrome" "" + "Schmitt-Gillenwater-Kelly syndrome" "" + "Vagneur-Triolle-Ripert syndrome" "" + "Saal-Bulas syndrome" "" + "Sackey-Sakati-Aur syndrome" "" + "sacral hemangiomas multiple congenital abnormalities" "" + "Slti-Salem syndrome" "" + "wandering spleen" "A condition characterized by an abnormal spleen position due to loss, weakness, or malformation of one or more of the ligaments that hold the spleen in its normal position in the left upper abdomen. It may present as a birth defect or follow injuries or pregnancy. Signs and symptoms include abdominal discomfort and splenomegaly." "" + "Machado-Joseph disease type 4" "A subtype of Machado-Joseph disease characterized by Parkinsonian symptoms that respond particularly well to levodopa treatment." "" + "Machado-Joseph disease type 5" "A subtype of Machado-Joseph disease characterized by resemblance to Hereditary Spastic Paraplegia; however, more research is needed to conclude the relationship between Type V MJD and hereditary spastic paraplegia." "" + "rheumatic disease of mitral valve" "A rheumatologic disorder that involves the mitral valve." "" + "partial duplication of the long arm of chromosome 12" "Chromosome 12q duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the long arm (q) of chromosome 12. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 12q duplication include developmental delay, intellectual disability, behavioral problems, growth delay, and distinctive facial features. Most cases are not inherited, but people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person." "" + "disorder of glutamate decarboxylase" "A disease that has its basis in the disruption of glutamate decarboxylase activity." "" + "meningococcemia" "" + "parainfluenza infectious disease" "A disease caused by infection with parainfluenza virus. There are four serotypes which cause respiratory illnesses in children and adults." "" + "pseudoachondroplastic dysplasia 2" "" + "trichoepithelioma, multiple familial, 1" "" + "" "true" + "hypokalemic periodic paralysis, type 1" "" + "Westphal disease" "" + "familial acanthosis nigricans" "An instance of acanthosis nigricans (disease) that is caused by an inherited modification of the individual's genome." "" + "Weil's disease" "A jauncice caused by severe leptospirosis." "" + "Zerres Rietschel Majewski syndrome" "" + "Zazam Sheriff Phillips syndrome" "" + "Zadik-Barak-Levin syndrome" "" + "neuroaxonal dystrophy renal tubular acidosis" "" + "weinstein kliman scully syndrome" "" + "acute articular rheumatism" "" + "coronal synostosis, syndactyly and jejunal atresia" "" + "chromosome 1, uniparental disomy 1q12 q21" "" + "thickened earlobes with conductive deafness from incus-stapes abnormalities" "" + "acute posterior multifocal placoid pigment epitheliopathy" "Acute posterior multifocal placoid pigment epitheliopathy (APMPPE) is an acquired, inflammatory eye condition affecting the retina, retinal pigment epithelium (pigmented layer of the retina), and choroid. It usually affects both eyes and is characterized by multiple, yellow-white lesions in the back of the eye. The condition can significantly impair visual acuity if the macula is involved. APMPPE typically resolves on its own in weeks to months. While the cause is unknown, about a third of cases appear to develop after a flu-like illness. Non-ocular symptoms are uncommon, but cerebral vasculitis can be present and may cause permanent and/or severe neurological complications." "" + "ichthyosis, follicular" "" + "holoacardius amorphus" "" + "Hordnes Engebretsen Knudtson syndrome" "" + "hypothalamic dysfunction" "Hypothalamic dysfunction refers to a condition in which the hypothalamus is not working properly. The hypothalamus produces hormones that control body temperature, hunger, moods, release of hormones from many glands such as the pituitary gland, sex drive, sleep, and thirst. The signs and symptoms patients havevary depending on the hormones missing.Anumber of different causes including anorexia, bleeding, genetic disorder, tumors, and more have been linked to hypothalamic dysfunction. Treatment depends on the cause of the hypothalamic dysfunction." "" + "hypothyroidism due to iodide transport defect" "A condition associated with reduced active import of iodide across the basolateral membrane of the follicular cells of the thyroid gland. Inactivating mutations in the SLC5A5 gene encoding the sodium-iodide symporter are responsible for the condition." "" + "ichthyosis linearis circumflexa" "" + "infantile striato thalamic degeneration" "" + "jones hersh yusk syndrome" "" + "lachiewicz sibley syndrome" "" + "Landy-Donnai syndrome" "" + "iida kannari syndrome" "" + "male pseudohermaphroditism due to defective lh molecule" "" + "massa casaer ceulemans syndrome" "" + "mcpherson robertson cammarano syndrome" "" + "mehta lewis patton syndrome" "" + "merlob grunebaum reisner syndrome" "" + "michels caskey syndrome" "" + "microcephaly micropenis convulsions" "" + "microcephaly microphthalmos blindness" "" + "isolated microcephaly" "" + "microcephaly sparse hair intellectual disability seizures" "" + "microdontia hypodontia short stature" "" + "microphthalmia microtia fetal akinesia" "" + "negative rheumatoid factor polyarthritis" "" + "neonatal ovarian cyst" "" + "nephrotic syndrome ocular anomalies" "" + "pagon stephan syndrome" "" + "palmer pagon syndrome" "" + "pancreatic lipomatosis duodenal stenosis" "" + "panostotic fibrous dysplasia" "" + "Pavone Fiumara Rizzo syndrome" "" + "pfeiffer rockelein syndrome" "" + "Pfeiffer Tietze Welte syndrome" "" + "phosphoribosylpyrophosphate synthetase deficiency" "" + "piepkorn karp hickok syndrome" "" + "obsolete Refsum disease with increased pipecolic acidemia" "" "true" + "podder-tolmie syndrome" "" + "pointer syndrome" "" + "pulmonary artery agenesis" "" + "radial defect robin sequence" "" + "richieri-costa guion-almeida cohen syndrome" "" + "rubinstein taybi like syndrome" "" + "ruvalcaba churesigaew myhre syndrome" "" + "short limb dwarf lethal colavita kozlowski type" "" + "trichostasis spinulosa" "Trichostasis spinulosa (TS) is a condition where instead of one hair protruding from a hair follicle, a bundle or bush of hair come out of a single follicle. This results in elevated, dark spiny papules on the head, face (usually the nose), and trunk. In this condition, there are numerous tiny open pores filled with multiple tiny short hairs, usually only visible with a magnifying glass. TS usually does not cause problems andmay only be noticed as an incidental finding. The exact cause is unknown." "" + "urethral obstruction sequence" "" + "migraine with brainstem aura" "A migraine disorder characterized by episodes that are preceded by focal neurological symptoms originating in the brainstem." "" + "multi-infarct dementia" "A common form of dementia caused by multiple cortical or subcortical cerebral infarctions." "" + "postpartum amenorrhea-galactorrhea syndrome" "" + "ciguatera fish poisoning" "Poisoning caused by ingestion of seafood containing microgram levels of ciguatoxins. The poisoning is characterized by gastrointestinal, neurological and cardiovascular disturbances." "" + "exfoliative dermatitis" "The widespread involvement of the skin by a scaly, erythematous dermatitis occurring either as a secondary or reactive process to an underlying cutaneous disorder (e.g., atopic dermatitis, psoriasis, etc.), or as a primary or idiopathic disease. It is often associated with the loss of hair and nails, hyperkeratosis of the palms and soles, and pruritus. (From Dorland, 27th ed)" "" + "glossodynia" "Painful sensations in the tongue, including a sensation of burning." "" + "hemophilic arthropathy" "A form of arthritis that affects hemophiliacs, which is characterized by bleeding into the joint space." "" + "Mallory-Weiss syndrome" "A disorder characterized by upper gastrointestinal tract bleeding caused by longitudinal mucosal tears in the gastroesophageal junction. The tears result from retching or forceful coughing. It was initially described in alcoholics." "" + "odontoma" "A benign, slow growing, and painless hamartomatous tumor occurring in tooth-bearing areas of the jaws. According to the presence or absence of tooth-like structures, it is classified as complex type or compound type. Odontoma of complex type is characterized by the presence of enamel and dentin and the absence of tooth-like structures. It is treated with local excision. If it is incompletely removed, it may recur. Odontoma of compound type is characterized by the presence of tooth-like structures. It is treated by local excision. Recurrences have not been reported." "" + "papular urticaria" "" + "pemphigus and fogo selvagem" "" + "post-traumatic epilepsy" "Recurrent seizures causally related to CRANIOCEREBRAL TRAUMA. Seizure onset may be immediate but is typically delayed for several days after the injury and may not occur for up to two years. The majority of seizures have a focal onset that correlates clinically with the site of brain injury. Cerebral cortex injuries caused by a penetrating foreign object (CRANIOCEREBRAL TRAUMA, PENETRATING) are more likely than closed head injuries (HEAD INJURIES, CLOSED) to be associated with epilepsy. Concussive convulsions are nonepileptic phenomena that occur immediately after head injury and are characterized by tonic and clonic movements. (From Rev Neurol 1998 Feb;26(150):256-261; Sports Med 1998 Feb;25(2):131-6)" "" + "rheumatoid vasculitis" "Necrotizing VASCULITIS of small and medium size vessels, developing as a complication in RHEUMATOID ARTHRITIS patients. It is characterized by peripheral vascular lesions, cutaneous ulcers, peripheral gangrene, and mononeuritis multiplex." "" + "TORCH syndrome" "A syndrome that results from a group of infections that affect the fetus or the newborn. The group of infections includes Toxoplasma gondii, rubella, cytomegalovirus, herpes simplex virus, and other infections. The other infections include varicella-zoster virus, hepatitis B virus, human immunodeficiency virus, parvovirus B19, and syphilis. Signs and symptoms include fever, feeding difficulties, petechial rash, jaundice, hepatosplenomegaly, chorioretinitis, and microcephaly." "" + "mosaic trisomy 6" "Trisomy 6 is a rare prenatal finding. Trisomy 6 conceptions have not been observed in the large case reports of chromosomal mosaicism detected during chorionic villus sampling (Hahnemann & Vejerslev 1997)." "" + "Wallerian degeneration" "A condition caused by degeneration, atrophy, and destruction of the distal part of a nerve fiber's axon and myelin, when continuity with the neural cell nucleus has been severed due to injury. Signs and symptoms include muscle weakness, altered sensation, and limb numbness." "" + "silicosiderosis" "" + "superior vena cava syndrome" "Obstruction of the blood flow in the superior vena cava caused by a malignant neoplasm, thrombosis, or aneurysm. It is a medical emergency requiring immediate treatment. Signs and symptoms include swelling and cyanosis of the face, neck, and upper arms, cough, orthopnea, and headache." "" + "Rokitansky-Aschoff sinuses of the gallbladder" "An abnormality characterized by macroscopic or microscopic outpouchings of gallbladder mucosa into the muscle of the gallbladder wall. It may be associated with cholecystitis or gallstones." "" + "linear scleroderma" "A type of localized scleroderma characterized by a long strip of indurated skin, which is typically found unilaterally on an arm or leg, and sometimes on the forehead or trunk. This disorder often affects the tissues beneath the skin, causing damage to bones, muscle or other organs. It can limit movement, alter growth, and disfigure the affected area." "" + "vibrio vulnificus infectious disease" "An disease or disorder caused by infection with Vibrio vulnificus." "" + "actinic cheilitis" "" + "hyperacusis" "A disorder in which an individual has an abnormally low noise tolerance, and increased sensitivity to sounds." "" + "amaurosis fugax" "Transient complete or partial monocular blindness due to retinal ischemia. This may be caused by emboli from the CAROTID ARTERY (usually in association with CAROTID STENOSIS) and other locations that enter the central RETINAL ARTERY. (From Adams et al., Principles of Neurology, 6th ed, p245)" "" + "aquarium granuloma" "A skin condition caused by Mycobacterium marinum, characterized by a skin lesion that presents roughly three weeks after exposure." "" + "amyopathic dermatomyositis" "Amyopathic dermatomyositis is a form of dermatomyositis characterized by the presence of typicalskin findingswithout muscle weakness.Some of the skinchanges that suggest dermatomyositis include a pink rash on the face, neck, forearms and upper chest; Gottron's papules and heliotrope eyelids. Pruritis and photosensitivity are common, as is scalp inflammation and thinning of the hair.While patients with amyopathic dermatomyositis should not have clinically evident muscle weakness, minor muscle abnormalities may be included.Fatigue is reported in at least 50% of patients. Some cases have beenassociated with internal malignancy and/or interstitial lung disease. Treatment may include sun avoidance, ample use of sunscreen, topical corticosteroids, antimalarial agents, methotrexate, mycophenolate mofetil, or intravenous (IV) immunoglobulin." "" + "piriformis syndrome" "A condition referring to irritation or compression of the proximal sciatic nerve, secondary to contraction of the piriformis muscle. It results in pain in the hip or the back of the leg mimicking disk-related sciatica." "" + "Mirizzi syndrome" "Complication of cholelithiasis characterized by obstructive jaundice; abdominal pain, and fever." "" + "lathyrism" "A paralytic condition of the legs caused by ingestion of lathyrogens, especially beta-aminopropionitrile or beta-N-oxalyl amino-L-alanine, which are found in the seeds of plants of the genus lathyrus." "" + "Chilaiditi syndrome" "Interposition of a portion of the colon (e.g., sigmoid colon) between the liver and the diaphragm. It is associated with abdominal pain, vomiting, constipation, anorexia and volvulus. Chilaiditi anomaly refers to asymptomatic interposition." "" + "progressive transformation of germinal centers" "Progressive transformation of germinal centers is a condition in which a lymph node becomes very enlarged (lymphadenopathy). Typically, only one lymph node is affected, though PTGC can involve multiple lymph nodes. Theneck is the most common location of affected lymph nodes, but PTGC may also affect lymph nodes in the groin and armpits. adults are more frequently affected than children, but children have a higher chance of developing PTGC multiple times (recurrence). PTGC is not considered a precancerous condition, though it has been associated with Hodgkin lymphoma." "" + "intravascular papillary endothelial hyperplasia" "A reactive, well-circumscribed vascular lesion. It is characterized by the formation of thin papillae projecting within the lumen of blood vessels. The papillae are lined by plump endothelial cells. Blood clots are also present." "" + "fournier gangrene" "An acute necrotic infection of the SCROTUM; PENIS; or PERINEUM. It is characterized by scrotum pain and redness with rapid progression to gangrene and sloughing of tissue. Fournier gangrene is usually secondary to perirectal or periurethral infections associated with local trauma, operative procedures, or urinary tract disease." "" + "collagenous gastritis" "A rare type of gastritis characterized by gastric subepithelial collagen deposition and inflammatory infiltrates in the lamina propria. The pathogenesis of this disorder is unclear although an association with autoimmune disorders has been reported. It affects both children and adults. Children present with iron deficiency anemia and have a nodular stomach on gastroscopy. adults present with chronic watery diarrhea and may have an associated collagenous colitis." "" + "engraftment syndrome" "A toxicity of hematopoietic stem cell transplantation that manifests as fever, rash and pulmonary deterioration which becomes evident at marrow engraftment. It occurs unexpectedly and is occasionally fatal. It can occur after an autogeneic or an allogeneic hematopoietic cell transplantation." "" + "May-Thurner syndrome" "A compression of ILIAC VEIN that results in a decreased flow in the vein and in the left LOWER EXTREMITY due to a vascular malformation. It may result in left leg EDEMA, pain, iliofemoral DEEP VENOUS THROMBOSIS and POSTTHROMBOTIC SYNDROME. Compression of the left common ILIAC VEIN by the right common ILIAC ARTERY against the underlying fifth LUMBAR VERTEBRA is the typical underlying malformation." "" + "eosinophil peroxidase deficiency" "A rare abnormality of eosinophil granulocytes characterized by decreased or absent peroxidase activity and decreased volume of the granule matrix." "" + "secondary adrenal insufficiency" "A hormonal disorder that occurs when lack of corticotropin-releasing hormone (CRH) secretion from the hypothalamus or adrenocorticotropic hormone (ACTH) secretion from the pituitary is responsible for hypofunction of the adrenal cortex." "" + "sudden sensorineural hearing loss" "Sensorineural hearing loss which develops suddenly over a period of hours or a few days. It varies in severity from mild to total deafness. Sudden deafness can be due to head trauma, vascular diseases, infections, or can appear without obvious cause or warning." "" + "juvenile spondyloarthropathy" "A group of chronic, inflammatory childhood diseases characterized by arthritis and enthesitis. This disorder can affect the axial skeleton in late childhood or young adulthood." "" + "humoral hypercalcemia of malignancy" "Hypercalcemia generally develops as a late complication of malignancy; its appearance has grave prognostic significance. It remains unclear, however, whether death is associated with hypercalcemic crisis (uncontrolled or recurrent progressive hypercalcemia) or with advanced disease. Symptoms include central nervous system impairment such as delirium with prominent symptoms of personality change, cognitive dysfunction, disorientation, incoherent speech, and psychotic symptoms such as hallucinations and delusions, smooth muscle hypotonicity, and altered cardiovascular function." "" + "radiation injury" "Harmful effects of non-experimental exposure to ionizing or non-ionizing radiation in VERTEBRATES." "" + "achlorhydria" "Absence of hydrochloric acid in the gastric juice." "" + "acne keloid" "A chronic eruption of fibrous papules that develop and fuse to form a thick sclerotic, hypertrophic band at a site of deep folliculitis, usually along the posterior hairline of the scalp. It is most commonly seen in men of African descent." "" + "ectopic ACTH secretion syndrome" "A syndrome characterized by abnormal secretion of adrenocorticotrophic hormone in conjunction with neoplastic growth occurring anywhere in the body. The most common associations are tumors of the bronchus (oat cell or carcinoid), thymic tumors (epithelial or carcinoid), and pancreatic endocrine tumor. (DeVita et al. Cancer, p 1364. 4th edition. Lippincott)" "" + "Adams-Stokes syndrome" "An episode of sudden and transient loss of consciousness sometimes associated with seizures. It is caused by a sudden decrease of the cardiac output that results from a sudden cardiac dysrhythmia. Typically patients develop an initial pallor, followed by facial flush during recovery." "" + "nervous system injury" "Traumatic injuries to the brain, cranial nerves, spinal cord, autonomic nervous system, or neuromuscular system, including iatrogenic injuries induced by surgical procedures." "" + "traumatic encephalopathy" "Encephalopathy resulting from trauma." "" + "burn" "A traumatic injury involving interruption of tissue cohesiveness that results from exposure to caustic chemicals, extreme heat, extreme cold or excessive radiation." "" + "cadmium poisoning" "Poisoning occurring after exposure to cadmium compounds or fumes. It may cause gastrointestinal syndromes, anemia, or pneumonitis." "" + "carcinoid heart disease" "Cardiac manifestation of gastrointestinal CARCINOID TUMOR that metastasizes to the liver. Substances secreted by the tumor cells, including SEROTONIN, promote fibrous plaque formation in ENDOCARDIUM and its underlying layers. These deposits cause distortion of the TRICUSPID VALVE and the PULMONARY VALVE eventually leading to STENOSIS and valve regurgitation." "" + "iatrogenic disease" "Any adverse condition in a patient occurring as the result of treatment by a physician, surgeon, or other health professional, especially infections acquired by a patient during the course of treatment." "" + "crush syndrome" "A medical condition characterized by major shock and renal failure after a crushing injury to skeletal muscle." "" + "infantile diarrhea" "Diarrhea occurring in infants from newborn to 24-months old." "" + "endarteritis" "Inflammation of the arterial intima." "" + "femoral neck fracture" "Fractures of the short, constricted portion of the thigh bone between the femur head and the trochanters. It excludes intertrochanteric fractures which are HIP FRACTURES." "" + "obsolete pathologic fracture" "A traumatic break in an area of bone that has been weakened by another disease process." "" "true" + "herpes labialis" "A lesion caused by type 1 or type 2 herpes simplex virus, typically involving the oralfacial region." "" + "chromosome inversion" "A type of chromosome rearrangement in which a segment has been turned through 180 degrees (inverted), and inserted back into its original location on the chromosome." "" + "Leriche syndrome" "An atherosclerotic disorder of the peripheral vascular system affecting mostly males in their later decades. It is caused by thrombotic occlusion of the abdominal aorta just above the level of the bifurcation. Clinical signs include impotence, intermittent claudication, diminished femoral pulses and cold, pallid lower extremities. Prognosis is favorable with surgical or endovascular intervention." "" + "Monteggia's fracture" "Fracture in the proximal half of the shaft of the ulna, with dislocation of the head of the radius." "" + "multiple organ dysfunction syndrome" "The development of potentially reversible physiologic derangement involving two or more organ systems not involved in the disorder that resulted in intensive care unit (ICU) admission, and arising in the wake of a potentially life-threatening physiologic insult." "" + "lytic metastatic bone lesion" "Dissolution of bone that particularly involves the removal or loss of calcium." "" + "abdominal ectopic pregnancy" "Ectopic pregnancy characterized by the implantation of the embryo in the peritoneal cavity or abdominal organs." "" + "tubal pregnancy" "An abnormal pregnancy in which the conception is implanted in the fallopian tube." "" + "presbycusis" "Bilateral hearing loss caused by progressive degeneration of cochlear structures and central auditory pathways, typically associated with the aging process." "" + "respiratory paralysis" "Complete or severe weakness of the muscles of respiration. This condition may be associated with motor neuron diseases; peripheral nerve diseases; neuromuscular junction diseases; spinal cord diseases; injury to the phrenic nerve; and other disorders." "" + "rhinophyma" "Progressive enlargement of the nose due to hypertrophy of the sebaceous glands of the tip of the nose and fibrosis. It usually affects older men and is associated with long-standing acne rosacea. It presents as a pink lobulated mass with dilated vessels in the nose." "" + "sclerema neonatorum" "A diffuse hardening of skin and subcutaneous adipose tissue, associated with minimal inflammation without fat necrosis, that typically affects critically ill preterm neonates during the first week of life." "" + "serum sickness" "Delayed-type hypersensitivity reaction to foreign proteins derived from an animal serum. It occurs approximately six to twenty one days following the administration of the foreign antigen. Symptoms include fever, arthralgias, myalgias, skin eruptions, lymphadenopathy, chest pain, and dyspnea. Certain drugs (e.g., antibiotics, anticancer agents, and anti-inflammatory medications) and infectious disorders (e.g., hepatitis B) may also cause serum sickness-like reaction." "" + "spinal cord injury" "Penetrating and non-penetrating injuries to the spinal cord resulting from traumatic external forces (e.g., WOUNDS, GUNSHOT; WHIPLASH INJURIES; etc.)." "" + "tuberculosis, spinal" "Tuberculosis of the vertebrae." "" + "voice disorders" "A pathologic process in the larynx that affects the production of speech. Causes include vocal cord paresis, vocal cord nodule, vocal cord polyp, and laryngitis." "" + "tumor lysis syndrome" "A condition of metabolic abnormalities that result from a spontaneous or therapy-related cytolysis of tumor cells. Tumor lysis syndrome typically occurs in aggressive, rapidly proliferating lymphoproliferative disorders. Burkitt lymphoma and T cell acute lymphoblastic leukemia are commonly associated with this syndrome. Metabolic abnormalities include hyperuricemia, lactic acidosis, hyperkalemia, hyperphosphatemia and hypocalcemia and may result in renal failure, multiple organ failure, and death." "" + "obsolete acute eosinophilic leukemia" "A poorly defined concept which at best is described as an extremely rare entity, possibly related to various subtypes of acute myeloid leukemia with abnormal eosinophils. (WHO, 2001)" "" "true" + "prosthesis-related infectious disease" "A bacterial infection related to a device used to replace a missing body part. The infection may occur during the operation from direct contamination or post-operatively through hematogenous spread." "" + "ankle injury" "Harm or hurt to the ankle or ankle joint usually inflicted by an external source." "" + "leishmaniasis, diffuse cutaneous" "A form of LEISHMANIASIS, CUTANEOUS caused by Leishmania aethiopica in Ethiopia and Kenya, L. pifanoi in Venezuela, L. braziliensis in South America, and L. mexicana in Central America. This disease is characterized by massive dissemination of skin lesions without visceral involvement." "" + "radiation pneumonitis" "Inflammation of the lung due to harmful effects of ionizing or non-ionizing radiation." "" + "lichen planus, oral" "A chronic, autoimmune inflammatory condition of the mucous membranes in the oral cavity that affects approximately two percent of the population and is most often seen in middle aged women. It is characterized by white, lacy patches; red, swollen tissue; papules and plaques; or open sores. The lesions are typically bilateral." "" + "pseudolymphoma" "A neoplastic process that resembles a malignant lymphoma, but has a benign course." "" + "nocturnal paroxysmal dystonia" "A parasomnia characterized by paroxysmal episodes of choreoathetotic, ballistic, dystonic movements, and semipurposeful activity. The episodes occur during non-rapid eye movement sleep and typically recur several times per night." "" + "autonomic dysreflexia" "A syndrome associated with damage to the spinal cord above the mid thoracic level (see SPINAL CORD INJURIES) characterized by a marked increase in the sympathetic response to minor stimuli such as bladder or rectal distention. Manifestations include HYPERTENSION; TACHYCARDIA (or reflex bradycardia); FEVER; FLUSHING; and HYPERHIDROSIS. Extreme hypertension may be associated with a STROKE. (From Adams et al., Principles of Neurology, 6th ed, pp538 and 1232; J Spinal Cord Med 1997;20(3):355-60)" "" + "cubital tunnel syndrome" "Compression of the ULNAR NERVE in the cubital tunnel, which is formed by the two heads of the flexor carpi ulnaris muscle, humeral-ulnar aponeurosis, and medial ligaments of the elbow. This condition may follow trauma or occur in association with processes which produce nerve enlargement or narrowing of the canal. Manifestations include elbow pain and PARESTHESIA radiating distally, weakness of ulnar innervated intrinsic hand muscles, and loss of sensation over the hypothenar region, fifth finger, and ulnar aspect of the ring finger. (Joynt, Clinical Neurology, 1995, Ch51, p43)" "" + "central nervous system lupus" "Inflammation that includes the brain, spinal cord and surrounding tissues secondary to systemic lupus erythematosus (SLE); it is associated with neurological and/or psychiatric features." "" + "zoster sine herpete" "Herpes zoster but without eruption of vesicles. Patients exhibit the characteristic pain minus the skin rash, sometimes making diagnosis difficult." "" + "acute cholecystitis" "Acute inflammation of the gallbladder." "" + "hearing loss, mixed conductive-sensorineural" "Hearing loss characterized by a combination of conductive and sensorineural hearing loss. It is caused by problems in both the inner ear and middle or outer ear." "" + "postpartum thyroiditis" "A transient autoimmune Inflammatory disorder of thyroid gland that occurs postpartum due to any partum problem. It is characterized by the presence of high titers of autoantibodies against thyroid peroxidase and thyroglobulin. Clinical signs include the triphasic thyroid hormone pattern: beginning with thyrotoxicosis, followed with hypothyroidism, then return to euthyroid state by 1 year postpartum" "" + "posterior leukoencephalopathy syndrome" "An acute or subacute reversible condition characterized by headaches, mental status changes, visual disturbances, and seizures associated with imaging findings of posterior leukoencephalopathy. It has been observed in association with hypertensive encephalopathy, eclampsia, and immunosuppressive and cytotoxic drug treatment." "" + "livedo reticularis" "A condition characterized by a reticular or fishnet pattern on the skin of lower extremities and other parts of the body. This red and blue pattern is due to deoxygenated blood in unstable dermal blood vessels. The condition is intensified by cold exposure and relieved by rewarming." "" + "candidiasis, invasive" "A fungal infection by any of the Candida species in a sterile body compartment." "" + "candidemia" "A form of invasive candidiasis where species of candida are present in the blood." "" + "cardio-renal syndrome" "A disorder of the heart and kidneys in which dysfunction of one of the organs induces dysfunction of the other organ." "" + "collagenous sprue" "A rare disorder affecting the digestive tract. Its cause is unclear but may be attributed, in part, to increased collagen synthesis without adequate fibrolysis. It is characterized histologically by atrophy of mucosal villi and crypts with extensive subepithelial collagen deposition. Clinical signs include nausea, vomiting, diarrhea and weight loss. Unlike celiac sprue (celiac disease), a gluten-free diet does not predict a certain regression of the disease. The clinical course follows a progression of malabsorption leading to nutritional deficiencies, small bowel ulceration/perforation, lymphoma and infection. Prognosis is usually dismal." "" + "ovarian ectopic pregnancy" "An abnormal pregnancy in which the conception is implanted on the ovary." "" + "pregnancy, cornual" "An abnormal pregnancy in which the conception is implanted and develops in the cornu of uterus." "" + "bullous systemic lupus erythematosus" "A manifestation of systemic lupus erythematosus with a widespread vesiculobullous eruption." "" + "hyalitis" "Inflammatory intraocular reaction with clouding and cells in vitreous; often accompanies inflammation of ciliary body, iris, choroid, or retina." "" + "panic disorder without agoraphobia" "A disorder in which an individual experiences recurrent, unexpected panic attacks and persistent concern about having additional panic attacks. Agoraphobia is not a component of this disorder." "" + "panic disorder with agoraphobia" "A disorder in which an individual experiences recurrent, unexpected panic attacks and persistent concern about having additional panic attacks. Agoraphobia is a component of this disorder." "" + "Shwachman-Diamond syndrome 1" "" + "Shwachman-Diamond syndrome 2" "Shwachman-Diamond syndrome-2 (SDS2) is characterized by exocrine pancreatic dysfunction, hematopoietic abnormalities, short stature, and metaphyseal dysplasia ({1:Stepensky et al., 2017}).nnFor a discussion of genetic heterogeneity of Shwachman-Diamond syndrome, see SDS1 (OMIM:260400)." "" + "otospondylomegaepiphyseal dysplasia, autosomal recessive" "" + "specific granule deficiency 1" "Any specific granule deficiency in which the cause of the disease is a mutation in the CEBPE gene." "" + "specific granule deficiency 2" "Specific granule deficiency-2 is an autosomal recessive immunologic disorder characterized by recurrent infections due to defective neutrophil development. Bone marrow findings include hypercellularity, abnormal megakaryocytes, and features of progressive myelofibrosis with blasts. The disorder is apparent from infancy, and most patients die in early childhood unless they undergo hematopoietic stem cell transplantation. Some patients may have additional findings, including delayed development, mild dysmorphic features, and distal skeletal anomalies (summary by {2:Witzel et al., 2017}).nnFor a discussion of genetic heterogeneity of SGD, see SGD1 (OMIM:245480)." "" + "thalassemia minor" "The inheritance of only one mutated beta-globin allele (beta+ or beta0)." "" + "idiopathic urticaria" "" + "chronic idiopathic urticaria" "Chronic form of idiopathic urticaria." "" + "acute idiopathic urticaria" "Acute form of idiopathic urticaria." "" + "obsolete androstenone, ability to smell" "" "true" + "obsolete arm folding preference" "" "true" + "obsolete artichoke, modification of taste by" "" "true" + "obsolete asparagus, specific smell hypersensitivity" "" "true" + "obsolete beeturia" "" "true" + "obsolete blood group, duffy system" "The Duffy blood group system, which consists of 4 alleles, 5 phenotypes, and 5 antigens, is important in clinical medicine because of transfusion incompatibilities and hemolytic disease of the newborn. Duffy antigens are located on ACKR1 (OMIM:613665), or DARC, an acidic glycoprotein found on erythrocytes and other cells throughout the body. The 2 principal antigens, Fy(a) and Fy(b), are produced by the FYA and FYB codominant alleles (see {613665.0001}). Four phenotypes are defined by the corresponding antibodies, anti-Fy(a) and anti-Fy(b): Fy(a+b-), Fy(a-b+), Fy(a+b+), and Fy(a-b-). Fy(a-b-), or Duffy null, is the major phenotype in African and American blacks and is characterized by the presence of Fy(b) on nonerythroid cells, but an absence of Fy(b) on erythrocytes. The Fy(a-b-) phenotype is associated with complete resistance to infection by the malarial parasite Plasmodium vivax (see OMIM:611162). Individuals with the Fy(a-b-) phenotype have the FYB-erythroid silent (FYB-ES) allele with a mutation in the DARC promoter ({613665.0002}). A fifth phenotype, Fy(bwk), or Fy(x), is characterized by weak Fy(b) expression on erythrocytes due to a reduced amount of protein. Individuals with the Fy(bwk) phenotype have the FYB-weak (FYB-WK) allele, also called the FYX allele, with a missense mutation in DARC ({613665.0003}). Other Duffy antigens include Fy3, Fy4, Fy5, and Fy6 (reviews by {21:Pogo and Chaudhuri (2000)}, {10:Langhi and Bordin (2006)}, and {14:Meny (2010)})." "" "true" + "obsolete blood group, 1 system" "" "true" + "obsolete blood group--lutheran inhibitor" "" "true" + "obsolete blood group, p1pk system" "" "true" + "obsolete radin blood group antigen" "" "true" + "obsolete apocrine gland secretion, variation 1n" "" "true" + "obsolete creatine kinase, brain type, ectopic expression of" "" "true" + "obsolete defective interfering particle induction, control of" "" "true" + "obsolete dimples, facial" "" "true" + "obsolete eegbqtl" "Since the initial discovery of the human electroencephalogram (EEG) by {1:Berger (1929)}, it has been speculated that neural oscillations play a broad role in nervous systems and form the basis for higher cognitive functions and consciousness. The presence of a beta/gamma oscillation (18 to 50 Hz) is thought to represent an activated state of the underlying neuronal network. These beta (12-29 Hz) and gamma (30-50 Hz) brain rhythms involve gamma-aminobutyric acid type A (GABA-A) receptor action ({2:Haenschel et al., 2000}; summary by {3:Porjesz et al., 2002})." "" "true" + "obsolete epiblepharon of lower 51d" "" "true" + "obsolete epiblepharon of upper 51d" "" "true" + "obsolete eyebrow, whorl 1n" "" "true" + "obsolete fingers, relative length of" "" "true" + "obsolete hair whorl" "" "true" + "obsolete hrm2" "" "true" + "obsolete hsr" "" "true" + "obsolete hepatitis b vaccine, response to" "More than 2 billion people have been infected with the hepatitis B virus (HBV; see OMIM:610424), and more than 350 million of these people are chronic carriers. Each year more than half a million die as a result of acute or chronic HBV infection. Vaccination has been highly successful at preventing new HBV infections and has been implemented into the national immunization programs of more than 150 countries. However, the immune response to HBV vaccination varies greatly among individuals, with 5 to 10% of healthy adults failing to produce protective levels of antibodies. Several factors have been implicated in determining the response to HBV vaccination, including physical factors, such as age, gender, obesity, immunosuppression, and smoking, as well as variation in genes of the immune system (summary by {2:Davila et al., 2010})." "" "true" + "obsolete hypercholesterolemia suppressor" "" "true" + "obsolete lunulae of fingernails" "" "true" + "obsolete median-ulnar nerve communications" "" "true" + "obsolete musical perfect pitch" "Perfect pitch, or absolute pitch (AP), is defined as the ability immediately and effortlessly to name a note or collection of notes when they are sounded. Often, persons with perfect pitch possess a memory capacity whereby they can remember the pitch of a note and the configuration of a group or series of notes after a significant interval of time has elapsed. These recognitive and memory talents involve a potential capacity for performing these functions together with a practice factor which is necessary for the maintenance of the skills at the highest level (summary by {12:Profita and Bidder, 1988}). Absolute pitch likely results from a combination of environmental and genetic factors ({16:Theusch et al., 2009})." "" "true" + "obsolete mydriatic response to pharmacologic agents" "" "true" + "obsolete mydriasis, congenital" "" "true" + "obsolete nail high-sulfur protein" "" "true" + "obsolete nail low-sulfur protein" "" "true" + "obsolete nailbeds, pigmentation of" "" "true" + "obsolete nystagmus, voluntary" "Voluntary nystagmus is a rapid to-and-fro synchronous movement of the eyes that is initiated and maintained by conscious effort. Voluntary nystagmus has a frequency of 10-25 Hz, with an amplitude of up to 6 degrees, and can be maintained for up to 35 seconds. It usually has its first appearance between ages 8 to 15 years. It can be produced in both light and darkness, without fixation, at all eye positions, and even with closed eyes. It is accompanied by oscillopsia with visual blurring (summary by {1:Aschoff et al., 1976})." "" "true" + "obsolete palmomental reflex" "" "true" + "obsolete thiourea tasting" "The sense of bitter taste is mediated by a group of bitter taste receptor proteins that reside on the surface of taste cells within the taste buds of the tongue. These proteins are 7-transmembrane domain, G protein-coupled receptors that are encoded by the TAS2R gene family (see TAS2R10; OMIM:604791), which contains at least 25 functional genes ({22:Kim et al., 2005}).nnHumans worldwide display a bimodality in sensitivity to the bitter taste of PTC, with approximately 75% of individuals perceiving it as intensely bitter, whereas the rest perceive it as tasteless. This difference has been the basis of study of taste perception in humans for over 70 years. {21:Kim and Drayna (2004)} provided an historical review of the subject.nnPropylthiouracil (PROP) and PTC are members of a class of compounds known as thioureas. The compounds carry the chemical group N-C=S, which is responsible for their characteristic bitter taste ({3:Bartoshuk et al., 1994}; {10:Drewnowski and Rock, 1995})." "" "true" + "obsolete alkaline phosphatase, plasma level of, quantitative trait locus 1" "" "true" + "obsolete tongue curling, folding, or rolling" "" "true" + "obsolete australia antigen" "" "true" + "obsolete skin/hair/eye pigmentation, variation in, 6" "" "true" + "obsolete dermatoglyphics--palmar triradius d, absence of" "" "true" + "obsolete dermatoglyphics--hypothenar radial arch" "" "true" + "obsolete skin/hair/eye pigmentation, variation in, 1" "Multiple genes influence normal human skin, hair, and/or eye pigmentation. Pigmentation phenotypes influenced by variation in the OCA2 gene are termed SHEP1. The SHEP2 association (OMIM:266300) is determined by variation at the MC1R locus (OMIM:155555) and describes a phenotype predominantly characterized by red hair and fair skin. SHEP3 (OMIM:601800) encompasses pigment variation influenced by the TYR gene (OMIM:606933); SHEP4 (OMIM:113750), that influenced by the SLC24A5 gene (OMIM:609802). Variation in the SLC45A2 (OMIM:606202) and SLC24A4 (OMIM:609840) genes result in the phenotypic associations SHEP5 (OMIM:227240) and SHEP6 (OMIM:210750), respectively. Sequence variation thought to affect expression of KITLG (OMIM:184745) results in the SHEP7 (OMIM:611664) phenotypic association. SHEP8 (OMIM:611724) is associated with variation in the IRF4 gene (OMIM:601900). Polymorphism in the 3-prime untranslated region of the ASIP gene (OMIM:600201) influences the SHEP9 association (OMIM:611742). The SHEP10 association (OMIM:612267) comprises variation in the TPCN2 gene (OMIM:612163), and SHEP11 (OMIM:612271) is associated with polymorphism near the TYRP1 gene (OMIM:115501)." "" "true" + "obsolete skin/hair/eye pigmentation, variation in, 5" "" "true" + "obsolete lutheran null" "Autosomal recessive inheritance of the Lutheran null blood group phenotype is extremely rare, and has been reported in only 5 individuals. There is no obvious associated clinical or hematologic pathology, and all patients have been identified through identification of anti-Lu3 antibodies in their serum ({4:Karamatic Crew et al., 2007}).nnThe Lutheran inhibitor blood group phenotype (In(Lu); OMIM:111150) is characterized phenotypically by the apparent absence of the Lu antigen on red blood cells during serologic tests, i.e. Lu(a-b-). Since it is inherited as an autosomal dominant trait, it was initially postulated to result from an inhibitor of the Lu antigen. However, {7:Singleton et al. (2008)} found that the phenotype results from a mutation in the transcription factor KLF1 that regulates expression of the BCAM gene. These 2 forms of Lutheran absence on red blood cells can be differentiated both by the pedigree and by serologic studies.nnAn X-linked recessive form (OMIM:309050) has been rarely reported." "" "true" + "obsolete methane production" "" "true" + "obsolete skin/hair/eye pigmentation, variation in, 2" "Two types of melanin, the red pheomelanin and the black eumelanin, are present in human skin. {22:Valverde et al. (1995)} noted that eumelanin is photoprotective, whereas pheomelanin may contribute to UV-induced skin damage because of its potential to generate free radicals in response to ultraviolet radiation. Individuals with red hair have a predominance of pheomelanin in hair and skin and/or a reduced ability to produce eumelanin, which may explain why they fail to tan and are at risk from ultraviolet radiation. In mammals, the relative proportions of pheomelanin and eumelanin are regulated by melanocyte-stimulating hormone (see OMIM:176830), which acts via its receptor (MC1R) on melanocytes to increase the synthesis of eumelanin, and also via the product of the agouti locus (AGTI; OMIM:600201), which antagonizes this action." "" "true" + "obsolete ec1" "" "true" + "obsolete menoq1" "" "true" + "obsolete cyanide, inability to smell" "" "true" + "obsolete lutheran suppressor, x-linked" "An X-linked recessive inhibitor (XS) of the Lutheran blood group system (OMIM:111200) has been reported.nnFor a discussion of Lutheran blood group phenotypes, see OMIM:247420." "" "true" + "obsolete radial loop, plain, on right index finger" "" "true" + "obsolete tooth size" "" "true" + "obsolete xm system" "Berg and Bearn (1966, 1966) discovered an X-linked serum protein type by means of heteroantiserum made specific by absorption. Since the group-specific antigen appears to be located in the alpha-2-macroglobulin of serum, the name Xm was assigned to the system. The distribution of phenotypes in families and in populations was consistent with X-linkage." "" "true" + "obsolete gcy" "" "true" + "obsolete transsexuality" "" "true" + "obsolete novelty seeking personality trait" "Human personality traits that can be reliably measured by rating scales show a considerable heritable component. One such instrument is the tridimensional personality questionnaire (TPQ), which was designed by {6:Cloninger et al. (1993)} to measure 4 distinct domains of temperament--novelty seeking, harm avoidance, reward dependence, and persistence--that are hypothesized to be based on distinct neurochemical and genetic substrates.nnRisk-taking is a characteristic of behaviors that occur under conditions of uncertainty and involves a tradeoff between beneficial versus detrimental outcomes, perceived or real. Risk-taking may or may not involve conscious evaluation of the probability and magnitude of possible outcomes ({1:Anokhin et al., 2009}).nnSee also harm avoidance (OMIM:607834) and pathologic gambling (OMIM:606349), which may be related." "" "true" + "obsolete bilirubin, serum level of, quantitative trait locus 1" "" "true" + "obsolete bone mineral density quantitative trait locus 1" "" "true" + "obsolete body mass index quantitative trait locus 9" "" "true" + "obsolete hypertension, diastolic, resistance to" "" "true" + "obsolete hemoglobin, high altitude adaptation" "Individuals with high altitude adaptation hemoglobin can survive in extremely hypoxic conditions without an increase in hematocrit or the development of erythrocytosis or polycythemia vera (summary by {3:Lorenzo et al., 2014})." "" "true" + "obsolete carotid intimal medial thickness 1" "" "true" + "obsolete skin/hair/eye pigmentation, variation in, 11" "" "true" + "obsolete uric acid concentration, serum, quantitative trait locus 4" "" "true" + "obsolete short sleeper" "In a review of various classification schemes for sleep disorders, {2:Thorpy (1990)} listed 'short sleeper' under the broad category of 'disorders of initiating and maintaining sleep' (DIMS); however, the short sleeper phenotype or trait is not considered a sleep disorder. Individuals with this trait require less sleep in any 24-hour period than is typical for their age group.nnSee also familial advanced sleep-phase syndrome (FASPS; OMIM:604348), which is a distinct disorder characterized by very early sleep onset and offset." "" "true" + "obsolete bone mineral density quantitative trait locus 15" "" "true" + "obsolete glycerol quantitative trait locus" "" "true" + "obsolete c3hex, ability to smell" "Cis-3-hexen-1-ol (C3HEX) is present in a wide range of foods and beverages, including wine and spirits, olive oil, vegetables, fruit, and green tea. C3HEX is commonly associated with sensory characteristics such as 'green' and 'grassy.' The probability of an individual's ability to detect C3HEX at a particular intensity (the R-index) can be estimated, and the threshold for detection is normally distributed (summary by {1:Jaeger et al., 2010})." "" "true" + "obsolete blood group, vel system" "The Vel blood group system is defined by the presence of the Vel antigen on red blood cells. Vel is a high frequency antigen that shows variable strength, ranging from strong to weak. The rare Vel-negative blood type is inherited as an autosomal recessive trait and is typically unveiled when Vel-negative individuals develop anti-Vel antibodies after transfusion or pregnancy; Vel alloantibodies are never 'naturally occurring.' Individuals with anti-Vel antibodies may develop severe acute hemolytic transfusion reactions when transfused with Vel-positive blood. Individuals negative for the Vel antigen are rare and are required for the safe transfusion of patients with antibodies to Vel (summary by {3:Daniels, 2002}; {5:Storry et al., 2013}; {2:Cvejic et al., 2013}; {1:Ballif et al., 2013})." "" "true" + "obsolete body mass index quantitative trait locus 18" "" "true" + "obsolete blood group, gerbich system" "The Gerbich blood group system contains 6 high-prevalence and 5 low-prevalence antigens that are expressed on glycophorin C (GPC), glycophorin D (GPD), or both GPC and GPD. GPC and GPD, which contribute stability to the red blood cell membrane, are encoded by the same gene, GYPC, through the use of alternative translational start sites. Deficiency of GPC and GPD is associated with hereditary elliptocytosis, and Gerbich antigens act as receptors for the malarial parasite Plasmodium falciparum (see OMIM:611162). The Gerbich antibodies anti-Ge2 and anti-Ge3 have caused hemolytic transfusion reactions, and anti-Ge3 has produced hemolytic disease of the fetus and newborn (review by {12:Walker and Reid, 2010})." "" "true" + "myasthenic syndrome, congenital, 22" "" + "aortic aneurysm, familial thoracic 11, susceptibility to" "" + "congenital heart defects, dysmorphic facial features, and intellectual developmental disorder" "" + "congenital heart defects and ectodermal dysplasia" "" + "hyperphenylalaninemia due to DNAJC12 deficiency" "Mild non-BH4-deficient hyperphenylalaninemia (HPANBH4) is an autosomal recessive disorder characterized by increased serum phenylalanine usually detected by newborn screening and associated with highly variable neurologic defects, including movement abnormalities and intellectual disability. Laboratory analysis shows dopamine and serotonin deficiencies in the cerebrospinal fluid, and normal BH4 metabolism. Evidence suggests that treatment with neurotransmitter precursors can lead to clinical improvement or even prevent the neurologic defects if started in infancy (summary by {1:Anikster et al., 2017})." "" + "ectodermal dysplasia 13, hair/tooth type" "" + "neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination" "Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination is a syndromic form of severe to profound intellectual disability with onset of delayed psychomotor development and seizures in infancy. Affected children have hypotonia, feeding difficulties resulting in failure to thrive, and inability to speak or walk, and they tend to show repetitive stereotypic behaviors. Brain imaging shows cerebral atrophy and delayed myelination (summary by {1:Schoch et al., 2017})." "" + "bardet-biedl syndrome 21" "BBS21 is an autosomal recessive ciliopathy characterized by obesity, postaxial polydactyly, retinal degeneration, and mild cognitive impairment ({1:Heon et al., 2016}; {2:Khan et al., 2016}).nnFor a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (OMIM:209900)." "" + "Diamond-Blackfan anemia 16" "" + "Diamond-Blackfan anemia 17" "" + "brachycephaly, trichomegaly, and developmental delay" "BTDD is an autosomal dominant disorder characterized by brachycephaly, trichomegaly, and developmental delay. Although it is caused by dysfunction of the ribosome, patients do not have anemia (summary by {2:Paolini et al., 2017})." "" + "immunoskeletal dysplasia with neurodevelopmental abnormalities" "" + "intellectual disability, autosomal recessive 60" "" + "retinitis pigmentosa 78" "" + "craniosynostosis 7" "Craniosynostosis is a primary abnormality of skull growth involving premature fusion of the cranial sutures such that the growth velocity of the skull often cannot match that of the developing brain. This produces skull deformity and, in some cases, raises intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability (summary by {1:Fitzpatrick, 2013}).nnFor a discussion of genetic heterogeneity of craniosynostosis, see CRS1 (OMIM:123100)." "" + "thrombocytopenia, anemia, and myelofibrosis" "" + "premature ovarian failure 13" "" + "intellectual developmental disorder with gastrointestinal difficulties and high pain threshold" "IDDGIP is an autosomal dominant syndromic neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability with speech delay, and behavioral abnormalities. Most patients have variable additional features, including feeding and gastrointestinal difficulties, high pain threshold and/or hypersensitivity to sound, and dysmorphic features, including mild facial abnormalities, strabismus, and small hands and feet (summary by {1:Jansen et al., 2017})." "" + "intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies" "IDDFSDA is an autosomal recessive severe multisystem disorder characterized by poor overall growth, developmental delay, early-onset seizures, intellectual disability, and dysmorphic features. There is phenotypic variability. The most severely affected patients have a neurodevelopmental disorder with microcephaly, absent speech, and inability to walk, and they require feeding tubes. Some patients have congenital heart defects or nonspecific abnormalities on brain imaging. Less severely affected individuals have mild to moderate intellectual disability with normal speech and motor development (summary by {1:Santiago-Sim et al., 2017})." "" + "retinitis pigmentosa 79" "" + "structural heart defects and renal anomalies syndrome" "" + "intellectual developmental disorder with neuropsychiatric features" "Intellectual developmental disorder with neuropsychiatric features is an autosomal recessive disorder characterized by moderate intellectual disability, relatively mild seizures, and neuropsychiatric abnormalities, such as anxiety, obsessive-compulsive behavior, and autistic features. Mild facial dysmorphic features may also be present (summary by {2:Srour et al., 2017})." "" + "Rahman syndrome" "Rahman syndrome is characterized by mild to severe intellectual disability associated with variable somatic overgrowth manifest as increased birth length, height, weight, and/or head circumference. The overgrowth is apparent in infancy and may lessen with time or persist. The phenotype is highly variable; some individuals may have other minor anomalies, including dysmorphic facial features, strabismus, or camptodactyly. The disorder is thought to result from a defect in epigenetic regulation (summary by {1:Tatton-Brown et al., 2017})." "" + "Al Kaissi syndrome" "Al Kaissi syndrome is an autosomal recessive developmental disorder characterized by growth retardation, spine malformation, particularly of the cervical spine, dysmorphic facial features, and delayed psychomotor development with moderate to severe intellectual disability (summary by {1:Windpassinger et al., 2017})." "" + "Fanconi anemia, complementation group W" "" + "developmental delay and seizures with or without movement abnormalities" "DEDSM is a neurodevelopmental disorder characterized by global developmental delay, variable intellectual disability, and early-onset seizures with a myoclonic component. Most patients have delayed motor development and show abnormal movements, including ataxia, dystonia, and tremor (summary by {1:Hamdan et al., 2017})." "" + "polycystic liver disease 4 with or without kidney cysts" "An autosomal dominant disease characterized by adult-onset of liver cysts arising from the bile duct epithelium, caused by heterozygous mutation in the LRP5 gene. Some patients may develop a few kidney cysts, but these are often incidental and do not result in renal failure." "" + "short-rib thoracic dysplasia 20 with polydactyly" "Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by {1:Huber and Cormier-Daire, 2012} and {2:Schmidts et al., 2013}).nnThere is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, OMIM:218330)." "" + "osteogenesis imperfecta, type 18" "Osteogenesis imperfecta type XVIII (OI18) is characterized by congenital bowing of the long bones, wormian bones, blue sclerae, vertebral collapse, and multiple fractures in the first years of life ({1:Doyard et al., 2018})." "" + "hyperekplexia 4" "Hyperekplexia-4 is an autosomal recessive severe neurologic disorder apparent at birth. Affected infants have extreme hypertonia and appear stiff and rigid. They have little if any development, poor or absent visual contact, and no spontaneous movement, consistent with an encephalopathy. Some patients have early-onset refractory seizures, and many have inguinal or umbilical hernia. Most patients die in the first months of life due to respiratory failure or other complications (summary by {2:Piard et al., 2018}).nnFor a general description and a discussion of genetic heterogeneity of hyperekplexia, see HKPX1 (OMIM:149400)." "" + "genetic transient congenital hypothyroidism" "An instance of transient congenital hypothyroidism that is caused by an inherited modification of the individual's genome." "" + "childhood-onset benign chorea with striatal involvement" "" + "alcohol-induced Wernicke-Korsakoff's syndrome" "A syndrome which occurs in individuals with a history of alcohol abuse. It is caused by prolonged alcohol-induced neurological damage and malnutrition including vitamin and electrolyte deficiencies. Clinical signs include altered mental status, visual impairment and decreased muscle coordination. The clinical course varies and is, in part, dependent upon the severity of symptoms at presentation. The prognosis is poor and worsens if alcohol abuse continues." "" + "autoimmune primary ovarian failure" "An autoimmune form of primary ovarian failure." "" + "lumbar disc degenerative disorder" "Any degenerative disorder affecting one or more vertebral discs of the lumbar spine." "" + "thoracic disc degenerative disorder" "Any degenerative disorder affecting one or more vertebral discs of the thoracic spine." "" + "cervical disc degenerative disorder" "Any degenerative disorder affecting one or more vertebral discs of the cervical spine." "" + "Schistosoma japonicum infectious disease" "An infection that is caused by Schistosoma japonicum." "" + "hyperparathyroidism, primary, caused by water clear cell hyperplasia" "" + "Schistosoma intercalatum infectious disease" "An disease or disorder caused by infection with Schistosoma intercalatum." "" + "Rosai-Dorfman disease" "Rosai-Dorfman disease is a rare benign non-Langerhans cell histiocytosis characterized by the development of large painless histiocytic masses in the lymph nodes, predominantly of the cervical region. Extranodal involvement can also be observed, such as in the skin, respiratory tract, bones, genitourinary system, soft tissues, oral cavity, and central nervous system. Additional findings may include fever, malaise, epistaxis, night sweats, weight loss, leukocytosis, elevated erythrocyte sedimentation rate and hypergammaglobulinemia." "" + "isolated sternocostoclavicular hyperostosis" "Isolated sternocostoclavicular hyperostosis is a rare rheumatologic disease characterized by predominantly bilateral, chronic, sterile inflammation and progressive sclerosis and hyperostosis of the sternocostoclavicular joint, with adjacent soft tissue ossification, in the absence of other joint involvement. It presents as recurrent episodes of pain, edema and/or erythema of the sternoclavicular region. Palmoplantar pustulosis may be additionally observed in some cases." "" + "arthrogryposis-ectodermal dysplasia-other anomalies syndrome" "" + "X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome" "" + "CLCN4-related X-linked intellectual disability syndrome" "" + "propylthiouracil embryofetopathy" "Propylthiouracil embryofetopathy is a rare teratologic disease characterized by variable congenital anomalies resulting from maternal treatment and prenatal exposure to propylthiouracil. Anomalies frequently encountered include ear malformations (e.g. accessory auricle, preauricular sinus/fistula/cyst), urinary system malformations (e.g. isolated unilateral kidney, congenital hydronephrosis), gastrointestinal anomalies (e.g. congenital bands with intestinal malrotation) and cardiac defects (e.g. situs inversus dextrocardia, cardiac outflow tract defects)." "" + "16p12.1p12.3 triplication syndrome" "16p12.1p12.3 triplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial duplication of the short arm of chromosome 16 characterized by global developmental delay, pre- or post-natal growth delay and distinctive craniofacial features, including short palpebral fissures, epicanthal folds, bulbous nose, thin upper vermillion border, apparently low-set ears and large ear lobes. Variable clinical features that have been reported include congenital heart disease, genitourinary abnormalities, visual anomalies or, less commonly, infantile hepatic disease. Patients are also reported to have tapered fingers." "" + "EMILIN-1-related connective tissue disease" "" + "pediatric collagenous gastritis" "" + "autosomal dominant charcot-marie-tooth disease type 2 due to DGAT2 mutation" "" + "female infertility due to oocyte meiotic arrest" "" + "acute macular neuroretinopathy" "" + "six2-related frontonasal dysplasia" "" + "congenital amyoplasia" "" + "obsolete rere-related neurodevelopmental syndrome" "" "true" + "early-onset familial noncirrhotic portal hypertension" "" + "extracranial carotid artery aneurysm" "" + "idiopathic pleuroparenchymal fibroelastosis" "" + "retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome" "" + "diaph1-related sensorineural hearing loss-thrombocytopenia syndrome" "" + "obsolete rare hyperkinetic movement disorder" "True" "true" + "infantile-onset generalized dyskinesia with orofacial involvement" "" + "hypopharynx squamous cell carcinoma" "A squamous cell carcinoma that involves the hypopharynx." "" + "charcot-marie-tooth disease type 2T" "" + "9q33.3q34.11 microdeletion syndrome" "" + "c11orf73-related autosomal recessive hypomyelinating leukodystrophy" "" + "congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome" "" + "congenital agenesis of the scrotum" "" + "familial monosomy 7 syndrome" "" + "early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome" "" + "kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome" "" + "kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome" "" + "omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome" "" + "early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome" "" + "optic atrophy-peripheral neuropathy-developmental delay syndrome" "" + "epidermolytic nevus" "" + "MME-related autosomal dominant Charcot Marie Tooth disease type 2" "" + "menstrual cycle-dependent periodic fever" "" + "aquagenic palmoplantar keratoderma" "Aquagenic syringeal acrokeratoderma is a rare condition affecting the palms of the hands. It is characterized by the appearance or worsening of a palmar eruption, following brief exposure to water. The palmar eruption is made up of small, white or shining pimples that can conjoin into plaques. The feet are unaffected. Symptoms include a burning pain and a tightening sensation in the palms, as well as too much sweating. There are two variants. Most commonly, it is a temporary and recurrent condition that appears after submersion in water, known as the bhand in the bucket sign,b that gets better within minutes to hours of drying. A less common variant is characterized by persistent lesions that are worsened after water submersion. The cause of aquagenic syringeal acrokeratoderma is unknown, but likely relates to sweating. Several studies have found that it is present in about 40% to 84% of cystic fibrosis patients and also in carriers, which suggest that it may be caused by mutations in the CFTR gene. It is more often found in young women. Besides cystic fibrosis, it is also seen in wasting (marasmus) and nephrotic syndrome and also with the use of aspirin and other drugs such as rofecoxib and celecoxib. In most cases it does not need any treatment and resolves spontaneously. When necessary, it can be treated with topical aluminum chloride or salicylic acid ointment or with tap water iontophoresis." "" + "LRP5-related primary osteoporosis" "" + "obsolete short rib-polydactyly syndrome type 5" "" "true" + "MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome" "" + "limbic encephalitis with neurexin-3 antibodies" "" + "tuberculous meningitis" "" + "chronic relapsing inflammatory optic neuropathy" "" + "isolated optic neuritis" "" + "recurrent idiopathic neuroretinitis" "" + "optic perineuritis" "" + "early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome" "" + "SIN3A-related intellectual disability syndrome due to a point mutation" "" + "childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder" "" + "X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome" "" + "cochleovestibular dysplasia" "" + "mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome" "" + "metopic ridging-ptosis-facial dysmorphism syndrome" "" + "obsolete STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome" "" "true" + "4q25 proximal deletion syndrome" "" + "alkaline ceramidase 3 deficiency" "" + "erythema multiforme major" "A severe, sometimes life-threatening, form of erythema multiforme. It is considered to be a hypersensitivity skin reaction triggered by a variety of stimuli, including infections and medication. It is characterized by raised, edematous papules in the extremities; involvement of one or more mucous membranes; and epidermal detachment involving less than ten percent of the total body surface area." "" + "cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome" "" + "severe combined immunodeficiency due to LAT deficiency" "" + "3-methylglutaconic aciduria type 8" "" + "3-methylglutaconic aciduria type 9" "" + "combined immunodeficiency due to GINS1 deficiency" "" + "psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome" "" + "pancreatic carcinoma with mixed differentiation" "A rare carcinoma with a poor prognosis, characterized by the presence of a mixture of exocrine and neuroendocrine malignant epithelial cells in both the pancreas and metastatic sites. Symptoms include jaundice, abdominal pain, and weight loss." "" + "autosomal recessive complex spastic paraplegia due to kennedy pathway dysfunction" "" + "Gabriele de Vries syndrome" "" + "Stevens-Johnson syndrome/toxic epidermal necrolysis overlap syndrome" "" + "autosomal recessive epidermolytic ichthyosis" "" + "human anaplasmosis" "An infection that is caused by Anaplasma phagocytophilum, which is transmitted to humans by infected ticks; it is characterized by fever, headache, chills, and myalgia." "" + "anaplasmosis in cattle" "A disease of cattle caused by parasitization of the red blood cells by bacteria of the genus ANAPLASMA." "" + "lumbar spinal stenosis" "A spinal stenosis that involves the lumbar region of vertebral column." "" + "diarrheal disease secondary to increased bowel motility" "A diarrhea that results from increased motility in the bowel; significant increases in bowel motility can deliver excessively large volumes of stool to the colon. Diarrhea can result when the maximum colonic absorptive capacity of 4 liters a day is exceeded. Also, an alteration in colonic motility such that bowel contents are emptied before adequate absorption can occur has been offered as a possible explanation for the diarrhea associated with irritable bowel disease." "" + "diarrheal disease secondary to decreased bowel motility" "A diarrhea that results from decreased motility in the bowel; the resultant bowel stasis encourages bacterial overgrowth and subsequent bile salt deconjugation. Diarrhea is then the direct result of fat malabsorption and increased colonic secretion." "" + "obsolete Marfan Syndrome 3" "" "true" + "childhood adrenal gland pheochromocytoma" "A rare pheochromocytoma of the adrenal gland that occurs during childhood." "" + "vagus nerve paraganglioma" "A benign or malignant extra-adrenal parasympathetic paraganglioma arising from paraganglia in the vagus nerve. Patients may present with a slow growing, painless mass in the neck, hoarseness, vocal cord paralysis, and dysphagia." "" + "premature ovarian failure 10" "Premature ovarian failure-10 (POF10) represents a syndrome characterized by primary amenorrhea, hypergonadotropic ovarian insufficiency, and genomic instability in somatic cells.nnFor a general phenotypic description and discussion of genetic heterogeneity of premature ovarian failure, see POF1 (OMIM:311360).nnFor a discussion of genetic heterogeneity of age at natural menopause, see MENOQ1 (OMIM:300488)." "" + "premature ovarian failure 14" "" + "nephrotic syndrome of childhood - steroid sensitive" "Nephrotic syndrome, occurring in the pediatric population, characterized by the normalization of proteinuria with the administration of corticosteroids." "" + "solid papillary breast carcinoma" "A well circumscribed, low grade neoplasm that arises from the breast. It is characterized by the presence of sheets of malignant epithelial cells that are supported by fibrovascular structures. When there is an invasive component present, it is usually a mucinous carcinoma." "" + "myxoma" "A benign soft tissue neoplasm characterized by the presence of spindle and stellate cells, lobulated growth pattern, and myxoid stroma formation." "" + "desmoplastic melanoma" "A melanoma of the skin characterized by a proliferation of atypical spindled melanocytes in the dermis, in a background of abundant collagen. It usually presents as an amelanotic raised nodular lesion." "" + "solid pseudopapillary neoplasm of the pancreas" "A low-grade malignant neoplasm that arises from the exocrine pancreas. It is characterized by the presence of uniform cells that form solid and pseudopapillary patterns, cystic changes, and hemorrhage. Perineural invasion, vascular invasion, and invasion into surrounding tissues may be present. It usually presents as an encapsulated, solitary, and lobulated pancreatic mass. It is usually found incidentally during physical examination or it may present with abdominal discomfort and pain. It occurs predominantly in young women. Complete removal of the tumor is curative in the majority of cases." "" + "perihilar intrahepatic cholangiocarcinoma" "An intrahepatic cholangiocarcinoma that arises from the intrahepatic large bile ducts." "" + "obsolete congenital melanocytic nevus" "" "true" + "combined hepatocellular carcinoma and cholangiocarcinoma" "A rare tumor containing unequivocal elements of both hepatocellular and cholangiocarcinoma that are intimately admixed. This tumor should be distinguished from separate hepatocellular carcinoma and cholangiocarcinoma arising in the same liver. The prognosis of this tumor is poor." "" + "large congenital melanocytic nevus" "A large, or giant, congenital melanocytic nevus (LCMN or GCMN) is a pigmented skin lesion of more than 20 cm - or 40 cm- respectively, projected adult diameter, composed of melanocytes, and presenting with an elevated risk of malignant transformation." "" + "spitz nevus" "A benign, acquired or congenital, usually single skin lesion. It can occur on any area of the body, but most commonly occurs on the face of children and the thighs of young females. It is characterized by a proliferation of large spindle, oval, or large epithelioid melanocytes in the dermal-epidermal junction. The melanocytic proliferation subsequently extends into the dermis." "" + "benign melanocytic skin nevus" "A benign, circumscribed proliferation of melanocytes in the skin. Variants include the Spitz nevus, halo nevus, blue nevus, and balloon cell nevus." "" + "epithelioid cell nevus" "A nevus characterized by the presence of large epithelioid melanocytes." "" + "spindle cell nevus" "A nevus characterized by the presence of spindle-shaped melanocytes." "" + "desmoplastic nevus" "A benign melanocytic nevus characterized by the presence of desmoplastic stroma." "" + "desmoplastic spitz nevus" "A Spitz nevus associated with fibrous stroma formation." "" + "obsolete early onset primary dystonia" "" "true" + "idiopathic torsion dystonia" "Torsion dystonia for which no underlying cause has been identified." "" + "familial idiopathic torsion dystonia" "An instance of idiopathic torsion dystonia that is caused by an inherited modification of the individual's genome." "" + "acquired idiopathic torsion dystonia" "An instance of idiopathic torsion dystonia that is acquired during the lifetime of the individual." "" + "torsion dystonia" "" + "acquired torsion dystonia" "An instance of torsion dystonia that is acquired during the lifetime of the individual." "" + "dystonia, focal, task-specific" "" + "childhood myelodysplastic syndrome" "An uncommon hematologic malignancy occurring during childhood. Many of the morphologic, immunophenotypic, and genetic changes seen in adult myelodysplastic syndromes are also observed in the childhood variants of the disease. Children present with neutropenia and thrombocytopenia more often than adults, and bone marrow hypocellularity is more often seen in children than adults." "" + "refractory cytopenia of childhood" "The most common subtype of the myelodysplastic syndromes affecting children. It is characterized by persistent cytopenia with less than 5% blasts in the bone marrow and less than 2% blasts in the peripheral blood." "" + "coronary microvascular disease" "A disorder affecting the smallest coronary arteries. Causes include atherosclerosis and arterial spasm. Chest pain is a frequently observed symptom." "" + "drug hypersensitivity syndrome" "A potentially life-threatening hypersensitivity reaction to a pharmacologic substance that is characterized by rash, lymphadenopathy, fever, hematologic abnormalities and involvement of one or more internal organs." "" + "paraneoplastic cerebellar degeneration" "A rare, immune-mediated disorder characterized by cerebellar degeneration due to the presence of an often undetected malignancy (usually carcinoma or lymphoma) in an anatomic site other than the cerebellum. Signs and symptoms include progressive ataxia, dysarthria, and nystagmus." "" + "pancreatic mucinous-cystic neoplasm" "A non-invasive or invasive cystic epithelial neoplasm that affects almost exclusively females. It is characterized by the presence of columnar mucin-producing epithelial cells and ovarian-type stroma formation." "" + "cystic tumor of the pancreas" "" + "tonsillar lymphoma" "A primary lymphoma that affects the tonsil and the bulk of the tumor is in this anatomic area. The majority of cases are B-cell non-Hodgkin lymphomas." "" + "tonsillar lipoma" "A benign adipose tissue neoplasm of the tonsils." "" + "high grade B-cell lymphoma" "A term that refers to high grade B-cell lymphoma, not otherwise specified or high grade B-cell lymphoma with MYC and BCL2 and/or BCL6 rearrangements." "" + "myelofibrosis" "A partial or complete replacement of the bone marrow stroma by fibrous tissue. It can be a primary bone marrow lesion as part of the chronic myeloproliferative disorders (chronic idiopathic myelofibrosis), a manifestation of acute myeloid leukemia (acute panmyelosis with myelofibrosis), or a secondary phenomenon due to bone marrow involvement by a metastatic tumor (e.g., metastatic breast carcinoma). --2003" "" + "metastatic squamous cell carcinoma" "A squamous cell carcinoma which has spread from its original site of growth to another anatomic site." "" + "metastatic malignant neoplasm in the spinal cord" "A malignant neoplasm that has spread to the spinal cord from another anatomic site or system. Representative examples include carcinoma, lymphoma, and melanoma." "" + "metastatic malignant neoplasm in the eye" "A malignant neoplasm that has spread to the eye from another anatomic site." "" + "salivary duct carcinoma" "An aggressive, high grade adenocarcinoma that arises from the salivary glands. It usually affects elderly males and presents as a rapidly enlarging mass. It metastasizes to regional lymph nodes and distant anatomic sites." "" + "extrarenal rhabdoid tumor" "A rhabdoid tumor which arises in the soft tissues. It occurs in infants and children and may be associated with loss of chromosome 22. It is characterized by the presence of cells with a large eccentric nucleus, prominent nucleolus, and abundant cytoplasm." "" + "T-lymphoblastic lymphoma" "The most frequent type of lymphoblastic lymphoma. It comprises approximately 85-90% of cases. It is more frequently seen in adolescent males. It frequently presents with a mass lesion in the mediastinum. Pleural effusions are common. (WHO, 2001)" "" + "atypical lymphoproliferative disorder" "" + "premalignant hematological system disease" "A hematologic disorder which does not display the morphologic and/or clinical characteristics of an overt malignancy. Representative examples include atypical lymphoproliferative disorders and myelodysplastic syndromes." "" + "acute myeloid leukemia with mutated NPM1" "An acute myeloid leukemia with mutation of the nucleophosmin gene. It is usually associated with normal karyotype and frequently has myelomonocytic or monocytic features. It usually responds to induction therapy." "" + "obsolete acute myeloid leukemia with mutated CEBPA" "" "true" + "paranasal sinus mucoepidermoid carcinoma" "A rare carcinoma that arises from the paranasal sinus. It is characterized by the presence of epidermoid cells, mucus producing cells, and cells of intermediate type." "" + "obsolete disease of membrane bound organelle" "" "true" + "obsolete disease of macromolecular complex" "" "true" + "obsolete disease of supramolecular complex" "" "true" + "obsolete disease of transporter activity" "" "true" + "obsolete disease of catalytic activity" "" "true" + "obsolete disease of receptor activity" "" "true" + "disease of cell nucleus" "" + "obsolete disease by cell type" "" "true" + "obsolete disease of signal transduction" "" "true" + "pseudoallergy" "" + "drug pseudoallergy" "" + "midbrain disease" "A disease or disorder that involves the midbrain." "" + "carpal region disease" "A disease or disorder that involves the carpal region." "" + "cholesterol metabolism disease" "A disease that has its basis in the disruption of cholesterol metabolic process." "" + "obsolete sucrose intolerance disease" "" "true" + "acquired adrenogenital syndrome" "An instance of adrenogenital syndrome that is acquired during the lifetime of the individual." "" + "" "true" + "obsolete radiation or chemically induced disorder" "A disease or disorder that is induced by either chemical or radiation exposure." "" "true" + "obsolete Deuteromycetes infectious disease" "" "true" + "obsolete infectious diarrheal disease" "" "true" + "infectious disease characteristic" "" + "hyalohyphomycosis" "An opportunistic infection caused by a heterogeneous group of mitosporic fungi with clear (hyalo-) hyphae in the host. Common causative agents include acremonium; aspergillus; chrysosporium; fusarium; paecilomyces; penicillium; pseudallescheria; scedosporium; and scopulariopsis. Normally a dermatomycoses, it can become invasive in the immunocompromised host." "" + "cutaneous basidiobolomycosis" "" + "systemic basidiobolomycosis" "" + "osteogenic neoplasm" "A benign, intermediate, or malignant bone-forming neoplasm. Representative examples include osteoma, osteoblastoma, and osteosarcoma." "" + "cribriform carcinoma of breast" "" + "intraductal cribriform breast adenocarcinoma" "A ductal carcinoma in situ of the breast characterized by the presence of a cribriform architectural pattern." "" + "minor salivary gland adenoid cystic carcinoma" "An aggressive carcinoma that arises from the minor salivary glands. It is characterized by the presence of malignant epithelial and myoepithelial cells forming cribriform, tubular, and solid patterns. It usually presents as a slow growing mass." "" + "myopia 26, X-linked, female-limited" "" + "intellectual disability, X-linked 107" "" + "osteogenesis imperfecta, type 19" "" + "peroxisome biogenesis disorder 10B" "" + "avascular necrosis of femoral head, primary, 1" "" + "avascular necrosis of femoral head, primary, 2" "" + "congenital disorder of glycosylation, type IIq" "" + "anauxetic dysplasia 1" "" + "anauxetic dysplasia 2" "" + "short-rib thoracic dysplasia 17 with or without polydactyly" "" + "Lopes-Maciel-Rodan syndrome" "" + "bleeding disorder, platelet-type, 21" "" + "Townes-Brocks syndrome 1" "" + "Townes-Brocks syndrome 2" "" + "Noonan syndrome-like disorder with loose anagen hair 2" "" + "Stankiewicz-Isidor syndrome" "A neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, behavioral disorders, mild craniofacial anomalies, and variable congenital defects of the cardiac and/or urogenital systems." "" + "microcephaly 18, primary, autosomal dominant" "" + "pituitary adenoma 5, multiple types" "" + "gaze palsy, familial horizontal, with progressive scoliosis, 2" "" + "spermatogenic failure 18" "" + "Skraban-Deardorff syndrome" "" + "Noonan syndrome-like disorder with loose anagen hair 1" "" + "combined oxidative phosphorylation deficiency 32" "" + "pituitary adenoma 3, multiple types" "" + "ovarian dysgenesis 5" "" + "pontocerebellar hypoplasia, type 11" "" + "combined oxidative phosphorylation deficiency 33" "" + "epiphyseal dysplasia, multiple, 7" "" + "immunodeficiency, common variable, 14" "" + "myopathy, centronuclear, 6, with fiber-type disproportion" "" + "immunodeficiency 53" "" + "immunodeficiency 11b with atopic dermatitis" "" + "proteasome-associated autoinflammatory syndrome 1" "" + "proteasome-associated autoinflammatory syndrome 3" "" + "proteasome-associated autoinflammatory syndrome 2" "" + "Kleefstra syndrome 2" "" + "retinitis pigmentosa 80" "" + "microcephaly 19, primary, autosomal recessive" "" + "geleophysic dysplasia 3" "" + "spermatogenic failure 19" "" + "spermatogenic failure 20" "" + "spermatogenic failure 21" "" + "spermatogenic failure 22" "" + "spermatogenic failure 23" "" + "spermatogenic failure 24" "" + "spermatogenic failure 25" "" + "spermatogenic failure 26" "" + "spermatogenic failure 27" "" + "spermatogenic failure 28" "" + "spermatogenic failure 29" "" + "mosaic variegated aneuploidy syndrome 3" "" + "Fraser syndrome 1" "" + "Fraser syndrome 2" "" + "Fraser syndrome 3" "" + "blepharocheilodontic syndrome 1" "Any blepharo-cheilo-odontic syndrome in which the cause of the disease is a mutation in the CDH1 gene." "" + "combined oxidative phosphorylation deficiency 34" "" + "combined oxidative phosphorylation deficiency 35" "" + "polycystic liver disease 3 with or without kidney cysts" "Any polycystic kidney disease in which the cause of the disease is a mutation in the ALG8 gene, that presents with or without kidney cysts." "" + "Fanconi anemia, complementation group S" "" + "obsolete body mass index quantitative trait locus 19" "" "true" + "amyotrophic lateral sclerosis, susceptibility to, 24" "" + "multiple synostoses syndrome 4" "" + "encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8" "" + "microcephaly 20, primary, autosomal recessive" "" + "neurodegeneration with brain iron accumulation 7" "" + "neurodegeneration with brain iron accumulation 8" "" + "amyloidosis, primary localized cutaneous, 3" "" + "orofaciodigital syndrome 18" "" + "keratoconus 9" "" + "epilepsy, familial focal, with variable foci 4" "" + "elliptocytosis 3" "" + "combined oxidative phosphorylation deficiency 36" "" + "leukodystrophy, hypomyelinating, 15" "" + "multiple mitochondrial dysfunctions syndrome 6" "" + "leukodystrophy, hypomyelinating, 16" "" + "hydrocephalus, congenital, 3, with brain anomalies" "" + "erythrocytosis, familial, 6" "" + "erythrocytosis, familial, 7" "" + "microcephaly 21, primary, autosomal recessive" "" + "microcephaly 22, primary, autosomal recessive" "" + "microcephaly 23, primary, autosomal recessive" "" + "Ehlers-Danlos syndrome, classic-like, 2" "" + "leukodystrophy, hypomyelinating, 17" "" + "Coffin-Siris syndrome 7" "" + "corneal dystrophy, posterior polymorphous, 4" "" + "charcot-marie-tooth disease, axonal, type 2DD" "" + "parkinsonism-dystonia, infantile, 1" "" + "parkinsonism-dystonia, infantile, 2" "" + "intellectual disability, autosomal dominant 57" "" + "cardiomyopathy, familial hypertrophic 27" "" + "polycystic kidney disease 6 with or without polycystic liver disease" "Any polycystic kidney disease in which the cause of the disease is a mutation in the DNAJB11 gene." "" + "ciliary dyskinesia, primary, 38" "" + "pontocerebellar hypoplasia, type 1D" "" + "developmental and epileptic encephalopathy, 66" "" + "epilepsy, familial adult myoclonic, 6" "" + "epilepsy, familial adult myoclonic, 7" "" + "inflammatory bowel disease 29" "" + "ovarian dysgenesis 6" "" + "peeling skin syndrome 6" "" + "hearing loss, autosomal recessive 110" "" + "intellectual disability, autosomal recessive 63" "" + "premature ovarian failure 15" "" + "disorder of defective peroxisomal and mitochondrial fission" "A disease that has its basis in the disruption of peroxisome and mitochondrial fission." "" + "sudden arrhythmia death syndrome" "" + "paraomphalocele" "" + "nondystrophic myotonia" "" + "X-linked spermatogenic failure 1" "" + "obstructive nephropathy" "Renal damage and impaired renal function secondary to urinary tract obstruction." "" + "neurodevelopmental disorder with midbrain and hindbrain malformations" "" + "benign peripheral nerve granular cell tumor" "A benign granular cell tumor that involves the nerve." "" + "hormone-resistant breast carcinoma" "Breast carcinoma that does not respond to hormone therapy." "" + "hormone-resistant prostate carcinoma" "Prostate carcinoma that does not respond to hormone therapy." "" + "rectal adenosquamous carcinoma" "An unusual rectal carcinoma characterized by the presence of glandular and squamous carcinomatous components. The two carcinomatous components may be admixed within the tumor, or the two may appear separately in different areas." "" + "skin adenosquamous carcinoma" "An uncommon carcinoma that arises from the skin. It is characterized by the presence of malignant glandular and malignant squamous cellular components." "" + "nasal cavity and paranasal sinus neoplasm" "A benign or malignant neoplasm that affects the nasal cavity or paranasal sinuses. Representative examples of benign neoplasms include Schneiderian papilloma and salivary gland-type adenoma. Representative examples of malignant neoplasms include carcinoma and lymphoma." "" + "bronchiolitis obliterans organizing pneumonia" "Bronchiolitis obliterans organizing pneumonia (BOOP) is a lung disease that causes inflammation in the small air tubes (bronchioles) and air sacs (alveoli). BOOP typically develops in individuals between 40-60 years old; however the disorder may affect individuals of any age. The signs and symptoms of BOOP vary but often include shortness of breath, a dry cough, and fever. BOOP can be caused by viral infections, various drugs, and other medical conditions. If the cause is known, the condition is called secondary BOOP. In many cases, the underlying cause of BOOP is unknown. These cases are called idiopathic BOOP or cryptogenic organizing pneumonia. Treatment often includes corticosteroid medications." "" + "amyotonia congenita" "" + "X-linked congenital hemolytic anemia" "" + "cerebral sclerosis, diffuse, scholz type" "" + "autoinflammation with arthritis and dyskeratosis" "" + "arthrogryposis multiplex congenita 1, neurogenic, with myelin defect" "" + "46,XX sex reversal 4" "" + "neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies" "" + "neurodevelopmental disorder with involuntary movements" "" + "neurodevelopmental disorder with hypotonia, neuropathy, and deafness" "" + "neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies" "" + "retinal dystrophy with or without macular staphyloma" "" + "Cohen-Gibson syndrome" "" + "maleylacetoacetate isomerase deficiency" "" + "congenital heart defects and skeletal malformations syndrome" "" + "microcephaly, short stature, and limb abnormalities" "" + "congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay" "" + "polydactyly, postaxial, type a7" "" + "cerebellar atrophy, developmental delay, and seizures" "" + "vertebral, cardiac, renal, and limb defects syndrome 1" "" + "vertebral, cardiac, renal, and limb defects syndrome 2" "" + "joint laxity, short stature, and myopia" "" + "encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities" "" + "HELIX syndrome" "" + "Pilarowski-Bjornsson syndrome" "" + "neurodevelopmental disorder with microcephaly, ataxia, and seizures" "" + "neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures" "" + "auditory neuropathy-optic atrophy syndrome" "" + "platelet abnormalities with eosinophilia and immune-mediated inflammatory disease" "" + "neuronopathy, distal hereditary motor, type 9" "" + "facial palsy, congenital, with ptosis and velopharyngeal dysfunction" "" + "immunodeficiency, developmental delay, and hypohomocysteinemia" "" + "Sweeney-Cox syndrome" "" + "actn3 deficiency" "" + "neurodevelopmental disorder with dysmorphic facies and distal limb anomalies" "" + "combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia" "" + "neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy" "" + "neurodevelopmental disorder with severe motor impairment and absent language" "" + "neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter" "" + "glycosylphosphatidylinositol biosynthesis defect 15" "" + "neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive" "" + "Alkuraya-Kucinskas syndrome" "" + "neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy" "" + "neurodevelopmental disorder with or without seizures and gait abnormalities" "" + "neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features" "" + "obsolete short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies" "" "true" + "Leber congenital amaurosis with early-onset deafness" "" + "neurodevelopmental disorder with poor language and loss of hand skills" "" + "Diamond-Blackfan anemia-like" "" + "congenital heart defects, multiple types, 5" "" + "neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities" "" + "hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome" "" + "amyotrophic lateral sclerosis, susceptibility to, 25" "" + "epilepsy, juvenile myoclonic, susceptibility to, 10" "" + "chromosome 1p35 deletion syndrome" "" + "hyperthyroxinemia, euthyroid, caused by generalized 5-prime-deiodinase deficiency" "" + "phenytoin toxicity" "" + "spondyloepimetaphyseal dysplasia, di rocco type" "" + "neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures" "" + "Ververi-Brady syndrome" "" + "Jaberi-Elahi syndrome" "" + "developmental delay, intellectual disability, obesity, and dysmorphic features" "" + "deafness, congenital heart defects, and posterior embryotoxon" "" + "tumoral calcinosis, hyperphosphatemic, familial, 2" "" + "tumoral calcinosis, hyperphosphatemic, familial, 3" "" + "obsolete neurodevelopmental disorder with brain, liver, and lung abnormalities" "" "true" + "glycosylphosphatidylinositol biosynthesis defect 17" "" + "protoporphyria, erythropoietic, 2" "" + "tetraamelia syndrome 2" "" + "humerofemoral hypoplasia with radiotibial ray deficiency" "" + "intellectual developmental disorder with or without epilepsy or cerebellar ataxia" "" + "neurodevelopmental disorder with spasticity and poor growth" "" + "spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits" "" + "neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures" "" + "intellectual developmental disorder with dysmorphic facies and behavioral abnormalities" "" + "neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum" "" + "intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities" "" + "tetraamelia syndrome 1" "" + "gingival fibroepithelial polyp" "A non-neoplastic nodular lesion that arises from the gingiva. It is composed of epithelial cells lining connective tissue stroma." "" + "vaginal fibroepithelial polyp" "A superficial polypoid lesion that arises from the vagina. It is characterized by the presence of a fibroblastic stroma which is often myxoid, covered by squamous epithelial cells." "" + "cervical fibroepithelial polyp" "A usually solitary polypoid lesion that arises from the cervix. It usually affects women in their reproductive years. It is characterized by the presence of a connective tissue core and overlying epithelium." "" + "adult Fanconi syndrome" "Probably related to a recessive gene, this is Fanconi Syndrome, characterised by adult onset." "" + "acquired Fanconi syndrome" "Fanconi Syndrome caused by exposure to noxious agents." "" + "Preeyasombat-Varavithya syndrome" "" + "alpha-gal syndrome" "An IgE antibody response to a mammalian oligosaccharide epitope, galactose-alpha-1,3-galactose (alpha-gal)." "" + "food protein-induced allergic proctocolitis" "A benign inflammatory colitis caused by a non-IgE-mediated immune reaction to ingested food proteins." "" + "susceptibility to angioedema induced by ACE inhibitors" "An inherited susceptibility or predisposition to developing renin-angiotensin-aldosterone system-blocker-induced angioedema." "" + "mast cell activation syndrome" "A clinically defined disease states with a largely unknown morphological background. Acute mast cell activation (MCA) is commonly seen in allergic reactions and often leads to the clinical signs and symptoms of anaphylaxis. Severe or even life‐threatening MCA may occur when the burden of mast cells is high and/or these cells are in an hyperactivated state. Mastocytosis may be associated with mast cell activation syndrome (MCAS)." "" + "primary mast cell activation syndrome" "Mast cell activation syndrome where KIT-mutated and clonal mast cells are detected." "" + "secondary mast cell activation syndrome" "Mast cell activation syndrome where an underlying inflammatory disease is present, often in the form of an IgE-dependent allergy, but there are no KIT-mutated mast cells." "" + "obsolete chronic inflammatory demyelinating polyneuropathy" "" "true" + "food protein-induced enterocolitis syndrome" "An eosinophilic gastrointestinal disorder triggered by food that is non-IgE-mediated." "" + "tendinosis" "The chronic degeneration of a tendon without inflammation." "" + "paratenonitis" "Inflammation of the outer layer of the tendon (paratenon) alone, whether or not the paratenon is lined by synovium." "" + "paratenonitis with tendinosis" "Paratenonitis associated with intratendinous degeneration." "" + "autoimmune retinopathy" "An autoimmune disease characterized by sudden onset of photopsias and scotomata in patients with no family history of retinitis pigmentosa, followed by visual field and central vision loss." "" + "adult-onset segmental dystonia" "" + "adult onset pityriasis rubra pilaris" "A pityriasis rubra pilaris that occurs around the fifth or sixth decade of life." "" + "ECHS1-related paroxysmal dyskinesia" "A paroxysmal dyskinesia which manifest as dystonic movements brought on by sustained exercise, that is correlated with a deficiency in the gene ECHS1 (caused by a missence mutation). Onset is typically between age two and four years." "" + "atypical childhood epilepsy with centrotemporal spikes" "A childhood-onset epilepsy that is characterized by frequent seizures of multiple types, including nocturnal focal motor and fronto-parietal opercular seizures, and daytime focal motor seizures with negative myoclonus and atypical absence seizures. Centrotemporal sharp waves are seen on EEG. During the phase of the epilepsy when seizures are frequent, neuropsychological deficits and motor impairment may be present. These deficits improve when seizures remit." "" + "photosensitive occipital lobe epilepsy" "A childhood-onset epilepsy that is characterized by the presence of visually-induced focal occipital lobe seizures. A proportion of patients with this syndrome have developmental delays and learning difficulty." "" + "self-limited familial and non-familial neonatal seizures" "A neonatal/infantile epilepsy sndrome that is characterized by the onset of seizures that start in the in the neonate between day 4 and 7 of life and are often unilateral clonic events that recur and may alternate sides from seizure to seizure. Seizures can be repetitive over hours to days. Seizures remit by 4-6 months of age. A proportion of those affected may have seizures in later life. The child is expected to have normal developmental progress." "" + "self-limited familial and non-familial infantile seizures" "This syndrome is characterized by the onset of seizures between 3 and 20 months of age (peak 6 months). Seizures may be frequent at onset but usually remit within 1 year from the onset. In untreated cases there can be isolated or brief clusters of seizures within the period from onset to remission. A minority of individuals may have epilepsy in later life. Some patients (with PRRT2 mutations) may develop paroxysmal kinesiogenic dyskinesia in later life." "" + "epilepsy of infancy with migrating focal seizures" "This syndrome is characterized by onset of refractory focal seizures in the first year of life, with associated severe encephalopathy. Focal seizures arise independently in both hemispheres and can migrate from one cortical region to another randomly but consecutively in the same seizure. Seizures are often prolonged with episodes of status epilepticus. Prognosis is poor with severe neurological disability and reduced life expectancy, although a milder evolution has been reported in a few children." "" + "myoclonic encephalopathy in non-progressive disorder" "This group of epilepsies are typically is characterized by onset of seizures from day 1 of life to 5 years (peak 12 months). Both sexes are affected, however the male to female ratio is 1:2. Antecedent (including birth) history, head size, neurological and developmental findings reflect the underlying cause (if known). Myoclonic status epilepticus is often the initial presenting seizure type, however other initial seizure types may also occur. Prognosis is unfavorable with severe neurological and developmental impairments typically seen." "" + "obsolete febrile seizures plus, genetic epilepsy with febrile seizures plus" "" "true" + "adolescent/adult onset autosomal dominant epilepsy with auditory features" "A genetic focal epilepsy, with focal sensory auditory seizures seen in family members. Seizures often comprise such mild symptoms that they are undiagnosed. There are no implications expected for development or learning and seizures are typically infrequent and well controlled." "" + "familial temporal lobe epilepsy syndrome" "This syndrome is identified in an individual who has seizures with temporal lobe features with a family history of similar seizures. Seizures often comprise such mild symptoms that they are undiagnosed. There are no implications expected for development or learning and seizures are typically infrequent and well controlled." "" + "cerebral folate deficiency" "Cerebral folate deficiency is defined as a neurological syndrome associated with low CSF 5-methyltetrahydrofolate (5MTHF), the active folate metabolite, in the presence of normal folate metabolism outside the nervous system. Cerebral folate deficiency can result from either disturbed folate transport or from increased folate turnover within the central nervous system." "" + "juvenile onset pityriasis rubra pilaris" "A pityriasis rubra pilaris that has a juvenile onset. The peak incidence has a bimodal distribution, with the first peak at age six to seven yearss. The classical childhood-onset subtype of PRP usually develops in the late teenage years but may also be seen in the first few years of life." "" + "secondary trimethylaminuria" "A type of trimethylaminuria that occurs as the result of treatment with large doses of dietary precursors of the offending chemical. Symptoms develop when the ability of the liver enzyme (flavin-containing monooxygenase 3) is insufficient to break down (metabolize) the excess trimethylamine." "" + "acrofrontofacionasal dysostosis 1" "" + "Usher syndrome, type 1D/F" "Any Usher syndrome in which the cause of the disease is a mutation in the CDH23 and PCDH15 genes." "" + "idiopathic mast cell activation syndrome" "Mast cell activation syndrome where neither an allergy or other underlying disease is association, nor KIT-mutated mast cells are detectable." "" + "acetazolamide-responsive hereditary episodic ataxia" "Periodic spells of incoordination and imbalance, that is, episodes of ataxia typically lasting from 10 minutes to several hours or days, with improvement upon therapy with acetazolamide." "" + "anaphylaxis" "An acute hypersensitivity reaction that occurs from exposure to an allergen. It results from the release of histamine and histamine-like substances from mast cells, and can present with breathing difficulty due to narrowed airways, dizziness and hypotension, skin rash, weak pulse, nausea and vomiting." "" + "idiopathic anaphylaxis" "Idiopathic anaphylaxis is a rare form of anaphylaxis for which triggers cannot be identified despite a detailed history and careful diagnostic assessment." "" + "intraosseous spindle cell rhabdomyosarcoma with TFCP2/NCOA2 rearrangements" "Intraosseous spindle cell rhabdomyosarcoma characterized by the fusion of the EWSR1 or FUS gene with the TFCP2 gene, or the MEIS1 gene with the NCOA2 gene." "" + "exercise-induced anaphylaxis" "A rare disorder in which anaphylaxis occurs in association with physical activity." "" + "food-dependent exercise-induced anaphylaxis" "A subset of exercise-induced anaphylaxis in which symptoms develop if exertion takes place within a few hours of eating a specific food. In the case of food-dependent exercise-induced anaphylaxis, neither the food nor the exercise alone is enough to cause anaphylaxis." "" + "hypereosinophilia of undetermined significance" "Long-lasting, unexplained and asymptomatic blood hypereosinophilia." "" + "congenital/infantile spindle cell rhabdomyosarcoma with VGLL2/NCOA2/CITED2 rearrangements" "Congenital/infantile spindle cell rhabdomyosarcoma characterized by the presence of gene fusions involving the VGLL2, SRF, TEAD1, NCOA2, and CITED2 genes." "" + "PRPS1 deficiency disorder" "A peripheral neuropathy that is characterized by variants in PRPS1, which causes decreased or impaired function of the PRPS1 enzyme, and presents as a range of peripheral neuropathies that can include features of Charcot-Marie Tooth syndrome, Arts syndrome, or nonsyndromic hearing loss." "" + "Pericytoma with t(7;12)" "A rare soft tissue neoplasm that displays a perivascular pattern of spindle-to-ovoid cell proliferation." "" + "TH-deficient infantile parkinsonism and motor delay" "A tyrosine hydroxylase deficiency with onset typically between age three and 12 months. Motor milestones are overtly delayed in this severe form. Affected infants demonstrate truncal hypotonia and parkinsonian symptoms and signs (hypokinesia, rigidity of extremities, and/or tremor)." "" + "TH-deficient progressive infantile encephalopathy" "A tyrosine hydroxylase deficiency in which individuals are extremely sensitive to levodopa therapy. In this very severe form, treatment with levodopa is often limited by intolerable dyskinesias." "" + "childhood spindle cell rhabdomyosarcoma" "A spindle cell rhabdomyosarcoma occurring in children." "" + "SLC10A7-CDG" "SLC10A7 deficiency is characterized by compound heterozygous mutations in the SLC10A7 gene, a gene of unknown function in humans. It combines overlapping clinical phenotypes characterized by short stature, defective enamel formation (amelogenesis imperfecta), skeletal dysplasia, facial dysmorphism, moderate hearing impairment and mildly impaired intellectual developmen." "" + "hearing impairment and infertile male syndrome" "A syndromic genetic deafness characterized by segregation of nonsyndromic hearing loss in females and hearing loss with infertility in males. Affected males have been reported to have low count to absent sperm, immobile sperm, and/or sperm with abnormal morphology." "" + "cardiocutaneous syndrome" "Cardiocutaneous syndromes are those in which phenotypic manifestations occur in the heart, skin, and/or hair. Variation in the genes of interest may occur in both an autosomal dominant inheritance pattern and autosomal recessive, which may lead to earlier and/or more severe phenotypic presentation." "" + "neonatal diabetes, congenital sensorineural hearing loss and congenital cataracts" "Neonatal diabetes, congenital sensorineural hearing loss and congenital cataracts is characterized by the three primary phenotypes of neonatal diabetes, congenital sensorineural hearing loss and congenital cataracts. Cases have reported additional varying phenotypes, including optic atrophy, hypothyroidism, severe neonatal hypotonia in males, developmental delay, facial abnormalities, and a few other more rare phenotypes. The severity and congenital onset of the phenotypes distinguish these patients from Wolfram-like syndrome patients." "" + "methicillin-resistant staphylococcus aureus infectious disease" "Infections caused by a strain of Staphylococcus aureus that is non-susceptible to the action of the antibiotic, methicillin. The mechanism of resistance usually involves modification of normal or the presence of acquired penicillin binding proteins." "" + "norovirus infectious disease" "Infections caused by viruses of the genus in the family caliciviridae, which is associated with epidemic gastroenteritis in humans." "" + "jaw fracture" "A traumatic or pathologic injury to the jaw in which the continuity of the bone is broken." "" + "juvenile idiopathic scoliosis" "A scoliosis with no known cause arising in a juvenile." "" + "congenital alveolar dysplasia" "A congenital alveolar dysplasia characterized anatomically by a defective and hypoplastic development of pulmonary alveoli that is commonly associated with atelectasis and can be responsible for atelectasis." "" + "resistant hypertension" "A severe medical condition which is estimated to appear in 9-18% of hypertensive patients, in which treatement with 3 or more antihypertensive drugs including diuretics are ineffective." "" + "developmental and epileptic encephalopathy, 6" "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SCN1A gene." "" + "LEOPARD syndrome 1" "Any Noonan syndrome with multiple lentigines in which the cause of the disease is a heterozygous mutation in the PTPN11 gene on chromosome 12q24." "" + "hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1" "This is an autosomal dominant disorder caused by mutations in the RUNX1 gene and is characterized by mild to moderate thrombocytopenia, platelet functional and/or ultrastructural defects and a predisposition to hematologic malignancies, most often AML and MDS, and less frequently T-ALL." "" + "cancer of long bone of upper limb" "A cancer that involves the upper limb long bone." "" + "late-onset familial alzheimer disease" "A form of familial Alzheimer disease, that begins after age 65." "" + "congenital alveolar dysplasia due to FGF10" "Any congenital alveolar dysplasia in which the cause of the disease is a mutation in the FGF10 gene." "" + "myoclonus, familial, 2" "Familial cortical myoclonus caused by heterozygous mutation in the SCN8A gene on chromosome 12q13." "" + "myoclonus, familial, 1" "Familial cortical myoclonus caused by heterozygous mutation in the NOL3 gene on chromosome 16q22." "" + "cannabinoid hyperemesis syndrome" "A syndrome of cyclic vomiting associated with cannabis use. Fourteen diagnostic characteristics have been identified, and the frequency of major characteristics is as follows: history of regular cannabis for any duration of time (100%), cyclic nausea and vomiting (100%), resolution of symptoms after stopping cannabis (96.8%), compulsive hot baths with symptom relief (92.3%), male predominance (72.9%), abdominal pain (85.1%), and at least weekly cannabis use (97.4%). Supportive care with intravenous fluids, dopamine antagonists, topical capsaicin cream, and avoidance of narcotic medications has shown some benefit in the acute setting. Cannabis cessation appears to be the best treatment." "" + "COVID-19" "A disease caused by infection with severe acute respiratory syndrome coronavirus 2." "" + "SARS-CoV-2-related disease" "A viral disease or post-viral disorder caused by infection with severe acute respiratory syndrome coronavirus 2 or the associated aftereffects of the disease." "" + "congenital alveolar dysplasia due to TBX4" "Any congenital alveolar dysplasia in which the cause of the disease is a mutation in the TBX4 gene." "" + "retrograde cricopharyngeus dysfunction" "A syndrome characterized by the inability to belch, abdominal bloating and discomfort/nausea, or chest pain, especially after eating, socially awkward gurgling noises from the chest and lower neck as though the esophagus is churning and straining to eject the air, excessive flatulence, social inhibition, and difficulty vomiting (common but not universal). Botulinum toxin (BT) injection into the cricopharyngeus muscle (CPM) is done for both diagnosis and treatment of R-CPD." "" + "fetal akinesia deformation sequence 1" "Any fetal akinesia deformation sequence in which the cause of the disease is a mutation in the MUSK gene." "" + "fetal akinesia deformation sequence 2" "Any fetal akinesia deformation sequence in which the cause of the disease is a mutation in the RAPSN gene." "" + "fetal akinesia deformation sequence 3" "Any fetal akinesia deformation sequence in which the cause of the disease is a mutation in the DOK7 gene." "" + "fetal akinesia deformation sequence 4" "Any fetal akinesia deformation sequence in which the cause of the disease is a mutation in the NUP88 gene." "" + "brain small vessel disease 3" "An autosomal recessive disorder resulting from fragility of cerebral vessels causing an increased risk of intracranial bleeding. The resultant phenotype is highly variable depending on timing and location of the intracranial bleed. Some patients may have onset in utero or early infancy, with subsequent global developmental delay, spasticity, and porencephaly on brain imaging. Other patients may have normal or mildly delayed development with sudden onset of intracranial hemorrhage causing acute neurologic deterioration." "" + "neonatal epileptic encephalopathy" "A form of age-related epileptic encephalopathy, characterized by the onset of seizures within the first 4 weeks of life that can be generalized or lateralized, independent of the sleep cycle, and that can result in frequent seizures per day, leading to psychomotor impairment and death." "True" + "non-neonatal early infantile epileptic encephalopathy" "Non-neonatal early-onset epileptic encephalopathy is a form an of age-related epileptic encephalopathies, characterized by the onset of seizures later than the first 4 weeks of life but within the first three months. Seizures can be generalized or lateralized, independent of the sleep cycle and can occur multiple times per day, leading to psychomotor impairment and death." "" + "Zinner syndrome" "A rare condition comprising a triad of unilateral renal agenesis, ipsilateral seminal vesicle obstruction and ipsilateral ejaculatory duct obstruction." "" + "adenovirus renal infection" "" + "focal segmental glomerulosclerosis and neurodevelopmental syndrome" "A Mendelian diseases characterized by global developmental delay and renal dysfunction manifest as proteinuria and nephrotic syndrome apparent from infancy or early childhood. Some patients present with renal disease, whereas others present with developmental delay and develop renal disease later in childhood. Renal biopsy shows focal segmental glomerulosclerosis (FSGS), but the course of the disease is variable: some patients have transient proteinuria and others require renal transplant. Neurodevelopmental features are also variable, with some patients having only mildly impaired intellectual development, and others having a severe developmental disorder associated with early-onset refractory seizures or epileptic encephalopathy. Additional features, including feeding difficulties, poor overall growth, and nonspecific dysmorphic facial features, are commonly observed." "" + "acyl-CoA binding domain containing protein 5 deficiency" "A disorder of a single peroxisomal protein, acyl-CoA binding domain containing protein 5, which forms a contact site between the peroxisomes and the ER. The deficiency is characterized by elevated blood very long-chain fatty acids (VLCFAs), retinal dystrophy, cerebral white matter disease and psychomotor delay." "" + "hearing loss with skin disease" "Nonsyndromic deafness, keratitis-ichthyosis-deafness syndrome, and palmoplantar keratoderma with deafness have all been associated with autosomal dominant variants in GJB2. Reported cases share hearing loss as a feature, therefore it is likely that these phenotypes exist along a spectrum of the same disease, differing in severity of skin phenotypes." "" + "dry age related macular degeneration" "Dry age related macular degeneration is characterized by the presence of age-related deposits called drusen and atrophy." "" + "acute flaccid myelitis" "An acute onset of focal limb weakness that is associated mainly with gray matter abnormalities or CSF pleocytosis, but which is without an apparent cause." "" + "Middle East respiratory syndrome" "A viral respiratory infection that is caused by the MERS coronavirus (MERS-CoV), which most often manifests with moderate to severe respiratory symptoms, including productive cough and shortness of breath, which can progress to pneumonia and acute respiratory distress syndrome." "" + "hallucinogen-persisting perception disorder" "A perceptual disorder caused by intoxication with hallucinogen drugs, especially LSD. It is characterized by the recurrence of perceptive disturbances that first develop during intoxication. The contents of the perception and visual imagery range extensively and symptoms may include visual disturbances, hallucinations, and psychoses." "" + "coinfection" "The simultaneous infection of a host by multiple pathogen species." "" + "intracranial arachoid cyst" "A cystic malformation that is characterized by extraparenchymal, nonneoplastic accumulations of fluid with density similar to that of cerebrospinal fluid." "" + "adult acute respiratory distress syndrome" "A very severe form of acute pulmonary failure secondary to capillary permeability impairment. The symptoms include dyspnea, hypotension and multivisceral failure. The disease is characterized by bilateral pulmonary infiltrates and severe hypoxemia due to increased alveolar-capillary permeability. The severity depends on the degree of alveolar epithelial injury, with a mortality rate of 30-50%." "" + "intrahepatic bile duct adenosquamous carcinoma" "An adenosquamous carcinoma that arises from the intrahepatic bile ducts." "" + "mitochondrial complex I deficiency" "A type of mitochondrial disease charcterized by macrocephaly (large head) with progressive leukodystrophy, encephalopathy, hypertrophic cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. The disease is caused by mutations in any of many genes and the inheritance pattern depends on the responsible gene." "" + "obsolete Fanconia anemia complementation group M" "OBSOLETE Any Fanconi anemia in which the cause of the disease is a mutation in the FANCM gene." "" "true" + "X-linked recessive mitochondrial myopathy" "A mitochondrial myopathy caused by defects in the MICOS subunit gene APOO (MIC26). Modelling in yeast and flies demonstrate an inability to insert MICOS complex into the inner mitohondrial membrane. Associated symptoms include, lactic acidosis, cognitive impairment and autistic features." "" + "obsolete asymptomatic COVID-19 infection" "A COVID-19 infection where individuals test positive for SARS-CoV-2 but have no symptoms across the entire course of the disease." "" "true" + "obsolete mild COVID-19 infection" "A COVID-19 infection that presents with various signs and symptoms (e.g., fever, cough, sore throat, malaise, headache, muscle pain) without shortness of breath, dyspnea, or abnormal imaging." "" "true" + "obsolete moderate COVID-19 infection" "A COVID-19 infection where individuals who have evidence of lower respiratory disease by clinical assessment or imaging and a saturation of oxygen (SpO2) >93% on room air at sea level." "" "true" + "obsolete severe COVID-19 infection" "A COVID-19 infection where individuals have respiratory frequency >30 breaths per minute, SpO2 ≤93% on room air at sea level, ratio of arterial partial pressure of oxygen to fraction of inspired oxygen (PaO2/FiO2) <300, or lung infiltrates >50%." "" "true" + "obsolete critical COVID-19 infection" "A COVID-19 infection that involves respiratory failure, septic shock, and/or multiple organ dysfunction." "" "true" + "Uner Tan Syndrome" "A tubulinopathy with material basis in TUBB2B that is characterized by variations in R390Q, quadrupedal locomotion, cerebellar hypoplasia and does not have basal ganglia malformations." "" + "obsolete presymptomatic COVID-19 infection" "A COVID-19 infection where individuals test positive for SARS-CoV-2 but have no symptoms when they first test positive, but develop symptoms later on." "" "true" + "Imerslund-Grasbeck syndrome type 1" "An autosomal recessive disorder characterized by onset of megaloblastic anemia associated with decreased serum vitamin B12 (cobalamin, Cbl) in infancy or early childhood. Low molecular weight (LMW) proteinuria is frequently present, but sometimes occurs later and is usually mild or subclinical. Patients often present with vague symptoms, including failure to thrive, loss of appetite, fatigue, lethargy, and/or recurrent infections. Some patients may present later in childhood with neurologic abnormalities related to B12 deficiency, such as sensorimotor neuropathy and/or cognitive disturbances." "" + "Imerslund-Grasbeck syndrome type 2" "An autosomal recessive disorder characterized by onset of megaloblastic anemia associated with decreased serum vitamin B12 (cobalamin, Cbl) in infancy or early childhood. Low molecular weight (LMW) proteinuria is frequently present, but usually occurs later and is usually mild or subclinical. Patients often present with vague symptoms, including failure to thrive, loss of appetite, fatigue, lethargy, and/or recurrent infections. Treatment with vitamin B12 results in sustained clinical improvement of the anemia. The proteinuria is nonprogressive, and affected individuals do not have deterioration of kidney function; correct diagnosis is important to prevent unnecessary treatment. The disorder results from a combination of vitamin B12 deficiency due to selective malabsorption of the vitamin, and impaired reabsorption of LMW proteins in the proximal renal tubule. These defects are caused by disruption of the AMN/CUBN complex that forms the 'cubam' receptor responsible for intestinal uptake of B12/GIF (CBLIF)." "" + "alcoholic ketoacidosis" "An acute disease characterized by severe ketoacidosis in the absence of diabetes mellitus and occuring in individuals with a history of prolonged excessive alcohol consumption. Disease manifestations include nausea, intractable vomiting, and abdominal pain. When treated, AKA resolves rapidly and completely with no apparent sequelae." "" + "hyperkalemic renal tubular acidosis" "Renal tubular acidosis (RTA) that is caused by a generalized transport abnormality of the distal tubule. The transport of electrolytes such as sodium, chloride, and potassium that normally occurs in the distal tubule is impaired. This form is distinguished from classical distal RTA and proximal RTA because it results in high levels of potassium in the blood instead of low levels." "" + "COVID-19–associated multisystem inflammatory syndrome in children" "A inflammatory syndrome in children infected by the SARS-CoV-2 with similarities to Kawasaki disease. Clinical manifestations range from fever and inflammation to myocardial injury, shock, and development of coronary artery aneurysms." "" + "permanent neonatal diabetes mellitus 1" "A rare autosomal recessive disorder characterized by severe hyperglycemia which requires insulin treatment soon after birth. The disorder results from a complete lack of glucokinase; total absence of basal insulin release was observed as well." "" + "AP-4 deficiency syndrome" "A genetic disorder associated with variation(s) in the AP4 genes: AP4B1, AP4E1, AP4M1, and AP4S1. The phenotypes observed in individuals with genetic variants in these genes are often complex and include intellectual disability, spastic paraplegia, microcephaly, brain abnormalities, and seizures." "" + "immune reconstitution inflammatory syndrome" "An inflammatory condition that arises after initiating antiretroviral therapy (ART) therapy in HIV-infected patients that results from restored immunity to specific infectious or non-infectious antigens." "" + "GTP cyclohydrolase I deficiency with hyperphenylalaninemia" "" + "combined ApoA-I and ApoC-III deficiency" "A hypoalphalipoproteinemia that is has its basis in the disruption of ApoA-I and ApoC-III." "" + "chronic liver failure" "Liver failure that develops slowly and gradually for some time, possibly for years, often as the result of cirrhosis, or malnutrition." "" + "pregnancy associated osteoporosis" "A severe early presentation of osteoporosis in which young women experience low trauma or spontaneous fractures, most commonly vertebral fractures, during late pregnancy or lactation." "" + "parainfluenza virus type 1 infectious disease" "A disease caused by infection with parainfluenza virus type 1." "" + "parainfluenza virus type 2 infectious disease" "A disease caused by infection with parainfluenza virus type 2." "" + "parainfluenza virus type 4 infectious disease" "A disease caused by infection with parainfluenza virus type 4." "" + "growth hormone insensitivity syndrome with immune dysregulation" "" + "growth hormone insensitivity with immune dysregulation 1, autosomal recessive" "" + "IFAP syndrome" "" + "Rajab interstitial lung disease with brain calcifications" "" + "Rajab interstitial lung disease with brain calcifications 1" "" + "arthrogryposis multiplex congenita 5" "" + "growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant" "" + "Rajab interstitial lung disease with brain calcifications 2" "" + "IFAP syndrome 2" "" + "A20 haploinsufficiency" "Any immune dysregulation disease in which the cause of the disease is a mutation in the TNFAIP3 gene." "" + "mitochondrial complex I deficiency, nuclear type 1" "" + "parasomnia, sleepwalking type" "A disorder in which a series of complex behaviors are initiated during slow-wave (non-REM) sleep and result in walking during sleep. It is a parasomnia, defined as a clinical disorder resulting in undesirable physical phenomena that occur predominantly during sleep. Parasomnias are not abnormalities of the processes responsible for sleep and wake states. Sleepwalking is more common in childhood (up to 26%), and usually resolves in adolescence; however, it can persist into adulthood (3%)." "" + "obsolete Heimler syndrome" "A peroxisoome biogenesis disorder characterised by sensorineural hearing loss, enamel hypoplasia of the secondary dentition, nail abnormalities and occasional or late-onset retinal pigmentation abnormalities, in which the cause of the disease is a mutation in peroxisomal biogenesis factor 1 (PEX1) or peroxisomal biogenesis factor 6 (PEX6) genes." "" "true" + "fatty acyl-CoA reductase 1 dysregulation" "A disorder of plasmalogens biosynthesis, that is an autosomal dominant neurological disorder that results in uncontrolled synthesis of ether lipids." "" + "psoriatic arthritis, susceptibility to, 1" "A susceptibility or predisposition to psoriatic arthritis, in which the cause of the disease is a mutation in the LTA gene. Psoriatic arthritis affects more than 10% of patients with psoriasis and, in most cases, there is an association between the severity of the arthritis and the skin involvement." "" + "psoriatic arthritis, susceptibility to" "An inherited susceptibility or predisposition to developing psoriatic arthritis." "" + "long COVID-19" "A chronic disease triggered by acute COVID-19 infection that is characterized by persistent symptoms following the acute phase of the SARS-CoV-2 infection, which may include fatigue, coughing, dyspnea, clouding of mentation, sleep disturbances, exercise intolerance and autonomic symptoms including tachycardia upon mild exercise or standing, night sweats, temperature dysregulation, gastroparesis, constipation or loose stools, and peripheral vasoconstriction." "" + "paroxysmal nocturnal hemoglobinuria" "An instance of paroxysmal nocturnal hemoglobinuria that is inherited or acquired." "" + "acquired paroxysmal nocturnal hemoglobinuria" "Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired clonal hematopoietic stem cell disorder characterized by corpuscular hemolytic anemia, bone marrow failure and frequent thrombotic events." "" + "rapidly progressive primary central nervous system vasculitis" "A subset of primary central nervous system vasculitis where disease is rapidly progressive after onset that is characterized by bilateral, multiple, large cerebral vessel lesions and multiple CNS infarctions." "" + "46,XX sex reversal 1" "" + "familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome" "" + "tumoral calcinosis, hyperphosphatemic, familial, 1" "" + "adenosine kinase deficiency" "A rare inborn error of metabolism characterized by persistent hypermethioninemia with increased levels of S-adenosylmethionine and S-adenosylhomocysteine which manifests with encephalopathy, severe global developmental delay, mild to severe liver dysfunction, hypotonia and facial dysmorphism (most significant is frontal bossing, macrocephaly, hypertelorism and depressed nasal bridge). Epileptic seizures, hypoglycemia and/or cardiac defects (pulmonary stenosis, atrial and/or ventricular septal defect, coarctation of the aorta) may be associated. Clinical picture may range from neurological symptoms only to multi-organ involvement." "" + "disorder of peroxisomal alpha oxidation" "Any peroxisomal single enzyme/protein defect that has its basis in the disruption of peroxisomal alpha oxidatiion." "" + "non-Zellweger spectrum disorder" "A peroxisome biogenesis disorder which is due to defect in PEX7 or PEX5. This includes rhizomelic chondrodysplasia punctata due to defect in PEX7 or PEX5, and adult Refsum Disease due to defects in PEX7." "" + "macroglobulinemia, Waldenstrom, 1" "" + "SC phocomelia syndrome" "" + "extrahepatic biliary atresia" "A disorder of infants in which there is progressive obliteration or discontinuity of the extrahepatic biliary system, resulting in obstruction of bile flow." "" + "respiratory syncytial virus bronchiolitis" "Bronciolitis caused by infection with respiratory syncytial virus." "" + "enhanced S-cone syndrome" "An autosomal recessive retinopathy in which patients have increased sensitivity to blue light; perception of blue light is mediated by what is normally the least populous cone photoreceptor subtype, the S (short wavelength, blue) cones. Characteristics include visual loss, with night blindness occurring from early in life, varying degrees of L (long, red)- and M (middle, green)-cone vision, and retinal degeneration." "" + "Goldmann-Favre syndrome" "A vitreoretinal dystrophy characterized by early onset of night blindness, reduced bilateral visual acuity, and typical fundus findings (progressive pigmentary degenerative changes, macular edema, retinoschisis)." "" + "colon serrated polyposis" "The presence of multiple serrated polyps in the colon. The polyps are predominantly sessile serrated adenomas/polyps. A minority of the polyps are microvesicular variants of hyperplastic polyps. According to some authors, the polyps are proximal to the sigmoid colon. According to others, the polyps are distributed throughout the entire colon." "" + "early T cell progenitor acute lymphoblastic leukemia" "T acute lymphoblastic leukemia in which the blasts have unique immunophenotypic and genetic characteristics suggesting only limited early T-cell differentiation." "" + "mitochondrial complex II deficiency, nuclear type 1" "Complex II deficiency is a mitochondrial disease. Mitochondria are specialized compartments in cells that create more than 90% of the energy needed by the body. In mitochondrial diseases, the mitochondria don't work correctly resulting in less energy in the cell, cell injury and cell death. The signs and symptoms of mitochondrial complex II deficiency can vary greatly from severe life-threatening symptoms in infancy to muscle disease beginning in adulthood. Complex II deficiency can be caused by mutations in the SDHA, SDHB, SDHD, or SDHAF1 genes. In many cases the underlying gene mutations cannot be identified. Complex II deficiency is inherited in an autosomal recessive fashion. Complex II deficiency gene mutation carriers may be at an increased risk for certain cancers." "" + "Olmsted syndrome 1" "Mutilating palmoplantar keratoderma (PPK) with periorificial keratotic plaques (also known as Olmsted syndrome) is a hereditary palmoplantar keratoderma characterized by the combination of bilateral mutilating transgredient palmoplantar keratoderma and periorificial keratotic plaques." "" + "short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1" "" + "disorder of bile acid aminotransferase" "Any peroxisomal single enzyme/protein defect that has its basis in the disruption of bile acid aminotransferase." "" + "bile acid CoA:amino acid N-acyltransferase deficiency" "Any disorder of bile acid aminotransferase in which the cause of the disease is a mutation in the BAAT gene." "" + "adult Refsum disease due to PEX7 defect" "An adult Refsum disease in which the cause of the disease is a mutation in the PEX7 gene." "" + "vestibular ataxia" "Any ataxia in which the causes of the disease is a perturbation of the vestibular system, leading to its dysfunction." "" + "isolated adrenal insufficiency" "An ABCD1 deficiency that presents with primary adrenocortical insufficiency between age two years and adulthood and most commonly by age 7.5 years, without evidence of neurologic abnormality; however, some degree of neurologic disability (most commonly adrenomyeloneuropathy (AMN)) usually develops by middle age." "" + "long QT syndrome 1" "" + "COVID-19–associated multisystem inflammatory syndrome in adults" "A inflammatory syndrome in adults infected by the SARS-CoV-2 with severe illness requiring hospitalization in a person aged ≥21 years; a positive test result for current or previous SARS-CoV-2 infection (nucleic acid, antigen, or antibody) during admission or in the previous 12 weeks; severe dysfunction of one or more extrapulmonary organ systems (e.g., hypotension or shock, cardiac dysfunction, arterial or venous thrombosis or thromboembolism, or acute liver injury); laboratory evidence of severe inflammation (e.g., elevated CRP, ferritin, D-dimer, or interleukin-6); and absence of severe respiratory illness (to exclude patients in which inflammation and organ dysfunction might be attributable simply to tissue hypoxia)." "" + "odontochondrodysplasia 1" "Odontochondrodysplasia, also called Goldblatt syndrome, is a very rare syndrome associating chondrodysplasia with dentinogenesis imperfecta." "" + "obsolete viral infectious disease or sequela" "" "true" + "Friedreich ataxia 1" "Any Friedreich ataxia in which the cause of the disease is a mutation in the FXN gene." "" + "Bartter disease type 1" "" + "neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities" "An autosomal recessive disorder characterized by global developmental delay apparent in infancy. Affected individuals have delayed walking with variable gait abnormalities, impaired intellectual development with poor or absent speech and language, and progressive microcephaly. More variable features include hypotonia, early-onset seizures, and a peripheral demyelinating or axonal peripheral sensorimotor neuropathy. The disease follows a neurodegenerative course in many patients; clinical features suggest involvement of both the central and peripheral nervous systems." "" + "episodic kinesigenic dyskinesia 1" "" + "HHV-7 infectious disease" "A disease caused by infection with herpesvirus-7." "" + "megacystis-microcolon-intestinal hypoperistalsis syndrome 1" "" + "classic or non-classic genetic disease presentation" "A classic (severe) or non-classic (mild or intermediate) form of a genetic disease." "" + "herpes simplex type 1 infectious disease" "A disease caused by infection with herpes simplex type 1." "" + "herpes simplex type 2 infectious disease" "A disease caused by infection with herpes simplex type 2." "" + "lip herpes simplex type 1 infectious disease" "Any herpes simplex type 1 infectious disease that involves the lip. This virus usually responsible for cold sores (herpes labialis)." "" + "lip herpes simplex type 2 infectious disease" "Any herpes simplex type 2 infectious disease that involves the lip." "" + "genital herpes simplex type 2 infectious disease" "Any herpes simplex type 2 infectious disease that involves the genitals." "" + "genital herpes simplex type 1 infectious disease" "Any herpes simplex type 1 infectious disease that involves the genitals." "" + "port-wine nevi-mega cisterna magna-hydrocephalus syndrome" "A rare developmental defect during embryogenesis syndrome characterized by a glabellar capillary malformation, congenital communicating hydrocephalus, and posterior fossa brain abnormalities, including Dandy-Walker malformation, cerebellar vermis agenesis, and mega cisterna magna. Seizures are occasionally associated. There have been no further descriptions in the literature since 1979." "" + "iatrogenic or non-iatrogenic" "A iatrogenic or non-iatrogenic form of a disease." "" + "acute hepatitis B virus infection" "A new infection by the hepatitis B virus, which can be transmitted by direct contact of infected blood with mucous membranes or open areas of the skin. Signs and symptoms may include loss of appetite, joint and muscle pain, low-grade fever and stomach pain. Two to six percent of adults progress to a chronic infection, while 90% of infants become chronically ill. A vaccine is available for those at risk." "" + "acute hepatitis C virus infection" "A new infection by the hepatitis C virus, which can be detected in blood. Signs and symptoms may include right upper quadrant abdominal pain, jaundice, dark urine, white stools and nausea. Approximately 15%-25% individuals clear the virus from their bodies without treatment. 75%-85% individuals develop chronic hepatitis C. There are possible treatments depending on individual characteristics." "" + "acute myeloid leukemia, inv(16)(p13.1;q22)" "Any acute myeloid leukemia that has the chromosomal anomaly inv(16)(p13.1;q22). (A chromosomal inversion that involves chromosome 16. It is associated with the development of acute myeloid leukemia CBFB-MYH11, acute myelomonocytic leukemia with abnormal eosinophils, and granulocytic sarcoma.)" "" + "acute myeloid leukemia, t(16;16)(p13.1;q22)" "Any acute myeloid leukemia that has the chromosomal anomaly t(16;16)(p13.1;q22). (A chromosomal translocation that involves chromosome 16. It is often associated with the development of acute myeloid leukemia CBFB-MYH11, acute myelomonocytic leukemia with abnormal eosinophils, and granulocytic sarcoma.)" "" + "acute myeloid leukemia, t(15;17)(q24;q21)" "Any acute myeloid leukemia that has the chromosomal anomaly t(15;17)(q24;q21). (A chromosomal translocation associated with creation of a fusion between the PML and RARA genes. It is seen in variants of acute promyelocytic leukemia.)" "" + "acute myeloid leukemia, t(9;11)(p21.3;q23.3)" "Any acute myeloid leukemia that has the chromosomal anomaly t(9;11)(p21.3;q23.3). (A cytogenetic abnormality that refers to the translocation of the short arm (p21.3) of chromosome 9 and the long arm (q23.3) of chromosome 11. It is associated with the development of acute myeloid leukemia with the MLLT3-MLL fusion gene transcript.)" "True" + "acute myeloid leukemia, t(10;11)(p12;q23)" "Any acute myeloid leukemia that has the chromosomal anomaly t(10;11)(p12;q23). (A cytogenetic abnormality that refers to the translocation of chromosome 10p12 with chromosome 11q23. It is associated with acute myeloid leukemia in childhood.)" "" + "acute myeloid leukemia, t(10;11)(p11.2;q23)" "Any acute myeloid leukemia that has the chromosomal anomaly t(10;11)(p11.2;q23). (A cytogenetic abnormality that refers to the translocation of the short arm (p11.2) of chromosome 10 and the long arm (q23) of chromosome 11. It is associated with KMT2A (MLL)/ABI1 fusions and acute myeloid leukemia.)" "" + "acute myeloid leukemia, t(1;11)(q21;q23)" "Any acute myeloid leukemia that has the chromosomal anomaly t(1;11)(q21;q23). (A cytogenetic abnormality that refers to the translocation of the long arm (q21) of chromosome 1 and the long arm (q23) of chromosome 11. It is associated with KMT2A (MLL)/MLLT11 (AF1Q) fusions, acute myeloid leukemia and some cases of acute lymphoblastic leukemia.)" "" + "acute myeloid leukemia, t(4;11)(q21;q23)" "Any acute myeloid leukemia that has the chromosomal anomaly t(4;11)(q21;q23). (A chromosomal abnormality consisting of the translocation of 4q21 with 11q23.)" "" + "acute myeloid leukemia, t(6;11)(q27;q23)" "Any acute myeloid leukemia that has the chromosomal anomaly t(6;11)(q27;q23). (A cytogenetic abnormality that refers to the translocation of the long arm (q27) of chromosome 6 and the long arm (q23) of chromosome 11. It is associated with the development of de novo acute myeloid leukemia.)" "" + "acute myeloid leukemia, t(6;9)(p23;q34.1)" "Any acute myeloid leukemia that has the chromosomal anomaly t(6;9)(p23;q34.1). (A cytogenetic abnormality that refers to the translocation of the short arm (p23) of chromosome 6 and the long arm (q34.1) of chromosome 9. It is associated with DEK/NUP214 fusions, acute myeloid leukemia and myelodysplastic syndromes.)" "" + "acute myeloid leukemia, t(11;19)(q23;p13)" "Any acute myeloid leukemia that has the chromosomal anomaly t(11;19)(q23;p13). (A cytogenetic abnormality that refers to the translocation of the long arm (q23) of chromosome 11 and the short arm (p13) of chromosome 19. It is associated with KMT2A (MLL) fusions, including those with MLLT1 (ENL) and ELL, and acute myeloid leukemia.)" "" + "acute myeloid leukemia, t(11;19)(q23;p13.1)" "Any acute myeloid leukemia that has the chromosomal anomaly t(11;19)(q23;p13.1). (A cytogenetic abnormality that refers to the translocation of the long arm (q23) of chromosome 11 and the short arm (p13.1) of chromosome 19. It is associated with the development of acute myeloid leukemia with variant MLL translocations and topoisomerase II inhibitor-related acute myeloid leukemia.)" "" + "acute myeloid leukemia, t(11;19)(q23.3;p13.3)" "Any acute myeloid leukemia that has the chromosomal anomaly t(11;19)(q23.3;p13.3). (A cytogenetic abnormality that refers to the translocation of the long arm (q23.3) of chromosome 11 and the short arm (p13.3) of chromosome 19. It is associated with KMT2A (MLL)/MLLT1 (ENL) fusions and acute myeloid leukemia.)" "" + "acute myeloid leukemia, t(v;11q23.3)" "Any acute myeloid leukemia that has the chromosomal anomaly t(v;11q23.3). (A chromosomal abnormality consisting of the translocation of genetic material from any one of several chromosomes to the 11q23.3 region, resulting in an MLL gene rearrangement.)" "" + "acute myeloid leukemia, Monosomy 7" "Any acute myeloid leukemia that has the chromosomal anomaly Monosomy 7. (A chromosomal abnormality consisting of the absence of one of the copies of chromosome 7 in somatic cells.)" "True" + "acute myeloid leukemia, Monosomy 5" "Any acute myeloid leukemia that has the chromosomal anomaly Monosomy 5. (A cytogenetic aneuploidy abnormality that refers to the presence of one chromosome 5 only. It is associated with the development of refractory anemia with excess blasts, refractory anemia with multilineage dysplasia, and refractory anemia with multilineage dysplasia and ringed sideroblasts.)" "" + "acute myeloid leukemia, Trisomy 8" "Any acute myeloid leukemia that has the chromosomal anomaly Trisomy 8. (A chromosomal abnormality consisting of the presence of a third copy of chromosome 8 in somatic cells.)" "" + "acute myeloid leukemia, der12p" "Any acute myeloid leukemia that has the chromosomal anomaly der12p. (A cytogenetic abnormality involving the rearrangement of two or more other chromosomes with the short arm of chromosome 12 (12p).)" "" + "acute myeloid leukemia, t(2;12)" "Any acute myeloid leukemia that has the chromosomal anomaly t(2;12). (A cytogenetic abnormality that involves a translocation between chromosomes 2 and 12.)" "" + "acute myeloid leukemia, t(11;17)" "Any acute myeloid leukemia that has the chromosomal anomaly t(11;17). (A cytogenetic abnormality that involves a translocation between chromosomes 11 and 17.)" "" + "acute myeloid leukemia, t(8;16)" "Any acute myeloid leukemia that has the chromosomal anomaly t(8;16). (A cytogenetic abnormality that involves a translocation between chromosomes 8 and 16.)" "" + "acute myeloid leukemia, t(1;22)" "Any acute myeloid leukemia that has the chromosomal anomaly t(1;22). (A cytogenetic abnormality that involves a translocation between chromosomes 1 and 22.)" "" + "acute myeloid leukemia, t(5;11)(q35;p15)" "Any acute myeloid leukemia that has the chromosomal anomaly t(5;11)(q35;p15). (A cytogenetic abnormality that refers to the translocation of chromosome 11p15 with chromosome 5q35. It results in the formation of NUP98/NSD1 fusion gene. It is associated with the development of acute myeloid leukemia with t(5;11)(q35;p15); NUP98-NSD1.)" "" + "acute myeloid leukemia, t(7;12)(q36;p13)" "Any acute myeloid leukemia that has the chromosomal anomaly t(7;12)(q36;p13). (A chromosomal translocation involving the ETV6 gene on chromosome 12p13 and HLXB9 gene on chromosome 7q36.)" "" + "acute myeloid leukemia, t(9;22)(q34.1;q11.2)" "Any acute myeloid leukemia that has the chromosomal anomaly t(9;22)(q34.1;q11.2). (A translocation between chromosomes 9 and 22 that is associated with the Philadelphia chromosome.)" "" + "acute myeloid leukemia, inv(3)(q21.3;q26.2)" "Any acute myeloid leukemia that has the chromosomal anomaly inv(3)(q21.3;q26.2). (A cytogenetic abnormality that refers to a paracentric inversion involving breakpoints on the long (q23.1 and q26.2) of chromosome 3. It is associated with acute myeloid leukemia.)" "" + "acute myeloid leukemia, t(3;3)(q21.3;q26.2)" "Any acute myeloid leukemia that has the chromosomal anomaly t(3;3)(q21.3;q26.2). (A cytogenetic abnormality that refers to the translocation where both breakpoints are on the long arm (q23.1 and q26.2) of chromosome 3. It is associated with acute myeloid leukemia.)" "" + "acute myeloid leukemia, t(3;12)(q23;p12.3)" "Any acute myeloid leukemia that has the chromosomal anomaly t(3;12)(q23;p12.3). (A cytogenetic abnormality that refers to the translocation of the long arm (q23) of chromosome 3 and the short arm (p12.3) of chromosome 12. It is associated with ETV6/MECOM (EVI1) fusions, myeloproliferative disorders, myelodysplastic syndromes and acute myelogenous leukemia.)" "" + "acute myeloid leukemia, del(5q31-q32)" "Any acute myeloid leukemia that has the chromosomal anomaly del(5q31-q32). (A cytogenetic abnormality that refers to deletion of chromosome bands 31-32 on the long arm of chromosome 5.)" "" + "acute myeloid leukemia, del(13q14-q21)" "Any acute myeloid leukemia that has the chromosomal anomaly del(13q14-q21). (A cytogenetic abnormality that refers to deletion of chromosome bands 14-21 on the long arm of chromosome 13.)" "" + "acute myeloid leukemia, loss of chromosome 17p" "Any acute myeloid leukemia that has the chromosomal anomaly loss of chromosome 17p. (A cytogenetic abnormality that refers to the loss of all or part of the short arm of chromosome 17 (17p).)" "" + "acute myeloid leukemia, MLL gene rearrangement" "Any acute myeloid leukemia that has the chromosomal anomaly MLL gene rearrangement. (A molecular abnormality indicating rearrangement of the MLL (KMT2A) gene.)" "" + "acute myeloid leukemia, Non-KMT2A MLLT10 rearrangement positive" "Any acute myeloid leukemia that has the chromosomal anomaly Non-KMT2A MLLT10 rearrangement positive. (An indication that a cytogenetic rearrangement involving MLLT10 but not involving KMT2A was detected in a sample.)" "" + "acute myeloid leukemia, inv(16)(p13.3;q24.3)" "Any acute myeloid leukemia that has the chromosomal anomaly inv(16)(p13.3;q24.3). (A pericentric chromosomal inversion that involves chromosome 16. It is associated with CBFA2T3/GLIS2 fusions and pediatric acute megakaryoblastic leukemia.)" "" + "acute myeloid leukemia, t(11;15)(p15;q35)" "Any acute myeloid leukemia that has the chromosomal anomaly t(11;15)(p15;q35). (A cytogenetic abnormality that refers to the translocation of chromosome 11p15 with chromosome 15q35. It results in the formation of NUP98/JARID1A fusion gene. It is associated with the development of acute myeloid leukemia with t(11;15)(p15;q35); NUP98-JARID1A.)" "" + "acute myeloid leukemia, t(16;21)(q24;q22)" "Any acute myeloid leukemia that has the chromosomal anomaly t(16;21)(q24;q22). (A cytogenetic abnormality that refers to the translocation of the long arm (q24) of chromosome 16 and the long arm (q22) of chromosome 22. It is associated with RUNX1/CBFA2T3 fusions, myelodysplastic syndromes and acute myeloid leukemia.)" "" + "acute myeloid leukemia, t(3;5)(q25;q34)" "Any acute myeloid leukemia that has the chromosomal anomaly t(3;5)(q25;q34). (A cytogenetic abnormality that refers to the translocation of the long arm (q25) of chromosome 3 and the long arm (q34) of chromosome 5. It is associated with the development of acute myeloid leukemia arising from myelodysplastic syndrome, acute myeloid leukemia with multilineage dysplasia, and acute myeloid leukemia with myelodysplasia-related changes.)" "" + "acute myeloid leukemia, t(16;21)(p11;q22)" "Any acute myeloid leukemia that has the chromosomal anomaly t(16;21)(p11;q22). (A chromosomal translocation involving the FUS gene on chromosome 16p11 and the ERG gene on chromosome 21q22.)" "" + "obsolete acute myeloid leukemia, NPM1 gene mutation" "" "true" + "acute myeloid leukemia, monoallelic CEBPA gene mutation" "Any acute myeloid leukemia that has the chromosomal anomaly monoallelic CEBPA gene mutation. (The presence of mutations in only one allele of the CEBPA gene.)" "" + "acute myeloid leukemia, biallelic CEBPA gene mutation" "Any acute myeloid leukemia that has the chromosomal anomaly biallelic CEBPA gene mutation. (The presence of mutations in both alleles of the CEBPA gene.)" "" + "acute myeloid leukemia, CEBPA gene mutation" "Any acute myeloid leukemia that has the chromosomal anomaly CEBPA gene mutation. (Mutation of the CEBPA gene encoding CCAAT/enhancer binding protein alpha. It is seen in acute myeloid leukemias usually associated with a normal karyotype.)" "" + "acute myeloid leukemia, FLT3 internal tandem duplication" "Any acute myeloid leukemia that has the chromosomal anomaly FLT3 internal tandem duplication. (A genetic abnormality that arises from duplications of the juxtamembrane portion of the gene and results in constitutive activation of the FLT3 receptor tyrosine kinase protein in early hematopoietic progenitor cells. It is associated with acute myelogenous leukemia where it appears to correlate with a poor prognosis.)" "" + "acute myeloid leukemia, FLT3 tyrosine kinase domain point mutation" "Any acute myeloid leukemia that has the chromosomal anomaly FLT3 tyrosine kinase domain point mutation. (Single nucleotide mutations in the tyrosine kinase domain encoded by the human FLT3 gene that are associated with acute myeloid leukemia and poor prognosis.)" "" + "acute myeloid leukemia, WT1 gene mutation" "Any acute myeloid leukemia that has the chromosomal anomaly WT1 gene mutation. (A change in the nucleotide sequence of the WT1 gene.)" "" + "acute myeloid leukemia, KIT exon 17 mutation" "Any acute myeloid leukemia that has the chromosomal anomaly KIT exon 17 mutation. (A molecular genetic abnormality indicating the presence of a mutation in exon 17 of the KIT gene located within 4q11-q12.)" "" + "acute myeloid leukemia, KIT exon 8 mutation" "Any acute myeloid leukemia that has the chromosomal anomaly KIT exon 8 mutation. (A molecular genetic abnormality indicating the presence of a mutation in exon 8 of the KIT gene located within 4q11-q12.)" "" + "acute myeloid leukemia, KIT gene mutation" "Any acute myeloid leukemia that has the chromosomal anomaly KIT gene mutation. (A molecular genetic abnormality that refers to mutation of the c-kit (CD117) proto-oncogene. It is associated with the development of gastrointestinal stromal tumor and gastrointestinal autonomic nerve tumor. It has also been described in acute myeloid leukemias, dysgerminomas, and seminomas.)" "" + "acute myeloid leukemia, GATA1 gene mutation" "Any acute myeloid leukemia that has the chromosomal anomaly GATA1 gene mutation. (A change in the nucleotide sequence of the GATA1 gene.)" "" + "acute myeloid leukemia, RUNX1 gene mutation" "Any acute myeloid leukemia that has the chromosomal anomaly RUNX1 gene mutation. (A change in the nucleotide sequence of the RUNX1 gene.)" "" + "acute myeloid leukemia, PTPN11 gene mutation" "Any acute myeloid leukemia that has the chromosomal anomaly PTPN11 gene mutation. (Mutation of the protein tyrosine phosphatase, non-receptor type 11 gene. It is seen in cases of juvenile myelomonocytic leukemia.)" "" + "acute myeloid leukemia, NRAS gene mutation" "Any acute myeloid leukemia that has the chromosomal anomaly NRAS gene mutation. (A change in the structure of the NRAS gene.)" "" + "acute myeloid leukemia, KRAS gene mutation" "Any acute myeloid leukemia that has the chromosomal anomaly KRAS gene mutation. (A change in the nucleotide sequence of the KRAS gene.)" "" + "non-iatrogenic" "A characteristic of a diseae in which it does not result from diagnostic and therapeutic procedures undertaken on a patient." "" + "progressive bulbar palsy of childhood" "A progressive bulbar palsy of childhood that occurs during childhood." "" + "fibrotic liver disease" "A liver disease characterized by the presence of excessive fibrous connective tissue in the liver." "" + "FNIP1-associated syndrome" "Any immunodeficiency in which the cause of the disease is a mutation in the FNIP1 gene. Disruption of Folliculin Interacting Protein 1 alters the essential metabolic regulators AMPK and mTOR, resulting in profound B-cell deficiency, hypertrophic cardiomyopathy, and pre-excitation syndrome." "" + "ACTB-associated syndromic thrombocytopenia" "A syndrome associated with developmental delay, mild intellectual disability, microcephaly, and thrombocytopenia with platelet anisotropy and enlarged platelets." "" + "Schwartz-Jampel syndrome type 1" "" + "cataract 2, multiple types" "Any cataract in which the cause of the disease is a mutation in the CRYGC gene." "" + "glycogen storage disease IXa2" "Any glycogen storage disease in which the cause of the disease is a mutation in the PHKA2 gene, with no PHK in liver, but normal activity in erythrocytes." "" + "neonatal encephalopathy with non-epileptic myoclonus" "A disorder characterized onset at birth of profound encephalopathy with hypotonia, Respiratory insufficiency central hypoventilation, a persistent suppression burst pattern of EEG background, and recurrent bouts of myoclonus that are not accompanied by epileptic discharges on electroencephalography. Evolution to pharmacoresistant seizures is common and continued profound global developmental delay." "" + "achalasia, familial esophageal" "An instance of achalsia that is caused by an inherited genomic modification in an individual." "" + "gastrointestinal defects and immunodeficiency syndrome" "A rare genetic disease characterized by multiple intestinal atresia in association with combined immunodeficiency and inflammatory bowel disease. Clinical features include widespread atresia extending from the stomach to the rectum, homogenous calcifications in the abdominal cavity, hepatic cholestasis, cirrhosis, and chronic liver failure, hypoplastic thymus, and increased susceptibility to mainly bacteria and viruses. The immunological phenotype consists of profound generalized T-cell lymphopenia and milder natural killer cell and B-cell lymphopenia, as well as low serum levels of IgG, IgA, and IgM, with elevated serum IgE. The disease is mostly fatal in infancy or childhood." "" + "short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans" "A rare genetic skeletal disorder characterized clinically by abnormal chondro-skeletal development, disproportionate short stature and skeletal deformation mainly affecting the knees, hips, ankles and elbows with onset generally in late childhood or adolescence." "" + "butterfly-shaped pigment dystrophy" "A patterned dystrophy of the retinal pigment epithelium characterized by abnormal accumulation of lipofuscin in a butterfly-shaped distribution at the retinal pigment epithelium level. Patients manifest with a slowly progressive loss of vision that often only becomes apparent in old age." "" + "preeclampsia/eclampsia 1" "" + "anosmia, isolated congenital, X-linked" "X-linked form of anosmia, isolated congenital." "" + "uterine ligament adenosarcoma" "An extremely rare adenosarcoma that arises from the uterine ligament." "" + "obsolete chromate resistance" "" "true" + "SSR3-CDG" "A congenital disorder of glycosylation with a SSR3 deficiency that affects the brain, lungs and gastrointestinal system, and presents with clinical phenotypes such as seizures, intellectual disability, developmental delay, microcephaly and abnormal brain structure." "" + "small intestinal bacterial overgrowth" "The presence of excessive bacteria in the small intestine that can result from result from failure of the gastric acid barrier, failure of small intestinal motility, anatomic alterations, or impairment of systemic and local immunity." "" + "calcium-alkali syndrome" "The ingestion of excessive calcium supplementation or calcium containing antacids, and alkali resulting in a triad of hypercalcemia, metabolic alkalosis, and renal insufficiency." "" + "skeletal fluorosis" "A condition that results from excessive fluoride ingestion leading to fluoride accumulation in the bone progressively over many years. The early symptoms of skeletal fluorosis, include stiffness and pain in the joints. In severe cases, the bone structure may change and ligaments may calcify, with resulting impairment of muscles and pain." "" + "phrynoderma" "Phrynoderma is a form of follicular hyperkeratosis seen in young children and adolescents due to nutritional deficiencies. It is clinically characterized by discrete, follicular, skin-colored papules with keratotic plugs distributed over elbows, knees, extensor extremities, and buttocks." "" + "refeeding syndrome" "Potentially fatal shifts in fluids and electrolytes that may occur in malnourished patients receiving artificial refeeding (whether enterally or parenterally)." "" + "botryomycosis" "A rare chronic suppurative bacterial infection involving mostly subcutaneous tissues and less frequently other organs. Botryomycosis is mostly caused by Staphylococcus aureus, Escherichia coli and Pseudomonas aeruginosa but the exact pathogenesis remains uncertain. Treatment often requires a combination of both surgical debridement and long-term antimicrobial therapy." "" + "episodic angioedema with eosinophilia" "A disorder characterized by episodes of swelling under the skin (angioedema) and an elevated number of the white blood cells known as eosinophils (eosinophilia). During these episodes, symptoms of hives (urticaria), fever, swelling, weight gain and eosinophilia may occur. Symptoms usually appear every 3-4 weeks and resolve on their own within several days. Other cells may be elevated during the episodes, such as neutrophils and lymphocytes. Although the syndrome is often considered a subtype of the idiopathic hypereosinophilic syndromes, it does not typically have organ involvement or lead to other health concerns." "" + "acute fibrinous and organizing pneumonia" "A rare pulmonary disease with histological pattern of interstitial pneumonitis characterized by the deposit of intra-alveolar fibrin and diffuse organizing pneumonia within the alveolar ducts and bronchioles, with large etiological spectra." "" + "SEC61B-related polycystic liver disease" "Any autosomal dominant polycystic liver disease in which the cause of the disease is a mutation in the SEC61B gene." "" + "venom allergy" "An allergic disease involving venom." "" + "cytokine release syndrome" "A syndrome that occurs after therapeutic infusion of antibodies into the blood and is characterized by nausea, headache, tachycardia, hypotension, rash, and shortness of breath. It is caused by the release of cytokines from the cells that are targeted by the antibodies. Most patients experience a mild to moderate reaction; however, the reaction may be severe and life-threatening." "" + "severe hypophosphatasia" "Severe hypophosphatasia is a rare, severe form of hypophosphatasia characterized by infantile rickets without elevated serum alkaline phosphatase (ALP) activity and a wide range of clinical manifestations due to hypomineralization. Individuals often present with these features in infancy or in the perinatal period." "" + "moderate hypophosphatasia" "Moderate hypophosphatasia is a rare, moderate form of hypophosphatasia characterized by defective mineralization of bone and/or teeth, premature loss of teeth with intact roots, and reduced serum alkaline phosphatase (ALP) activity. Individuals can present with this form of hypophosphatasia in infancy, childhood, or adulthood." "" + "mild hypophosphatasia" "Mild hypophosphatasia is the most common form of hypophosphatasia characterized by low alkaline phosphatase, unspecific clinical signs, and typically presents in individuals in adulthood." "" + "alveolar capillary dysplasia without misalignment of pulmonary veins" "A rare form of interstitial and vascular lung disease that presents as severe pulmonary hypertension and refractory hypoxemia early in life that is characterized by a lack of misalignment of the pulmonary veins." "" + "acinar dysplasia" "A lethal, developmental lung malformation resulting in neonatal respiratory insufficiency. It is characterized by pulmonary hypoplasia and arrest in the pseudoglandular stage of development, resulting in the absence of functional gas exchange. It can be caused by mutations in FGF10, FGFR2 or TBX4." "" + "acinar dysplasia caused by mutation in FGF10" "Any acinar dysplasia in which the cause of the disease is a mutation in the FGF10 gene." "" + "acinar dysplasia caused by mutation in FGFR2" "Any acinar dysplasia in which the cause of the disease is a mutation in the FGFR2 gene." "" + "acinar dysplasia caused by mutation in TBX4" "Any acinar dysplasia in which the cause of the disease is a mutation in the TBX4 gene." "" + "familial idiopathic inflammatory myopathy" "An instance of myositis that is caused by an inherited genomic modification in an individual, and has an unknown cause." "" + "hydrosalpinx" "Fluid accumulation and dilatation of the fallopian tube due to tubal blockage." "" + "vanishing lung syndrome" "A rare form of irreversible damage to the pulmonary parenchyma often due to chronic obstructive pulmonary disease (COPD). It is associated with a spectrum of clinical manifestations, including worsening dyspnea, cough, declining pulmonary function, and occasionally spontaneous pneumothorax due to ruptured bullae." "" + "congenital right-sided heart lesions" "Serious heritable structural anomalies of the right side of the heart, including pulmonary atresia, tricuspid valve disease and Ebstein's anomaly, and right ventricular outflow tract obstruction and/or pulmonary stenosis, that are present from birth." "" + "restrictive pulmonary disease" "Decreased lung volume and inadequate ventilation due to parenchymal lung disorders (e.g., interstitial pulmonary fibrosis) or extrapulmonary disorders (e.g., scoliosis). Patients present with shortness of breath and cough." "" + "B-cell acute lymphoblastic leukemia with t(1;19)(q23;p13.3); E2A-PBX1 (TCF3-PBX1)" "A B-cell acute leukemia characterized by the presence of lymphoblasts that carry a translocation between the E2A gene on chromosome 19 and the PBX1 gene on chromosome 1. It occurs in children and less often in adults." "" + "ALG9-associated autosomal dominant polycystic kidney disease" "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the ALG9 gene." "" + "shrinking lung syndrome" "A rare pulmonary complication of an underlying autoimmune disorder that is reported in association with systemic lupus erythematosus (SLE). Reduced lung volumes result in restrictive ventilatory defect and a preserved carbon monoxide transfer coefficient." "" + "idiopathic vs non-idiopathic" "A disease characteristic in which the cause of the disease is known or unknown." "" + "non-idiopathic" "A disease characteristic in which the disease has a known cause." "" + "leukemia, acute, X-linked" "X-linked form of acute leukemia" "" + "mosaic vs complete" "A disease characteristic in which the cause of the disease is present in some of the cells of the organism, or in all the cells of the organism." "" + "complete" "A disease characteristic in which the cause of the disease is present in all the cells of the organism." "" + "myopathy caused by variation in POMGNT2" "Any myopathy in which the cause of the disease is a variation in the POMGNT2 gene." "" + "Usher syndrome type 1B" "Usher syndrome in which the cause of the disease is a mutation in the MYO7A gene" "" + "paroxysmal nonkinesigenic dyskinesia 1" "Paroxysmal nonkinesigenic dyskinesia in which the cause of the disease is a mutation in the PNKD gene." "" + "epilepsy, familial temporal lobe, 1" "An autosomal dominant condition caused by mutation(s) in the LGI1 gene, encoding leucine-rich glioma-inactivated protein 1. It is characterized by partial seizures originating in the temporal lobe and often accompanied by auditory sensory manifestations." "" + "chromosome 19q13.11 deletion syndrome, distal" "Chromosome 19q13.11 deletion syndrome in which the distal region was deleted." "" + "delayed sleep phase syndrome, susceptibility to" "An inherited susceptibility or predisposition to developing delayed sleep phase syndrome." "" + "infectious discitis" "An infection of the intervertebral disc space." "" + "staphylococcus discitis" "Discitis caused by infection with Staphylococcus." "" + "escherichia coli discitis" "Discitis caused by infection with Escherichia coli." "" + "streptococcus pneumoniae discitis" "Discitis caused by infection with Streptococcus pneumoniae." "" + "salmonella discitis" "Discitis caused by infection with Salmonella." "" + "fungal discitis" "Discitis caused by infection with fungi." "" + "WHIM syndrome 1" "A congenital autosomal dominant immune deficiency characterized by abnormal retention of mature neutrophils in the bone marrow (myelokathexis) and occasional hypogammaglobulinemia, associated with an increased risk for bacterial infections and a susceptibility to human papillomavirus (HPV) induced lesions (cutaneous warts, genital dysplasia and invasive mucosal carcinoma)." "" + "Martsolf syndrome 1" "This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism." "" + "visceral neuropathy, familial, 1, autosomal recessive" "A form of chronic intestinal pseudoobstruction caused by a developmental failure of the enteric neurons to differentiate or migrate properly and manifests as a bowel obstruction." "" + "neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1" "" + "portal hypertension, noncirrhotic, 1" "" + "familial antiphospholipid syndrome" "Autosomal dominant form of antiphospholipid syndrome." "" + "46,XY sex reversal 11" "Any 46,XY complete gonadal dysgenesis in which the cause of the disease is a mutation in the DHX37 gene." "" + "testicular regression syndrome" "A developmental anomaly characterized by the absence of one or both testicles with partial or complete absence of testicular tissue. TRS may vary from normal male with unilateral no-palpable testis through phenotypic male with micropenis, to phenotypic female. The phenotype depends on the extent and timing of the intrauterine accident in relation to sexual development." "" + "benign paroxysmal positional vertigo" "Idiopathic recurrent vertigo associated with positional nystagmus. It is associated with a vestibular loss without other neurological or auditory signs. Unlike in labyrinthitis and vestibular neuronitis inflammation in the ear is not observed." "" + "vertigo, benign recurrent, 1" "" diff --git a/src/ontology/reports/mondo_obsoletioncandidates.tsv b/src/ontology/reports/mondo_obsoletioncandidates.tsv index 873f658d4c..27e27c0118 100644 --- a/src/ontology/reports/mondo_obsoletioncandidates.tsv +++ b/src/ontology/reports/mondo_obsoletioncandidates.tsv @@ -1,326 +1,314 @@ mondo_id label comment issue obsoletion_date -MONDO:0000651 "thoracic disease" "Reason: grouping class. Term to consider: none" CYP11A1 gene. Milder cases may present delayed onset of adrenal gland dysfunction and genitalia phenotype may range from normal male to female in individuals with 46,XY karyotype. Imaging studies reveal hypoplastic/absent adrenal glands and biochemical findings include low serum cortisol, mineralocorticoids, androgens, and sodium, with elevated potassium levels. MONDO:0013800 definition Ehlers-Danlos syndrome, kyphoscoliotic and deafness type is a form of Ehlers-Danlos syndrome, characterized by severe generalized hypotonia at birth with severe early-onset kyphoscolosis along with joint hypermobility (without contractures) leading to recurrent dislocations, and sensorineural hearing impairment. A form of Ehlers-Danlos syndrome, characterized by severe generalized hypotonia at birth with severe early-onset kyphoscolosis along with joint hypermobility (without contractures) leading to recurrent dislocations, and sensorineural hearing impairment. MONDO:0013865 definition Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency is a rare mitochondrial oxidative phosphorylation disorder with complex I and IV deficiency characterized by lactic acidosis, hypotonia, hypertrophic cardiomyopathy and global developmental delay. Other clinical features include feeding difficulties, failure to thrive, seizures, optic atrophy and ataxia. A rare mitochondrial oxidative phosphorylation disorder with complex I and IV deficiency characterized by lactic acidosis, hypotonia, hypertrophic cardiomyopathy and global developmental delay. Other clinical features include feeding difficulties, failure to thrive, seizures, optic atrophy and ataxia. +MONDO:0013873 definition IMAGe syndrome is characterized by the association of Intrauterine growth retardation, Metaphyseal dysplasia (and short limbs), Adrenal hypoplasia congenita, and Genital anomalies. It has been described in less than 20 cases. The patients also present with dysmorphic features (frontal bossing, broad nasal bridge, low-set ears). In boys, genital anomalies include bilateral cryptorchidism, hypospadias, micropenis, and hypogonadotropic hypogonadism. This syndrome is likely to be transmitted as an autosomal recessive trait. IMAGe syndrome is characterized by the association of intrauterine growth retardation, metaphyseal dysplasia (and short limbs), adrenal hypoplasia congenita, and genital anomalies. It has been described in less than 20 cases. The patients also present with dysmorphic features (frontal bossing, broad nasal bridge, low-set ears). In boys, genital anomalies include bilateral cryptorchidism, hypospadias, micropenis, and hypogonadotropic hypogonadism. This syndrome is likely to be transmitted as an autosomal recessive trait. +MONDO:0013956 definition Mendelian susceptibility to mycobacterial diseases (MSMD) due to partial STAT1 (signal transducer and activator of transcription 1) deficiency is a genetic variant of MSMD characterized by a partial defect in the interferon (IFN)-gamma pathway, leading to mild mycobacterial infections. A genetic variant of Mendelian susceptibility to mycobacterial diseases characterized by a partial defect in the interferon (IFN)-gamma pathway, leading to mild mycobacterial infections. +MONDO:0013957 definition Mendelian susceptibility to mycobacterial diseases (MSMD) due to partial IRF8 (interferon regulatory factor 8) deficiency is a rare genetic variant of MSMD characterized by a selective susceptibility to relatively mild infections with bacillus Calmette-GuC)rin (BCG).. A rare genetic variant of Mendelian susceptibility to mycobacterial diseases characterized by a selective susceptibility to relatively mild infections with bacillus Calmette-Guerin (BCG). +MONDO:0014058 definition Facial dysmorphism-immunodeficiency-livedo-short stature syndrome is a rare genetic disease characterized by facial dysmorphism with malar hypoplasia and high forehead, immunodeficiency resulting in recurrent infections, impaired growth (with normal growth hormone production and response) resulting in short stature, and livedo affecting face and extremities. Immunological analyses show low memory B-cell and naïve T cell counts, decreased T cell proliferation, and reduced IgM, IgG2 and IgG4 titers. Patients do not exhibit increased susceptibility to cancer. A rare genetic disease characterized by facial dysmorphism with malar hypoplasia and high forehead, immunodeficiency resulting in recurrent infections, impaired growth (with normal growth hormone production and response) resulting in short stature, and livedo affecting face and extremities. Immunological analyses show low memory B-cell and naïve T cell counts, decreased T cell proliferation, and reduced IgM, IgG2 and IgG4 titers. Patients do not exhibit increased susceptibility to cancer. MONDO:0014139 definition Any Ehlers-Danlos syndrome progeroid type in which the cause of the disease is a mutation in the B3GALT6 gene. Any Ehlers-Danlos syndrome, spondylodysplastic type in which the cause of the disease is a mutation in the B3GALT6 gene. +MONDO:0014429 definition Autosomal dominant (AD) mendelian susceptibility to mycobacterial diseases (MSMD) due to partial interferon gamma receptor 1 (IFN-gammaR1) deficiency is a genetic variant of MSMD characterized by a partial deficiency leading to impaired IFN-gamma immunity and, consequently, recurrent, moderately severe infections with bacillus Calmette-GuC)rin (BCG) and other environmental mycobacteria (EM). A genetic variant of Mendelian susceptibility to mycobacterial disease characterized by a partial deficiency leading to impaired IFN-gamma immunity and, consequently, recurrent, moderately severe infections with bacillus Calmette-Guerin (BCG) and other environmental mycobacteria (EM). MONDO:0014851 definition Any autosomal recessive infantile hypercalcemia in which the cause of the disease is a mutation in the SLC34A1 gene. Any hypercalcemia, infantile in which the cause of the disease is a mutation in the SLC34A1 gene. MONDO:0014914 definition Any BAFopathy in which the cause of the disease is a mutation in the BCL11A gene. MONDO:0020583 definition An irregularity in the structure of chromosome 17. Chromosomal disorder in which chromosome 17 is affected. MONDO:0015629 definition Type 2B von Willebrand disease (type 2B VWD) is a subtype of type 2 VWD characterized by a bleeding disorder associated with an increase in the affinity of the Willebrand factor (von Willebrand factor; VWF) for platelets. This anomaly results in spontaneous binding of high molecular weight VWF multimers to platelets leading to rapid clearance of both the platelets (increasing the risk of thrombocytopenia) and the high molecular weight VWF multimers from the plasma. A subtype of type 2 VWD characterized by a bleeding disorder associated with an increase in the affinity of the Willebrand factor (von Willebrand factor; VWF) for platelets. This anomaly results in spontaneous binding of high molecular weight VWF multimers to platelets leading to rapid clearance of both the platelets (increasing the risk of thrombocytopenia) and the high molecular weight VWF multimers from the plasma. MONDO:0015630 definition Type 2M von Willebrand disease (type 2M VWD) is a subtype of type 2 VWD characterized by a bleeding disorder associated with a decrease in the affinity of the Willebrand factor (von Willebrand factor; VWF) for platelets and the subendothelium in the absence of any deficiency of high molecular weight VWF multimers. A subtype of type 2 VWD characterized by a bleeding disorder associated with a decrease in the affinity of the Willebrand factor (von Willebrand factor; VWF) for platelets and the subendothelium in the absence of any deficiency of high molecular weight VWF multimers. MONDO:0016002 definition Ehlers-Danlos syndrome, kyphoscoliotic type (EDKT) is a form of Ehlers-Danlos syndrome characterized by severe hypotonia and kyphoscoliosis at birth, generalized joint hyperextensibility and ocular globe fragility. A form of Ehlers-Danlos syndrome characterized by severe hypotonia and kyphoscoliosis at birth, generalized joint hyperextensibility and ocular globe fragility. +MONDO:0016299 definition Holoprosencephaly-caudal dysgenesis syndrome is a central nervous system malformation syndrome characterized by holoprosencephaly with microcephaly, abnormal eye morphology (hypotelorism, cyclopia, exophthalmos), nasal anomalies (single nostril or absent nose), and cleft lip/palate, combined with signs of caudal regression (sacral agenesis, sirenomelia with absent external genitalia). A central nervous system malformation syndrome characterized by holoprosencephaly with microcephaly, abnormal eye morphology (hypotelorism, cyclopia, exophthalmos), nasal anomalies (single nostril or absent nose), and cleft lip/palate, combined with signs of caudal regression (sacral agenesis, sirenomelia with absent external genitalia). +MONDO:0016522 definition Kousseff syndrome is characterized by the association of conotruncal heart defects, myelomeningocele and craniofacial dysmorphism similar to that seen in monosomy 22q11. A syndrome characterized by the association of conotruncal heart defects, myelomeningocele and craniofacial dysmorphism similar to that seen in monosomy 22q11. MONDO:0016936 definition A chromosomal disorder characterized by the presence of extra copy/copies of part of chromosome 18. MONDO:0017575 definition Mitochondrial NeuroGastroIntestinal Encephalomyopathy (MNGIE) syndrome is characterized by the association of gastrointestinal dysmotility, peripheral neuropathy, chronic progressive external ophthalmoplegia and leukoencephalopathy. A syndrome characterized by the association of gastrointestinal dysmotility, peripheral neuropathy, chronic progressive external ophthalmoplegia and leukoencephalopathy. MONDO:0017802 definition Ovarian fibrothecoma is a rare, benign, sex cord-stromal neoplasm, with a typically unilateral location in the ovary, characterized by mixed features of both fibroma and thecoma. Patients may be asymptomatic or may present with pelvic/abdominal pain and/or distension and, occasionally, with post-menopausal bleeding. Large tumors (>10cm) are often associated with pleural effusion and ascites (the Meigs syndrome triad). A rare, benign, sex cord-stromal neoplasm, with a typically unilateral location in the ovary, characterized by mixed features of both fibroma and thecoma. Patients may be asymptomatic or may present with pelvic/abdominal pain and/or distension and, occasionally, with post-menopausal bleeding. Large tumors (>10cm) are often associated with pleural effusion and ascites (the Meigs syndrome triad). +MONDO:0017901 definition Autosomal recessive (AR) mendelian susceptibility to mycobacterial diseases (MSMD) due to partial IFN-gammaR1 deficiency is a genetic variant of MSMD characterized by a partial deficiency in IFN-gammaR1, leading to a residual response to IFN-gamma and, consequently, to recurrent, moderately severe infections with bacillus Calmette-GuC)rin (BCG) and other environmental mycobacteria (EM). A genetic variant of Mendelian susceptibility to mycobacterial diseases characterized by a partial deficiency in IFN-gammaR1, leading to a residual response to IFN-gamma and, consequently, to recurrent, moderately severe infections with bacillus Calmette-Guerin (BCG) and other environmental mycobacteria (EM). +MONDO:0017902 definition Autosomal recessive mendelian susceptibility to mycobacterial diseases (MSMD) due to partial IFNgammaR2 deficiency is a genetic variant of MSMD characterized by a partial deficiency in IFN-gammaR2, leading to a residual response to IFN-gamma and consequently to recurrent, moderately severe infections with bacillus Calmette-GuC)rin (BCG) and other environmental mycobacteria (EM). A genetic variant of Mendelian susceptibility to mycobacterial diseases characterized by a partial deficiency in IFN-gammaR2, leading to a residual response to IFN-gamma and consequently to recurrent, moderately severe infections with bacillus Calmette-Guerin (BCG) and other environmental mycobacteria (EM). +MONDO:0017903 definition Autosomal dominant (AD) mendelian susceptibility to mycobacterial diseases (MSMD) due to partial interferon gamma receptor 2 (IFN-gammaR2) deficiency is a genetic variant of MSMD characterized by a partial deficiency in IFN-gammaR2, leading to impaired response to IFN-gamma and, consequently, to recurrent, moderately severe infections with bacillus Calmette-GuC)rin (BCG) and other environmental mycobacteria (EM). A genetic variant of mendelian susceptibility to mycobacterial diseases characterized by a partial deficiency in IFN-gammaR2, leading to impaired response to IFN-gamma and, consequently, to recurrent, moderately severe infections with bacillus Calmette-Guerin (BCG) and other environmental mycobacteria (EM). MONDO:0018298 definition Multicentric osteolysis-nodulosis-arthropathy (MONA) spectrum is a rare genetic chronic skeletal disorder characterized by peripheral osteolysis (especially carpal and tarsal bones), interphalangeal joint erosions, subcutaneous fibrocollagenous nodules, facial dysmorphism, and a wide range of associated manifestations. A rare genetic chronic skeletal disorder characterized by peripheral osteolysis (especially carpal and tarsal bones), interphalangeal joint erosions, subcutaneous fibrocollagenous nodules, facial dysmorphism, and a wide range of associated manifestations. MONDO:0018301 definition Interstitial cystitis, also known as bladder pain syndrome (IC/BPS), is a rare chronic debilitating urogenital disease characterized by urinary frequency, urgency, and pelvic pain. A rare chronic debilitating urogenital disease characterized by urinary frequency, urgency, and pelvic pain. MONDO:0018430 definition Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome is a rare, hereditary, cerebral malformation with epilepsy syndrome characterized by severe global developmental delay with no ability to walk and no verbal language, intractable epilepsy, partial agenesis of the corpus callosum and cerebellar vermis hypoplasia with posterior fossa cysts. A rare, hereditary, cerebral malformation with epilepsy syndrome characterized by severe global developmental delay with no ability to walk and no verbal language, intractable epilepsy, partial agenesis of the corpus callosum and cerebellar vermis hypoplasia with posterior fossa cysts. MONDO:0018683 definition A non-hereditary form of ichthyosis characterized by plate-like scales on the legs, arms and occasionally the torso. Noninherited ichthyosis associated with malignancy; autoimmune, inflammatory, nutritional, metabolic, infectious, and neurologic diseases; or medications. MONDO:0018861 definition Zellweger-like syndrome without peroxisomal anomalies is an extremely rare mitochondrial disorder characterized by facial dysmorphism similar to that seen in Zellweger syndrome, such as frontal bossing, high forehead, upslanting palpebral fissures, hypoplastic supraorbital ridges, and epicanthal folds, and in addition, pale skin, profound hypotonia, developmental delay, and minor metabolic anomalies. No peroxysomal defects, however, have been reported. Transmission is thought to be autosomal recessive. An extremely rare mitochondrial disorder characterized by facial dysmorphism similar to that seen in Zellweger syndrome, such as frontal bossing, high forehead, upslanting palpebral fissures, hypoplastic supraorbital ridges, and epicanthal folds, and in addition, pale skin, profound hypotonia, developmental delay, and minor metabolic anomalies. No peroxysomal defects, however, have been reported. Transmission is thought to be autosomal recessive. +MONDO:0018976 definition Schisis association describes the combination of two or more of the following anomalies: neural tube defects (e.g. anencephaly, encephalocele, spina bifida cystica), cleft lip/palate, omphalocele and congenital diaphragmatic hernia. These anomalies are associated at a higher frequency than would be expected with random combination rates. The combination of two or more of the following anomalies: neural tube defects (e.g. anencephaly, encephalocele, spina bifida cystica), cleft lip/palate, omphalocele and congenital diaphragmatic hernia. These anomalies are associated at a higher frequency than would be expected with random combination rates. MONDO:0019484 definition Hypothalamic hamartomas with gelastic seizures is a rare cerebral malformation with epilepsy syndrome characterized by early-onset gelastic (i.e. ictal laughter) or dacrystic (i.e., ictal crying) seizures due to non-neoplastic developmental malformation - hypothalamic hamartomas. In many patients, seizures progress to other seizure types including focal and generalized seizures, with concomitant cognitive decline and behavioral disorders. Some patients also present a precocious puberty. A rare cerebral malformation with epilepsy syndrome characterized by early-onset gelastic (i.e. ictal laughter) or dacrystic (i.e., ictal crying) seizures due to non-neoplastic developmental malformation - hypothalamic hamartomas. In many patients, seizures progress to other seizure types including focal and generalized seizures, with concomitant cognitive decline and behavioral disorders. Some patients also present a precocious puberty. +MONDO:0019604 definition Fanconi syndrome (FS) is a generalized disorder of renal proximal tubule function. In adults over 50 years of age, FS is frequently related to the urinary secretion of a monoclonal immunoglobulin (Ig) light chain (LC), almost always of the kappa isotype. A rare monoclonalgammopathy characterized by renal proximal tubule dysfunction secondary to monoclonal kappa light chain deposits in proximal tubular cells. Clinical presentation is with variable chronic kidney disease, low molecular weight proteinuria, aminoaciduria, hyperphosphaturia, uricosuria, bicarbonaturia, and non-diabetic glycosuria. Renal phosphate and urate wasting may cause hypophosphatemia and hypouricaemia. MONDO:0020603 definition X-linked dominant chondrodysplasia punctata (CDPX2) is a rare genodermatosis with great phenotypic variation and characterized most commonly by ichthyosis, chondrodysplasia punctata (CDP), asymmetric shortening of the limbs, cataracts and short stature. A rare genodermatosis with great phenotypic variation and characterized most commonly by ichthyosis, chondrodysplasia punctata (CDP), asymmetric shortening of the limbs, cataracts and short stature. +MONDO:0021804 definition Pulmonary or extrapulmonary infection caused by MYCOBACTERIUM TUBERCULOSIS or nontuberculous mycobacteria in a patient with silicosis. Tuberculosis caused by the infection of Mycobacterium tuberculosis in patients with silicosis (that is caused by inhalation of silica dust particles). The risk of a patient with silicosis developing pulmonary tuberculosis and extra-pulmonary tuberculosis is higher than in healthy population. +MONDO:0023153 definition A type of abdominal tuberculosis that is characterized by accumulation of fluid in the abdomen, a swollen abdomen, and slightly raised tubercles of 1–2 mm all over the peritoneum. MONDO:0032702 definition Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the SMARCC2 gene. MONDO:0032770 definition Any BAFopathy in which the cause of the disease is a mutation in the ACTL6B gene. MONDO:0033492 definition Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the ARID2 gene. +MONDO:0040753 definition Mycobacterium tuberculosis infection that does not induce infectious expression of the disease in the affected person, although it can cause continuous immune response generated towards TB antigens; person having LTBI are asymptomatic and acting as a reservoir of active tuberculosis tuberculosis cases and Mycobacterium tuberculosis and run a 5-10% risk of reactivating tuberculosis throughout their lives. MONDO:0054831 definition Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the DPF2 gene. MONDO:0060763 definition Any BAFopathy in which the cause of the disease is a mutation in the BCL11B gene. MONDO:0100088 definition A form of familial Alzheimer disease, that begins after age 65. @@ -122,6 +421,7 @@ MONDO:0000651 obsoletion_candidate True MONDO:0021059 obsoletion_candidate True MONDO:0018271 obsoletion_candidate True MONDO:0004058 obsoletion_candidate True +MONDO:0006588 obsoletion_candidate True MONDO:0016999 obsoletion_candidate True MONDO:0007089 obsoletion_candidate True MONDO:0007139 obsoletion_candidate True @@ -146,6 +446,7 @@ MONDO:0008326 obsoletion_candidate True MONDO:0008351 obsoletion_candidate True MONDO:0008405 obsoletion_candidate True MONDO:0008432 obsoletion_candidate True +MONDO:0019683 obsoletion_candidate True MONDO:0008548 obsoletion_candidate True MONDO:0008616 obsoletion_candidate True MONDO:0008625 obsoletion_candidate True @@ -153,34 +454,43 @@ MONDO:0008677 obsoletion_candidate True MONDO:0009125 obsoletion_candidate True MONDO:0009250 obsoletion_candidate True MONDO:0009278 obsoletion_candidate True +MONDO:0009410 obsoletion_candidate True MONDO:0009553 obsoletion_candidate True MONDO:0009829 obsoletion_candidate True MONDO:0009930 obsoletion_candidate True MONDO:0010330 obsoletion_candidate True +MONDO:0100243 obsoletion_candidate True MONDO:0010674 obsoletion_candidate True MONDO:0010705 obsoletion_candidate True MONDO:0010994 obsoletion_candidate True MONDO:0011554 obsoletion_candidate True +MONDO:0011692 obsoletion_candidate True MONDO:0020057 obsoletion_candidate True +MONDO:0012501 obsoletion_candidate True MONDO:0013538 obsoletion_candidate True MONDO:0013586 obsoletion_candidate True MONDO:0013799 obsoletion_candidate True MONDO:0014053 obsoletion_candidate True +MONDO:0014253 obsoletion_candidate True MONDO:0018186 obsoletion_candidate True MONDO:0014826 obsoletion_candidate True MONDO:0017006 obsoletion_candidate True MONDO:0015153 obsoletion_candidate True MONDO:0017002 obsoletion_candidate True MONDO:0020061 obsoletion_candidate True +MONDO:0016963 obsoletion_candidate True MONDO:0017005 obsoletion_candidate True MONDO:0020056 obsoletion_candidate True +MONDO:0016946 obsoletion_candidate True MONDO:0017011 obsoletion_candidate True MONDO:0020054 obsoletion_candidate True MONDO:0016896 obsoletion_candidate True MONDO:0016900 obsoletion_candidate True MONDO:0016916 obsoletion_candidate True +MONDO:0016962 obsoletion_candidate True MONDO:0020059 obsoletion_candidate True MONDO:0020062 obsoletion_candidate True +MONDO:0017412 obsoletion_candidate True MONDO:0017848 obsoletion_candidate True MONDO:0020055 obsoletion_candidate True MONDO:0018104 obsoletion_candidate True @@ -193,15 +503,20 @@ MONDO:0020734 obsoletion_candidate True MONDO:0022109 obsoletion_candidate True MONDO:0022200 obsoletion_candidate True MONDO:0022201 obsoletion_candidate True +MONDO:0022794 obsoletion_candidate True MONDO:0026768 obsoletion_candidate True MONDO:0026782 obsoletion_candidate True +MONDO:0030032 obsoletion_candidate True MONDO:0033552 obsoletion_candidate True +MONDO:0035362 obsoletion_candidate True MONDO:0044978 obsoletion_candidate True MONDO:0060593 obsoletion_candidate True MONDO:0100106 obsoletion_candidate True +MONDO:0100245 obsoletion_candidate True MONDO:0007749 obsolete True MONDO:0007821 obsolete True MONDO:0009278 obsolete True +MONDO:0009410 obsolete True MONDO:0010330 obsolete True MONDO:0016896 obsolete True MONDO:0016900 obsolete True diff --git a/src/ontology/reports/mondo_release_diff_new_terms.tsv b/src/ontology/reports/mondo_release_diff_new_terms.tsv index 7c31cc3edd..f0b4c75453 100644 --- a/src/ontology/reports/mondo_release_diff_new_terms.tsv +++ b/src/ontology/reports/mondo_release_diff_new_terms.tsv @@ -6,6 +6,11 @@ MONDO:0100474 mild ichthyosis vulgaris An instance of ichthyosis vulgaris in whi MONDO:0100475 severe ichthyosis vulgaris An instance of ichthyosis vulgaris in which the disease presentation is severe in severity. Homozygous FLG mutation carriers often have more severe manifestations. MONDO:0100476 lipodystrophy, partial, acquired, susceptibility to An inherited susceptibility or predisposition to developing aquired partial lipodystrophy. MONDO:0100479 rifampicin-resistant tuberculosis A form of drug-resistant tuberculosis that is resisant to rifampicin with or without resistance to other antitubercular medications. +MONDO:0100480 autoimmune primary adrenal insufficiency Diminished production of adrenocortical hormones due to autoimmune destruction of the adrenal glands. +MONDO:0100481 active tuberculosis Tuberculosis caused by primary infection of or reactivation of latent Mycobacterium tuberculosis. Active tuberculosis characterized by clinical manifestation and active symptoms compatible with tuberculosis, and is distinct from latent tuberculosis infection that occurs without signs or symptoms of active disease. +MONDO:0100482 extensively drug-resistant tuberculosis A type of drug-resistant tuberculosis that is resistant to any fluoroquinolone, and at least one of three second-line injectable drugs (capreomycin, kanamycin, and amikacin), in addition to resistance to rifampicin and isoniazid. +MONDO:0100483 totally drug-resistant tuberculosis A type of drug-resistant tuberculosis that is resistant to all first- and second-line antitubercular drugs tested (isoniazid, rifampicin, streptomycin, ethambutol, pyrazinamide, ethionamide, para-aminosalicylic acid, cycloserine, ofloxacin, amikacin, ciprofloxacin, capreomycin, kanamycin). +MONDO:0100484 TSPAN12-related vitreoretinopathy A vitreoretinopathy caused by variants in the TSPAN12 gene. MONDO:0700008 chromosome 1 disorder Chromosomal disorder in which chromosome 1 is affected. MONDO:0700009 chromosome 2 disorder Chromosomal disorder in which chromosome 2 is affected. MONDO:0700010 chromosome 3 disorder Chromosomal disorder in which chromosome 3 is affected. diff --git a/src/scripts/merge_release_diff.py b/src/scripts/merge_release_diff.py index 7773048b8c..4ab8525e0b 100644 --- a/src/scripts/merge_release_diff.py +++ b/src/scripts/merge_release_diff.py @@ -225,6 +225,6 @@ def format_new_table(df): print("") if len(df_old_obsolete_candidates)>0: - print(df_obsolete_candidates[['Mondo ID','Label']].to_markdown(index=False)) + print(df_old_obsolete_candidates[['Mondo ID','Label']].to_markdown(index=False)) else: print("No changes.") \ No newline at end of file